Coordinating center for rare and undiagnosed diseases

The Coordinating Center for Rare and Undiagnosed Diseases (CCRUD) at the Hospital of Lithuanian University of Health Sciences Kauno klinikos (Hospital) has been established in 2012 when the Hospital was nominated as one of the two tertiary centres in Lithuania responsible for the implementation of the Lithuanian National Plan on the Activities Related to Rare Diseases, developed according to the requirements set by European Commission (COUNCIL RECOMMENDATION of 8 June 2009 on an action in the field of rare diseases). The Hospital has been registered as a partner of ORPHANET.

CCRUD takes part in organizing and coordination of all activities in the field of rare diseases at the Hospital level in order to ensure qualified multidisciplinary healthcare services for patients with suspected or diagnosed rare disorders. The staff fo the CCRUD provides consultations for medical professionals and patients on the organizational issues of healthcare for rare disease patients (contacts are provided on the Hospital website). CCRUD functions in close collaboration with Lithuanian University of Health Sciences, also represents the Hospital at national and international level. 
All clinical departments at the Hospital are providing services for children or adults with rare disorders as this a tertiary centre where most of complicated or undiagnosed cases are concentrated. In addition, 24 functional centers for groups of specific rare diseases have been established in accordance with special interests and experiences of the dedicated Hospital staff. This allows a more structured approach to certain groups of rare diseases in providing comprehensive multidisplinary care, scientific research, education of professionals, patients and community, collaboration at national and international level, etc. Six rare disease centres take care of pediatric rare diseases,  eight centres deal with adult patients, and the rest seven cover both pediatric and adult patient populations. Close collaboration between pediatric and adult specialists allows smooth transition of childen with rare disorders from childhood to adult healthcare.

Five centres for specific rare diseases have been nominated as national reference centers for rare ophthalmological, dermatological, endocrine, neurosurgical, and gastroenterological disorders. 
In 2017, Hospital of Lithuanian University of Health Sciences Kauno klinikos received European Reference Network membership in four different medical networks: EURACAN (European Network for Rare Adult Solid Cancer, representing nervous system tumours), Endo-ERN (European Reference Network on Rare Endocrine Conditions), ERN-EYE (Rare Eye Diseases), ERN-SKIN (Rare and Undiagnosed Skin Diseases). Preparations for membership application in the field of rare hepatic diseases are on the way.

Hospital of Lithuanian University of Health Sciences Kauno klinikos is represented at the national level by its specialists in different rare-disease-related regular commissions (Coordination Commission related to the implementation of the National plan on Activities Related to Rare Diseases, Commission on Reimbursement of Treatment for Very Rare Diseases) and  working groups (e.g., legislation on treatment reimbursement for certain rare diseases, rehabilitation, handicap status, etc.)

Collaboration with different patient organisations is taking place, by organizing common activities (conferences, disease-specific days, publications). In collaboration with a non-governmental Association of children with rare disorders, consultations for families of children with rare disorders have been implemented at the Hospital. International Rare Disease Day is being celebrated every year by organizing a conference for medical professionals and patients, supported by broad campaign on rare diseases via different media sources. The information on this event is always announced in the EURORDIS website, and the EURORDIS-provided video clip translated to Lithuanian is spread around.

Information on rare diseases for patients, families and professionals is provided in the Patient portal or on the websites of specific Hospital-based rare disease centres (in Lithuanian).
The expanding diagnostic possibilities of rare genetic, metabolic and autoimmune disorders at the Hospital level within the recent years, also the expanding possibilities of international collaboration predispose further development of healthcare provision for patients with rare diseases and of the scientific research. We are open to any professional cooperation in this field of priority.

Head of the coordinating center for rare and undiagnosed diseases
Prof. Milda Endzinienė
Phone: +37037326811
E-mail: milda.endziniene@kaunoklinikos.lt
 

Coordinator
Milda Dambrauskienė
E-mail: milda.dambrauskiene@kaunoklinikos.lt
E-mail: retos.ligos@kaunoklinikos.lt

Coordinator
Daiva Borkienė
E-mail: daiva.borkiene@kaunoklinikos.lt
Phone: +37067742046
E-mail: retos.ligos@kaunoklinikos.lt

  • Center of Rare Ophthalmological Diseases
  • Center for Rare Cardiovascular Diseases
  • Rare Endocrine Diseases Center
  • Rare Neurosurgical Diseases Center
  • Hemophilia and Coagulopathies Center
  • Rare Gastrointestinal and Liver Diseases Centre
  • Phakomatosis Centre
  • Primary Immunodeficiency Center
  • Center of Neuroendocrine Tumors
  • Pulmonary Hypertension Center
  • Adult Cystic Fibrosis Center
  • Sarcoma Center
  • Pediatric Oncology and Hematology Centre
  • Centre for Neuromuscular Disorders
  • Centre of Pediatric Chronic Respiratory Diseases
  • Children‘s Continence Center
  • Rare Skin Diseases Centre
  • Children‘s Chronic and Rare Kidney Diseases Center
  • Children‘s Cardiology Rheumatology Center for Rare Diseases
  • Rare Kidney Disease Center
  • Head and Neck Cancer Center
  • Asthma Center
  • Centre of Rare and Complex Connective Tissue Diseases
  • Rare Epilepsy Center

Head Arvydas Gelžinis
Doctor ophthalmologist, PhD
Fields of interest: rare eye diseases in children and adults.
Tel. +37037326201, +37037326698
E-mail: arvydas.gelzinis@kaunoklinikos.lt
Expert Physicians (skilled in rare eye diseases)

The experts responsible for rare retinal diseases:

  • Stanislovaitienė Daiva, doctor ophthalmologist, PhD.
  • Miniauskienė Goda, doctor ophthalmologist, PhD.
  • Balčiūnienė Vilma Jūratė, doctor ophthalmologist, assoc. prof.
  • Buteikienė Dovilė, doctor ophthalmologist, PhD.
  • Špečkauskas Martynas, doctor ophthalmologist, PhD.

The experts responsible for rare anterior segment diseases:

  • Žemaitienė Reda, doctor ophthalmologist, assoc. prof. *
  • Jašinskas Vytautas, doctor ophthalmologist, prof. *
  • Trumpaitis Jurgis, doctor ophthalmologist, PhD *
  • Janulevičienė Ingrida, doctor ophthalmologist, prof.
  • Jankauskienė Jūratė, doctor ophthalmologist, prof.
  • Piškinienė Raimonda, doctor ophthalmologist, PhD.
  • Kuzmienė Loreta, doctor ophthalmologist, assoc. prof.
  • Puodžiuvienė Edita, doctor ophthalmologist, PhD.

The experts responsible for rare pediatric eye diseases:

  • Gelžinis Arvydas, doctor ophthalmologist, PhD. *
  • Jarušaitienė Dalia, doctor ophthalmologist, PhD.*

The expert responsible for rare neuro-ophthalmological diseases:

  • Glebauskienė Brigita, doctor ophthalmologist, PhD.*
  • Liutkevičienė Rasa, doctor ophthalmologist, assoc. prof.

The Area of Expertise

Invited to participate in four clinical groups of ERN - EYE Network (WG1: Rare Retinal Diseases, WG2: Rare Neuro ophthalmological Diseases, WG3: Rare Pediatric Ophthalmological Diseases, WG4: Rare Anterior segment Diseases).

Provided facilities

Rare Eye Disease Center consists of Lithuanian University of Health Sciences Kaunas Clinics Hospital Eye Clinic (further - Eye Clinic). Lithuanian University of Health Sciences Kaunas Clinics Hospital Eye Center for Rare Diseases (further - Rare Eye Disease Centre) was established in 2015-09- 25 by LUHS KC Director General Order No. V-988.
Health care facilities for rare diseases investigation and treatment are provided for more than 824 different rare eye diseases.
More than 1,000 patients (children and adults) with rare eye diseases are examined and treated in the LUHS KC Ophthalmology department per year. The Ophthalmology department can perform all specialized diagnostic investigation and visual function evaluation, such as visual function testing (Snellen and Log-MAR); ophthalmometry; biomicroscopy; confocal biomicroscopy; visual field investigation: computer projection, FDT, dark adaptation, colour perception tests (Munsell-Farnswoth 100 hue test, Maximum colour contrast sensitivity test), Functional acuity contrast sensitivity test by Ginsburg, optical coherence tomography (OCT), GD x VCC, HRT; eye fundus examination: direct and indirect ophthalmoscopy, eye fundus photography and follow-up; electrophysiological tests: ERG, EOG, vEPS (the Ophthalmology department being the only center in Lithuania where these tests are performed), binocular vision tests as well. 
Complex manipulations such as fluorescein angiography, photodynamic therapy, laser treatment, US α and β scanner examinations are performed. 
Complex ophthalmic surgery in both children and adults is also performed: cataract surgery, (for children the only center in Lithuania being the Eye Clinic), glaucoma surgery, malignant and non-malignant eyelid tumor surgery, brachytherapy, surgery after complex eye injuries, as well as vitrectomy/retinal surgery, strabismus, keratoplasty, keratoprosthesis surgery, eyelid surgery, Avastin/Lucentis/Eylea injection into the vitreous and enucleation.

Ongoing research projects or biomedical research in the field of RD

In collaboration with the Laboratory of Ophthalmology, LUHS NI carries out a research project: "Visual functions and new molecular prognostic markers search in patients with Pituitary adenoma”.

Publications on rare diseases

1.Imbrasienė D, Jankauskienė J, Stanislovaitienė D. Ultrasonic measurement of ocular rectus muscle thickness in patients with Graves’ ophthalmopathy. Medicina (Kaunas). 2010; 46(7):472-476. 
2.Jankauskienė J, Jarušaitienė D. Assessment of visual acuity, refraction changes, and proptosis in different ages of patients with thyroid diseases. Intern J of endocrinol. 2012; 1-4. 
3.Paunksnis A, Imbrasienė D, Liutkevičienė R, Rilienė K, Keleras E, Kėvalas R. Coats’ retinitis or retinoblastoma in a 3-year-old girl: a case report. Medicina (Kaunas). 2012; 48(4):224-227.
4.Liutkevičienė R, Lesauskaitė V, Ašmonienė V, Gelžinis A, Žaliūnienė D, Jašinskas V. Inherited macular dystrophies and differential diagnostics. Medicina (Kaunas). 2012; 48(9):485-495.
5.Krėpštė L, Žemaitienė R, Barzdžiukas V, Miliauskas A. Bilateral endogenous bacterial panophthalmitis. Medicina (Kaunas). 2013; 49(3), p. 143-147.
6.Kasputytė R, Slatkevičienė G, Liutkevičienė R, Glebauskienė B, Bernotas G, Tamašauskas A. Changes of visual functions in patients with pituitary adenoma. Medicina (Kaunas). 2013; 49(3):132-137.
7.Būdienė B, Liutkevičienė R, Žaliūnienė D. Best vitelliform macular dystrophy: literature review. Central European Journal of Medicine. 2014; 9(6):784-795.

Educational materials for patients

Patient education is carried out through LSMU KC website Patient e-portal. It contains 14 topics dedicated to eye diseases' descriptions
Lithuanian Society of Glaucoma

About Rare Diseases:

Axenfeld-Rieger Syndrome
Best disease
Cataract
Coats’ retinitis
Congenital glaucoma
Neuromyelitis optica
Retinoblastoma
Stargardt’s macular dystrophy
Aniridia
Endophthalmitis
X-linked juvenile retinoschisis
Keratoconus
Retinitis pigmentosa
Collaboration

Rare Eye Disease Centre cooperates with Centogene laboratory (Germany) with ongoing consultations under suspicion of novel mutations and other diseases.
Eye Clinic works closely with Laboratory of Ophthalmology at LUHS Neuroscience Institute (LUHS NI). Genetic markers in patients with acute optic neuritis and Devic's syndrome are analyzed under cooperation.

 

Head prof. Eglė Ereminienė
MD, PhD, cardiologist
Areas of interest: rare cardiovascular diseases, pulmonary hypertension, valvular heart disease, echocardiography, vascular ultrasound of the neck.
Phone: +37037326165
E-mail: egle.ereminiene@lsmuni.lt, eglerem@yahoo.com 

Head prof. Birutė Žilaitienė
MD, PhD, professor
Phone: +37037326868, +37037326506
E-mail: birute.zilaitiene@kaunoklinikos.lt
Areas of interest: reproductive endocrinology, hypothalamus and pituary gland disorders, thyroid pathology.

The Rare Endocrine Diseases Center  has been endorsed by the Ministry of Health of the Republic of Lithuania as the national reference centre for the participation in the activities of the European Reference Networks in Endocrinology area.

Expert Physicians

Rasa Verkauskienė, MD, PhD, professor. Head of the Department of Endocrinology, pediatric endocrinologist. Area of interest: rare pediatric endocrine diseases.
Lina Barsienė, MD, PhD, endocrinologist. Head of Adult Endocrinology unit. Areas of interest: adrenal diseases, thyroid and parathyroid glands diseases.
Edita Jašinskienė, MD, PhD, Head of Pediatric Endocrinology unit, pediatric endocrinologist.
Aurelija Krasauskienė, MD, PhD, endocrinologist, associate  professor. Areas of interest: metabolic bone diseases, disorders of calcium and phosphate homeostasis.
Robertas Knispelis, MD, PhD, endocrinologist. Areas  of interest: hypothalamic dysfunction and pituitary gland disorders, rare adrenal and parathyroid gland diseases.
Romualdas Tomas Preikša, MD, PhD, pediatric endocrinologist. Areas of interest: disorders of sex development, hypogonadism.
Arimantas Tamašauskas, neurosurgeon, MD, PhD, professor, head of the Department of Neurosurgery. 
Milda Endzinienė, pediatric neurologist, MD, PhD, professor.
Gintaras Kuprionis, radiologist, MD, PhD.
Eglė Drejerienė, obstetrician-gynecologist, MD, PhD, associate professor
Astra Vitkauskienė, doctor of laboratory medicine, MD, PhD professor
Valdonė Misevičienė, pediatrician, MD, PhD, associate professor
Rasa Tamelienė, neonatologist, MD, PhD, associate professor
Dalius Malcius, pediatric surgeon, MD, PhD, associate professor

Special procedures and interventions, unique research and treatment methods

Specialised diagnostic procedures.
Clinical evaluation, laboratory hormone level evaluation and biochemical tests, diagnostic dinamic samples, ultrasound, aspirational punctures. Collaborating with the Department of Radiology complex radiological diagnostic tests are made – sinus petrosus and adrenal glands veins catheterisation samples. Also in the Department of Radiology all necessary descriptive tests are made – CT scan, magnetic resonance imaging (MRI), positron emission tomography (PET). In the Department of Genetics and Molecular Medicine genetic laboratoric tests are made to determine cause of rare endocrinological disease.
Treatment methods.
Depending on disease and its complications necessary treatment, including medicamental, surgical, radiological, chemotherapeutical or combined is provided. In majority of cases treatment strategy is defined by multidisciplinary consultations in which surgeons, pediatric surgeons, neurosurgeons, urologists, gynecologists, oncologists-radiotherapists and other specialists participate depending on the need.

Scientific research projects and clinical trials in the field of rare endocrine diseases ongoing in Rare Endocrinological diseases center. 
International scientific projects:

1. Lithuanian - Swiss program "Research and Development" project "Genetic diabetes Lithuania CH-3-MES-01/09.
2. International Alexander von Humboldt project "Gels mimicking antibody in Their selective recognition of different molecular forms of human growth hormone."
3. Projects with Max Bergman Biomaterials center of excellence, the Leibniz Institute of Polymer Research:
3.1. “Molecular Imprinting of Human Growth Hormone dimer" (2014)
3.2. “Molecular Imprinting of the Fragments of the Human Growth Hormone” (2015)
4. COST activity BM 1105th GnRH deficiency: Elucidation of the neuroendocrine control of Reproduction.
5. COST activity TD1103. European Network for Hyperpolarization Physics and Methodology in NMR and MRI.

Lithuanian science projects for rare endocrine diseases:
1.Research Council of Lithuania funded project “Cardiometabolic risk factors in Turner syndrome: prospective one population cohort study” MIP-15445. 
2. National Research Program Healthy Aging, funded by Research Council of Lithuania "Investigation of genetic and epigenetic prognostic markers for prediction of clinical course of papillary thyroid cancer in different age groups“ SEN-15050.

Publications on rare diseases

The most important international publications on rare endocrine diseases:

1. Juodelė L. Serapinas D., Sabaliauskas G., Krasauskiene A. Krasauskas V., Verkauskienė R., Barkauskienė D., Juozaityte E. Carcinoma of two parathyroid glands Caused by a novel MEN1 gene mutation - a rare feature of the MEN1 syndrome // Medicine. Kaunas. 2011 tons. 47, no. 11, p. 635-639.

2. Bacevičienė R., Valonytė L. Čeponis J. The effect of physiotherapy in addition to testosterone replacement therapy on the efficiency of the motor system in men with hypogonadism // Medicine. Kaunas. (Experimental investigations). 2013, vol. 49, no. 2, p. 71-77.

3. Verkauskienė R., Petraitienė I., K. Albertsson Wikland Puberty in children born small for gestational age // Hormone researchinpædiatrics. 2013, vol. 80, iss. 2, p. 69-77.

4. Kublickas R. H., Jarienė G. Polyacrylamide gels with ionized functional groups in their selective recognition of trimeric molecular for human growth hormone // Polymerbulletin. (Original Paper). 2013, vol. 70, no. 3, p. 985-992.

5. Lašaitė L. Čeponis J., Preikša R.T., Žilaitienė B. Impaired emotional state, quality of life and cognitive functions in young hypogonadal men // Andrology. (Original article). In 2014, vol. 46, no. 10, p. 1107-1112.

6. Navardauskaitė R., Dusatkova P., Obermannova B., Pfaeffle R. Blum W.F., Adukauskienė D., N. Smetanina, Cinek O., Verkauskienė R., Leb J. High prevalence of PROP1 defects in Lithuania: phenotypic findings in an ethnically homogenous cohort of patient with multiple pituitary hormone deficiency // The Journal of Clinical Endocrinology and Metabolism. In 2014, vol. 99, iss. 1, p. 299-306.

7. Petraitienė I., Barauskas G. Gulbinas A. Malcius D., Hussain K., Verkauskas G., Verkauskienė R. Congenital hyperinsulinism // Medicine. Amsterdam. (Casereport). In 2014, vol. 50, no. 3, p. 190-195.

8. Hernández-Ramírez LC Gabrovska P., Denes J., Table K. Trivellin G., Tilley D., Ferry F., Evans J., Ellard S., Grossman AB Roncaroli F., Gadelha MR Korbonits M., Knispelis R., Verkauskienė R. Landscape of familial isolated and young-Onset pituitary adenomas: prospective diagnosis in AIP mutation carriers // The Journal of Clinical Endocrinology and Metabolism. 2015 Vol. 100, iss. 9, p. E1242-E1254.

9. Krikščiūnienė R., Žilaitienė B., Verkauskienė R. The current management of  Turner syndrome. Minerva Endocrinologica. 2016, vol. 41, no. 1, p. 105-121.

10. Dusatkova P., Pfaffle R. Brown M.R., Akulevich N., Arnhold I.M.P., Kalina M.A., Kot K., Krzisnik C., Lemos M.C., Malikova J., Navardauskaitė R., Obermannova B., Pribilincova Z., Sallai A., Stipančić G., Verkauskienė R., Cinek O., Blum W.F., Parks J.S., Austerlitz F., Lebl J. Genesis of two most prevalent PROP1 causing gene variants combined pituitary hormone deficiency in 21 populations / European Journal of Human Genetics. 2016, vol. 24, no. 3, p. 415-420.

11. Lašaitė L, Čeponis J, Preikša RT, Žilaitienė B. Effects of two-year testosterone replacement therapy on cognition, emotions and quality of life in young and middle-aged hypogonadal men. Andrologia. 2016 Aug 22. [Epub ahead of print]

Rare endocrine diseases center cooperates with patient organizations:

Patients with pituitary disorders organization “AUŠVIS”: http://www.sveikaszmogus.lt/akromegalija

Association of patients with Turner syndrome: http://www.terneriosindromoasociacija.lt/

Society of patients with bone metabolic diseases "UOLA"

Lithuanian Diabetes Association: http://www.dia.lt/

Information in the media about rare endocrine diseases, events of rare endocrine diseases topics:

http://sveikata.lrytas.lt/ligos-ir-gydymas/kusingo-sindromas-jiezno-gyventojai-nuo-kosulio-luzo-sonkauliai.htm?p=1

http://www.moteris.lt/sveikata/reta-liga-sergantys-zmones-uzribyje.d?id=67247992

http://m.kauno.diena.lt/naujienos/sveikata/sveikata/retomis-ligomis-sergantys-zmones-nori-tinkamo-gydymo-677759

http://lsmuni.lt/media/dynamic/files/7167/2015_av22--10pslweb.pdf

Collaboration

Vilnius University
Kaunas University of Technology
Lithuanian Sports University
Vytautas Magnus University
University of Basel, University of Geneva, Switzerland
University of Tampere, University of Helsinki, Finland
University of Tartu, Molecular and Cell Biology Institute, Estonia
Dresden Technical University, Leibniz Polymer Research Institute, University of Hannover, Germany
Riga Stradins University, Latvia
Copenhagen University Hospital, Department of Growth and Reproduction, Denmark
Karolinska Institutet and Karolinska University Hospital, Sweden
Arimantas Tamašauskas, neurosurgeon, MD, PhD, professor, head of the Department of Neurosurgery.
Milda Endzinienė, pediatric neurologist, MD, PhD, professor.
Gintaras Kuprionis, radiologist, MD, PhD.
Eglė Drejerienė, obstetrician-gynecologist, MD, PhD, associate professor
Astra Vitkauskienė, doctor of laboratory medicine, MD, PhD professor
Valdonė Misevičienė, pediatrician, MD, PhD, associate professor
Rasa Tamelienė, neonatologist, MD, PhD, associate professor
Dalius Malcius, pediatric surgeon, MD, PhD, associate professor

LT04 12 euracan en

Head prof. Vytenis Pranas Deltuva
MD, PhD
Phone: +37037326549
E-mail: vytenis.deltuva@kaunoklinikos.lt
Expert Physicians (skilled in rare neurosurgical diseases)

Experts in the field of oncology:

Prof. Vytenis Pranas Deltuva, MD, PhD, Chief of Brain Surgery unit, neurosurgeon
Prof. Arimantas Tamašauskas, MD, PhD, Head of Neurosurgery Department of the Hospital of Lithuanian University of Health Sciences Kauno klinikos, neurosurgeon
Kęstutis Skauminas, MD, PhD, neurosurgeon
Kęstutis Šinkūnas, MD, PhD, neurosurgeon
Rita Pavalkytė, nurse

Experts in the field of vascular neurosurgery:

Prof. Arimantas Tamašauskas, MD, PhD, Chief of Neurosurgery Department, neurosurgeon
Prof. Vytenis Pranas Deltuva, MD, PhD, Chief of Brain Surgery unit, neurosurgeon
Egidijus Marcinkevičius, MD, PhD, neurosurgeon
Giedrimantas Bernotas, MD, PhD, neurosurgeon
Rita Kuzmienė, nurse

Experts in the field of pediatric neurosurgery:

Assoc. prof. Algimantas Matukevičius, MD, PhD, Chief of Pediatric Neurosurgery unit, neurosurgeon
Prof. Vytenis Pranas Deltuva, MD, PhD, Chief of Brain Surgery unit, neurosurgeon
Vytautas Ragaišis, MD, PhD, neurosurgeon
Mindaugas Urbonas, MD, neurosurgeon
Dainora Butkutė, nurse

Experts in the field of functional & stereotactic neurosurgery:

Prof. Vytenis Pranas Deltuva, MD, PhD, Chief of Brain Surgery unit, neurosurgeon
Andrius Radžiūnas, MD, neurosurgeon
Mindaugas Urbonas, MD, neurosurgeon
Rasa Kairienė, nurse

Experts in the field of pediatric neurosurgery:

Gintas Vaitkevičius, MD, PhD, neurosurgeon
Prof. Arimantas Tamašauskas, MD, PhD, Head of Neurosurgery Department, neurosurgeon
Kazys Vytautas Ambrozaitis, MD, PhD, neurosurgeon
Deividas Stukas, MD, neurosurgeon
Smaida Skupeikienė, nurse

Experts in the field of head & brain trauma:

Assoc. prof. Rimantas Vilcinis, MD, PhD, Chief of Head Injury unit, neurosurgeon
Prof. Vytenis Pranas Deltuva, MD, PhD, Chief of Brain Surgery unit, neurosurgeon
Laimutis Kalasauskas, MD, PhD, neurosurgeon
Algirdas Blazgys, MD, neurosurgeon
Nijolė Kamisaraitienė, nurse

Rare Neurosurgical Diseases Center provides comprehensive and multidisciplinary world-class care for patients suffering from neurosurgical disorders. Physicians from departments of Neurology, Oncology/Hematology, Radiology, Pathology, Pediatrics, Endocrinology, Psychiatry, ENT, Oral and Maxillofacial surgery, Neonatology, Plastic and Reconstructive surgery and Anesthesiology actively participate in patients management.

The Area of Expertise
Diseases and conditions treated at the Rare Neurosurgical Diseases Center:
1) Brain and spinal tumors;
2) Inherited nervous system disorders (encephalocele, congenital hydrocephalus, cysts, spina bifida, Arnold-Chiari malformations);
3) Inherited cranium development abnormalities (craniosynostosis);
4) Extrapiramidal and movement disorders (dystonia, Parkinson's disease, Huntington's disease, tremor);
5) Brain aneurysms and arteriovenous malformations;
6) Epilepsy;
7) Traumatic brain injury.

Provided services

Rare Neurosurgical Diseases Center is coordinated by the Department of Neurosurgery of the Hospital of Lithuanian University of Health Sciences Kauno klinikos, which provides world class care medical services for adults and children. At the Department of Neurosurgery neurosurgeons routinely use cutting-edge technological advances (intraoperative MRI, intraoperative CT, intraoperative ultrasound) to treat complex cerebrovascular diseases, brain and spinal tumors, skull base pathologies,and to perform functional and stereotactic surgeries. Patients from all regions of Lithuania are referred to our department to treat patients with arteriovenous malformations, cavernous angiomas, carotid-cavernous fistulas, ischemic and hemorrhagic strokes, complex brain aneurysms. Patients suffering from epilepsy, Parkinson's disease, tremor of various etiology, torsion dystonia, choreoathetosis, hemiballismus and other forms of extrapyramidal hyperkinesias are also evaluated and treated at our department. We also perform surgical operations for congenital and acquired cerebrospinal fluid circulation disorders (for example, hydrocephalus and cerebral cysts) and skull, spine, brain and spinal cord congenital deformations (for example, Chiari malformation and craniosynostosis).

Active research projects at the Rare Neurosurgical Diseases Center:
1. Etiopathogenesis, molecular mechanisms, diagnostics and treatment optimisation of rare central nervous system diseases.
2. Development of novel neuroendocrine and psychological prognostic factors in patients with central nervous system diseases.
3. Diagnostics and treatment of central nervous system tumors.
4. Diagnostics and treatment optimization of cerebral vascular disorders.
5. Surgical management optimization of functional neurological disorders and epilepsy.
6. Diagnostics and treatment optimization of severe traumatic brain injury.

Most important research publications in 2011–2016 about rare neurosurgical disorders (articles indexed in Thomson Reuters Web of Knowledge) (see below).

Patient education resources:

Patient education resources are published in the Hospital of Lithuanian University of Health Sciences Kauno klinikos web-page. Patient education material contains 30 topics about rare neurosurgical diseases.
Patient education resources about functional neurosurgical disorders (movements and pain disorders, epilepsy, etc.): http://funkcineneurochirurgija.lt/
Patient education resources about brain tumours (in English language): http://www.abta.org/
Scientific events organized by the Neurosurgery department during 2010–2015:
1. Conference Neuroscience for patients‘ welfare, May 23, 2014, Kaunas, Lithuania.
2. The 1st Baltic‐Nordic Summer School on Neuroinformatics (BNNI2013): Computations in the Brain and Translational Neuroscience, May 29-31,2013, Kaunas, Lithuania.
3. International Translational Neuroscience Conference, June 16-17,2011 Kaunas, Lithuania.

Lithuanian Brain Tumour Patients and their Caregivers Society
Chairwoman - Bronė Vengeliauskienė
Address: Brain Surgery Unit, Hospital of Lithuanian University of Health Sciences Kauno klinikos, Eiveniu str. 2, LT-50161, Kaunas, Lithuania
Correspondence address: Beržų g. 35-34, LT-36141, Panevėžys
Tel. (+370 37) 326549, Fax (+370 37) 331767 
E-mail.: bronyteiv@gmail.com, vytenis.deltuva@kaunoklinikos.lt

Publications on Rare Neurosurgical Diseases

Head assoc. prof. Rolandas Gerbutavičius
MD, PhD, hematologist
Phone: +37037326779
E-mail: rolandas.gerbutavicius@kaunoklinikos.lt
Areas of interest: congenital and acquired coagulopathies, hematopoietic stem cell transplantation.

Head ssoc. prof. Vitalija Petrenkienė
Phone: +37037326188
E-mail: vitalijapetrenkiene@gmail.com
The consultant of the Center prof. Limas Kupčinskas
Head of Gastroenterology Dep & Institute of Digestive research, Lithuanian University of Health Sciences, full member of Lithuanian Academy of Sciences

The center is registered in Orphanet database:

http://www.orpha.net/consor/cgi-bin/Directory_Professionals.php?lng=EN&data_id=42590&MISSING%20CONTENT=Prof-Limas-KUPCINSKAS&title=Prof-Limas-KUPCINSKAS&search=Directory_Professionals_Simple
http://www.orpha.net/consor/www/cgi-bin/Directory_Professionals.php?lng=EN&data_id=42589&MISSING%20CONTENT=Dr-Vitalija-PETRENKIENE&title=Dr-Vitalija-PETRENKIENE&search=Directory_Professionals_Simple

Areas of competence of the Center:

On the 8th of June 2017, the Center of Rare Gastrointestinal and Liver Diseases has been endorsed by the Ministry of Health of the Republic of Lithuania as the national reference centre for the participation in the activities of the European Reference Networks.
Rare Gastrointestinal and liver diseases center was established in 2013 and is provided with modern diagnostic and treatment facilities including liver transplant unit.
The center is working with close collaboration with the Institute for Digestive Research (http://www.lsmuni.lt/en/structure/medical-academy-/faculty-of-medicine-/institute-for-digestive-research-/) and Laboratory of clinical genetics.)
The center provided care for patients from all Lithuania.
The center provided care for patients with Wilsons’s disease, Hemochromatosis, Primary sclerosing cholangitis, Primary biliary cholangitis, Budd-Chiari syndrome, Rare liver diseases of Pregnancy, Autoimmune hepatitis, Collagenous and Lymphocytic colitis, etc.
The researchers of the Center published a number of papers in high impact journals on rare disease topics, including 4 publications in Gastroenterology (impact factor >17):

1: Kucinskas L, Jeroch J, Vitkauskiene A, Sakalauskas R, Petrenkiene V, Kucinskas, V, Naginiene R, Schmidt H, Kupcinskas L. High frequency of the c.3207C>A (p.H1069Q) mutation in ATP7B gene of Lithuanian patients with hepaticpresentation of Wilson's disease. World J Gastroenterol. 2008 Oct 14;14(38):5876-9. PubMed PMID: 18855987; PubMed Central PMCID: PMC2751898.
2: Juzėnas S, Kupčinskas J, Valantienė I, Šumskienė J, Petrenkienė V, Kondrackienė J, Kučinskas L, Kiudelis G, Skiecevičienė J, Kupčinskas L. Association of HFE gene C282Y and H63D mutations with liver cirrhosis in the Lithuanian population. Medicina (Kaunas). 2016;52(5):269-275. doi: 10.1016/j.medici.2016.09.004. PubMed PMID: 27816425.
3: Miehlke S, Madisch A, Kupcinskas L, Petrauskas D, Böhm G, Marks HJ, Neumeyer M, Nathan T, Fernández-Bañares F, Greinwald R, Mohrbacher R, Vieth M, Bonderup OK; BUC-60/COC Study Group.. Budesonide is more effective than mesalamine or placebo in short-term treatment of collagenous colitis. Gastroenterology. 2014 May; 146(5):1222-30.e1-2. doi: 10.1053/j.gastro.2014.01.019. PubMed PMID: 24440672.
4: Kucinskas L, Juzenas S, Sventoraityte J, Cedaviciute R, Vitkauskiene A, Kalibatas V, Kondrackiene J, Kupcinskas L. Prevalence of C282Y, H63D, and S65C mutations in hereditary HFE-hemochromatosis gene in Lithuanian population. Ann Hematol. 2012 Apr;91(4):491-5. doi: 10.1007/s00277-011-1338-5. PubMed PMID: 21947086.
5: Adukauskiene D, Dockiene I, Naginiene R, Kevelaitis E, Pundzius J, Kupcinskas L. Acute liver failure in Lithuania. Medicina (Kaunas). 2008;44(7):536-40. PubMed PMID: 18695350.
6: Kondrackiene J, Kupcinskas L. Liver diseases unique to pregnancy. Medicina (Kaunas). 2008;44(5):337-45. Review. PubMed PMID: 18541949.
7: Kondrackiene J, Beuers U, Zalinkevicius R, Tauschel HD, Gintautas V, Kupcinskas L. Predictors of premature delivery in patients with intrahepatic cholestasis of pregnancy. World J Gastroenterol. 2007 Dec 14;13(46):6226-30. PubMed PMID: 18069764; PubMed Central PMCID: PMC4171234.
8: Kondrackiene J, Beuers U, Kupcinskas L. Efficacy and safety of ursodeoxycholic acid versus cholestyramine in intrahepatic cholestasis of pregnancy. Gastroenterology. 2005 Sep;129(3):894-901. PubMed PMID: 16143129.
9: Bacq Y, Sentilhes L, Reyes HB, Glantz A, Kondrackiene J, Binder T, Nicastri PL, Locatelli A, Floreani A, Hernandez I, Di Martino V. Efficacy of ursodeoxycholic acid in treating intrahepatic cholestasis of pregnancy: a meta-analysis. Gastroenterology. 2012 Dec;143(6):1492-501. doi: 10.1053/j.gastro.2012.08.004. Review. PubMed PMID: 22892336.
10: Kremer AE, Martens JJ, Kulik W, Ruëff F, Kuiper EM, van Buuren HR, van Erpecum KJ, Kondrackiene J, Prieto J, Rust C, Geenes VL, Williamson C, Moolenaar WH, Beuers U, Oude Elferink RP. Lysophosphatidic acid is a potential mediator of cholestatic pruritus. Gastroenterology. 2010 Sep;139(3):1008-18, 1018.e1. doi: 10.1053/j.gastro.2010.05.009. PubMed PMID: 20546739.

Head prof. Milda Endzinienė
MD, PhD, child neurologist
Phone: +37037326811
E-mail: milda.endziniene@kaunoklinikos.lt
Areas of interest: epilepsy, congenital disorders of the nervous system, rare diseases.

Publications.

Vaikų tuberozinė sklerozė: diagnostika, gydymas, ilgalaikė stebėsena. M. Endzinienė, L. Gumbelevičienė, J. Masalskienė. Kaunas, 2018. https://www.kaunoklinikos.lt/struktura-ir-kontaktai/retu-ir-nediagnozuotu-ligu-koordinacinis-centras/ : Fakomatozių centras.

Head prof. Brigita Šitkauskienė
MD, PhD, allergist and clinical immunologist
Phone: +37037703414
E-mail: brigita.sitkauskiene@kaunoklinikos.lt
Areas of interest: allergic diseases, primary immunodeficiency disorders.

Head assoc. prof. Rasa Jančiauskienė
MD, PhD, medical oncologist, head of Oncology department in the Hospital of Lithuanian University of Health Sciences Kauno klinikos.
Phone: +37037326807
E-mail: rasa.janciauskiene@kaunoklinikos.lt
Areas of interest: diagnosis and management of gastrointestinal and neuroendocrine tumors.

Hospital of Lithuanian University of Health Sciences Kauno klinikos participates in the EU Joint Action on Rare Cancers: http://jointactionrarecancers.eu/​

Head prof. Skaidrius Miliauskas
MD, PhD, pulmonologist
Phone: +37037326953
E-mail: skaidrius.miliauskas@kaunoklinikos.lt
Areas of interest: pulmonary diseases (pulmonary hypertension, pulmonary embolism), tuberculosis, and sleep apnea.

Head prof. Kęstutis Malakauskas
MD, PhD, pulmonologist
Phone: +37037326737
E-mail: kestutis.malakauskas@lsmuni.lt, cfcentras@kaunoklinikos.lt
Areas of interest: cystic fibrosis, asthma, chronic obstructive pulmonary disease, interstitial lung disease, pulmonary function tests, lung transplantation.

Head Laimonas Jaruševičius
MD, PhD, radiooncologist
Head of the Radiotherapy Unit, Department of Oncology and Hematology. 
Phone: +37037326133
E-mail: laimonas.jarusevicius@kaunoklinikos.lt
Areas of interest: stereotactic radiotherapy, brachytherapy, high-precision radiotherapy.

Expert Physicians

Domas Vaitiekus, MD, PhD, medical oncologist, hematologist
E-mail: domasvait@gmail.com
Areas of interest: management of malignant connective tissue diseases (sarcomas); haematopoietic stem cell transplantation (bone marrow transplantation); management of melanoma, kidney cancer, lung cancer; germ cell tumors; high-dose chemotherapy; rare oncological diseases.

Laura Kairevičė, MD, PhD, medical oncologist
E-mail: laurakairev@yahoo.com
Areas of interest: colorectal cancer, sarcomas, germ cell tumors, urogenital cancer.

Skaistė Astašauskaitė, MD, medical oncologist
E-mail: skaiste.astasauskaite@kaunoklinikos.lt
Areas of interest: chemotherapy of malignant tumors, treatment of oncologic emergencies, and chemotherapy for gastrointestinal tract cancer, melanoma, sarcoma, head and neck tumors.

Mindaugas Stravinskas, MD, orthopedic traumatologist
Phone: +3703732 6212
Areas of interest: bone and soft tissue oncological diseases, systemic diseases; removal and reconstruction of limbs and pelvic, bone and soft tissue tumors; advanced oncological operations, bone transplantation; osteosynthesis in trauma patients; ultrasound guided minimally invasive interventions: tumor biopsy, puncture of cystic lesions.

Lina Poškienė, MD, PhD, pathologist
Phone: +37037327384
E-mail: lina_poskiene@yahoo.com
Prof. Eglė Monastyreckienė, MD, PhD, radiologist, head of the sector of Skeletal and soft tissue radiology
Phone: +37037327108
E-mail: egle.monastyreckiene@kaunoklinikos.lt
Eduardas Keleras, MD, radiologist
E-mail: eduardas.keleras@kaunoklinikos.lt

Hospital of Lithuanian University of Health Sciences Kauno klinikos participates in the EU Joint Action on Rare Cancers: http://jointactionrarecancers.eu/​

Head Giedrė Rutkauskienė
MD, PhD, pediatric oncologist
Phone: +37037703422
E-mail: giedre.rutkauskiene@kaunoklinikos.lt
Areas of interest: solid tumors in children, brain tumors in children, benign blood disorders.

Head Gineta Liutkienė
MD, PhD, neurologist
Areas of interest: rare neurological disorders, epilepsy.
Phone: +37037326697
E-mail: gineta.liutkiene@kaunoklinikos.lt

For many years specialists of the Hospital of Lithuanian University of Health Sciences Kauno klinikos have been involved in the diagnosis and management of patients with neuromuscular diseases (NMDs). The Centre for Pediatric Neuromuscular Diseases was established in 2012. In 2018, it was reorganized into the Centre of Neuromuscular Disorders, with the aim to provide and develop multidisciplinary care for both pediatric as well as adult patients with NMDs. Based on the already developed care model for pediatric patients, the newly established Centre consists of two dedicated teams of pediatric and adult specialists with expertise in NMD area. The teams were formed according to the international criteria and they work in close collaboration to ensure timely diagnosis and comprehensive care for NMD patients. The specialists of the Centre for Neuromuscular Diseases are involved in education of healthcare specialists and research activities as well. In 2019, Kauno klinikos has been endorsed by the Ministry of Health of the Republic of Lithuania as the national reference centre for the participation in the activities of the European Reference Networks on Rare Neuromuscular Diseases (ERN EURO-NMD).
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Daiva Borkienė
Coordinator, nurse
E-mail:daiva.borkiene@kaunoklinikos.lt
Phone: +37037326135

Pediatric specialists with expertise in NMD:

Milda Dambrauskienė, MD
pediatric neurologist
E-mail: milda.dambrauskiene@kaunoklinikos.lt
Phone:  +37037326697
Assoc. Prof. Audronė Prasauskienė, MD, PhD
pediatric neurologist
Indrė Bakanienė, MD
pediatric neurologist
Assoc. Prof. Valdonė Misevičienė, MD, PhD
pediatric pulmonologist
Prof. Laimutė Vaidelienė, MD, PhD
pediatric pulmonologist
Assoc. prof. Virginija Ašmonienė, MD, PhD
clinical geneticist
Rasa Traberg, MD
clinical geneticist
Migla Žėbienė, MD
pediatric cardiologist
Jolita Gintautienė, MD, PhD
orthopedic surgeon
Assoc. Prof. Rūta Kučinskienė, MD, PhD
pediatric gastroenterologist
Rūta Rokaitė, MD, PhD
pediatric gastroenterologist, dietician
Edita Jašinskienė, MD, PhD
pediatric endocrinologist
Romualdas Tomas Preikša, MD, PhD
pediatric endocrinologist
Assoc. Prof. Inesa Rimdeikienė, PhD
physiotherapist
Vaida Margevičiūtė
physiotherapist
Irina Banienė
psychologist

Adult specialists with expertise in NMD:

Gineta Liutkienė, MD, PhD
neurologist
Miglė Ališauskienė, MD, PhD
neurologist
Daiva Garšvienė, MD, PhD
neurologist
Jovita Švilpauskė-Laurynienė, MD, PhD
neurologist
Gintautė Samušytė, MD
neurologist
Eglė Sukockienė, MD
neurologist
Prof. Kęstutis Petrikonis, MD, PhD
neurologist
Prof. Antanas Vaitkus, MD, PhD
neurologist
Guoda Vaitukaitienė, MD, PhD
pulmonologist
Prof. Skaidrius Miliauskas, MD, PhD
pulmonologist
Prof. Eglė Ereminienė, MD, PhD
cardiologist
Assoc. Prof. Aida Žvirblienė, MD, PhD
gastroenterologist, dietician
Dovilė Urbanavičiūtė, MD
dietician
Assoc. prof. Virginija Ašmonienė, MD, PhD
clinical geneticist
Rasa Traberg, MD
clinical geneticist
Toma Petkutė
physiotherapist

Specialised interventions
Diagnostic facilities include laboratory (biochemistry, immunology, etc.) tests, electroneuromyography, muscle biopsy, genetic testing and counselling. Clinical evaluation and assessment of functional status are performed by neurologists, physiotherapists, and other specialists, according to their area of expertise.
More than 1200 patients (1100 adults and 100 children) with suspected rare neuromuscular diseases are seen in an out-patient unit of the Department of Neurology each year. More than 330 adult patients and approximately 40 children with NMDs are admitted to the Department of Neurology for differential diagnosis or multidiciplinary evaluation annually.

Multidisciplinary approach
An individual multidisciplinary care plan is formed and implemented for each patient, according to their needs and condition. Many NMDs cause muscle weakness, leading to worsening of respiratory function, cardiac involvement, skeletal deformities, and impairment of gastrointestinal and endocrine systems. Health care providers of various specialties with expertise in NMDs perform tests, evaluate their result and provide recommendations for further care and management. A comprehensive follow-up plan is established and discussed with other specialists, the patient and their family, focusing on the most recent challenges. Patients are admitted to the Department of Neurology or Child Neurology for an annual comprehensive check-up on a regular basis. In some cases the patients are referred to the Children’s Rehabilitation Hospital “Lopšelis“ or Kulautuva Hospital of Rehabilitation for further evaluation and management.

Patients requiring surgery, are consulted by experienced anesthesiologists, who perform a comprehensive evaluation and select the safiest way to provide anesthesia. Pediatric Intensive Care Unit has the equipment to ensure non-invasive and invasive ventilation after surgery. Patients with NMD, who develop severe respiratory insufficiency, are followed by the specialists of PICU and the Centre for Pediatric Chronic Respiratory Diseases. Children with tracheostomy and/or gastrostomy receive regular care in the PICU or Pediatric Out-patient department. Adult patients are admitted to Day care unit. In case of severe acute conditions, when urgent treatment is necessary, patients are referred to Intensive care units.

The transition to adulthood
In order to ensure continuity of care for patients with NMDs, child neurologists start the process of transfer of teenage patients as they approach the age of 18 years. The most complicated cases are discussed at the multidisciplinary meetings of the NMD teams. Close collaboration with patient organization “Sraunija” ensures that expectations of patients and their families about improvement of care are met.

Management
Treatment and management is provided according to patients’ condition, stage of the disease, and complications. Since 2018, children with spinal muscular atrophy receive intrathecal nusinersen injections. Other treatment possibilities include steroids for Duchenne muscular dystrophy patients, medications and plasma exchange procedures in case of myasthenia, management of cardiomyopathy and respiratory complications, non-invasive and invasive ventilation, correction of low bone density and other endocrine issues, surgery for skeletal deformities, etc. In some cases collaboration with other specialists in Kauno klinikos or NMD centres abroad is required.
Patients are provided with information regarding their disease, treatment options, psychosocial issues, and patient organizations.

Materials for healthcare providers
1.    Guidelines “Long-term Multidisciplinary Care for Children with Progressive Muscular Dystrophies” (in Lithuanian, “Vaikų, sergančių progresuojančiomis raumenų distrofijomis, ilgalaikė daugiadalykė stebėsena”,  Kaunas 2018), prepared as a part of the EU/Lithuanian Ministry of Health Project “Establishment of Pediatric Rare Diseases Competence Centre at the Hospital of Lithuanian University of Health Sciences Kauno klinikos” (No. 08.1.3-CPVA-V-612-01-0008). Authors:  Milda Endzinienė, Neringa Valatkaitė, Audronė Prasauskienė, Milda Dambrauskienė). Approved by Lithuanian University of Health Sciences, Vilnius University, Lithuanian Child Neurology Association, and  Lithuanian Academy of Childhood Disability).
2.    Vaičienė-Magistris N. Nervų ir raumenų ligos (in Lithuanian, "Neuromuscular Diserases”). Textbook “Pediatrics” („Pediatrija“), ed. Kėvalas R., p.1020; Vitae Litera, 2018. 697-700.
3.    Vaičienė-Magistris N. “Neuroraumeninės ligos” (in Lithuanian, “Neuromuscular Diseases”). Textbook “Basics of Neurology” („Neurologijos pagrindai“), 2017: 213-29.
4.    Vaičienė-Magistris N., Parnarauskienė R., Rastenytė D., Jatužis D. Chapter “Neuroraumeninės ligos” (in Lithuanian, “Neuromuscular Diseases”, textbook “Clinical Neurology” („Klinikinė neurologija“), ed. Budrys V, 2009: 737-88.
5.    Dambrauskienė, Milda. Current Issues in Management of Spinal Muscular Atrophy (Spinalinės raumenų atrofijos gydymo naujienos) // Lietuvos gydytojo žurnalas. Kaunas : Medicinos spaudos namai. ISSN 1648-3154. 2018, Nr. 8(111), p. 39-41.
6.    Leaflets for general practitioners and pediatricians about the initial first signs and multidisciplinary care of spinal muscular atrophy, Duchenne muscular dystrophy, Charcot-Marie-Tooth patients.
Materials for patients
http://www.treat-nmd.eu/downloads/file/standardsofcare/dmd/lithuanian/DMD_FG2010_LTver2Print.pdf (DMD guide for patients and families, translated into Lithuanian, http://www.treat-nmd.eu/diagnosis-and-management-of-DMD)
http://www.treat-nmd.eu/downloads/file/standardsofcare/sma/lithuanian/SMA_FG_LTver2PrintVersion.pdf (SMA Standards of Care translated into Lithuanian, http://www.treat-nmd.eu/sma/care/care-standards/)

Updated standards of care:
http://www.treat-nmd.eu/care/sma/2017-standard-of-care-for-spinal-muscular-atrophy-sma/
http://www.treat-nmd.eu/care/dmd/diagnosis-management-DMD/

Useful links:
Lithuanian association of genetic neuromuscular disorders “Sraunija”: www.sraunija.lt
TREAT-NMD http://www.treat-nmd.eu/
EURO-NMD: https://ern-euro-nmd.eu/

Collaboration:
Children’s Rehabilitation Hospital “Lopšelis“
Kulautuva Hospital of Rehabilitation
Centre of Medical Genetics of Vilnius University Hospital Santaros klinikos

 

Head assoc. prof. Valdonė Misevičienė
MD, PhD, pediatric pulmonologist and allergist
Phone: +37037326119, +37037326789
E-mail: valdone.miseviciene@kaunoklinikos.lt
 

Head assoc. prof. Šarūnas Rudaitis
MD, PhD, pediatric nephrologist
Phone: +37037326789
E-mail: sarunas.rudaitis@kaunoklinikos.lt
 


Head prof. Vesta Kučinskienė

Dermatovenereologist, MD, PhD, associate professor. Areas of interest: rare skin diseases, skin and sexually transmitted infections, psoriasis, atopic dermatitis.
Phone: +37037326266
E-mail: vesta.kucinskiene@kaunoklinikos.lt
On the 17th of May 2016, the Center of Rare Skin Diseases (CRSD)  has been endorsed by the Ministry of Health of the Republic of Lithuania as the national reference centre for the participation in the activities of the European Reference Networks in Dermatology area.

Since 15 December 2016, the Hospital of Lithuanian University of Health Sciences Kauno klinikos is approved member of the European Reference Network on Rare and Undiagnosed Skin Disorders (ERN-Skin).

Once a month, on penultimate Tuesdays, the CRSD organises interdisciplinary consultations of dermatovenereologists and other specialists for patients with severe rare skin diseases. The examination plan and necessary investigations are organised for each patient with a rare skin disease. Competent specialists of the CRSD evaluate tests results, summarise them, and present recommendations for further treatment and care.

Assoc. Prof. V. Kučinskienė consults patients with rare skin diseases every Monday from 14 to 16 p.m. in room No. 121 at the Department of Skin and Venereal Diseases of the Hospital of the Lithuanian University of Health Sciences Kauno klinikos. The registration is by phone: +370 37 326266 or +370 37 326784.

Expert Physicians (skilled in rare skin diseases)

Skaidra Valiukevičienė, dermatovenereologist, professor, MD, PhD.
Head of the Department of Skin and Venereal Diseases.
Areas of interest: skin tumours, chronic inflammatory and rare skin diseases.
Phone: +370 37 326246; E-mail: Skaidra.Valiukevičienė@kaunoklinikos.lt

Jurgita Karčiauskienė, dermatovenereologist, MD, PhD.
Areas of interest: diseases of sebaceous glands of the skin, chronic inflammatory skin diseases, paediatric dermatology. 
Phone: +370 37 326246; E-mail: jurgita.karciauskiene@gmail.com
Jurgita Makštienė, pathologist, associate professor, MD, PhD.
Areas of interest: dermatopathology, histochemical, immunohistochemical, and molecular tests. 
Phone: +370 37 326879; E-mail: jurga.makstiene@gmail.com
Rytis Rimdeika, plastic surgeon, professor, MD, PhD.
Head of the Department of Plastic and Reconstructive Surgery.
Areas of interest: plastic surgery of chronic wounds, their complications and skin tumours. 
Phone: +370 37 326853; E-mail: Rytis.Rimdeika@kaunoklinikos.lt
Astra Vitkauskienė, doctor of laboratory medicine, professor, MD, PhD.
Head of the Department of Laboratory Medicine.
Areas of interest: skin infections and sexuality transmitted diseases.
Phone: +370 37 326775; E-mail: Astra.Vitkauskiene@kaunoklinikos.lt
Milda Endzinienė, neurologist, professor, MD, PhD. Areas of interest: phakomatoses (tuberous sclerosis, neurofibromatosis, hypomelanosis of Ito, Sturge-Weber syndrome etc.), congenital metabolic disorders with damage to the skin and the nervous systems.
Phone: +370 37 326811; E-mail: Milda.Endziniene@kaunoklinikos.lt
Brigita Šitkauskienė, allergist and clinical immunologist, professor, MD, PhD.
Areas of interest: peculiarities of the immune response in the presence of rare skin diseases.
Phone: +370 37 326551; E-mail: Brigita.Sitkauskiene@kaunoklinikos.lt
Asta Baranauskaitė, rheumatologist, professor, MD, PhD.
Head of the Department of Rheumatology
Areas of interest: systemic connective tissue dieases.
Phone: +370 37 326234; E-mail: Asta.Baranauskaite@kaunoklinikos.lt
Virginija Ašmonienė, geneticist, MD, PhD.
Head of the Department of Genetics and Molecular Medicine.
Areas of interest: prenatal diagnostics of rare diseases.
Phone: +370 37 326771; E-mail: Virginija.Asmoniene@kaunoklinikos.lt
Vidas Pilvinis, anaesthesiologist-resuscitation specialist, professor, MD, PhD.
Head of the Department of Intensive Care. 
Areas of interest: critical conditions of rare skin diseases.
Phone: +370 37 326217; E-mail: Vidas.Pilvinis@kaunoklinikos.lt
Jūratė Buinauskienė, neonatologist, professor, MD, PhD.
Areas of interest: congenital developmental, skin, and metabolic disorders.
Phone: +370 37 326797; E-mail: jbuinauskiene@yahoo.com
Jolanta Kudzytė, paediatrician, associate professor, MD, PhD.
Areas of interest: children’s skin diseases.
Phone: +370 37 327092; E-mail: Jolanta.Kudzyte@kaunoklinikos.lt

Birutė Žilaitienė, endocrinologist, MD, PhD, professor
Phone: +370 37 326868, +370 37 326506
E-mail: birute.zilaitiene@kaunoklinikos.lt
Areas of interest: reproductive endocrinology, hypothalamus and pituary gland disorders, thyroid pathology.

Coordinator

Rasa Laurinavičiūtė
Administrator, Department of Skin and Venereal Diseases
Phone: +370 37 326246
E-mail: odos.veneriniu.ligu.klinika@kaunoklinikos.lt, rasa.laurinaviciute@kaunoklinikos.lt
The Area of Expertise

The Centre of Rare Skin Diseases participates in the activities of ERN on Rare and Undiagnosed Skin Disorders (ERN-Skin) in five clinical groups of rare skin diseases:
Epidermolysis bullosa, 
Ichthyosis and palmoplantar keratoderma, 
Ectodermal dysplasia, 
Autoimmune bullous diseases and severe cutaneous drug reactions, 
Acquired immunological low prevalence and complex adult diseases of the skin.

The table of rare skin diseases, ICD-AM and ORPHA codes (see below).

Specialised Interventions

The Department of Skin and Venereal Diseases coordinates the activity of the Centre of Rare Skin Diseases (CRSD) and provides specialised outpatient and inpatient services (digital dermatoscopy and SIAscopy, high-frequency ultrasound, skin biopsy, skin contact allergy tests, microscopic and microbiological tests for skin infections, cryotherapy, outpatient dermatosurgery, narrowband ultraviolet B therapy, and bath PUVA therapy).

Collaboration with experienced dermatopathologists facilitates the diagnosis of rare skin diseases via immunohistochemistry (collagen type IV, identification of the inflammation phenotype), direct immunofluorescence of the skin (IGA, IGG, C3 complement, fibrinogen etc.)

The Department of Plastic and Reconstructive Surgery of the Hospital of the Lithuanian University of Health Sciences (LUHS) provides specialised surgical treatment for patients with complications of congenital bullous diseases and hidradenitis suppurativa.

Research Projects or Clinical Trials in the Area of Rare Skin Diseases

Clinical trial in the area of Dermatology, Children’s Ichthyosis, phase IV (2007-2008).

The Centre of Rare Skin Diseases participates in the activities of the project European Reference Network on Rare and Undiagnosed Skin Disorders-ERN-Skin (Nr. HP-ERN-2016, http://ec.europa.eu/chafea/health/hp-ern-2016_en.html ).

Patient education materials

Patient education materials on rare skin diseases are accessible on the links:

Genodermatoses and rare skin disorders: http://www.genodermatoses-network.org
Epidermolysis bullosa: http://www.debra-international.org/patients.html
Ichthyosis: http://www.firstskinfoundation.org/content.cfm/Ichthyosis/What-is-Ichthyosis/page_id/952
Autoimmune bullous diseases: http://rarediseases.org/rare-diseases/autoimmune-blistering-diseases/
Hidradenitis suppurativa: http://patient.info/health/hidradenitis-suppurativa-leaflet   
Websites Related to the Activities 

Experts of the EB Clinet (international network of epidermolysis bullosa): http://www.eb-clinet.org/partners/current-partners.html

The international network of genodermatoses and rare skin disorders: http://www.genodermatoses-network.org

European Hidradenitis Suppurativa Foundation http://www.ehsf.eu/

Collaboration

Lithuanian University of Health Sciences: www.lsmuni.lt

Kaunas Region Society of Dermatology and Venereology: www.kkdvd.lt

Lithuanian Society of Psoriatic Patients: www.zvyneline.info

National Alopecia Association: http://alopecia.lt

Conferences Organized

Annual meetings in February are dedicated to rare skin diseases. Web link: www.kkdvd.lt

Head prof. Jūratė Masalskienė
MD, PhD, pediatric nephrologist
Phone: +37037326286
E-mail: jurate.masalskiene@kaunoklinikos.lt

Head assoc. prof. Rima Šileikienė
MD, PhD, pediatric cardiologist
Phone: +37037326272
E-mail: rima.sileikiene@kaunoklinikos.lt
Areas of interest: rare cardiovascular diseases, echocardiography.

Head prof. Inga Skarupskienė
MD, PhD, nephrologist
Phone: +37037326990
E-mail: inga.skarupskiene@kaunoklinikos.lt 
Areas of interest: resistant arterial hypertension, acute renal failure, glomerular disease, rare kidney diseases.

Head Viktoras Rudžianskas
MD, PhD, radio-oncologist
Phone: +37037326196
E-mail: viktoras.rudzianskas@kaunoklinikos.lt
Areas of interest: diagnosis and treatment of head and neck tumours, innovations in radiotherapy (intensity modulated radiotherapy, stereotactic radiotherapy, high-dose brachytherapy).

Head assoc. prof. Kristina Biekšienė
MD, PhD, pulmonologist
Phone: +37037326544
E-mail: kristina.bieksiene@kaunoklinikos.lt
Areas of interest: asthma, chronic cough, chronic obstructive pulmonary disease, interstitial lung disease, lung cancer.

Head Giedrė GELŽINIENĖ, MD, PhD
El. p. giedre.gelziniene@kaunoklinikos.lt
Tel. +37037326634

Team members:

Neurologists: 
Giedrė Jurkevičienė, MD, PhD 
Adult neurologist, EEG evaluation (giedre.jurkeviciene@kaunoklinikos.lt)

Giedrė Gelžinienė, MD, PhD
 Adult neurologist, EEG evaluation (giedre.gelziniene@kaunoklinikos.lt)

Gineta Liutkienė MD, PhD 
Adult neurologist, EEG evaluation (gineta.liutkiene@kaunoklinikos.lt)

Vanda Jaškevičienė, MD
Adult neurologist (vanda.jaskeviciene@kaunoklinikos.lt)

Milda Endzinienė, MD, PhD
Pediatric neurologist (milda.endziniene@kaunoklinikos.lt)

Jūratė Laurynaitienė, MD, PhD 
Pediatric neurologist (jurate.laurynaitiene@kaunoklinikos.lt)

Kristina Zaveckienė, MD 
Pediatric neurologist, EEG evaluation (kristina.zaveckiene@kaunoklinikos.lt)

Lingvita Gumbelevičienė, MD 
Pediatric neurologist, EEG evaluation (lingvita.gumbeleviciene@kaunoklinikos.lt)

Jurgita Karandienė, MD 
Pediatric neurologist, EEG evaluation (j.karandiene@gmail.com)

Neonatologists: 
Dalia Stonienė, MD, PhD (dalia.stoniene@kaunoklinikos.lt)

Aušrelė Kudrevičienė, MD, PhD (ausrele.kudreviciene@kaunoklinikos.lt)

Reanimatologists:
Tomas Tamošuitis, MD, PhD (adults) (tomas.tamosuitis@kaunoklinikos.lt)
Vaidotas Gurskis, MD, PhD (children) (vaidotas.gurskis@kaunoklinikos.lt)

Neurosurgeons: 
Vytenis Pranas Deltuva, MD, PhD (vytenis.deltuva@kaunoklinikos.lt)
Andrius Radžiūnas, MD, PhD (andrius.radziunas@kaunoklinikos.lt)
Algimantas Matukevičius, MD, PhD (algimantas.matukevicius@kaunoklinikos.lt)
Mindaugas Urbonas, MD (mindaugas.urbonas@kaunoklinikos.lt)

Neuropsychologists: 

Aistė Pranckevičienė, MS, PhD (aiste.pranckeviciene@lsmuni.lt)
Vitalija Marmienė, MS (vitalija.marmiene@kaunoklinikos.lt)

Clinical nurse: 
Daiva Borkienė, MS (daiva.borkiene@kaunoklinikos.lt)

Clinical geneticists: 
Virginija Ašmonienė, MD, PhD (virginija.asmoniene@kaunoklinikos.lt)
Rasa Traberg (rasa.traberg@kaunoklinikos.lt)
Lina Basel-Salmon, MD, PhD (Israel, Consultant)

Epilepsy center (EC) manages the healthcare of adult and pediatric patients with rare, complex epilepsies. It is a functional centre which coordinates the activities of all the relevant hospital units involved in the care of epilepsy cases. 
EC provides evaluation and treatment of patients with epilepsy according to high quality international standards. Patients with rare, complex disorders that require multidiscipline and personalized attitude are treated in the EC. 
The main functions of the EC are fulfilled by Neurology department in close cooperation with departments of Neurosurgery, Radiology, Pediatric diseases, Genetics and Molecular Medicine, Laboratory Medicine, Psychiatry, Rehabilitation, Pathological Anatomy, Anaesthesiology (Picture 1). Other departments take part in the multidisciplinary approach of epilepsy patients if needed. 
Picture 1. Organisation and intergration of multidisciplinar HLUHS KK Epilepsy Center 
 

The structure and coordination of the Centre's multidisciplinary, professional competence and long experience in the field of epilepsy ensure the highest level of service with a complex, rare, or combined treatment resistant epilepsy. 
Multidisciplinary meetings are organzed for all complicated and drug-resistant epilepsy cases, in particular: whenever surgery, vagus nerve stimulation or ketogenic diet is considered, also before transferring a child with complex epilepsy to adult care, or when an application for the reimbursement for an orphan treatment is considered. Besides, multidisciplinary epilepsy team members take part in the diagnostic process and follow-up of epilepsy patients after surgery, VNS and those on ketogenic diet according to the approved schedule, and have common discussions on the cases in the course of epilepsy whenever need.
The core unit of EC is Neurology department which provides secondary and tertiary level health service for neurological and pediatric neurological patients from Lithuania and abroad. Neurology Department consists of Adult and Pediatric Neurology units with out-patient and in-patient departments. Subunits for adult and pediatric patients with Epilepsy and other paroxysmal disorders are present. 
In the EEG laboratory all the type of EEG recordings are available including long-term video – EEG monitoring and invasive/intraoperative EEG recordings. There are 5 stationary EEG machines and one portable EEG device for EEG recordings in the adult, pediatric and newborn intensive care units, other departments or operation theatre. EEG during PET evaluation is also recorded.  

Scientific publications in the field of epilepsy: 

1.    Budrys, Tomas; Basevičius, Algidas; Gleiznienė, Rymantė; Jurkevičienė, Giedrė et al. Comparative analysis of epileptogenic changes detected on the PET/CT, EEG and MRI scans and their correlation with post-surgery outcomes // Informatica. Vilnius : Institute of Mathematics and Informatics. ISSN 0868-4952. 2018, vol. 29, no. 3, p. 421-38. 

2.     Jesmanas, Simonas; Norvainytė, Kristina; Gleiznienė, Rymantė; Šimoliūnienė, Renata; Endzinienė, Milda. Different MRI-defined tuber types in tuberous sclerosis complex: Quantitative evaluation and association with disease manifestations // Brain & Development. Amsterdam : Elsevier. ISSN 0387-7604. 2018, vol. 40, no. 3, p. 196-204. 

3.    Kučinskas L, Jurkevičiūtė G, Gleiznienė R. KT ir MRT epilepsijos diagnostikoje: metodai, radiniai, galimybės. ISSN: 1392-3064 ; DOI: 10.29014/ns.2018.11. UDK: 616.853. Neurologijos seminarai = Seminars in Neurology. Vilnius : Rotas 2018, t. 22, Nr. 2(76). p. 89-98.

4.    Knaus, Alexej; Pantel, Jean Tori; Pendziwiat, Manuela; Hajjir, Nurulhuda; Zhao, Max; Hsieh, Tzung-Chien; Schubach, Max; Gurovich, Yaron; Fleischer, Nicole; Jäger, Marten; Köhler, Sebastian; Muhle, Hiltrud; Korff, Christian; Møller, Rikke S; Bayat, Allan; Calvas, Patrick; Chassaing, Nicolas; Warren, Hannah; Skinner, Steven; Louie, Raymond; Evers, Christina; Bohn, Marc; Christen, Hans-Jürgen; van den Born, Myrthe; Obersztyn, Ewa; Charzewska, Agnieszka; Endzinienė, Milda; Kortüm, Fanny; Brown, Natasha; Robinson, Peter N; Schelhaas, Helenius J; Weber, Yvonne; Helbig, Ingo; Mundlos, Stefan; Horn, Denise; Krawitz, Peter M. Characterization of glycosylphosphatidylinositol biosynthesis defects by clinical features, flow cytometry, and automated image analysis // Genome Medicine. London : BioMed Central. ISSN 1756-994X. 2018, vol. 10, no. 1, p. 1-13. 

5. Budrys, Tomas; Jurkevičiūtė, Greta; Kučinskas, Laurynas; Gleiznienė, Rymantė; Jurkevičienė, Giedrė; Basevičius, Algidas. Advanced imaging in epilepsy: literature review and our experience // Radiology update. Kaunas : Lithuanian Society of Radiology. eISSN 2424-5755. 2018, vol. 2(3), p. 60-. [IndexCopernicus] 

6.    Kučinskas, Laurynas; Jurkevičiūtė, Greta; Gleiznienė, Rymantė; Jurkevičienė, Giedrė. Epilepsijos diagnozavimas: vaizdinių galvos smegenų ir elektroencefalografijos tyrimų svarba bei sąsajos = Diagnosing epilepsy: The associations between EEG and neuroimaging // Lietuvos bendrosios praktikos gydytojas. Kaunas : Vitae Litera. ISSN 1392-3218. 2018, t. 22, Nr. 4, p. 216-22. 

7.    Šmigelskytė, Agnė; Remenčiūtė, Monika; Gelžinienė, Giedrė; Jurkevičienė, Giedrė. Potrauminės epilepsijos ypatumai // Neurologijos seminarai = Seminars in Neurology. Vilnius : Rotas. ISSN 1392-3064. eISSN 2424-5917. 2018, t. 22, Nr. 3(77), p. 188-93. 

8.  Gelžinienė, Giedrė; Endzinienė, Milda; Jurkevičienė, Giedrė. EEG activation by neuropsychological tasks in idiopathic generalized epilepsy of adolescence // Brain & Development. Amsterdam : Elsevier. ISSN 0387-7604. 2015, vol. 37, no. 4, p. 409-17.

9.  Jurkevičienė, Giedrė; Endzinienė, Milda; Laukienė, Ilona; Šaferis, Viktoras; Rastenytė, Daiva; Plioplys, Sigita; Vaičienė-Magistris, Nerija. Association of language dysfunction and age of onset of benign epilepsy with centrotemporal spikes in children // European Journal of Paediatric Neurology. London ; Philadelphia : Saunders. ISSN 1090-3798. 2012, vol. 16, no. 6, p. 653-61. 

10.    Krauss, Gregory Lewis; Bar, Michal; Biton, Victor; Klapper, JA; Rektor, Ivan; Vaičienė-Magistris, Nerija; Squillacote, Christopher David; Kumar, D. Tolerability and safety of perampanel: two randomized dose-escalation studies // Acta Neurologica Scandinavica. Hoboken : Wiley-Blackwell. 2012, vol. 125, no. 1, p. 8-15. 

11.    Krauss, Gregory Lewis; Serratosa, J M; Villanueva, V; Endzinienė, Milda; Hong, Z; French, J; Yang, H; Squillacote, D; Edwards, H B; Zhu, J; Laurenza, A. Randomized phase III study 306: Adjunctive perampanel for refractory partial-onset seizures // Neurology. Hagerstown : Lippincott Williams & Wilkins. ISSN 0028-3878. 2012, vol. 78, iss. 18, p. 1408-15. 

12.    Rektor, Ivan; Krauss, Gregory Lewis; Bar, M; Biton, Victor; Klapper, Jack A; Vaičienė-Magistris, Nerija; Kuba, R; Squillacote, D; Gee, M; Kumar, D. Perampanel Study 207 : long-term open label evaluation in patients with epilepsy // Acta neurologica Scandinavica. Hoboken, NJ : Wiley-Blackwell. ISSN 0001-6314. 2012, vol. 126, no. 4, p. 263-269. 

13.    Samaitienė, Rūta; Norkūnienė, Jolita; Jurkevičienė, Giedrė; Grikinienė, Jurgita. Behavioral problems in children with benign childhood epilepsy with centrotemporal spikes treated and untreated with antiepileptic drugs // Medicina. Kaunas : Lietuvos sveikatos mokslų universitetas. ISSN 1010-660X. 2012, t. 48, Nr. 7, p. 338-44. 

14.    Gelžinienė, Giedrė; Jurkevičienė, Giedrė; Marmienė, Vitalija; Adomaitienė, Virginija; Endzinienė, Milda. Executive functions in adolescents with idiopathic generalized epilepsy // Medicina. Kaunas : Lietuvos sveikatos mokslų universitetas. ISSN 1010-660X. 2011, t. 47, Nr. 6, p. 313-319.

15.    Endzinienė, Milda; Stonkutė, Rasa. Epilepsinė būklė // Neurologijos seminarai = Seminars in Neurology. Vilnius : Rotas. ISSN 1392-3064. 2015, t. 19, Nr. 1(63), p. 5-12. [IndexCopernicus] 

16.    Gelžinienė, Giedrė; Endzinienė, Milda. Klinikiniai ir elektroencefalografiniai jaunuolių idiopatinės generalizuotos epilepsijos požymiai // Neurologijos seminarai = Seminars in Neurology. ISSN 1392-3064. 2011, T. 15, Nr. 2(48), p. 119-27. 

17.    Gelžinienė, Giedrė; Šimaitytė, Inga; Endzinienė, Milda. Paauglių, sergančių idiopatine generalizuota epilepsija, nerimo ir depresijos simptomai // Neurologijos seminarai = Seminars in Neurology. ISSN 1392-3064. 2011, T. 15, Nr. 1(47), p. 44-51. 

18. Butvilas D, Kriščiūnas A, Endzinienė M, Jurkevičienė G, Švedaitė-Sakalauskė B.Jaunų žmonių, sergančių epilepsija, gyvenimo pilnatvė. Neurologijos seminarai 2010; 14(44): 86-92.20. 

19. Butvilas D, Kriščiūnas A, Endzinienė M, Jurkevičienė G, Švedaitė-Sakalauskė B.
Jaunų žmonių, sergančių epilepsija, reabilitacijos efektyvumas. Neurologijos seminarai 2010; 14(44): 93-99. 

20. Endzinienė M. Sunki kūdikių miokloninė epilepsija (Dravet sindromas). Neurologijos seminarai 2010; 14(43): 5-15.

21.    Gelžinienė G, Endzinienė M, Vaičienė N, Magistris MR, Seeck M. Presurgical evaluation of epilepsy patients. Medicina (Kaunas). 2008;44(8):585-92.

Abstracts of presentations at international congresses (2016-2018)
1. Budrys T, Basevicius A, Gleizniene R,  Jurkeviciene G, Kulakiene I, Jurevicius T, Correlation of epileptogenic changes detected on PET/CT, MRI and electrophysiological studies // 7th Baltic congress of radiology - BCR : 4-6 October, 2018, Kaunas, Lithuania: online abstract book 2018. ISBN 9786099575063. p. 61-62. 
2. Gelžinienė G. Outcome of childhood-onset epilepsy: transition to adulthood // Neurologijos seminarai = Seminars in neurology : BALCONE 2018 - 9-asis Baltijos šalių neurologijos kongresas = 9th Baltic Congress of Neurology : Kaunas, Lietuva 2018 m. rugsėjo 6-8 d. = September 6-8, 2018, Kaunas, Lithuania : mokslinė programa ir pranešimų santraukos = scientific program and abstracts. ISSN 1392-3064. eISSN 2424-5917. 2018, t. 22, Nr. 3(77), no. OP17, p. 241. [IndexCopernicus]
3. Stonkutė R,  Karandienė J, Endzinienė M. The patients with epilepsy: quality of life // Neurologijos seminarai = Seminars in neurology : BALCONE 2018 - 9-asis Baltijos šalių neurologijos kongresas = 9th Baltic Congress of Neurology : Kaunas, Lietuva 2018 m. rugsėjo 6-8 d. = September 6-8, 2018, Kaunas, Lithuania : mokslinė programa ir pranešimų santraukos = scientific program and abstracts. Vilnius : Rotas. ISSN 1392-3064. eISSN 2424-5917. 2018, t. 22, Nr. 3(77), no. PP24, p. 278. [IndexCopernicus] 
4. Žilionytė M, Pranckevičienė A,  Endzinienė M. Public attitudes on social aspects of epilepsy reflected on internet portals // Neurologijos seminarai = Seminars in neurology : BALCONE 2018 - 9-asis Baltijos šalių neurologijos kongresas = 9th Baltic Congress of Neurology : Kaunas, Lietuva 2018 m. rugsėjo 6-8 d. = September 6-8, 2018, Kaunas, Lithuania : mokslinė programa ir pranešimų santraukos = scientific program and abstracts. Vilnius : Rotas. ISSN 1392-3064. eISSN 2424-5917. 2018, t. 22, Nr. 3(77), no. PP30, p. 281. [IndexCopernicus] 
5. Endzinienė M.  Comprehensive management of tuberous sclerosis: what TOSCA registry prompts us? // 14th conference of the Baltic Child Neurology Association (BCNA) : May 18-20, 2017, Riga, Latvia : Program and abstracts / Baltic Child Neurology Association (BCNA). Riga : Baltic Child Neurology Association (BCNA). 2017, p. 12-12. 
6. Gumbelevičienė L, Borkienė D, Liutkienė G, Endzinienė M, Gleiznienė R, Žvinienė K, Pocevičienė, I, Ašmonienė V. Tuberous sclerosis complex: a review of clinical aspects // 14th conference of the Baltic Child Neurology Association (BCNA) : May 18-20, 2017, Riga, Latvia : Program and abstracts / Baltic Child Neurology Association (BCNA). Riga : Baltic Child Neurology Association (BCNA). 2017, p. 31-31.
7. Karandienė J, Stonkutė R, Endzinienė M.  The Adolescents and adults with epilepsy: knowledge and quality of life // 14th conference of the Baltic Child Neurology Association (BCNA) : May 18-20, 2017, Riga, Latvia : Program and abstracts / Baltic Child Neurology Association (BCNA). Riga : Baltic Child Neurology Association (BCNA). 2017, p. 36-36. 
8. Endzinienė M, Gumbelevičienė L, Jonuškaitė D, Praninskienė R, Čerkauskienė R. Efficacy and safety of everolimus treatment in tuberous sclerosis complex: Lithuanian experience //14th International Child Neurology Congress (ICNC 2016) : 1-5 May 2016 Amsterdam, the Netherlands : poster abstract book / International Child Neurology Association (ICNA). Amsterdam : International Child Neurology Association. 2016, p. 154-154, no. ICNC-0762. [M.kr.: 06B
9. Genc D, Vaičienė-Magistris  N, Liutkienė G. Epilepsy with phantom absences: long-term follow-up // 14th International Child Neurology Congress (ICNC 2016): 1-5 May 2016 Amsterdam, the Netherlands : poster abstract book / International Child Neurology Association (ICNA). Amsterdam: International Child Neurology Association. 2016, p. 60, no. ICNC-0280.

Other publications: 

Clinical practice guidelines
„Vaikų tuberozinė sklerozė: diagnostika, gydymas, ilgalaikė stebėsena“ (in Lithuanian, “Diagnosis, treatment and long-term follow up of childhood tuberous sclerosis“ (prepared as part of the EU/Lithuanian Ministry of Health project “Establishment of Pediatric Rare Diseases Competence Centre at the Hospital of Lithuanian University of Health Sciences Kauno klinikos”, approved by Lithuanian University of Health Sciences, Vilnius University, Lithuanian Child Neurology Association, and  Lithuanian Academy of Childhood Disability). Authors:  Endzinienė M, Gumbelevičienė L, Masalskienė J, Kaunas 2018.
Protocols approved by the Ministry of Health, Republic of Lithuania (in Lithuanian): https://sam.lrv.lt/diagnostikos-gydymo-metodikos-ir-rekomendacijos/diagnostikos-ir-gydymo-protokolai (pilnas tekstas: “23 rizikingiausi vaikų ligų srities diagnostikos ir gydymo protokolai (spausti čia, išsiskleis suglaudintas failas“):
-    „VAIKŲ EPILEPSIJOS DIAGNOSTIKA IR GYDYMAS“(„Diagnosis and management of childhood epilepsy“). Authors: Endzinienė M, Vaičienė-Magistris N.  2015.
-    “VAIKŲ TRAUKULIŲ DIAGNOSTIKA IR GYDYMAS” (“Diagnosis and management of seizures in childhood”). Authors: Endzinienė M, Vaičienė-Magistris N. 2015.
-    INFANTILINIŲ SPAZMŲ DIAGNOSTIKA IR GYDYMAS (“Diagnosis and management of infantile spasms”). Authors: Vaičienė-Magistris N, Endzinienė M.

Other publications
Printed educational material for patients and families (“Epilepsy”, “Childhood Epilepsy”, „Women and Epilepsy, Part 1-3,“Tuberous Sclerosis”, etc.).
Translation into Lithuanian and adaptation of The Modular Service Package Epilepsy (MOSES) [authors Baier H, Dennig D, Geiger-Ries M, et al].

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