THE RELATIONSHIP BETWEEN CONGENITAL HEART DEFECTS AND e-NOS GENE IN DOWN SYNDROME.

The aim of the study was to compare the effects of three eNOS gene polymorphisms associated with congenital heart defects, between Down syndrome patients with and without cardiac anomalies. Transthoracic echocardiographic examinations and eNOS single-nucleotide polymorphisms were investigated on seventy-five patients, prospectively. The frequencies of mutant alleles in the eNOS promoter (the -786T/C polymorphism) and exon 7 mutant alleles (the 894G--->T polymorphism) were significantly higher in Down syndrome patients with and without cardiac anomalies. The frequency of the intron GIOT polymorphism did not significantly differ between patients with and without cardiac anomalies. We found a significant relationship between eNOS gene polymorphisms and the congenital heart defects in patients with Down syndrome. Screening for the presence or absence of eNOS polymorphisms may be useful to obtain preliminary data on the risk of congenital heart defects in patients with Down syndrome.

Evaluation of children with neurobrucellosis.

BACKGROUND: Brucellosis is an endemic disease in many areas throughout the world. Central nervous system involvement is a serious complication of brucellosis with a ratio of 4-11% of all patients. AIM: to describe our experience in diagnosis, treatment, and outcome of 25 pediatric patients with neurobrucellosis. PATIENTS AND METHODS: This study included a review of medical records of patients who were diagnosed with neurobrucellosis between March 2001 and March 2009. Patients who had both clinical findings consistent with neurobrucellosis and positive microbiologic/serologic examinations of CSF with abnormal CSF findings were enrolled in the study. RESULTS: The study included 25 patients between 1 and 15 years of age (mean 8.8 years), while 15 were males and 10 were females. Most of the patients (52 %) were in the age group of 5-9 years with male predominance. The distribution of cases showed density in June and February. The most commonly presented complaints were headache, fever and sweating while the most commonly observed findings were fever and meningeal irritation signs. All patients had positive cerebrospinal fluid agglutination test for brucellosis. Four different regimens were used based on ceftriaxone, doxycycline, cotrimoxasole, streptomycin, and rifampicin. One patient died, three patients were discharged with sequel, and the remaining patients (84 %) were discharged with full recovery. CONCLUSION: Clinicians, especially those providing health services in endemic areas like Turkey, should keep in mind that neurobrucellosis can be involved in patients with unexplained symptoms like memory impairment or in patients diagnosed with meningitis (Tab. 5, Fig, 2, Ref. 39).

Intracranial hemorrhage due to vitamin K deficiency in infants: a clinical study.

The hospital records of 30 infants with a diagnosis of intracranial hemorrhage (ICH) due to late onset of vitamin K deficiency, seen during a 5-year period (2001-2005) were retrospectively evaluated. Signs and symptoms of the patients were convulsions (80%), poor sucking (50%), irritability (40%), vomiting (47%), acute diarrhea (33%), and fever (40%). On physical examination there were bulging or full fontanel in 19 patients (63%), collapsed fontanel in one (3%), diminished or absent neonatal reflexes in 11 (37%), pallor in 14 (47%), and cyanosis in one (3%) patient. Gastrointestinal disorder, skin hemorrhagic findings, and epistaxis each were noted in two (7%) patients. All the infants had prolonged prothrombin time (PT) and seven had prolonged activated partial thromboplastin time (APTT), both of which were corrected by the administration of vitamin K. All the infants had ICH, with the most common being intraparenchymal hemorrhage, followed by multiple type ICH (27%). Neurosurgical intervention was performed in five patients (17%). The overall case fatality rate was 33%. In conclusion, we would like to stress that ICH due to vitamin K deficiency in infants is still an important health problem in Turkey resulting in high mortality rate.

Hemoglobins, XLI. The embryonic hemoglobins of mammal. A new hemoglobin, hemoglobin Heide II (Hb HeII: alpha 2 epsilon 2), and demonstration of the hemoglobin structure of gower I (zeta 3 epsilon 2) in the pig embryo.

A new hemoglobin is described. The hemoglobins of pig embryonic erythrocytes are separated by DEAE-Cephacel chromatography. In addition to a small amount of adult hemoglobin, four embryonic hemoglobins are obtained. Each of the hemoglobin components is analysed by globin and hemoglobin electrophoresis on polyacrylamide gels. Two of these hemoglobins are previously described as Hb Gower II (alpha 2 epsilon 2) and Heide I (zeta 2 epsilon 2). A tetrameric hemoglobin consisting of alpha and epsilon chains has been detected. Therefore, this new hemoglobin is named, in analogy, as Hb Heide II (alpha 2 epsilon 2). Furthermore, the other hemoglobin tetramer has been unequivocally identified as zeta 2 epsilon 2. This structure corresponds to Gower I which is only suggested in the human embryo.