Natural history of patients with infantile nephrolithiasis: what are the predictors of surgical intervention?

Background: We evaluated the risk factors for the requirement of surgical intervention in infants with nephrolithiasis.

Methods: The medical records of 122 (156 kidney units (KU)) infants were reviewed. The clinical features, stone characteristics, changes in stone status, and treatment protocols were noted.

Evaluation of co-existing diseases in children with familial Mediterranean fever.

Familial Mediterranean fever (FMF) is A common periodic fever syndrome. The causative gene of the FMF is named Mediterranean Fever gene (MEFV). Increased inflammation in FMF may play a role as a trigger for the development of some diseases.

Clinical and immunophenotypic characteristics of patients with chromosome 22q11.2 deletion syndrome: a single institution's experience.

Aim: The aim of this study was to identify the clinical and immunologic features of patients with 22q11.2 deletion syndrome who were followed up in our clinic. Thus, it is aimed to identify the syndrome early, choose the right treatment options according to humoral and cellular immunologic analysis, and enlighten how to follow up these kinds of patients with immunodeficiencies.

A Novel Mutation of in a Child with 22q11.2 Deletion Syndrome Associated with MCLMR.

Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation (MCLMR; OMIM 152950) is a rare autosomal dominantly inherited syndrome. Mutations in the kinesin family member 11 () gene have been associated with this condition. Here, we report a de novo novel heterozygous missense mutation in exon 12 of the gene [c.