Novel autopsy and genetic findings in an acardiac twin: case report and literature review.

Twin reversed arterial perfusion (TRAP) sequence is a rare complication of monochorionic twinning whereby a donor twin perfuses an acardiac twin via aberrant vascular anastomoses. The resulting paradoxical retrograde blood flow supplying the acardiac twin is oxygen-poor, leading to some of the most severe malformations encountered in humans. Though the first descriptions of acardiac twins date back to at least the 16th century, the pathophysiologic processes which underpin the development of TRAP sequence are still being elucidated. Theories on the pathogenesis of TRAP sequence include deficiencies intrinsic to the embryo and primary abnormalities of the placental vasculature. Autopsy studies continue to provide clues to the underlying pathogenesis of TRAP sequence, and the characterization of the spectrum of manifestations that can be observed in acardiac twins. Herein, we present the clinical, autopsy, and molecular findings in a unique case of TRAP sequence. Novel findings include a primitive cloaca-like structure and chromosomal aberrations involving 6q11.1 and 15q25.1.

Novel autopsy and genetic findings in an acardiac twin: case report and literature review

ABSTRACT Twin reversed arterial perfusion (TRAP) sequence is a rare complication of monochorionic twinning whereby a donor twin perfuses an acardiac twin via aberrant vascular anastomoses. The resulting paradoxical retrograde blood flow supplying the acardiac twin is oxygen-poor, leading to some of the most severe malformations encountered in humans. Though the first descriptions of acardiac twins date back to at least the 16th century, the pathophysiologic processes which underpin the development of TRAP sequence are still being elucidated. Theories on the pathogenesis of TRAP sequence include deficiencies intrinsic to the embryo and primary abnormalities of the placental vasculature. Autopsy studies continue to provide clues to the underlying pathogenesis of TRAP sequence, and the characterization of the spectrum of manifestations that can be observed in acardiac twins. Herein, we present the clinical, autopsy, and molecular findings in a unique case of TRAP sequence. Novel findings include a primitive cloaca-like structure and chromosomal aberrations involving 6q11.1 and 15q25.1.

Submuscular Plating Versus Elastic Intramedullary Nailing in Children with Femoral Shaft Fracture; a systematic review and meta-analysis.

Introduction: Elastic stable intramedullary nailing (ESIN) is currently the technique of choice for pediatric femoral fractures. Submuscular plating (SMP) allows reliable healing associated with an early range of motion. The following systematic review and meta-analysis was carried out to reveal the functional and surgical outcomes of SMP and ESIN for fixation of pediatric femoral fractures and to aid in the decision-making processes for those who perform these procedures. Methods: An extensive systematic literature review was implemented from inception to 23 February 2022. All clinical studies included had patients that were younger than 18 years old with femoral shaft fractures that compared outcomes between SMP and ESIN. Studies including patients with pathological fractures, closed femoral physis, multiple fractures, or refractures were excluded. Results: This meta-analysis included six articles encompassing 568 patients. Of them, 206 patients were treated with SMP, while 362 were subjected to ESIN procedure. There was significantly more blood loss among patients treated with SMP (MD -45.45; 95% -61.62, -29.27; p < 0.001). The risk of postoperative adverse surgical events was significantly higher among patients subjected to the ESIN (RR 2.97 19.5; 95% 1.27, 6.98; p = 0.01). The mean hospital stay was significantly shorter among patients subjected to ESIN (SMD -1.47; 95% -2.43, -0.51; p = 0.003). Patients subjected to SMP showed significantly more EFOs when comparing Flynn Scores (OR 0.24; 95% 0.09, 0.64; p = 0.004). There was no significant difference between SMP and ESIN regarding the mean operation time, limb length discrepancy, and mean time to union. Conclusions: Children with femoral shaft fractures can be managed effectively and safely with SMP. There was a similar surgical outcome between SMP and ESIN, but SMP had more EFOs. While SMP was associated with a low risk of postoperative adverse surgical events, it was associated with a more significant blood loss and prolonged hospital stays.

A Chronic High-Intensity Interval Training and Diet-Induced Obesity Model to Maximize Exercise Effort and Induce Physiologic Changes in Rats.

Compared to continuous-moderate or low-intensity training, high-intensity interval training (HIIT) is a more time-efficient alternative method that results in similar physiologic benefits. This paper presents a HIIT protocol that can be used to assess various health markers in a Sprague-Dawley rat model of diet-induced obesity. Female Sprague Dawley rats aged 21 days old were randomly assigned to the following groups: control (CON, n = 10), exercise-trained (TRN, n = 10), high-fat diet (HFD, n = 10), and high-fat diet/exercise training (HFD/TRN, n = 10). The control diets consisted of commercial laboratory chow with 10% kilocalories (kcal) from fat (3.82 kcal/g), and the high-fat diets (HFD) consisted of 45% kcal from fat (4.7 kcal/g). The animals had ad libitum access to their assigned diet throughout the study. After an 8 week diet induction period, the exercise cohorts completed four HIIT sessions per week for 8 weeks. Each HIIT session consisted of 10 intervals of 1 min sprints/2 min rest using a rodent treadmill with a motor-driven belt. After the 8 weeks of training, the animals were sacrificed for tissue collection. The results revealed no differences in the distance run between the TRN and HFD/TRN groups, and the training speed steadily increased over the duration of the study, with a final running speed of 115 cm/s and 111 cm/s for the TRN and HFD/TRN groups, respectively. The weekly caloric intake was decreased (p < 0.05) in the TRN group relative to the CON group but increased (p < 0.05) in the HFD/TRN group relative to the HFD group. Lastly, the animals on the HFD had greater (p < 0.05) adiposity, and the trained animals had reduced (p < 0.05) adiposity relative to controls. This protocol demonstrates an efficient method to evaluate the effects of HIIT on various physiologic outcomes in a diet-induced obesity model.

Cardiovascular consequences of maternal obesity throughout the lifespan in first generation sheep.

Obesity continues to be a significant global health issue and contributes to a variety of comorbidities and disease states. Importantly, obesity contributes to adverse cardiovascular health outcomes, which is the leading cause of death worldwide. Further, maternal obesity during gestation has been shown to predispose offspring to adverse phenotypic outcomes, specifically cardiovascular outcomes. Therefore, we hypothesized that diet-induced obesity during gestation would result in adverse cardiovascular phenotypes in first-generation offspring that would have functional consequences in juvenile and advanced ages. Multiparous Rambouillet/Columbia cross ewes (F0) were fed a highly palatable, pelleted diet at either 100% (CON), or 150% (OB) of National Research Council recommendations from 60 days prior to conception, until necropsy at d 135 (90%) of gestation (CON: n = 5, OB: n = 6), or through term for lambs (F1: 2.5 mo. old; CON: n = 9, OB: n = 6) and ewes (F1:9 years old; CON: n = 5, OB: n = 8). Paraffin-embedded fetal aorta section staining revealed increased collagen:elastin ratio and greater aortic wall thickness in OBF1 fetuses. Invasive auricular blood pressure recordings revealed elevated systolic blood pressure in OBF1 lambs, but no differences in diastolic pressure. In aged F1 ewes, systolic and diastolic blood pressures were reduced in OBF1 relative to CONF1. Echocardiography revealed no treatment differences in F1 lambs, but F1 ewes show tendencies for increased end systolic volume and decreased stroke volume, and markedly reduced ejection fraction. Therefore, we conclude that maternal obesity programs altered cardiovascular development that results in a hypertensive state in OBF1 lambs. Increased cardiac workload resulting from early life hypertension precedes the failure of the heart to maintain function later in life.

Evaluating Moderation of Parent-Teen Overweight/Obesity Relation by Household Socioeconomic Status.

Evidence links parent-offspring weight status, but few studies have evaluated whether markers of socioeconomic status moderate this relation. The 2014 Family Life, Activity, Sun, Health, and Eating study was used to assess intergenerational weight status in a national sample of parent-teen dyads. Multivariable logistic regression models assessed the relation between parent-teen weight status, controlling for teen and parent dietary factors, physical activity, demographic factors, and socioeconomic factors. Models with interaction assessed moderation by household food security status and participation in federal assistance programs. In fully adjusted models, sons were 2.66 (95% CI: 1.56, 4.55) times more likely to have overweight/obesity if their mother had overweight/obesity, and daughters were 3.35 (95% CI: 1.91, 5.86) times more likely. This relation was stronger in mother-son pairs in households with lower food security. These findings provide important new information that can be used to inform nutritional counseling efforts and educational programs that support families with socioeconomic disadvantage.

A Review of Maternal Nutrition during Pregnancy and Impact on the Offspring through Development: Evidence from Animal Models of Over- and Undernutrition.

Similarities in offspring phenotype due to maternal under- or over-nutrition during gestation have been observed in studies conducted at University of Wyoming. In these studies, ewes were either nutrient-restricted (NR) from early to mid-gestation, or fed an obesogenic diet (MO) from preconception through term. Offspring necropsies occurred at mid-gestation, late-gestation, and after parturition. At mid gestation, body weights of NR fetuses were ~30% lighter than controls, whereas MO fetuses were ~30% heavier than those of controls. At birth, lambs born to NR, MO, and control ewes exhibited similar weights. This was a consequence of accelerated fetal growth rates in NR ewes, and reduced fetal growth rates in MO ewes in late gestation, when compared to their respective controls. These fetal growth patterns resulted in remarkably similar effects of increased susceptibility to obesity, cardiovascular disease, and glucose intolerance in offspring programmed mostly during fetal stages of development. These data provide evidence that maternal under- and over-nutrition similarly induce the development of the same cadre of physical and metabolic problems in postnatal life.

Genetic variations in the dopamine reward system influence exercise reinforcement and tolerance for exercise intensity.

BACKGROUND: Exercise is a reinforcing behavior and finding exercise highly reinforcing is characteristic of habitual exercisers. Genotypes related to dopamine metabolism moderate the reinforcing value of behaviors, but genetic moderators of exercise reinforcement have not been established. PURPOSE: Determine whether singular nucleotide polymorphisms (SNPs) that moderate central reward pathways and pain neurotransmission are associated with exercise reinforcement, tolerance for exercise intensity, and usual physical activity. METHODS: Adults (n = 178) were measured for the reinforcing value of exercise relative to sedentary activities (RRVexercise), minutes of moderate-to-vigorous physical activity (MVPA) and completed the Preference for and Tolerance of the Intensity of Exercise Questionnaire. Genotyping of 23 SNPs known to influence central dopamine tone, pain, or physical activity was performed. ANOVA tested differences in RRVexercise, tolerance, and MVPA among genotype groups. Linear regression controlling for BMI, sex, and liking of exercise was used to further predict the association of genotype on RRVexercise, tolerance, and MVPA. RESULTS: Having at least one copy of the G allele for the DRD2/ANKK1 polymorphism (rs1800497) conferred greater RRVexercise. Greater tolerance for exercise intensity was observed among those homozygous for the T allele for the CNR1 polymorphism (rs6454672), had at least one copy of the G allele for the GABRG3 polymorphism (rs8036270), or had at least one copy of the T allele for the LPR polymorphism (rs12405556). Homozygous individuals for the T allele at rs6454672 exhibited greater MVPA. CONCLUSION: Similar to other reinforcing behaviors, there is a genetic contribution to exercise reinforcement, tolerance for exercise intensity, and MVPA.