A Rare Presentation of Disorder of Sex Development. [PDF]
Cureus, 2021 Ashfaq S, Siddiqui A, Shafiq W, Azmat U.
europepmc +1 more source
Bi‐ and Mono‐Allelic RFC1 Expansion in a North American Cohort With Idiopathic Axonal Neuropathy
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective RFC1 biallelic repeat expansion is increasingly recognized as a cause of chronic idiopathic axonal polyneuropathy (CIAP), but it remains challenging to know who to test. This study aims to determine the prevalence of biallelic and monoallelic RFC1 expansions and their corresponding neuropathy phenotypes in CIAP patients and identify ...
Amro M. Stino +25 more
wiley +1 more source
Digital Cognitive Testing in Mitochondrial Disease: Validity and Challenges for Clinical Trial Use
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Background Primary mitochondrial disease is a group of genetic disorders caused by pathogenic variants in nuclear or mitochondrial DNA, often resulting in progressive neurodegeneration and cognitive decline. Current management is primarily supportive, though recent research offers hope for disease‐modifying treatments in the future.
Oksana Pogoryelova +9 more
wiley +1 more source
<i>SRY</i>-positive 46,XX testicular disorder of sex development in adult monozygotic twins. [PDF]
JCEM Case RepPantović V +4 more
europepmc +1 more source
Canal of Nuck hernia containing the internal reproductive organs of both gender in a neonate with disorder of sex development: a rare case presentation. [PDF]
BJR Case Rep, 2023 Attia KH +3 more
europepmc +1 more source
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Building on our prior Behavioral Risk Factor Surveillance System analysis identifying adults aged 18–39 as the primary driver of the national increase in self‐reported cognitive disability, we examined factors associated with this rise using 2013–2024 U.S. BRFSS data. Methods We analyzed U.S.
Adam de Havenon +9 more
wiley +1 more source
Ovotesticular Disorder of Sex Development: Approach and Management of an Index Case in the Dominican Republic. [PDF]
Cureus, 2021 De Jesus Escano MR +4 more
europepmc +1 more source
Characterizing Cutaneous α‐Synuclein Deposition and Seeding Activity in Parkinson's Disease Subtypes
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Cutaneous phosphorylated α‐synuclein (p‐syn) and α‐synuclein seeding activity are promising biomarkers for Parkinson's disease (PD), but their clinical value remains uncertain due to disease heterogeneity. This study evaluates these two biomarkers in PD patients to inform phenotype‐specific diagnosis and disease severity assessment ...
Yuting Jin +8 more
wiley +1 more source
Influence of sex on temporomandibular disorder pain: a review of occurrence and development
e aim of this study was to develop a narrative literature review using international research to present the influence of sex on occurrence and development of temporomandibular disorder (TMD) pain.
Ana Paula Botelho; Maria Cecília Ferraz de Arruda Veiga
core
The importance of genetic research in cases of severe male factor infertility: A case of 46,XX testicular disorder of sex development. [PDF]
JBRA Assist Reprod, 2022 Faleiro D, Iser B, Silva AAD, Höher MA.
europepmc +1 more source