A novel KIF11 mutation in a Turkish patient with microcephaly, lymphedema, and chorioretinal dysplasia from a consanguineous family.

Microcephaly–lymphedema–chorioretinal dysplasia (MLCRD) syndrome is a rare syndrome that was first described in 1992. Characteristic craniofacial features include severe microcephaly, upslanting palpebral fissures, prominent ears, a broad nose, and a long philtrum with a pointed chin. Recently, mutations in KIF11 have been demonstrated to cause dominantly inherited MLCRD syndrome. Herein, we present a patient with MLCRD syndrome whose parents were first cousins. The parents are unaffected, and thus a recessive mode of inheritance for the disorder was considered likely. However, the propositus carries a novel, de novo nonsense mutationinexon2 of KIF11. The patient also had midline cleft tongue which has not previously been described in this syndrome

Letters - Development of hydrocephalus in a patient with Joubert syndrome

Non

PROTEIN-C AND ANTITHROMBIN-III IN CHILDREN WITH ACUTE-LEUKEMIA

In this study Protein C (PC) and antithrombin III (AT III) levels in childhood acute leukemia were investigated. The mean PC activity levels in 19 newly diagnosed cases of acute leukemia were significantly lower as compared with the normal controls (p < 0.05). A significant increase was found (p < 0.01) in the patients in remission. Prior to treatment 78.8 percent of patients had decreased PC activity levels, but all patients had normal PC activity during remission

Serum Fructosamine and Lipid Profile in Children with Malignant Diseases

PubMedID: 2284931Serum levels of total cholesterol (TC), triglycerides (TG), high density lipoprotein cholesterol (HDL-C), low density lipoprotein cholesterol (LDL-C) and fructosamine (FA) were determined in thirty–three children with malignant diseases and twenty healthy controls aged 1–14 years. Of them, FA was the parameter measured in children with malignancy for the first time. Mean serum TC, HDL-C, LDL-C and FA showed statistically significant decreases in malignancy compared to healthy children, whereas a statistically significant increase was observed for TG concentrations in serum. From these data, we conclude that significant relations between serum lipids and lipoproteins and the state of malignancy exist in the children studied, and it should be remembered that serum FA concentrations are affected by abnormal serum protein turnover when one deals with any type of neoplastic disease. Copyright © 1990, Wiley Blackwell. All rights reserve

IgA and/or IgG subclass deficiency in children with recurrent respiratory infections and its relationship with chronic pulmonary damage

Most patients with IgA and/or IgG subclass deficiency are asymptomatic but some may suffer from frequent mainly respiratory infections. The aim of our study was to determine the frequency of IgA and/or IgG subclass deficiencies and the rate of chronic pulmonary damage secondary to recurrent pulmonary infections in these children. Serum IgA and IgG subclass levels were measured in 225 children aged 6 months to 6 years with recurrent sinopulmonary infections (44 with recurrent upper respiratory tract infections, 100 with recurrent pulmonary infections and 81 with recurrent bronchiolitis). In order to determine chronic pulmonary damage due to recurrent infections in patients with recurrent pulmonary infections CT scans of thorax were also obtained. The overall frequency of antibody defects was found to be 19.1%. IgA deficiency was observed in 9.3%, IgG subclass deficiency in 8.4% and IgA + IgG subclass deficiency in 1.4%. The prevalance of IgA and/or IgG subclass deficiency was 25% in patients with recurrent upper respiratory tract infections, 22% in patients with recurrent pulmonary infections and 12.3% in patients with recurrent bronchiolitis (p>0.05). Chronic pulmonary damage in lungs was determined radiologically in 17 of 100 cases with recurrent pulmonary infection. In IgG subclass deficiencies sequel changes, although not statistically significant, were observed five times more frequently than that of IgA deficiencies. CT scans revealed pulmonary sequels in 5 of the 22 (22.7%) patients with recurrent pulmonary infections and immunodeficiency (bronchiectasis in 2 patients with IgG3 deficiency, fibrotic changes in one with IgA deficiency and in one with IgG3 deficiency, bronchiolitis obliterans in one with IgG2 +IgG3 deficiency). On the other hand, pulmonary sequels were observed in 12 patients (15.4%) with normal immunoglobulin levels. Eight of them were bronchiolitis obliterans, 2 of them were atelectasia and 1 of them was bronchiectasia. We therefore suggest that determination of antibody levels and evaluation of pulmonary alterations is crucial in patients with recurrent sinopulmonary infections since the deficiency of antibodies is associated with a greater pulmonary damage. © 2005 Esmon Publicidad

Serum fructosamine and lipid profile in type I diabetic children in Turkey.

PubMedID: 2075022Serum levels of total cholesterol (TC), triglycerides (TG), lipoprotein cholesterol fractions (HDL-C and LDL-C) and fructosamine (FA) were determined in twenty-three children with Type I diabetes and twenty healthy children aged 4-14 years. Mean serum TC and HDL-C did not differ significantly between diabetic and nondiabetic children. Mean serum TG and FA showed a statistically significant increase in the diabetic group compared to healthy children. It is interesting to note that extremely high FA values had never been reported in the literature before were obtained for the Turkish diabetic children. Although we have observed relatively higher values for LDL-C/HLD-C ratio in diabetics, the difference between two groups was not statistically significant