نتایج جستجو برای: 12 receptor deficiency

تعداد نتایج: 1251758  

Journal: :Journal of the Endocrine Society 2022

Abstract Hypopituitarism with deficiency of one or more pituitary hormones (combined hormone CPHD) can vary in severity and age at presentation. Additionally, the abnormalities may evolve time necessitating frequent evaluation. These hormonal deficits also be present as part a syndrome, patients showing extrapituitary such eye forebrain malformations. Over past decade, there has been an explosi...

Journal: :Salud publica de Mexico 2012
Teresa Shamah-Levy Salvador Villalpando Alejandra Jáuregui Juan A Rivera

OBJECTIVE To present an overview of micronutrient status of Mexican children in 2006. MATERIALS AND METHODS Data on iron, zinc, folate and vitamin B12 deficiencies and low serum copper and magnesium were gathered and critically analyzed from the 2006 National Health and Nutrition Survey. RESULTS Iron deficiency is still the main nutritional deficiency in children (13%-26%). Zinc deficiency ...

Journal: :Cell 2006
Daniel L. Motola Carolyn L. Cummins Veerle Rottiers Kamalesh K. Sharma Tingting Li Yong Li Kelly Suino-Powell H. Eric Xu Richard J. Auchus Adam Antebi David J. Mangelsdorf

In response to environmental and dietary cues, the C. elegans orphan nuclear receptor, DAF-12, regulates dauer diapause, reproductive development, fat metabolism, and life span. Despite strong evidence for hormonal control, the identification of the DAF-12 ligand has remained elusive. In this work, we identified two distinct 3-keto-cholestenoic acid metabolites of DAF-9, a cytochrome P450 invol...

Journal: :The Journal of Experimental Medicine 2003
Claire Fieschi Stéphanie Dupuis Emilie Catherinot Jacqueline Feinberg Jacinta Bustamante Adrien Breiman Frédéric Altare Richard Baretto Françoise Le Deist Samer Kayal Hartmut Koch Darko Richter Martin Brezina Guzide Aksu Phil Wood Suliman Al-Jumaah Miquel Raspall Alberto José da Silva Duarte David Tuerlinckx Jean-Louis Virelizier Alain Fischer Andrea Enright Jutta Bernhöft Aileen M. Cleary Christiane Vermylen Carlos Rodriguez-Gallego Graham Davies Renate Blütters-Sawatzki Claire-Anne Siegrist Mohammad S. Ehlayel Vas Novelli Walther H. Haas Jacob Levy Joachim Freihorst Sami Al-Hajjar David Nadal Dewton de Moraes Vasconcelos Olle Jeppsson Necil Kutukculer Klara Frecerova Isabel Caragol David Lammas Dinakantha S. Kumararatne Laurent Abel Jean-Laurent Casanova

The clinical phenotype of interleukin 12 receptor beta1 chain (IL-12Rbeta1) deficiency and the function of human IL-12 in host defense remain largely unknown, due to the small number of patients reported. We now report 41 patients with complete IL-12Rbeta1 deficiency from 17 countries. The only opportunistic infections observed, in 34 patients, were of childhood onset and caused by weakly virul...

2018
Asika Devi Elaine Rush Michelle Harper Bernard Venn

Vitamin B12 deficiency leads to serious health problems, whilst sub-optimal status is associated with raised biochemical markers of disease risk. Identifying at-risk groups could benefit both individuals and public health. Dietary data were sourced from the New Zealand Adult Nutrition Survey 2008/2009, involving a nationally representative sample of 4721 participants. Ethnic groupings were by r...

Journal: :Clinical chemistry 1992
L Hagelskjaer K Rasmussen

Accumulation of methylmalonic acid may provide an early clue to deficiency of cobalamin (vitamin B12) in tissue. Metabolic abnormalities involving precursors of methylmalonic acid are frequently observed in patients with hepatic diseases. To establish whether methylmalonic acid accumulates and thereby gives false-positive test results for cobalamin deficiency, we measured the concentration of m...

2016
Li-Kai Wang Kuo-Mao Lan Yao-Tsung Lin Jen-Yin Chen Utkan Sevuk Erkan Baysal Nurettin Ay Yakup Altas Rojhat Altindag Baris Yaylak Vahhac Alp Ertan Demirtas

and incorporate the Creative Commons Attribution – Non Commercial (unported, v3.0) License (http://creativecommons.org/licenses/by-nc/3.0/). By accessing the work you hereby accept the Terms. Non-commercial uses of the work are permitted without any further permission from Dove Medical Press Limited, provided the work is properly attributed. For permission for commercial use of this work, pleas...

Journal: :Haematologica 2006
Anne-Mette Hvas Hora Buhl Niels Bech Laursen Birger Hesse Lars Berglund Ebba Nexo

We report on the use of recombinant human intrinsic factor (rhIF) in a new vitamin B12 absorption test. Holotranscobalamin (holoTC) was measured before and 24 hours after intake of three 9-mg doses of vitamin B12 (B12) and again 24 hours after intake of the same dose of B12 together with rhIF (rhIF-B12). Nine patients with evident vitamin B12 deficiency had a significantly higher increase in ho...

2014
Kendra Cuffe William Stauffer John Painter Sharmila Shetty Jessica Montour Weigong Zhou

In 2008, clinicians performing routine medical examinations in the United States reported high rates of hematologic and neurologic disorders caused by vitamin B12 deficiency in resettled Bhutanese refugees. To confirm this finding, CDC screened Bhutanese refugees' serum samples for vitamin B12 levels and found vitamin B12 deficiency in 64% (n = 99) of samples obtained before departure and 27% (...

2006
Anne-Mette Hvas Ebba Nexo

Vitamin B12 deficiency is a major public health problem: however, there is no consensus on how to diagnose this deficiency. In the present review we attempt to give a balanced update. We include only issues related to diagnosing and treating vitamin B12 deficiency in the adult population and do not cover inherited diseases of vitamin B12 deficiency except for those related to classical pernicio...

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