Results 141 to 150 of about 294,541 (345)

Atypical Clinical Course of Griscelli Syndrome Type 2 With Primarily Neurologic Presentation and Adult‐Onset in a 46‐Year‐Old Male

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Griscelli Syndrome Type 2 (GS2) is a rare autosomal recessive disorder caused by pathogenic mutations in the RAB27A gene. Typically, it is characterized by cutaneous hypopigmentation, immunodeficiency, with or without neurological abnormalities secondary to hemophagocytic lymphohistiocytosis (HLH). Without treatment, GS2 often results in fatal
Dzhoy Papingi, Michael Kutsche, Helena Lichtenfeld, Fanny Kortüm, Angela Abicht, Laura Herrmann, Theresia Herget   +6 more
wiley   +1 more source

Clinical, Behavioral and Neuroradiological Phenotype in an Italian Cohort of Patients With Xia Gibbs Syndrome: A Multicenter Cross‐Sectional Study and Systematic Literature Review

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Heterozygous variants in the AHDC1 gene are associated with Xia Gibbs Syndrome (XGS), a genetic disorder with a highly variable phenotype. Cognitive impairment, motor delay, language delay, neonatal hypotonia, and sleep apnea are considered “cardinal” signs of the disease.
Giulia Cinelli, Stefania Della Vecchia, Patrizia Bergonzini, Elisa Caramaschi, Elisabetta Spezia, Claudia Parenti, Simona Filomena Madeo, Laura Lucaccioni, Cavalleri Francesca, Marisa Pugliese, Federico Raviglione, Clara Colonna, Olga Calabrese, Ilaria Stanghellini, Maria Carmen Marongiu, Enrico Biagioni, Anna Rita Ferrari, Roberta Battini, Lorenzo Iughetti   +18 more
wiley   +1 more source

Facilitating Genetic Testing for Perinatal Demise: Development of a Multidisciplinary Workflow

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Genetic contributors to perinatal demise are common but frequently undiagnosed due to clinical and logistical barriers. We aimed to improve access to genetic for intrauterine fetal demise (IUFD), stillbirth, and early neonatal death by developing a multidisciplinary workflow.
Mackenzie Mosera, Samantha Stover, Elise Boos, Molly Casey, Joseph Fanning, Chelsea Fechter, Matthew Grace, L. Dupree Hatch, Michaela Ibach, Carla Jackson, Jiancong Liang, Caitlin Mann, Emily A. Morris, Jessica Turnbull, Marie Williams, Bryce A. Schuler   +15 more
wiley   +1 more source

Unveiling a New Link: Cholesterol Deficiency in Smith–Lemli–Opitz and Niemann–Pick C as a Driver of Ciliopathies

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The ciliopathies are a group of genetic disorders caused by defective function of either the primary cilia (a large number) or the motile cilia (a much smaller number). These have been defined as diseases with mutations in genes encoding individual ciliary or cilia‐associated proteins.
Robert P. Erickson, Maria Teresa Fiorenza   +1 more
wiley   +1 more source

Olfactory Bulb Volume Reflects Olfactory Dysfunction and Network Organization: Insights From the Population‐Based Rhineland Study

International Forum of Allergy &Rhinology, EarlyView.
ABSTRACT Background Olfactory dysfunction is common in aging and an early symptom of neurodegenerative diseases, but how structural (olfactory bulb [OB] volume) and functional (olfactory network [OFN] functional connectivity [FC]) brain features interact to shape odor identification ability remains unclear.
Weiyi Zeng, Konstantinos Melas, Santiago Estrada, N. Ahmad Aziz, Monique M. B. Breteler   +4 more
wiley   +1 more source

Scalp electroacupuncture targeting trigeminal nerve activation alleviates post‐traumatic stress disorder–induced depression and neuroinflammation in mice

Animal Models and Experimental Medicine, EarlyView.
Scalp electroacupuncture (SA) through activation of the trigeminal pathway exerts anti‐inflammatory, antidepressant, and anxiolytic effects in an animal model of post‐traumatic stress disorder induced by single prolonged stress. This suggests that SA is involved in neuroinflammation and changes in brain‐derived neurotrophic factor protein through the ...
Bombi Lee, Yoongeum Kim, Hyungjun Kim, Dae‐Hyun Hahm   +3 more
wiley   +1 more source

THE INFLUENCE OF SELECTED FACTORS ON THE YIELD OF Allium moly L. BULBS

Acta Scientiarum Polonorum: Hortorum Cultus, 2007
The effect of term of planting and size of bulbs on the yield of Allium moly bulbs was examined. Bulbs of circumference of 5–6 and 6–7 cm were planted in three terms: 29.09; 09.10 and 19.10.
Jerzy Hetman, Halina Laskowska, Wojciech Durlak   +2 more
doaj  

Blood Lactate as a Prognostic Biomarker for Survival and Weight Loss in Amyotrophic Lateral Sclerosis: An Exploratory–Validation Study

Annals of Neurology, EarlyView.
Objective Lactate is increasingly recognized as an energy substrate, but its relevance to amyotrophic lateral sclerosis (ALS) remains unclear. We examined whether blood lactate is associated with survival and weight loss in ALS. Methods This retrospective study included an Australian exploratory cohort and a Japanese validation cohort with clinical ...
Ryutaro Nakamura, Frederik J. Steyn, Shuhei Kobashi, Nobuhiro Ogawa, Akihiro Kitamura, Isamu Yamakawa, Robert D. Henderson, Shyuan T. Ngo, Makoto Urushitani   +8 more
wiley   +1 more source

Distinct Prescription Patterns Emerge Years Before ALS Diagnosis: A Nationwide Registry‐Based Study

Annals of Neurology, EarlyView.
Objective The prodromal phase of amyotrophic lateral sclerosis (ALS) is poorly defined. We aimed to characterize prescription drug use patterns in the pre‐diagnostic period by analyzing nationwide prescription data to identify the earliest divergence between individuals who developed ALS and matched healthy controls.
Magne Haugland Solheim, Trond Riise, Marianna Cortese, Ola Nakken, Ole‐Bjørn Tysnes, Jannicke Igland, Kjetil Bjornevik   +6 more
wiley   +1 more source

INFLUENCE OF CULTIVATION METHOD AND BULBS PLANTING DEPTH ON THE GROWTH AND YIELDING OF TULIPS

Acta Scientiarum Polonorum: Hortorum Cultus, 2013
Tulips belong to one of the most important bulbous plants from the economic point of view. Bulbs are reproduced in order to force for cut flowers. The biggest problem for the Polish producers is to obtain high yield of good quality bulbs, so that it is ...
Barbara Marcinek, Jerzy Hetman, Danuta Kozak   +2 more
doaj