Background: Mitochondrial disorders are heterogeneous clinical syndromes caused by defective activity in the mitochondrial respiratory chain, resulting in a faulty oxidative phosphorylation system. These inherited disorders are individually rare, and furthermore they are phenotypic variables. The genetically characterized mitochondrial disorders are rarely associated with epileptic encephalopathies. Case presentation: We present the clinical phenotype, biochemical analysis, and electrographic and neuro-radiological features of a 5-month-old girl with epileptic encephalopathy, microcephaly, severe psychomotor delay, hypertrophic cardiomyopathy, and abnormal MRI scan. Using whole-genome sequencing technique, compound heterozygous mutations of the VARS2 gene were revealed, with one previously unreported frameshift mutation. Conclusion: Our report extends the phenotypic spectrum of VARS2-related disorders with an initial presentation of epileptic encephalopathy and early death due to malignant arrhythmia.
Introduction Celiac disease (CD) is an autoimmune disease triggered by gluten in genetically predisposed individuals. Despite the increasing prevalence of CD, many patients remain undiagnosed. Standard serology tests are expensive and invasive, so several point-of-care tests (POC) for CD have been developed. We aimed to determine the prevalence of CD in first-grade pupils in Primorje-Gorski Kotar County, Croatia, using a POC test. Methods A Biocard celiac test that detects IgA antibodies to tissue transglutaminase in whole blood was used to screen for celiac disease in healthy first-grade children born in 2011 and 2012 who consumed gluten without restrictions. Results 1478 children were tested, and none of them were tested positive with a rapid test. In 10 children (0,6%), IgA deficiency has been suspected; only 4 of them agreed to be tested further for total IgA, anti-tTG, and anti-DGP antibodies. IgA deficiency was confirmed in 3 patients, and in all 4 children, CD has been excluded. Conclusion Our results have not confirmed the usefulness of the POC test in screening the general population of first-grade schoolchildren. Further research is needed to establish the true epidemiology of CD in Primorje-Gorski Kotar County and to confirm the value of the rapid test in comparison with standard antibody CD testing.
Sažetak. Cilj: Prikazati slučaj neuobičajenog kliničkog tijeka prirođenog laringealnog stridora i razmotriti indikacije za endoskopskim pregledom u takvim slučajevima. Prikaz slučaja: Terminsko eutrofično muško novorođenče je po porodu zbog akutnog skrotuma te respiratornih teš-koća u vidu tahipneje i hipoksemije primljeno u Kliniku za pedijatriju. Neposredno nakon kirurškog zahvata dijete je rutinski ekstubirano. No vrlo brzo nakon odvajanja od tubusa ponovno je naglo razvilo respiratorne teškoće obilježene stridorom i hipoksemijom. Dijete je ponovno intubirano i vraćeno na strojnu ventilaciju. U daljnjem tijeku se u više navrata pokušavao provesti postupak ekstubacije. Nije ga bilo moguće učiniti jer bi se nakon odvajanja od tubusa vrlo brzo vratili znakovi respiratornih teškoća pod kliničkom slikom akutnog laringotraheobronhitisa. S obzirom na probleme otežane ekstubacije i ovisnosti o tubusu te na perzistentne atipične simptome krupa i neučinkovitost farmakoterapije, dijete je u dobi od mjesec dana podvrgnuto endoskopskom pregledu dišnih putova. Vizualizirana je koncentrična subglotična stenoza membranskog tipa. U pripremama za liječenje endoskopskom laserskom ablacijom stridor je bivao sve manje izražen. Dva tjedna nakon prvog endoskopskog pregleda učinjen je kontrolni na kojem je vizualni nalaz sugerirao značajnu regresiju subglotičnog membranskog suženja. Odustalo se stoga od planirane intervencije laserom, a stridor se u dojenčeta spontano povukao. Zaključak: Iako je laringomalacija daleko najčešća etiološka podloga prirođenog stridora i ne predstavlja apsolutnu indikaciju za endoskopijom dišnog puta, on može biti izazvan nizom drugih rijetkih stanja, uključujući prirođenu subglotičnu stenozu. U prikazanom slučaju zabilježena je neuobičajena spontana regresija subglotične stenoze membranskog tipa.Ključne riječi: laringomalacija; novorođenče; stenoza larinksa; stridor Abstract. Aim: To report an unusual clinical course of an infant with congenital laryngeal stridor. Indications for endoscopic examination of airways in such cases have also been discussed. Case report: A full-term male newborn was admitted to the Department of Paediatrics because of the symptoms of acute scrotum as well as because of breathing difficulties and severe hypoxemia. Soon after surgery the child was extubated but breathing difficulties persisted. A loud inspiratory stridor together with rapid respiratory deterioration occurred. The infant was intubated and underwent mechanical ventilation again. In the following period several trials of extubation were repeatedly unsuccessful despite favourable weaning parameters. Just few hours after each trial of extubation symptoms of acute laryngotracheobronchitis were apparent. Because of extubation failure, tube dependency and persistent atypical symptoms of croup unresponsive to standard pharmacotherapy, endoscopic assessment was performed at the age of one month. Concentric central membranous subglottic stenosis was visualized. While preparing for the endoscopic laser ablation treatment, ...
total number of examinations performed was 1022. The most common indications for EGDS were: dyspepsia 32% (n =327), abdominal pain 21% (n= 211), and celiac disease 16% (n = 166). The most common endoscopic findings were : gastritis 50% (n =450), normal findings 35% (n = 325) and esophagitis 9% (n= 84). The most common PH findings were: normal 43% (n = 390), gastritis 23% (n=210), and duodenitis 15% (n =133). Of the total number of examinations, endoscopy was therapeutic in 10% (n= 98) of cases. The most common therapeutic indications were: foreign body ingestion 5% (n =51), PEG placement 3% (n= 35), and acid and alkali ingestion 1% (n=12). ConclusionThe results obtainted are consistent with those of other studies and may indicate areas for additional education of staff and a starting point for future research on the topic.
scite is a Brooklyn-based organization that helps researchers better discover and understand research articles through Smart Citations–citations that display the context of the citation and describe whether the article provides supporting or contrasting evidence. scite is used by students and researchers from around the world and is funded in part by the National Science Foundation and the National Institute on Drug Abuse of the National Institutes of Health.
hi@scite.ai
10624 S. Eastern Ave., Ste. A-614
Henderson, NV 89052, USA
Copyright © 2024 scite LLC. All rights reserved.
Made with 💙 for researchers
Part of the Research Solutions Family.