Rylskytė, Neda

Background: The purpose of this study was to examine the changes in IOP, total macular and RNFL, ganglion cell layer (GCL) thickness, and aqueous humour flare in open angle glaucoma (OAG) patients before and 6 months after cataract surgery. Methods: This was a prospective observational case–control age- and gender-matched study. Groups: 40 subjects in a controlled OAG (OAGc) group, 20 subjects in an uncontrolled OAG (OAGu) group, and 60 control group subjects. Examination: complete ophthalmic evaluation, IOP measurement, anterior and posterior segment Optical Coherence Tomography (OCT), and laser flare photometry before and 6 months postoperatively. Results: Six months postoperatively IOP decreased in all groups. An increase in macular thickness was found postoperatively in all groups. Preoperative aqueous humour flare was higher in the OAGc group than in the control group. After cataract surgery, aqueous humour flare was higher in the control group compared to the preoperative result. Conclusions: Changes in IOP following cataract surgery were strongly negatively correlated with preoperative IOP. An increase in macular thickness was observed 6 months postoperatively in all groups. Aqueous humour flare did not differ in OAGc and OAGu groups pre- and postoperatively but significantly increased in the control group postoperatively.

Introduction. Tuberous sclerosis (TS) is a rare, multi systemic genetic disorder with an autosomal dominant inheritance. TS occurs due to mutation in tumor suppressor genes TSC1or TSC2, leading to abnormal production of proteins hamartin and tuberin, and therefore to the formation of hamartomas in multiple organs, including central nervous system, heart, lungs, kidneys, eyes, and skin. Case description. A 25-year-old male patient was referred by a neurologist to a Gastroenterology clinic due to multiple growing in size liver masses found on an abdominal ultrasound screening. It is known that the patient was clinically diagnosed with TS in childhood. Additionally, enucleation of bilateral renal angiomyo lipomas (AMLs) was performed 3 years ago. On the day of admission, the patient had no complaints and clinical examination was normal. Complete blood count, coagulation profile test, biochemical blood tests and cancer biomarkers(CA19-9, CEA, alpha-fetoprotein, chromogranin A) were within normal range, only ALT was slightly elevated. Markers for hepatitis B and C viruses were negative. Abdominal MRI showed multiple liver masses, ranging from 1 cm to 6 cm in diameter. Based on the radiological aspects and the clinical context we made the diagnosis of hepatic AMLs. To fully confirm a diagnosis of TS, genetic testing for mutations in TSC1 and TSC2 genes was performed and deletion of exons18-22 in TSC2 gene was detected. Due to normal liver function, it was proposed that the patient undergo regular follow-up abdominal MRI. Summary. In this clinical case we present a 25-year-old male patient diagnosed with TS with rare liver involvement. To clarify the diagnosis, the genetic testing for mutations in TSC1and TSC2 genes was done and a pathogenic mutation in TSC2 gene was identified. Conclusions. Liver involvement is uncommon in TS patients. They require follow-up evaluations and symptomatic treatment if liver function is impaired.

Introduction. Paraganglioma is a type of neuroendocrine tumor that forms near certain blood vessels and nerves outside of the adrenal glands. Paragangliomas are rare and usually benign tumours. It is estimated that only 2 people out of every 1 million people have para ganglioma. Case description. A 72-year-old female patient was referred to a gastroenterologist due to a large mass located between the left hepatic lobe, stomach and pancreas that was found during abdominal ultrasound screening. On the day of admission, the patient had no complaints and a hard, uneven, movable, painless mass was palpated in the epigastrium. Complete blood count, metabolic panel and cancer markers (CEA, chromogranin A) were within normal range. During esophagogastroduodenoscopy pressure from the outside to the antrum of stomach was observed. CT and MRI showed a 14,6x9,3x15,0 cm mass spreading from the proximal part of the duodenum and located between the left hepatic lobe, dorsally of the stomach and an terally of the pancreatic head. According to MRI, the mass was most likely a gastrointestinal stromal tumor, however a tumor biopsy confirmed rare neuroendocrine tumor - paraganglioma. The patient was consulted by a surgeon and after evaluating the possibilities and scope of surgical treatment regular follow-up evaluations were recommended. Summary. In this clinical case we present a 72-year-old female patient diagnosed with rare abdominal paraganglioma. To clarify the diagnosis of unusually large mass in the abdomen, CT and MRI imaging were done and a tumor biopsy of the mass confirmed rare neuroendocrine tumor - paraganglioma. Conclusions. Abdominal paragangliomas are rare and usually benign tumors. Depending on the size and spread of the paraganglioma, surgery or monitoring is recommended.

Esencialinė trombocitemija yra mieloproliferacinė liga, apibūdinama padidėjusiu trombocitų skaičiumi, specifiniais megakariocitų pokyčiais kaulų čiulpuose ir nespecifiniais klinikiniais simptomais. Šiame straipsnyje pristatoma 40 metų pacientė, besiskundžianti epizodiniu krūtinės skausmu ir dusuliu. Užrašius elektrokardiogramą (EKG) ir atlikus širdies echokardiografiją, bendrą kraujo tyrimą ir bėgimo takelio testą, buvo atmesta širdies ir kraujagyslių patologija. Pasikartojus intensyviam krūtinės skausmui ir įtarus ūminį koronarinį sindromą ar plaučių emboliją, pacientė buvo siunčiama į skubiosios pagalbos skyrių tolesniam ištyrimui. Atlikus būtinus tyrimus (EKG, troponinas I, D-dimerai, KT angiografija) abi diagnozės buvo atmestos. Esencialinė trombocitemija diagnozuota remiantis kaulų čiulpų trepanobiopsijos rezultatais ir JAK2 mutacijos nustatymu. Pacientė priskirta mažos rizikos grupei, todėl paskirtas gydymas aspirinu bei širdies ir kraujagyslių rizikos veiksnių korekcija. Darbo tikslas – pristatyti klinikinį atvejį ir aptarti naujausius esencialinės trombocitemijos diagnostikos ir gydymo principus.

Achromatopsija yra reta, autosominiu-recesyviniu būdu paveldima liga, pažeidžianti tinklainės fotoreceptorius kolbeles. Yra dvi ligos formos: tipinė (visiška) ir atipinė (nevisiška). Achromatopsijai būdingas prastas regos aštrumas, fotofobija, nistagmas, spalvinis aklumas. Diagnozė nustatoma remiantis būdingais simptomais, šeimine anamneze, regėjimo aštrumo įvertinimu, spalvų juslės testais bei oftalmobiomikroskopija, prireikus gali būti naudojami papildomi tyrimai: optinė koherentinė tomografija, elektroretinograma, kompiuterinė perimetrija, akių dugno autofluorescencija. Šiame straipsnyje pristatomas achromatopsijos klinikinis atvejis, kai pirmasis simptomas - nistagmas pasireiškė nuo 1 mėn. amžiaus.

The cornea is a transparent, avascular and abundantly innervated tissue through which light rays are transmitted to the retina. The innermost layer of the cornea, also known as the endothelium, consists of a single layer of polygonal endothelial cells that serve an important role in preserving corneal transparency and hydration. The average corneal endothelial cell density (ECD) is the highest at birth (~3,000 cells/mm2), which then decrease to ~2,500 cells/mm2 at adulthood. These endothelial cells have limited regenerative potential and the minimum (critical) ECD required to maintain the pumping function of the endothelium is 400‑500 cells/mm2. ECD < the critical value can result in decreased corneal transparency, development of corneal edema and reduced visual acuity. The condition of the corneal endothelium can be influenced by a number of factors, including systemic diseases, such as diabetes or atherosclerosis, eye diseases, such as uveitis or dry eye disease (DED) and therapeutic ophthalmological interventions. The aim of the present article is to review the impact of the most common systemic disorders (pseudoexfoliation syndrome, diabetes mellitus, cardiovascular disease), eye diseases (DED, uveitis, glaucoma, intraocular lens dislocation) and widely performed ophthalmic interventions (cataract surgery, intraocular pressure‑lowering surgeries) on corneal ECD.

Dilatacinė kardiomiopatija yra širdies raumens patologija, kuri išsivysto dėl genetinių ir aplinkos veiksnių derinio. Šiai ligai būdingi širdies nepakankamumo klinikiniai požymiai, įvairūs ritmo ir laidumo sutrikimai, angininio pobūdžio krūtinės skausmas. Dilatacinė kardiomiopatija diagnozuojama remiantis klinikiniais simptomais ir instrumentiniais tyrimais, paneigiant įgimtas širdies ydas, vainikinių arterijų, hipertenzines ligas, vožtuvų patologiją. Nediagnozuota ir negydoma liga didina staigios širdinės mirties riziką. Straipsnyje pristatomas klinikinis atvejis, kai pacientui dilatacinė kardiomiopatija pirmą kartą pasireiškė stenokardiniais skausmais ir gyvybei grėsmingais ritmo sutrikimais (paroksizmine skilveline tachikardija, skilvelių virpėjimu).