Results 1 to 10 of about 6,199 (168)

Achondroplasia

Nursing Children and Young People, 2016
Achondroplasia, like all syndromes, is recognised by a collection of typical anomalies. It is a cause of short stature; the average adult height being about 4 feet.
Doreen, Crawford, Annette, Dearmun
openaire   +3 more sources

A STUDY OF ACHONDROPLASIA [PDF]

Archives of Pediatrics and Adolescent Medicine, 1920
INTRODUCTION Ita P. appeared in the orthopedic outpatient department of the Children's Hospital for treatment because of a "bunch" on her back. As usual, a roentgen-ray examination was made. The plates showed widely separated vertebral bodies with a peculiar wedge-shaped vertebra at the point of the "bunch." As this did not seem to be due to any of ...
openaire   +1 more source

Cross Sectional Study of Prenatal Diagnosis Uptake Among Individuals With Genetic Conditions

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective Prenatal diagnostic genetic testing allows for early identification of significant fetal conditions and enables informed decision‐making regarding management options. The aim of this study was to assess prenatal testing practice among individuals with genetic conditions.
Ebunoluwa Ojo, Roni Zemet, Allyson Nevins, Katherine Abraham, April D. Adams   +4 more
wiley   +1 more source

Prenatal Spectrum of COL2A1‐Related Spondyloepiphyseal Dysplasia Congenita: A Review and Two Case Reports

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective To review the published literature on prenatal findings of COL2A1‐related SEDC, summarizing reported imaging and molecular variants, and to describe two additional prenatal cases evaluated at a tertiary referral center. Method A narrative review with a systematic search strategy was conducted to analyze prenatal imaging findings ...
López‐Rodríguez Larissa, León‐Madero Luis Felipe, Jiménez‐Chaidez Salvador, Gallardo‐Gaona Juan Manuel, Rodríguez‐Sibaja María Jose, Castañeda‐de‐la‐Fuente Angelica, Del Castillo‐Reyes Katia Alejandra, Yañez‐Felix Ana Lucia, Morales‐Dominguez Valeria, Borboa‐Olivares Héctor Jesús, Sevilla‐Montoya Rosalba   +10 more
wiley   +1 more source

New biosensors and transgenic mice for multiplex cGMP imaging

British Journal of Pharmacology, EarlyView.
Background and Purpose Cyclic guanosine monophosphate (cGMP) is a versatile second messenger that is important for human (patho‐)physiology and pharmacotherapy. Live‐cell imaging of cGMP with biosensors allows to elucidate its spatiotemporal dynamics in real time under close‐to‐native conditions. However, to monitor two separate cGMP pools or cGMP/cAMP
Markus Wolters, Martin Thunemann, Barbara Birk, Susanne Feil, Viacheslav O. Nikolaev, Moritz Lehners, Robert Feil   +6 more
wiley   +1 more source

An intracellular recombinant single‐chain variable antibody fragment as a new class of phosphodiesterase type 5 inhibitors

British Journal of Pharmacology, EarlyView.
Background and Purpose Cyclic guanosine monophosphate (cGMP) is a ubiquitous second messenger involved in human (patho‐)physiology. Phosphodiesterase 5 (PDE5) is a major cGMP hydrolyzing enzyme in many cell types including vascular smooth muscle cells (VSMCs). Several highly selective PDE5 inhibitors are in clinical use. However, there are currently no
Kürsat Kirkgöz, Sophie Sprenger, Olga Schweigert, Sanika Mohagaonkar, Matti Walsdorff, Tanja Zeller, Filip Berisha, Viacheslav O. Nikolaev, Sergei D. Rybalkin   +8 more
wiley   +1 more source

A Practical Guide to Chromosome Microarray Interpretation for Paediatricians

Journal of Paediatrics and Child Health, EarlyView.
ABSTRACT Introduction Chromosome microarray (CMA) is a test commonly ordered by general paediatricians. It has diagnostic yield between 10%–15% in individuals with neurodevelopmental delay, autism and/or multiple congenital abnormalities. CMA identifies copy number variants (CNV) including deletions and duplications, which may be pathogenic, variants ...
Zachary E. McPherson, Margit Shah, Sarah Josephi‐Taylor, Brieana Dance, Benjamin Nash, Luke St Heaps, Dale Wright, Janette Hayward, Christopher Elliot, Joshua Steadson, Alan Ma   +10 more
wiley   +1 more source

Pathways to enhancing prenatal diagnosis of skeletal dysplasias

Pregnancy, Volume 2, Issue 3, May 2026.
Abstract Skeletal dysplasias are a group of Mendelian disorders that variably alter the development of the musculoskeletal system and phenotypically range from mild short stature syndromes to severe perinatal or neonatal morbidity. Prenatal diagnosis of these conditions can be challenging due to the lack of precision with ultrasound imaging compared to
Michelle Joy Wang, Christina Jacobsen, Jennifer Arnold, Ronald J. Wapner, Deborah Krakow   +4 more
wiley   +2 more sources

Orthodontic and Maxillofacial Surgery Treatment in Achondroplasia for Orofacial Alterations: A Systematic Review and Preliminary Age‐Stratified Guidelines

Orthodontics &Craniofacial Research, EarlyView.
ABSTRACT This systematic review aimed to collect and appraise the clinical outcomes of all orthopaedic, orthodontic and surgical interventions in ACH patients. Following PROSPERO protocol, multiple database sources were searched to December 2024 with no language restrictions for (i) genetically confirmed ACH; (ii) any orthodontic/orthopaedic ...
Marco Farronato, Maria Francesca Bedeschi, Cristina Grippaudo, Gianluca Martino Tartaglia, Berardo Rinaldi, Cinzia Maspero   +5 more
wiley   +1 more source

Periodontal and orthodontic management of impacted canines

Periodontology 2000, EarlyView.
Abstract The maxillary and mandibular canines are described by many clinicians as the “cornerstone” of the arch. When in their optimal position, they play a critical role in providing a well‐balanced occlusal scheme that contributes toward functional as well as neuromuscular stability, harmony, esthetics, and dentofacial balance.
Mohammad Qali, Chenshuang Li, Chun‐Hsi Chung, Nipul Tanna   +3 more
wiley   +1 more source