Publications by authors named "Hannah Meddaugh"
Article Synopsis
- - Parents of newborns in the NICU found genome sequencing (GS) valuable for decision-making about future care and resolving diagnostic uncertainties.
- - Most parents accepted the timing of receiving GS results, though they noted the NICU environment could be overwhelming during the process.
- - Parents indicated that GS did not negatively affect their bonding with their infants and had mixed feelings about guilt related to the results.
Article Synopsis
- The blood-brain barrier is essential for protecting the central nervous system (CNS) and maintaining its balance, with Claudin-5 (CLDN5) being a key factor in its integrity.
- Researchers discovered new mutations in the CLDN5 gene in 15 unrelated patients, who exhibited symptoms like developmental delays, seizures, and specific brain abnormalities.
- By studying these variants in zebrafish, they found that these mutations likely disrupt the normal function of CLDN5, leading to a new neurodevelopmental disorder that affects both the blood-brain barrier and neuronal health.
Short stature, hearing loss, retinitis pigmentosa, and distinctive facies (SHRF) Syndrome is a syndrome recently identified among three German patients. Clinical characteristics include eye disease, sensorineural hearing loss, distinct facial and phalangeal features, short stature, developmental delay, and cerebellar atrophy. In this case report, we discuss a fourth identified patient with genomic mutations in the EXOSC2 gene which codes for a cap protein in the RNA exosome.
View Article and Find Full Text PDFArticle Synopsis
- * The study analyzed 367 infants and found that 30% had definitive or likely genetic diagnoses, with 14% receiving uncertain results; only 43% of these findings were detected through standard clinical testing.
- * The findings suggest that genome sequencing is more effective for early genetic diagnosis in infants, especially those with specific physical traits, and the study shows no diagnostic differences among racial/ethnic groups.
Article Synopsis
- * In a study of 20 individuals with harmful mutations in MORC2, symptoms included developmental delay, intellectual disability, and physical growth issues, alongside signs of neuropathy, though neuropathy was not the main problem.
- * The findings suggest that these genetic variants cause abnormal epigenetic silencing and expand the known disorders linked to MORC2, including specific brain imaging and eye exam abnormalities resembling Leigh syndrome.
Gorlin syndrome, also known as Nevoid Basal-Cell Carcinoma Syndrome (NBCCS), is an autosomal dominant tumor predisposition syndrome that presents early in life with characteristic congenital malformations and tumors. This syndrome most commonly results from germline mutations of the PTCH1 tumor suppressor gene, which shows high penetrance and great intra and interfamilial phenotypic variability, as well as the SUFU tumor suppressor gene. Recently, the PTCH2 gene has also been implicated as a cause of Gorlin syndrome.
View Article and Find Full Text PDFSigma-1 receptor (S1R) is a mammalian member of the ERG2 and sigma-1 receptor-like protein family (pfam04622). It has been implicated in drug addiction and many human neurological disorders, including Alzheimer and Parkinson diseases and amyotrophic lateral sclerosis. A broad range of synthetic small molecules, including cocaine, (+)-pentazocine, haloperidol, and small endogenous molecules such as N,N-dimethyltryptamine, sphingosine, and steroids, have been identified as regulators of S1R.
View Article and Find Full Text PDFSigma 1 receptor (S1R) is a eukaryotic membrane protein that functions as an inter-organelle signaling modulator and chaperone. Here we report an improved expression of S1R in Escherichia coli as a fusion to maltose binding protein (MBP) and a high-yield purification. Variants with linking amino acid sequences consisting of 0-5 alanine residues between MBP and S1R were created and tested in several E.
View Article and Find Full Text PDFContext: Common perceptions exist within the medical community that retention of Hispanics in clinical trials is difficult, albeit little data is available to support this conviction.
Methods: A total of 541 randomly selected charts from closed clinical trials between 2000 and 2006 were reviewed. Records were from participating institutions in Texas Medical Center, Houston, and targeted diseases of high prevalence, specifically, breast cancer, prostate cancer, and chronic obstructive pulmonary disease (COPD)/asthma.