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Rapid identification of primary atopic disorders (PAD) by a clinical landmark-guided, upfront use of genomic sequencing.
Allergol Select
October 2024
Center for Child and Adolescent Health, Helios Hospital Krefeld, Academic Hospital of RWTH Aachen, Krefeld.
Article Synopsis
- Primary atopic disorders (PAD) are rare genetic conditions caused by specific gene variants that affect skin and immune function, making diagnosis challenging among common allergic disease cases.
- Identifying PAD requires recognizing clinical red flags like family history and unusual infections, as conventional lab tests are inadequate for definitive diagnosis.
- Whole-genome sequencing (WGS) enhances diagnostic efficiency and accuracy, but requires careful interpretation and collaboration among specialists to effectively manage PAD cases.
Role of genetic investigation in the diagnosis of short stature in a cohort of Italian children.
J Endocrinol Invest
May 2024
Pediatric Division, Department of Pediatrics, University Hospital of Verona (Full Member of European Reference Network Endo-ERN), Verona, Italy.
Article Synopsis
- Short stature (SS) refers to children who are significantly shorter than their peers and can be caused by various medical conditions, including genetic factors.
- Researchers used next-generation sequencing (NGS) to investigate the genetic causes of SS in 125 Italian children with unknown origins of their condition.
- The study found 43 potentially harmful genetic variants in 38 children, with some diagnosed with specific syndromic conditions, highlighting the importance of genetic analysis for accurate diagnosis and personalized treatment.
Clinical profile and aetiologies of delayed puberty: a 15 years' experience from a tertiary centre in Sudan.
J Pediatr Endocrinol Metab
July 2022
Paediatric Endocrinology Unit, Gaafar Ibn Auf Children's Hospital, Khartoum, Sudan.
Objectives: Delayed puberty is a common presentation to endocrine clinics, with adult height, sexual capability and fertility being the main concerns for the child and his/her family. Presentation is variable including short stature and/or absence of secondary sexual characteristics. The aetiology can either be constitutional, functional or permanent hypogonadotropic hypogonadism, permanent hypergonadotropic hypogonadism or unclassified.
View Article and Find Full Text PDFDelphi consensus on the diagnosis and treatment of patients with short stature in Spain: GROW-SENS study.
J Endocrinol Invest
April 2022
Paediatric Endocrinology Unit, Paediatric Department., Hospital Universitario Miguel Servet, Instituto de Investigación Sanitaria de Aragón, Zaragoza, Spain.
Purpose: To identify consensus aspects related to the diagnosis, monitoring, and treatment of short stature in children to promote excellence in clinical practice.
Methods: Delphi consensus organised in three rounds completed by 36 paediatric endocrinologists. The questionnaire consisted of 26 topics grouped into: (1) diagnosis; (2) monitoring of the small-for-gestational-age (SGA) patient; (3) growth hormone treatment; and (4) treatment adherence.
Prevalence of combined growth hormone deficiency and celiac disease among Saudi Arabian children with short stature: a tertiary care center experience.
Chin Med J (Engl)
March 2020
Department of Pediatrics, Faculty of Medicine, King Abdulaziz University, Jeddah 21589, Saudi Arabia.
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