Grigalionytė, Ieva

Pilvinė aortos aneurizma (PAA) – tai patologinis aor­tos sienelės išsiplėtimas pilvo srityje, dažnai besimp­tomis, tačiau plyšimo atveju galintis sukelti itin didelį mirtingumą. Dėl sudėtingos chirurginės intervencijos ir reikšmingų kraujotakos pokyčių operacijos metu tampa būtina nuolatinė išplėstinė hemodinamikos stebėsena. Šiam tikslui gali būti naudojama impedanso kardiogra­fija – neinvazinis, paprastas ir ekonomiškas metodas, lei­džiantis realiu laiku vertinti širdies ir kraujagyslių būseną. Tyrimo tikslas buvo įvertinti hemodinamikos pokyčius skirtingose pilvinės aortos aneurizmos operacijos fazėse, pasitelkiant impedanso kardiografiją. LSMUL Širdies, krūtinės ir kraujagyslių chirurgijos klinikoje 2023–2024 m. atliktas retrospektyvus tyrimas, į kurį buvo įtraukti keturi vyresnio amžiaus vyrai, kuriems atliktos planinės atviros pilvo aortos protezavimo operacijos. Tyrimo metu buvo analizuojamas minutinis širdies tūris, aortos užspau­dimo trukmės ir kraujo netekimo duomenys. Rezultatai atskleidė, kad didžiausi minutinio širdies tūrio svyravimai buvo stebimi po aortos atspaudimo pirmoje kojoje 9,5 ± 4,0 L/min. Minutinio širdies tūrio pokyčiai skirtingais pilvinės aortos aneurizmos operacijos etapais statistiškai reikšmingai nesiskyrė (p = 0,21). Netekto kraujo kiekis operacijos metu siekė – 700 ± 212 ml, o aortos užspau­dimo trukmė vidutiniškai buvo 58,8 ± 23,0 minutės.

Kokliušas yra užkrečiama bakterinė kvėpavimo takų liga, kurią sukelia Bordetella pertussis bakterija. Lietuvoje nuo 2021 iki 2024 metų iš viso užregistruoti 6 kokliušo atvejai asmenims iki 18 metų. Šiai ligai būdingi paroksizminiai kosulio priepuoliai, dažnai lydimi vėmimo ir apnėjos. Sunkios ligos formos, sukeliančios rimtų komplikacijų, dažniausiai pasitaiko mažiems vaikams ir kūdikiams. Vaikų, nėščiųjų ir šeimos narių vakcinacija yra pagrindinė prevencinė priemonė kovojant su kokliušu, siekiant sumažinti sergamumą ir užkirsti kelią sunkioms ligos formoms, ypač kūdikiams, kurie dar per jauni imunizacijai. Straipsnyje pristatomi mėnesio ir 8 metų vaikų kokliušo klinikiniai atvejai, aptariama epidemiologija, klinikinė raiška, diagnostikos metodai, gydymo strategijos bei galima ligos baigtis.

Su febrilia infekcija susijęs epilepsijos sindromas (FIRES) yra retas neaiškios etiologijos epilepsijos sindromas, kurio metu po karščiavimo epizodo pasireiškia dažni epilepsijos priepuoliai. Aprašomas 6 metų paciento, sergančio FIRES, klinikinis atvejis. Pacientui skirtas kompleksinis gydymas imunoterapija, vaistais nuo epilepsijos ir pradėta taikyti ketogeninė dieta. Dėl FIRES retumo trūksta geros kokybės tyrimų, kuriais vadovaujantis būtų galima užtikrinti tinkamą šių pacientų priežiūrą. Pristatydami šį klinikinį atvejį ir literatūros apžvalgą, aptariame savo patirtį, gydant FIRES sergantį pacientą. Gydymas ketogenine dieta, tocilizumabu ir anestetiku propofoliu buvo sietinas su dislipidemija ir pankreatitu. Nors dabartinėse FIRES gydymo gairėse kol kas trūksta duomenų apie kanabidiolio naudą, mūsų paciento atveju gydant kanabidioliu stebėtas reikšmingas epilepsijos priepuolių sumažėjimas. Dėl FIRES retumo ir sudėtingumo, tikslinga didinti budrumą dėl vaistų šalutinio poveikio bei aprašyti veiksmingus gydymo būdus.

Eozinofilinis ezofagitas (EoE) yra liga, kuri vis dažniau diagnozuojama tiek vaikams, tiek suaugusiesiems. Jos paplitimas pasaulyje tiksliai nėra žinomas, tačiau naujausi tyrimai rodo, kad EoE serga apie 4,3 iš 10 000 vaikų. EoE diagnozė nustatoma remiantis klinikiniais simptomais ir patologiniais radiniais, aptinkamais stemplės gleivinės biopsijoje. Būdinga, kad stemplės bioptate randama ≥15 eozinofilų, nustatytų didelio padidinimo lauke. Klinikiniai ligos požymiai dažniausiai apima gastroezofaginio refliukso simptomus arba stemplės disfunkciją. Šiuo metu nėra standartizuotų EoE gydymo protokolų. Labai svarbu skirti tinkamą EoE gydymą, nes netinkamai gydoma liga gali sukelti lėtinį uždegimą, struktūrinius pakitimus, blogesnę gyvenimo kokybę. Gydymui gali būti taikoma dietoterapija, vietiniai ar sisteminiai kortikosteroidai, imunomoduliacinė terapija arba endoskopinė stemplės dilatacija. Gydymo metodas parenkamas atsižvelgiant į paciento amžių ir ligos stadiją, dažnai naudojant kelių būdų derinį. Kai kuriems kūdikiams ir mažiems vaikams EoE gali būti sukeltas maisto alergenų, dažniausiai pieno baltymo. Šiais atvejais gali įvykti visiška remisija, kai organizmas pradeda toleruoti alerginį maistą. Vis dėlto daugumai pacientų EoE pasireiškia kaip lėtinė, recidyvuojanti liga. Straipsnyje aprašomas eozinofilinio ezofagito klinikinis atvejis. EoE yra retas vaikų amžiuje, todėl kelia diagnostikos ir gydymo iššūkius. Laiku įtarti, diagnozuoti eozinofilinį ezofagitą yra labai svarbu, nes uždelsta diagnozė gali lemti ligos progresavimą, komplikacijas ir gyvenimo kokybės paglobėjimą.

Background and Aims: Background. Osteogenesis imperfecta (fragile bone disease) is a genetic disease characterized by bone fragility and risk of fracture. Osteogenesis imperfecta is usually caused by changes in type I collagen. It is a genetically and clinically heterogeneous disease with an incidence of approximately 1 in 10,000 to 1 in 20,000. The aim. The purpose of this article is to provide a literature review on the fragile bone disease of children – osteogenesis imperfecta and to present a clinical case of a 15-year-old patient with osteogenesis imperfecta (OI).Methods: Methodology. Scientific literature was reviewed using the PubMed database. Publications written in English and corresponding to the purpose of the article were selected. Results. Osteogenesis imperfecta is a rare bone disease. It is important to notice the characteristic clinical signs and prescribe the necessary tests and treatment in time. Our patient has undergone multiple traumatic orthopedic surgeries for bone fractures. This genetic disease is incurable, so the patient must be careful of falls or actions that can cause bone fractures. Conclusions: Osteogenesis imperfecta can be diagnosed with X-rays, bone density tests, and genetic testing. The late form of osteogenesis imperfecta is more favorable, although it limits the quality of life. The goals of treatment for osteogenesis imperfecta are to increase bone strength, reduce fracture risk, reduce pain, increase mobility and functional independence, and prevent long-term complications.

Introduction. Alpha-gal syndrome (AGS) is an exceptional allergic reaction to mammalian meat that is associated with tick bites and caused by a specific immunoglobulin E (IgE) antibody to the oligosaccharide galactose-α-1,3-galactose (alpha-gal). AGS is difficult to diagnose, partly because reactions are delayed 3–6 hours after exposure, and patients often tolerate red meat for many years before developing allergic reactions. AGS is frequently misdiagnosed as idiopathic anaphylaxis. This case highlights the importance of diagnostic and dietary interventions in the identification and management of AGS. Case description. A 39-year-old woman presented with recurrent episodes of pruritus, urticaria and gastrointestinal symptoms (vomiting, abdominal cramping), accompanied by syncope 2-4 hours after consuming meat. The symptoms were initially non-specific and mild, but later progressed to severe. Tests for allergen-specific IgE to food molecular components shows sensitivity to mammalian meat. Positive skin prick tests with native allergens (gelatin, beef, lamb) were followed by the α-galspecific IgE test, which yielded a positive result (13.2 IU/mL). Based on symptoms and laboratory findings, the patient was diagnosed with AGS and started on a strict mammalian meat elimination diet, which significantly reduced the rates of symptoms recurrence. Summary. AGS is a rare and often misdiagnosed condition due to its delayed reactions. This case highlights the importance of detailed diagnostic tools, such as allergen testing and dietary interventions, in identifying AGS. Conclusions. Diagnosing AGS requires careful evaluation due to its delayed reactions and non-specific symptoms. Diagnostic accuracy can be improved by the use of native allergen skin test and α-gal-specific IgE testing. Strict dietary elimination of mammalian meat has been shown to effectively reduce symptoms of related allergy.

Introduction. Pertussis is a highly contagious bacterial respiratory infection characterized by paroxysmal coughing fits accompanied by vomiting and apnea. (1) Severe forms of the disease predominantly affect infants and may lead to complications such as respiratory failure, cardiac insufficiency, and encephalitis. (2) Case description. A 6-month-old infant was hospitalized due to persistent coughing and oxygen dependence. As respiratory failure progressed and apnea episodes worsened, accompanied by significant desaturation, the patient was intubated, and mechanical ventilation was initiated. Blood tests revealed increasing hyperleukocytosis and chest X-rays showed atelectasis. The medical history revealed that the patient’s parents had refused vaccinations for children, and sister at home had been coughing for three weeks. Based on the clinical presentation, leukocytosis, the patient’s and parents’ vaccination history, and the sister’s disease history, a diagnosis of pertussis was made during the consilium. During the course of treatment, inflammatory markers showed improvement, and coughing fits regressed as sedation was reduced. The patient was extubated. However, at discharge, the patient still required supplemental oxygen at home. The parents refused to confirm the whooping cough diagnosis by testing the sister’s blood for Ig specific antibodies, leaving the newborn’s diagnosis unverified. Summary. According to data from the Lithuanian Institute of Hygiene, two cases of pertussis are registered annually in children under the age of three (3). Taking care of childhood immunization is not just a personal decision – it is a responsibility that looks after the health and well-being of the whole community (4). Conclusions. As vaccination rates decline, pertussis incidence is becoming an increasingly significant public health issue, potentially leading to severe consequences for children (4). Effective vaccination, as well as awareness among parents and society, are key factors in reducing the prevalence of pertussis.

Introduction. Febrile infection-related epilepsy syndrome (FIRES) is a rare and severe form of epilepsy that primarily affects children after a febrile infection. Despite advances in understanding the clinical features of the syndrome and its potential mechanisms, FIRES remains a diagnostic and therapeutic challenge, often resulting in severe long-term neurological complications. Case description. A 6-year-old patient was admitted to the Paediatric Intensive Care Unit due to frequent and treatment-resistant epileptic seizures. The patient had no prior medical conditions, and his psychomotor development was normal before the onset of seizures. A week after a mild viral infection accompanied by fever, he began experiencing various types of seizures, including generalised tonic-clonic, generalised tonic, and focal motor seizures. The seizure frequency escalated to several dozen per hour. Initial standard therapies, including anti-epileptic drugs and immunomodulatory therapies such as intravenous immunoglobulin and corticosteroids, were unsuccessful in controlling the seizures. Although a ketogenic diet was introduced, it had to be discontinued due to complications, including hypertriglyceridemia and pancreatitis. The initiation of cannabidiol (CBD) therapy after 72 days showed significant improvements, reducing seizure frequency and intensity. CBD was administered alongside anti-epileptic drugs, resulting in sustained improvement. However, the patient experienced persistent cognitive deficits and structural brain abnormalities, including cerebral atrophy. Summary. This case illustrates the complexity of managing FIRES and highlights the importance of personalized treatment approaches. Cannabidiol showed potential as an adjunctive therapy, particularly in cases where conventional treatments proved ineffective. Conclusions. Managing FIRES requires a comprehensive and individualised treatment approach. Although the prognosis remains poor, emerging treatments such as cannabidiol provide a glimmer of hope for better seizure control.

Osteogenesis imperfecta (fragile bone disease) is a genetic disease characterized by bone fragility and risk of fracture. Osteogenesis imperfecta is usually caused by changes in type I collagen. It is a genetically and clinically heterogeneous disease with an incidence of approximately 1 in 10,000 to 1 in 20,000. [...].

Introduction. Osteogenesis imperfecta (fragile bone disease) is a genetic disease characterized by bone fragility and risk of fracture. Osteogenesis imperfecta is usually caused by changes in type I collagen. It is a genetically and clinically heterogeneous disease with an incidence of approximately 1 in 10,000 to 1 in 20,000. Case description. A 15-year-old teenager was examined, who was diagnosed with brittle bone disease - osteogenesis imperfecta. A one-year-old boy was delivered to the Children’s Orthopedics-Traumatology Department of LSMUL Kaunas Clinics. He did not move both hands, he felt pain. An X-ray showed a non-displaced oblique fracture of the humerus. The traumatologist - orthopedist performed fixation of the long bones of both hands with intramedullary elastic nails. He was born at 40 weeks of pregnancy and weighed 3kg 740g. The boy had crepitus in the area of the right clavicle, the area of the right thigh and both calves since birth. There were no fractures or other significant health problems in the family. Blood tests showed decreased calcium levels. Summary. During the treatment, drugs from the bisphosphonate group were prescribed. It was also suggested to continue calcium preparations, vitamin D. It was recommended to limit fast-absorbing carbohydrates (products and drinks with added sugar, flour products) to 1-2 per day, to drink enough fluids. Conclusions. Osteogenesis imperfecta can be diagnosed with X-rays, bone density tests, and genetic testing. The late form of osteogenesis imperfecta is more favorable, although it limits the quality of life. The goals of treatment for osteogenesis imperfecta are to increase bone strength, reduce fracture risk, reduce pain, increase mobility and functional independence, and prevent long-term complications.