Child ; Evidence-Based Medicine ; Humans ; Kidney Diseases ; therapy

Clinical Medicine ; Humans ; Infant ; Prospective Studies ; Triazines ; adverse effects ; Urolithiasis ; chemically induced

Child ; China ; Humans ; Pediatrics ; Quality Indicators, Health Care ; Research

Cardiovascular Diseases ; Humans ; Mast Cells

Heart ; growth & development ; Humans ; MicroRNAs

Birth Weight ; Fetal Growth Retardation ; genetics ; Humans ; Molecular Biology

Child ; Humans ; Male ; Melanoma ; Melanosis ; Meningeal Neoplasms ; Neurocutaneous Syndromes

OBJECTIVETo investigate the clinical manifestations and EEG characteristics of Angelman syndrome in children, and to strengthen the recognition of this disease.

METHODFourteen children with Angelman syndrome received video EEG monitoring, head MRI/CT and gene test, 11 patients received the metabolic investigations (e.g., lactic acid, ammonia, GC/MS and MS/MS). Eight patients received Gesell test. The patients were followed up for 1-3 years.

RESULTOf the 14 cases, 4 were male and 10 female, their age was from 8 months to 3 years and 7 months. The clinical characteristics included prominent lower jaw and wide mouth, fair skin and yellow hair, light-colored iris, paroxysmal laughter, astasia and language backward. Twelve patients had epileptic seizures; 10 patients displayed non-convulsive status epilepticus (NCSE), 9 patients displayed myoclonic, atypical absence, and non-convulsive seizure simultaneously; myoclonic, generalized tonic-clonic seizure and complex partial seizure in 1 each; 4 patients had fever in early seizures. The EEG showed paroxysmal middle-high amplitude 2-3 Hz spike and spinous slow-wave in 8 patients. Four patients showed paroxysmal frequently middle-high amplitude 2-3 Hz slow waves mixed with sharps. The other 2 patients showed a normal EEG. All the patients were diagnosed with genetics testing. The results included maternal deletion of chromosome 15q11-13 in 12, paternal uniparental disomy in 1 and imprinting defects in 1.

CONCLUSIONThere are characteristic clinical manifestation and craniofacial features in Angelman syndrome patients. Some patients have specific EEG patterns. Abnormal region of chromosome 15q11-13 is the basis of diagnosis.

Angelman Syndrome ; diagnosis ; genetics ; physiopathology ; Child, Preschool ; Electroencephalography ; Female ; Humans ; Infant ; Male

OBJECTIVETo study the etiology and clinicopathological features of neonatal spontaneous gastric perforation.

METHODSThe clinical data of 15 cases with neonatal gastric perforation seen from 2001 to 2009 were retrospectively analyzed. Immunohistochemical staining was adopted for all the cases.

RESULTSThe typical clinical manifestations of this disease were vomiting, abdominal distention and respiratory distress. Abdominal orthostatic X-ray showed free gas under diaphragm and seroperitoneum. In most of the cases the stomach perforation occurred at the greater curvature. Eight of the cases died in this group, the mortality was 53.33%. Six of the deaths occurred within 1 day after birth with symptoms. There were thinning and defect of stomach wall muscle and interstitial cells of Cajal (ICC) reduction as demonstrated by microscope.

CONCLUSIONSSpontaneous neonatal gastric perforation is associated with abnormal gastric wall structure and reduction of ICC. Prognosis is closely related to the time of onset and the timely surgical operation.

Female ; Humans ; Infant, Newborn ; Male ; Retrospective Studies ; Stomach Rupture ; etiology ; pathology

OBJECTIVETo study the clinical features of neonatal diabetes mellitus (NDM).

METHODThirteen cases with NDM were seen in our department between Jul. 2004 and Sept. 2009. Their clinical features were reviewed retrospectively.

RESULTSThe average birth weight of the 13 cases was 2.30 kg. The median age at diagnosis was 2 months. The mean blood glucose at diagnosis was 22.2 mmol/L. Symptoms in 9 of 13 cases were exacerbated by infection and only 5 had typical symptoms of diabetes mellitus including polydipsia, polyuria, polyphagia and body weight loss. The common clinical findings included athrepsia, diuresis, and moderate dehydration. Ketoacidosis attacked 3 cases and 3 children had hypertriglyceridemia, meanwhile, 2 children had complications of blood clotting dysfunction and congenital cardiopathy, respectively. Autoantibody to insulin (IAA) was tested in 11 cases, all but one case was negative. Glycosylated hemoglobin was increased in 6 cases. Insulin treatment was started in all the 13 cases. The initial dose was 0.56-1.00 U/(kg × d), and the maximal dose was 1.35 U/(kg × d) depending on the variety of blood glucose. Blood glucose decreased significantly within 24 hours. Unfortunately, 1 case developed progressive blood glucose decline and recurrent hypoglycemia. Symptoms of the 3 cases who developed DKA were relieved 48 hours later, and their blood glucose was well under control. Among the 8 cases followed up, 4 had TNDM and 2 had PNDM. Unfortunately, 1 case died at the age of 3 months because insulin injection was stopped by the parents.

CONCLUSIONEarly diagnosis and prompt management may lead to favorable prognosis. Blood glucose monitoring is a valuable method to avoid misdiagnosis and NDM should be differentiated from stress hyperglycemia, iatrogenic, or other causes of hyperglycemia.

Blood Glucose ; analysis ; Diabetes Mellitus ; classification ; drug therapy ; Female ; Humans ; Hyperglycemia ; Infant ; Infant, Newborn ; Male ; Retrospective Studies