Corticosteroid treatment exacerbates nephrotic syndrome in a zebrafish model of magi2a knockout

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Contactins in the central nervous system: role in health and disease

Contactins are a group of cell adhesion molecules that are mainly expressed in the brain and play pivotal roles in the organization of axonal domains, axonal guidance, neuritogenesis, neuronal development, synapse formation and plasticity, axo-glia interactions and neural regeneration. Contactins comprise a family of six members. Their absence leads to malformed axons and impaired nerve conduction. Contactin mediated protein complex formation is critical for the organization of the axon in early central nervous system development. Mutations and differential expression of contactins have been identified in neuro-developmental or neurological disorders. Taken together, contactins are extensively studied in the context of nervous system development. This review summarizes the physiological roles of all six members of the Contactin family in neurodevelopment as well as their involvement in neurological/neurodevelopmental disorders.     

Factors associated with mortality in human immunodeficiency virus type 1-infected adults initiating protease inhibitor-containing therapy: role of education level and of early transaminase level elevation (APROCO-ANRS EP11 study). The Antiprotéases Cohorte Agence Nationale de Recherches sur le SIDA EP 11 study

This study attempted to identify factors associated with mortality among human immunodeficiency virus (HIV)-infected adults starting a protease inhibitor (PI)-containing therapy. Among 1155 patients consecutively enrolled in the APROCO study between May 1997 and June 1998, clinical characteristics were as follows: median age, 36 years; median baseline CD4 cell count, 288 cells/mm(3); and median baseline plasma HIV RNA load, 4.4 log(10) copies/mL. After a median follow-up of 27 months, 48 deaths had occurred, of which 44% were related to acquired immune deficiency syndrome. The mortality rate was 2.9% at 12 months. When both data at baseline and data at 4 months after the start of PI therapy were considered, factors independently associated with mortality were (Cox model) low baseline plasma creatinine level, low school education level, low CD4 cell count at 4 months, low hemoglobin level, and elevated hepatic transaminase levels. Thus, social context plus clinical and biologic data, including the 4-month response to treatment, must be considered in treatment of HIV-infected patients.     

Association of hospital and surgeon volume of total hip replacement with functional status and satisfaction three years following surgery

OBJECTIVE: To evaluate whether hospital volume and surgeon volume of total hip replacements (THRs) are associated with patient-reported functional status and satisfaction with surgery 3 years postoperatively. METHODS: We performed a population-based cohort study of a stratified random sample of Medicare beneficiaries who underwent elective primary or revision THR in Ohio, Pennsylvania, or Colorado in 1995. The primary outcomes were the self-reported Harris hip score and a validated scale measuring satisfaction with the results of surgery. Both outcomes were assessed 3 years postoperatively. Hospital volume was defined as the aggregate number of elective primary and revision THRs performed on Medicare beneficiaries in the hospital in 1995. High-volume hospitals were defined as those in which >100 such procedures are performed annually, and low-volume centers were defined as those in which 12 procedures per year. CONCLUSION: Hospital volume and surgeon volume have little effect on 3-year functional outcome following THR, after adjusting for patient sociodemographic and select clinical characteristics. However, satisfaction with primary THR is greater among patients who underwent surgery in high-volume centers, and satisfaction with revisions is greater among patients whose operations were performed by higher-volume surgeons. Referring clinicians should incorporate these findings into their discussion of referral choices with patients considering THR. Conclusions regarding the effect of volume on longevity of the implants must await longer-term followup studies. Finally, further research is warranted to better understand the association between hospital and surgeon procedure volume and patient satisfaction with surgery.     

Maternal Physical Activity Is Associated With Improved Blood Pressure Regulation During Late Pregnancy

Background

Cardiovagal baroreflex gain (cBRG) reflects an individual's ability to buffer swings in blood pressure. It is not well understood how this mechanism is influenced by physical activity in pregnancy. Because pregnant women tend to engage in low levels of moderate-to-vigorous physical activity (MVPA) and high levels of sedentary behaviour, we sought to determine the influence of MVPA and sedentary behaviour on cBRG and mean arterial pressure (MAP) in pregnancy.

Novel imaging techniques of the esophagus enhancing safety of left atrial ablation

This report describes different imaging techniques of the esophagus in four patients during radiofrequency catheter ablation of atrial fibrillation in the left atrium. A novel use of a mixture of barium cream and gadolinium diglutamate allowed esophageal imaging during magnetic resonance angiography of the left atrium and pulmonary veins. Barium cream used during computer tomography angiographic imaging of the left atrium and pulmonary veins allowed esophageal imaging. The esophagus was also imaged with an electroanatomic mapping system. Esophageal and left atrial imaging helped to avoid catheter ablation in left atrial tissue overlapping the esophagus.     

Early Myocardial Dysfunction and Benefits of Cardiac Treatment in Young X-Linked Duchenne Muscular Dystrophy Mice

Cardiovascular Drugs and Therapy - Duchenne muscular dystrophy (DMD) is associated with a progressive alteration in cardiac function. The aim of this study was to detect early cardiac dysfunction...     

A truncating PET100 variant causing fatal infantile lactic acidosis and isolated cytochrome c oxidase deficiency

Isolated mitochondrial complex IV (cytochrome c oxidase) deficiency is an important cause of mitochondrial disease in children and adults. It is genetically heterogeneous, given that both mtDNA-encoded and nuclear-encoded gene products contribute to structural components and assembly factors. Pathogenic variants within these proteins are associated with clinical variability ranging from isolated organ involvement to multisystem disease presentations. Defects in more than 10 complex IV assembly factors have been described including a recent Lebanese founder mutation in PET100 in patients presenting with Leigh syndrome. We report the clinical and molecular investigation of a patient with a fatal, neonatal-onset isolated complex IV deficiency associated with multiorgan involvement born to consanguineous, first-cousin British Asian parents. Exome sequencing revealed a homozygous truncating variant (c.142C>T, p.(Gln48*)) in the PET100 gene that results in a complete loss of enzyme activity and assembly of the holocomplex. Our report confirms PET100 mutation as an important cause of isolated complex IV deficiency outside of the Lebanese population, extending the phenotypic spectrum associated with abnormalities within this gene.