Neuromuscular ultrasound is an emerging technology for the evaluation of conditions affecting nerve and muscle, with the majority of research focusing on focal neuropathies. Despite this focus, researchers have also investigated the ultrasonographic changes that occur in the nerves and muscles of those with more diffuse polyneuropathies and motor neuron diseases, and this review will detail the findings in these conditions. Specific findings are discussed in this paper, but general themes will also be presented and include the following: hereditary polyneuropathies show diffuse nerve enlargement whereas immune-mediated polyneuropathies show more patchy involvement; nerve enlargement is more profound in demyelinating than axonal polyneuropathies; and muscle changes in motor neuron diseases include heterogeneous increases in echogenicity, atrophy, readily detectable fasciculations, and increased subcutaneous tissue thickness.
This study investigates mental health and substance use problems associated with gambling among Canadian emerging adults (ages 18–20 years). Drawing on a cross-sectional wave of 624 (47.8% male) participants from the Manitoba Longitudinal Study of Young Adults, our findings suggest that among emerging adults, problem gambling should be understood as part of a wider syndrome. The profile of syndromic associations varies with both problem gambling risk level and gender. With respect to risk level, regression models indicate that, relative to no-risk gamblers, lower risk gamblers are more likely to use drugs and alcohol, whereas higher risk gamblers report greater symptoms of depression and anxiety. Males and females present different barriers to recovery: High-risk female gamblers are more likely to rely on escape-avoidance coping mechanisms, whereas their male counterparts tend to lack perceived social support. Given the centrality of these two variables and the lack of literature addressing how they interact, we conclude that further research is needed to understand how gender and gambling severity interact to simultaneously influence gambling-related behaviours among emerging adults. RésuméCette étude porte sur les problèmes de santé mentale et de toxicomanie associés au jeu chez les jeunes adultes canadiens (âgés de 18 à 20 ans). Fondés sur une vague transversale de 624 participants (47,8% d’hommes) de l’étude longitudinale des jeunes adultes du Manitoba (MLSYA), nos résultats laissent entendre que, parmi les jeunes adultes, le jeu problématique devrait être abordé comme faisant partie d’un syndrome plus vaste. Le profil des associations syndromiques varie selon le niveau de risque de jeu problématique et le genre. En ce qui concerne le niveau de risque, les modèles de régression indiquent que, par rapport aux joueurs sans risque, les joueurs à faible risque sont plus susceptibles de consommer de la drogue et de l’alcool, tandis que les joueurs à risque plus élevé montrent des symptômes plus importants de dépression et d’anxiété. En parallèle, les hommes et les femmes rencontrent différents obstacles au rétablissement : les joueuses à haut risque sont plus susceptibles de compter sur des mécanismes d’adaptation comme l’échappement ou l’évitement, tandis que leurs homologues masculins ont tendance à manquer de soutien social perçu. Compte tenu de la centralité de ces deux variables et du manque de littérature traitant de leurs interactions, nous concluons qu’il est nécessaire de poursuivre les recherches pour comprendre les interactions entre le genre et la gravité du jeu pathologique afin d’influencer simultanément les comportements liés au jeu chez les jeunes adultes.
ObjectiveTo describe a family with primary familial brain calcifications (PFBCs) and leukoencephalopathy associated with a novel variant in PDGFB.MethodsWe present 3 generations of a family with PFBC associated with a previously unreported variant in PDGFB.ResultsA 24-year-old woman with migraine, bipolar disorder, and functional neurologic disorder was found to have bilateral calcifications of the basal ganglia and frontally predominant periventricular white matter disease. Her father had mild cognitive impairment and action tremor of the hands with basal ganglia and cerebellar calcifications found incidentally on head CT. Her paternal grandmother had severe parkinsonism and dementia with calcifications of the basal ganglia and cerebellum and diffuse, confluent periventricular white matter disease. Genetic testing in both the proband and her father revealed a PDGFB variant (NM_002608.3:c.298C>T:p.Arg100Cys) not reported in publicly available databases. Multiple in silico analysis tools support pathogenicity.DiscussionOur report identifies a novel PDGFB variant associated with PFBC and highlights the rare association of leukoencephalopathy with PDGFB-associated PFBC.
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