Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0028754 (obesity)
 124,988 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

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

This case report describes the presentation of a patient with Bardet-Biedl syndrome. Bardet-Biedl Syndrome is an autosomal recessive condition that includes retinal dystrophy, dystrophic extremities (commonly polydactyly), obesity, hypogenitalism, and renal disease. Cognitive deficit has also been considered part of the syndrome. The historically associated Laurence-Moon syndrome includes spastic paraparesis but not the obesity and polydactyly. They are now considered separate conditions. The most common feature of Bardet-Biedl syndrome is retinal dystrophy. The appearance of the retina in the condition is quite variable with typical retinitis pigmentosa being present in only a minority of cases. The associated optic atrophy can be primary in nature and might play a role in the decreased central vision. Diagnosis of the condition is important for visual prognosis and low vision management. The renal disease often goes undetected until specific radiological testing is done after diagnosis of Bardet-Biedl syndrome. This is significant in that early death often occurs in this condition because of the renal disease.
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PMID:Bardet-Biedl syndrome. 1083 Dec 13

Symptomatic spinal epidural lipomatosis (SEL) is very rare and frequently associated to chronic exogenous steroid use, obesity and Cushing syndrome. The idiopathic cases where no identifiable association with SEL are found constitute only 17% of all cases. The usual clinical manifestations of this entity consist of dorsal or lumbar pain with paresthesias and weakness in lower limbs, but acute symptoms of myelopathy are exceptional. We report a case of acute paraparesis and urinary retention caused by thoracic SEL in a 55-year-old male who did not have any recognized predisposing factor for this condition. Urgent surgical decompression was performed in order to relieve the symptoms. Slow but progressive improvement was assessed after surgery. We consider this case to be exceptional due to the needing to perform an urgent decompressive laminectomy to treat a rapidly progressive myelopathy caused by idiopathic SEL.
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PMID:Idiopathic spinal epidural lipomatosis: urgent decompression in an atypical case. 1787 11

Symptomatic spinal epidural lipomatosis is a rare disorder characterized by overgrowth of fat in the extradural space. Most patients have an underlying endocrine disorder, such as Cushing's syndrome, or have taken exogenous steroids chronically. Although less common, obesity alone is thought to be a cause of spinal epidural lipomatosis, representing <25% of reported cases. Patients rarely become symptomatic before middle age without chronic exogenous steroid use. The usual clinical manifestations are similar to degenerative lumbar stenosis with neurogenic claudication, resulting in decreased walking and standing endurance with variable neurological deficits.This article describes 2 unique cases of spinal epidural lipomatosis, both in young patients with underlying morbid obesity who presented with acute progressive leg weakness and urinary retention. The patients had no underlying endocrinopathy, nor any history of exogenous steroid use. They underwent emergency laminectomy and removal of epidural fat, and histopathological examination confirmed the diagnosis of epidural lipomatosis. Postoperatively, the patients demonstrated significant improvement.We conducted a review of the available English literature and compared the age distribution in each group. Based on our review, our 2 patients are considerably younger than those in past reports, especially in the patient group to which the steroid was not administered. In addition, few cases exist of spinal epidural lipomatosis with acute sphincter dysfunction and paraparesis. Our cases suggest that morbid obesity can lead to juvenile spinal epidural lipomatosis with acute neurological changes.
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PMID:Symptomatic spinal epidural lipomatosis with severe obesity at a young age. 2166 17

France has recently witnessed a nationwide outbreak of measles. Data on severe forms of measles in adults are lacking. We sought to describe the epidemiologic, clinical, treatment, and prognostic aspects of the disease in adult patients who required admission to an intensive care unit (ICU). We performed a retrospective analysis of a cohort of 36 adults admitted to a total of 64 ICUs throughout France for complications of measles from January 1, 2009, to December 31, 2011. All cases of measles were confirmed by serologic testing and/or reverse transcription polymerase chain reaction.The cohort consisted of 21 male and 15 female patients, with a median age of 29.2 years (25th-75th interquartile range [IQR], 27.2-34.2 yr) and a median Simplified Acute Physiology Score (SAPS II) of 13 (IQR, 9-18). Among the 26 patients whose measles vaccination status was documented, none had received 2 injections. One patient had developed measles during childhood. Underlying comorbid conditions included chronic respiratory disease in 9 patients, immunosuppression in 7 patients, and obesity in 3 patients, while measles affected 5 pregnant women.Respiratory complications induced by measles infection led to ICU admission in 32 cases, and measles-related neurologic complications led to ICU admission in 2 cases. Two patients were admitted due to concurrent respiratory and neurologic complications.Bacterial superinfection of measles-related airway infection was suspected in 28 patients and was documented in 8. Four cases of community-acquired pneumonia, 6 cases of ventilator-associated pneumonia, 1 case of tracheobronchitis, and 2 cases of sinusitis were microbiologically substantiated.Of 11 patients who required mechanical ventilation, 9 developed acute respiratory distress syndrome (ARDS). Among the patients with ARDS, extraalveolar air leak complications occurred in 4 cases. Five patients died, all of whom were severely immunocompromised.On follow-up, 1 patient had severe chronic respiratory failure related to lung fibrosis, and 2 patients had mild lower limb paraparesis along with bladder dysfunction, both of which were ascribable to measles-induced encephalitis and myelitis. Among the 5 pregnant patients, the course of measles infection was uneventful, albeit 1 patient underwent emergent cesarean delivery because of fetal growth restriction.Measles is a disease with protean and potentially deceptive clinical manifestations, especially in the immunocompromised patient. Measles-associated pneumonitis and its complications, and less commonly postinfectious encephalomyelitis, are the main source of morbidity and mortality. In contrast with the usually benign course of the disease in immunocompetent patients, measles occurring in immunocompromised patients gives rise to lethal complications including ARDS, with or without bacterial superinfection. Other patients potentially at high risk for severe measles are young adults and pregnant women. Measles pneumonitis may predispose to air leak disease in patients using mechanical ventilation. To date, vaccination remains the most potent tool to control measles infection.
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PMID:Severe Measles Infection: The Spectrum of Disease in 36 Critically Ill Adult Patients. 2398 57

Bardet-Biedl syndrome (BBS) is a rare, autosomal-recessive, debilitating genetic disorder, which can present with multitudinous systemic clinical features including rod-cone dystrophy, polydactyly, Frohlich-like central obesity, mental retardation, hypogonadism, and renal anomalies. Diverse neuromuscular manifestations in patients afflicted by this heterogeneous disorder include ataxia, cervical, and thoracic canal stenoses, presenting as spastic quadriparesis and other gait disturbances. We report a young patient with BBS, who had presented with acute flaccid paraparesis due to severe primary lumbar canal stenosis. She underwent immediate lumbar decompression and discectomy following which she recovered significantly. Acute cauda equina syndrome due to primary lumbar canal stenosis has not been reported as a clinical feature of BBS previously.
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PMID:Acute flaccid paraparesis (cauda equina syndrome) in a patient with Bardet-Biedl syndrome. 2856 87