Cardiovascular involvement in children with osteogenesis imperfecta

Osteogenesis imperfecta is a hereditary disease resulting from mutation in type I procollagen genes. One of the extra skeletal manifestations of this disease is cardiac involvement. The prevalence of cardiac involvement is still unknown in the children with Osteogenesis imperfecta. The present study aimed to investigate the prevalence of cardiovascular abnormalities in these patients. 24 children with Osteogenesis imperfecta and 24 normal children who were matched with the patients regarding sex and age were studied. In both groups, standard echocardiography was performed, and heart valves were investigated. Dimensions of left ventricle, aorta annulus, sinotubular junction, ascending and descending aorta were measured and compared between the two groups. The results revealed no significant difference between the two groups regarding age, sex, ejection fraction, shortening fraction, mean of aorta annulus, sinotubular junction, ascending and descending aorta, but after correction based on the body surface area, dimensions of aorta annulus, sinotubular junction, ascending and descending aorta in the patients were significantly higher than those in the control group [P<0.05]. Two [8.3%] patients had aortic insufficiency and five [20%] patients had tricuspid regurgitation, three of whom had gradient >25 mmHg and one patient had pulmonary insufficiency with indirect evidence of pulmonary hypertension. According to Z scores of aorta annulus, sinotubular junction and ascending aorta, 5, 3, and 1 out of 24 patients had Z scores >2 respectively. The prevalence of valvular heart diseases and aortic root dilation was higher in children with Osteogenesis imperfecta. In conclusion, cardiovascular investigation is recommended in these children

side effects of gonadotropin releasing hormone analog [Diphereline] in treatment of idiopathic central precocious puberty

Treatment of central precocious puberty [CPP] is the administration of GnRH analogs. Metabolic syndrome comprised metabolic disturbances that confer increased risk of [CVD] diabetes mellitus [DM] and cardiovascular disease. This study is a longitudinal prospective study in pediatric endocrinology clinic. 30 non-obese children with idiopathic CPP were involved. Total body weight, height, blood pressure, BMI and waist circumference of the patients along with their triglyceride [TG], total cholesterol [TC], low density lipoprotein [LDL], high density lipoprotein [HDL], fasting plasma sugar [FPS] were evaluated at the beginning and during 3 and 6 months GnRH analog therapy. All of the patients involved in this study were female with age 9.5 +/- 1.02 years. Waist circumference, weight and BMI were 69.3 cm, 37.21 kg, and 19.13 kg/cm[2] before therapy and 72.25 cm, 40.11 kg, and 19.54 kg/m[2] 6 months after therapy respectively. Mean systolic and diastolic blood pressure of the patients before therapy was 96.83 mmHg, 66mmHg and after 6 months therapy was 98.66 mmHg, 89.63 mmHg respectively. Mean TG, LDL, HDL and FPS were 90.06 mg/dl, 91.6 mg/dl, 43.7 mg/dl and 89.6 mg/dl before therapy and 96.4 mg/dl, 93.1 mg/dl, 44.7 mg/dl and 91.36 after 6 months therapy respectively. GnRH analog therapy doesn't cause metabolic syndrome after 3 and 6 month therapy but it may cause hyperlipidemia and central obesity

Evaluation of congenital hypothyroidism in Fars province, Iran

In Iran thyroid-stimulating hormone [TSH] based neonatal screening program is included in health care services from 2005 for detection of patients with primary congenital hypothyroidism [CH]. This study was performed for a critical evaluation of the screening program primary congenital hypothyroidism in Fars province, Iran. From November 2006 to September 2007, TSH serum concentrations of 63031 newborns, 3 to 5 days old born in Fars province, were measured by heel prick. The newborns with TSH >/= 5mIU/L were recalled for measurement of serumT4 and TSH in venous blood samples Of 127 recalled subjects, 43 were confirmed to be hypothyroid, showing a prevalence of 1:1465 with F:M ratio of 1.05:1. The most common clinical and radiological findings were prolonged jaundice [73%], large anterior fontanel [56%], wide posterior fontanel [55%], absence of distal femoral epiphysis [20%], and umbilical hernia [11%]. Scintigraphy of the thyroid with [99m]TC revealed eutopia [67.4%], hypoplasia [23.3%], agenesis [4.7%] and ectopia [2.3%]. It is concluded that a cut off value of TSH >/= 5mIU/L overestimates recalling the number of patients with CH. The most common cause of congenital hypothyroidism is not dysgenesis of the gland and perhaps dyshormonogenesis in Iran is more common than what is reported in other countries

Incidence of neonatal hyperphenylalaninemia in pars province, South Iran

Phenylalanine hydroxylase or its cofactor, tetrahydrobiopterin [BH[4], deficiency causes accumulation of phenylalanine in body fluids and central nervous system. Considering the fact that hyperphenylalaninemia is a preventable cause of mental retardation in infants, the objective of this study was to determine the incidence of congenital hyperphenylalaninemia in Pars province, south of Iran. In a period of one year from November 2007 to November 2008 blood samples were withdrawn from all newborns born in Pars province for measurement of serum phenylalanine. The samples with a serum level of >/= 2 mg/dl were referred to pediatric endocrine clinic for confirmation and determination of the type of hyperphenylalaninemia by quantitive serum phenylalanine measurements by using High-Pressure liquid chromatography [HPLC] method. Nine out of 76966 newborns had a serum phenylalanine level >/= 2mg/dl, of which 8 cases were confirmed by HPLC. The incidence of the disease was 1:10000. The incidence of mild hyperphenylalaninemia and phenylketonuria [PKU] among the patients was 62.5% and 37.5% respectively and the incidence of BH4 deficiency was 1/76966. These findings indicate a high incidence of hyperphenylalaninemia, in the newborns from Pars province. The high incidence makes a comprehensive screening program "for management of the disease necessary

Association of distal renal tubular acidosis with hypercalcemia; report on three cases

Hypercalcemia is an endocrine emergency that should be diagnosed as soon as possible and managed carefully. For better management multiple causes of hypercalcemia must be taken into consideration. We observed three infants with hypercalcemia and distal renal tubular acidosis at the time of diagnosis during 5 years. The patients were referred with severe dehydration and failure to thrive. There was no reason for hypercalcemia found in these patients except distal renal tubular acidosis. So we suggest distal renal tubular acidosis as a cause for hypercalcemia

Evaluation of microalbuminuria 4 to 6 years following type 1 diabetes in children

Diabetic nephropathy is one of the major complications and a leading cause of mortality and morbidity in diabetes mellitus. Microalbuminuria is the earliest sign of diabetic nephropathy and it is highly related to glycemic control. Progression of diabetic nephropathy is mostly asymptomatic until advanced stages of renal failure. In this study microalbuminuria and its correlation with duration of diabetes and quality of diabetes control [HbAIc level] is evaluated in 50 children with type 1 diabetes mellitus. Fifty children 4 to 6 years following the onset of type 1 diabetes, below 20 years of age, were enrolled in this study. Twenty four hrs urine was checked twice within 3 to 6 months period for microalbuminuria by nephelometry method and values >30 mg/24hrs were ponsidered abnormal. Also HbAIc level and FBS level assessed simultaneously. Mean FBS level during the years of diabetes and number of attacks of DKA were. Fifty children, 4 to 19 years old with mean age of 14.54 +/- 3.62 years, 28 [56%] males Completed the study. Nineteen [38%], 14 [28%] and 17 [34%] children enrolled in this study 4, 5, 6 after the onset of their diabetes respectively. At 1[st] evaluation microalbuminuria was detected in [26.3%], 4 [28.6%] and 6 [35.3%] children, 4, 5, 6 years after diabetes respectively. At 2[nd] evaluation these values were 4 [21.1%], 6 [42.9%] and 7 [41.2%] respectively. There was no Significant correlation between HbAIC level, FBS level, and mean FBS level during the years of diabetes in microalbuminuric and non-microalbuminuric children. Despite small sample size of this study, microalbuminuria was detected in children even 4 years after the onset of diabetes and its frequency increased in children with 5 and 6 years of diabetes. We recommend earlier than usual recommendations for microalbuminuria screening in diabetic children

Xeroderma pigmentosum with neurological complications: the desanctis-cacchione syndrome

A 7 year old boy with DeSanctis-Cacchione syndrome - xeroderma pigmentosum, microcephaly, mental deficiency, dwarfism and gonadal hypoplasia - will be presented