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The condition usually resolves spontaneously or improves after the onset of puberty erectile dysfunction pills in store generic 100 mg kamagra with visa. Radiographs show dense metaphyseal bands and calcification of the interosseous membrane. Osteoporosis-pseudoglioma Syndrome this is a rare autosomal recessive inherited condition characterized by fragility fractures of long bones and vertebrae, blindness and learning difficulties. Secondary Osteoporosis Causes of secondary osteoporosis in childhood include reduced mobility, inflammation, hypogonadism, under-nutrition and treatment of underlying disorders with systemic glucocorticoids. In many chronic childhood conditions, several of these factors act together to compromise the skeletal health. In these children, muscle weakness and habitual inability to participate in normal load bearing activities results in reduced periosteal bone expansion. Risk factors for fracture in this group include non-ambulatory status, anticonvulsant use, presence of joint contractures, immobilization after surgery and poor nutrition. Duchenne muscular dystrophy is an X-linked recessive disorder due to mutations in the dystrophin gene, which leads to progressive muscle weakness, so that affected boys are wheelchair bound by early teen years. Unfortunately, glucocorticoids increase the fracture risk, both in long bones and vertebrae, which in turn accelerate the loss of ambulation in these boys. Management of Secondary Osteoporosis Unlike in adults, there are no clear guidelines for prevention and treatment of secondary osteoporosis in children. Secondary hypogonadism should be treated with appropriate hormone replacement therapy, under the supervision of a pediatric endocrinologist. Systemically administered bisphosphonates have also been used to treat children with secondary osteoporosis. The compassionate use of intravenous bisphosphonates for those with recurrent fragility fractures and/or bone pain may be justified. Such treatment should be undertaken by a pediatrician/ pediatric endocrinologist with expertise in assessment and management of pediatric bone disorders. Inchildren, lumbar spine and the whole body are the preferred sites for evaluation. The presence of a vertebral crush fracture or clinically significant other fractures(s) is important for the diagnosis. Osteoporosis in children can be classified as primary, due to an inherent bone disorder, or as secondary, caused by chronic disease and/or its treatment. Causes of secondary osteoporosis in childhood include reduced mobility, inflammation, hypogonadism, undernutrition and treatment of underlying disorders with systemic glucocorticoids. Osteoporosis due to Hypogonadism and Undernutrition Primary hypogonadism caused by conditions such as Turner syndrome, and secondary hypogonadism associated with thalassemia major and any chronic illness adversely affect skeletal health. Glucocorticoid-induced Osteoporosis Systemically administered glucocorticoids continue to be used as immune suppressants. The pathogenesis of glucocorticoid-induced osteoporosis is mutifactorial; glucocorticoids act on osteoblasts causing a reduction in bone formation and they increase bone resorption by stimulating osteoclastogenesis. They also inhibit calcium absorption from the gastrointestinal tract and decrease the renal tubular reabsorption of calcium. Glucocorticoidinduced myopathy also contributes to bone loss through reduced mechanical loading of the skeleton. Normative data and percentile curves for Dual Energy X-ray Absorptiometry in healthy Indian girls and boys aged 5-17 years. This increase has been mainly due to high calorie diet and lifestyle changes (see also Chapter 19. But obesity is a result of interaction between genetic factors and environmental factors. In contrast to this common garden-variety obesity, however, there exist rarer causes of obesity due to abnormalities of specific genes, also known as monogenic obesity. These genes play an important physiological role in the leptin-melanocortin system of energy balance as well as the development and function of the hypothalamus. Identification of these mutations has significantly helped unravel the role of the leptin-melanocortin system as well as the hypothalamus in the energy homeostasis of the body. The classically recognized syndromic obesity like Bardet-Biedl, Prader-Willi, Alstrom, and others are due to genetic pleiotropy (when one gene influences multiple, seemingly unrelated phenotypic traits). Characteristic features of monogenic obesity/ obesity syndromes are briefly outlined in Table 1. The effective output is a change in food intake behavior, and basal energy expenditure. Leptin is a peptide hormone secreted by white adipose tissue in proportion to the body fat mass. Mutations with ghrelin and ghrelin receptor associated with obesity are also reported, but not well established and will not be further discussed here. Daily subcutaneous injections of recombinant human methionyl-leptin (R-metHuLeptin) results in impressive weight loss, reduction in fat mass, resumed pubertal progression, as well as improved thyroid and immune function. Leptin Receptor Deficiency Homozygous mutation in the LepR has clinical features similar to leptin deficiency with rapid weight gain starting early in infancy. Serum leptin levels are elevated but in proportion to the body fat mass, and not excessively as one would expect from a receptor deficiency. This disorder is characterized by severe early-onset obesity, extremely low serum leptin level, and successful treatment with exogenous leptin. These individuals have normal birthweight, but develop severe hyperphagia in early infancy and become increasingly obese by 3­4 months. These patients may also have insulin resistance, hyperglycemia, hypogonadotropic hypogonadism and impaired hypothalamicpituitary-thyroid axis. There is severe obesity from early infancy with food seeking behavior, but they are otherwise non-syndromic with no peculiar abnormalities and attain normal puberty. Deficits in these genes therefore, may present with impairment in these functions in addition to hyperphagia and severe obesity.

The aortic ejection click must be distinguished from tricuspid component (T1) of S1 and S4 and pulmonary ejection clicks erectile dysfunction pills herbal 50 mg kamagra buy mastercard. The splitting of the S2 may be normal, narrow, absent or paradoxical due to delayed A2, according to the severity of stenosis. They often get wrongly interpreted to have right heart failure due to presence of epigastric pulsations and hepatomegaly. Two-dimensional assessment (2-D mode) of aortic root is done at 4 levels: the annulus, the sinuses of Valsalva, sinotubular junction and the proximal ascending aorta. The parasternal long axis view is the best view to measure the aortic valve annulus and aortic root. Ascending aorta is evaluated in right high parasternal view and arch and descending aorta can be seen in suprasternal views. The major aortic abnormalities like progressive dilatation of aortic root, coarctation of aorta, dissection of aorta or carotid arteries must be looked for. Management Medical Management the decongestive management is needed for patients presenting with the left ventricular failure. Cardiovascular Disorders Doppler Echocardiography Normally, blood flow across the aortic valve is laminar and peak systolic velocity of blood flow across the valve rarely exceeds 1. The catheter derived peak-to-peak gradient is best corresponds with mean Doppler gradient and is the gold standard. The mechanical prosthetic replacement has shown acceptable long-term results but needs lifelong anticoagulation. The reoperation rate for mechanical prosthetic replacement is 55­90% on 15 years follow-up. Role of Exercise Testing Exercise testing can identify the limited exercise capacity and reveal symptoms in many (usually onethird) apparently asymptomatic children and adolescents. The dilatation of aortic root beyond 45 mm makes it vulnerable for aortic dissection or rupture. There may be smooth muscle hypertrophy, abnormal elastic fibers or varying degree of collagenization of media. Stenosis of peripheral arteries like renal and mesenteric artery may be seen in 30% cases. Mostly, there is the marked increase in the pressure of pulse of right upper limb (asymmetrical pulse in upper limb), an important clue to clinical diagnosis. This is known as Coanda effect and happens due to preferential flow of blood towards right upper limb. Additionally, there might be bruit over peripheral arteries suggesting stenosis of the arteries. Common associations (present in 20­ 25% cases) are ventricular septal defect, atrioventricular septal defect, patent ductus arteriosus and bicuspid aortic valve, Shone complex, interrupted aortic arch and persistent left superior vena cava. At times obstruction of left ventricular outflow tract may be present at more than one level. Aortic stenosis can present in neonatal period, remain asymptomatic, or present anytime in childhood. In older children, exertional dyspnea, angina pectoris, and syncope are the characteristic features in moderate to severe stenosis. The aortic valvar stenosis is the most common, while subaortic and supravalvar aortic stenosis are infrequent and they rarely manifest in early infancy. The supravalvar stenosis is usually suspected when child has certain dysmorphic facial features suggestive of William syndrome. The 2D, 3D transthoracic or transesophageal echocardiography with color and spectral Doppler are diagnostic; it evaluates its anatomical and functional aspects as well as the role of dynamic component. Cardiovascular Disorders Treatment Medical Management the -blockers and calcium channel blockers help in reducing the contractility and hence they reduce dynamic component of the obstruction. Bicuspid aortic valve­A silent danger: analysis of 50 cases of infective endocarditis. The dilemma of subaortic stenosis-a single center experience of 15 years with a review of the literature. Therefore, management has to be customized and overall outcome cannot be predicted. With a normal or high Hb content, desaturation will produce a significant amount of reduced Hb to cause cyanosis, while in severely anemic infant, even in the presence of desaturation; reduced Hb will not reach the value to cause clinical cyanosis. In a fair-skinned child, saturation below 85% is required to produce clinical cyanosis. To put it in a different way, congenital cyanotic heart diseases are anomalies in which some systemic venous return will inevitably reach the systemic circulation without passing through lung. There are however many potential pitfalls in clinical recognition of congenital cyanotic heart disease. Occasionally, differential cyanosis can occur-upper limbs are pink and lower limbs are blue or alternatively, upper limbs blue and lower limbs pink. Clinical differential cyanosis requires at least a difference of 10% saturation between upper limbs and lower limbs. Some may have some deviation from the set pattern, which may help in reaching a more specific diagnosis. Right ventricle dilates and develops dysfunction causing considerable cardiac enlargement.

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Viral serology often leads to incorrect diagnosis because of the high prevalence of IgG antibodies in the general population and positive serology does not confirm myocardial infection erectile dysfunction after stopping zoloft cheap 100 mg kamagra with mastercard. Treatment with immunosuppressive agents such as cyclosporine, prednisolone and azathioprine in acute myocarditis remains controversial. Infectious disease specialists should be consulted while considering the use of specific antiviral therapies, including use of interferon. Primary cardiomyopathies are further divided into genetic, mixed (genetic and nongenetic) and acquired. Secondary cardiomyopathies Myocardial involvement is part of generalized systemic disorders involving other organ systems. The mixture of morphology and physiology inherent within this classification can lead to overlapping cases. Follow-up After resolution of the clinical presentation (at least 6 months after the onset of the disease), clinical reassessment is indicated before the child resumes competitive sport. Neither the severity of inflammation nor the detection of viral genome has been shown to be a predictor of poor outcome. However, newborns and infants have a significantly higher mortality rate compared to older children and adolescents (75% vs. Compensatory neurohumoral activation mechanisms are able to restore cardiovascular function to a normal homeostatic range for a short period of time. Primary cardiomyopathies Here, the disease state is solely or predominantly confined to myocardium. Current heart failure treatment is targeted to reverse or reduce this maladaptive remodeling. Epidemiology/Genetics Hypertrophic cardiomyopathy, an autosomal dominantly inherited condition with a prevalence of 0. There are about 1,500 identified mutations in almost 11 genes encoding the contractile component of sarcomeres. Recent literature has suggested that a mutation in is associated with cardiomyopathy and heart failure in South Asian populations. This 25-bp deletion mutation has been found in 4% of individuals in the Indian subcontinent with higher prevalence reported from western and southern India. Lately an emerging subgroup has been identified known as genotype-positive phenotype-negative group. Prognosis Dilated cardiomyopathy is the most common cause of heart transplantation in adult and children. Edges (lines) connect each phenotype to the genes that have been implicated in the etiology. With sustained impaired diastolic function, left atrial enlargement and pulmonary venous congestion leading to congestive symptoms occur. This could be secondary to either increased capillary density compared to greatly increased muscle mass or small vessel disease with narrowed intramural coronary arteries. The murmur of mitral insufficiency is a soft, blowing holosystolic murmur best heard at apex. Premature ventricular contractions or various degrees of heart blocks may be seen. Cardiac magnetic resonance imaging is indicated when echocardiography is inconclusive. Patients who undergo genetic testing should also receive genetic counseling by a genetic specialist. Propranolol is preferred for infants and children while atenolol is preferred for adolescents. Medical management can offer symptomatic relief; however it cannot reduce the risk of sudden death or heart failure. Affected individuals should be restricted from moderate to high intensity competitive sports. Comorbidities like hypertension, diabetes, hyperlipidemia or obesity should be treated. Prognosis Hypertrophic cardiomyopathy with a diverse clinical presentation and course has annual mortality rate which is slightly higher in children compared to adults (2% vs. With left ventricular involvement, cough, dyspnea, chest pain, exercise intolerance or syncope may occur. Syncope occurs in about 10% of this population and could be secondary to thromboembolism, ischemia or arrhythmias. With right ventricular involvement, lower limb edema, hepatomegaly and ascites may occur. Crackles in lungs, hepatomegaly, ascites, and edema are also common findings in advanced disease. Etiology Restrictive cardiomyopathy can be caused by multiple etiologies as given in Table 9. Diagnosis Chest X-ray is usually positive for cardiomegaly from enlarged atria, pulmonary venous congestion and occasionally pleural effusion. Most ventricular filling occurs in rapid filling phase with little or no filling in late diastole. Because of the stiff ventricular walls, ventricular filling pressures are increased, leading to marked atrial dilation. Naxos disease with mutations in plakoglobin (palmoplantar keratoderma and woolly hair) and Carvajal syndrome (mutation in desmoplakin,) are two recessive forms with this type of cardiomyopathy. Possible infection/inflammatory process by coxsackievirus B13 and adenovirus have been implicated. Although ventricular wall dimensions are normal in the majority of the cases, it is not unusual to find various degrees of hypertrophy.