Sept façons de faciliter le travail de l'équipe de chevet

Although classically considered a cornerstone of inpatient care, rounding at patients’ bedsides is increasingly being replaced by rounding in workrooms. Workroom rounds may provide a sense of efficiency and comfort, however bedside rounds have multiple benefits for patients, trainees and staff physicians. Alongside its benefits, there are human and institutional challenges when incorporating bedside rounding. This article aims to draw on our own experience of implementing bedside rounding at Kingston Health Sciences Centre, to guide staff physicians and institutions on how to implement bedside rounding effectively while overcoming its challenges. The following seven tips provide a framework to avoid pitfalls when implementing bedside team rounding on inpatient services.Bien que classiquement considéré comme la pierre angulaire des soins aux patients hospitalisés, les tournées médicales au chevet des patients sont de plus en plus remplacées par les tournées dans les salles d’enseignement. Bien que Les tournées en salle de travail puissent procurer un sentiment d'efficacité et de confort, les tournées au chevet présentent de multiples avantages pour les patients, les apprenants et les médecins superviseurs. Parallèlement à ses avantages, il existe des défis humains et institutionnels lors de l'intégration des tournéesau chevet du patient. Cet article vise à tirer parti de notre propre expérience de la mise en œuvre des tournéesau chevet au Kingston Health Sciences Centre, pour guider les médecins superviseurs et les institutions sur la façon de mettre en œuvre efficacement les tournées au chevet tout en surmontant ses défis. Les sept conseils suivants fournissent un cadre pour éviter les pièges lors de la mise en œuvre des tournées en équipes au chevet des patients hospitalisés

Fetal Renal Echogenicity Associated with Maternal Focal Segmental Glomerulosclerosis: The Effect of Transplacental Transmission of Permeability Factor suPAR

We report a case of a pregnant woman with nephrotic syndrome due to biopsy-proven focal segmental glomerulosclerosis (FSGS) whose fetus developed echogenic kidneys and severe oligohydramnios by 27 weeks of gestation. Maternal treatment with prednisone resulted in normalization of the amniotic fluid indices and resolution of fetal renal echogenicity. The newborn was noted to have transient renal dysfunction and proteinuria, resolving by 6 weeks postpartum. The transplacental passage of permeability factors is postulated to have caused both the fetal and newborn renal presentation, with significantly elevated levels of soluble urokinase-type plasminogen activator receptor (suPAR) noted in the cord blood. This case documents the transplacental maternal-fetal transmission of suPAR, demonstrating the potential for maternal-fetal transmission of deleterious, disease-causing entities, and adds to the differential diagnosis of fetal echogenic kidneys. Further, this is the first documentation of a fetal response to maternal systemic therapy

Seven ways to get a grip on facilitating bedside team rounding

Although classically considered a cornerstone of inpatient care, rounding at patients’ bedsides is increasingly being replaced by rounding in workrooms. Workroom rounds may provide a sense of efficiency and comfort, however bedside rounds have multiple benefits for patients, trainees and staff physicians. Alongside its benefits, there are human and institutional challenges when incorporating bedside rounding. This article aims to draw on our own experience of implementing bedside rounding at Kingston Health Sciences Centre, to guide staff physicians and institutions on how to implement bedside rounding effectively while overcoming its challenges. The following seven tips provide a framework to avoid pitfalls when implementing bedside team rounding on inpatient services.Bien que classiquement considéré comme la pierre angulaire des soins aux patients hospitalisés, les tournées médicales au chevet des patients sont de plus en plus remplacées par les tournées dans les salles d’enseignement. Bien que Les tournées en salle de travail puissent procurer un sentiment d'efficacité et de confort, les tournées au chevet présentent de multiples avantages pour les patients, les apprenants et les médecins superviseurs. Parallèlement à ses avantages, il existe des défis humains et institutionnels lors de l'intégration des tournéesau chevet du patient. Cet article vise à tirer parti de notre propre expérience de la mise en œuvre des tournéesau chevet au Kingston Health Sciences Centre, pour guider les médecins superviseurs et les institutions sur la façon de mettre en œuvre efficacement les tournées au chevet tout en surmontant ses défis. Les sept conseils suivants fournissent un cadre pour éviter les pièges lors de la mise en œuvre des tournées en équipes au chevet des patients hospitalisés

Fetal Renal Echogenicity Associated with Maternal Focal Segmental Glomerulosclerosis: The Effect of Transplacental Transmission of Permeability Factor suPAR

We report a case of a pregnant woman with nephrotic syndrome due to biopsy-proven focal segmental glomerulosclerosis (FSGS) whose fetus developed echogenic kidneys and severe oligohydramnios by 27 weeks of gestation. Maternal treatment with prednisone resulted in normalization of the amniotic fluid indices and resolution of fetal renal echogenicity. The newborn was noted to have transient renal dysfunction and proteinuria, resolving by 6 weeks postpartum. The transplacental passage of permeability factors is postulated to have caused both the fetal and newborn renal presentation, with significantly elevated levels of soluble urokinase-type plasminogen activator receptor (suPAR) noted in the cord blood. This case documents the transplacental maternal-fetal transmission of suPAR, demonstrating the potential for maternal-fetal transmission of deleterious, disease-causing entities, and adds to the differential diagnosis of fetal echogenic kidneys. Further, this is the first documentation of a fetal response to maternal systemic therapy

Homozygous/compound heterozygote RYR1 gene variants: Expanding the clinical spectrum.

The ryanodine receptor 1 (RYR1) is a calcium release channel essential for excitation-contraction coupling in the sarcoplasmic reticulum of skeletal muscles. Dominant variants in the RYR1 have been well associated with the known pharmacogenetic ryanodinopathy and malignant hyperthermia. With the era of next-generation gene sequencing and growing number of causative variants, the spectrum of ryanodinopathies has been evolving with dominant and recessive variants presenting with RYR1-related congenital myopathies such as central core disease, minicore myopathy with external ophthalmoplegia, core-rod myopathy, and congenital neuromuscular disease. Lately, the spectrum was broadened to include fetal manifestations, causing a rare recessive and lethal form of fetal akinesia deformation sequence syndrome (FADS)/arthrogryposis multiplex congenita (AMC) and lethal multiple pterygium syndrome. Here we broaden the spectrum of clinical manifestations associated with homozygous/compound heterozygous RYR1 gene variants to include a wide range of manifestations from FADS through neonatal hypotonia to a 35-year-old male with AMC and PhD degree. We report five unrelated families in which three presented with FADS. One of these families was consanguineous and had three affected fetuses with FADS, one patient with neonatal hypotonia who is alive, and one individual with AMC who is 35 years old with normal intellectual development and uses a wheelchair. Muscle biopsies on these cases demonstrated a variety of histopathological abnormalities, which did not assist with the diagnostic process. Neither the affected living individuals nor the parents who are obligate heterozygotes had history of malignant hyperthermia

De Novo Missense Variants in TRAF7 Cause Developmental Delay, Congenital Anomalies, and Dysmorphic Features

TRAF7 is a multi-functional protein involved in diverse signaling pathways and cellular processes. The phenotypic consequence of germ-line TRAF7 variants remains unclear. Here we report missense variants in TRAF7 in seven unrelated individuals referred for clinical exome sequencing. The seven individuals share substantial phenotypic overlap, with developmental delay, congenital heart defects, limb and digital anomalies, and dysmorphic features emerging as key unifying features. The identified variants are de novo in six individuals and comprise four distinct missense changes, including a c.1964G>A (p.Arg655Gln) variant that is recurrent in four individuals. These variants affect evolutionarily conserved amino acids and are located in key functional domains. Gene-specific mutation rate analysis showed that the occurrence of the de novo variants in TRAF7 (p = 2.6 x 10(-3)) and the recurrent de novo c.1964G>A (p.Arg655Gln) variant (p = 1.9 x 10(-8)) in our exome cohort was unlikely to have occurred by chance. In vitro analyses of the observed TRAF7 mutations showed reduced ERK1/2 phosphorylation. Our findings suggest that missense mutations in TRAF7 are associated with a multisystem disorder and provide evidence of a role for TRAF7 in human development