Non-isolated Group Research Articles

The Prenatal Ultrasound Diagnosis and Perinatal Outcome of Polydactyly: A Retrospective Cohort Study, 2016-2023.

To determine the significance of polydactyly identified on prenatal ultrasonography and provide a detailed analysis of characteristics and perinatal outcomes of fetal polydactyly. This is a retrospective cohort study of pregnancies with a postnatal diagnosis of fetal polydactyly between January 2016 and December 2023. The population was divided into 2 groups at postnatal diagnosis: the isolated polydactyly group and the nonisolated polydactyly group. Clinical data, prenatal ultrasonography, related genetic results, and postnatal outcomes were obtained. Our study cohort comprised 328 fetuses with polydactyly. The overall detection rate of polydactyly by prenatal ultrasound was 19.2%, and the first detection rate in the first-, second-, and third-trimester were 0.9%, 14.6%, and 3.7%, respectively. Preaxial polydactyly (PPD) of hand was the most common type and the most common type of foot polydactyly was postaxial polydactyly (PAP) both in the isolated group and in the nonisolated group; the central polydactyly is rare. Syndactyly was the most common abnormality complicated with polydactyly. Between the nonpolydactyly group, the isolatedpolydactyly group and the nonisolated polydactyly group, there was a significant difference in perinatal outcome (P < .001). The second trimester is the best gestational age for prenatal ultrasound detection of polydactyly. Polydactyly of hand was more likely PPD, while polydactyly of foot was more likely PAP. When polydactyly is detected by routine prenatal ultrasound, detailed ultrasound examination and prenatal counseling should be performed to determine the possibility of an underlying genetic syndrome.

Prenatal diagnosis of fetuses with absent/hypoplastic nasal bone in second-trimester using chromosomal microarray analysis.

Pathogenic copy number variants (pCNVs) are associated with fetal ultrasound anomalies, which can be efficiently identified through chromosomal microarray analysis (CMA). The primary objective of the present study was to enhance understanding of the genotype-phenotype correlation in fetuses exhibiting absent or hypoplastic nasal bones using CMA. Enrolled in the present study were 94 cases of fetuses with absent/hypoplastic nasal bone, which were divided into an isolated absent/hypoplastic nasal bone group (n = 49) and a non-isolated group (n = 45). All pregnant women enrolled in the study underwent karyotype analysis and CMA to assess chromosomal abnormalities in the fetuses. Karyotype analysis and CMA detection were successfully performed in all cases. The results of karyotype and CMA indicate the presence of 11 cases of chromosome aneuploidy, with trisomy 21 being the most prevalent among them. A small supernumerary marker chromosome (sSMC) detected by karyotype analysis was further interpreted as a pCNV by CMA. Additionally, CMA detection elicited three cases of pCNVs, despite normal findings in their karyotype analysis results. Among them, one case of Roche translocation was identified to be a UPD in chromosome 15 with a low proportion of trisomy 15. Further, a significant difference in the detection rate of pCNVs was observed between non-isolated and isolated absent/hypoplastic nasal bone (24.44% vs. 8.16%, p < .05). The present study enhances the utility of CMA in diagnosing the etiology of absent or hypoplastic nasal bone in fetuses. Further, isolated cases of absent or hypoplastic nasal bone strongly suggest the presence of chromosomal abnormalities, necessitating genetic evaluation through CMA.

Relationship between food environment, social isolation and diet quality in Brazil

Introduction. The COVID-19 pandemic has impacted diet quality in differentways. In this context, community, organizational and consumer nutrition environments can influence the eating pattern. Objective. The purpose of this study was to identify how quarantine during the COVID-19 pandemic changed the diet in Brazil. Materials and methods. A natural experiment organized into experimental (social-isolated group - SIG) and control groups (non-isolated group - CG) was conducted with data collection from an online survey at the beginning of the pandemic (T0) and in the less restrictive period of 2020 (T1). Pre-post improvements in diet quality (IDQ) were determined for the SIG and CG. Intro-intergroup changes were tested using the Mann–Whitney and Wilcoxon signed rank tests. The intervention effect was estimated using crude and adjusted difference- indifference in multilevel regression analysis accounting for repeated measures. Results. A sample of 565 Brazilian adults answered the questionnaire at T0 and T1. IDQ was favored twice or more by attitudes such as buying food directly from farmers/street markets, reducing requests for food delivery, and increasing time spent on eating activities and the frequency of cooking. The isolated group had no IDQ at T1, whereas the no isolated group, who worsened diet quality (6.1%) at T0, improved it at T1 (4.8%). Conclusions. The restrictive quarantine forced the non-isolated population to have an experience comparable to a food desert, negatively affecting their diet.

Retrospective analysis of the prognostic factors of fetal corpus callosum dysplasia

BackgroundTo analyze the genetic characteristics and long-term outcomes of fetuses with dysplasia of the corpus callosum (DCC) or partial agenesis of the corpus callosum (PACC).MethodsA total of 42 fetuses with DCC (n = 36) or PACC (n = 6) were retrospectively analyzed from January 2016 to December 2022 at the Peking University First Hospital. The cohort was categorized into isolated (15/42, 36%) and nonisolated groups (27/42, 64%), and differences in the genetic abnormalities and long-term outcomes between the two groups were analyzed. DCC was subdivided into short CC, thin CC, and thick CC. The outcomes of the three different types of DCC were analyzed and discussed.Results(1) Thirty-nine of the 42 cases underwent CMA (chromosomal microarray analysis) and CMA + WES (whole exome sequencing), with 13/15 cases in isolated group and 26/27 cases in nonisolated group. Only pathogenic or likely pathogenic (P/LP) variants were considered, identifying P/LP variants in 2/13 cases in isolated group and 12/26 cases in nonisolated group. There was no significant difference between the two groups (χ² = 3.566, P = 0.05897). (2) In the isolated group, 8 cases were terminated, and 7 cases were delivered. Postnatal follow-up detected 1 case of gross motor development delay one year after birth; no obvious abnormalities were found in the other six cases. In the nonisolated group, 21 cases were terminated, and 6 cases were delivered. Postnatal follow-up detected 4 cases of children with different degrees of language, motor and intelligence abnormalities; 1 case died 10 days after birth. No obvious abnormalities were observed in one case. Six cases (86%, 6/7) in the isolated group showed normal development, compared with 1 case (17%, 1/6) in the nonisolated group, with a significant difference (χ² = 6.198, P = 0.01279). (3) In DCC, the delivery rates of short CCs (18 cases), thin CCs (13 cases), and thick CCs (5 cases) were 17% (3/18), 54% (7/13), and 20% (1/5), respectively, with good outcomes observed in 0% (0/3), 71% (5/7), and 0% (0/1), respectively. P/LP variants were found in 6/17 cases of short CC, 3/12 cases of thin CC, and 2/5 cases of thick CC.ConclusionsFetuses with DCC or PACC combined with other structural abnormalities had a poor long-term prognosis compared with the isolated group. Patients with thin CCs had a higher probability of a good prognosis than those with short or thick CCs.

SOCIAL WELL-BEING OF OLDER PEOPLE IN ENGLAND SINCE THE PANDEMIC: DID ALREADY-ISOLATED OLDER ADULTS FARE WORSE?

Abstract The COVID-19 pandemic and actions to reduce transmission (including stay-at-home orders and workplace closures) have had an impact on actual and perceived social isolation and support across all age groups. There was a clear increase in social isolation during the pandemic, especially among older adults, potentially due to the heightened risks of complications and mortality if infected with the novel coronavirus. In England, employing data from the nationally representative English Longitudinal Study of Ageing and using pre- (2018/19) and during pandemic data (June/July 2020 and November/December 2020), we found that overall, older adults who were already experiencing social isolation prior to the pandemic (isolated group) experienced a larger rise in loneliness and drop in social contact during the pandemic than older adults who were previously socially connected (non-isolated group). Results are robust even when we account for the fact that respondents socially isolated (including those not married and with infrequent contact with relatives and friends) felt lonelier and less supported even before the pandemic, and when we adjust for demographic and socioeconomic characteristics. Expanding on this work with post-pandemic data collected between October 2021 and March 2023, this paper describes loneliness, social contact, and social support pre-, during, and post-COVID-19 pandemic and investigates whether and to what extent trends in social well-being continued to diverge between the isolated and non-isolated groups.

Social isolation during the COVID-19 pandemic is associated with the decline in cognitive functioning in young adults

Coronaviruses have caused widespread disease and death worldwide, leading to the implementation of lockdown measures and the closure of educational institutions in various countries. This research aims to investigate the impact of social isolation on the cognitive functioning of young students. The study included 84 subjects, with 48 being socially isolated and 36 non-isolated individuals. The participants’ mental health was assessed using the Mini-Mental State Examination (MMSE), while cognitive functions were evaluated through attention-switching tasks (AST), pattern recognition memory (PRM), and choice reaction time (CRT) tests utilizing the Cambridge Neuropsychological Automated Battery (CANTAB) software. The socially isolated group had an average age of 21.3 ± 1.1 years, whereas the non-isolated group had an average age of 22.8 ± 2.0 years. The MMSE scores were 25.8 ± 1.6 for the socially isolated group and 28.6 ± 1.3 for the non-isolated group. In terms of cognitive functioning, there were significant differences (p = 0.000) observed in the values of AST correct latency for non-switching blocks (blocks 3 and 5) between the socially isolated group (608.1 ± 139.2) and the non-isolated group (499.5 ± 67.8). Similarly, the AST mean correct latency for switching blocks (block 7) was significantly different (p = 0.012) between the socially isolated group (784.4 ± 212.5) and the non-isolated group (671.8 ± 175.6). The socially isolated group exhibited significantly higher values in AST correct mean latency, AST congruent mean latency, AST incongruent mean latency, and AST percent mean correct trials compared to the non-isolated group. Additionally, the PRM mean percent correct significantly differed (p = 0.000) between the isolated group (81.3 ± 12.0) and the non-isolated group (91.9 ± 9.2). The isolated group also showed a higher CRT correct mean latency (482.4 ± 128.9) than the non-isolated group (451.0 ± 59.0), however the difference was not significant. In conclusion, social isolation during the COVID-19 pandemic has resulted in a decline in the cognitive functioning of young students.

Association of social isolation with health status among community-dwelling Chinese older adults living with homecare services: a cross-sectional survey in Hong Kong.

Defined as having few social relationships or infrequent social contact with family, friends, and the community, social isolation is a public health crisis. We aimed to evaluate the prevalence of social isolation and explore the association between social isolation and health status among community-dwelling Chinese Older Adults living with homecare services. This is a cross-sectional survey with a structured questionnaire conducted among older adults aged ≥60 in the Central Kowloon District of Hong Kong during 2017-2018. Social isolation was assessed by the Lubben Social Network Scale-6 and a score less than 12 was defined as socially isolated. Six aspects of health status including fall risk, cognitive function, depression, activities of daily living (ADL), instrumental activities of daily living (IADL), and functional mobility were measured by standardized instruments. Multi-criteria decision analysis (MCDA) was applied to estimate an index to represent the overall health status of the respondents. Multivariate logistic/linear regression models were applied to examine the associations between social isolation and health status after adjusting the sociodemographic characteristics. Among the 1,616 participants included in this analysis, the mean age was 80.9 years, 66.3% were female and 41.4% were identified as socially isolated. Compared with the non-isolated group, the socially isolated group had higher proportions of males, divorced or unmarried, ever smoking and drinking, living alone, and living in public housing without religion. After adjusting for confounders, the odds ratios (OR) comparing the socially isolated vs. non-isolated groups were 2.52 (95%CI: 1.79, 3.56) for high fall risk, 1.51 (1.17, 1.94) for cognitive impairment, and 1.78 (1.31, 2.43) for depression. The socially isolated group increased the odds of abnormal ADL, IADL, and functional mobility by 105-150%, and decreased the overall health score by 5.30 (3.42, 7.18). We demonstrated the association of social isolation with poorer physical function and mental health and overall health status among the community-dwelling Chinese older adults living with homecare services. These findings provided new knowledge about the association of social isolation with both physical and mental function for daily living even for those receiving an integrated homecare service in the community. It implies that an unmet healthcare need existed when comparing the service scope of the current homecare services in the community. It also highlighted the need for targeted prevention and intervention initiatives among community-dwelling old adults to alleviate social isolation for better health and good functioning in the community.

Social isolation, psychological distress and resilience of Chinese college students during COVID-19 pandemic

ABSTRACT It has been 3 years since the first appearance of COVID-19 in China. During this time, social isolation was widely used as an important method to fight it. However, this measure had many negative effects on the mental health of college students. To better understand this issue, this study aims to explore the impact of social isolation and COVID-19-related stress on psychological distress among Chinese college students. Additionally, resilience has been evaluated as a key component of stress resistance in this situation. Coronavirus Stress Measure (CSM), the Connor-Davidson Resilience Scale (CD-RISC) and the Brief Symptom Inventory (BSI) were used in this study. A total of 388 Chinese college students participated in the survey via the Internet. Two groups (isolated group vs. non-isolated group) were divided according to whether they have been isolated from their classmates and families. Data analysis adopts t-test, F test and mediate effect analysis by SPSS21.0. (1) All factors, except resilience, were found to have lower scores in the isolated group; (2) significant correlations were found between all factors; (3) resilience partially mitigated the impact of COVID-19 stress on psychological symptoms. Social isolation has been found to be a significant factor contributing to negative psychological distress in Chinese college students. The COVID-19-related stress may increase the likelihood of psychological suffering among isolated group. Resilience can help reduce the negative effects of COVID-19 stress on college students. Therefore, providing appropriate psychological support tailored to different isolation situations is crucial.

Should Prenatal Chromosomal Microarray Analysis Be Offered for Pulmonary Atresia? A Single-Center Retrospective Study in China.

(1) Objective: To evaluate the application of chromosomal microarray analysis (CMA) in fetuses with pulmonary atresia (PA) and to explore the risk factors for predicting chromosomal imbalances and adverse perinatal outcomes. (2) Methods: This study investigated 428 cases of PA singleton pregnancies that were tested using CMA and quantitative fluorescent polymerase chain reaction (QF-PCR) as first-line genetic testing. The PA cases were divided into two groups: an isolated group and a non-isolated group. (3) Results: CMA revealed clinically relevant copy number variations (CNVs) in 9/139 (6.47%) PA fetuses, i.e., pathogenic copy number variations (pCNVs) in 8/139 (5.76%) fetuses and likely pathogenic CNVs in 1/139 (0.72%) fetuses. Stratified analysis showed that the incidence of clinically significant variants was higher in non-isolated PA fetuses than in isolated PA fetuses (12.50%, 6/48 vs. 3.30%, 3/91, p = 0.036). Regression analysis showed that a combination of other structural abnormalities at diagnosis of PA represented the principal risk factor for chromosomal imbalances (OR = 2.672). A combination of other structural abnormalities and a high maternal age increased the risk of adverse pregnancy outcomes in PA cases, including intrauterine fetal death (IUFD), termination of pregnancy (TOP), and preterm delivery. (4) Conclusions: The value of CMA for locating imbalanced genetic variations in fetuses with PA was highlighted by this study, particularly when combined with additional structural abnormalities.

Effects of Isolation on Mental Health Status of Adolescents during The COVID-19 Pandemic

Objective: To investigate the long-term effects of COVID-19 isolation on adolescent mental health. Methods: In this study, 12490 adolescents in Jingzhou city were investigated by general demographic survey, the 12-item general health questionnaire (GHQ-12), the 9-item of Patient health questionnaire depression module (PHQ-9), the 7-item of generalized anxiety disorder (GAD-7), and post-traumatic The posttraumatic stress disorder checklist-5(PCL-5) during the normal epidemic prevention and control period. Results: The study found that 44.5% of adolescents in the isolated group had at least one of these mental health disorders, which is higher than that in the non-isloated group, while it is only 36.9%in the non-isolated group. The proportion of psychological damage in the isolated group was higher than that in the non-isolated group, such as 23.5% in the GHQ-12 isolated group and 18.6% in the non-isolated group (P &lt; 0.001). Among the mental health effects of isolation on adolescents, concentrated isolation had significant effects on adolescent depression (P &lt; 0.001). After controlling for confounding factors such as general population conditions, Isolation was found to be an independent risk factor for long-term GHQ-12 (OR= 1.255,CI=1.043-1.311), PHQ-9(OR=1.218,CI=1.036-1.432) and GAD-7(OR=1.350,CI=1.195-1.712) trauma in adolescents (P &lt; 0 .05). Discussion: Studies have found that adolescents undergoing quarantine can cause long-term psychological trauma to general mental health, anxiety and depression, while adolescents without isolation have relatively little impact on their mental health. Therefore, In addition to mental health counseling and social support given to adolescents, more attention should be paid to the impact of isolation on adolescents’ mental health during the pandemic.

Application of chromosomal microarray analysis for fetuses with choroid plexus cysts

To assess the value of chromosomal microarray analysis (CMA) for fetuses with choroid plexus cysts (CPC) detected by prenatal ultrasonography. Amniotic fluid chromosomal karyotype was analyzed in 104 fetuses with CPC, and copy number variations (CNVs) among the fetuses were detected by using CMA. Ten fetuses (9.62%) were found to have an abnormal karyotype, and 14 additional CNVs were detected in those with a normal karyotype. The fetuses were divided into isolated CPC group (n = 87) and non-isolated CPC group (n = 17) based on the presence of additional ultrasonographic abnormalities. The detection rates for karyotypic abnormalities of the two groups were 4.6% and 35.3%, respectively, whilst those for the CMA were 4.6% and 47.1%, respectively. The detection rates for karyotypic abnormalities and CMA of the non-isolated CPC group were significantly higher than those of the isolated CPC group (P < 0.05). The detection rate for CMA in the non-isolated group was significantly higher than chromosomal karyotype abnormalities (P < 0.05). Among the 8 fetuses with abnormal CMA, 4 had single umbilical artery, 3 had abnormal cardiac structure, and 2 had enhanced intestinal echo. CPC is closely associated with chromosomal abnormalities. Chromosome karyotype analysis in combination with CMA can effectively detect fetal chromosomal abnormalities and provide a basis for genetic counseling.

Isolation of Patients With Bacterial Pneumonia Suspected of COVID-19 Leads to Prolonged Hospitalization.

Objective The coronavirus disease 2019 (COVID-19) pandemic has changed the inpatient treatment practice for bacterial pneumonia. Upon hospitalization, isolation is required while waiting for the polymerase chain reaction (PCR) test result, which may lead to limited access to medical resources and fewer room visits by medical staff. However, little is known about the relationship between isolation and the clinical outcomes of bacterial pneumonia. We hypothesized that isolation of suspected COVID-19 patientswho are eventually diagnosed with bacterial pneumoniais associated with a prolonged length of hospitalization ascompared with non-isolation. Patients This is a single-center, retrospective observational study of hospitalized adult patients diagnosed with bacterial pneumoniafrom January 2018 to September 2021. The patients were divided into a non-isolated (patients hospitalized between January 2018 and December 2019, who were not isolated at all) and an isolated group (patients hospitalized between January 2020 and September 2021, who were initially isolated because COVID-19 was suspected). The primary outcome was a prolonged length of hospitalization (≥14 days), and its relationship with isolation was analyzed using logistic regression analysis adjusted for age, sex, CURB-65, and the Charlson Comorbidity Index. Results Among 917 eligible patients, 214 (23%) underwent isolation. In the logistic regression analysis, the isolated group independently had a prolonged length of hospitalization as compared with the non-isolated group (odds ratio 1.49; 95% confidence interval 1.08-2.07, p=0.015). There was no significant difference in antibiotic use duration between the groups. Conclusion The isolation of bacterial pneumonia patients suspected of COVID-19 was associated with prolonged length of hospitalization.

COVID-19 burnout, resilience, and psychological distress among Chinese college students.

Since the outbreak of coronavirus disease 2019 (COVID-19), Chinese college students have spent 3 years dealing with infection prevention. Some students have undergone quarantine due to the detection of new variants of COVID-19 and the rise in cases. This study examines pandemic-related isolation and its psychological impact on Chinese college students and explores the relationships among COVID-19 burnout, resilience, and psychological distress in Chinese college students during the pandemic. The COVID-19 Burnout Scale, the Connor-Davidson Resilience Scale, and the Brief Symptom Inventory were used to investigate 388 college students from Nanjing City, China. All participants were enrolled in university after 2019, and they participated in the survey voluntarily via the Internet. Participants were divided into two groups (isolated group vs. non-isolated group) based on whether or not they had been isolated. (1) Significantly lower scores were found for all factors in the isolated group; (2) COVID-19 burnout significantly negatively predicted resilience and significantly positively predicted psychological distress (anxiety, depression, and somatization symptoms), while resilience significantly negatively predicted psychological distress; and (3) Resilience mediated the relationship between COVID-19 burnout and psychological distress. Isolation is a risk factor for psychological distress related to COVID-19. Resilience can buffer psychological distress and help improve Chinese college students' wellbeing during the COVID-19 pandemic.

Prenatal Diagnosis and Outcomes in Fetuses with Hemivertebra.

Background: There are few studies on the burden of chromosomal abnormalities and single gene disorders in fetal hemivertebra (HV). We aim to investigate the cytogenetic and monogenic risk and evaluate prenatal outcomes of fetal HV. Method: This study included fetuses diagnosed with HV divided into two groups: isolated HV and non-isolated HV. Data on other sonographic structural anomalies, chromosomal and sub-chromosomal abnormalities, monogenic variations detected by WES, and prenatal outcomes are recorded and reviewed. Results: Among 109 fetal HV cases, forty-seven (43.1%) non-isolated HV cases were associated with structural anomalies. Chromosomal test results were available in 58 cases, identifying six (10.3%) chromosomal aberrations involved in four isolated and two non-isolated HV. WES identified four (likely) pathogenic variants in three cases among 16 fetuses with HV, involving three novel variants, 1250G > T and c.1277G> inherited from parents, respectively, in DLL3 and c.7213C > A ** in the FLNB. The live birth rate (LB) was higher in the isolated fetal HV group than in the non-isolated group (67.7% (42/62) vs. 12.5% (12/47), p < 0.001). Conclusion: This study emphasizes the risk of cytogenetic abnormalities in isolated HV. WES yields a diagnostic rate of 18.3% in HV with normal CMA, probably aiding the prenatal counseling and management of fetal HV.

Chromosomal Abnormalities and Pregnancy Outcomes for Fetuses With Gastrointestinal Tract Obstructions

Fetal gastrointestinal tract obstruction (GITO) is the most frequently encountered gastrointestinal defect in the prenatal period. This study aimed to investigate the genetic disorders and pregnancy outcomes of fetal GITO. We reviewed data from 70 pregnancies that were referred for invasive prenatal testing because of fetal GITO. According to the level of obstruction, they were classified into esophageal atresia/stenosis, duodenal atresia/stenosis, jejunal or ileal atresia/stenosis, or anal atresia. Traditional karyotyping was performed on all the 70 pregnancies, and chromosomal microarray analysis (CMA) was performed on 32 of them in parallel. Traditional karyotyping revealed twelve (17.1%) chromosomal abnormalities, including 11 cases of trisomy 21 (Down syndrome), and one case of a supernumerary marker chromosome related to Cat eye syndrome. According to the absence or presence of other ultrasound anomalies, they were categorized into isolated GITO (n = 36) and non-isolated GITO (n = 34). The rate of chromosomal abnormalities in the non-isolated GITO pregnancies was significantly higher than that in the isolated GITO pregnancies (29.4 vs. 5.5%, p < 0.05); the survival rate in the isolated group was significantly higher than that in the non-isolated group (67.6 vs. 34.4%, p < 0.05). Among the 32 cases where CMA was performed, an additional one (3.1%) copy number variant with clinical significance was noted in a fetus with normal karyotype. The microduplication on 7q12 was considered to be the genetic etiology of duodenal stenosis, although it was inherited from a phenotypically normal mother. Our study supports the strong association between Down syndrome and fetal GITO, especially duodenal stenosis. Our findings suggested that the risk of chromosomal abnormalities was increased when GITO was accompanied by other ultrasound anomalies; thus, chromosomal abnormalities and fetal anatomy should be carefully evaluated for pregnancy management of fetal GITO.

Non-visualisation of fetal gallbladder in a Chinese cohort.

Non-visualisation of fetal gallbladder (NVFGB) is associated with chromosomal abnormalities, biliary atresia, cystic fibrosis, and gallbladder agenesis in Caucasian fetuses. We investigated the outcomes of fetuses with NVFGB in a Chinese cohort. This retrospective analysis included cases of NVFGB among Chinese pregnant women at five public fetal medicine clinics in Hong Kong from 2012 to 2019. We compared the incidences of subsequent gallbladder visualisation, chromosomal abnormalities, biliary atresia, cystic fibrosis, and gallbladder agenesis between cases of isolated NVFGB and cases of non-isolated NVFGB. Among 19 cases of NVFGB detected at a median gestational age of 21.3 weeks (interquartile range, 20.0-22.3 weeks), 10 (52.6%) were isolated and nine (47.4%) were non-isolated. Eleven (58.0%) cases had transient non-visualisation, four (21.0%) had gallbladder agenesis, three (15.8%) had chromosomal abnormalities (trisomy 18, trisomy 21, and 22q11.2 microduplication), one (5.2%) had biliary atresia, and none had cystic fibrosis. The incidence of serious conditions was significantly higher in the non-isolated group than in the isolated group (44.4% vs 0%; P=0.029); all three cases with chromosomal abnormalities and the only case of biliary atresia were in the non-isolated group, while all four cases with gallbladder agenesis were in the isolated group. The incidences of transient non-visualisation were similar (55.6% vs 60.0%; P=1.000). Isolated NVFGB is often transient or related to gallbladder agenesis. While investigations for chromosomal abnormalities and biliary atresia are reasonable in cases of NVFGB, testing for cystic fibrosis may be unnecessary in Chinese fetuses unless the NVFGB is associated with consistent ultrasound features, significant family history, or consanguinity.

Evaluation of genetic variants using chromosomal microarray analysis for fetuses with polyhydramnios

BackgroundPolyhydramnios, the excessive accumulation of amniotic fluid, is associated with an elevated risk of abnormal karyotype, particularly aneuploidy. Studies focusing on chromosomal microarray analysis (CMA) in pregnancies with polyhydramnios are limited. The aim of this study is to evaluate the implications of pregnancy with polyhydramnios by CMA testing and routine karyotyping.MethodsData from 131 singleton and 17 twin pregnancies that underwent prenatal CMA testing due to polyhydramnios between May 2017 and May 2021 were reviewed. Enrolled cases were grouped into isolated polyhydramnios (N = 39) and non-isolated polyhydramnios (N = 111). Non-isolated group was further categorized as subgroup of soft markers (n = 59) and non-soft markers (n = 52).ResultsCMA revealed an additional 10 (6.7%) chromosomal aberrations with clinical significance in 9 fetuses from singleton pregnancies and 1 from a twin pregnancy. Six microdeletion/microduplication syndromes were observed, of which 4 were located on chromosome 17. The incremental yields of clinically significant CMA findings in non-isolated polyhydramnios was 8.1%, and the values in fetuses along with soft markers and non-soft markers were 5.1% and 11.5% (p > 0.05), respectively. Only one incidental finding related to neuropathy with liability to pressure palsies was detected from 39 fetuses with isolated polyhydramnios.ConclusionsNon-isolated polyhydramnios is associated with several microdeletion/microduplication syndromes, regardless of singleton or twin pregnancies. Our results suggest insufficient evidence to recommend CMA in pregnancies with isolated polyhydramnios.

The Impact of Quarantine on Sleep Quality and Psychological Distress During the COVID-19 Pandemic.

PurposeWe investigated the impact of isolation on sleep quality and psychological distress during the COVID-19 pandemic in Saudi Arabia.MethodsAn online survey was conducted on 353 (88 isolated and 265 not isolated) individuals from May to June 2020. Subjective sleep quality was determined using the Pittsburgh sleep quality index (PSQI), and psychological distress measured using the Kessler psychological distress scale (K10).ResultsThe mean age of the isolated group was 28.6 years versus 27.5 years for the non-isolated group, with male participants accounting for 37% in both groups. The mean PSQI score was 8.5±3.6 and 8.4±3.5 for the isolated and non-isolated groups, respectively (P= 0.92). The mean K-10 score was 27.6± 9.4 and 25.3± 9.5 for the isolated and non-isolated groups, respectively (P= 0.04). Poor sleep (PSQI ≥6) was reported in 235 (66.6%) and psychological distress (K-10 ≥20) in 244 (69.1%) participants. Isolation was not associated with poor sleep (OR: 0.73 (95% CI: 0.41–1.3), P=0.29), but was statistically significant with psychological distress (OR: 2.12 (95% CI: 1.10–4.08), P=0.03).ConclusionPoor sleep and psychological distress symptoms were highly prevalent in our study population. Isolation may influence psychological distress but not sleep quality during the COVID-19 pandemic.

Clinical implications of fungal isolation from sputum in adult patients with cystic fibrosis

Cystic fibrosis is an autosomal recessive disease with a defect in mucociliary activity that is characterized by recurrent pulmonary infections. Bacterial agents frequently implicated in airway colonization are Haemophilus influenzae, Staphylococcus spp., and Pseudomonas spp. Fungal isolation from sputum is common in adults. However, growth of fungal agent only in sputum culture in patients with cystic fibrosis is insufficient for the diagnosis of fungal diseases. There is limited data about the clinical significance of fungal isolation in sputum cultures. The aim of the study was to investigate the clinical outcomes andsignificance of fungal isolation from sputum samples in adult CF. This retrospective study included patients who have been admitted between October 2017 and January 2019 in an adult cystic fibrosis unit. Patients were grouped according to fungal pathogenicity as; fungal disease group, colonization group, and nonisolated group. The data of the last one year, including demographics, clinical data, laboratory, treatment modalities, results of cultured bacteria and fungus from sputum samples, respiratory function parameters, frequency of exacerbation, and hospitalizationwere compared between groups. A total of 330 sputum samples from 88 adult patients with CF were collected. Patients were divided into 3 groups, the fungal disease group (n = 10, 11.4%), colonization group (n = 49, 55.7%), and nonisolated group (n = 29, 32.9%). Presence of pulmonary exacerbation, number of admissions to emergency department, and the number of positive cultures for bacteria from sputum were higher in the fungal disease group (p = 0.03, p = 0.01 and p < 0.001). The fungal disease group had higher rate of antibiotics by parenteral routethan other groups (p = 0.001) whereas lung functions were similar. Use of nutritional supplementation and parenteral antibiotherapy were the factors associated with elevated risk of fungal isolation. Frequent use of parenteral antibiotics and use of nutritional supplementation were found to be independent risk factors for fungal isolation from sputum in adult CF.

Individual, family, and community factors related to loneliness in mothers raising children less than 3\xa0years of age: a cross-sectional study

BackgroundLoneliness in mothers raising children under 3 years of age is a major challenge. The purpose of this study was to identify the individual, family, and community factors associated with loneliness among mothers raising children under 3 years of age with social isolation as a mediator.MethodsA cross-sectional survey was conducted using anonymous self-administered questionnaires. The target population was all 649 mothers of children under 3 years of age visiting a public health center in Yokohama City and eligible for child health examinations between November 2019 and February 2020. The study measures included loneliness (10-item version of the UCLA Loneliness Scale), social isolation (Lubben Social Network Scale [LSNS-6]), demographic data, individual factors, family factors, and community factors from an ecological systems model. Social isolation was classified based on the LSNS-6 cutoff points. Multiple regression analysis was conducted to examine the association between loneliness and individual, family, and community factors with social isolation as a mediator.ResultsA total of 531 participants (81.8% response rate) responded, and 492 (75.8% valid response rate) were included in the analysis. Loneliness was significantly higher in the isolated group (n = 171, 34.8%) than in the non-isolated group (n = 321, 65.2%) (mean = 22.3, SD = 5.6 and mean = 17.6, SD = 4.6, respectively). Factors associated with high loneliness included individual and family factors (a high number of parenting and life concerns [β = 0.211, p < 0.01], not eating breakfast every day [β = 0.087, p < 0.05], and fewer partners’ supportive behaviors for household duties and childcare [β = − 0.240, p < 0.001]) and community factors (fewer people to consult about parenting [β = − 0.104, p < 0.01] and low community commitment [β = − 0.122, p < 0.05]) with social isolation as a mediator.ConclusionReferral to a counseling organization to alleviate worries about parenting and the creation of a child-rearing environment to enhance the recognition of the community may be considered. These findings could help develop intervention programs for the prevention or alleviation of loneliness experienced by mothers and prevent the associated health risks among mothers and child outcomes.