1/36. Bone amyloidoma in a diabetic patient with morbid obesity.Bone localisations of amyloidosis are rare, usually diffuse and associated with myeloma. We report the case of a patient with massive obesity complicated by diabetes, hypertension, sleep apnea and liver steatosis, who complained of rapidly worsening bilateral polyradiculalgia of the lower limbs. After sufficient weight loss made nuclear magnetic resonance imaging feasible, a spinal tumour was visualised on the 5th lumbar vertebra, extending to soft tissues. Total excision was performed, and pathological studies revealed an amyloid bone tumour with no evidence of myeloma.- - - - - - - - - - ranking = 1keywords = bone (Clic here for more details about this article) |
2/36. hypopituitarism in langerhans cell histiocytosis: seven cases and literature review.central nervous system (CNS) involvement and, in particular, hypothalamic-pituitary involvement are well described features of Langerhans cell histiocytosis (LCH). The actual incidence of CNS-LCH disease is unknown and the natural history is poorly understood. diabetes insipidus (DI) is reported to be the most common and well described manifestation of hypothalamic-pituitary involvement (up to 50%). Anterior pituitary dysfunction has been reported in up to 20% of patients with LCH, and occurs almost exclusively concurrently with DI. In the current paper we describe our experience with 7 patients (6 females and 1 male) in whom hypothalamicpituitary involvement was a major feature of LCH. diagnosis was made in 4 patients during childhood or adolescence, and 3 patients were over 18 years old at the time of diagnosis. Our series exemplifies the wide spectrum of LCH-induced hypopituitarism, and demonstrates some unique features, including a higher incidence of CRH/ACTH deficiency compared to other reports (4/7 patients), and massive obesity in 2 of our patients. Endocrine function was not improved in any of our patients following medical treatment of LCH with chemotherapy and glucocorticoids. We conclude that pituitary-hypothalamic dysfunction is a common feature of LCH, and therefore all LCH patients should undergo a thorough endocrine evaluation periodically.- - - - - - - - - - ranking = 159.79035506397keywords = endocrine (Clic here for more details about this article) |
3/36. Non-myeloablative haematopoietic stem cell transplantation for severe aplastic anaemia with various complications.We report a 20-year-old-male with severe aplastic anaemia who was treated with nonmyeloablative haematopoietic stem cell transplantation (NSCT) from a sibling donor. As the patient presented with complications consisting of mental retardation, severe obesity, a bone fracture, and recurrent infections, we selected NSCT instead of a myeloablative regimen, to reduce regimen-related toxicity (RRT). Conditioning therapy consisting of busulfan, fludarabine, antithymocyte globulin and FK506 was used to obtain immune suppression. RRT was limited and he is now in complete remission 19 months after NSCT. On day 91, he developed chronic graft-vs.-host disease; it was resolved by the combination of FK506, corticosteroids, and mycophenolate mofetil. Our experience contributes to the growing interest in NSCT as a modality for treating not only malignant haematological disorders associated with complications, but also nonmalignant haematological diseases.- - - - - - - - - - ranking = 1keywords = bone (Clic here for more details about this article) |
4/36. Beneficial effects of leptin on obesity, T cell hyporesponsiveness, and neuroendocrine/metabolic dysfunction of human congenital leptin deficiency.The wide range of phenotypic abnormalities seen in the leptin-deficient ob/ob mouse and their reversibility by leptin administration provide compelling evidence for the existence of multiple physiological functions of this hormone in rodents. In contrast, information regarding the roles of this hormone in humans is limited. Three morbidly obese children, who were congenitally deficient in leptin, were treated with daily subcutaneous injections of recombinant human leptin for up to 4 years with sustained, beneficial effects on appetite, fat mass, hyperinsulinemia, and hyperlipidemia. leptin therapy resulted in a rapid and sustained increase in plasma thyroid hormone levels and, through its age-dependent effects on gonadotropin secretion, facilitated appropriately timed pubertal development. leptin deficiency was associated with reduced numbers of circulating CD4( ) T cells and impaired T cell proliferation and cytokine release, all of which were reversed by recombinant human leptin administration. The subcutaneous administration of recombinant human leptin has major and sustained beneficial effects on the multiple phenotypic abnormalities associated with congenital human leptin deficiency.- - - - - - - - - - ranking = 639.1614202559keywords = endocrine (Clic here for more details about this article) |
5/36. triiodothyronine supplementation for hypothalamic obesity.patients with suprasellar lesions develop profound hypothalamic obesity and listlessness with no effective treatment. We added triiodothyronine (T(3)) supplementation in 3 such patients and present their response. All had previous nutritional counseling without benefit. All were treated for diabetes insipidus (DI) and hypopituitarism; serum free thyroxine (T(4)) level was normal. A 24-year-old woman (pineal tumor and astrocytoma) had weight gain (4.7 kg/yr for 3 years), cold intolerance, fatigue, dry skin, and constipation; after T(3), she lost 14 kg over 27 months and reported overall improvement. Her bone mineral density also improved. A 10.6-year-old boy (optic glioma) was gaining 6 kg/yr for 4 years; after T(3) supplement, he lost 4.3 kg over 11 months. A 12-year-old girl (mixed germ cell tumor) had weight gain (8.3 kg/yr for 3 years) and listlessness; after T(3), she lost 8.1 kg over 16 months and had improved alertness. All patients were asymptomatic despite supraphysiologic T(3) levels. We suggest that T(3) may serve as a simple and effective supplement, which can promote weight loss and improve the well being of these patients with hypothalamic obesity.- - - - - - - - - - ranking = 1keywords = bone (Clic here for more details about this article) |
6/36. Severe metabolic bone disease as a long-term complication of obesity surgery.BACKGROUND: Metabolic bone disease is a well-documented long-term complication of obesity surgery. It is often undiagnosed, or misdiagnosed, because of lack of physician and patient awareness. Abnormalities in calcium and vitamin D metabolism begin shortly after gastrointestinal bypass operations; however, clinical and biochemical evidence of metabolic bone disease may not be detected until many years later. CASE REPORT: A 57-year-old woman presented with severe hypocalcemia, vitamin d deficiency, and radiographic evidence of osteomalacia, 17 years after vertical banded gastroplasty and Roux-en-Y gastric bypass. Following these operations, she was diagnosed with a variety of medical disorders based on symptoms that, in retrospect, could have been attributed to metabolic bone disease. Additionally, she had serum metabolic abnormalities that were consistent with metabolic bone disease years before this presentation. Radiographic evidence of osteomalacia at the time of presentation suggests that her condition was advanced, and went undiagnosed for many years. These symptoms and laboratory and radiographic abnormalities most likely were a result of the long-term malabsorptive effects of gastric bypass, food intake restriction, or a combination of the two. CONCLUSION: This case illustrates not only the importance of informed consent in patients undergoing obesity operations, but also the importance of adequate follow-up for patients who have undergone these procedures. A thorough history and physical examination, a high index of clinical suspicion, and careful long-term follow-up, with specific laboratory testing, are needed to detect early metabolic bone disease in these patients.- - - - - - - - - - ranking = 9keywords = bone (Clic here for more details about this article) |
7/36. Monopharmacologic general anaesthesia with sevoflurane in paediatric patient with prader-willi syndrome.prader-willi syndrome (PWS) is a genetic disease caused by a loss of paternal genes located in chromosome 15. Children affected by this syndrome often have preterm delivery; during childhood the hallmarks are: severe infantile hypotonia and feeding problems. Afterward, neurologic manifestations, endocrine signs and dysmetabolic abnormalities are usually seen together with craniofacial manifestations and musculoskeletal abnormalities. obesity causes sleep abnormalities including sleep apnea. The case we present is of a 5 year old child (CA) scheduled for strabismus surgery. The child has a lot of typical (PWS) signs. A number of anaesthesiologic problems are associated with (PWS). Some of them relate to obesity, others to facial dysmorphism. Moreover, the syndrome may give a prolonged and exaggerated response to every sedative drug. P.W.S. is also characterized by thermoregulatory disorders. sleep apnea occurs often. Considering all these problems, we planned a monopharmacologic anaesthesiologic procedure using sevoflurane.- - - - - - - - - - ranking = 159.79035506397keywords = endocrine (Clic here for more details about this article) |
8/36. Tall stature and progressive overweight in mitochondrial encephalopathy.We describe two children carrying an inherited T899C mutation in the mitochondrial ATPase 6 gene with mild encephalopathy and normal postnatal growth followed by tall stature and obesity. No familial tall stature, endocrine anomaly or advanced skeletal age were present. failure to thrive is a characteristic finding in most patients with a mitochondrial disease. Our observations suggest that children with encephalomyopathy, even in the presence of a significant clinical overgrowth, should be screened for a possible defect in oxidative phosphorylation.- - - - - - - - - - ranking = 159.79035506397keywords = endocrine (Clic here for more details about this article) |
9/36. Congenital leptin deficiency due to homozygosity for the Delta133G mutation: report of another case and evaluation of response to four years of leptin therapy.Congenital leptin deficiency is a rare, but treatable, cause of severe early-onset obesity. To date, two United Kingdom families of Pakistani origin carrying a frameshift/premature stop mutation, c.398delG (Delta133G), and one Turkish family carrying a missense mutation, c.313C>T (Arg(105)Trp), have been described. Affected subjects are homozygotes and manifest severe obesity and hyperphagia accompanied by metabolic, neuroendocrine, and immune dysfunction. The effects of recombinant leptin therapy have been reported in three children with the Delta133G mutation, and in all cases this has led to a dramatic resolution of clinical and biochemical abnormalities. We now report a Canadian child, of Pakistani origin but unrelated to the previously reported subjects, presenting with severe hyperphagia and obesity, who was found to be homozygous for the Delta133G mutation. In this child, 4 yr of therapy with sc injections of recombinant leptin provided additional evidence for the sustained beneficial effects of leptin replacement on fat mass, hyperinsulinemia, and hyperlipidemia. In addition, leptin administration corrected abnormal thyroid biochemistry and allowed the withdrawal of T(4) treatment, providing additional support for the role of leptin in the regulation of the human hypothalamic-pituitary-thyroid axis.- - - - - - - - - - ranking = 159.79035506397keywords = endocrine (Clic here for more details about this article) |
10/36. Cushing's disease in childhood as the first manifestation of multiple endocrine neoplasia syndrome type 1.OBJECTIVE: To describe three cases of Cushing's disease in children with multiple endocrine neoplasia type 1 (MEN1), as clinical manifestations of MEN1 are very rare in childhood. DESIGN AND methods: A retrospective review of three cases of Cushing's disease diagnosed between 1997 and 1999. Genetic screening for MEN1 gene mutation was performed in each patient. RESULTS: An ACTH-secreting microadenoma was diagnosed in three children, aged 11-13 years, presenting with growth retardation and weight gain over a period of 3-4 years. All patients had successful transsphenoidal adenomectomies. Primary hyperparathyroidism was subsequently diagnosed in two of the patients, and in the monozygotic twin of one of the patients. A new mutation in the MEN1 gene (Tyr351His) was identified in two of the patients and the affected members of their families. In the third patient a de novo MEN1 gene mutation (Leu444Pro) was found. CONCLUSIONS: MEN1 has to be considered in all children with tumours of the pituitary gland, and in those presenting with primary hyperparathyroidism. The children and their families should be advised to seek genetic counselling. We suggest that careful growth records be kept for children at risk of developing inherited MEN1 and, in the event of a decelerating growth rate, further diagnostic evaluation be undertaken with regards to ACTH-secreting pituitary tumours.- - - - - - - - - - ranking = 798.95177531987keywords = endocrine (Clic here for more details about this article) |
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