Whole-exome sequencing-based discovery of STIM1 deficiency in a child with fatal classic Kaposi sarcoma

Whole-exome sequencing reveals a homozygous splice-site mutation in the gene encoding STIM1 in a child with classic Kaposi sarcoma

Molecular Diagnosis Experience in Familial Mediterranean Fever: The Most Frequent Mutations in the MEFV Gene

Aim: Familial Mediterranean Fever (FMF) is the most frequent and historically the oldest autosomal recessive autoinflammatory disorder. No pathogen or auto-antibody has been shown to be associated with FMF. The disorder manifests with bouts of fever and abdominal pain, which are called "attacks". In the present study, we aimed to find the most frequent mutations in the MEFV gene in the Turkish population

Legislative Documents

Also, variously referred to as: House bills; House documents; House legislative documents; legislative documents; General Court documents

Description of Pediatric Tuberculosis Evaluated in a Referral Center in Istanbul Turkey

Purpose: Diagnosis of tuberculosis (TB) in children is more challenging than in adults. This study aimed to describe demographical, clinical and laboratory findings of children diagnosed with tuberculosis in Turkey, including the issues of contact tracing, culture positivity and forms of the disease. Materials and Methods: Clinical and laboratory data of 51 children with a mean age of 8.0 +/- 4.6 years who were diagnosed with TB were retrospectively reviewed. Main diagnostic tools included tuberculin skin test, chest X-ray, sputum/gastric aspirate culture with sensitivity testing, and direct microscopy for acid-fast bacilli on available samples. Clinical characteristics and outcomes of the patients were examined. Results: Thirty-six (70.6%) children were diagnosed with intra-thoracic and 15 (29.4%) with extra-thoracic tuberculosis. Twenty-eight of the patients had a positive Bacillus Calmette-Guerin vaccine scar (28/51, 54.9%) and 23/51 (45.1%) had a positive tuberculin skin test. An adult TB contact was identified in 27 (52.9%) of the cases. On direct microscopy, acid-fast bacilli were found in nine (17.6%) patients and positive culture for Mycobacterium tuberculosis was found in 19 (37.3%). Drug resistance to isoniazid was detected in four (7.8%). One patient with nephrotic syndrome and miliary tuberculosis died during follow-up. All other patients responded well to the treatment. Conclusion: Focusing on active contact tracing among all household contacts of tuberculous cases may be helpful in early identification and controlling childhood disease, even in regions with low disease prevalence. Adopting a suspicious and proactive approach in this particular age group is warranted

High Sensitivity C- Reactive Protein In Spontaneous Bacterial Peritonitis with Nonneutrocytic Ascites

Background/Aims: Diagnosis of spontaneous bacterial peritonitis in cirrhotic ascites is based on a polymorphonuclear leukocyte count of ascitic fluid equal or greater than 250/mm(3) in the presence of clinical signs. There is a small number of patients with positive ascitic fluid culture whose polymorphonuclear leukocyte count is less than 250/mm(3). In this study, we assessed the diagnostic value of serum high sensitivity C-reactive protein in spontaneous bacterial peritonitis with nonneutrocytic ascites

VANCOMYCIN-RESISTANT ENTEROCOCCUS FAECIUM INFECTIONS ON PEDIATRIC WARDS

Nosocomial infections with vancomycin-resistant enterococci (VRE) have been reported with increasing frequency in recent years, and are associated with an increase in mortality. Isolates of VRE were first detected in our hospital between September 2006 and January 2007. In this study, we analyzed the phenotypic and genotypic characteristics underlying that resistance and clonal relationships amongst VRE isolated from six patients at pediatric wards. All isolates were identified as Enterococcus faecium and showed resistance to both vancomycin and teicoplanin by disk diffusion and E-test methods. The resistance patterns fbr other anti-microbials were similar, indicating that the isolates might belong to the same clone. The genes responsible for resistance were identified in the isolates by multiplex polymerase chain reaction (PCR). Four isolates from patients on the same pediatric ward showed the same random amplification of polymorphic DNA (RAPD) pattern, suggesting clonal dissemination of a single strain

Could the ENPP1 p.D85H Mutation be Associated with Hypophosphatemic Rickets?

Objective: A 35-year-old Turkish male patient was referred to us with a year-long history of joint paint and congenital hearing loss. Family history revealed more family members with hearing loss without paraneoplastic syndrome. These findings led us to investigate the genetic alterations associated with familial hypophosphatemia, which revealed an ENPP1 mutation

Classic Kaposi Sarcoma in 3 Unrelated Turkish Children Born to Consanguineous Kindreds.

International audienceInfection by human herpesvirus 8 (HHV-8) in childhood is common in the Mediterranean basin; however, classic Kaposi sarcoma (KS) is exceedingly rare in children not infected with HIV and not receiving immunosuppression, with only 30 cases having been reported since 1960. We recently reported 2 children with autosomal and X-linked recessive primary immunodeficiencies underlying KS in a context of multiple clinical manifestations. These reports suggested that classic KS in otherwise healthy children might also result from inborn errors of immunity more specific to HHV-8. In this article, we describe 3 unrelated Turkish children with classic KS born to first-cousin parents. The first patient, a girl, developed KS at 2 years of age with disseminated cutaneous and mucosal lesions. The clinical course progressed rapidly, and the patient died within 3 months despite treatment with vincristine. The other 2 children developed a milder form of KS at the age of 9 years, with multiple cutaneous lesions. A boy treated with interferon alpha therapy for 12 months is now in full remission at the age of 14, 2 years after treatment. The second girl is currently stabilized with etoposide, which was begun 4 months ago. None of the 3 children had any relevant familial history or other clinical features. The occurrence of classic KS in 3 unrelated Turkish children, each born to consanguineous parents, strongly suggests that autosomal recessive predisposition may drive the rare occurrence of HHV-8-associated classic KS in children

Accounting For Genetic Heterogeneity In Homozygosity Mapping: Application To Mendelian Susceptibility To Mycobacterial Disease

Introduction Genome-wide homozygosity mapping is a powerful method for locating rare recessive Mendelian mutations. However, statistical power decreases dramatically in the presence of genetic heterogeneity. Methods The authors applied an empirical approach to test for linkage accounting for genetic heterogeneity by calculating the sum of positive per-family multipoint LOD scores (S) across all positions, and obtaining corresponding empirical p values (EmpP) through permutations. Results The statistical power of the approach was found to be consistently higher than the classical heterogeneity LOD by simulations. Among 21 first-cousin matings with a single affected child, for five families linked to a locus of interest and 16 families to other loci, S/EmpP achieved a power of 40% versus 28% for heterogeneity LOD at an alpha level of 0.001. The mean size of peak linkage regions was markedly higher for true loci than false positive regions. The S/EmpP approach was applied to a sample of 17 consanguineous families with Mendelian susceptibility to mycobacterial disease, leading to the identification of two mutations in IL12RB1 and TYK2 from the largest of six linkage regions at p<10(-3). Conclusions The S/EmpP approach is a flexible and powerful approach that can be applied to linkage analysis of families with suspected Mendelian disorders.Wo