Results 91 to 100 of about 167,426,214 (275)

Parental Reports of Stigma Associated with Child’s Disorder of Sex Development

International Journal of Endocrinology, 2015
Disorders of sex development (DSD) are congenital conditions in which chromosomal, gonadal, or anatomic sex development is atypical. DSD-associated stigma is purported to threaten positive psychosocial adaptation.
Aimee M. Rolston, Melissa Gardner, Eric Vilain, David E. Sandberg   +3 more
doaj   +1 more source

A Rare Etiology of 46,XY Disorder of Sex Development and Adrenal Insufficiency: A Case of MIRAGE Syndrome Caused by Mutations in the SAMD9 Gene

JCRPE, 2020
Adrenal hypoplasia is a rare congenital disorder. In spite of biochemical and molecular genetic evaluation, etiology in many patients with adrenal hypoplasia is not clear.
Eda Mengen, Aynur Küçükçongar Yavaş, S. Ahmet Uçaktürk   +2 more
doaj   +1 more source

Five‐Year Outcomes of Laparoscopic Sphincter‐Preserving Surgery for Rectal Cancer: A Prospective Study in Elderly Vietnamese Patients

Aging and Cancer, EarlyView.
This prospective study demonstrates that laparoscopic sphincter‐preserving surgery is feasible for elderly patients. While overall survival reaches 70% at 5 years, advanced T‐stage and the omission of neoadjuvant therapy significantly drive recurrence, highlighting the need for personalized geriatric protocols despite logistical challenges.
Huu Duc Ho, Quang Le, Ngoc Thach Tran, Van Viet Ung, Loc Vu   +4 more
wiley   +1 more source

A Duplication Upstream of SOX9 Associated with SRY Negative 46,XX Ovotesticular Disorder of Sex Development: A Case Report

JCRPE, 2020
The 46,XX ovotesticular disorder of sex development (DSD) is rarely observed in humans. This disorder is generally described as ambiguous genitalia with the presence of ovarian and testicular tissues in different gonads or in the same gonad.
Eda Mengen, Gülsüm Kayhan, Pınar Kocaay, Seyit Ahmet Uçaktürk   +3 more
doaj   +1 more source

Elevated Connectivity During Language Processing Is Associated With Cognitive Performance in SeLECTS

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Self‐Limited Epilepsy with Centrotemporal Spikes (SeLECTS) is associated with language impairments despite seizures originating in the motor cortex, suggesting aberrant cross‐network interactions. Here we tested whether functional connectivity in SeLECTS during language tasks predicts language performance.
Wendy Qi, Katharine Lee, Kerry C. Nix, Miguel Menchaca, Xiwei Shé, Lorelei Santa Maria, Wei Wu, Zihuai He, Fiona M. Baumer   +8 more
wiley   +1 more source

SPG4 and Dementia: Expanding the Clinical Spectrum

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Hereditary spastic paraplegia (HSP) is a group of disorders characterized by progressive spasticity and lower limb weakness, with mutations in SPG4/SPAST being the most common cause. Detailed studies and clinical and molecular comparisons across different populations are missing.
Emanuele Panza, Arun Meyyazhagan, Eliseo Picchi, Gustavo Ribas, Ingrid Faber, Ryosuke Miyamoto, Preethi Basavaraju, Paolo Eusebi, Haripriya Kuchi Bhotla, Mario Stasi, Fabrizio Gaudiello, Francesco Patti, Filippo Maria Santorelli, Marcondes Cavalcante França Jr, José Luiz Pedroso, Orlando Graziani Povoas Barsottini, Hélio Afonso Ghizoni Teive, Peter Henry St George‐Hyslop, Toshitaka Kawarai, Antonio Orlacchio   +19 more
wiley   +1 more source

Clinical Outcomes of SEEG‐Guided Radiofrequency Thermocoagulation in Children With Focal Drug‐Resistant Epilepsy: A Multicenter Real‐World Study

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Stereoelectroencephalography‐guided radiofrequency thermocoagulation (SEEG‐RFTC) has emerged as a safe and effective minimally invasive treatment for children with drug‐resistant focal epilepsy. Although evidence from real‐world studies remains limited, numerous pediatric cases have demonstrated promising outcomes. This retrospective
Weitao Chen, Stéphane Jean, Weihong Liu, Yihai Dai, Xinrong Fang, Xiaoqiang Wei, Shan Chen, Shiwei Song   +7 more
wiley   +1 more source

Two-Stage Urethroplasty with Buccal Mucosa for Penoscrotal Hypospadias Reconstruction in a Male with a 46,XX Karyotype

Urology Case Reports, 2017
We present a case regarding a 32-year old African male with penoscrotal hypospadias, left cryptorchidism and a left inguinal hernia. There were moderate masculinization characteristics.
Pieter D'hulst, Jochen Darras, Steven Joniau, Pieter Mattelaer, Linsey Winne, Diederik Ponette   +5 more
doaj   +1 more source

Relationship Between Neurologic Symptoms and Signs and FMR1 Genotype in Premutation Carriers

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background and Objectives Fragile X‐associated Tremor/Ataxia Syndrome (FXTAS) is the most severe late‐onset condition caused by a premutation in the FMR1 gene, characterized by expanded CGG triplet repeats of 55–200. Clinical presentations of FXTAS, including gait ataxia, kinetic tremor, cognitive decline, and rare Parkinsonism, are linked to ...
Flora Tassone, Freddy Chafota, Miguel E. Rentería, Randi J. Hagerman, Ellery Santos, Anna Atkinson, Nicholas G. Martin, Elsdon Storey, Danuta Z. Loesch   +8 more
wiley   +1 more source

[18F]Fluorodeprenyl‐D2 PET as a Tool to Monitor Disease Activity in GAD65‐Ab Autoimmune Encephalitis

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective To evaluate [18F]fluorodeprenyl‐D2 ([18F]F‐DED) positron‐emission tomography (PET) imaging as a biomarker of disease activity in autoimmune encephalitis (AIE) associated with glutamic acid decarboxylase 65 (GAD65) antibodies. Methods [18F]F‐DED PET was performed in 25 GAD65‐AIE patients and 8 controls using dynamic (0–60 min) and ...
Julia S. Dorneich, Jonathan A. Gernert, Hanna Zimmermann, Lisa Tagnin, Marianthi Zeinaki, Laura Sanzo, Letizia Vogler, Elisabeth Kaufmann, Justina Dargvainiene, Frank Leypoldt, Gérard N. Bischof, Robert Perneczky, Boris‐Stephan Rauchmann, Simon Lindner, Günter U. Höglinger, Rudolf A. Werner, Martin Kerschensteiner, Tania Kümpfel, Matthias Brendel, Franziska S. Thaler   +19 more
wiley   +1 more source