Prospective studies of infants at familial risk for autism spectrum disorder (ASD) have yielded insights into the earliest signs of the disorder but represent heterogeneous samples of unclear ...aetiology. Complementing this approach by studying cohorts of infants with monogenic syndromes associated with high rates of ASD offers the opportunity to elucidate the factors that lead to ASD.
We present the first report from a prospective study of ten 10-month-old infants with neurofibromatosis type 1 (NF1), a monogenic disorder with high prevalence of ASD or ASD symptomatology. We compared data from infants with NF1 to a large cohort of infants at familial risk for ASD, separated by outcome at age 3 of ASD (
= 34), atypical development (
= 44), or typical development (
= 89), and low-risk controls (
= 75). Domains assessed at 10 months by parent report and examiner observation include cognitive and adaptive function, sensory processing, social engagement, and temperament.
Infants with NF1 showed striking impairments in motor functioning relative to low-risk infants; this pattern was seen in infants with later ASD from the familial cohort (HR-ASD). Both infants with NF1 and the HR-ASD group showed communication delays relative to low-risk infants.
Ten-month-old infants with NF1 show a range of developmental difficulties that were particularly striking in motor and communication domains. As with HR-ASD infants, social skills at this age were not notably impaired. This is some of the first information on early neurodevelopment in NF1. Strong inferences are limited by the sample size, but the findings suggest implications for early comparative developmental science and highlight motor functioning as an important domain to inform the development of relevant animal models. The findings have clinical implications in indicating an important focus for early surveillance and remediation in this early diagnosed genetic disorder.
Objectives: We examined whether established sex differences in suicide rates persist when adjustments are made for potential misclassification of deaths in children and youth. Methods: This is a ...retrospective, descriptive study of 1,294 suicides, 961 accidental and 254 undetermined deaths occurring between January 1, 2000 and December 31, 2007, among persons aged 10 to 25 years in Ontario, Canada. Using data from Coroner's records, causes of death were reclassified based on two different misclassification criteria. Actual and reclassified suicide rates were calculated by sex and age group (with 95% confidence intervals) and by year of death. Results: Males aged 16-25 years accounted for the majority of suicides (68.9%). Asphyxia was the most common cause of suicide in both sexes. While suicides by shooting were almost exclusive to males, suicides due to alcohol/drug toxicity were significantly higher in females. Both before and after reclassification of suicide deaths, sex differences in suicide rates emerged in the 16-25 years age group. In each study year, both actual and reclassified suicide rates were higher in males than females. Conclusions: Sex differences in suicide rates emerging in adolescence are unlikely to be due to misclassification. Other proposed explanations for sex differences in youth suicide rates should be investigated further. Objectifs : Déterminer si les différences attestées dans les taux de suicide des hommes et des femmes subsistent lorsqu'on les corrige pour d'éventuelles erreurs de classification des décès chez les enfants et les jeunes. Méthode : Cette étude rétrospective descriptive porte sur 1 294 suicides, 961 décès accidentels et 254 décès indéterminés survenus entre le 1er janvier 2000 et le 31 décembre 2007 chez les personnes de 10 à 25 ans en Ontario, au Canada. À l'aide des données des dossiers des coroners, nous avons reclassifié les causes de décès en fonction de deux critères de classification erronée différents. Les taux de suicide actuels et reclassifiés ont été calculés selon le sexe et le groupe d'âge (avec des intervalles de confiance de 95 %) et selon l'année du décès. Résultats : Les hommes de 16 à 25 ans représentaient la majorité des suicides (68,9 %). L'asphyxie était la cause de suicide la plus courante chez les deux sexes. Les suicides par balle étaient presque exclusivement le fait des hommes, mais les suicides par intoxication à l'alcool, aux drogues ou aux médicaments étaient sensiblement plus élevés chez les femmes. Avant et après la reclassification des décès par suicide, des différences entre les sexes dans les taux de suicide ont été observées dans le groupe des 16 à 25 ans. Pour chaque année de l'étude, les taux de suicide actuels et reclassifiés étaient plus élevés chez les hommes que chez les femmes. Conclusions : Les différences observées à l'adolescence dans les taux de suicide des hommes et des femmes ne sont probablement pas dues à des erreurs de classification. D'autres explications proposées des différences entre les sexes dans les taux de suicide des jeunes mériteraient des études plus poussées.
Factors associated with mortality in coronavirus disease 2019 patients on invasive mechanical ventilation are still not fully elucidated.
To identify patient-level parameters, readily available at ...the bedside, associated with the risk of in-hospital mortality within 28 days from commencement of invasive mechanical ventilation or coronavirus disease 2019.
Prospective observational cohort study by the global Coronavirus Disease 2019 Critical Care Consortium. Patients with laboratory-confirmed coronavirus disease 2019 requiring invasive mechanical ventilation from February 2, 2020, to May 15, 2021.
Patient characteristics and clinical data were assessed upon ICU admission, the commencement of invasive mechanical ventilation and for 28 days thereafter. We primarily aimed to identify time-independent and time-dependent risk factors for 28-day invasive mechanical ventilation mortality.
One-thousand five-hundred eighty-seven patients were included in the survival analysis; 588 patients died in hospital within 28 days of commencing invasive mechanical ventilation (37%). Cox-regression analysis identified associations between the hazard of 28-day invasive mechanical ventilation mortality with age (hazard ratio, 1.26 per 10-yr increase in age; 95% CI, 1.16-1.37;
< 0.001), positive end-expiratory pressure upon commencement of invasive mechanical ventilation (hazard ratio, 0.81 per 5 cm H
O increase; 95% CI, 0.67-0.97;
= 0.02). Time-dependent parameters associated with 28-day invasive mechanical ventilation mortality were serum creatinine (hazard ratio, 1.28 per doubling; 95% CI, 1.15-1.41;
< 0.001), lactate (hazard ratio, 1.22 per doubling; 95% CI, 1.11-1.34;
< 0.001), Paco
(hazard ratio, 1.63 per doubling; 95% CI, 1.19-2.25;
< 0.001), pH (hazard ratio, 0.89 per 0.1 increase; 95% CI, 0.8-14;
= 0.041), Pao
/Fio
(hazard ratio, 0.58 per doubling; 95% CI, 0.52-0.66;
< 0.001), and mean arterial pressure (hazard ratio, 0.92 per 10 mm Hg increase; 95% CI, 0.88-0.97;
= 0.003).
This international study suggests that in patients with coronavirus disease 2019 on invasive mechanical ventilation, older age and clinically relevant variables monitored at baseline or sequentially during the course of invasive mechanical ventilation are associated with 28-day invasive mechanical ventilation mortality hazard. Further investigation is warranted to validate any causative roles these parameters might play in influencing clinical outcomes.
This qualitative investigation explored a relatively understudied aspect of cultural diversity: feminism and religion in the lives of religiously diverse women. More specifically, structured ...interviews were used to investigate views of religion, women's issues, gender roles, culture, and feminism for a small group of Muslim and Christian women living in the United States. The data were analyzed using consensual qualitative research methods (
Hill, Thompson, & Williams, 1997
). Findings indicated a complex relationship between feminism, gender roles, culture, and religion for these women with the majority of the Muslim women reporting that their religion supports feminist principles and identifying themselves as feminist. Christian women were less willing to endorse the feminist label. Implications for multicultural feminist practice are discussed.
EXTRACORPOREAL shock-wave lithotripsy of gallstones was initially performed in vitro
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and in animals.
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Then, Sauerbruch and his colleagues in Munich,
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,
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followed by other ...investigators,
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reported the use of the method to treat gallstones in humans. In conjunction with extracorporeal shock-wave lithotripsy, the patients received the bile acid ursodiol alone or in combination with chenodiol orally to dissolve the fragments.
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In two recent papers
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,
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the feasibility of lithotripsy without bile acids was demonstrated. None of the studies, however, have defined the contribution of bile acids to the success of extracorporeal shock-wave lithotripsy. Accordingly, the aim of this study was to determine, . . .
Objective. To determine risk factors for serious infection during treatment with cyclophosphamide (CYC) and high‐dose corticosteroids in systemic lupus erythematosus (SLE).
Methods. Records of 100 ...SLE patients who had received CYC were examined for documentation of serious infections that occurred during CYC therapy and the subsequent 3 months.
Results. Infection occurred in 45 of 100 patients during CYC therapy. Patients with infection were more likely to have multiple organ disease (49% versus 29%; P = 0.04), a lower nadir in the white blood cell (WBC) count (2,818 versus 3,558 cells/μl; P = 0.02), and a higher maximum corticosteroid dose (195 versus 73 mg; P ≤ 0.01) than patients without infection. Infection occurred with equal prevalence in those who received intravenous (IV) (39%) or oral (40%) CYC, but was more common with use of sequential IV and oral therapy (68%). By multivariate analysis, the strongest association with infection was a WBC nadir ≤3,000 cells/μl (odds ratio OR 2.8, 95% confidence interval 95% CI 1.4–5.5) and use of sequential IV and oral CYC (OR 2.3, 95% CI 1.2–4.3). Infection occurred in more CYC‐treated patients taking concomitant steroids than in those treated with high‐dose steroids alone (45% versus 12%; P = 0.001). Fatal and opportunistic infections during CYC therapy were associated with a low WBC nadir and a high maximum corticosteroid dose.
Conclusion. The risk of serious infection in patients with SLE is influenced by the inclusion of CYC in the treatment regimen. The likelihood of infection in this setting is enhanced by CYC‐induced reductions in the total WBC count <3,000 cells/μl and by sequential IV and oral therapy. Both of these factors may be indicators of aggressive cytotoxic treatment, underscoring the need for close observation during treatment to minimize the risk of serious infection.
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