Sister Elizabeth Kenny and Polio in America: Doyenne or Demagogue in Her Role in Rehabilitation Medicine?

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Lumbar Medial Branch Block Volume Dependent Dispersion Patterns as a Predictor for Ablation Success: A Cadaveric Study

Lumbar facet arthropathy is a common cause of low back pain. Literature supports treatment with radiofrequency ablation (RFA) of associated nerves that innervate lumbar facets when alternative conservative therapies have failed. Diagnostic local anesthetic blocks precede therapeutic ablation, but have a false positive rate of 27-63%, and some have questioned their utility in predicting therapeutic response to RFA. The authors believe that injectate volume may be a contributing factor to false positivity.

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Body Satisfaction During Pregnancy: The Role of Health-Related Habit Strength

Abstract

Objectives Body satisfaction during pregnancy is an important determinant of maternal and fetal health outcomes. It is therefore critical to investigate factors related to changes in body satisfaction and to elucidate how body satisfaction changes over time in pregnant women. The purpose of this study was to examine the relation between two novel factors (i.e., healthy eating habit strength and physical activity habit strength) and body satisfaction during pregnancy. Methods Participants (n = 67 pregnant North American women) completed online questionnaires at the beginning of their second trimester (Time 1) and at the end of pregnancy. Maternal characteristics, relationship satisfaction, self-esteem, and psychological distress were assessed at Time 1 and habit strength, body satisfaction, and weight were assessed at both time points. Results Strength of healthy eating and physical activity habits remained stable over time and body satisfaction decreased over time. Healthy eating habit strength at Time 1 predicted increases in body satisfaction from the second trimester to the end of pregnancy, even when controlling for gestational weight gain. Conclusions This study suggests that health-related habit strength in women of reproductive age may offer protection against low levels of body satisfaction during pregnancy.

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Impact of a Usual Source of Care on Health Care Use, Spending, and Quality Among Adults With Mental Health Conditions

Abstract

Physical comorbidities associated with mental health conditions contribute to high health care costs. This study examined the impact of having a usual source of care (USC) for physical health on health care utilization, spending, and quality for adults with a mental health condition using Medicaid administrative data. Having a USC decreased the probability of inpatient admissions and readmissions. It decreased expenditures on emergency department visits for physical health, 30-day readmissions, and behavioral health inpatient admissions. It also had a positive effect on several quality measures. Results underscore the importance of a USC for physical health and integrated care for adults with mental health conditions.

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Behavioral and physiological polymorphism in males of the austral lizard Liolaemus sarmientoi

Abstract

Integrative behavioral studies show that the interplay between individual physiology and social behavior influences the ecology of the species, ultimately affecting individual fitness. Particularly in lizards, color polymorphism is associated with differential behaviors and reproductive strategies, which are evident in mature males during the mating season. Dominant males generally have greater endurance, higher body temperature, and larger bodies than submissive males, so they can acquire and defend larger territories and have greater access to females for mating. We studied whether the color morphs observed in males of one of the world's southernmost reptiles, Liolaemus sarmientoi, are related to behavioral variation during agonistic interactions, thermal physiology, morphology, and/or locomotor stamina. Liolaemus sarmientoi males exhibit three color morphs: red (RR), red–yellow (RY), and yellow (YY). These lizards exhibit subtle behavioral displays and we did not observe stamina differences among morphs. However, we found that RR males are more aggressive than YY males during agonistic encounters. In addition, greater body temperature change during trials, higher field body temperatures, and greater head sizes of RR males compared to RY or YY indicate that RR is a dominant morph, which may influence their ability to acquire and defend territory and tactics for achieving reproductive success.

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Riboflavin transporter deficiency mimicking mitochondrial myopathy caused by complex II deficiency

Biallelic likely pathogenic variants in SLC52A2 and SLC52A3 cause riboflavin transporter deficiency. It is characterized by muscle weakness, ataxia, progressive ponto-bulbar palsy, amyotrophy, and sensorineural hearing loss. Oral riboflavin halts disease progression and may reverse symptoms. We report two new patients whose clinical and biochemical features were mimicking mitochondrial myopathy. Patient 1 is an 8-year-old male with global developmental delay, axial and appendicular hypotonia, ataxia, and sensorineural hearing loss. His muscle biopsy showed complex II deficiency and ragged red fibers consistent with mitochondrial myopathy. Whole exome sequencing revealed a homozygous likely pathogenic variant in SLC52A2 (c.917G>A; p.Gly306Glu). Patient 2 is a 14-month-old boy with global developmental delay, respiratory insufficiency requiring ventilator support within the first year of life. His muscle biopsy revealed combined complex II + III deficiency and ragged red fibers consistent with mitochondrial myopathy. Whole exome sequencing identified a homozygous likely pathogenic variant in SCL52A3 (c.1223G>A; p.Gly408Asp). We report two new patients with riboflavin transporter deficiency, caused by mutations in two different riboflavin transporter genes. Both patients presented with complex II deficiency. This treatable neurometabolic disorder can mimic mitochondrial myopathy. In patients with complex II deficiency, riboflavin transporter deficiency should be included in the differential diagnosis to allow early treatment and improve neurodevelopmental outcome.

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Relevance of genetic relationship in GWAS and genomic prediction

Abstract

The objective of this study was to analyze the relevance of relationship information on the identification of low heritability quantitative trait loci (QTLs) from a genome-wide association study (GWAS) and on the genomic prediction of complex traits in human, animal and cross-pollinating populations. The simulation-based data sets included 50 samples of 1000 individuals of seven populations derived from a common population with linkage disequilibrium. The populations had non-inbred and inbred progeny structure (50 to 200) with varying number of members (5 to 20). The individuals were genotyped for 10,000 single nucleotide polymorphisms (SNPs) and phenotyped for a quantitative trait controlled by 10 QTLs and 90 minor genes showing dominance. The SNP density was 0.1 cM and the narrow sense heritability was 25%. The QTL heritabilities ranged from 1.1 to 2.9%. We applied mixed model approaches for both GWAS and genomic prediction using pedigree-based and genomic relationship matrices. For GWAS, the observed false discovery rate was kept below the significance level of 5%, the power of detection for the low heritability QTLs ranged from 14 to 50%, and the average bias between significant SNPs and a QTL ranged from less than 0.01 to 0.23 cM. The QTL detection power was consistently higher using genomic relationship matrix. Regardless of population and training set size, genomic prediction provided higher prediction accuracy of complex trait when compared to pedigree-based prediction. The accuracy of genomic prediction when there is relatedness between individuals in the training set and the reference population is much higher than the value for unrelated individuals.

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