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 59-year-old woman with a body mass index of 30 and an edematous, tender goiter was scheduled for subtotal thyroidectomy. She had a history of dyspnea, cough, hoarseness, sleep disturbance in the supine position, difficulty in expelling sputum, and inability to rotate her neck to the left. Chest CT showed an adenomatous goiter, measuring 42 x 57 x 105 mm, with invasion into the mediastinal space, 17 mm right glottic shift, and 21 mm right tracheal shift. Because of her goiter and laryngo-tracheal shift, we anticipated a difficult intubation and ventilation. Awake fiberoptic intubation was selected for anesthesia induction, and was easily performed using a Parker Flex-Tip tracheal tube (Parker Medical, Highland Ranch, Colorado, USA), after intravenous injection of 200 microg of fentanyl, 8% lidocaine pump spray on the larynx with a direct laryngoscope, and 5 ml of 4% lidocaine spray on the vocal cords and trachea through a bronchoscope. The operation was completed successfully without any adverse events. Awake fiberoptic intubation with a Parker Flex-Tip tracheal tube is easily performed in a patient with a difficult airway due to obesity, goiter, and laryngo-tracheal shift.
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PMID:[Awake fiberoptic intubation with Parker Flex-Tip tracheal tube in a patient with obesity, goiter, and laryngo-tracheal shift]. 2056 Mar 76

Subclinical hypothyroidism (SCH), defined by a normal total or free T4 level and a mildly elevated TSH (typically 5-10 mU/L), is common in children, but there is currently no consensus on management. Several recent pediatric studies indicate that progression of SCH to overt hypothyroidism (OH) is uncommon and that over a period of several years, elevated TSH usually either normalizes or persists but does not increase. The etiology appears to be multifactorial, with some cases representing minor developmental abnormalities, some related to obesity, some to mild autoimmune thyroiditis, and some associated with mutations in the gene for the TSH-receptor. There are no pediatric studies showing clinical benefit of treating these children with thyroid hormone, but additional studies in this area are needed. Since few cases of pediatric SCH progress to OH, treatment can be deferred, and periodic follow-up testing may be the preferred strategy, with elevated thyroid antibodies or a goiter being considered risk factors for eventual OH.
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PMID:Subclinical hypothyroidism in children: normal variation or sign of a failing thyroid gland? 2062 88

During the past decade, endoscopic video-assisted parathyroidectomy (EP) for primary hyper parathyroidism (PHPT) has gained wider acceptance. The endoscopic gasless procedure described by P. Miccoli (1997-1998) offers an attractive technique. A routine preoperative localization study was performed with both ultrasonography and 99m TC-Sestamibi scintigraphy for each patient with sporadic PHPT. The criteria to select patients eligible for EP included absence of significant nodular goiter, a previous neck surgery, a need for concomitant thyroidectomy, a significant obesity, and multiple enlarged parathyroid glands. The surgical outcome and the use of preoperative localization together with the operative strategy were evaluated. From 2005 to 2009, 59 out of 75 patients (78%) were potentially candidates for this approach. An enlarged parathyroid gland was located by both types of imaging for 34 patients (57%) and by 99 m Tc-Sestamibi scintigraphy for 46 patients (77%). Conversion was required in 11 cases (18%). Nine patients had a negative preoperative imaging study and five underwent a successful EP. The operating time ranged from 35 to 120 min (median 45 min). Usually patients were discharged home at 48 h. There were no cases of permanent hypocalcemia or recurrent laryngeal nerve palsy. Postoperative review showed that all calcium and parathyroid hormone levels remained normal at 3 months except for 1 patient with a double adenoma. EP is a quick, safe, and effective procedure in a selected group of patients. Our results show that this technique can be easily introduced into a general head and neck practice.
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PMID:Endoscopic parathyroidectomy in primary hyperparathyroidism. 2104 11

Family and twin studies suggest a genetic predisposition for euthyroid goiters. However, iodine deficiency and smoking are important exogenous factors for goiter development. We investigated goiter predisposition by a matched case control study in a region with recently documented low normal iodine supply. A sum of 376 patients were included in the study. We matched 188 patients with euthyroid/subclinically hyperthyroid goiter (TSH 4.20-0.05 mU/l) with 188 euthyroid controls without thyroid enlargement for age and gender. Thyroid ultrasound was performed in all patients, whereby 50.5% of patients with goiters showed a positive family history for goiter. In contrast, only 25% of control patients had a positive family history (p<0.001; OR=3.1). Patients with goiters had a significantly higher proportion of parents (p<0.001; OR=3.6) or siblings (p=0.004; OR=2.5) with goiters. Children of parents with goiters showed a 2.7-fold increased risk for goiter development (goiter prevalence 73.3%). Patients with a positive goiter family history had a 4.1-fold increased goiter risk (p<0.001). The contribution of smoking, obesity, and pregnancies to goiter development was less important than the genetic predisposition (OR=1.7; p=0.06; OR=1.67; p=0.13; OR=0.8; p=0.56). In a region with low normal iodine supply, the significantly higher rate of positive family histories in patients with goiters as compared to the matched controls as well as the increased goiter prevalence in children of parents with goiters indicate the importance of genetic factors in goiter development.
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PMID:Evidence for a more pronounced effect of genetic predisposition than environmental factors on goitrogenesis by a case control study in an area with low normal iodine supply. 2141 89

A 56-year-old white man presented with a lesion on the right shoulder. The lesion developed during a short period and recently became irritated with occasional bleeding and mild pruritus. The patient denied pain. Medical history included melanoma, nonmelanoma skin cancer, diabetes mellitus type II, hyperlipidemia, multinodular thyroid goiter, and obesity. Medications and family and social history were noncontributory. Review of systems was negative. Examination revealed a slightly raised, friable yellow-pink waxy plaque located on the right shoulder (Figure 1). There was no evidence of excoriation, secondary infection, drainage, scale, crust, atrophy, lichenification, or telangiectasia. The patient had no mucosal or nail changes and the remainder of his skin examination was normal. A shave biopsy on the right shoulder revealed a nodular deposit of homogenous eosinophilic material associated with extravasated erythrocytes within the dermis. An infiltrate of lymphocytes and plasma cells was associated with the deposits. Immunohistochemical stains revealed positive plasma cells with kappa light chain and negative with lambda light chain. Congo red stain was positive and supported the diagnosis. The findings were consistent with nodular cutaneous amyloidosis (NCA) of the amyloid light-type. Initial work-up included referrals to hematology/oncology and to general surgery. The patient had a complete blood cell count (CBC), complete metabolic profile (CMP), serum protein electrophoresis (S-PEP), urine protein electrophoresis (U-PEP), 24-hour urine creatinine clearance, and protein, serum immunoglobulins and 132 microglobulin. These were all within normal limits. Abdominal/pelvic computed tomography and positron emission tomography scan also were within normal limits. Bone marrow biopsy showed no abnormalities. The patient underwent both an abdominal fat pad biopsy as well as a colonoscopy with rectal biopsy. Both were negative for amyloidosis. Initially, the patient's cutaneous amyloidosis remained localized and mild pruritus was controlled with low potency topical steroids. The patient was closely monitored by hematology/oncology and general surgery on a biannual basis to assess the possibility of progression to systemic amyloidosis. Over the course of the subsequent two years, the patient developed multiple similar lesions across the back, shoulders, and chest, which were biopsied and found to be consistent with NCA. Progression of the cutaneous nodules led to disfiguring, painful, and friable pink to yellow waxy papules coalescing into plaques with obvious hemorrhage diffusely over the trunk (Figure 2). In lieu of the painful and disfiguring progression of disease, the patient desired a more aggressive treatment plan. At present, the treatment option recommended to the patient is carbon dioxide laser ablation. Hematology/oncology recommendation consists of a general systemic amyloid reevaluation annually, including CBC, CMP, S-PEP, U-PEP, 24-hour urine collection with creatinine clearance, and history and physical examination.
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PMID:Nodular cutaneous amyloidosis. 2216 48

A total of 120 children at the age of 10-15 years presenting with class I-II obesity were available for observation. Fifty two of them suffered diffuse non-toxic goiter. The combination of obesity and diffuse non-toxic goiter was associated with excessive body weight, insulin resistance, disturbances of lipid metabolism, and impaired tolerance of physical exercises. Differential therapeutic complexes have been proposed for the treatment of the children with diffuse nontoxic goiter. Their application was shown to induce positive dynamics of clinical conditions and laboratory characteristics of the patients.
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PMID:[Peculiar features of the clinical and metabolic status and its variations under the influence of rehabilitative treatment in the children with obesity and diffuse non-toxic goiter]. 2269 39

An 85-year-old lady presented with a large midline neck mass. After 8 years of steady growth, the previously asymptomatic mass began to cause stridor and dysphagia. The patient's comorbidities included a previous partial glossectomy for haemangioma of the tongue, chronic obstructive pulmonary disease, congestive cardiac failure and obesity (body mass index >30). CT neck revealed the midline mass was cystic in nature, most likely a thyroglossal duct cyst. This mass was closely related to an angiomatous malformation involving the tongue, floor of mouth and left parotid. Fine needle aspiration cytology was consistent with a colloid goitre characterised as Thy-1. Due to her extensive comorbidities, surgical resection of the midline mass was deemed to be a high-risk procedure. A Sistrunk's procedure was performed. Dissection proved difficult due to the intimately related base of tongue haemangioma. Histopathology confirmed it to be a benign thyroglossal duct cyst. She made an uncomplicated postoperative recovery.
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PMID:A rare case of a concurrent large thyroglossal duct cyst with a base of tongue haemangioma. 2270 48

During 2002-2011, among active component U.S. military members, the rates of idiopathic hypothyroidism were 39.7 and 7.8 per 10,000 person-years among females and males, respectively. Unadjusted rates of idiopathic hypothyroidism and chronic thyroiditis (e.g., Hashimoto's disease) were at least twice as high among white, non-Hispanic as black, non-Hispanic service members. However, black, non-Hispanic service members had higher rates of goiter and thyrotoxicosis. Increasing rates of thyroid disorders during the period were accompanied by increases in numbers of screening tests for thyroid function recorded during outpatient visits. Increased thyroid function testing since the beginning of the wars in Iraq and Afghanistan may reflect increased testing of military members with mental disorders (e.g., depression, irritability, PTSD), musculoskeletal pain, sleep disorders, menstrual/fertility abnormalities, obesity, and other conditions which have sharply increased in prevalence over the same period.
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PMID:Thyroid disorders among active component military members, U.S. Armed Forces, 2002-2011. 2312 Oct 6

In the past, food fortification along with nutritional education and the decrease in food costs relative to income have proven successful in eliminating common nutritional deficiencies. These deficiencies such as goiter, rickets, beriberi, and pellagra have been replaced with an entirely new set of "emergent deficiencies" that were not previously considered a problem [e.g., folate and neural tube defects (NTDs)]. In addition, the different nutrition surveys in so-called affluent countries have identified "shortfalls" of nutrients specific to various age groups and/or physiological status. Complex, multiple-etiology diseases, such as atherosclerosis, diabetes, cancer, and obesity have emerged. Food fortification has proven an effective tool for tackling nutritional deficiencies in populations; but today a more reasonable approach is to use food fortification as a means to support but not replace dietary improvement strategies (i. e. nutritional education campaigns). Folic acid (FA) is a potential relevant factor in the prevention of a number of pathologies. The evidence linking FA to NTD prevention led to the introduction of public health strategies to increase folate intakes: pharmacological supplementation, mandatory or voluntary fortification of staple foods with FA, and the advice to increase the intake of folate-rich foods. It is quite contradictory to observe that, regardless of these findings, there is only limited information on food folate and FA content. Data in Food Composition Tables and Databases are scarce or incomplete. Fortification of staple foods with FA has added difficulty to this task. Globally, the decision to fortify products is left up to individual food manufacturers. Voluntary fortification is a common practice in many countries. Therefore, the "worldwide map of vitamin fortification" may be analyzed. It is important to examine if fortification today really answers to vitamin requirements at different ages and/or physiological states. The real impact of vitamin fortification on some key biomarkers is also discussed. An important question also to be addressed: how much is too much? It is becoming more evident that chronic excessive intakes may be harmful and a wide margin of safety seems to be a mandatory practice in dietary recommendations. Finally, the "risk/benefit" dilemma is also considered in the "new" FA-fortified world.
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PMID:Efficacy of adding folic acid to foods. 2325 98

The orchestrated organization of epigenetic factors that control chromatin dynamism, including DNA methylation, histone marks, non-coding RNAs (ncRNAs) and chromatin-remodeling proteins, is essential for the proper function of tissue homeostasis, cell identity and development. Indeed, deregulation of epigenetic profiles has been described in several human pathologies, including complex diseases (such as cancer, cardiovascular and neurological diseases), metabolic pathologies (type 2 diabetes and obesity) and imprinting disorders. Over the last decade it has become increasingly clear that mutations of genes involved in epigenetic mechanism, such as DNA methyltransferases, methyl-binding domain proteins, histone deacetylases, histone methylases and members of the SWI/SNF family of chromatin remodelers are linked to human disorders, including Immunodeficiency Centromeric instability Facial syndrome 1, Rett syndrome, Rubinstein-Taybi syndrome, Sotos syndrome or alpha-thalassemia/mental retardation X-linked syndrome, among others. As new members of the epigenetic machinery are described, the number of human syndromes associated with epigenetic alterations increases. As recent examples, mutations of histone demethylases and members of the non-coding RNA machinery have recently been associated with Kabuki syndrome, Claes-Jensen X-linked mental retardation syndrome and Goiter syndrome. In this review, we describe the variety of germline mutations of epigenetic modifiers that are known to be associated with human disorders, and discuss the therapeutic potential of epigenetic drugs as palliative care strategies in the treatment of such disorders.
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PMID:Genetic syndromes caused by mutations in epigenetic genes. 2337 May 4


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