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A retrospective study was conducted to determine which types of children might have polysomnographic findings that are most compatible with obstructive sleep apnea (OSA). The charts of 93 patients who were aged 18 months to 12 years were examined. All 93 patients had symptoms that were initially suggestive of OSA, and they underwent polysomnography. The types of presenting symptoms and associated illnesses were noted. Physical findings, including height, weight, and tonsil size, were examined. Of 93 patients with symptoms that were suggestive of OSA, 34 met sleep study criteria for OSA. In 44 patients, OSA was not demonstrated, and 15 patients had other results. On the basis of age, sex, and symptoms, no significant differences could be found between the group with OSA and the group with normal polysomnographic findings. Cor pulmonale, tonsil hypertrophy, and failure to thrive were associated with OSA. Surprisingly, obesity was not significantly associated with OSA.
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PMID:Polysomnographic and clinical findings in children with obstructive sleep apnea. 162 96

This report describes a 37-year-old man presenting with a gait disturbance due to spastic paraparesis. Physical findings showed typical features of Albright's hereditary osteodystrophy, including short stature, obesity, brachydactyly and dental hypoplasia. He was diagnosed as having pseudohypoparathyroidism type Ia, on the basis of his hypocalcaemia, hyperphosphataemia, increased plasma level of parathyroid hormone (PTH), and the unresponsiveness to exogenous PTH loading of his urinary excretion of both nephrogenous cyclic adenosine monophosphate and phosphate. Magnetic resonance imaging and myelographic computed tomographic scans clearly demonstrated severe compression of the spinal cord at T 9/10 by tumour-like ossifications of the paravertebral ligaments. Neurosurgical decompression therapy was, therefore, performed to alleviate his spastic paraparesis. This was a rare case of pseudohypoparathyroidism complicated with spinal cord compression caused by ectopic ossification of the ligaments.
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PMID:Spinal cord compression by heterotopic ossification associated with pseudohypoparathyroidism. 942 70

We reported a rare case of simultaneous primary aldosteronism and preclinical Cushing's syndrome due to unilateral double adrenocortical adenomas in a 57 year-old woman who had had hypertension for the last 10 years. Abdominal computed tomography showed double tumors in her right adrenal gland. Physical findings revealed simple obesity and hypertension, but no other abnormal findings were detected. Laboratory findings demonstrated that serum potassium was 3.8 mmol/l; plasma renin activity, 0.3 ng/ml/h; plasma aldosterone, 100 pg/ml, and aldosterone renin ratio (ARR), 33. Serum cortisol was 15.7 microg/dl. There was no circadian rhythm of serum cortisol, and no suppression of serum cortisol in response to exogenous dexamethasone administration. Right adrenalectomy was performed under laparoscopy. Two well-circumscribed tumors, whose sizes were 21 and 19 mm in greatest diameter, were detected. They were macroscopically composed of a golden-yellow portion admixed with a brown portion, which corresponded to clear cells and compact cells, respectively. Immunohistochemical staining for steroidogenic enzymes demonstrated the presence of all the enzymes involved in corticosteroidogenesis in these two adenomas, indicating that the two adenomas produced both cortisol and mineralocorticoid. Specifically, one adenoma mainly caused excessive production of cortisol as compared to the other one. These findings indicate that overproduction of both cortisol and mineralocorticoid was evident in the two adenomas of the right adrenal gland in immunohistochemical study for steroidogenic enzymes, whereas there was less clinical manifestation of primary aldosteronism and Cushing's syndrome in the present patient.
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PMID:Possibly simultaneous primary aldosteronism and preclinical Cushing's syndrome in a patient with double adenomas of right adrenal gland. 1737 61

A 15-yr-old male patient with congenital adrenal hyperplasia (CAH) was referred to our department with a one year history of gradual worsening of tremors. He was diagnosed with salt-wasting 21-hydroxylase deficiency CAH at 40 d old and was started on hydrocortisone, fludrocortisone and salt. He was found to have hypertension at 8 yr of age. Detailed investigations failed to detect any cause for secondary hypertension. Physical findings on the current hospitalization objectified obesity, blood pressure of 150/80 mmHg, postural and action tremor, left cerebellar syndrome, reflex tetra pyramidal syndrome and mental decline. Brain magnetic resonance imaging (MRI) showed bilateral periventricular white matter hyperintensity that was more pronounced in the posterior regions and associated with cortico-subcortical atrophy and complete agenesis of the corpus callosum. All investigations for leukoencephalopathy were negative. A diagnosis of brain MRI abnormalities related to CAH was made, and the patient received symptomatic treatment of tremors. Our case report provides evidence of an increased frequency of brain MRI abnormalities in CAH. The literature suggests hormonal imbalance and exposure to excess exogenous glucocorticoids as main probable mechanisms. Thus, in clinical practice, CAH should be considered as one of the possible causes of brain white matter involvement associated with or without cerebral atrophy.
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PMID:Congenital adrenal hyperplasia and brain magnetic resonance imaging abnormalities. 2392 86

Primary disorders of lipid metabolism causing hypertriglyceridemia (HyperTG) result from genetic defects in triglyceride synthesis and metabolism. With the exception of lipoprotein lipase deficiency, these primary HyperTG disorders usually present in adulthood. However, some are unmasked earlier by precipitating factors, such as obesity and insulin resistance, and can be diagnosed in adolescence. Physical findings may be present and can include eruptive, palmer, or tuberoeruptive xanthomas. Triglyceride levels are very high to severe and can occur in the absence or the presence of other lipid abnormalities. Each of the causes of HyperTG is associated with an increased risk to develop recurrent pancreatitis and some may increase the risk of premature cardiovascular disease. Adoption of a healthy lifestyle that includes a low-fat diet, optimizing body weight, smoking avoidance/cessation, and daily physical activity is the first line of therapy. Pharmacologic therapies are available and can be beneficial in select disorders. Here, we review the causes of primary HyperTG in children and adolescents, discuss their clinical presentation and associated complications including the risk of pancreatitis and premature cardiovascular disease, and conclude with management and novel therapies currently in development. The goal of this article is to provide a useful resource for clinicians who may encounter primary HyperTG in the pediatric population.
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PMID:Primary hypertriglyceridemia in children and adolescents. 2634 9

Childhood is a crucial period affecting physical and intellectual development. Although children living in orphanages are among the most vulnerable groups at risk of malnutrition, there is scarcity of data concerning their nutritional status in Lebanon. To investigate these data, a cross-sectional survey was conducted including a sample of 153 institutionalized children aged 5-14 years from all orphanages in Tripoli. Nutritional status was assessed using anthropometric, clinical, and dietary tools. Interpretation of anthropometric data showed that 13.8% were stunted while the prevalence of overweight/obesity was 9.2% according to the World Health Organization (WHO) reference criteria. Physical signs suggesting nutritional deficiencies were detected in about 25% of the sample. Dietary intake evaluation showed that about half of the participants had inadequate dietary intakes of proteins, fruits, and vegetables and 92% had inadequate milk and dairy intakes recommended for their age specific needs. Multivariate regression analysis revealed statistically significant positive association of age, skipping breakfast, and increased screen time with stunting while it showed statistically significant negative association of inadequate protein intake with overweight/obesity. The coexistence of under- and overnutrition among institutionalized children calls for implementation of comprehensive intervention strategies committed to reducing undernutrition while simultaneously preventing overnutrition through improving diet quality and physical activity of these children.
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PMID:The Dual Burden of Malnutrition and Associated Dietary and Lifestyle Habits among Lebanese School Age Children Living in Orphanages in North Lebanon. 2842 Nov 43