358 research outputs found

    A 10-Year Experience in Intraoperative Parathyroid Hormone Measurements for Primary Hyperparathyroidism: A Prospective Study of 91 Previous Unexplored Patients

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    Introduction. Primary hyperparathyroidism (PHP) is characteristically determined by high levels of calcium and high or inappropriate levels of parathyroid hormone (PTH). Technological advances have dramatically changed the surgical technique over the years once intraoperative parathyroid hormone (IOPTH) assay had allowed for focused approaches. Objective. To evaluate our 10-year experience in employing a rapid intraoperative PTH assay for PHP. Methods. A prospective cohort of 91 PHP-operated patients in a tertiary institution in São Paulo, Brazil, from June 2000 to April 2011. Results. We had 85 (93.4%) successful parathyroidectomies, 6 (6.6%) failed parathyroidectomies in 91 previous unexplored patients, and 5 (100%) successful remedial surgeries. The IOPTH was true-positive in 88.5%, true-negative in 7.3%, false-positive in 2.1%, and false-negative in 2.1% of the procedures. IOPTH was able to obviate additional exploration or to ask for additional exploration in 92 (95.8%) procedures. Conclusion. The IOPTH revealed to be an important technological adjunct in the current parathyroid surgery for PHP

    Total Parathyroidectomy with Presternal Intramuscular Autotransplantation in Renal Patients: A Prospective Study of 66 Patients

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    Surgical treatment of secondary (SHPT) and tertiary hyperparathyroidism (THPT) may involve various surgical approaches. The aim of this paper was to evaluate presternal intramuscular autotransplantation of parathyroid tissue as a surgical option in SHPT and THPT treatment. 66 patients with renal chronic disease underwent surgery from April 2000 to April 2005 at Universidade Federal São Paulo, Brazil. There were 38 SHPT patients (24 women/14 men), mean age of 39.yrs (range: 14–58), and 28 THPT patients (14 women/14 men), mean age of 43.4 yrs (range: 24–62). Postoperative average followup was 42.9 months (range: 12–96). Postoperative intact PTH increased throughout followup from 73.5 pg/mL to 133 pg/mL on average from 1st to the 5th year, respectively, in SHPT and from 54.9 pg/mL to 94.7 pg/mL on average from 1st to 5th year, respectively, in THPT group. Definitive hypoparathyroidism was observed in 4 (6.06%) patients and graft-dependent recurrence in 6 (9.09%). Presternal intramuscular autotransplantation of parathyroid tissue is a feasible and safe surgical option in SHPT and THPT treatment

    Molecular cloning of ion channels in Felis catus that are related to periodic paralyses in man: a contribution to the understanding of the genetic susceptibility to feline neck ventroflexion and paralysis

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    Neck ventroflexion in cats has different causes; however, the most common is the hypokalemia associated with flaccid paralysis secondary to chronic renal failure. in humans, the most common causes of acute flaccid paralysis are hypokalemia precipitated by thyrotoxicosis and familial forms linked to mutations in sodium, potassium, and calcium channel genes. Here, we describe the sequencing and analysis of skeletal muscle ion channels in Felis catus that could be related to periodic paralyses in humans, contributing to the understanding of the genetic susceptibility to feline neck ventroflexion and paralysis. We studied genomic DNA from eleven cats, including five animals that were hyperthyroid with hypokalemia, although only one presented with muscle weakness, and six healthy control domestic cats. We identified the ion channel ortholog genes KCNJ2, KCNJ12, KCNJ14, CACNA1S and SCN4A in the Felis catus genome, together with several polymorphic variants. Upon comparative alignment with other genomes, we found that Felis catus provides evidence for a high genomic conservation of ion channel sequences. Although we hypothesized that neck ventroflexion in cats could be associated with a thyrotoxic or familial periodic paralysis channel mutation, we did not identify any previously detected human channel mutation in the hyperthyroid cat presenting hypokalemia. However, based on the small number of affected cats in this study, we cannot yet rule out this molecular mechanism. Notwithstanding, hyperthyroidism should still be considered as a differential diagnosis in hypokalemic feline paralysis.Fundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP)Universidade Federal de São Paulo, Escola Paulista Med, Dept Med, Div Endocrinol,Lab Mol & Translat Endocrinol, BR-04039032 São Paulo, BrazilUniversidade Federal de São Paulo, Escola Paulista Med, Dept Med, Div Endocrinol,Lab Mol & Translat Endocrinol, BR-04039032 São Paulo, BrazilFAPESP: 2011/20747-8FAPESP: 2012/02529Web of Scienc

    Diagnóstico precoce de neoplasia endócrina múltipla tipo 2B: um desafio para os médicos

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    BACKGROUND: The hereditary form of medullary thyroid carcinoma may occur isolated as a familial medullary thyroid carcinoma (FMTC) or as part of Multiple Endocrine Neoplasia 2A (MEN2A) and 2B (MEN2B). MEN2B is a rare syndrome, its phenotype may usually, but not always, be noted by the physician. In the infant none of the MEN2B characteristics are present, except by early gastrointestinal dysfunction caused by intestinal neuromas. When available, genetic analysis confirms the diagnosis and guides pre-operative evaluation and extent of surgery. Here we report four cases of MEN2B in which the late diagnosis had a significant impact in clinical evolution and, potentially, in overall survival. CASE REPORT: We report four cases, 2 men and 2 women, with differences in their phenotypes and with a late diagnosis. The first case has a history of severe gastrointestinal obstruction requiring a surgery intervention two days after his birth. The second told had nodules in the oral mucosa and constipation since childhood. The third case referred a history of constipation from birth until 5 months of life. The fourth has had a history of chronic constipation since childhood. DISCUSSION: New concepts have emerged since the RET oncogene was identified in 1993 as the responsible gene for hereditary medullary thyroid carcinoma. The majority of MEN2B individuals have M918T mutation in the exon 16 of RET, with a few cases having a mutation A883F or the association of V804M with E805K, Y806C or S904C mutations. The consensus classifies the RET mutation in codon 918 as of highest risk and recommends total thyroidectomy and central lymph node dissection until 6 months after birth. A fast and precise diagnosis is essential to reach these goals. The identification of early manifestations such as intestinal ganglioneuromatosis and oral mucosal neuromas should prompt the physician to initiate an investigation for multiple endocrine neoplasia type 2B. CONCLUSION: The diagnosis of MEN2B is very important to allow appropriate investigation of associated diseases and to allow counseling and appropriate screening of relatives for a RET mutation. Even patients with MEN2B, which often have typical physical features, may not be properly recognized and be followed as a sporadic case. Based on this, all suspicious cases of multiple endocrine neoplasia should undergo a molecular genetic test.A forma hereditária do carcinoma medular da tiróide pode ocorrer de modo isolado, o carcinoma medular da tiróide familiar (FMTC), ou como parte das neoplasias endócrinas múltiplas tipo 2A (MEN2A) e 2B (MEN2B). MEN2B é uma síndrome rara e seu fenótipo é usualmente, mas nem sempre, notado pelo médico. Na infância, nenhuma das características de MEN2B estão presentes, exceto pela disfunção gastrintestinal precoce, causada pelos neuromas intestinais. Quando disponível, a análise genética confirma o diagnóstico e orienta a avaliação pré-operatória e extensão da cirurgia. Neste artigo, apresentamos quatro casos de MEN2B, nos quais o diagnóstico tardio teve impacto significativo na evolução clínica e, potencialmente, na mortalidade em geral. APRESENTAÇÃO DOS CASOS: Apresentamos quatro casos, dois homens e duas mulheres, com diferenças em seus fenotipos e com diagnóstico tardio. O primeiro caso tem história de obstrução gastrintestinal importante em que foi necessária cirurgia dois dias após o nascimento. O segundo paciente apresentava nódulos na mucosa oral e constipação desde a infância. O terceiro referia história de constipação desde o nascimento até 5 meses de idade. O quarto tinha história de constipação intestinal desde a infância. DISCUSSÃO: Novos conceitos emergiram desde que o oncogene RET foi identificado, em 1993, como o gene responsável pelo carcinoma medular da tiróide hereditário. A maioria dos indivíduos apresenta a mutação M918T no éxon 16 do RET, enquanto poucos casos apresentam a mutação A883F ou a associação de V804M com E805K, Y806C ou S904C. O consenso recomenda a tiroidectomia total com dissecção dos linfonodos no compartimento central até os 6 meses após o nascimento. O diagnóstico rápido e preciso é essencial para o atingir os objetivos. CONCLUSÃO: O diagnóstico precoce de MEN2B é muito importante para propiciar a investigação apropriada de doenças associadas e para permitir aconselhamento e rastreamento dos parentes para uma mutação do RET. Pacientes com MEN2B, que apresentam frequentemente achados típicos ao exame físico, podem não ser reconhecidos e seguidos como casos esporádicos. Por causa disso, todos os casos de neoplasia endócrina múltipla devem ser avaliados pelo teste genético para mutações do RET.Federal University of São Paulo Department of Medicine Division of EndocrinologyFleury-Medicina e SaúdeUNIFESP, Department of Medicine Division of EndocrinologySciEL

    Who died as a result of the tsunami? – Risk factors of mortality among internally displaced persons in Sri Lanka: a retrospective cohort analysis

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    BACKGROUND: Describing adverse health effects and identifying vulnerable populations during and after a disaster are important aspects of any disaster relief operation. This study aimed to describe the mortality and related risk factors which affected the displaced population over a period of two and a half months after the 2004 Indian Ocean tsunami in an eastern coastal district of Sri Lanka. METHODS: A cross-sectional household survey was conducted in 13 evacuation camps for internally displaced persons (IDP). Information on all pre-tsunami family members was collected from householders, and all deaths which occurred during the recall period (77 to 80 days starting from the day of the tsunami) were recorded. The distribution of mortality and associated risk factors were analysed. Logistic regression modelling using the generalized estimating equations method was applied in multivariate analysis. RESULTS: Overall mortality rate out of 3,533 individuals from 859 households was 12.9% (446 deaths and 11 missing persons). The majority of the deaths occurred during and immediately after the disaster. A higher mortality was observed among females (17.5% vs. 8.2% for males, p < 0.001), children and the elderly (31.8%, 23.7% and 15.3% for children aged less than 5 years, children aged 5 to 9 years and adults over 50 years, respectively, compared with 7.4% for adults aged 20 to 29 years, p < 0.001). Other risk factors, such as being indoors at the time of the tsunami (13.8% vs. 5.9% outdoors, p < 0.001), the house destruction level (4.6%, 5.5% and 14.2% in increasing order of destruction, p < 0.001) and fishing as an occupation (15.4% vs. 11.2% for other occupations, p < 0.001) were also significantly associated with increased mortality. These correlations remained significant after adjusting for the confounding effects by multivariate analysis. CONCLUSION: A significantly high mortality was observed in women and children among the displaced population in the eastern coastal district of Sri Lanka who were examined by us. Reconstruction activities should take into consideration these changes in population structure

    Patterns and Collective Behavior in Granular Media: Theoretical Concepts

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    Granular materials are ubiquitous in our daily lives. While they have been a subject of intensive engineering research for centuries, in the last decade granular matter attracted significant attention of physicists. Yet despite a major efforts by many groups, the theoretical description of granular systems remains largely a plethora of different, often contradicting concepts and approaches. Authors give an overview of various theoretical models emerged in the physics of granular matter, with the focus on the onset of collective behavior and pattern formation. Their aim is two-fold: to identify general principles common for granular systems and other complex non-equilibrium systems, and to elucidate important distinctions between collective behavior in granular and continuum pattern-forming systems.Comment: Submitted to Reviews of Modern Physics. Full text with figures (2Mb pdf) avaliable at http://mti.msd.anl.gov/AransonTsimringReview/aranson_tsimring.pdf Community responce is appreciated. Comments/suggestions send to [email protected]

    Numerical study on hygroscopic material drying in packed bed

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    The paper addresses numerical simulation for the case of convective drying of hygroscopic material in a packed bed, analyzing agreement between the simulated and the corresponding experimental results. In the simulation model of unsteady simultaneous one-dimensional heat and mass transfer between gas phase and dried material, it is assumed that the gas-solid interface is at thermodynamic equilibrium, while the drying rate of the specific product is calculated by applying the concept of a "drying coefficient". Model validation was clone on the basis of the experimental data obtained with potato cubes. The obtained drying kinetics, both experimental and numerical, show that higher gas (drying agent) velocities (flow-rates), as well as lower equivalent grain diameters, induce faster drying. This effect is more pronounced for deeper beds, because of the larger amount of wet material to be dried using the same drying agent capacity
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