Results 51 to 60 of about 181,884 (258)

Early Clinical, Imaging, and Pathological Characteristics of SRPK3/TTN‐Digenic Myopathy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective SRPK3/TTN‐digenic myopathy was recently established as a skeletal muscle myopathy caused by digenic inheritance. This study characterizes the early clinical presentation of SRPK3/TTN‐digenic myopathy in one previously reported and seven newly identified pediatric patients.
Rotem Orbach, Sandra Donkervoort, Carola Hedberg‐Oldfors, Giovanni Baranello, Dimah Saade, Precilla D'Souza, Ruchee Patel, Eva Michael, A. Reghan Foley, Diana Bharucha‐Goebel, S. Jin Haugland, Meghan McAnally, Omer Abdul Hamid, Katherine Chao, Ellen F. Macnamara, Alan H. Beggs, Anna Sarkozy, Juliane Mueller, Steven A. Moore, Richard S. Finkel, Cynthia J. Tifft, Francesco Muntoni, Anders Oldfors, Carsten G. Bönnemann   +23 more
wiley   +1 more source

Iron deficiency up-regulates iron absorption from ferrous sulphate but not ferric pyrophosphate and consequently food fortification with ferrous sulphate has relatively greater efficacy in iron-deficient individuals

, 2010
Fe absorption from water-soluble forms of Fe is inversely proportional to Fe status in humans. Whether this is true for poorly soluble Fe compounds is uncertain.
Egli, I., Zimmermann, Michael B., Hurrell, R.F., Zeder, C., Michael B. Zimmermann, Ralf Biebinger, Richard F. Hurrell, Biebinger, Ralf, Zeder, Christophe, Ines Egli, Christophe Zeder, Egli, Ines, Hurrell, Richard F., Zimmermann, M.B., Biebinger, R.   +14 more
core   +1 more source

Recurrent Hypothermia and Autonomic Dysfunction Secondary to Shapiro Syndrome

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT A 44‐year‐old man presented with recurrent hypothermia, diaphoresis and hypertension. Extensive investigation for infectious, inflammatory, metabolic and endocrine aetiologies was negative. MR scan of the brain demonstrated no lesions but revealed callosal dysgenesis, consistent with Shapiro syndrome.
Naveen Kumar, Jeremy Johnson, Susanne Watkins, Eoin Mulroy   +3 more
wiley   +1 more source

Nutritional zinc deficiency, immune capacity and malaria : a study on mediators of immunity to malaria caused by Plasmodium falciparum in African children

, 2009
This thesis aimed at investigating the role of genetic and nutritional factors that affect the immune response to malaria in Tanzanian children. The introductory chapter (Chapter 1) reviews the importance of nutritional deficiencies, particularly of zinc,
Mbugi, E.V.
core  

Impact of Plasma p‐tau181 on Cognition, Motor Phenotypes, and Disease Course in ALS

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Phosphorylated tau181 (p‐tau181), an Alzheimer's disease biomarker, was recently evaluated in amyotrophic lateral sclerosis (ALS). We investigated plasma p‐tau181 in 202 ALS/ALS‐FTD patients and 94 healthy controls, assessing cognitive performance, motor function, and longitudinal dynamics.
Elisabeth Kasper, Annaliis Lehto, Nina Nordmann, Oliver Peters, Julian Hellmann, Josef Priller, Eike Jakob Spruth, Gabor C. Petzold, Ina Vogt, Patrick Weydt, Sarah Bernsen, Elisabeth Dinter, Björn Falkenburger, René Günther, Emrah Düzel, Wenzel Glanz, Matthis Synofzik, Lukas Beichert, Annika Spottke, Michael Wagner, Frederic Brosseron, Matthias C. Schmid, Anja Schneider, Stefan Teipel, Johannes Prudlo, Andreas Hermann   +25 more
wiley   +1 more source

Comprehensive Characterization of 98 Chinese Cases of Genetic Creutzfeldt‐Jakob Disease With T188K Mutation

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective To characterize the demographic, clinical, and laboratory features of the Chinese patients of genetic Creutzfeldt‐Jakob disease with T188K variant (T188K‐gCJD), the most common subtype of genetic prion diseases (gPrDs) in China. Methods In this nationwide retrospective study, data from 98 genetically confirmed T188K‐gCJD patients ...
Chun‐Jie Li, Dong‐Lin Liang, Li‐Ping Gao, Wei‐Wei Zhang, Wei Zhou, A. Ruhan, Bing Xu, Run‐Dong Cao, Kang Xiao, Cao Chen, Qi Shi, Xiao‐Ping Dong   +11 more
wiley   +1 more source

A sulphur deficiency-induced gene, sdi1 , involved in the utilization of stored sulphate pools under sulphur-limiting conditions has potential as a diagnostic indicator of sulphur nutritional status

, 2009
A sulphate deficiency-induced gene, sdi1, has been identified by cDNA-amplified fragment length polymorphism (AFLP) analysis utilizing field-grown, nutrient-deficient wheat (Triticum aestivum var. Hereward).
Parmar, S., Peter B. Barraclough, Malcolm J. Hawkesford, Barraclough, P. B., Saroj Parmar, Hawkesford, M. J., Howarth, J. R., Jonathan R. Howarth   +7 more
core   +1 more source

Interactions and potential implications of Plasmodium falciparum-hookworm coinfection in different age groups in south-central Côte d'Ivoire [PDF]

, 2012
BACKGROUND: Given the widespread distribution of Plasmodium and helminth infections, and similarities of ecological requirements for disease transmission, coinfection is a common phenomenon in sub-Saharan Africa and elsewhere in the tropics. Interactions
Richard F Hurrell, Aurélie A Righetti, N'Goran Eliézer K., Righetti, Aurélie A., N'Goran, E. K., Ahou-Yah G Koua, Utzinger, Jürg, Glinz, D., Koua Ahou-Yah G., Hurrell Richard F., Wegmüller, Rita, Rita Wegmüller, Utzinger Jürg, Dominik Glinz, Righetti Aurélie A., Adiossan Lukas G., Jürg Utzinger, Niamké, S., Adiossan, L. G., Lukas G Adiossan, Righetti, A. A., Utzinger, J., Koua, Ahou-Yah G., Niamké Sébastien, Adiossan, Lukas G., Niamké, Sébastien, Koua, A. Y. G., Hurrell, R. F., Glinz Dominik, Glinz, Dominik, Wegmüller Rita, Eliézer K N'Goran, N'Goran, Eliézer K., Sébastien Niamké, Hurrell, Richard F., Wegmüller, R.   +35 more
core   +1 more source

Metabolic and Microvascular Risk Factors Associated With Brain Health in Type 1 Diabetes

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT We examined relationships between metabolic factors, microvascular complications, and brain health in adults with type 1 diabetes. Fifty‐one adults were assessed for metabolic risk factors, microvascular complications, and cognitive function, with a subset completing brain MRI.
Jihyun Park, Emily J. Koubek, Richard Beare, Lynn Ang, Brian C. Callaghan, Rodica Pop‐Busui, Eva L. Feldman, Evan L. Reynolds   +7 more
wiley   +1 more source

Sex‐Stratified Association of Regional Dopamine Transporter Binding With Disease Progression in Amyotrophic Lateral Sclerosis

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective To clarify the clinical relevance of dopamine transporter single‐photon emission computed tomography (DAT‐SPECT) abnormalities in amyotrophic lateral sclerosis (ALS), with a prespecified focus on sex‐stratified associations with disease progression and short‐term prognosis.
Tomoya Kawazoe, Keizo Sugaya, Kentaro Hayashi, Keiko Hino, Yasuhiro Nakata, Kota Bokuda, Toshio Shimizu, Kazushi Takahashi   +7 more
wiley   +1 more source