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To determine the prevalence of celiac disease in children and adolescents with nonsyndromic intellectual disability, we investigated serum levels of tissue transglutaminase antibody and total IgA from 232 children with nonsyndromic intellectual disability and in a healthy control group of 239 children. Study participants who were positive for tissue transglutaminase antibody underwent a duodenal biopsy. A total of 3 patients in the nonsyndromic intellectual disability group (5.45%) and 1 in the control group (0.41%) had positive serum tissue transglutaminase antibody (P > .05). Duodenal biopsy confirmed celiac disease in only 1 patient who had nonsyndromic intellectual disability. In this present study, children with nonsyndromic intellectual disability did not exhibit a higher celiac disease prevalence rate compared with healthy controls. Therefore, we suggest that screening test for celiac disease should not be necessary as a part of the management of mild and moderate nonsyndromic intellectual disability. However, cases of severe nonsyndromic intellectual disability could be examined for celiac disease. [ABSTRACT FROM AUTHOR]

Deoxyguanosine kinase (DGUOK) gene mutations have been identified in the hepatocerebral form of mitochondrial DNA depletion syndromes. We report here clinical and laboratory features of 3 infants with novel DGUOK gene mutations, c.130G>A (Glu44Lys), c.493G>A (Glu165Lys), and c.707+3_6delTAAG. [ABSTRACT FROM PUBLISHER]

A randomized, double-blinded, placebo-controlled trial was conducted of early administration of recombinant granulocyte colony-stimulating factor (rGCSF) to 40 non-neutropenic, preterm infants between 33 and 36 weeks of gestational age with the diagnosis of presumed sepsis. The treatment group (n = 20) received 5 μg/kg per day of intravenous rGCSF once daily for 3 d and the control group (n = 20) received the same volume of physiological serum. Immediately before the first dose and on the 4th day, plasma levels of GCSF and tumour necrosis factor-α (TNF-α), absolute neutrophil counts (ANC), immature neutrophil count (INC), immature/total neutrophil (I/T) ratios and platelet counts were determined. At study entry, the plasma GCSF and TNF-α levels were similar. On day 4, there was no significant change in GCSF levels in either groups, whereas there was a significant decrease in TNF-α levels in the treatment group. ANC and INC of the treatment group also increased significantly. The I/T ratio continued at the same level in the treatment group, but decreased significantly on days 4 and 7 day in the control group. The length of time on the neonatal intensive care unit (NICU) was significantly shorter in the treatment group. In conclusion, early administration of 3 daily doses of rGCSF (5 μg/kg per day) to non-neutropenic, preterm infants who had presumed sepsis increased circulating ANC and INC, decreased plasma TNF-α levels and shortened the length of time on the NICU. [ABSTRACT FROM AUTHOR]

Objectives: Cardiac transplant is the best treatment for patients with end-stage heart failure. Neurologic complications occur at a rate of 30% to 80% in patients undergoing cardiac transplant. Seizures occur at a rate of 2% to 20%. The main causative factors include immunosuppressant drug toxicity, infections, brain lesions, and metabolic disorders. Here, our aim was to determine seizure types and associated conditions in patients undergoing cardiac transplant and to report our treatment experience at our institution., Materials and Methods: We retrospectively evaluated the medical records of 109 patients who underwent cardiac transplant between 2004 and 2016. We recorded demographic data, immunosuppressive treatment, seizure type, cause, recurrence rate, and treatment., Results: Of 109 patients, 13 had seizures after cardiac transplant. Our study involved 69 adult and 40 pediatric patients. The pediatric patients had an age range of 1 to 17 years, with a mean age of 9.6 years (22 female and 18 male patients). Five pediatric patients had seizures (4 female and 1 male patient). The seizure causes included 2 postarrest hypoxic encephalopathies and 3 posterior reversible encephalopathies. Adult patients ranged from 18 to 63 years old, with a mean age of 42.3 years (54 male and 15 female patients). Eight patients in the adult patient group had seizures (5 female and 3 male patients). Seizure causes were ischemic cerebrovascular events in 2 patients, metabolic disorders in 2, posterior reversible encephalopathies in 3, and postarrest hypoxic brain in 1., Conclusions: Seizure is an important complication after cardiac transplant. At our institution, the most common cause of seizure was posterior reversible encephalopathy, with immunosuppressant drugs being responsible.

Calcium metabolism disturbances are common in childhood. In infancy, hypercalcemia generally occurs due to hyperparathyroidism, familial hypocalciuric hypercalcemia, subcutaneous fat necrosis, total parenteral nutrition administration, hyperthyroidism, and adrenal insufficiency. Granulomatous disorders such as tuberculosis and sarcoidosis are rarer cause of hypercalcemia. Hypercalcemia outcomes including nephrocalcinosis, brain, eye, artery calcifications and encephalopathic features are life-threatening. We report a seven-month-old girl with miliary tuberculosis who presented with severe hypercalcemia.

The bone involvement in the later stages of Hodgkin's disease is an expected phenomenon, but it is very rare in early stages of the disease. About 49 cases of Hodgkin's disease presenting with bone involvement have been reported in the literature. We reported a 14-year-old boy initially evaluated with pain localized at the left ilium. Although all the radiological examinations suggested an osseous anomaly, histopathologic evaluation of the pelvic lymphadenopathies provided definite diagnosis of the disease. We discuss the possible differential diseases and review the literature regarding the osseous presentation of Hodgkin's disease.

Exstrophic bladder and intramedullary teratomas are rare congenital anomalies. To the authors' knowledge, the coexistence of these 2 anomalies has not been reported previously. The authors report on a newborn with thoracal intramedullary teratoma and exstrophic bladder. The possible embryogenetic background also is discussed.