Scimitar syndrome case report

Scimitar syndrome is a relatively uncommon constellation of cardio-pulmonary anomalies, its typical feature being partial anomalous pulmonary venous connection. It can present in the neonatal period as well as later in life. We present the case of a girl diagnosed in the newborn period, along with a brief review of literature

Encephalo-Cranio-cutaneous lipomatosis [ECCL] with cardiac affection case report

Neurocutaneous syndromes are numbers of diseases characterized by collection of neurological and cutaneous manifestations. ECCL is a rare, congenital, neurocutaneous disorder characterized by associated opthalmological affection, first described in 1970 by Haberland and Perou. We reported 4.5 years male child demonstrated the main features of ECCL; cutaneous and neurological manifestations with opthalmological features in the form of conjunctival and corneal dermoids. Some cardiac anomalies were also observed in our patient which were not reported before

Serum inhibin B level in adolescent female IDDM

Patient with insulin dependant diabetes mellitus [IDDM] are liable to changes in the control of release of prolactin, lutenizing hormone [LH], and follicle stimulating hormone [FSH]. These changes may be due to altered hypothalamus-pituitary regulating mechanism. Inhibin is a peptide member of transforming growth factor family [TGF beta]. It is secreted by granulose and theca cells of the ovary. Its secretion from granulose cells is stimulated by FSH. The aim of the present work is to spotlight the exocrine and endocrine function in female adolescent with IDDM.20 adolescent female patients with IDDM [their ages ranging from I Ito 16 years] were subjected to history taking, clinical evaluation, serum estradio and FSH, LH and inhibin B level. Our patients showed no significant difference as regards serum estradiol, FSH, LH and serum inhibin B level when compared with the control group. Whereas serum level of some hormones [FSH, LH and inhibin B] were significantly increase in 10DM patients with regular menstrual cycles when compared with the 10DM patients with irregular menstrual cycles. No significant difference between the control group and IDDM patient with good, moderate or poor metabolic control were found as regards serum estradiol level, FSH, LH and serum inhibin B level. We conclude that our young diabetic females after mean disease duration of 9 years and various metabolic control, had serum inhibin B and gonadotropins comparable to those of normal subjects. Therefore they seem to have a regular ovarian function and in particular granulosa and theca cells despite of sustained hyperglycemia

Pulmonary function changes in patient beta thalassaemia major

Thalassaemia major is the most common cause of chronic hemolytic anemia in Mediterranean population Aggressive blood transfusion therapy for thalassaemia permit better growth and preventing progressive marrow expansion and cosmetic problems. Iron overload from blood transfusion is the main cause of organ dysfunction. Lung function abnormalities in thalassaemia major are various and complex. The aim of the present work is to assess pulmonary function changes in beta thalassaemia major patients. Twenty-four children [14 males and 10 females with their ages ranging from 5 to 15 years] with beta thalassaemia major treated with desferoxamine injection were subjected to history taking, clinical evaluation, Echocardiography and pulmonary function tests [FVC and FEV1/FVC]. Patients with beta thalassaemia major showed significant decrease in FVC [83.37% +/- 6.79%of the predicted] when compared with the control group [92% +/- 1.76%of the predicted] [P=0.001]. This decreased FVC is positively correlated with hemoglobin concentration [P=0.001] and pulmonary acceleration time [P=0001] and negatively with left ventricular end diastolic diameter [P=0.001] and left ventricular end systolic diameter [P=0.001]. There was no significant difference between control group and patients with beta thalassaemia major as regards FEV1/FVC. This decrease in FVC was observed in all groups of the study with either regular or irregular intake of iron chelating agent when compared with control group. This restrictive impaired lung function can be explained by pulmonary hemosiderosis due to repeated blood transfusion and increased gastrointestinal iron absorption and also maybe related to cardiac changes that occurred in these patients

Serum leptin in children with bronchial asthma

Bronchial asthma is a chronic inflammatory disorder of the airways. Steroids as inhaled and systemic forms are used as a line for controlling moderate and severe forms of bronchial asthma. Leptin is a 16 kd protein produced predominantly in white adipose tissue. its major role in body weight regulation is to signal satiety to the hypothalamus. Most humans who are obese are not leptin-deficient but rather leptin-resistant and, thus, have elevated circulating leptin levels. in the present study, serum leptin level has been studied in 40 patients; 10 patients with bronchial asthma receiving systemic steroids, 10 patients with bronchial asthma receiving inhaled steroids, 10 patients with bronchial asthma not receiving steroids and 10 obese non asthmatic patients to uncover the effects of different types of steroid therapy on leptin level. Increased serum level of leptin was observed in patients with bronchial asthma receiving systemic steroids and obese non asthmatic patients when compared with the control group. Whereas, no significant increase in serum leptin level as regards patients with bronchial asthma receiving inhaled steroids or those not receiving steroids when compared with control group. Serum leptin level in bronchial asthma patients receiving systemic steroids was significantly increased more than those receiving inhaled steroids and those not receiving steroids. This increased leptin level was positively correlated with body mass index [BMI], fasting blood glucose, serum cholesterol and triglyceride levels and serum cortisol level suggesting the strong relation between leptin and degree of steroid changes and obesity in patients with and without bronchial asthma. This elevated leptin can be explained by the effect of systemic steroids and simple obesity on leptin level and we can conclude that inhaled steroids have no effect on serum leptin level and so on body fat store

Stem cell factor in children with liver diseases

Stem cell factor [SCF] is an important signal transduction factor implicated in survival, proliferation and differentiation of stem cells. It is produced by fibroblasts, liver cells, sertoli cells, bone marrow stromal cells and spleen cells. Chronic liver disease is a serious health problem in children. Theses chronic liver diseases include chronic viral hepatitis and congenital hepatic fibrosis. In the present study, serum SCF level has been studied in 30 patients with chronic liver diseases; 10 patients with congenital hepatic fibrosis, 20 patients with chronic viral hepatitis to uncover any role SCF in liver fibrosis. Increased serum level of SCF was observed in patients with chronic liver diseases when compared with the control group. This increase is also significant when comparing each group alone with the control group. SCF was significantly more increased in patients with chronic viral hepatitis when compared with congenital hepatic fibrosis. This increased SCF was negatively correlated with hemoglobin concentration, red blood corpuscular count, platelet count and serum albumin level and positively correlated with abnormal liver function tests suggesting the strong relation between SCF and degree of liver damage and degree of liver fibrosis occurring in chronic liver disease. This elevated SCF can be explained by proliferation and increase of stellate cells in liver fibrosis, which is established source of SCF. Increased level of SCF may be the cause of mast cell recruitment, proliferation and release of fibrinogenic factors, which are involved in pathogenesis of liver fibrosis and cirrhosis