Results 81 to 90 of about 359,449 (281)

Cytogenetic Analyses in Ewes with Congenital Abnormalities of the Genital Apparatus

Animals, 2019
The Disorders of Sex Development (DSDs) are congenital conditions characterized by inconsistency among chromosomal, gonadal, and anatomical sex development. The aim of this research is to report the clinical and cytogenetic findings of four DSD cases and
Sara Albarella, Emanuele D’Anza, Giacomo Galdiero, Luigi Esposito, Davide De Biase, Orlando Paciello, Francesca Ciotola, Vincenzo Peretti   +7 more
doaj   +1 more source

Impact of Disorders of Sex Development on Egyptian Parents and Factors Affecting Them

Journal of High Institute of Public Health, 2022
Background: Disorders of sex development (DSD) are a category of congenital diseases characterized by aberrant internal and external genital structure development.
Marwa Abd Elmaksoud, Hala Ali, Bayoumi Gharib, Sally S. Othman, Shaymaa Elsayed   +4 more
doaj   +1 more source

Remote Assessment of Ataxia Severity in SCA3 Across Multiple Centers and Time Points

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Spinocerebellar ataxia type 3 (SCA3) is a genetically defined ataxia. The Scale for Assessment and Rating of Ataxia (SARA) is a clinician‐reported outcome that measures ataxia severity at a single time point. In its standard application, SARA fails to capture short‐term fluctuations, limiting its sensitivity in trials.
Marcus Grobe‐Einsler, Vivian Maas, Arian Taheri Amin, Jennifer Faber, Tamara Schaprian, Katharina Hill, Matthis Synofzik, Lisa H. Graf, Heike Jacobi, Manuela Lima, Ana F. Ferreira, Bart P. van de Warrenburg, Ilse H. J. Willemse, Dagmar Timmann, Andreas Thieme, Paola Giunti, Hector Garcia‐Moreno, Magda M. Santana, Jeannette Hübener‐Schmid, Elin H. Davies, Thomas Klockgether   +20 more
wiley   +1 more source

Internet sex addiction: a review of empirical research

, 2012
The advent of the internet has added another medium in which people can engage in sexual behaviour. This ranges from the passive consumption of online pornography to the interactive exchange of sexual content in cybersex chat rooms.
Griffiths, MD
core  

Developmental associations between traits of autism spectrum disorder and attention-deficit/hyperactivity disorder: a genetically-informative, longitudinal twin study

, 2013
Background - Autism spectrum disorder (ASD) and attention deficit hyperactivity disorder (ADHD), and associated subclinical traits, regularly co-occur with one another. However, the aetiology of their co-occurrence remains poorly understood.
Ronald, Angelica, Charman, Tony; id_orcid, Plomin, R., Ronald, A, Charman, T., Happé, F, Asherson, P; id_orcid, Robinson, E.B., Asherson, P., Taylor, M J, Taylor, M.J., Plomin, R, Robinson, E B, Happé, F.   +13 more
core   +1 more source

Widespread sex differences in gene expression and splicing in the adult human brain. [PDF]

, 2013
There is strong evidence to show that men and women differ in terms of neurodevelopment, neurochemistry and susceptibility to neurodegenerative and neuropsychiatric disease. The molecular basis of these differences remains unclear. Progress in this field
Ramasamy, Adaikalavan, Ryten, Mina, Ramasamy, A, Smith, C, Ryten, M, Trabzuni, D, Walker, R, Smith, Colin, Smith, C; id_orcid, Trabzuni, Daniah, Imran, S, Weale, M, Hardy, John, ?, ?, Weale, Michael E, Hardy, J, North American Brain Expression Consortium, Weale, ME, Imran, Sabaena, Walker, Robert   +19 more
core   +1 more source

Clustering Algorithm Reveals Dopamine‐Motor Mismatch in Cognitively Preserved Parkinson's Disease

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective To explore the relationship between dopaminergic denervation and motor impairment in two de novo Parkinson's disease (PD) cohorts. Methods n = 249 PD patients from Parkinson's Progression Markers Initiative (PPMI) and n = 84 from an external clinical cohort.
Rachele Malito, Chiara Meneghini, Alice Galli, Luca Gallo, Pierfrancesco Mitrotti, Paola Dimartino, Marianna Inglese, Cinzia Zatti, Alessandro Lupini, Andrea Pilotto, Alessandro Padovani, Micol Avenali, Enza Maria Valente, Cristina Tassorelli, Silvia P. Caminiti   +14 more
wiley   +1 more source

Unclassified complex urogenital anomaly in a 3-year-old girl: Diagnostic and surgical challenges

Urology Case Reports
Complex urogenital malformations are rare congenital anomalies that often escape existing classification systems due to marked anatomical variability. We describe a previously unreported urogenital malformation.A 3-year-old girl presented with ambiguous ...
Ilaria Manghi, Tommaso Gargano, Francesca Ruspi, Michela Maffi, Michele Libri, Marcello Domini   +5 more
doaj   +1 more source

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

Brainstem and Cerebellar Volume Loss and Associated Clinical Features in Progressive Supranuclear Palsy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Introduction Progressive Supranuclear Palsy (PSP) is a neurodegenerative ‘tauopathy’ with predominating pathology in the basal ganglia and midbrain. Caudal tau spread frequently implicates the cerebellum; however, the pattern of atrophy remains equivocal.
Chloe Spiegel, Timothy P. Siejka, Cassandra Marotta, Josh J. Y. Lee, Kelly Bertram, Terence J. O'Brien, Meng Law, Lucy Vivash, Ian H. Harding   +8 more
wiley   +1 more source