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RCH PHGKB

Specific PHGKB|Reproductive and Child Health PHGKB|PHGKB
Last Posted: Dec 02, 2021
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Real-time alerting system for COVID-19 and other stress events using wearable data
A Alavi et al, Nature Medicine, November 21, 2021

In a cohort of 3,318 participants, of whom 84 were infected with severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2), this system generated alerts for pre-symptomatic and asymptomatic SARS-CoV-2 infection in 67 (80%) of the infected individuals. Pre-symptomatic signals were observed at a median of 3 days before symptom onset.

Genomics elucidates both common and rare disease aetiology
A McNeil, EJHG, November 26, 2021

We close the year with a range of interesting and informative papers. Birth defects (congenital anomalies) affect many thousands of neonates every year; yet the aetiology of many of them remains unresolved. A new paper reviews what is known about the genomic basis of congenital diaphragmatic hernia (CDH). Around 10% of cases of CDH are associated with a copy number variant. Implicated pathways include NRF2 and vitamin A homeostasis. In contrast to common malformations, the genetic basis of rare disease continues to be elucidated with more and more causal genes identified annually

Deafness-family matters.
Roux Anne-Françoise et al. European journal of human genetics : EJHG 2021 11

Knowledge on the genetics of hearing loss has spectacularly progressed over the last 30 years, as over 120 genes are today causally implicated in Non-Syndromic Hearing Loss (NSHL). This genetic heterogeneity is further increased by over 400 forms of syndromic sensorineural HL [1]. Knowing the genetic etiology of HL provides benefits for the patient regarding the disease course, as well as monitoring for other potential clinical features. It also helps to estimate the recurrence risk of the condition within a given family. Genetic testing is now included in the global monitoring of hearing loss.

The Imperative of Responsible Innovation in Reproductive Medicine.
Mastenbroek Sebastiaan et al. The New England journal of medicine 2021 11 (22) 2096-2100

Responsible innovation requires that novel, potentially risky reproductive technologies be the subject of careful research that proceeds in a stepwise fashion from preclinical investigation to clinical trials and, ultimately, to long-term follow-up studies. Given the lack of high-level evidence of the effectiveness for PGT-A and the potential for adverse consequences, the use of PGT-A is best limited at present to the research setting.


news Latest News and Publications
A Comprehensive, Targeted NGS Approach to Assessing Molecular Diagnosis of Lysosomal Storage Diseases. External Web Site Icon
La Cognata Valentina et al. Genes 2021 12(11)
B-cell lymphoma 6 expression is not associated with live birth in a normal responder in vitro fertilization population. External Web Site Icon
Klimczak Amber M et al. Fertility and sterility 2021
Clinical and genetic analysis of children with hearing loss and bilateral enlarged vestibular aqueducts. External Web Site Icon
Nakano Atsuko et al. International journal of pediatric otorhinolaryngology 2021 110975
Cystinuria: an update on pathophysiology, genetics, and clinical management. External Web Site Icon
D'Ambrosio Viola et al. Pediatric nephrology (Berlin, Germany) 2021
Diabetes Mellitus in Prader-Willi Syndrome: Natural History during the Transition from Childhood to Adulthood in a Cohort of 39 Patients. External Web Site Icon
Clerc Alice et al. Journal of clinical medicine 2021 10(22)
Experiences With Genetic Counseling, Testing, and Diagnosis Among Adolescents With a Genetic Condition: A Scoping Review. External Web Site Icon
Wainstein Tasha et al. JAMA pediatrics 2021
Gene Therapies for Monogenic Autism Spectrum Disorders. External Web Site Icon
Weuring Wout et al. Genes 2021 12(11)
International Consensus Statement on the diagnosis, multidisciplinary management and lifelong care of individuals with achondroplasia. External Web Site Icon
Savarirayan Ravi et al. Nature reviews. Endocrinology 2021
Maximizing Benefits and Minimizing Harms: Diagnostic Uncertainty Arising From Newborn Screening. External Web Site Icon
Chakraborty Pranesh et al. Pediatrics 2021
Outcomes of Cystic Fibrosis Screening-Positive Infants With Inconclusive Diagnosis at School Age. External Web Site Icon
Gonska Tanja et al. Pediatrics 2021

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Disclaimer: Articles listed in the Public Health Knowledge Base are selected by the CDC Office of Public Health Genomics to provide current awareness of the literature and news. Inclusion in the update does not necessarily represent the views of the Centers for Disease Control and Prevention nor does it imply endorsement of the article's methods or findings. CDC and DHHS assume no responsibility for the factual accuracy of the items presented. The selection, omission, or content of items does not imply any endorsement or other position taken by CDC or DHHS. Opinion, findings and conclusions expressed by the original authors of items included in the update, or persons quoted therein, are strictly their own and are in no way meant to represent the opinion or views of CDC or DHHS. References to publications, news sources, and non-CDC Websites are provided solely for informational purposes and do not imply endorsement by CDC or DHHS.

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