Saving Lives: The Principle of Distinction and the Realities of Modern War

WOS: 000332942700005PubMed ID: 24778561In this study, we assessed the feasibility of fetal RhD genotyping by analysis of cell-free fetal DNA(cffDNA) extracted from plasma samples of Rhesus (Rh) D-negative pregnant women by using real-time polymerase chain reaction (PCR). Fetal genotyping was performed on 30 RhD-negative women between 9 and 39 weeks of gestation who were referred to us for invasive testing [amniocentesis/chorionic villi sampling (CVS)]. The fetal RHD genotype was determined based on real-time PCR method. Exons 7 and 10 of the RHD and SRY genes were targeted. Among the pregnant women, 12 were carrying male and 17 were carrying female fetuses. Out of 29 pregnant women, 21 had RhD-positive and nine had RhD-negative fetuses. One sample) case 12, whose blood group was found to be AB Rh [+] (was excluded due to controversial results from repeated serological analyses. All prenatal results were in concordance with postnatal RhD status and fetal sex without false-positive or -negative results. Performing real-time PCR on cffDNA showed accurate, efficient and reliable results, allowing rapid and high throughput non invasive determination of fetal sex and RhD status in clinical samples

Clinical, Neuroimaging, and Genetic Features of the Patients with L-2-Hydroxyglutaric Aciduria

Aim:L-2-hydroxyglutaric aciduria (L2HGA) is a rare autosomal recessive encephalopathy caused by mutations in the L-2-hydroxyglutarate dehydrogenase gene.Materials and Methods:Here we discuss the clinical and molecular characteristics in patients with L2HGA.Results:There were eight patients with L2HGA. Their median age was 16 (9.5-37) years. Five of them were female and three of them were male. The main symptoms of the patients were psychomotor retardation (8/8), cerebellar ataxia (5/8), extrapyramidal symptoms (7/8) and seizures (4/8). All patients had behavioral problems. Elevated urinary L-2-hydroxy (L-2-OH) glutaric acid was detected and the median level of urine L-2-OH glutaric acid at diagnosis was 146 (60-1460 nmol/mol creat). Characteristic magnetic resonance imaging findings including subcortical cerebral white matter abnormalities with T2 hyperintensities of the dentate nucleus, globus pallidus and putamen were detected. Two patients had homozygous R335X, two patients had homozygous R282Q, two patients had homozygous R302L and one patient had compound heterozygous P302L/A64T mutation in L-2-hydroxyglutarate dehydrogenase (L2HGDH) gene.Conclusion:Because of the slow progression of the disease, the diagnosis of the patients is usually belated. L2HGA must be considered in the differential diagnosis based on clinical findings and specific findings in cranial magnetic resonance imaging. In our study, one of our patients has a novel mutation

Glutaric Aciduria Type I Diagnosis Case with Normal Glutaryl Carnitine and Urine Organic Acid Analysis

Glutaric aciduria Type I (GA-I) is a rare inherited metabolic disease, deficiency of glutaryl-CoA dehydrogenase results in accumulation of the putatively neurotoxic metabolites glutaric and 3-hydroxyglutaric acid (GA, 3-OH-GA) in body tissues, particularly within the brain. Here we presented a 3-year-old girl with hypotonia and dystonia diagnosed with GA-I although the repeated analysis of the carnitine profile and organic acid analyses were normal. The patient has motor, mental retardation, hypotonia. Her weight standard deviation score (SDS) was -1.86 SDS, height SDS was -0.55 SDS, head circumference SDS was -1.01. The physical examination was normal except severe hypotonia. Spot blood carnitine profile, blood amino acid, urine organic acid, lactic acid and pyruvic acid were normal in repeated analysis. Dystonia and spastic tetraparesis developed on her follow-up. Cranial magnetic resonance imaging revealed bilateral cortical atrophy and bilateral striatal and caudate nucleus T2 flair hyperintensities. In GCDH gene analysis p.Y123C (c.368A>G)/p.L340F (c.368A>G) mutation was found. There was no history of encephalopathy. The patient treated with levodopa and trihexyphenidyl and lysine-restricted diet. In the presence of bilateral striatal involvement and cortical atrophy and dystonia, GA-I should be kept in mind. Blood carnitine profile and urine organic acid analyses may not be consistent. It is important to evaluate the cases for genetic investigation

Molecular genetic studies in hemoglobinopathies in the Aegean Region of Turkey

European Biotechnology Congress -- MAY 15-18, 2014 -- Lecce, ITALYWOS: 00035003200003

Çocukluk yaş grubunda 10 kist hidatik olgusunun değerlendirilmesi

Ten children (two females and 8 males) with hydatid cyst disease were treated at the Ege University P;eacute;diatrie Clinic in the 1990-1995 period. the ages of children ranged from three to 14 years. All of the patients had lung involvement. the most frequent symptoms in the patients were cough, chest pain, haemopthysis, fever, dispnea and vomitting of cyst fluid. ELISA, IHAT, IFAT which are s;eacute;rologie tests for diagnosis were found positive in six out of 10 patients. These tests gave false negative results in 33 % of cases. It is concluded that radiological methods are necessary for definite diagnosis. All of the patients underwent surgical treatment. Three of them were treated with albendazole in addition to surgery with successful results.1990-1995 yılları arasında Ege Üniversitesi Pediyatri Kliniği'nde akciğer kist hidatiği nedeni ile yaşları üç ile 14 yaş arasında değişen 10 hasta (iki kız ve sekiz erkek) tedavi edildi. Bu hastaların tümünde akciğer tutulumu vardı. Hastalarda semptomlar en sık olarak öksürük, göğüs ağrısı, hemoptizi, ateş, dispne ve kist içeriğinin kusulması idi. Tanıda kullanılan serolojik testler olan ELI S A, l H AT ve I FAT gibi testlerden en az biri 10 olgunun altısında pozitif bulundu. Radyografik incelemenin en kesin tanı koydurucu yöntem olduğu gözlendi. Hastların tümüne cerrahi tedavi uygulandı. Üç tanesine cerrahiye ek olarak yapı lan albendazol tedavisi de başarılı oldu

The first report of fibular agenesis, tibial campomelia, and oligosyndactyly syndrome with hydrocephaly

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