American journal of medical genetics. Part A
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Am. J. Med. Genet. A · Jul 2021
Subtle differences in autonomic symptoms in people diagnosed with hypermobile Ehlers-Danlos syndrome and hypermobility spectrum disorders.
The hypermobile Ehlers-Danlos syndrome (hEDS) GENE study is a multicenter, cohort study with the goal to identify genes associated with hypermobile EDS. Of the 148 people enrolled in the hEDS GENE study, 98 meet the 2017 hEDS criteria, 27 have a hypermobility spectrum disorder (HSD) and 23 are asymptomatic family members. More than 80% of participants are female with an average age of 41 years. ⋯ The frequency and severity of most symptoms were indistinguishable between participants with hEDS and HSD; however, there were significant differences in autonomic symptoms. Less than 20% of participants had autoantibodies known to be associated with dysautonomia. Subtle symptomatic differences in people meeting the 2017 diagnostic criteria suggest focusing further etiologic studies on autonomic pathways.
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Am. J. Med. Genet. A · May 2021
Case ReportsManifestations of thrombospondin type-1 domain-containing protein 1 gene mutation in an extremely premature infant with nonimmune hydrops fetalis.
Homozygous variants of the thrombospondin type-1 domain-containing 1 (THSD1) gene have recently been associated with nonimmune hydrops fetalis (NIHF; OMIM 236750) in infants, as well as with congenital heart disease, hemangiomas, prematurity, and embryonic lethality. Here, we report the first case of a biallelic variant of THSD1 in an extremely premature infant (25 weeks) who suffered from NIHF (eventually resolved) and other manifestations of the THSD1 variant, such as congenital heart disease and hemangiomas. ⋯ This case indicates that biallelic homozygous variants of THSD1 are among the likely causes of NIHF. Information from this case report will aid in determining the prognosis of NIHF caused by such variants in premature infants.
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Am. J. Med. Genet. A · Jan 2021
41st Annual David W. Smith workshop on malformations and morphogenesis: Abstracts of the 2020 annual meeting.
The 41st Annual David W. Smith Workshop on Malformation and Morphogenesis was scheduled to take place in Skamania, Washington, on September 11-16, 2020. Due to the COVID-19 pandemic and the associated recommendations to avoid travel and congregation in large groups, this meeting took place differently from its original plan. ⋯ A 1 day online meeting was organized in order to allow trainees to present their work. This Conference Report includes the highest scoring abstracts submitted by trainees and presented at the 2020 virtual David W. Smith Workshop.
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Headache and neck pain (cervicalgia) are frequently reported among patients with joint hypermobility but the prevalence and scope of these symptoms has not been studied in the era of contemporary Ehlers-Danlos and hypermobility disorder nosology. We performed a single-center retrospective study on the incidence of head and neck symptoms in 140 patients with hypermobility disorders over a 2-year period. Overall, 93 patients (66%) reported either headache or neck pain with 49 of those (53%) reporting both. ⋯ Fifty-nine percent of spondylosis patients who underwent cervical facet procedures reported significant improvement in neck and head symptoms. Of patients with both head and neck complaints, 82% had both migraine and spondylosis, which, when combined with the high response rate to injections raises the possibility of cervicogenic headache. In this large multidisciplinary retrospective study of patients with hypermobility disorders, head and neck symptoms were highly prevalent, with migraine and cervical spondylosis common, often coexisting, and frequently responsive to targeted therapy for the cervical spine suggesting that degenerative spinal pathology may cause or contribute to headache symptoms in some patients with hypermobility disorders.
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Am. J. Med. Genet. A · Dec 2020
Recommended measures for the efficient care of patients with genetic disorders during the COVID-19 pandemic in low and middle income countries.
The coronavirus disease 2019 (COVID-19) emerged in early 2020 and since, has brought about tremendous cost to economies and healthcare systems universally. Reports of pediatric patients with inherited conditions and COVID-19 infections are emerging. Specific risks for morbidity and mortality that this pandemic carries for different categories of genetic disorders are still mostly unknown. ⋯ Many measures to facilitate the plan to continuous genetic care in a well-developed health system, may not be applicable in Low and Middle Income countries (LMIC). With poorly structured health systems and with the lack of established genetic services, the COVID-19 pandemic will easily exacerbate the access to care for patients with genetic disease in these countries. This article focuses on the unique challenges of providing genetic healthcare services during emergency situations in LMIC countries and provides practical preparations for this and other pandemic situations.