973 resultados para Congenital hypothyroidism


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Although the safety of applying omentum to the female breast for total breast reconstruction is controversial, it has recently been used to treat certain mammary disorders as well. A systematic review was therefore conducted to analyze and establish the suitability and safety of applying omentum to the breast. Covereing the interval from January 1984 to December 2013, we performed searches in MEDLINE, Embase, SciELO, and Google-Scholar for original articles describing the applicability of greater omentum to the breast and its clinical complications. Sixty observational articles with 985 women were chosen. The main clinical indications were total breast reconstruction after mastectomy due to breast cancer (45 studies), radiation damage (23 studies), and congenital Poland syndrome (4 studies). Altogether, 273 complications were identified among the 985 women treated. The most frequent was flap necrosis (26.74 %). The most serious was injury to the digestive system (1.10 %). There was a 35.48 % incidence of local breast cancer recurrence in eight observational studies on oncological risk. Seven of the eight included only women with advanced cancer. One of these studies reported the incidence and relapse time predominantly according to the primary tumor size. Although the oncological risk remains unclear, there was a high volume of complications that affected the digestive system. These findings suggest that omentum has well established applicability, but only for total breast reconstruction of huge defects, where muscular/myocutaneous or perforator flaps may be unsuitable.

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Lingual thyroid gland is a rare clinical entity. The presence of an ectopic thyroid gland located at the base of the tongue may be presented with symptoms like dysphagia, dysphonia, and upper airway obstruction. We are introducing a case of an 8-year-old girl who had lingual thyroid that presented dysphagia and foreign body sensation in the throat. The diagnostic was reached with clinical examination, thyroid scintigraphy with Tc(99m) and ultrasound. A laryngoscopy was performed which confirmed a spherical mass at base of tongue. Investigation should include thyroid function tests. In this case we observed subclinical hypothyroidism. There are different types of surgical approaches for the treatment of this condition; however, the treatment with Levothyroxine Sodium allowed the stabilization of TSH levels and clinical improvement of symptoms in a follow-up of 2 years.

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Polycystic ovary syndrome (PCOS) has been associated with an autoimmune origin, either per se or favoring the onset of autoimmune diseases, from a stimulatory action on the inflammatory response. Thus, autoimmune thyroiditis (AIT) could be more prevalent among women with PCOS. To evaluate the prevalence of AIT in women with PCOS. It was a cross-sectional study, in a tertiary center, including 65 women with PCOS and 65 women without this condition. Clinical and laboratory parameters were evaluated and a thyroid ultrasound scan was performed. Levels of thyroid-stimulating hormone (TSH), free thyroxine (FT4), free triiodothyronine (FT3), anti-thyroid peroxidase (anti-TPO) antibodies, anti-thyroglobulin (anti-TG) antibodies, and thyroid ultrasound findings were evaluated. The prevalence of subclinical hypothyroidism (SCH) in women with PCOS was 16.9% and 6.2% in the non-PCOS group. AIT was more common in the PCOS group compared with the non-PCOS group (43.1% versus 26.2%). But, when it was adjusted by weight and insulin resistance, the difference in the thyroiditis risk was not observed (OR 0.78, CI 0.28-2.16). AIT risk was similar in the PCOS and the non-PCOS group. SCH are more common in women with PCOS, highlighting a need for periodic monitoring of thyroid function.

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Fibrodysplasia ossificans progressiva is a rare genetic disease characterized by widespread soft tissue ossification and congenital stigmata of the extremities. We report on a male child followed for ten years since the age of 3 years and 9 months, when the diagnosis was made. He was born with bilateral hypoplasic hallux valgus and ventricular septal defect, corrected by transsternal approach when 32 months old. Restriction of neck mobility followed and foci of ectopic ossification appeared. Four crises of disease exacerbation were treated with oral prednisone and/or other antiinflammatory drugs. Sodium etidronate 5 to 10 mg/kg/day was prescribed intermittently during about six years but was discontinued due to osteopenia. The disease course has been relentless, with severe movement restriction including the chest wall. A review showed few similar case reports in the Brazilian literature. We revisit the criteria for diagnosis and the essentials of management and treatment.

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From November 1982 to May 1999, 28 children with Rett syndrome were followed-up for a medium period of 6 years and 2 months. Regression of developmental milestones started at the age between 5 and 20 months. Nineteen cases of typical Rett syndrome had uneventful pre and perinatal periods, loss of previously acquired purposeful hand skills, mental and motor regression and developed hand stereotypies; sixteen had head growth deceleration and 12 gait apraxia. Nine patients were atypical cases, 2 formes frustres, 2 congenital, 3 with early seizure onset, 1 preserved speech and 1 male. Epilepsy was present in 21 patients, predominantly partial seizures and the drug of choise was carbamazepine (15 patients). In the initial evaluation most patients were distributed on Stages II and III and on follow-up on Stages III and IV. Three children died.

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Deficiency of the enzyme P450 oxidoreductase is a rare form of congenital adrenal hyperplasia with characteristics of combined and partial impairments in steroidogenic enzyme activities, as P450 oxidoreductase transfers electrons to CYP21A2, CYP17A1, and CYP19A1. It results in disorders of sex development and skeletal malformations similar to Antley-Bixley syndrome. We report the case of a 9-year-old girl who was born with virilized genitalia (Prader stage V), absence of palpable gonads, 46,XX karyotype, and hypergonadotropic hypogonadism. During the first year of life, ovarian cyst, partial adrenal insufficiency, and osteoarticular changes, such as mild craniosynostosis, carpal and tarsal synostosis, and limited forearm pronosupination were observed. Her mother presented severe virilization during pregnancy. The molecular analysis of P450 oxidoreductase gene revealed compound heterozygosis for the nonsense p.Arg223*, and the novel missense p.Met408Lys, inherited from the father and the mother, respectively. Arq Bras Endocrinol Metab. 2012;56(8):578-85

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INTRODUCTION: Subclinical hypothyroidism (SCH), defined as elevated concentrations of thyroid stimulating hormone (TSH) despite normal levels of thyroid hormones, is highly prevalent in Brazil, especially among women and the elderly. Although an increasing number of studies have related SCH to an increased risk of coronary artery disease and mortality, there have been no randomized clinical trials verifying the benefit of levothyroxine treatment in reducing these risks, and the treatment remains controversial. OBJECTIVE: This consensus, sponsored by the Thyroid Department of the Brazilian Society of Endocrinology and Metabolism and developed by Brazilian experts with extensive clinical experience with thyroid diseases, presents these recommendations based on evidence for the clinical management of SCH patients in Brazil. MATERIALS AND METHODS: After structuring the clinical questions, the search for evidence in the literature was initially performed in the MedLine-PubMed database and later in the Embase and SciELO - Lilacs databases. The strength of evidence was evaluated according to the Oxford classification system and established based on the experimental design used, considering the best available evidence for each question and the Brazilian experience. RESULTS: The topics covered included SCH definition and diagnosis, natural history, clinical significance, treatment and pregnancy, and the consensus issued 29 recommendations for the clinical management of adult patients with SCH. CONCLUSION: Treatment with levothyroxine was recommended for all patients with persistent SCH with serum TSH values > 10 mU/L and for certain patient subgroups.

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Laboratory tests are essential for accurate diagnosis and cost-effective management of thyroid disorders. When the clinical suspicion is strong, hormonal levels just confirms the diagnosis. However, in most patients, symptoms are subtle and unspecific, so that only biochemical tests can detect the disorder. The objective of this article is to do a critical analysis of the appropriate use of the most important thyroid function tests, including serum concentrations of thyrotropin (TSH), thyroid hormones and antithyroid antibodies. Through a survey in the MedLine database, we discuss the major pitfalls and interferences related to daily use of these tests and recommendations are presented to optimize the use of these diagnostic tools in clinical practice.

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Myxedema coma, a rare but fatal emergency, is an extreme expression of hypothyroidism. We describe a 51-year-old male patient who has discontinued hypothyroidism treatment 10 months earlier and developed lethargy, edema, and cold intolerance symptoms. He also had a previous diagnosis of neurofibromatosis. After admission, he progressed to respiratory insufficiency and coma. The prompt recognition of the condition, thyroid hormone replacement, and management of the complications (hypoventilation, cardiogenic shock associated with swinging heart, adrenal and renal insufficiency and sepsis), resulted in a favorable evolution.

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A case report of an atipical inferior rectus congenital fibrosis associated with a generalized muscular hypotonia is presented. It shows mild hipotropia with a normal visual acuity and binocularity in infraversion position contrasting with the severe hipotropia and ambliopy found. The surgical procedure took these facts into consideration, so we performed a small retrocess of the muscle with the objective to correct the head position without changes in the reading position. The postoperative results were satisfactory.

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Purpose: To identify improvement in visual performance of low vision students after assessment and management conducted at the Low Vision Service of State University of Campinas (UNICAMP). Method: Fourteen low vision students aged six to 30 years, attended in a room with resources for visual deficiency in Americana and Santa Bárbara d'Oeste -- SP during 1998 received complete ophthalmologic examination, specialized low vision assessment and educational intervention. Results: The most prevalent cause of vision loss was operated congenital cataract with four cases (28.6%), followed by congenital bilateral toxoplasmic macular scars and eye malformation, both with two cases (14.3%) cases each. Eight students (57.2%) had acuity classified as severe vision loss, four (28.6%) profound, one (7.1%) moderate and one (7.1%) nearly normal vision. Twelve (85.7%) were behind expected school grade. Optical aids were prescribed for 12 (85.8%) students but only 7 (58.3%) acquired the aids thus improving significantly their school performance. Conclusion: All students improved school performance even considering that 12 (85.7%) had severe to profound vision loss. As a group their performance could even be better if the optical aid prescriptions were acquired by all. This indicates the need of a social work to support such needs. For good results at school and effective student inclusion a partnership between school, family and specialized education is necessary. We recommend to promote the benefits of the resource room.

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PURPOSE: To verify perceptions and conduct of students with visual impairment regarding devices and equipment utilized in schooling process. METHODS: A transversal descriptive study on a population of 12-year-old or older students in schooling process, affected by congenital or acquired visual impairment, inserted in the government teaching system of Campinas during the year 2000. An interview quiz, created based on an exploratory study was applied. RESULTS: A group of 26 students, 46% of them with low vision and 53.8% affected by blindness was obtained. Most of the students were from fundamental teaching courses (65.4%), studying in schools with classrooms provided with devices (73.1%). Among the resources used in reading and writing activities, 94.1% of the students reported they used the Braille system and 81.8% reported that the reading subject was dictated by a colleague. Most of the students with low vision wore glasses (91.7%), and 33.3% utilized a magnifying glass as optical devices. Among the non-optical devices, the most common were the environmental ones, getting closer to the blackboard (75.0%) and to the window (66.7%) for better lighting. CONCLUSIONS: It became evident that students with low vision eye-sight made use of devices meant for bearers of blindness, such as applying the Braille system. A reduced number of low vision students making use of optical and non-optical devices applicable to their problems were observed, indicating a probable unawareness of their visual potential and the appropriate devices to improve efficiency.

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PURPOSE: To evaluate the frequency of different types of glaucoma at the Hospital das Clínicas of Campinas State University. METHODS: Cross-sectional study of 329 patients followed at the Glaucoma Service of Campinas State University from October 1 to December 20, 2000. The frequency of each type of glaucoma and the treatment were analyzed. RESULTS: There were 329 patients examined at the Glaucoma Service: 132 (40.1%) were referred to the service as glaucoma suspects and 197 (59.9%) as glaucoma patients. Ninety of the 132 glaucoma suspects had glaucoma (68.2%) and 42 are still under investigation (31.8%). Among the 329 patients, 283 (86%) had glaucoma, 42 (12.8%) were glaucoma suspects, 2 (0.6%) had ocular hypertension and 2 (0.6%) did not have glaucoma. There were 530 eyes with glaucoma: 298 (56.2%) with primary open angle glaucoma, 108 (20.4%) with chronic angle closure glaucoma, 21 (4%) with glaucoma following cataract surgery, 19 (3.6%) congenital glaucoma and 16 (3%) with low-tension glaucoma. All patients received initial clinical treatment with IOP-lowering medication. After a mean follow up of 10.5 months, 89 (16.8%) underwent laser therapy: 72 (13.6%) iridotomy, 7 (1.3%) trabeculoplasty and 10 (1.9%) panphotocoagulation. A hundred and seventy nine (33%) eyes required surgical treatment. CONCLUSION: The most frequent types of glaucoma were primary open angle and angle closure glaucoma. Low tension glaucoma and glaucoma associated with exfoliation syndrome were uncommon in this population.

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Multiloculated hydrocephalus is a clinicopathological entity consisting of enlarged, loculated ventricles and paraventricular poroencephalic cavities. We present two cases of multiloculated hydrocephalus: one due to infectious process of central nervous system and the other consequent to a congenital malformation. Tomographic aspects of this condition that permit the diagnosis are stressed. The pathophysiology, the management and the prognosis are discussed according to the available literature.

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We present the neuropsychological assessment with computer aid of six cerebral palsy children. Three children had right hemiparesis and three, left hemiparesis. The tomographic examination showed parietal cavities (porencephalic cyst in 4 children, ischemic injury in 1 case and subarachnoid cyst in 1 case). We have proposed to assess the visuo-spatial function since we suspected the children could have disturbance of this function. We did not detect this disturbance. On the other hand, the children had astereognosia and the right hemiparetic children preferred to execute signs on the right part of the computer visor. We discuss and propose explanations for both findings.