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Other Neurologic Diseases in Pregnancy
Published in Vincenzo Berghella, Maternal-Fetal Evidence Based Guidelines, 2022
Loralei L. Thornburg, Meredith L. Birsner
Patients with neurologic disease who are contemplating pregnancy should undergo preconception counseling. Most neurologic disease does not affect fertility, and those wishing to avoid pregnancy should use contraception. If a disease is congenital or hereditary in origin, this should additionally include then genetic counseling. All patients should take the standard of at least 400 mg of folic acid preconception.
Case 12
Published in Andrew Solomon, Julia Anstey, Liora Wittner, Priti Dutta, Clinical Cases, 2021
Andrew Solomon, Julia Anstey, Liora Wittner, Priti Dutta
Nerve conduction studies are useful in that they might allow you to distinguish between demyelinating and axonal neuropathies. Studies can also suggest whether the syndrome is likely to be hereditary or acquired.
Diseases of the Peripheral Nerve and Mononeuropathies
Published in Philip B. Gorelick, Fernando D. Testai, Graeme J. Hankey, Joanna M. Wardlaw, Hankey's Clinical Neurology, 2020
Diana Mnatsakanova, Charles K. Abrams
Nerve biopsies should only be performed in carefully selected patients after a thorough clinical work-up, due to high complication rates. The indications for nerve biopsy are mostly commonly for evaluation for suspected vasculitic neuropathies, leukemic or lymphomatous infiltration, or amyloid. Hereditary neuropathies may rarely be considered, however, molecular genetic testing is available in most cases.
BNC210: an investigational α7-nicotinic acetylcholine receptor modulator for the treatment of anxiety disorders
Published in Expert Opinion on Investigational Drugs, 2023
Elliot Hampsey, Adam Perkins, Allan H. Young
Generalized Anxiety Disorder is a common [10], chronic [11], and debilitating [12] psychiatric disorder characterized by ‘anxiety that is generalized and persistent but not restricted to, or even strongly predominating in, any particular environmental circumstances’ [13]. The contribution of hereditary factors is approximately 30% [14], with the remaining 70% attributed to environmental factors, e.g. transmission from parent to child [15]. GAD is more commonly diagnosed in women at a ratio of 3:2 [16], with a mean age at onset of 21 [17]. Much like GAD, SAD chronically impacts everyday functioning, albeit with a higher lifetime prevalence (5.7% for GAD; 12.1% for SAD [18]). The disorder is marked by ‘fear of scrutiny by other people leading to avoidance of social situations’ [13]. Although estimates regarding the heritability of SAD vary in the literature, reported from 13–76% [19], there is a significant, but not exclusive, genetic component to SAD.
Environmental and genetic risk factors in the development of neuromyelitis optica
Published in Expert Review of Ophthalmology, 2020
In another study, the prevalence rate of familial NMOSD was estimated to be 2.8%, too. In that study, which is the most comprehensive study of the familial aspect of NMOSD, 12 affected families and a total of 25 affected individuals were studied. The authors found that the presence of such familial cases was indicative of the hereditary aspects of this disease; however, it should be noted that these individuals may also be exposed to identical environmental factors. The families were of various nationalities such as Asian, White, Latino, and African-American backgrounds. Eighty-four percent of the patients were female. In cases with two generations of family history, the maternal and paternal transmission accounted for 71.4% and 28.6% of cases, respectively. The age of onset varied, and the onset symptoms were ON and LETM in 51.8% and 40.7% of cases, respectively [16].
Recent advances in genetic predisposition to pediatric acute lymphoblastic leukemia
Published in Expert Review of Hematology, 2020
Mackenzie Bloom, Jamie L. Maciaszek, Mary Egan Clark, Ching-Hon Pui, Kim E. Nichols
A third challenge stems from poor understanding of the impacts of germline variants on clinical phenotypes, which severely limits our ability to optimize the management of children and adults with an underlying predisposition. Indeed, for many cancer predisposing conditions, the age-specific cancer risks have not yet been defined. As such, the degree of cancer risk might be higher or lower, and the spectrum of cancers wider or narrower, than originally proposed. In addition, it remains poorly understood how germline variants influence responses to therapy and overall outcomes. Historically, most individuals to undergo genetic testing for cancer were those who met clinical criteria for a specific hereditary syndrome. As might be expected, this process confirmed and further strengthened associations between specific phenotypes and underlying germline genotypes. However, recent non-biased sequencing studies are revealing individuals with cancer who harbor germline variants that never would have been expected based on their clinical phenotype. For many cases, it remains to be determined whether these novel germline variants are truly causal. To improve knowledge surrounding specific genotype-phenotype associations, investigators must uniformly collect and share clinical, family history, and germline genetic data.