Latent class analysis of the sleep quality of night shift nurses and impact of shift-related factors on the occupational stress and anxiety.

AIMS: The objective of this study is to explore the various latent categories within the sleep quality of night shift nurses and to investigate whether shift-related factors predispose nurses to higher levels of occupational stress and anxiety. DESIGN: This is a cross-sectional study. METHODS: From November to December 2020, registered nurses from 18 tertiary hospitals and 16 secondary hospitals in Chongqing were selected through convenience sampling for this study. Latent class analysis was used to investigate the sleep quality of nurses working night shifts. Furthermore, univariate analysis and logistic multivariate analysis were utilized to identify the contributing factors to occupational stress and anxiety. RESULTS: The four latent categories of Pittsburgh Sleep Quality Index for night shift nurses were identified as 'Low Sleep Disorder Group' (56.34%), 'Moderate Sleep Disorder Group' (37.27%), 'High Sleep Disorder Non-Reliant on Sleeping medication Group' (4.89%) and 'High Sleep Disorder Reliant on Sleeping medication Group' (1.50%). The results showed that having a night-shift frequency of 3-4 times per month, night-shift durations of 9-12 h, sleep time delay after night shift (≥2 h), total sleep time after night shift less than 4 h were shift-related factors that increased the levels of occupational stress and anxiety. CONCLUSION: The sleep quality of night shift nurses demonstrates heterogeneity and can be classified into four latent categories. Higher frequency of night shifts, extended work hours and insufficient rest time are all associated with increased levels of occupational stress and anxiety. IMPACT: By identifying the four latent categories of sleep quality among night shift nurses, this study sheds light on the relationship between sleep patterns and levels of occupational stress and anxiety. These findings have important implications for healthcare institutions in the management of nurse well-being and work schedules. PATIENT OR PUBLIC CONTRIBUTION: No patient or public contribution.

Prenatal diagnosis for fetuses with isolated and non-isolated congenital heart defects using chromosomal microarray and exome sequencing.

OBJECTIVE: To investigate the use of chromosomal microarray (CMA) and Exome sequencing (ES) in fetuses with congenital heart disease (CHD). METHODS: The Fetal Medicine Unit of Shanghai First Maternity and Infant Hospital records were reviewed to ascertain all cases diagnosed with CHD by level 2 ultrasound examination between 2016 and 2019. Cases were categorized as isolated or associated with other abnormalities or fetal growth restriction. CMA was offered to all cases as a first-line genetic test followed by ES when CMA was non-diagnostic. RESULTS: Of the 586 ascertained, 84 (14.3%) had causative CMA abnormality, of which 8.8% (35/400) were in fetuses with isolated CHD and 26.3% (49/186) in those with other abnormalities. ES was performed in 47 cases with a negative CMA. Causative variants were identified in two (10.5%, 2/19) isolated cases and four(14.3%, 4/28) with other abnormalities. CONCLUSION: Invasive procedures with CMA should be offered in pregnancies complicated by both non-isolated and isolated cardiac abnormalities. When CMA is not diagnostic, ES can add diagnostic value in both groups and should be considered even for fetuses with an isolated CHD.

Pregnancy Loss After Amniocentesis with Double-Needle Insertions in Twin Pregnancies.

The aim of this study was to determine the pregnancy loss rate of amniocentesis with double-needle insertions in twin pregnancies. This was a retrospective study of twin pregnancies who underwent amniocentesis with double-needle insertion between 2010 and 2019 at a single center. The pregnancy loss rates were recorded as single or double fetal loss before 24 weeks' gestation and within 4 weeks after the procedure. Risk factors for pregnancy loss after amniocentesis were also assessed. A total of 678 twin pregnancies with amniocentesis were finally included. The pregnancy loss rates before 24 weeks' gestation and within 4 weeks after the procedure were 0.9% and 1.9%, respectively. Only one fetal loss was presumed to be a direct result of the procedure. All other cases were complicated by structural or chromosomal anomalies. Twin pregnancies with abnormal ultrasound findings had a significantly higher rate of pregnancy loss with a relative risk of 4.81 (95% CI [1.03, 22.2]). Our study showed a low pregnancy loss rate after amniocentesis in twin pregnancies with double-needle insertions technique of sampling, which can help decision making in prenatal screening and diagnosis for twin pregnancies.

Prenatal diagnosis and outcome of fetal hyperechogenic kidneys in the era of antenatal next-generationsequencing.

BACKGROUND: Fetalhyperechogenickidneys (HEK)are associated with a wide range of etiologies and prognoses. Prenatal counselling and management can be extremely challenging, especially for isolated HEK. METHODS: A total of 28 pregnancies were screened by ultrasonography with HEK from March 1, 2016 to December 31, 2020. Genetic testings for aneuploidy and copy number variations (CNVs) are routine during the investigation for etiologies of fetal HEK in our unit. Trio-whole exome sequencing(WES) was offered to the family when karyotyping and microarray were not diagnostic.A systematic review (SR) was conducted to use the authoritative literature retrieval databases describing genetic testings' results in prenatal HEK cases. RESULTS: In the 28 HEK fetuses, 2 (7.14%) cases were identified with chromosome abnormalities and 6 (21.43%) cases were detected with pathogenic CNVs. Through trio-WES analysis, pathogenic or likely pathogenic variations were detected in the following genes: PKD1, BBS2, BBS9, HNF1B, PKHD1 and ETFA in another 10 (35.71%) fetuses. And the remaining 10 (35.71%) cases were undiagnosed. The pooled data from all reviewed studies indicate that HNF1B gene heterozygous deletion or mutation are the most common genetic causes associated with HEK. CONCLUSION: This is the first study to accurately describe the genotype ratio at different levels of genetic testing associated with fetal HEK. Our study has suggested that trio-WES could improve the detection rate and efficiency ofidentification genetic pathologies in fetuseswith isolated HEK. The WES results provide new evidences to guide prenatal counseling and management.

The correlation between feeding intolerance and poor prognosis of patients with severe neurological conditions: a case-control study.

BACKGROUND: This study aims to investigate the current status of feeding intolerance (FI) among patients with severe neurological conditions and to further determine the correlation between FI and their poor prognosis. METHODS: This study performed a retrospective analysis of the medical data of 58 patients from January 2017 and December 2017. Patients were divided into two groups according to modified Rankin Scale (mRS) scores. Logistic regression was used to analyze the relevant factors for the poor prognosis of these patients. RESULTS: General data analysis showed that age and diagnosis(stroke) were significantly different between the two groups (P < 005). Univariate analysis showed that APACHE II score, vomiting within 3 days of NICU admission, gastrointestinal bleeding within 3 days of NICU admission, and occurrence of FI within 3 days of NICU admission were all risk factors for a poor prognosis of these patients (P < 005). Multivariate logistic regression analysis showed that FI within 3 days of NICU admission (OR 8026, 95%CI (1550-26039)) and diagnosis (stroke) (OR 10654, 95%CI (1746-21291)) were independent factors for a poor prognosis of patients with severe neurological conditions. CONCLUSION: The incidence of early FI in stroke patients is correlated with a poor prognosis.

Risk Factors and Predictive Model of Diarrhea Among Patients with Severe Stroke.

OBJECTIVE: To investigate the risk factors and predictive model of diarrhea among patients with severe stroke. METHODS: The study analyzed the retrospective clinical data of patients with new-onset stroke who had been admitted to the intensive care unit at the Department of Neurology of X Hospital, between September 2017 and April 2018. All data were analyzed with a binary logistic regression, and a logistic regression equation was used to build a predictive model of diarrhea among patients with severe stroke. RESULTS: A total of 153 patients with severe stroke were included in this study, including 45 patients (29.41%) with diarrhea. The binary logistic multivariate analysis showed that the National Institutes of Health Stroke Scale score at admission (odds ratio [OR], 1.123; 95% confidence interval [CI], 1.016-1.242), the Glasgow Coma Scale score at admission (OR, 1.563; 95% CI, 1.048-2.330), antibiotic use (OR, 2.168; 95% CI, 1.041-4.514), gavage feeding time (OR, 1.260; 95% CI, 1.098-1.445), and hospital stay before the occurrence of diarrhea (OR, 0.652; 95% CI, 0.552-0.770). The receiver operating characteristic curve was 0.862 (95% CI, 0.799-0.925), the specificity was 0.778, and the sensitivity was 0.843. CONCLUSIONS: The National Institutes of Health Stroke Scale score at admission, the Glasgow Coma Scale score at admission, antibiotic use, gavage feeding time, and hospital stay before the occurrence of diarrhea independently predict diarrhea among patients with severe stroke. This model can be used to predict the risk of diarrhea among patients with severe stroke.

Intrauterine phenotype features of fetuses with Williams-Beuren syndrome and literature review.

Williams-Beuren syndrome (WBS) is a well-defined multisystem chromosomal disorder that is caused by a chromosome 7q11.23 region heterozygous deletion. We explored prenatal diagnosis of WBS by ultrasound as well as multiple genetic methods to characterize the structural variants of WBS prenatally. Expanded noninvasive prenatal testing (NIPT-plus) was elected as a regular prenatal advanced screen for risk assessments of fetal chromosomal aneuploidy and genome-wide microdeletion/microduplication syndromes at the first trimester. At the second and three trimester, seven prenatal cases of WBS were evaluated for the indication of the invasive testing, the ultrasound features, cytogenetic, single-nucleotide polymorphism array (SNP array), and fluorescent quantitative PCR (QF-PCR) results. The NIPT-plus results for seven fetuses were low risk. All cryptic aberrations were detected by the SNP array as karyotyping analyses were negative. Subsequently, QF-PCR further confirmed the seven deletions. Combining our cases with 10 prenatal cases from the literature, the most common sonographic features were intrauterine growth retardation (82.35%, 14/17) and congenital cardiovascular abnormalities (58.82%, 10/17). The manifestations of cardiovascular defects mainly involve supravalvar aortic stenosis (40%, 4/10), ventricular septal defect (30%, 3/10), aortic coarctation (20%, 2/10), and peripheral pulmonary artery stenosis (20%, 2/10). To the best of our knowledge, this is the first largest prenatal study of WBS cases with detailed molecular analysis. Aortic coarctation combined with persistent left superior vena cava and right aortic arch cardiovascular defects were first reported in prenatal WBS cases by our study.

The correlation between feeding intolerance and poor prognosis of patients with severe neurological conditions: a case-control study.

Background: This study aims to investigate the current status of feeding intolerance (FI) among patients with severe neurological conditions and to further determine the correlation between FI and their poor prognosis.Methods: This study performed a retrospective analysis of the medical data of 58 patients from January 2017 to December 2017. Patients were divided into two groups according to modified Rankin Scale (mRS) scores. Logistic regression was used to analyze the relevant factors for the poor prognosis of these patients.Results: General data analysis showed that age and diagnosis(stroke) were significantly different between the two groups (P < 0.05). Univariate analysis showed that APACHE II score, vomiting within 3 days of NICU admission, gastrointestinal bleeding within 3 days of NICU admission and occurrence of FI within 3 days of NICU admission were all risk factors for a poor prognosis of these patients(P < 0.05). Multivariate logistic regression analysis showed that FI within 3 days of NICU admission(OR 8.026, 95%CI(1.550-26.039)) and diagnosis(stroke)(OR 10.654, 95%CI (1.746-21.291)) were independent factors for a poor prognosis of patients with severe neurological conditions.Conclusion: The incidence of early FI in stroke patients is correlated with a poor prognosis.

[Prenatal diagnosis for a pedigree affected with Wolf-Hirschhorn syndrome due to a subtle chromosomal translocation].

OBJECTIVE: To make molecular diagnosis of an infant affected with severe developmental delay and multiple birth defects, assisting prenatal diagnosis for the second pregnancy. METHODS: Standard G-banded karyotyping was performed for the fetus and his parents. Single nucleotide polymorphism array (SNP array) was used to detect submicroscopic chromosomal aberration. Fluorescence in situ hybridization (FISH) was employed to determine the parental origin of the aberration. RESULTS: Both the proband and the fetus harbored a 5.4 Mb distal 4p deletion and a 6.9 Mb distal 6q duplication. FISH confirmed that the mother has carried a balanced translocation involving 4p and 6q. CONCLUSION: The unbalanced chromosomal aberration in the proband and the fetus were both derived from the mother. Both patients showed a Wolf-Hirschhorn syndrom phenotype and partial phenotype of 6q trisomy. SNP array combined with FISH are essential for the detection of cryptic chromosomal aberrations which may be missed by coventional karyotyping analysis.

Risk Factors for Post-Acute Coronary Syndrome Depression: A Meta-analysis of Observational Studies.

BACKGROUND: The incidence of depression is very common among patients with post-acute coronary syndrome (ACS) and leads to adverse outcomes. AIMS: The aim of this meta-analysis was to detect risk factors for depression among patients with ACS and to provide clinical evidence for its prevention. METHODS: The authors followed the Preferred Reporting Items for Systematic Reviews and Meta-Analyses guideline to search the PubMed, Web of Science, EMBASE, and EBSCO databases from January 1996 to March 2018. Data that met the inclusion criteria were extracted to calculate odds ratios (ORs) and 95% confidence intervals (CIs) for the risk factors of post-ACS depression. RESULTS: A total of 30 articles met the inclusion criteria, and 25 risk factors were found to be associated with depression. The top 5 risk factors are as follows: antidepression treatment (OR, 4.25; 95% CI, 3.41-5.31), housewife status (OR, 4.17; 95% CI, 1.83-9.53), history of depressive disorders (OR, 3.52; 95% CI, 2.69-4.61), widow status (OR, 2.34; 95% CI, 1.05-5.21), and history of congestive heart failure (OR, 2.03; 95% CI, 1.04-3.97). The authors also found that a married status, high education level, and employment are protective factors. CONCLUSION: Clinical personnel should be alerted with regard to the high risk factors of depression, including female gender, low education level, unmarried status, living alone, unemployed status, unhealthy lifestyle, and complications such as cardiovascular, respiratory, and metabolic diseases. In particular, staff should pay attention to a history of previous depression, be concerned with the psychological condition of the patient, and monitor and perform early interventions to reduce the incidence of depression.

Prenatal diagnosis of skeletal dysplasias using a targeted skeletal gene panel.

OBJECTIVE: This study aimed to perform an accurate and precise diagnosis for fetuses with suspected skeletal anomalies based on an incomplete and limited ultrasound phenotype. METHODS: Proband-only targeted skeletal gene panel sequencing was performed on 12 families who had fetuses with suspected skeletal anomalies based on ultrasound evaluations at a mean gestational age of 24 weeks and 3 days. The fetuses all had normal standard genetic testing yield (karyotyping and microarray). RESULTS: In 10 of 12 fetuses, panel sequencing provided a diagnosis or possible diagnosis with identification of variants in the following genes: FGFR3, COL1A2, IHH, COL2A1, and DYNC2H1. Two cases revealed novel variants in COL2A1 and DYNC2H1. CONCLUSIONS: Our study suggests that targeted skeletal gene panel sequencing is highly sensitive for prenatal diagnosis of fetuses presenting with unexpected ultrasound findings suggestive of a skeletal dysplasia.

Prenatal diagnosis of Wolf-Hirschhorn syndrome: from ultrasound findings, diagnostic technology to genetic counseling.

PURPOSE: Wolf-Hirschhorn syndrome (WHS) is a contiguous gene syndrome due to terminal chromosome 4p deletions. We explored prenatal diagnosis of WHS by ultrasound as well as karyotype and single nucleotide polymorphism array (SNP array) to characterize the structural variants of WHS prenatally. METHODS: Ten prenatal cases of WHS were evaluated for the indication of the invasive testing, the ultrasound features, and cytogenetic and microarray results. RESULTS: Eight cases were diagnosed by karyotyping and SNP array, while two cases were detected only by SNP array. Combining our cases with 37 prenatal cases from the literature, the most common sonographic features were IUGR (97.7%) and typical facial appearance (82.9%). Other less common phenotypes included renal hypoplasia (36.2%), cardiac malformation (29.8%), cleft lip and palate (25.5%), cerebral abnormalities (25.5%), skeletal anomalies (21.3%), and increased nuchal translucency/nuchal fold thickness (NT/NF) (19%). CONCLUSIONS: The most common intrauterine phenotypes of WHS were severe IUGR and typical facial appearance with other less consistent ultrasound findings. Noninvasive prenatal testing (NIPT) is one very promising screening tool for WHS. SNP array can improve diagnostic precision for detecting WHS, especially for the cryptic aberrations that cannot be identified by the traditional karyotyping. Ectopic kidney may be a previously unrecognized phenotype of WHS.

Targeted gene panel sequencing prenatally detects two novel mutations of DYNC2H1 in a fetus with increased biparietal diameter and polyhydramnios.

BACKGROUND: Genetic skeletal disorders (GSDs) are clinically and genetically heterogeneous with more than 350 genes accounting for the diversity of disease phenotypes. Prenatal diagnosis of these disorders has been challenging because of the limited but variable prenatal phenotypes, highlighting the need of a novel genetic approach. Short-rib polydactyly syndrome (SRPS) Type III is an autosomal recessive GSD characterized by extreme narrowness of the thorax, severely shortened tubular bones, polydactyly and multiple malformations. METHODS: Cytogenetic and molecular analyses using GTG-banding, single nucleotide polymorphism array and a novel GSDs targeted gene panel sequencing were performed in a 24 weeks fetus with increased biparietal diameter (BPD), short limbs, narrow thorax and polyhydramnios. RESULTS: No chromosomal abnormalities and pathogenic copy number variations (CNVs) were detected in the fetus. Two novel compound heterozygous mutations c.2992C > T and c.12836G > C in the DYNC2H1 gene were identified by targeted genes panel sequencing. A literature review was performed to delineate the prenatal phenotype of SRPS Type III. CONCLUSION: This is the first report of prenatal diagnosis of DYNC2H1 mutations causing SRPS Type III in a fetus with increased BPD associated with polyhydramnios in China. Our findings expand the mutation spectrum of DYNC2H1 in this rare disease and demonstrate that targeted gene panel capture followed by next-generation sequencing (NGS) is an efficient and cost-effective method to perform a molecular prenatal diagnosis of a rare genetic skeletal disorder.

Research on the cause of death for severe stroke patients.

AIMS AND OBJECTIVES: To explore the characteristics of mortality among severe stroke patients, analyse their causes of death and provide evidence for improving the survival rate of stroke patients. BACKGROUND: Stroke is an important fatal and disabling disease that poses a large burden on its patients, and its high death rates have caused substantial concern to the World Health Organization. DESIGN: A retrospective case-control study. METHODS: A total of 188 patients who died of stroke in the neurological intensive care unit of the First Affiliated Hospital of Chongqing Medical University from January 2012-December 2015 were selected as cases. Additionally, 188 stroke survivors from the same neurological intensive care unit were randomly selected as paired cases. The clinical characteristics of the severe stroke patient deaths were analysed, and a univariate analysis was conducted to determine potential mortality risk factors. A logistic regression analysis was then conducted to determine the independent risk factors of mortality. RESULTS: We investigated a total of 231 cases of death in neurological intensive care unit patients, 188 of whom died of stroke. Therefore, the death rate from stroke accounted for 81.3% of the total population, with ischaemic, haemorrhagic and mixed strokes accounting for 47.19%, 26.84% and 7.36% of the patients, respectively. The leading cause of death was central nervous system-related causes (central respiratory and circulatory failure, brain herniation), followed by multisystemic causes. The independent risk factors of death among the neurological intensive care unit patients were as follows: brain herniation (OR = 18.15), multiple organ failure (OR = 13.12), dyslipidemia (OR = 4.64), community-acquired lung infection (OR = 4.15), use of mechanical ventilation (OR = 3.37), hypoproteinemia (OR = 2.29), history of hypertension (OR = 2.03) and hospital-acquired pneumonia (OR = 1.75). CONCLUSIONS: The most common cause of death in stroke patients was damage to the central nervous system. Independent risk factors were brain herniation, multiple organ failure, dyslipidemia, community-acquired lung infection, the use of mechanical ventilation, hypoproteinemia, a history of hypertension and hospital-acquired pneumonia. Clinicians should be aware of the presence and possible effects of these conditions. Early prevention, monitoring and intervention to modify controllable risk factors will improve patient prognosis. RELEVANCE TO CLINICAL PRACTICE: Clinicians should be aware of the multiple independent risk factors of death and implement timely treatment measures to reduce the incidence of death in severe stroke patients.

Risk factors for lung infection in stroke patients: a meta-analysis of observational studies.

BACKGROUND: The aims of this meta-analysis were to evaluate the risk factors associated with lung infections in stroke patients and to provide evidence for prevention decisions. METHODS: We searched the Embase, PubMed, EBSCO and Web of Science databases to collect studies from January 2000 to July 2015. RESULTS: The meta-analysis identified 23 risk factors for lung infections in stroke patients, and the top 5, ranked by order according to odds ratio values (95% confidence interval), were as follows: multiple vertebrobasilar stroke, 22.99 (4.04, 130.83); National Institutes of Health Stroke Scale score >15 points, 14.63 (8.54, 25.08); mechanical ventilation, 10.20 (7.15, 14.57); nasogastric tube use, 9.87 (6.21, 15.70); and dysphagia, 7.50 (2.60, 21.65). CONCLUSION: Preventive measures should be taken against these risk factors to reduce the incidence of lung infection.

The efficacy and safety of brivaracetam at different doses for partial-onset epilepsy: a meta-analysis of placebo-controlled studies.

OBJECTIVE: This meta-analysis systematically assessed the efficacy and safety of different doses of brivaracetam (BRV) compared with placebo as adjunctive therapy for adults with partial-onset epilepsy. METHODS: Electronic and clinical trials databases were searched for randomized controlled trials of BRV published up to May 2015. We assessed the risk of bias of the included studies using the Cochrane Risk of Bias tool. The outcomes of interest included 50% responder rates, seizure freedom, the incidence of withdrawal and treatment-emergent adverse events (TEAEs). RESULTS: Five trials met the inclusion criteria. Compared with placebo, 20, 50, 100 and 150 mg/day BRV was associated with significantly higher 50% responder rates. In addition, the effect of 50 mg BRV on seizure freedom was significantly different than that of placebo. Both fatigue and nasopharyngitis were significantly associated with 20 mg BRV, whereas fatigue and irritability were associated with 50 mg BRV. Somnolence was associated with 150 mg BRV. No significant differences were observed for the other common TEAEs. CONCLUSION: The use of BRV at doses > 5 mg/day resulted in statistically significant reduction in seizure frequency in respect to the 50% responder rate. BRV was reasonably tolerated by patients. These findings warrant confirmation in future studies.

Characteristics and prognosis of pulmonary infection in patients with neurologic disease and hypoproteinemia.

OBJECTIVE: To examine the characteristics and the prognostic influence of pulmonary infections in neurologic disease patients with mild-to-severe hypoproteinemia. METHODS: We used a retrospective survey method to analyze the characteristics and prognoses of 220 patients with hypoproteinemia complicated with pulmonary infection in the Internal Medicine-Neurology Intensive Care Unit at the First Affiliated Hospital of Chongqing Medical University from January 2010 to December 2013. The patients were divided into mild, moderate and severe hypoproteinemia groups according to their serum albumin levels. The analysis included patient age, sex, acute physiology and chronic health evaluation (APACHE II score), and characteristics of the pulmonary infection, nutritional support and prognosis, among others. RESULTS: Differences in the general information of the 220 cases of hypoalbuminemia patients complicated with varying degrees of pulmonary infection (APACHE II score, age, disease distribution) were statistically significant. The pulmonary infection onset time and pathogen susceptibility in the patients with mild-to-severe hypoalbuminemia were not significantly different. Pulmonary infection onset was more frequently observed within the first 3-11 days following admission in all groups. The nutritional support method did not significantly influence serum albumin protein levels. However, the neurological intensive care unit stay length, total hospitalization cost and disease distribution were significantly different among the patient groups. CONCLUSIONS: Patients with cerebrovascular disease, intracranial infections and epilepsy complicated with pulmonary infection represent the high-risk groups for hypoalbuminemia. The Acinetobacter baumannii complex represents the main group of pathogenic bacteria causing lung infections, and the high-risk period for lung infections is 3-11 days after the occurrence of hypoalbuminemia. Patients with severe hypoalbuminemia complicated with pulmonary infection have the worst prognoses.