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 seven-year-old male Border Collie was presented with a history of lethargy, episodic circling, incoordination and polydypsia. Physical examination revealed depression, obesity and bradycardia. A neurological examination indicated the possible presence of a space-occupying lesion in the brain. Results of the clinical investigation revealed hyposthenuria, sinus bradycardia and increased concentration of protein in the cerebrospinal fluid. A computerised axial tomography scan revealed a mass in the region of the hypophysis. The dog was euthanased and a post mortem examination confirmed the presence of a craniopharyngioma.
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PMID:A craniopharyngioma in a seven-year-old dog. 194 90

Two unrelated females, age 15 and 5 years respectively, were studied cytogenetically because of severe mental retardation, seizures and ataxia-like incoordination. A similar deletion of the proximal long arm of chromosome 15 was found in both patients. Re-evaluation showed no voracious appetite or obesity; normal size of hands and feet, minimal to no hypotonia by history or examination and facial features not typical of the Prader-Willi syndrome. However, the facial appearance of the girls was similar to each other with mild hypertelorism. The similarity of these girls and dissimilarity to Prader-Willi syndrome suggest a different syndrome, perhaps the result of deletion of a different segment of 15q. The findings of ataxic-like movements, frequent, unprovoked and prolonged bouts of laughter and facial appearance are more compatible with the diagnosis of Angelman syndrome.
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PMID:Is Angelman syndrome an alternate result of del(15)(q11q13)? 368 21

After reviewing the size of the problem of multiple sclerosis, and the likely case-load for doctors in different settings, this paper than proceeds to consider the major challenges in management and rehabilitation for this disease. The latter resolve themselves into what to discuss with the patient; relapses and their prevention, including general advice on such matters as stress, pregnancy, and infection; major problems including bladder and bowel dysfunction, sexual difficulties, spasticity, ataxia and incoordination, vision, and intellectual and psychological manifestations, and other problems, such as menstruation, obesity, and pressure sores. The paper concludes with a discussion of the role of specialist physicians.
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PMID:Multiple sclerosis--management and rehabilitation. 720 3

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

During the next decade, a rapid increase in the number of new cancer diagnoses in the population as well as a growing number of cancer survivors can be expected. Cancer is anticipated to exceed cardiovascular disease as the primary cause of mortality in the United States population. Despite efforts in tobacco control, the aging of the population and obesity epidemic will contribute toward the increasing incidence of cancer. Although oncology specialists will continue to play a critical role in the diagnosis and initial treatment of patients with cancer, primary care providers will need to play an expanding role in the early detection of cancer, as well as the follow-up, health promotion, and cancer surveillance that will be necessary after initial cancer treatment. Oncology specialists will need to do a better job coordinating the care of their patients with primary care providers, and work toward a shared care model that will optimize the quality of care delivered by the health care system. Cancer treatment summaries and survivorship care plans are an initial attempt to address the current fragmentation and lack of coordination in care that exist today. Cancer survivors are at risk for a wide range of late effects after their primary cancer treatment. Unfortunately, there is limited information about the exact incidence and prevalence of many physical late effects. For example, how many women given standard adjuvant chemotherapy with doxorubicin and cyclophosphamide for breast cancer at age 35 years will develop permanent amenorrhea after treatment, and be infertile? What is the excess risk of osteoporosis in a 70-year-old man receiving endocrine therapy for prostate cancer? What is the risk of coronary artery disease after mantle irradiation for Hodgkin lymphoma? Because of the limited database for many of these sequelae of treatment, clinicians have to keep all of these potential risks in mind as they interview a survivor, and develop a long-term management plan that focuses on symptomatic management and future chronic disease prevention. Until one has a better sense of the natural history of these late sequelae, as well as better information about who is at risk, focusing on a taking a cancer survivor-directed medical history may be the best detection tool that is available. Drawing on a shared care model, primary care providers should collaborate with oncology specialists to determine if cancer-specific laboratory and radiographic studies are indicated to determine if the patient has a cancer treatment-related late effect or cancer recurrence. Health promotion and aggressive management of comorbid conditions should be a standard of care for cancer survivors, as with other patients in the primary care practice. With the growing number of cancer survivors, as well as the recommendations of the IOM report directing research and policy on this subject (see Box 1), it is hoped that in the future a better evidence base to direct health care management in cancer survivors will be built up.
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PMID:Survivorship: adult cancer survivors. 1991 84