Results 101 to 110 of about 6,542,588 (257)

X-linked agammaglobulinemia and isolated growth hormone deficiency

, 1998
X-linked agammaglobulinemia and isolated growth hormone deficiency was first described in 1980 and then classified as a different primary immune deficiency.
Duran Arslan, Mustafa Kendirci, Türkan Patıroğlu, Selim Kurtoğlu   +3 more
core   +3 more sources

A Novel Splice Variant in ERGIC1 Causes Arthrogryposis Multiplex Congenita—Characterization Using Urine‐Derived Cells

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Arthrogryposis multiplex congenita (AMC) is defined as the presence of joint contractures affecting at least two body regions at birth. Three different ERGIC1 variants have been reported in individuals with AMC. Here, we report on a 16‐year‐old male with a homozygous ERGIC1 c.250+1G>A variant that was classified as a variant of uncertain ...
Lauren Kerr, Paul McKay, Juliana Marulanda, Zenghui Wu, Reggie Hamdy, Sena Tavukcu, Noémi Dahan‐Oliel, Frank Rauch   +7 more
wiley   +1 more source

Managing Transition in Patients Treated with Growth Hormone

Frontiers in Endocrinology, 2017
Growth hormone (GH) promotes growth in children, but is also essential for bone strength, body composition, metabolic factors, such as lipid profile, and maintenance of quality of life. The Merck KGaA (Germany) funded “360° GH in Europe” meeting, held in
Berthold P. Hauffa, Philippe Touraine, Tanya Urquhart-Kelly, Ekaterina Koledova   +3 more
doaj   +1 more source

The EXPLAIN Study: Exploring Arthrogryposis Multiplex Congenita in Adults in Norway — A Description of Demographic, Medical, and Neurological Findings

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Arthrogryposis Multiplex Congenita (AMC) encompasses several hundred conditions with diverse genetic, pathophysiological, and clinical origins. The overarching EXPLAIN study explores underlying causes and implications of AMC and represents the largest clinical cohort of adults with AMC reported to date.
My Vuong Hermansen, Kristin Ørstavik, Unni Steen, Mathias Toft, Cathrine Brunborg, Lena Lande Wekre   +5 more
wiley   +1 more source

Prevalence of Hypothalamic–Pituitary Abnormalities in Pediatric Patients with Growth Hormone Deficiency

Sage Open Pediatrics
Growth hormone deficiency (GHD) is a key differential diagnosis in children with proportionate short stature. While brain magnetic resonance imaging (MRI) is recommended for all confirmed GHD cases to rule out hypothalamic-pituitary anomalies, its universal application remains debated We conducted a retrospective, single-center ...
Giorgio Sodero, Luigi Antonio Moscogiuri, Marilea Lezzi, Fabio Comes, Paola Passoforte, Giacomo Perrone, Aniello Meoli, Anna Camporeale, Antonietta Villirillo, Francesco Gallo   +9 more
openaire   +2 more sources

Animal stroke models and outcome evaluation: A review

Animal Models and Experimental Medicine, EarlyView.
Rodents are the preeminent stroke model species. Large animal models exist too, but are poorly standardized. Ischemic and hemorrhagic experimental models are available, with the intraluminal filament model being predominant. Outcomes are evaluated via quantifying subjects' sensorimotor impairment, cognitive memory faculties, degree of cellular ...
Solsa Cariba, Helen M. Atkinson, Anthony K. C. Chan   +2 more
wiley   +1 more source

Retinal neural and vascular structure in isolated growth hormone deficiency children and evaluation of growth hormone treatment effect

, 2018
To evaluate neural and vascular retinal morphology of children with isolated growth hormone deficiency (GHD) and to determine any retinal changes due to GH ...
Döğer, E., Yalçın, N.G., Yüce, Ö., Çamurdan, Orhun, Yüce, Özge, Bideci, A., Çamurdan, O., Aktaş, Zeynep, Yalçın, Nuriye Gökçen, Hasanreisoğlu, M., Döğer, Esra, Aktaş, Z., Emeksiz, Hamdi Cihan, Cinaz, Peyami, Cinaz, P., Bideci, Aysun, Emeksiz, H.C., Hasanreisoğlu, Murat, Yalcin, Nuriye Gokcen, Yuce, Ozge and Yalcin, Nuriye Gokcen and Bideci, Aysun and Doger, Esra and Emeksiz, Hamdi Cihan and Hasanreisoglu, Murat and Aktas, Zeynep and Camurdan, Orhun and Cinaz, Peyami   +19 more
core   +1 more source

Cortical bone distribution in the human mandibular symphysis: Ontogenic and morphometric approaches in archeological context

The Anatomical Record, EarlyView.
Abstract The human mandibular symphysis concentrates multiaxial loads during function and remodels throughout growth, but the precise mechanisms underlying cortical bone shape during growth remain relatively unexplored. Approaches based solely on thickness or external cortical contours provide only partial insights and do not capture the functional ...
Ana Ribeiro, Elsa Garot, Christine Couture, Pierre‐Hadrien Decaup   +3 more
wiley   +1 more source

Positive influence of long-term growth hormone therapy on circulating stem cells in pediatric patients with growth hormone deficiency

Scientific Reports
Very small embryonic/epiblast‐like stem cells (VSELs), present in circulating blood, are small, non-hematopoietic cells that express markers of pluripotent embryonic and primordial germ cells.
Anna Wędrychowicz, Katarzyna Sielatycka,, Magda Kucia, Ewa Kubiś, Dorota Roztoczyńska, Jerzy B. Starzyk   +5 more
doaj   +1 more source

Pelvic breadth and juvenile locomotor energetics: Implications for the obstetrical dilemma hypothesis across human growth in past and present humans

The Anatomical Record, EarlyView.
Abstract The obstetrical dilemma hypothesis (ODH) proposes an evolutionary trade‐off between obstetric requirements and locomotor performance. However, whether external pelvic breadth measures influence walking energetics during human growth remains poorly understood.
Guillermo Zorrilla‐Revilla, Olalla Prado‐Nóvoa, Kevin P. Davy, José Miguel Carretero, Rebeca García‐González   +4 more
wiley   +1 more source