Mastodawn

solomonbenjamind Aug 9, 2023

Q455 answer: Fasting
https://pubmed.ncbi.nlm.nih.gov/16788829/
https://www.ncbi.nlm.nih.gov/books/NBK1424/

Safe and unsafe duration of fasting for children with MCAD deficiency - PubMed

Therefore, to conclude, we recommend a maximum duration of fasting in children with MCAD deficiency of 8 hours between 6 months and 1 year of age, 10 hours in the second year of life and 12 hours thereafter. From this study, no conclusions can be drawn on the duration of fasting during situations of …

PubMed

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solomonbenjamind Jul 31, 2023

Q454 answer: Friedreich ataxia - cardiomyopathy
https://www.ncbi.nlm.nih.gov/books/NBK1281/
https://www.ncbi.nlm.nih.gov/books/NBK1497/
https://www.ncbi.nlm.nih.gov/books/NBK1165/
https://www.ncbi.nlm.nih.gov/books/NBK1119/

Friedreich Ataxia

Friedreich ataxia (FRDA) is characterized by slowly progressive ataxia with onset usually before age 25 years (mean age at onset: 10-15 yrs). FRDA is typically associated with dysarthria, muscle weakness, spasticity particularly in the lower limbs, scoliosis, bladder dysfunction, absent lower-limb reflexes, and loss of position and vibration sense. Approximately two thirds of individuals with FRDA have cardiomyopathy, up to 30% have diabetes mellitus, and approximately 25% have an "atypical" presentation with later onset or retained tendon reflexes.

NCBI Bookshelf

solomonbenjamind Jul 28, 2023

https://www.washingtonpost.com/science/2023/07/28/animals-asexual-reproduction-genetic-discovery/

In a first, scientists find genetic cause for ‘virgin birth’ in animals

Scientists tinkering with fruit fly genes have succeeded in inducing virgin birth in an animal that normally reproduces sexually.

The Washington Post

solomonbenjamind Jul 28, 2023

Our collaborative paper on computer and human vision related to genetic conditions is out on medRxiv! https://gcc02.safelinks.protection.outlook.com/?url=https%3A%2F%2Fmedrxiv.org%2Fcgi%2Fcontent%2Fshort%2F2023.07.26.23293119v1&data=05%7C01%7Csolomonb%40mail.nih.gov%7C0d447c3cfa4949dc1ef008db8f91ca45%7C14b77578977342d58507251ca2dc2b06%7C0%7C0%7C638261628569386114%7CUnknown%7CTWFpbGZsb3d8eyJWIjoiMC4wLjAwMDAiLCJQIjoiV2luMzIiLCJBTiI6Ik1haWwiLCJXVCI6Mn0%3D%7C7000%7C%7C%7C&sdata=NzLB30%2BplzsXONbHEvNGXm%2BmOhIyB%2FshAryJdnb7O64%3D&reserved=0
Due to medRxiv's understandable restrictions about showing images of people (even with appropriate consents/permissions), please keep an eye out for the final version, which has some very neat figures that help illustrate the results.

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solomonbenjamind Jul 19, 2023

Q453 answer: Hereditary hemorrhagic telangiectasia
https://pubmed.ncbi.nlm.nih.gov/25674101/
https://www.ncbi.nlm.nih.gov/books/NBK1351/

Hereditary hemorrhagic telangiectasia: genetics and molecular diagnostics in a new era - PubMed

Hereditary hemorrhagic telangiectasia (HHT) is a vascular dysplasia characterized by telangiectases and arteriovenous malformations (AVMs) in particular locations described in consensus clinical diagnostic criteria published in 2000. Two genes in the transforming growth factor-beta (TGF-β) signaling …

PubMed

solomonbenjamind Jul 11, 2023

https://www.medpagetoday.com/pediatrics/generalpediatrics/105428

Whole Genome Sequencing Boosts Diagnosis of Rare Disease in Infants

Whole genome scans took longer than a commercially available test, but not for most urgent cases

MedpageToday

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solomonbenjamind Jun 30, 2023

Q452 answer: Axenfeld-Rieger syndrome
https://pubmed.ncbi.nlm.nih.gov/12015277/
https://pubmed.ncbi.nlm.nih.gov/35882526/

Molecular genetics of Axenfeld-Rieger malformations - PubMed

Axenfeld-Rieger (AR) malformations are autosomal dominant developmental defects of the anterior segment of the eye, and often result in glaucomatous blindness. AR malformations are associated with mutations in two transcription factor genes (PITX2 and FOXC1) expressed throughout eye ontogeny. Studie …

PubMed

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solomonbenjamind Jun 22, 2023

Q451 answer: Synteny
https://pubmed.ncbi.nlm.nih.gov/19347649/
https://pubmed.ncbi.nlm.nih.gov/29382321/

Genetic maps and the use of synteny - PubMed

Genetic linkage maps represent the order of known molecular genetic markers along a given chromosome for a given species. This provides an insight into the organisation of a plant genome. In comparative genomics, synteny is the preserved order of genes on chromosomes of related species which results …

PubMed

solomonbenjamind Jun 16, 2023

Great job opening in NIEHS (part of NIH, located in NC) for a physician-scientist (there are two different titles listed, since the title will depend on the person's experience).
Here's the link to the staff clinician announcement: https://www.niehs.nih.gov/careers/jobs/staff-clinician-crb/index.cfm
Here's the QR code for the senior clinician posting:

Staff Clinician, Clinical Research Branch

The mission of the National Institute of Environmental Health Sciences is to discover how the environment affects people in order to promote healthier lives.

National Institute of Environmental Health Sciences

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solomonbenjamind Jun 15, 2023

Q450 answer: Turner syndrome
https://pubmed.ncbi.nlm.nih.gov/30354301/

Cardiovascular Health in Turner Syndrome: A Scientific Statement From the American Heart Association - PubMed

Girls and women with Turner syndrome face a lifelong struggle with both congenital heart disease and acquired cardiovascular conditions. Bicuspid aortic valve is common, and many have left-sided heart obstructive disease of varying severity, from hypoplastic left-sided heart syndrome to minimal aort …

PubMed