Results 71 to 80 of about 17,949 (246)

Class III malocclusion: an argument for early orthodontic treatment

Dentistry 3000, 2017
Class III malocclusion is a complex multifactorial condition with many genetic and environmental influences. Most often the condition is inherited in a Mendelian autosomal dominant pattern.
Eric Moe
doaj   +1 more source

Triallelic inheritance: a bridge between Mendelian and multifactorial traits

Annals of Medicine, 2004
The increasing identification of disease genes is revealing a growing number of traits that fail to conform to traditional Mendelian paradigms, thereby creating new challenges to both genetic investigators and clinicians. Bardet-Biedl syndrome (BBS) is one such disorder that has helped to define 'oligogenic' inheritance, a term that implies that some ...
Erica R, Eichers, Richard Alan, Lewis, Nicholas, Katsanis, James R, Lupski   +3 more
openaire   +2 more sources

Monogenic and syndromic obesity in children: Clinical recognition, genetics, and precision management

Pediatric Investigation, EarlyView.
Monogenic and syndromic obesity in children often arises from defects in the leptin–melanocortin pathway. Understanding these rare genetic causes not only clarifies mechanisms of appetite regulation but also enables precision therapies, offering hope beyond lifestyle interventions.
Hadel Khalil, Eugene Feigin, Hussein Zaitoon   +2 more
wiley   +1 more source

Familial müllerian agenesis

The Turkish Journal of Pediatrics, 2000
Müllerian agenesis is characterized by the absence of the fallopian tubes, uterus and internal portion of the vagina. Patients have normal female phenotype and genotype, with normal secondary sex characteristics but with amenorrhea.
F Tiker, S V Yildirim, O Barutçu, T Bağiş   +3 more
doaj  

The transformative potential of artificial intelligence in pediatric medicine: Current applications, methodological challenges, and future directions

Pediatric Investigation, EarlyView.
Artificial intelligence (AI) offers transformative potential for paediatric diagnosis and treatment, yet implementation faces unique challenges, including data scarcity, algorithmic bias, and children's developmental physiology. This review examines current applications and charts a path toward transparent, equitable, and trustworthy AI in child health.
Ruisong Wang, Xiaoman Ding, Wanyue Zhang, Tieliu Shi   +3 more
wiley   +1 more source

GENETIC ASPECTS OF ADULT OBESITY FORMATION

Медицина в Кузбассе, 2023
Obesity is a multifactorial disease, and the genetic component occupies an important place in its pathogenesis. One of the most studied and closely associated with monogenic obesity is the FTO (fat mass and obesity associated) gene.
Варвара Ивановна Минина, Анастасия Александровна Яковлева, Анастасия Валерьевна Понасенко, Ольга Александровна Соболева, Анастасия Владимировна Торгунакова, Елена Александровна Киселева, Лидия Александровна Варич, Татьяна Андреевна Толочко, Анна Дмитриевна Веснина, Игорь Анатольевич Те, Яна Александровна Захарова   +10 more
doaj  

Atypical presentation of Goldenher syndrome- a rare scenario

Journal of College of Medical Sciences-Nepal, 2014
In 1952 Goldenher described a case with triad of pre auricular tags, mandibular hypoplasia and ocular (epibulbar) dermoid and described the case as Goldenger Syndrome. Exact etiology of this disease is not known.
C Lath, S Sen, M Mondal, D Maiti, R Singh, R Bose   +5 more
doaj   +1 more source

Epistemic diversity and the politics of knowledge in plant disease management: Insights from the Xylella fastidiosa epidemic in southern Italy

PLANTS, PEOPLE, PLANET, EarlyView.
Xylella fastidiosa is a major plant pathogen affecting crops such as grapes, citrus, almonds, and olives, with potentially severe consequences for agricultural production and rural livelihoods worldwide. This paper examines the conflict around the management of the X. fastidiosa outbreak affecting olive trees in southern Italy.
Fabio Gatti, David Ludwig, Phil Macnaghten   +2 more
wiley   +1 more source

Integrated Clinical Trial and Molecular Profiling Reveals Immune Drivers of Chronic Hand Eczema

Allergy, EarlyView.
This study performed an unbiased molecular profiling of CHE patients across diverse etiologies to identify shared pathogenic drivers and evaluate the impact of IL‐4Rα blockade via dupilumab over 16 weeks. CHE shows a mixed immune signature involving type 1, 2, and 3 pathways with features of atopic dermatitis and psoriasis.
Perrine Gery, Rüçhan Ekren, Emilie Bérard, Aurélie Du‐Thanh, Hugo Rimet, Fatma Jendoubi, Vanina Lenief, Nadia Raison‐Peyron, Amel Bouznad, Maria P. Konstantinou, Jonathan Rioual, Lilian Basso, Juliette Mouiren, Manon Boussier, Brigitte Milpied, Cristina Bulai Livideanu, Louise Jaulent, Florence Hacard, Marine A. Lefevre, Audrey Nosbaum, Julien Seneschal, Marc Vocanson, Carle Paul, Nicolas Gaudenzio, Marie Tauber, on behalf of the French Atopic Dermatitis Network from de GREAT Research group   +25 more
wiley   +1 more source

Prenatal exome sequencing of fetuses with central nervous system anomalies based on prenatal ultrasound and magnetic resonance imaging diagnosis: A retrospective cohort study with a systematic review and meta‐analysis

Acta Obstetricia et Gynecologica Scandinavica, EarlyView.
Prenatal exome sequencing significantly improves diagnostic yield over chromosomal microarray analysis for fetal CNS abnormalities, with a diagnostic yield of 16% in our cohort and 27% in the meta‐analysis. Diagnostic yields vary across different phenotypes. Abstract Introduction Fetal central nervous system (CNS) abnormalities have diverse etiologies,
Jia Yao, Yan Wang, Gang Li, Zhitao Zhang, Yuan Lv, Lizhu Chen   +5 more
wiley   +1 more source