Case 3: Fetal intracardiac tumour - A feature of a genetic disease? - Diagnosis: Tuberous sclerosis

WOS: 000238197800024PubMed: 16754565

ANTIPHOSPHOLIPID ANTIBODY (aPL) PRESENCE IN COVID-19 PATIENTS

Objective: In our study, we aimed to show whether there is a relationship between antiphospholipid antibody (aPL) positivity and complications of COVID-19

Evaluation of Neuroimaging and Electroencephalography Findings in Patients with Status Epilepticus [Status Epileptikus Tanisiyla Izlenen Hastalarin Norogoruntuleme ve EEG Bulgularinin Degerlendirilmesi]

Status epilepticus (SE) is one of the most important pediatric emergent conditions because of major cause of morbidity and mortality. SE should be diagnosed and treated emergently, because it is one of the diseases that may lead to serious sequalea. The aim of the study is to evaluate neuroimaging methods and electroencephalography (EEG) findings of patients with SE, who were under follow up at our hospital. 162 patients (age range, 0-18 years) with SE treated and followed at our hospital between December 2006 and May 2009 were enrolled in our study. Patients age, sex, MRI- CT imaging and EEG findings were recorded from patients files. Patients age and sex were similar. CT was available in 41 patients and MRI was available in 36 patients. CT results of 28 patients were normal, but some pathologies were found in 13 patients. MRI results of 14 patients were normal, but some alterations were detected in 22 patients. EEG was present in 97 patients. EEG results of 49 patients (%50.5) were normal. Consequently, there is no enough data regarding the necessity of the use of neuroimaging methods in case of previous etiology-confirmed SE. However, neuroimaging methods may be considered useful to determinate etiology of SE, response to treatment, and effects on long-term prognosis. Moreover, we can highlight that the early period EEG may be important in determining prognosis. [Med-Science 2015; 4(3.000): 2356-63

Majčina crijevna mikrobiota u trudnoćama iz kojih su rođena djeca s Downovim sindromom - probno ispitivanje

Down syndrome (DS) is one of the main genetic abnormalities of newborns. Therefore, prenatal diagnosis of this syndrome is of paramount importance to the family and the community. The microbiota system is important in early brain development. We tried to study and compare gut microbiota (GM) composition in pregnancies that resulted in DS neonates with pregnancies that resulted in healthy children. The study population consisted of 21 pregnant women having delivered DS newborns (group 1) and 22 pregnant women who had given birth to healthy newborns (group 2). The GM composition was determined and compared between the two groups. There were no significant age and gestational age differences between the two groups (p>0.005 both). Regarding GM analysis, microorganisms of the families Clostridiaceae and Pasteurellaceae were more abundant in the group of women having delivered DS neonates than the group of women having delivered healthy newborns (p<0.05). The results of our pilot study showed that the GM system might have a role in the pathophysiology of DS. The GM changes may be used in the prenatal diagnosis and prevention of this syndrome. Further studies are needed in this field.Downov sindrom (DS) je jedna od glavnih genetskih nenormalnosti kod novorođenčadi, stoga je prenatalna dijagnostika ovoga sindroma od velike važnosti za obitelj, kao i za društvo. Sustav mikrobiote ima važnu ulogu u ranom razvoju mozga. U ovom istraživanju ispitali smo i usporedili sastav crijevne mikrobiote (CM) u trudnoćama iz kojih su rođena djeca s DS i u trudnoćama iz kojih su rođena zdrava djeca. Istraživana populacija obuhvatila je 21 trudnicu koje su rodile djecu s DS (1. skupina) i 22 trudnice koje su rodile zdravu djecu (2. skupina). Sastav CM utvrđen je i uspoređen među dvjema skupinama. Nije bilo razlike u dobi i gestacijskoj dobi između skupina (p>0,005 oboje). Analiza CM je pokazala da su mikroorganizmi iz porodica Clostridiaceae i Pasteurellaceae zastupljenije u skupini žena koje su rodile djecu s DS u usporedbi sa skupinom žena koje su rodile zdravu djecu (p<0,05). Rezultati našeg probnog ispitivanja pokazuju da bi sustav CM mogao imati ulogu u patofiziologiji DS. Promjene u CM mogle bi se rabiti u prenatalnoj dijagnostici i prevenciji ovoga sindroma. Potrebna su daljnja istraživanja u ovom području

Identification of a new de novo mutation underlying regressive episodic ataxia type I

Episodic ataxia type 1 (EA1), a Shaker-like K+channelopathy, is a consequence of genetic anomalies in the KCNA1 gene that lead to dysfunctions in the voltage-gated K+channel Kv1. 1. Generally, KCNA1 mutations are inherited in an autosomal dominant manner. Here we report the clinical phenotype of an EA1 patient characterized by ataxia attacks that decrease in frequency with age, and eventually leading to therapy discontinuation. A new de novo mutation (c.932G&gt;A) that changed a highly conserved glycine residue into an aspartate (p. G311D) was identified by using targeted next-generation sequencing. The conserved glycine is located in the S4-S5 linker, a crucial domain controlling Kv1.1 channel gating. In silico analyses predicted the mutation deleterious. Heterologous expression of the mutant (Kv1.1-G311D) channels resulted in remarkably decreased amplitudes of measured current, confirming the identified variant is pathogenic. Collectively, these findings corroborate the notion that EA1 also results from de novo variants and point out that regardless of the mutation-induced deleterious loss of Kv1.1 channel function the ataxia phenotype may improve spontaneously