Publications by authors named "M E Saenz"
Background: Elective primary total hip and total knee arthroplasty (collectively, total joint arthroplasties [TJAs]) are commonly performed procedures that can reduce pain and improve function. TJAs are generally safe, but complications can occur. Although historically performed as inpatient procedures, TJAs are increasingly being performed in the outpatient setting.
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- Rearrangements on the p-arm of Chromosome 8 can lead to various neurodevelopmental issues, including epilepsy and developmental delays, along with potential heart and brain malformations.
- Most patients in this study exhibit a specific type of rearrangement characterized as inverted-duplication deletion, but other changes like deletions and duplications also show similar effects.
- The report provides detailed descriptions of patients based on their chromosomal changes, shares neuro-psychometric data, and offers care guidelines for those working with patients affected by Chromosome 8p Syndromes based on experiences from a specialized program.
Objective: POLR3B encodes the second largest subunit of RNA polymerase III, which is essential for transcription of small non-coding RNAs. Biallelic pathogenic variants in POLR3B are associated with an inherited hypomyelinating leukodystrophy. Recently, de novo heterozygous variants in POLR3B were reported in six individuals with ataxia, spasticity, and demyelinating peripheral neuropathy.
View Article and Find Full Text PDFAliphatic chlorinated hydrocarbons, notably tetrachloroethylene (also known as perchloroethylene [PCE]), are persistent, mobile, and toxic (PMT) and/or very persistent, mobile, and toxic (vPMT) groundwater pollutants, often exceeding safe drinking water thresholds. The present study delves into the groundwater risk assessment of PCE with a novel focus on the sensitivity of stygobitic species-organisms uniquely adapted to groundwater environments. Through a comparative analysis of the subchronic effects of PCE on the locomotion behavior of two copepod species, the stygobitic Moraria sp.
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- Typical Rett syndrome (RTT) is a neurodevelopmental disorder primarily affecting females, causing loss of purposeful hand movements, speech, and impaired gait, often linked to mutations in the MECP2 gene.
- A young woman with classic RTT had no genetic diagnosis for 20 years despite extensive testing, until recent advanced sequencing revealed a unique alteration involving the BCL11A gene affecting MECP2.
- This case highlights the evolving nature of genetic testing and emphasizes the need for ongoing investigation into diagnoses as technology advances.