Results 41 to 50 of about 3,357,239 (197)

Controversies in the Definition and Treatment of Idiopathic Short Stature (ISS) [PDF]

Journal of Clinical Research in Pediatric Endocrinology, 2011
The term idiopathic short stature (ISS) refers to short children with no identifiable disorder of the growth hormone (GH)/insulin like growth factor (IGF) axis and no other endocrine, genetic or organ system disorder. This heterogeneous group of short children without GH deficiency (GHD) includes children with constitutional delay of growth and puberty,
Pedicelli S, Peschiaroli E, Violi E, CIANFARANI, STEFANO   +3 more
openaire   +3 more sources

An Adult Presentation of KIF11‐Related MCLID Syndrome: Case Report and 40‐Year Follow‐Up

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Pathogenic variants in KIF11 are linked to autosomal dominant syndromes with microcephaly, chorioretinopathy, lymphedema, and intellectual disability (MCLID), though adult presentations remain underreported. We report a 42‐year‐old female presenting with a de novo single‐amino acid in‐frame deletion in the KIF11 gene (c.1294_1296del; p ...
Thrishna Chathurvedula, Juvy Rabelas, Kareem Touleimat, Elaine Marchi, Ruhi Shah, Shaydah Kheradmand, Kuldeep Singh, Karen Amble, Gholson J. Lyon   +8 more
wiley   +1 more source

From Interferon Signature to the Clinical Landscape: Type I Interferonopathies

Arthritis &Rheumatology, EarlyView.
Objective TypeI interferonopathies are heterogeneous diseases driven by dysregulated type I interferon (IFN‐I) signaling. Diagnosis is challenging due to clinical/molecular variability and the need for IFN‐I quantification. The aim of this study was to characterize the clinical, immunologic, genetic, molecular profiles of patients with suspected ...
Ismail Yaz, Seza Ozen, Hacer Neslihan Bildik, Canberk Ipsir, Dilara Unal, Saliha Esenboga, Begum Cicek, Mehmet Emin Seker, Fatima Aerts‐Kaya, Seher Sener, Mehmet Orhan Erkan, Hanife Avci, Deniz Cagdas, Ilhan Tezcan   +13 more
wiley   +1 more source

Ectopic Neurohypophysis: Report of Two Cases

Endocrinology Research and Practice, 2022
A 24-year-old boy and a 19-year-old girl were referred to our clinic with idiopathic short stature and multiple pituitary hormone deficiencies. Case 1 presented with short stature, hypogonadism and hypocortisolism while the second case had hypothyroidism
Neslihan Başcıl Tütüncü, Nilgün Güvener Demirağ, Tomris Erbaş, Olcay Gedik   +3 more
doaj   +2 more sources

Familial idiopathic short stature and beyond: a case-report of a novel heterozygous NPR2 mutation.

Atti della Accademia Peloritana dei Pericolanti - Classe di Scienze Medico-Biologiche
Background: NPR2 gene encodes for B-type natriuretic peptide receptor (NPR-B), a positive regulator of the growth plate. Recently, heterozygous NPR2 mutations were reported in 2–6% cases of idiopathic short stature (ISS) and 13.6% of familial ISS ...
Ylenia Giorgianni, Cecilia Lugarà, Francesca Franchina, Mariella Valenzise, Giorgia Pepe, Tommaso Aversa   +5 more
doaj   +1 more source

KBG syndrome: A scoping review of electroclinical features of patients with epilepsy

Epileptic Disorders, EarlyView.
Abstract Background and Objectives KBG syndrome is a rare autosomal developmental disorder caused by pathogenic variants of the ANKRD11 gene. This scoping review aimed to explore all current literature data regarding clinical and electroencephalographic features of patients with KBG syndrome and epilepsy. Materials and Methods We conducted a literature
Stefania Kalampokini, Evripidis Pityrigkas, Zoi Kallia, Georgia Pepe, Antonis Frontistis, Dimitrios Profer, Vasilios Kimiskidis   +6 more
wiley   +1 more source

Idiopathic Short Stature: Conundrums of Definition and Treatment [PDF]

International Journal of Pediatric Endocrinology, 2009
Children with idiopathic short stature (ISS) are statistically defined by height SDS < -2 for their bone age and should be distinguished from children with familial short stature for whom height SDS corresponds to mean parental SDS and from the most common explanation for short stature referred to pediatric endocrinologists, constitutional delay in ...
openaire   +2 more sources

Baseline characteristics of patients on growth hormone therapy: Experience of two centers from South India

Journal of Dr. NTR University of Health Sciences, 2015
Objective: The objective of this study is to determine the age at presentation, etiology and other characteristics of short children who are on growth hormone therapy (GHT) at a tertiary care hospital.
Babulreddy Hanmayyagari, Mounika Guntaka, Sunitha Chadalavada, Voleti Sri Nagesh, Sudhakar Reddy Pendyala, Sridevi Patnala   +5 more
doaj   +1 more source

A Leri-Weill dyschondrosteosis patient confirmed by mutation analysis of gene [PDF]

Annals of Pediatric Endocrinology & Metabolism, 2015
Leri-Weill dyschondrosteosis is characterized by SHOX deficiency, Madelung deformity, and mesomelic short stature. In addition, SHOX deficiency is associated with idiopathic short stature, Turner syndrome, and Langer mesomelic dysplasia.
Won Bok Choi, Seung Hyeon Seo, Woo Hyun Yoo, Su Young Kim, Min Jung Kwak   +4 more
doaj   +1 more source

Impact of Age and Nerve Impairment Interaction on Bell's Palsy Prognosis

The Laryngoscope, EarlyView.
This study investigated the prognostic impact of the interaction between aging and nerve impairment severity in 181 patients with Bell's palsy. Although age alone was not an independent predictor, the interaction between older age (≥ 65 years) and a Nerve Excitability Test threshold difference (≥ 3.5 mA) significantly increased the risk of incomplete ...
Hiroyuki Yamada, Miyuki Oshita, Takemichi Tanaka, Shota Miyaji, Takuya Kimura, Shinji Iwata, Ryota Takagi, Naohito Hato   +7 more
wiley   +1 more source