Category: Nevin Manimala

Zhong Nan Da Xue Xue Bao Yi Xue Ban. 2023 Apr 28;48(4):565-574. doi: 10.11817/j.issn.1672-7347.2023.220390.

ABSTRACT

OBJECTIVES: Hereditary spherocytosis (HS) is the most common hereditary defect of the red cell membrane, mainly characterized by anemia, jaundice, and splenomegaly. Due to the atypical clinical manifestations and negative family history of some patients, as well as the low sensitivity and specificity of traditional laboratory examinations, it is easy for it to escape diagnosis or be misdiagnosed. At present, it has been confirmed that the mutation of ANK1, SPTB, SPTA1, SLC4A1 and EPB42 genes can cause the deletion of their corresponding coding proteins, and thus lead to the defect of erythrocyte membrane. This study aims to analyze the feasibility and clinical application value of HS gene diagnosis.

METHODS: Data of 26 patients from Hunan, China with HS admitted to the Department of Hematology, Second Xiangya Hospital of Central South University from January 2018 to September 2021 were retrospectively collected, and their clinical manifestations and results of laboratory examinations were analyzed. Next-generation sequencing (NGS) combined with Sanger sequencing were applied. The mutation of HS pathogenic gene and the variation of uridine diphosphate-glucuronosyl transferase 1 family polypeptide A1 (UGT1A1), a key enzyme in the regulation of bilirubin metabolism, were detected. The results of pathogenic gene variations were interpreted pathogenic gene variations in accordance with the Standards and guidelines for the interpretation of sequence variants published by the American College of Medical Genetics and Genomics (ACMG). The clinical characteristics of patients with different gene variants were analyzed, and the clinical diagnosis and genetic diagnosis were compared.

RESULTS: Among the 26 patients with HS, there were 23 cases of anemia, 25 cases of jaundice, 24 cases of splenomegaly, and 14 cases of cholelithiasis. There were 16 cases with family history and 10 cases without family history. The results of HS mutation test were positive in 25 cases and negative in 1 case. A total of 18 heterozygous mutations of HS pathogenic genes were detected in 19 families, among which 14 were pathogenic, 1 was likely pathogenic and 3 were of unknown significance. SPTB mutations (12) and ANK1 mutations (4) were the most common. The main variation types were nonsense mutation (9). There were no significant differences in peripheral blood cell parameters and hemolysis indicators between the SPTB mutant group and the ANK1 mutant group (all P>0.05). The rate of splenectomy in ANK1 mutation group was higher than that in SPTB mutation group, and the difference was statistically significant (χ²=6.970, P=0.014). There were no significant differences in peripheral blood cell parameters and hemolysis indicators among different mutation types (nonsense mutation, frameshift mutation, splice site mutation and missense mutation) (all P>0.05). Among the 18 clinically confirmedpatients, there were 17 cases whose diagnosis is consistent with the genetic diagnosis. Eight patients were clinically suspected, and all of them were confirmed by detection of HS gene mutation. Twenty-four patients with HS underwent UGT1A1 mutation detection, among which 5 patients carried UGT1A1 mutation resulting in a decrease in enzyme activity, and 19 patients had normal enzyme activity. The level of total bilirubin (TBIL) in the group with reduced enzyme activity was higher than that in the group with normal enzyme activity, and the difference was statistically significant (U=22, P=0.038).

CONCLUSIONS: Most patients with HS have anemia, jaundice and splenomegaly, often accompanied by cholelithiasis. SPTB and ANK1 mutations are the most common mutations in HS pathogenic genes among patients in Hunan, China, and there was no significant correlation between genotype and clinical phenotype. Genetic diagnosis is highly consistent with clinical diagnosis. The decrease of UGT1A1 enzyme activity can lead to the aggravation of jaundice in HS patients. Clinical combined gene diagnosis is beneficial for the rapid and precision diagnosis of HS. The detection of UGT1A1 enzyme activity related gene variation plays an important role in evaluation of HS jaundice.

PMID:37385619 | DOI:10.11817/j.issn.1672-7347.2023.220390

Zhong Nan Da Xue Xue Bao Yi Xue Ban. 2023 Apr 28;48(4):557-564. doi: 10.11817/j.issn.1672-7347.2023.220338.

ABSTRACT

OBJECTIVES: Pregnancy stress is the psychological confusion or threat caused by various stress events and adverse factors during pregnancy. Pregnant women exposed to many stressors, they will be easy to produce bad mood and prenatal depression if they cannot adapt to their own changes. Prenatal depression is one of the major global public health problems, with a higher incidence in developing countries and a negative impact on the health of pregnant women and fetus. Resilience refers to pregnant women using their own positive psychological capital, can self-emotional adjustment and improve their ability to adapt to the response state. A better level of resilience can enable pregnant women to face various negative and adaptive problems positively. This study aims to investigate the relationship between pregnancy stress, resilience and prenatal depression through a mental health survey of pregnant women.

METHODS: A total of 750 pregnant women in a Grade A tertiary hospital in Urumqi were investigated by self-designed demographic questionnaire, Pregnancy Pressure Scale (PPS) and Patient Health Questionnaire-9 (PHQ-9), Connor-Davidson Resilience Scale (CD-RISC), and the levels of stress during pregnancy, prenatal depression and resilience were analyzed. Pearson correlation analysis was used to explore the correlation between the three. Bootstrap mediation effect test was used to test the mediation effect relationship among the three. If the mediation effect was confirmed, AMOS software was used to establish the mediation effect structural equation model to analyze the mediation effect among the three.

RESULTS: Among 750 respondents, 709 (94.53%) had mild or above pregnancy pressure, 459 (61.20%) had mild or above depressive symptoms and 241 (32.13%) had a good or above level of resilience. Pearson correlation analysis showed that prenatal depression was significantly positively correlated with pregnancy stress (P<0.01), prenatal depression and pregnancy stress were significantly negatively correlated with resilience (all P<0.01). Mediation effect test analysis showed that all the pathways were statistically significant (P<0.01). Mediation effect of resilience between pregnancy stress and prenatal depression was significantly found (95% CI 0.022-0.068, P<0.001). Pregnancy pressure negatively affected resilience (β=-0.38, P<0.01), and resilience negatively affected prenatal depression (β=-0.10, P<0.01). The mediation effect of resilience was 6.5%.

CONCLUSIONS: Pregnant women’s pregnancy pressure, resilience and prenatal depression are significantly correlated, and the mediation variable resilience plays a partial mediating role in the impact of pregnancy pressure on prenatal depression. Pregnant women can reduce the incidence of prenatal depression and promote their physical and mental health by exercising their resilience.

PMID:37385618 | DOI:10.11817/j.issn.1672-7347.2023.220338

Zhong Nan Da Xue Xue Bao Yi Xue Ban. 2023 Apr 28;48(4):550-556. doi: 10.11817/j.issn.1672-7347.2023.220336.

ABSTRACT

OBJECTIVES: Herlyn-Werner-Wunderlich syndrome (HWWS) is a rare female genital tract malformation, and there are few large sample studies reported at home and abroad. The clinical manifestations of this syndrome are diverse, and insufficient understanding may delay the diagnosis and treatment of the patients. This study aims to analyze the clinical characteristics of different types of HWWS patients, and to improve the diagnosis and treatment of HWWS.

METHODS: The clinical data of patients with HWWS who were hospitalized in the Department of Obstetrics and Gynecology, Third Xiangya Hospital of Central South University from October 1, 2009 to April 5, 2022 were retrospectively analyzed. The age, medical history, physical examination, imaging examination and treatment of the patients were collected for statistical analysis. The patients were divided into an imperforate oblique vaginal septum type, a perforate oblique vaginal septum type, and an imperforate oblique vaginal septum and cervical fistula type. The clinical characteristics of different types of HWWS patients were compared.

RESULTS: A total of 102 HWWS patients were enrolled, with age of 10-46 years old, including 37 (36.27%) patients with type I, 50 (49.02%) type II, and 15 (14.71%) type III. All patients were diagnosed after menarche, with an average age of (20.5±7.4) years. There were significant differences in the age of diagnosis and course of disease among the 3 types of HWWS patients (both P<0.05). Patients with type I had the youngest age of diagnosis [(18.0±6.0) years] and the shortest course of disease (median course of 6 months), while patients with type III had the oldest age of diagnosis [(22.9±9.8) years] and the longest course of disease (median course of 48 months). The main clinical manifestation of type I was dysmenorrhea, and the main clinical manifestation of type II and type III was abnormal vaginal bleeding. Of the 102 patients, 67 (65.69%) patients had double uterus, 33 (32.35%) had septate uterus, and 2 (1.96%) had bicornuate uterus. The vast majority of patients had renal agenesis on the oblique septum, and only 1 patient had renal dysplasia on the oblique septum. The oblique septum located on the left side in 45 (44.12%) patients and on the right side in 57 (55.88%) patients. There were no significant differences in uterine morphology, urinary system malformation, pelvic mass, and oblique septum among the 3 types of HWWS patients (all P>0.05). Six (5.88%) patients had ovarian chocolate cyst, 4 (3.92%) patients had pelvic abscess, and 5 (4.90%) patients had hydrosalpinx. All patients underwent vaginal oblique septum resection. Among them, 42 patients underwent hysteroscopic incision of the oblique vaginal septum without destroying the intact hymen because they had no sexual life history, and the remaining 60 patients underwent traditional oblique vaginal septum resection. Among the 102 patients, 89 patients were followed up for 1 month to 12 years. The symptoms of vaginal oblique septum in 89 patients such as dysmenorrhea, abnormal vaginal bleeding and vaginal discharge were improved after operation. Among the 42 patients who underwent hysteroscopic incision of the oblique vaginal septum without destroying the intact hymen, 25 patients underwent hysteroscopies again 3 months after operation, and there was no obvious scar formation at the oblique septum incision site.

CONCLUSIONS: Different types of HWWS have different clinical manifestations, but all can be manifested as dysmenorrhea. The patient’s uterine morphology can be manifested as double uterus, septate uterus, or bicornuate uterus. The possibility of HWWS should be considered if uterine malformation is combined with renal agenesis. Vaginal oblique septum resection is an effective treatment.

PMID:37385617 | DOI:10.11817/j.issn.1672-7347.2023.220336

Zhong Nan Da Xue Xue Bao Yi Xue Ban. 2023 Apr 28;48(4):516-525. doi: 10.11817/j.issn.1672-7347.2023.220295.

ABSTRACT

OBJECTIVES: Insulin signaling pathway plays an important role in metabolic associated fatty liver disease (MAFLD), however, the association between polymorphisms of genes related to insulin signaling pathway and MAFLD remains unclear. This study aims to investigate the association between insulin signaling pathway-related gene polymorphisms and gene-gene interactions with MAFLD susceptibility in obese children so as to provide scientific basis for further study of genetic mechanism.

METHODS: A total of 502 obese children with MAFLD who admitted to Hunan Provincial Children’s Hospital from September 2019 to October 2021, were recruited as a case group, and 421 obese children with non-MAFLD admitted during the same period were recruited as a control group. Socio-demographic information, preterm birth history, eating habits, and exercise status of the subjects were collected by inquiry survey, and anthropometric information was collected by physical measurement. At the same time, 2 mL of venous blood was collected to extract DNA, and the polymorphism of insulin signaling pathway-related genes (5 representative candidate genes, 12 variants) was detected. Multivariate Logistic regression analysis was used to investigate the association between insulin signaling pathway-related gene polymorphisms and MAFLD in obese children.

RESULTS: After adjusting for confounder factors, INS rs3842748 was significantly associated with the risk of MAFLD in obese children in allele, heterozygous, and dominant models [OR and 95% CI 1.749 (1.053 to 2.905), 1.909 (1.115 to 3.267), 1.862 (1.098 to 3.157), all P<0.05]; INS rs3842752 was significantly associated with the risk of MAFLD in obese children in heterozygous and dominant models [OR and 95% CI 1.736 (1.028 to 2.932), 1.700 (1.015 to 2.846), all P<0.05]. NR1H3 rs3758674 was significantly correlated with the risk of MAFLD in obese children in allele model [OR and 95% CI 0.716 (0.514 to 0.997), P<0.05]. SREBP-1c rs2297508 was significantly associated with the risk of MAFLD in obese children in allele and dominant models [OR and 95% CI 0.772 (0.602 to 0.991) and 0.743 (0.557 to 0.991), all P<0.05]. SREBP-1c rs8066560 was significantly associated with the risk of MAFLD in obese children in allele, heterozygous, and dominant models [OR and 95% CI 0.759 (0.589 to 0.980), 0.733 (0.541 to 0.992), 0.727 (0.543 to 0.974), all P<0.05]. NR1H3 rs3758674 mutant C and SREBP-1c rs2297508 mutant G had interaction in the development of MAFLD in obese children [OR and 95% CI 0.407 (0.173 to 0.954), P<0.05].

CONCLUSIONS: The INS, NR1H3, and SREBP-1c gene polymorphisms in the insulin signaling pathway are associated with the susceptibility of MAFLD in obese children, but the functions and mechanisms of these genes need to be further studied.

PMID:37385614 | DOI:10.11817/j.issn.1672-7347.2023.220295

Am J Vet Res. 2023 Jul 3:1-11. doi: 10.2460/ajvr.23.05.0101. Online ahead of print.

ABSTRACT

OBJECTIVE: To compare cardiac output (CO) measurements by transesophageal echocardiography (TEECO) and esophageal Doppler monitor (EDMCO) with pulmonary artery thermodilution (PATDCO) in anesthetized dogs subjected to pharmacological interventions. The effect of treatments on EDM-derived indexes was also investigated.

ANIMALS: 6 healthy male dogs (10.8 ± 0.7 kg).

METHODS: Dogs were anesthetized with propofol and isoflurane, mechanically ventilated, and monitored with invasive mean arterial pressure (MAP), end-tidal isoflurane concentration (ETISO), PATDCO, TEECO, EDMCO, and EDM-derived indexes. Four treatments were administered to all dogs by randomization. Baseline data were collected before each treatment: (1) dobutamine infusion; (2) esmolol infusion; (3) phenylephrine infusion; and (4) ETISO > 3%. Data were collected after 10-minute stabilization and after 30 minutes of washout between treatments. Statistical tests were pairwise t test, Bland-Altman analysis, Lin’s concordance correlation (ρc), and polar plot analysis with P < .05 set as significance.

RESULTS: The mean ± SD relative bias (limits of agreement) for TEECO was 0.35 ± 25.2% (-49.1% to 49.8%) and for EDMCO was -27.2 ± 22.5% (-71.4% to 17%) versus PATDCO. The percent error for TEECO and EDMCO was 27.6% and 44.1%, respectively. The ρc value was 0.82 for TEECO and 0.66 for EDMCO. TEECO and EDMCO showed good trending ability. EDM-derived indexes displayed significant changes specific to the drug administered (P < .001).

CLINICAL RELEVANCE: For minimally invasive CO monitoring, TEE may provide more favorable performance than EDM in clinical settings; however, EDM-derived indexes yield valuable hemodynamic information that reliably follows trends in CO, thus supporting critical decision-making in canine patients.

PMID:37385599 | DOI:10.2460/ajvr.23.05.0101

Am J Hosp Palliat Care. 2023 Jun 29:10499091231187341. doi: 10.1177/10499091231187341. Online ahead of print.

ABSTRACT

Background: The female Veteran population is rapidly growing, as is their use of Veterans Affairs (VA) medical centers (VAMCs). Additionally, 90% of female Veterans are under 65 years old, meaning healthcare providers at VAMCs must be ready to manage the complex serious illnesses that affect female Veterans as they age. These serious illnesses require proper medical management, which can include palliative care. However, little palliative care research includes female Veterans. Aims: The aims of this cross-sectional study were to examine palliative care knowledge and symptom burden among female Veterans’ and examine factors associated a symptom burden scale. Methods: Consenting participants completed online questionnaires, including the Palliative Care Knowledge Scale (PaCKS), Condensed Memorial Symptom Assessment Scale (CMSAS), and demographics. Descriptive statistics characterized the sample, bivariate association were carried out with a Chi-square and t test. A generalized linear model explored associations between CMSAS and its subscales with sociodemographic, number of serious illnesses, and facility type (VAMC vs civilian facility). Results: 152 female Veterans completed the survey. PaCKS scores were consistent across our sample. Physical symptoms were rated higher for those receiving care at VAMCs compared to civilian facilities (P = .02) in the bivariate analysis. The factors associated with CMSAS were age, employment status and number of serious illnesses (all P < .05). Conclusions: Palliative care can assist female Veterans with serious illness. More research is needed to further explore variables associated with symptom burden among female Veterans such as age, employment status, and number of serious illnesses.

PMID:37385594 | DOI:10.1177/10499091231187341

J Am Acad Child Adolesc Psychiatry. 2023 Jun 23:S0890-8567(23)00341-6. doi: 10.1016/j.jaac.2023.06.014. Online ahead of print.

ABSTRACT

OBJECTIVE: Cannabis use is associated with suicide-related outcomes in both adolescents and adults and may be increasing amidst shifting cannabis policies. However, little is known about the impact of medical marijuana legalization (MML) and recreational marijuana legalization (RML) policies on youth suicide. Using 20 years of national data, we examined associations between MML, RML, and suicide-related mortality among US individuals aged 12 to 25; and assessed whether they varied based on age and sex.

METHOD: Suicide deaths (N=113,512) from the 2000-2019 National Vital Statistics System Multiple Cause of Death files for age groups 12-13, 14-16, 17-19, 20-22, and 23-25 years were examined in relation to time-varying cannabis law status using a staggered adoption difference-in-difference (DiD) approach with a negative binomial regression to determine associations between MML, RML, and suicide rates, controlling for individual- and state-level covariates and accounting for the varying effective dates of MML and RML by state.

RESULTS: The overall unadjusted annual suicide rate was 10.93/100,000, varying from 9.76 (no ML states) to 12.78 (MML states) to 16.68 (RML states). In multivariable analysis, both MML (incidence rate ratio (IRR) = 1.10, 95% CI 1.05-1.15) and RML (IRR=1.16, 95% CI 1.06-1.27) were associated with higher suicide rates among female youth compared to states without ML. Youth aged 14-16 had higher rates of suicide in states with RML compared to states with MML (IRR=1.14, 95% CI 1.00-1.30) and states without ML (IRR=1.09, 95% CI 1.00-1.20). Findings were consistent across sensitivity analyses.

CONCLUSION: MML and RML were associated with increased suicide-related mortality in female youth and 14-to-16-year-olds of both sexes. Mechanisms through which cannabis policies are related to increased youth suicide warrant further study and should inform legislative reform.

PMID:37385585 | DOI:10.1016/j.jaac.2023.06.014

Am J Prev Med. 2023 Jun 27:S0749-3797(23)00280-5. doi: 10.1016/j.amepre.2023.06.017. Online ahead of print.

ABSTRACT

INTRODUCTION: Structural racism has clear and pernicious effects on population health. However, there is limited understanding of how structural racism impacts young peoples’ well-being. The objective of this ecological cross-sectional study was to assess the relationship between structural racism and well-being for 2,009 United States counties from 2010-2019.

METHODS: Population-based data on demographics, health, and other variables related to young peoples’ ability to thrive are used to construct a previously validated composite index that serves as a proxy of young peoples’ well-being. The index is regressed on several forms of structural racism (segregation, economic, and educational) both independently and jointly, while accounting for county fixed effects, time trends, and state-specific trends, as well as weighting for child population. Data was analyzed from November 2021 through March 2023.

RESULTS: Higher levels of structural racism are associated with lower well-being. A one-standard-deviation increase in Black-White child poverty disparity is associated with a -0.034 [95% CI: -0.019 – -0.050] standard-deviation change in index score. When accounting for multiple structural racism measures, associations remain statistically significant. In joint models, only estimates for economic racism measures remain significant when additionally controlling for demographic, socioeconomic, and adult health measures [β=-0.015; 95% CI: -0.001 – -0.029]. These negative associations are heavily concentrated in counties where Black and Latinx children are overrepresented.

CONCLUSIONS: Structural racism-particularly of the kind that produces racialized poverty outcomes-has a meaningful adverse association with child and adolescent well-being, which may produce lifelong effects. Studies of structural racism among adults should consider a lifecourse perspective.

PMID:37385571 | DOI:10.1016/j.amepre.2023.06.017

J Thorac Cardiovasc Surg. 2023 Jun 27:S0022-5223(23)00536-6. doi: 10.1016/j.jtcvs.2023.06.010. Online ahead of print.

ABSTRACT

OBJECTIVE: To evaluate whether wedge resection (WR) was appropriate for the patients with peripheral T1N0 solitary subsolid invasive lung adenocarcinoma (LUAD).

METHODS: Patients with peripheral T1N0 solitary subsolid invasive LUAD who received sublobar resection were retrospectively reviewed. Clinicopathologic characteristics, 5-year recurrence-free survival (RFS) and 5-year lung cancer-specific overall survival (LCS-OS) were analyzed. Cox regression model was used to elucidate risk factors for recurrence.

RESULTS: 258 patients receiving WR and 1245 patients receiving segmentectomy (SEG) were included. The mean follow-up time was 36.87±16.21 months. 5-year RFS following WR was 96.89% for patients with ground-glass nodule (GGN) ≤2cm and 0.25< consolidation to tumor ratio (CTR) ≤0.5, not statistically different from 100% for those with GGN≤2cm and CTR≤0.25 (p=0.231). The 5-year RFS was 90.12% for patients with GGN between 2-3cm and CTR≤0.5, significantly lower than that of patients with GGN≤2cm and CTR≤0.25 (p=0.046). For patients with GGN≤2cm and 0.25<CTR≤0.5, 5-year RFS and LCS-OS were 97.87% and 100% following WR versus 97.73% and 92.86% following SEG (RFS: p=0.987; LCS-OS: p=0.199), respectively. For patients with GGN between 2-3cm and CTR≤0.5, 5-year RFS following WR was significantly lower than that following SEG (90.61% vs. 100%, p=0.043). Multi-variable Cox regression analysis showed that STAS, visceral pleural invasion and nerve invasion remained independent risk factors for recurrence of patients with GGN between 2-3cm and CTR≤0.5 following WR.

CONCLUSIONS: WR might be appropriate for patients with invasive LUAD appearing as peripheral GGN≤2cm and CTR≤0.5, but inappropriate for those with invasive LUAD appearing as peripheral GGN between 2-3cm and CTR≤0.5.

PMID:37385528 | DOI:10.1016/j.jtcvs.2023.06.010

Sci Total Environ. 2023 Jun 27:164908. doi: 10.1016/j.scitotenv.2023.164908. Online ahead of print.

ABSTRACT

Deltas are the locus of river-borne sediment accumulation, however, their role in sequestering plastic pollutants is still overlooked. By combining geomorphological, sedimentological, and geochemical analyses, which include time-lapse multibeam bathymetry, sediment provenance, and μFT-IR analyses, we investigate the fate of plastic particles after a river flood event providing an unprecedented documentation of the spatial distribution of sediment as well as of microplastics (MPs), including particles fibers, and phthalates (PAEs) abundances in the subaqueous delta. Overall sediments are characterized by an average of 139.7 ± 80 MPs/kg d.w., but display spatial heterogeneity of sediment and MPs accumulation: MPs are absent within the active sandy delta lobe, reflecting dilution by clastic sediment (ca. 1.3 Mm³) and sediment bypass. The highest MP concentration (625 MPs/kg d.w.) occurs in the distal reaches of the active lobe where flow energy dissipates. In addition to MPs, cellulosic fibers are relevant (of up to 3800 fibers/kg d.w.) in all the analyzed sediment samples, and dominate (94 %) with respect to synthetic polymers. Statistically significant differences in the relative concentration of fiber fragments ≤0.5 mm in size were highlighted between the active delta lobe and the migrating bedforms in the prodelta. Fibers were found to slightly follow a power law size distribution coherent with a one-dimensional fragmentation model and thus indicating the absence of a size dependent selection mechanism during burial. Multivariate statistical analysis suggests traveling distance and bottom-transport regime as the most relevant factors controlling particle distribution. Our findings suggest that subaqueous prodelta should be considered hot spots for the accumulation of MPs and associated pollutants, albeit the strong lateral heterogeneity in their abundances reflects changes in the relative influence of fluvial and marine processes.

PMID:37385497 | DOI:10.1016/j.scitotenv.2023.164908