Nationwide Turkish Cohort Study of Hypophosphatemic Rickets.

Objective: Hypophosphatemic rickets (HR) is a rare renal phosphate-wasting disorder, which is usually X-linked and is commonly caused by PHEX mutations. The treatment and follow-up of HR is challenging due to imperfect treatment options.

Methods: Here we present nationwide initial and follow-up data on HR.

How does thiol/disulfide homeostasis change in children with type 1 diabetes mellitus?

Aims: An increase in reactive oxygen species leads to formation of covalent bonds between sulfur atoms, thus thiol/disulfide homeostasis shifts towards the disulfide direction and oxidative damage occurs. We aimed to determine thiol/disulfide homeostasis in children with T1DM.

Methods: Thiol/disulfide homeostasis was evaluated in 30 patients with T1DM and 30 age, gender matched healthy controls.

Genetic testing in children with autism spectrum disorders.

Objective: The aim of this study was to investigate karyotype abnormalities, MECP2 mutations, and Fragile X in a clinical population of children with Autism Spectrum Disorders (ASD) using The Clinical Report published by the American Academy of Pediatrics.

Methods: Ninety-six children with ASD were evaluated for genetic testing and factors associated with this testing.

Results: Abnormalities were found on karyotype in 9.

A rare type of secondary cancer in a child with acute lymphoblastic leukemia: malignant fibrous histiocytoma.

Secondary cancers which are related with treatment of childhood acute lymphoblastic leukemia (ALL) is a significant problem with longer term. For development of secondary cancer after treatment, the latency period varies between 5 and 10 years. In this case, a 13 year-old-boy diagnosed as high-risk ALL was treated with chemotherapy and prophylactic cranial radiotherapy at a dose of 1800 cGy.

The relationship between cerebrospinal fluid osteopontin level and central nervous system involvement in childhood acute leukemia.

The aim of this study was to evaluate the relationship between cerebrospinal fluid (CSF) osteopontin (OPN) levels and central nervous system (CNS) involvement in children with a diagnosis of acute leukemia. The study sample consisted of 62 patients who had been diagnosed with acute leukemia. The control group consisted of 16 patients that had presented and had no malignant disease, CNS infection or chronic disease.