Results 81 to 90 of about 51,593 (292)

[Acceleration of pubertal development].

La Pediatria medica e chirurgica : Medical and surgical pediatrics, 1996
Sexual precocity is defined as the appearance of physical signs of puberty at a time -3 SD before the mean age for the population, that is before 8 years for girls and 8.5-9.0 years for boys. The Authors discuss about etiology, therapeutic approach, indications for treatment, results and still open problems in this condition.
ANTONIAZZI, Franco, ZAMBONI, Giorgio, TATO', Luciano   +2 more
openaire   +2 more sources

Review of the Molecular and Developmental Basis of Myhre Syndrome, Bench Research

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre syndrome (MS) is a connective‐tissue disorder within the acromelic dysplasia spectrum. It is characterized by congenital craniofacial, skeletal, cutaneous anomalies, respiratory, cardiovascular along with intellectual disability, deafness, and progressive fibrosis.
Camille Viaut, Valerie Cormier‐Daire
wiley   +1 more source

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

Longitudinal Phenotypic Trajectories in GNAO1‐Related Disorders: Defining Disease Progression and Clinical Profiles

Annals of Neurology, EarlyView.
Objective Pathogenic variants in GNAO1 cause a spectrum of epilepsy, movement disorders, and developmental impairment. Clinical heterogeneity complicates prognosis and therapeutic development. We present the first longitudinal natural history study of GNAO1‐related disorders (GNAO1‐RD) to delineate phenotypic trajectories. Methods Sixty‐six individuals
Jana Domínguez‐Carral, Ana María Domínguez Cobo, Sol Balsells, Anna Aguilar‐Ros, Chu‐Ting Chang, William G. Ludlam, Kathryn Yang, Katerina Bernardi, Micaela Chinigioli, Ainara Salazar‐Villacorta, Veronica Di Pisa, Nuria Lamagrande‐Casanova, Elena González‐Alguacil, Beatriz De la Casa‐Fages, Akihisa Okumura, Josefina Rodríguez, Ayush Agarwal, Daniela Muñoz‐Chesta, Carolina Reynoso‐Osnayo, Amy Lin, Brahim Tabarki, Jobaida Parvin, Adolfo Alberto Gallo, Andreia Forno, Fabian Maass, Johnny Montiel Blanco, Salomé Nasif, Elizabeth Jennions, Jorge Luis Ramón‐Gómez, Helene Verhelst, Juan José Nieto Barceló, Dunja Čokolić Petrović, Luz Victoria García Ruiz, Christoph van Riesen, Paulo Rego Sousa, Maria del Pilar Massaro Sanchez, Husnea Ara Khan, Wejdan Hakami, Jennifer Friedman, Iván Espinoza‐Quinteros, Monica Troncoso, Divyani Garg, Micaela Pauni, Hirokazu Kurahashi, María Concepción Miranda‐Herrero, Anna Duat‐Rodriguez, Luca Soliani, Manju A. Kurian, Angeles Schteinschnaider, Siddharth Srivastava, Darius Ebrahimi‐Fakhari, Kirill A. Martemyanov, Juan Darío Ortigoza‐Escobar   +52 more
wiley   +1 more source

Age at pubertal onset and educational outcomes [PDF]

Education has important short and long run implications for individual outcomes. In this paper we explore the association between age at pubertal onset and educational outcomes in a sample of Swedish girls.
Ranehill, Eva, Dreber, Anna, von Essen, Emma   +2 more
core  

Effects of feeding programme on the performance and energy balance of nulliparous rabbit does

Animal, 2012
A total of 190 rabbit females were used to evaluate five feeding programmes from 9 weeks of age to the first parturition: CAL, fed ad libitum with a control diet (C: 11.0 MJ digestible energy (DE) and 114 g digestible protein (DP)/kg dry matter (DM ...
E. Martínez-Paredes, L. Ródenas, B. Martínez-Vallespín, C. Cervera, E. Blas, G. Brecchia, C. Boiti, J.J. Pascual   +7 more
doaj   +1 more source

A critical reappraisal of the carotid sinus and carotid bulb: Distinguishing neurohistological function from vascular geometry

The Anatomical Record, EarlyView.
This review redefines the carotid bulb (CB) as a variable geometric dilation shaped by hemodynamics and the carotid sinus (CS) as a conserved neurohistological baroreceptor field. Distinguishing these entities clarifies a century of anatomical confusion and links geometry, neurohistology, and clinical interpretation within a unified framework ...
Răzvan Costin Tudose, Nicolae Radu, Mugurel Constantin Rusu   +2 more
wiley   +1 more source

Pubertal development and problem behaviours in Indian adolescents

International Journal of Adolescence and Youth, 2020
Pubertal status refers to the current level of physical development experienced by the adolescent relative to the overall process of pubertal change. Despite the fact that these pubertal changes are universal in nature, there are individual differences ...
Palak Kanwar
doaj   +1 more source

Longitudinal patterns of white matter fibre density and morphology in children are associated with age and pubertal stage

Developmental Cognitive Neuroscience, 2020
The pubertal period involves dynamic white matter development. This period also corresponds with rapid gains in higher cognitive functions including attention, as well as increased risk of developing mental health difficulties.
Sila Genc, Charles B. Malpas, Alisha Gulenc, Emma Sciberras, Daryl Efron, Timothy J. Silk, Marc L. Seal   +6 more
doaj   +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