This study was conducted to understand the pathogenetic mechanisms that are involved in the development of bone loss in children with severe haemophilia A (HA). Fourty-four children with severe HA and 40 age- and gender-matched healthy control subjects were enrolled in this study. Markers of bone remodelling and osteoclast regulation including serum bone specific alkaline phosphatase, parathormone, 25-hydroxy-vitamin D(3) (25HOvitD(3)), osteocalcin and calcitonin levels were studied. Bone mineral density (BMD) was also studied in all children. The measurement of markers of bone remodelling and osteoclast regulation suggested increased osteoclast-mediated resorption activity in children with severe HA. Although serum parathormone levels were significantly increased, serum 25HOvitD(3) and osteocalcin levels were significantly reduced. BMD was significantly reduced in severe haemophilics compared with healthy controls. There was also significant inverse correlation between BMD z-score and total joint scores, and insignificant inverse correlation between BMD z-score and single joint scores. There were also significant inverse correlation between 25HOvitD(3) and osteocalcin levels and total joint scores. Children with severe HA could have significantly reduced BMD, compared with gender- and age-matched healthy control subjects. Our results of the markers of bone remodelling and osteoclast regulation suggested that increased osteoclast-mediated resorption and decreased osteoblastic activity in children with severe HA. All children with severe HA should be routinely screened in terms of BMD.

Between January 2006 and December 2009, 37 radioisotope synovectomy (RS) in 18 severe haemophilic patients (factor 8<1%) have been performed at our centre. The distribution of joint injected was as follows: rhenium-186 [Re186], 19 joints (ankles, 8 and elbows, 11) and yttrium-90 [Y90] 18 joints (knees, 18). Their mean age was 12 years (range: 8-20 years). Mean follow-up period after procedure was 22.6 months. We preferred to use Y90 for all large joints and Re186 for small joints. Haemophilic patients with grade-II or III synovitis were selected for RS in our study. Radioisotope synovectomy was performed in eight ankles for seven patients, 11 elbows for seven patients and 18 knees for 13 patients. Mean bleeding counts before the procedure and after the procedure were as follows: Ankles, 3.43 vs. 0.62 (P=0.002); elbows, 3.12 vs. 0.55 (P=0.000); and 3.83 vs. 0.62 (P=0.011). No major complications requiring secondary treatments were observed. In summary, an early RS is the best way to halt the evolution of chronic haemophilia synovitis to devastating haemophilic arthropathy. Radioisotope synovectomy is very effective and safe in the treatment of chronic synovitis of children with haemophilia. Our data confirm the efficacy of RS for the treatment of chronic haemophilic synovitis, which has been previously published by many authors around the world. We highly recommend this procedure for developing countries to prevent joint disabilities. For a better and a healthier generation, RS has to be introduced in all the developing countries.

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The aim of this study was to evaluate aerobic exercise capacity, cardiac features and function in a group of asthmatic children who underwent medical treatment. Dynamic exercise testing was done to evaluate aerobic exercise capacity. Echocardiography was performed to identify the effects that asthma-induced pulmonary changes have on respiratory and cardiac function in these patients. The study involved 20 asthmatic children (aged 7-16 years) who were followed at our hospital and 20 age- and sex-matched, healthy control subjects. Sixteen of the asthma cases were moderate and four were severe. All 40 subjects underwent similar series of assessments: multiple modes of echocardiography, treadmill stress testing, pulmonary function testing. The means for forced expiratory volume in 1 sec, forced expiratory flow 25-75%, maximal voluntary ventilation and inspiratory capacity were all significantly higher in the control group. The patient group had significantly lower mean maximal oxygen uptake and mean endurance time than the controls but there were no significant differences between the groups with respect to respiratory exchange ratio or the ventilatory threshold. The control group means for ejection fraction, fractional shortening, left ventricular mass, and left ventricular mass index were significantly higher than the corresponding patient group results. Children with moderate or severe asthma have lower aerobic capacity than healthy children of the same age. The data suggest that most of these children have normal diastolic cardiac function, but exhibit impaired systolic function and have lower LVM than healthy peers of the same age.

Infantile malignant osteopetrosis (IMO; OMIM 259700) is a rare inherited bone disease characterized by reduced or dysregulated activity of osteoclasts, resulting in generalized osteosclerosis. The disease usually presents within the first few months of life with anemia, hepatosplenomegaly, frontal bossing, nystagmus, blindness, deafness, and bone fractures. Children with IMO are at risk of developing hypocalcemia, with attendant tetanic seizures. We report the case of a baby boy who presented with neonatal hypocalcemia. Skeletal radiographs demonstrated sclerotic bones and a dense base of the skull with typical "space alien" face confirming the diagnosis of IMO. Pancytopenia developed at 2 months of age. Visual evoked potential showed severe bilateral optic nerve damage. Genetic mutation study revealed a new mutation in exon 13 of the TCIRG1 gene. Neonatal hypocalcemia can occur as result of IMO, which is easily missed out by clinicians. This causes delay in establishing the diagnosis and starting necessary treatment. Therefore, osteopetrosis should be kept in mind as a rare cause of neonatal hypocalcemia.