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Baller–Gerold syndrome is inherited in an autosomal recessive pattern of inheritance, meaning that an affected child gets one mutant allele from each parent to produce the syndrome. [2] A carrier is someone who has one mutant allele but does not does have any symptoms. If both parents are carriers, there is a 25% chance the child will have BGS.
Baló's concentric sclerosis is a disease in which the white matter of the brain appears damaged in concentric layers, leaving the axis cylinder intact. [1] It was described by József Mátyás Baló who initially named it "leuko-encephalitis periaxialis concentrica" from the previous definition, [2] and it is currently considered one of the borderline forms of multiple sclerosis.
Reward deficiency syndrome [74] [75] (RDS) is a term that has been applied to a wide variety of addictive, obsessive and compulsive behaviors including substance and process addictions, and personality and spectrum disorders. [76] [77] There is no consistent evidence to validate any such syndrome. [78] "
Fifty years after the hostage situation that gave the syndrome its name, Sheila Flynn reports on how minds have changed — and how police may have avoided criticism by pathologizing a victim
Bálint's syndrome symptoms can be quite debilitating since they impact visuospatial skills, visual scanning and attentional mechanisms. [8] Since it represents impairment of both visual and language functions, it is a significant disability that can affect the patient's safety—even in one's own home environment, and can render the person incapable of maintaining employment. [9]
Osteogenesis imperfecta (IPA: / ˌ ɒ s t i oʊ ˈ dʒ ɛ n ə s ɪ s ˌ ɪ m p ɜːr ˈ f ɛ k t ə /; [4] OI), colloquially known as brittle bone disease, is a group of genetic disorders that all result in bones that break easily.
In the most basic sense, there are four possible outcomes for a COVID-19 test, whether it’s molecular PCR or rapid antigen: true positive, true negative, false positive, and false negative ...
The discovery that the gene defect in Blau syndrome involves the CARD15/NOD2 gene has sparked investigation into its function as part of the innate immune system. The innate immune system recognizes pathogen-associated molecular patterns, including bacterial polysaccharides such as muramyl dipeptide, via its pattern recognition receptors, such as NOD2, to induce signaling pathways that ...