Coagulation Disturbances in Patients with Argininemia

BACKGROUND Argininemia is an autosomal recessive urea cycle disorder (UCD). Unlike other UCD, hyperammonemia is rarely seen. Patients usually present in childhood with neurological symptoms. Uncommon presentations like neonatal cholestasis or cirrhosis have been reported. Although transient elevations of liver transaminases and coagulopathy have been reported during hyperammonemia episodes, a permanent coagulopathy has never been reported. METHODS In this retrospective study, coagulation disturbances are examined in 6 argininemia patients. All of the patients were routinely followed up for hepatic involvement due to argininemia. Laboratory results, including liver transaminases, albumin, prothrombin time (PT), international normalized ratio (INR), activated partial thromboplastin time (aPTT), and clotting factor levels, were assessed in all of the patients. RESULTS All of the patients had a prolonged PT and an increased INR, while none of the patients had a prolonged aPTT. Five patients had slightly elevated liver transaminases. A liver biopsy was performed in 1 patient but neither cirrhosis nor cholestasis was documented. Five of the 6 patients had low factor VII and factor IX levels, while other clotting factors were normal. CONCLUSIONS Argininemia patients should be investigated for coagulation disorders even if there is no apparent liver dysfunction or major bleeding symptoms

Differences in the gut microbiota of healthy children and those with type 1 diabetes

Background Intestinal barriers, intestinal flora, and mucosal immunity are the main factors responsible for the development of various allergic and autoimmune diseases. The aim of this study was to investigate the relationship between the intestinal flora of children and the presence of type 1 diabetes, and to determine if gut microbiota could partly explain the etiology of the disease. Methods Fecal flora analysis was done using quantitative cultures on selective and non-selective media with different thermal and atmospheric conditions for bacterial and fungal growth. The study group consisted of 35 patients (16 female, 19 male; mean age, 10.73 +/- 4.16 years), who had been followed by the University of Istanbul, Cerrahpasa Medical Faculty, Department of Pediatrics, and were newly diagnosed with type 1 diabetes. The control group consisted of 35 healthy subjects (15 female, 20 male; mean age, 9.96 +/- 4.09 years), who were randomly selected and had similar demographics. Results Bifidobacterium colonization was lower in patients with type 1 diabetes compared to the control group, whereas Candida albicans and Enterobacteriaceae other than Echerichia coli colonization was increased. Conclusion A decrease in beneficial anaerobic bacteria levels and a concomitant increase in Enterobacteriaceae other than E.coli and C.albicans colonization may lead to a disturbance in the ecological balance of intestinal flora, which could be a triggering factor in type 1 diabetes etiology

Screening Inherited Metabolic Disorders in Patients with Familial Mediterranean Fever

Aim: Familial Mediterranean fever (FMF) is an autosomal recessive auto-inflammatory disease, presenting with recurrent episodes of fever and polyserositis. Mitochondrial fatty acid oxidation disorders and porphyrias can present with periodic abdominal and muscle pain. The aim of this study was to determine the inherited metabolic disorders in differential diagnoses of Turkish pediatric FMF patients

Screening of Free Carnitine and Acylcarnitine Status in Children With Familial Mediterranean Fever

Objectives: This study aims to demonstrate the patterns of free carnitine (FC) and acylcarnitine (AC) esters in familial Mediterranean fever (FMF) patients

Multimodal imaging including optical coherence tomography angiography in patients with type B Niemann-Pick disease

Purpose To evaluate accumulation patterns of deposits in retinal layers of type B Niemann-Pick patients by multimodal imaging. Methods Seven patients with type B Niemann-Pick disease were included in this study. All participants underwent a complete ophthalmologic evaluation, high-resolution digital colour imaging, spectral-domain optical coherence tomography, blue light fundus autofluorescence and optical coherence tomography angiography (OCTA). Results We demonstrated different accumulation patterns in the retinal ganglion cell layer, the retinal nerve fibre layer and the subfoveolar region by multimodal imaging. Local retinal capillary nonflow areas in the superficial plexus, increased vascular tortuosity and deformed foveal avascular areas were shown in OCTA scans. Conclusion Multimodal imaging including OCTA is a useful technique for the identification of different types of accumulation patterns, diagnosis and follow-up of type B Niemann-Pick patients

Evaluation of the effect of chenodeoxycholic acid treatment skeletal system findings in patients with cerebrotendinous xanthomatosis

Aim: The primary purpose of the present study is to evaluate the effect of chenodeoxycholic acid treatment on skeletal system findings in patients with cerebrotendinous xanthomatosis