The Perceived Influence of Neurofibromatosis Type 1(NF1) on the Parents' Relationship.

Neurofibromatosis type 1 (NF1) is a genetic condition affecting 1 in 3000 individuals. Having a child with a chronic illness can introduce both practical and emotional challenges to a parental relationship. This cross-sectional study was administered to 50 parents of children with NF1, diagnosed between the ages of 1-24. Each participant was provided a 50-item self-report survey to complete during an inpatient or outpatient visit. The survey gathered information on the participants' views of the spouse/partner relationship, coping mechanisms, and elements that supported emotional connections. While the majority of parental relationships were reported to remain strong, the mean relationship quality was perceived to have decreased compared to prior to the child's diagnosis. Compassionate and open communication, shared perspective, having time alone with their partner outside of medical situations, and dyadic coping were identified as strategies that could strengthen the relationship. The identified stressors to the parental relationship during the NF1 illness trajectory can inform interventions and help guide development of a couple's intervention. The National Cancer Institute, NIH Institutional Review Board approved this study (12-C-0206).

Analysis of conventional and helical soil nails using finite element method and limit equilibrium method.

The infrastructure of roads, bridges, tunnels, subways, etc. is grooming day by day. In the recent era, soil nailing is the developing method for slope stability, road widening projects, and constructing deep foundations. This paper suggests a new and improved helical soil nail (HN) that offers an alternative to conventional soil nail (CN). Till now pullout studies on different model nails in c-Φ soil are still rare. In addition, the stability analysis for conventional soil nails was only studied using FEM analysis, whereas for helical soil nails the estimation of stability of slope is still mysterious. So, the present study includes the behavior of conventional and helical soil nails based on both laboratory and analytical methods in c-Φ soil. The present study also incorporated the use of theoretical equations and finite element analysis (using PLAXIS 2D) for comparing the stability of different profiles of soil nails (e.g., CN and HN) in c-Φ soil, which was unique to this study. By using the finite element method (FEM) and the limit equilibrium method (LEM), a factor of safety was also estimated for both types of nails (CN and HN). According to the experimental, analytical, and numerical findings, it is clear that helical soil nails (HN) exhibit less deformation and more factor of safety than conventional soil (CN) nails under similar loading and soil conditions.

Weight Gain after Hormone Receptor-Positive Breast Cancer.

Obesity following breast cancer diagnosis is associated with poor overall survival. Understanding weight trajectories will help inform breast cancer survivors at greater risk of weight gain, and those who would benefit from earlier anti-obesity interventions. We performed a retrospective chart review of women from the Breast Cancer Program Longitudinal Repository (BCPLR) at Johns Hopkins diagnosed with hormone receptor-positive Stage I-III breast cancer from 2010 to 2020. We investigated obesity (measured by body mass index [BMI]) over time, patient and tumor characteristics, as well as treatment and recurrence. We observed a significant ≥5% increase in BMI from diagnosis to most recent follow-up (p = 0.009), particularly among those who were overweight at diagnosis (p = 0.003). Additionally, among those up to 5 years since diagnosis, there was a significant association between experiencing a ≥0.1 kg/m2 increase per year since diagnosis and baseline BMI status (p = 0.009). A ≥0.6 kg/m2 decrease in BMI was observed for participants with obesity at diagnosis (p = 0.006). Our study highlights (i) the significant burden of obesity in women with a history of breast cancer and (ii) higher risks for increases in BMI and shifts in class of obesity among women who are overweight at diagnosis.

Rett Syndrome and CDKL5 Deficiency Disorder: From Bench to Clinic.

Rett syndrome (RTT) and CDKL5 deficiency disorder (CDD) are two rare X-linked developmental brain disorders with overlapping but distinct phenotypic features. This review examines the impact of loss of methyl-CpG-binding protein 2 (MeCP2) and cyclin-dependent kinase-like 5 (CDKL5) on clinical phenotype, deficits in synaptic- and circuit-homeostatic mechanisms, seizures, and sleep. In particular, we compare the overlapping and contrasting features between RTT and CDD in clinic and in preclinical studies. Finally, we discuss lessons learned from recent clinical trials while reviewing the findings from pre-clinical studies.