OBJECTIVE: To explore the clinical features and genetic characteristics of three patients with Infantile liver failure syndrome type 2 (ILFS2). METHODS: Three children who were diagnosed with ILFS2 at the Children's Hospital Affiliated to Zhengzhou University from February 2023 to February 2024 were selected as the study subjects. Clinical data of the children were collected. Peripheral blood samples of the children and their parents were collected and subjected to whole exome sequencing (WES). Candidate variants of the NBAS gene were verified by Sanger sequencing. This study was approved by the Ethics Committee of the Children's Hospital Affiliated to Zhengzhou University (Ethics No. 2024-k-069). RESULTS: The three children had presented with fever-triggered recurrent acute liver failure. All of them were found to harbor compound heterozygous variants of the NBAS gene, including c.3596G>A and c.1181A>T in child 1, c.2617C>T and c.2T>C in child 2, and c.3596G>A and c.2817_2818insT in child 3. Among these, the c.1181A>T and c.2817_2818insT variants were unreported previously. Based on the guidelines from the American College of Medical Genetics and Genomics (ACMG), they were respectively classified as variants of uncertain significance (PM2_Supporting+PM3+PP3) and pathogenic (PVS1+PM2_Supporting+PM3). CONCLUSION Combined with the patient's clinical phenotype, the compound heterozygous variants of the NBAS gene probably underlay the pathogenesis of ILFS2 in the three children. For children with fever-related acute liver failure of unknown causes, the possibility of this disease should be suspected, and genetic testing may facilitate the diagnosis. Early diagnosis and timely intervention can significantly improve the prognosis. Discoveries of the c.1181A>T and c.2817_2818insT variants have enriched the mutational spectrum of the NBAS gene.
Humans ; Exome Sequencing ; Genetic Testing/methods* ; Liver Failure, Acute/etiology* ; Mutation ; Child ; Adult ; Neoplasm Proteins

ObjectTo explore the risk factors related to the intensity of post-stroke depression in patients with cerebral infarction during hospitalization in the rehabilitation department. MethodsThe hospital consultation records of cerebral infarction patients in Beijing Bo'ai Hospital from December, 2019 to February, 2023 were reviewed from the hospital information system, and those who were diagnosed as depression visited the department of psychology were selected. It was collected including general information of sexes, ages, education levels, matrimony; medical features of course, location, affected side, sensory disorders, aphasia, agrypnia, dysphagia, hand-shoulder syndrome, constipation; functioning of muscle strength and Brunnstrom stages; and scores of Mini-Mental State Examination (MMSE), National Institutes of Health Stroke Scale (NIHSS), Fugl-Meyer Assessment (FMA), Fugl-Meyer Assessment-Balance (FMA-B), modified Barthel Index (MBI) and Hamilton Depression Scale (HAMD). Patients with HAMD scores ≤ 20 were as the low group, and those > 20 were as the high group. ResultA total of 2 403 hospitalized stroke patients were included, out of which 269 patients with cerebral infarction were diagnosed as depression and visited the department of psychology; while 103 cases were in the low group and 166 cases were in the high group. The incidence of constipation was less, and the incidence of dysphagia and shoulder-hand syndrome was higher in the high group (χ² > 5.379, P < 0.05), with weaker strength of iliopsoas muscle and quadriceps muscle, earlier of Brunnstrom stage of lower extremities and hands, and worse scores of NIHSS, MMSE, FMA, FMA-B and MBI (|Z| > 2.020, t > 2.171, P < 0.05). Logistic regression showed that constipation (OR = 0.435), quadriceps muscle strength (OR = 0.782) and dysphagia (OR = 2.602) related to the intensity of post-stroke depression in convalescent patients (P < 0.05). ConclusionPost-stroke dysphagia and poor quadriceps muscle strength may exacerbate post-stroke depression; however, constipation may not.

Objective:To investigate any effect of different environments on the levels of adrenocorticotropic hormone (ACTH), cortisol and testosterone using SAMP8 senescence-accelerated mice.Methods:Thirty SAMP8 mice were randomly divided into an enriched environment (EE) group, an impoverished environment (IE) group and a standard environment (SE) group, each of 10. The serum levels of ACTH, cortisol and testosterone were measured in all of the mice after they had lived in their respective environments for 8 weeks.Results:The average ACTH concentrations of the IE, EE and SE groups were (60.54±16.22), (48.98±15.30) and (28.49±8.24)pg/ml respectively. The average cortisol concentrations were (5.37±0.81), (4.09±0.92) and (3.19±0.88)ng/ml. The average testosterone concentrations being (2.35±0.90), (7.07±1.57) and (3.16±1.10)ng/ml. The average ACTH and cortisol levels were significantly different between the SE and IE groups. The average ACTH and testosterone levels differed significantly between the SE and EE groups and between the EE and IE groups.Conclusions:An impoverished environment can increase the secretion of ACTH and cortisol and activate the hypothalamic-pituitary-adrenal axis, at least in SAMP8 mice. An enriched environment can promote the secretion of ACTH and testosterone, but not that of cortisol.

Echinococcus granulosus is an important zoonotic parasite globally causing cystic echinococcosis (CE) in humans and animals. In this study, prevalence of CE and variation of cox1 gene sequence were analyzed with isolates E. granulosus collected from different areas in northern Xinjiang, China. The survey showed that 3.5% of sheep and 4.1% of cattle were infected with CE. Fragment of cox1 was amplified from all the positive sheep and cattle samples by PCR. In addition, 26 positive samples across the 4 areas were included. The isolates were all E. granulosus sensu stricto (s.s.) containing 15 haplotypes (Hap1-15), and clustered into 2 genotypes, G1 (90.1%, 91/101) and G3 (9.9%, 10/101). Hap1 was the most common haplotype (48.5%, 49/101). Hap9 were found in humans samples, indicating that sheep and cattle reservoir human CE. It is indicate that E. granulosus may impact on control of CE in livestock and humans in the region.
Animals ; Cattle ; China ; Cross-Sectional Studies ; Echinococcosis ; Echinococcus granulosus ; Echinococcus ; Genotype ; Haplotypes ; Humans ; Livestock ; Parasites ; Polymerase Chain Reaction ; Prevalence ; Sheep

OBJECTIVETo investigate the association between ambient fine particulate matter with aerodynamic diameter less than 2.5 μm (PM2.5) and the risk on preterm birth.

METHODSA total of 1 882 pregnant women with local residency of Taiyuan city and underwent delivery at the First Hospital of Shanxi Medical University with the dates of conception between January 1 and December 31, 2013, were enrolled in the study. Information on general demographics, home address and history on pregnancy, lifestyle and related environmental factors were collected through in-person interview. Birth outcomes and maternal complications were abstracted from medical records. Data on the amount of daily average PM2.5 from 8 monitor points in Taiyuan city, between March 1, 2012 and December 31, 2013 were also collected. Individual exposure during pregnancy were calculated using the inverse-distance weighting method, based on home address. Multivariate unconditional logistic regression model was used to examine the associations among PM2.5 exposure, risk of preterm birth and related clinical subtypes.

RESULTSThe overall incidence of preterm birth was 8.21% (151/1 839)in 1 839 pregnant women. Exposure to ambient PM2.5 during the second week prior to delivery was associated with an increased risk of preterm birth (OR=1.087, 95% CI: 1.001-1.182 per 10 μg/m(3) increase) and mild preterm birth (OR=1.099, 95% CI: 1.007-1.200 per 10 μg/m(3)). Compared to data from the China Environmental Air Quality Standard, higher level of exposure (≥75 μg/m(3)) of PM2.5 during the second week before delivery was associated with an increased risk of preterm birth (OR=1.008, 95%CI: 1.000-1.017) but the association was mainly seen for mild preterm birth (OR=1.010, 95%CI: 1.001-1.018).

CONCLUSIONSRESULTS from our study showed that exposure to high level of PM2.5 during late pregnancy would increase the risk of preterm birth. Future large studies are needed to examine the association by preterm clinical subtypes and to elucidate potential underlying mechanisms.

China ; epidemiology ; Environmental Exposure ; adverse effects ; analysis ; Female ; Humans ; Incidence ; Infant, Newborn ; Logistic Models ; Maternal Exposure ; Particle Size ; Particulate Matter ; analysis ; toxicity ; Pregnancy ; Pregnancy Complications ; Premature Birth ; chemically induced ; epidemiology ; Public Health ; statistics & numerical data

Objective To analyze the clinical risk factors of hemorrhagic transformation (HT) of cardiogenic cerebral embolism and the influence of HT on outcome. Methods The clinical data of 115 inpatients were reviewed from May, 2012 to December, 2015. They were di-vided into HT group (n=58) and non-HT group (n=57). The age, anticoagulant therapy, thrombolytic therapy, infarction diameter, diabetes, coronary heart disease, hyperlipidemia, the National Institutes of Health Stroke Scale (NIHSS) score and HAS-BLED score were compared. The risk factors for HT was screened with the multivariate Logistic regression. NIHSS score and Modified Rankin Scale (mRS) score as hos-pitalization, and one month and three months after stroke were compared. Results There were significant difference in NIHSS score (t=-2.991, P=0.003) and HAS-BLED score (t=-2.499, P=0.014), as well as infarction diameter (χ2=8.355, P=0.004) between HT group and non-HT group. NIHSS score (OR=1.127, P=0.027), HAS-BLED score (OR=1.783, P=0.03) and infarction diameter (OR=4.390, P=0.035) were the risk factors for HT. The incidence of HT was less in low-risk group (HAS-BLED score=0-2) than in high-risk group (HAS-BLED score≥3) (χ2=4.643, P=0.031). The NIHSS score as hospitalization, and one month and three months after stroke were all more in HT group than in non-HT group (t>2.387, P<0.05). The mRS score was more in HT group as hospitalization (t=-2.262, P=0.026), but not significant one and three months later (t<1.468, P>0.05). Conclusion HT tends to happen in the patients of cerebral embolism patients after atrial fibril-lation with severe neural function defect, large infarction diameter and high HAS-BLED score. The neural function is poor in those with HT.