Retrospective analysis of fetal vertebral defects: Associated anomalies,etiologies, and outcome

Our objectives were to describe fetal cases of vertebral defects (VD), assess the diagnostic yield of fetal chromosomal analysis for VD and determine which investigations should be performed when evaluating fetal VD. We performed a retrospective chart review for fetuses with VD seen between 2006 and 2015. Cases were identified from CHU Sainte‐Justine's prenatal clinic visits, postmortem fetal skeletal surveys, and medical records. Cases with neural tube defects were excluded. Sixty‐six fetuses with VD were identified at a mean gestational age of 20 weeks. Forty‐seven (71.2%) had associated antenatal anomalies, most commonly genitourinary, skeletal/limb, and cardiac anomalies. Thirteen mothers (19.7%) had pregestational diabetes (95% CI [10.1%–29.3%]). Fifty‐three cases had chromosomal analysis. Three had abnormal results (5.6%): trisomy 13, trisomy 22, and 9q33.1q34.11 deletion. Thirty‐four (51.5%) pregnancies were terminated, one led to intrauterine fetal demise and 31 (46.9%) continued to term. Of 27 children who survived the neonatal period, 21 had congenital scoliosis and 3 had spondylocostal dysostosis. Seven had developmental delay. In conclusion, prenatal evaluation of fetuses with VD should include detailed morphological assessment (including fetal echocardiogram), maternal diabetes screening, and chromosomal microarray if non‐isolated. Our findings provide guidance about management and counseling after a diagnosis of fetal VD.     

LARP7 variants and further delineation of the Alazami syndrome phenotypic spectrum among primordial dwarfisms: 2 sisters

Alazami syndrome (AS) (MIM# 615071) is an autosomal recessive microcephalic primordial dwarfism (PD) with recognizable facial features and severe intellectual disability due to depletion or loss of function variants in LARP7. To date, 15 patients with AS have been reported. Here we describe two consanguineous Algerian sisters with Alazami PD due to LARP7 homozygous pathogenic variants detected by whole exome sequencing. By comparing these two additional cases with those previously reported, we strengthen the key features of AS: severe growth restriction, severe intellectual disability and some distinguishing facial features such as broad nose, malar hypoplasia, wide mouth, full lips and abnormally set teeth. We also report significant new findings enabling further delineation of this syndrome: disproportionately mild microcephaly, stereotypic hand wringing and severe anxiety, thickened skin over the hands and feet, and skeletal, eye and heart malformations. From previous reviews, we summarize the main etiologies of PD according to the involved mechanisms and cellular pathways, highlighting their clinical core features.     

Is romantic partner betrayal a form of traumatic experience? A qualitative study

According to a growing body of research, betrayal by a romantic partner is increasingly considered as a form of interpersonal trauma. Between 30% and 60% of betrayed individuals experience symptoms of post-traumatic stress disorder (PTSD), depression and anxiety to clinically meaningful levels. From a clinical perspective, this constellation of symptoms can be conceptualized as a stressor-related adjustment disorder. Yet, no qualitative research has examined the association between romantic betrayal and traumatic stress from the perspective of betrayed individuals. Face-to-face semi-structured interviews were conducted with 13 participants who had completed a clinical trial for a new treatment for adjustment disorder stemming from betrayal. Data were analysed using thematic content analysis. Although betrayal was experienced as a shocking and destabilizing event, and participants used trauma or ‘feeling traumatized’ as a metaphor to describe their experience, few had constructed their reaction as traumatic stress. In fact, participants reported experiencing difficulties understanding the intensity of their experience. However, when exposed to external sources (e.g., books and interviews by psychologists and researchers) that used a trauma and PTSD framework to explain the effects of betrayal, participants reported feeling clarity, validation and relief. Findings are discussed in the light of theoretical and clinical implications.     

Depression self-management support: A systematic review

Objective

To systematically review empirical evidence regarding the efficacy of depression self-management support (SMS) interventions for improving depression symptomatology and preventing relapse.

Methods

Pubmed and PsycINFO databases were searched for relevant articles on depression SMS interventions. Scanning of references in the articles and relevant reviews and communications with field experts yielded additional articles. Two independent reviewers analyzed the articles for inclusion and data was extracted from the selected articles.

Results

13 papers met the inclusion criteria and reported the results of six separate studies, including three pilot studies. The results were mostly positive. A majority of the trials assessing depression severity changes found SMS to be superior to care as usual. SMS interventions were found to improve self-management behaviors and self-efficacy. Mixed results were found concerning relapse rates. Promising results were found on assessments of functional status. Based on the findings, cost-effectiveness remains unclear.

Conclusion

SMS has been mostly examined through pilot studies with insufficient power. The results are promising, but larger randomized controlled trials are needed.

Practice implications

SMS interventions can be administered by non-physician professionals and are well accepted by patients, but more research is needed before we can recommend implementing specific depression SMS approaches in primary care.     

PART 2: Practice and research recommendations for quality developmental care in the NICU

Developmental care interventions, which may promote preterm infant's neurodevelopment during the hospitalization in the Neonatal Intensive Care Unit, should be implemented and integrated to care delivered by nurses, other healthcare professionals, and parents. These interventions may have an impact on the preterm infants' developing brain and optimize their short and long-term health outcomes. Based on a previous narrative overview, more high-quality research is still needed in this field. Nevertheless, best practice of developmental care can still be recommended to improve today's neonatal clinical practice. The aim of this article is to provide both practice and research recommendations according to the seven categories of developmental care interventions in the neonatal intensive care unit: family-centered care, sleep protection, assessment and management of pain, infant positioning, optimized infant-driven feeding, administration of human milk, and control of the environmental light and noise.     

Endothelial Piezo1 sustains muscle capillary density and contributes to physical activity

Piezo1 forms mechanically activated nonselective cation channels that contribute to endothelial response to fluid flow. Here we reveal an important role in the control of capillary density. Conditional endothelial cell–specific deletion of Piezo1 in adult mice depressed physical performance. Muscle microvascular endothelial cell apoptosis and capillary rarefaction were evident and sufficient to account for the effect on performance. There was selective upregulation of thrombospondin-2 (TSP2), an inducer of endothelial cell apoptosis, with no effect on TSP1, a related important player in muscle physiology. TSP2 was poorly expressed in muscle endothelial cells but robustly expressed in muscle pericytes, in which nitric oxide (NO) repressed the Tsp2 gene without an effect on Tsp1. In endothelial cells, Piezo1 was required for normal expression of endothelial NO synthase. The data suggest an endothelial cell–pericyte partnership of muscle in which endothelial Piezo1 senses blood flow to sustain capillary density and thereby maintain physical capability.     

Cytotoxic and endocrine-disrupting potential of atrazine, diazinon, endosulfan, and mancozeb in adrenocortical steroidogenic cells of rainbow trout exposed in vitro

An in vitro bioassay for detection and quantitative assessment of chemicals with the capacity to disrupt adrenal steroidogenesis has been developed and used to compare the cytotoxic and endocrine-disrupting potential of four pesticides. Enzymatically dispersed adrenocortical cells of rainbow trout (Oncorhynchus mykiss) were exposed in vitro to atrazine, diazinon, endosulfan, and mancozeb, and cortisol secretion in response to ACTH or dibutyryl-cAMP (dbcAMP) and cell viability were determined. The effective concentration, EC50 (concentration that inhibits cortisol secretion by 50%), the median lethal concentration, LC50 (concentration that kills 50% of the cells), and the LC50/EC50 ratio were established for the test pesticides. The pesticides were ranked as follows: EC50, endosulfan < diazinon < mancozeb < atrazine; LC50, diazinon < endosulfan < mancozeb < atrazine, with diazinon as the most cytotoxic. Endosulfan and mancozeb disrupted sites downstream of the cAMP-generating step of the cortisol synthetic pathway while atrazine seemed to act upstream from the cAMP step. The in vitro adrenal bioassay can be used for screening of adrenotoxicants and for mechanistic studies of adrenotoxicity.