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Query: UMLS:C0028754 (obesity)
 124,988 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The author has investigated grossly and microscopically 12 cases (5 males and 7 females) of dissecting aneurysm in individuals under 40 years of age, autopsied during the last 6 years at the Tokyo-to Medical Examiner Office. They composed of 6 cases of Marfan's syndrome, 3 cases of obesity, and one case each of pregnancy, aortitis syndrome, and male pseudohermaphroditism, respectively. The 6 cases other than Marfan's syndrome were also thought to belong to the Marfan group from the gross and microscopic examinations of the aorta. As to the cases of dissecting bleeding of the aorta, Erdheim's idiopathic cystic medial necrosis was as a rule authentical up to date, but the author has never observed the bleeding within the cysts which were said to be formed due to accumulation of metachromatic ground substance. On the contrary, the medial bleeding occurred always in the weakened area in where the elastic fibers were disrupted and disappeared accompanying with the diminution of metachromatic substance. The author assumed that the diminution of metachromatic substance might be the most important etiologic factor of dissecting bleeding of the media and the extension of dissection might occur along such weakened foci of the media.
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PMID:A pathological study of dissecting aneurysm in individuals under forty years of age including a case of a 13 years old boy. 67 47

Authors present a girl without familiar antecedents of consanguinity with mild motor deficiency, hypotonicity and obesity during infancy, with progressive posterior healing. The girl did not present Marfan's habit or special phenotype, and had small hypertrophy of calfs. There was not recurrent respiratory infections. EMG was myopathic and muscle dependent seric enzymes (CPK, ALD, LDH...) were normal. Radiographically films showed increased relationship fat-muscle and pathology by MO and ME confirmed the presence of small sticks in muscle fibers. After evaluating the case as a neomutation, the genetic counseling is made.
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PMID:[Nemaline myopathy: apropos of a case]. 652 40

During the past 2.5 years, 50 Ross operations have been performed at Rigshospitalet in Copenhagen in a broad range of patients with aortic valve disease including children and adults from 6 weeks to 71 years of age. Many patients had complicating conditions including endocarditis (n = 13, eight native, five prosthetic valve), prosthetic valve dysfunction (n = 4), subvalvular obstruction (n = 3) treated by septal myectomy (n = 1) or modified Konno operation (n = 2), ascending aortic aneurysm (n = 2), ventricular septum defect (n = 1), mitral valve disease (n = 6), rheumatic heart disease (n = 4), coronary artery disease (n = 1), and extreme obesity (n = 1). All operations were performed as free-standing total aortic root replacements. The results have been encouraging with low mortality (2%) and no major morbidity. One patient has been reoperated because of autograft insufficiency due to left coronary cusp prolapse and two additional patients have grade 2 autograft insufficiency and are being followed closely. Two patients have developed early pulmonary homograft stenosis, which has required pulmonary homograft replacement. Despite these problems, we are enthusiastic about this operation and believe it may emerge as operation of choice for most patients under 60-65 years of age with aortic valve disease and for patients with prosthetic or advanced native aortic valve endocarditis. With increasing frequency, our choice has been to proceed with a Ross operation, and currently, our only absolute contraindication is Marfan's syndrome. Based on reported recurrent disease in patients with rheumatic valve disease, the autograft should be used with caution for this indication.(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:Expanding indications for the Ross operation. 758 41

Snoring and obstructive sleep apnea are a frequent problem not only in adults, but also in children and adolescents, as can be seen from current epidemiological data. The epidemiology, etiology, diagnosis, and management of obstructive sleep apnea syndrome (OSAS) in adults have been adequately established on the basis of evidential data. As a result of this, both physicians and the public are increasingly aware of OSAS in adults. Although there are numerous parallels between pediatric and adult OSAS, the situation in children differs that in adults. There is a greater variety of symptoms in children with OSAS, diagnosis is often more difficult with serious consequences for growth and development of children. Treatment of OSAS in children is also different from that of the adult patient. There are many possible causes for the development of obstructive sleep apnea in children. These include hypertrophy of the tonsils and syndromes such as Down syndrome, Pickwickian syndrome, Prader-Willi syndrome or Marfan syndrome. OSAS can, however, also be the result of obesity, midfacial dysplasia, retro- or micrognathia, allergic rhinitis or muscular dystrophy. Epidemiological data presented in the literature concerning the incidence of OSAS in children is extremely varied. This wide range is probably due to the fact that snoring may be misdiagnosed as OSAS. The diagnosis of OSAS in children may only be made by considering clinical history (such as rate of growth, tendency to fall asleep during the day, sleep disturbances, susceptibility to infection, etc.), polysomnography (if possible during several nights) and accompanying instrumental diagnosis including cephalometry or laryngoscopy. One of the problems of polysomnography in childhood is that performance and interpretation of the results have not yet been standardized or evaluated for different age groups. Treatment depends on the cause of OSAS and require multidisciplinary management involving the pediatrician, pediatric or adolescent psychiatrist, ear, nose, and throat specialist, maxillofacial surgeons, and neurosurgeons. Adenotonsillectomy (ATE) is the therapy generally chosen if the child has adenoidal vegetations and/or tonsillar hypertrophy. Corrective surgery is possible for rare malformation syndromes. Nocturnal masks for continuous positive airway nasal pressure or procedures for mask respiration are effective in children, but are only used in exceptional cases, such as when ATE is contraindicated or when symptoms of OSAS remain after surgery. The success of pharmacological treatment of OSAS in children has not been evaluated in controlled clinical trials.
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PMID:Obstructive sleep apnea syndrome in children: a state-of-the-art review. 1518 12

To determine if tumor necrosis factor alpha (TNF-alpha) and interleukin-6 (IL-6). IL-6 gene expression is influenced by amount and source of dietary fat, 30 weanling female rats were randomly assigned to a moderate-fat soybean oil (MFS; 22% of total energy fed as fat), high-fat (HF) soybean oil (HFS; 39% of total energy fed as fat), or HF tallow (HFT; 39% of total energy fed as fat) diet treatments. Oral glucose tolerance tests (OGTT) were conducted serially over 10 weeks of treatment. HFT and HFS rats gained more weight and had greater body fat than the MFS rats fed similar amounts of energy. Both groups of HF-fed rats had greater (P<.05) insulin resistance (homeostasis model assessment) than MFS-fed rats. TNF-alpha mRNA abundance quantified by real-time reverse transcriptase-polymerase chain reaction was greater (P<.05) in liver and lower (P<.05) in adipose tissue in HFT compared to HFS and MFS rats. There were positive correlations (P<.05) between hepatic TNF-alpha mRNA and insulin resistance, and negative correlations between insulin sensitivity and hepatic TNF-alpha mRNA and hepatic IL-6 mRNA. During Week 3 and Week 6 OGTTs, hyperinsulinemic responses were observed in the HFT group, after which, on Week 9, insulin secretion was diminished in response to the OGTT, suggesting impaired pancreatic insulin secretion. HFS rats exhibited insulin resistance on Week 9 OGTT. In summary, an HFT diet fed to growing female rats caused insulin resistance associated with increased hepatic TNF-alpha mRNA leading to pancreatic insufficiency. Early-onset insulin resistance related to the inflammatory process in obesity is influenced by the amount and type of fat in the diet.
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PMID:High-fat diets promote insulin resistance through cytokine gene expression in growing female rats. 1790 44

Reduced bone mineral density (BMD) was sporadically reported in patients with Marfan syndrome. This may or may not place the Marfan patient at increased risk for bone fracture. In comparing the BMDs of our patients with those reported in the literature, it seemed that agreement between values, and hence the degree of osteoporosis or osteopenia reported, was dependent on the instrumentation used. The objective of this study was to statistically assess this impression. Bone mineral density measurements from our previously published study of 30 adults with Marfan syndrome performed on a Lunar DPXL machine were compared with studies published between 1993-2000 measured using either Lunar or Hologic bone densitometry instruments. The differences of our measurements compared with those made on other Lunar machines were not statistically significant, but did differ significantly with published results from Hologic machines (P < 0.001). Before progress can be made in the assessment of BMD and fracture risk in Marfan patients and in the evidence-based orthopedic management of these patients, standardization of instrumental bone density determinations will be required along with considerations of height, obesity, age, and sex.
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PMID:Bone mineral density determinations by dual-energy x-ray absorptiometry in the management of patients with Marfan syndrome--some factors which affect the measurement. 1875 76

As a consequence of the rising global prevalence and magnitude of obesity, a greater proportion of patients presenting for cardiac surgery is morbidly obese. Being overweight (body mass index; BMI 25-29.9 kg/m(2)) or obese (BMI 30-35 kg/m(2)) appears to confer some survival benefit following cardiac surgery. By contrast, morbid obesity (BMI >40 kg/m(2)) is associated with an increased likelihood of postoperative complications and prolonged intensive care unit and hospital length of stay. The physical difficulties encountered when managing this group of patients is exemplified by those undergoing complex, multiple procedures requiring prolonged cardiopulmonary bypass (CPB) and deep hypothermic circulatory arrest (DHCA). We present the successful management of a massively obese 19-year-old male (BMI 45 kg/m(2)) with Marfan's syndrome who required aortic root and arch replacement under DHCA. The selection of extracorporeal circuit components to accommodate a large circulating volume and permit high CPB flow rates (>9 l/min) is discussed.
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PMID:Cardiopulmonary bypass and deep hypothermic circulatory arrest in a massively obese patient. 1918 58

We report the case of a 50-year-old man admitted for cardiac tamponade. He was diagnosed with acute pneumonia. He had no previous medical history, but exhibited a body mass index of 41. Two days before admission, he complained of chest pain irradiating to the neck lateral side. Massive cardiac tamponade developed over 48 hours. There was no obvious cause for immunodepression. Pericardial puncture was ineffective, due to obesity and fluid high viscosity. Surgery was undertaken (Marfan intervention). Pericardial fluid was found to be purulent; direct examination revealed nocardia as bacteria with typical filamentous, branching rods. Despite adapted antibiotic treatment the patient died within a few hours. Acute pericarditis due to Nocardia is discussed.
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PMID:Fatal systemic nocardia infection revealed by cardiac tamponade. 2007 77

The spectrum of adipose tissue diseases ranges from obesity to lipodystrophy, and is accompanied by insulin resistance syndrome, which promotes the occurrence of type 2 diabetes, dyslipidemia and cardiovascular complications. Lipodystrophy refers to a group of rare diseases characterized by the generalized or partial absence of adipose tissue, and occurs with or without hypertrophy of adipose tissue in other sites. They are classified as being familial or acquired, and generalized or partial. The genetically determined partial forms usually occur as Dunnigan syndrome, which is a type of laminopathy that can also manifest as muscle, cardiac, neuropathic or progeroid involvement. Gene mutations encoding for PPAR-gamma, Akt2, CIDEC, perilipin and the ZMPSTE 24 enzyme are much more rare. The genetically determined generalized forms are also very rare and are linked to mutations of seipin AGPAT2, FBN1, which is accompanied by Marfan syndrome, or of BANF1, which is characterized by a progeroid syndrome without insulin resistance and with early bone complications. Glycosylation disorders are sometimes involved. Some genetically determined forms have recently been found to be due to autoinflammatory syndromes linked to a proteasome anomaly (PSMB8). They result in a lipodystrophy syndrome that occurs secondarily with fever, dermatosis and panniculitis. Then there are forms that are considered to be acquired. They may be iatrogenic (protease inhibitors in HIV patients, glucocorticosteroids, insulin, graft-versus-host disease, etc.), related to an immune system disease (sequelae of dermatopolymyositis, autoimmune polyendocrine syndromes, particularly associated with type 1 diabetes, Barraquer-Simons and Lawrence syndromes), which are promoted by anomalies of the complement system. Finally, lipomatosis is currently classified as a painful form (adiposis dolorosa or Dercum's disease) or benign symmetric multiple form, also known as Launois-Bensaude syndrome or Madelung's disease, which are sometimes related to mitochondrial DNA mutations, but are usually promoted by alcohol. In addition to the medical management of metabolic syndrome and the sometimes surgical treatment of lipodystrophy, recombinant leptin provides hope for genetically determined lipodystrophy syndromes, whereas modifications in antiretroviral treatment and tesamorelin, a GHRH analog, is effective in the metabolic syndrome of HIV patients. Other therapeutic options will undoubtedly be developed, dependent on pathophysiological advances, which today tend to classify genetically determined lipodystrophy as being related to laminopathy or to lipid droplet disorders.
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PMID:How to diagnose a lipodystrophy syndrome. 2274 2

There are a number of reports of interstitial deletions of the long arm of chromosome 6 that have developmental delay and obesity suggesting that this is a distinct phenotype almost like Prader-Willi syndrome. Here we report a patient with a similar deletion but a strikingly different phenotype, one more in keeping with Marfan syndrome, although he does not fulfil the criteria for that syndrome. Array comparative genomic hybridization was performed to investigate a patient with a striking phenotype. This revealed an interstitial deletion of 6q14.1q15. Parental FISH studies were normal, indicating that this is a de novo deletion. Our patient has a completely different phenotype compared to other patients reported to have similar deletions. The common feature is developmental delay, but the body features are quite different in that our patient is tall, strikingly thin with pectus excavatum, scoliosis, skin striae, arachnodactyly, pes planus, cataracts, and a high-arched palate. This contrasts with other patients who have a similar deletion but have short stature and obesity. 6q14.1q15 interstitial deletions can have a very variable phenotype and do not necessarily conform to a clinical recognizable microdeletion syndrome caused by haploinsufficiency of dosage-sensitive genes in that region as proposed by others.
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PMID:Interstitial deletions at 6q14.1q15 associated with developmental delay and a marfanoid phenotype. 2416 63


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