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)

A 36-year-old man was admitted to Kanto Chuo Hospital because of hearing loss and dysphagia. On admission physical and neurological findings revealed obesity, hypertension, nystagmus, right hearing loss, dysarthria, and dysphagia. Routine laboratory findings disclosed leukocytosis, liver dysfunction, hypercholesterolemia, proteinuria, and glucosuria. Immunological, coagulopathic, and endocrinological findings, electrocardiogram, echocardiogram, and brain CT scan were unremarkable. He was diagnosed as brainstem infarction, and then conservative therapies were begun. Seven hours after admission, he suddenly fell into coma and apneutic state, requiring artificial ventilation. The next day he was fully conscious, but could'nt make any voluntary movements except for vertical eye movements, suggesting locked-in syndrome (LIS). Brain MRI showed infarction of pons, medulla oblongata, and right cerebellum. Cerebral angiography revealed hypoplasia of bilateral vertebral arteries, a persistence of right primitive trigeminal artery (PTA), and retrograde blood flow of basilar artery from the PTA. Then he made a rapid recovery, and on 80th day he was discharged only with right hearing disturbance and mild left cerebellar sign. We speculated that hypoplasia of the bilateral vertebral arteries caused the brain infarction, and that back flow of the basilar artery from the PTA, in part, contributed to the early recovery from the LIS.
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PMID:[Early recovery from locked-in syndrome due to brain infarction in a young patient with hypoplasia of bilateral vertebral arteries and a persistence of primitive trigeminal artery]. 895 55

Progressing stroke with neurological deterioration (PSND), i.e., neurological deterioration of patients during the first days following a stroke, although not an infrequent event, has hitherto been addressed only by few studies. This is the first investigation conducted in Israel with the aim to determine its prevalence and characteristics. Data regarding 140 patients with first ever stroke were collected prospectively between May 1999 and October 2000. All patients underwent a thorough daily neurological examination over the first 7 days, using the Canadian Neurological Scale. Most (90%), patients had hemiparesis, with dysarthria, aphasia and dysphagia being the most frequent associated neurological deficits. Thirty percent of the patients were on anti-aggregant therapy prior to the stroke. The prevalence of PSND was 23%. The 1-month in-hospital death rate of these PSND patients was 31%. Univariate analysis showed that previous anti-aggregant therapy, Parkinson's disease (PD), obesity, hyperlipidemia, and presence of aphasia were significantly more frequent in the PSND group. In addition, these patients arrived earlier to the emergency room. However, logistic regression analysis showed that only PD and obesity could possibly be considered as predictors for development of PSND. The prevalence as well as the death rate of PSND in this group of Israeli elderly is within the range reported in the literature. However, prior anti-aggregant treatment and PD, are here reported for the first time as associated conditions. Future research will possibly clarify the links between these entities and PSND.
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PMID:Progressing stroke with neurological deterioration in a group of Israeli elderly. 1591 Oct 42

35-year old patient was admitted to the Department of Neurology, Medical University of Bialystok because of paresis of his left upper limb, progressing over last 10 months and right facial nerve paresis, which started a month ago. During neurological examination he presented with right facial and arm paresis, dysarthric speech, obesity and hypertension. The patient was previously hospitalized in regional hospital, where a lumbar puncture was done revealing normal composition of cerebrospinal fluid. His brain CT revealed bilateral hypodensive areas in frontal and parietal regions of vasogenic character. Doppler ultrasound showed significant slowing of blood flow velocity in both internal carotid arteries. Brain angiography presented with very weak contrast filling of intracranial branches of carotid and vertebral arteries and showed stenosis at the terminal portion of the internal carotid arteries and at the proximal portion of the anterior and middle cerebral arteries. The patient had transthoracic and transesophageal echocardiography, Holter ECG, lab tests (routine lab tests plus coagulation system evaluation with C protein resistance test, anticardiolipne antibodies, antinuclear antibodies, anticytoplasmatic antibodies and thyroid hormones) checked--all tests were within normal range. Based on cerebral angiography and clinical symptoms, after excluding any other reasons of cerebral ischemia, the patient was diagnosed with moyamoya disease and arterial hypertension. The patient was treated pharmacologically with improvement--regression of face assymetry and dysarthria and diminishing of his right arm paresis. The authors of this paper pay attention to moyamoya disease as a rare reason of ischemic strokes in the young in our geographic region. They remind moyamoya disease diagnostic criteria, its etiology and treatment.
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PMID:[Moyamoya disease as a cause of ischemic cerebral stroke in young people]. 1744 85

We describe an Egyptian family having SCA2 affecting three generations with marked molecular and clinical anticipation observed in the index case. Our proband was a male child starting as early as 2 years old with progressive extrapyramidal manifestations, slow eye movements and cognitive impairment. A history of nonspecific mild developmental delay was recorded. The patient lost all cognitive functions, had persistent dystonic posture, trophic changes, vasomotor instability, dysphagia and died at the age of 7 years. The age at presentation among other affected family members varied between 11 and 45 years old across three generations. The early common neurological symptoms were choreoathetotic movements, myoclonic jerk, gait difficulty, expressionless face and emotional liability. Later, overt ataxia, incoordination, dysarthria, mild dementia and slow eye saccades predominated. Brisk tendon reflexes were detected in three cases. Peripheral nerve affection was a late manifestation. Interestingly, polyphagia and obesity were striking manifestations in the middle stage of the disease; an observation that might support a previously suggested relation between the ataxin-2 gene and body weight. The proband showed an amplified allele with marked CAG expansion in the form of a smear sized 69-75 repeats resulted from maternal transmission. To our knowledge, our index case is the second report in the literature presenting with infantile onset SCA2 and intermediate repeat expansion. This family expands the phenotypic spectrum of early onset SCA2 and points out the importance of considering SCA2 gene analysis in children with progressive neurological impairment and abnormal movements with or without polyphagia.
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PMID:Spinocerebellar ataxia type 2 (SCA2) in an Egyptian family presenting with polyphagia and marked CAG expansion in infancy. 1829 29

PurposePREPL deficiency causes neonatal hypotonia, ptosis, neonatal feeding difficulties, childhood obesity, xerostomia, and growth hormone deficiency. Different recessive contiguous gene deletion syndromes involving PREPL and a variable combination of SLC3A1 (hypotonia-cystinuria syndrome), CAMKMT (atypical hypotonia-cystinuria syndrome), and PPM1B (2p21 deletion syndrome) have been described. In isolated PREPL deficiency, previously described only once, the absence of cystinuria complicates the diagnosis. Therefore, we developed a PREPL blood assay and further delineated the phenotype.MethodsClinical features of new subjects with PREPL deficiency were recorded. The presence of PREPL in lymphocytes and its reactivity with an activity-based probe were evaluated by western blot.ResultsFive subjects with isolated PREPL deficiency, three with hypotonia-cystinuria syndrome, and two with atypical hypotonia-cystinuria syndrome had nine novel alleles. Their IQs ranged from 64 to 112. Adult neuromuscular signs included ptosis, nasal dysarthria, facial weakness, and variable proximal and neck flexor weakness. Autonomic features are prevalent. PREPL protein and reactivity were absent in lymphocytes from subjects with PREPL deficiency, but normal in the clinically similar Prader-Willi syndrome.ConclusionPREPL deficiency causes neuromuscular, autonomic, cognitive, endocrine, and dysmorphic clinical features. PREPL is not deficient in Prader-Willi syndrome. The novel blood test should facilitate the confirmation of PREPL deficiency.
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PMID:PREPL deficiency: delineation of the phenotype and development of a functional blood assay. 2872 5

Primary angiitis of the central nervous system (PACNS) is a rare disease with various clinical presentations. It is the preferred name for vasculitis that is confined to the central nervous system (CNS) and is often considered a diagnosis of exclusion in vascular or inflammatory CNS diseases. This case describes a 46-year-old right-handed female with a past medical history of hypertension (HTN), hyperlipidemia (HLD), diabetes mellitus type two (DM2), obesity, and hemorrhagic stroke who was transferred from an outside facility after a one-month hospitalization to be evaluated for CNS vasculitis. Emergency medical personnel who brought the patient to the receiving hospital endorsed dysarthria and fluctuating level of cognition. Before she was transferred, the patient underwent a series of computed tomography (CT) and magnetic resonance imaging and angiographies (MRI/MRA) as well as four-vessel angiography. The studies revealed multiple bilateral striatal and cortical infarcts, scattered narrowing and occlusion of major cerebral vasculature, as well as other signs initially more suggestive of intracranial atherosclerosis than CNS vasculitis. Before she was transferred, imaging demonstrated a new cortical stroke. Hypercoagulable studies were positive for protein C deficiency although ensuing echocardiograms with normal ejection fractions were negative for a source of cardioembolism. Having undergone extensive rheumatological, radiological, and neurosurgical evaluation in the receiving facility, recommendations were made for the patient to undergo leptomeningeal biopsy to confirm the diagnosis of vasculopathy and to specifically rule out intracranial atherosclerosis and reversible cerebral vasoconstriction syndrome (RCVS).
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PMID:Intracranial Atherosclerosis Versus Primary Angiitis of the Central Nervous System: a Case Report. 3025 20

Thiamine is an important coenzyme, which is essential for metabolism and maintaining cellular osmotic gradient. Thiamine deficiency can cause focal lactic acidosis, alteration of the blood-brain barrier and the production of free radicals through cell death by necrosis and apoptosis. Wernicke encephalopathy (WE) is a clinical diagnosis. Cytotoxic and vasogenic oedema are the most typical neuroimaging findings of WE, presenting as bilateral symmetrical hyperintense signals on T2-weighted MR images. MRI is not necessary for the diagnosis of WE, but it can be helpful in ruling out alternative diagnosis. We present the case of an 61-year-old man with the history of class II obesity presenting with diplopia, dysarthria and vertigo, confirmed to be non-alcoholic WE. We aim to highlight the occurrence of WE in patients with large bowel resection though. Delay in diagnosis, particularly in obese individuals due to lack of suspicion, can lead to grim prognosis.
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PMID:Non-alcoholic Wernicke encephalopathy: great masquerader. 3059 27