RÉSUMÉ
BACKGROUND: The COVID-19 pandemic has had a major impact on healthcare in many countries. This study assessed the effect of a nationwide lockdown in France on admissions for acute surgical conditions and the subsequent impact on postoperative mortality. METHODS: This was an observational analytical study, evaluating data from a national discharge database that collected all discharge reports from any hospital in France. All adult patients admitted through the emergency department and requiring a surgical treatment between 17 March and 11 May 2020, and the equivalent period in 2019 were included. The primary outcome was the change in number of hospital admissions for acute surgical conditions. Mortality was assessed in the matched population, and stratified by region. RESULTS: During the lockdown period, 57 589 consecutive patients were admitted for acute surgical conditions, representing a decrease of 20.9 per cent compared with the 2019 cohort. Significant differences between regions were observed: the decrease was 15.6, 17.2, and 26.8 per cent for low-, intermediate- and high-prevalence regions respectively. The mortality rate was 1.92 per cent during the lockdown period and 1.81 per cent in 2019. In high-prevalence zones, mortality was significantly increased (odds ratio 1.22, 95 per cent c.i. 1.06 to 1.40). CONCLUSION: A marked decrease in hospital admissions for surgical emergencies was observed during the lockdown period, with increased mortality in regions with a higher prevalence of COVID-19 infection. Health authorities should use these findings to preserve quality of care and deliver appropriate messages to the population.
Sujet(s)
COVID-19/prévention et contrôle , Admission du patient/statistiques et données numériques , Procédures de chirurgie opératoire/statistiques et données numériques , Maladie aigüe , Adulte , Sujet âgé , COVID-19/épidémiologie , Maladies de l'appareil digestif/chirurgie , Urgences , Femelle , France/épidémiologie , Humains , Mâle , Adulte d'âge moyen , Admission du patient/tendances , SARS-CoV-2 , Procédures de chirurgie opératoire/mortalité , Calculs urinaires/chirurgie , Plaies et blessures/chirurgieRÉSUMÉ
Spinal muscular atrophy (SMA) is a common autosomal recessive disorder resulting in loss of motor neurons. We have performed linkage analysis on a panel of families using nine markers that are closely linked to the SMA gene. The highest lod score was obtained with the marker D5S351 (Zmax = 10.04 at theta = O excluding two unlinked families, and Zmax = 8.77 at theta = 0.007 with all families). One type III family did not show linkage to the 5q13 markers, and in one type I consanguineous family the affected individual did not show homozygosity except for the marker D5S435. Three recombinants were identified with the closet centromeric marker, D5S435, which position the gene telomeric of this marker. These recombinants will facilitate finer mapping of the location of the SMA gene. Lastly, two families provide strong evidence for a remarkable variability in presentation of the SMA phenotype, with the age at onset in one family varying from 17 months to 13 years.
Sujet(s)
Chromosomes humains de la paire 5 , Amyotrophie spinale/génétique , Adolescent , Adulte , Enfant , Enfant d'âge préscolaire , Cartographie chromosomique , Consanguinité , Femelle , Marqueurs génétiques , Haplotypes , Homozygote , Humains , Nourrisson , Nouveau-né , Lod score , Mâle , PedigreeRÉSUMÉ
Renal tubular dysgenesis (RTD), with hypoplasia especially of renal proximal convoluted tubules and clinical neonatal anuria or oliguria, has been reported as a congenital familial (autosomal recessive) disease, variably with features of oligohydramnios, Potter syndrome, or pulmonary hypoplasia. A similar tubular lesion due to antenatal tubular atrophy has been reported for conjoined twins with twin-twin transfusion syndrome or acardia and in infants of mothers given antihypertensive agents, including angiotensin-converting enzyme (ACE) inhibitors, during pregnancy, and it has been seen as a unilateral lesion in young infants with renal artery stenosis due to arteritis or medial arterial calcinosis. The renal tubular changes in RTD are very like those of the "endocrine kidney" in experimental animals and resemble those of the renal tubular atrophy of end-stage kidney diseases such as glomerulonephritis, tubulointerstitial kidney disease, obstructive uropathy/pyelonephritis, graft rejection of transplanted kidneys, or the renal parenchymal changes seen with protracted dialysis therapy. Labeled lectins that differentially mark proximal convoluted, distal convoluted and connecting, and collecting tubules showed no distinctive differences in staining patterns of the hypoplastic renal tubules of infants and children with RTD, postnatal renal artery obstruction, or the various types of end-stage renal disease with the lectins used (PNA, GSLI, UEA, and LTA). The findings suggest that the renal tubular changes in some if not all the conditions studied are the result of renal ischemia. The reported familial RTD with hypernephronic nephromegaly may be a specific disorder, but other forms could reflect renal ischemia acquired in utero or in early or later postnatal life.