Objective:To examine the clinical features and genetic profiles of patients with thyroid peroxidase(TPO) gene mutations and provide diagnostic guidance for clinicians.Methods:A retrospective review of four patients with TPO mutations treated at Ruijin Hospital, Shanghai Jiao Tong University School of Medicine, from January 2014 to December 2023. Data on demographics, clinical manifestation, genotypes, treatment, and prognosis of these patients were analyzed.Results:Two males and two females, aged 13 to 27 years at diagnosis, presented with goiter as the initial symptom, with three cases menifesting during puberty. Laboratory findings showed mildly elevated or upper-limit-normal serum thyroid-stimulating hormone(TSH) levels, significantly increased free triiodothyronine/free thyroxine(FT 3/FT 4) ratios, and elevated thyroglobulin(TG) levels. Genetic testing revealed compound heterozygous pathogenic or likely pathogenic TPO mutations. Despite regular levothyroxine(L-T 4) therapy, goiter persisted. Three patients required thyroidectomy due to cosmetic or compressive symptoms, with pathology showing follicular hyperplasia. Conclusion:TPO mutations are characterized by adolescent-onset goiter, elevated FT 3/FT 4 ratios, and normal to high TSH. Genetic testing confirms the diagnosis. L-T 4 offers limited improvement, and surgery is often needed.

Objective:To examine the clinical features and genetic profiles of patients with thyroid peroxidase(TPO) gene mutations and provide diagnostic guidance for clinicians.Methods:A retrospective review of four patients with TPO mutations treated at Ruijin Hospital, Shanghai Jiao Tong University School of Medicine, from January 2014 to December 2023. Data on demographics, clinical manifestation, genotypes, treatment, and prognosis of these patients were analyzed.Results:Two males and two females, aged 13 to 27 years at diagnosis, presented with goiter as the initial symptom, with three cases menifesting during puberty. Laboratory findings showed mildly elevated or upper-limit-normal serum thyroid-stimulating hormone(TSH) levels, significantly increased free triiodothyronine/free thyroxine(FT 3/FT 4) ratios, and elevated thyroglobulin(TG) levels. Genetic testing revealed compound heterozygous pathogenic or likely pathogenic TPO mutations. Despite regular levothyroxine(L-T 4) therapy, goiter persisted. Three patients required thyroidectomy due to cosmetic or compressive symptoms, with pathology showing follicular hyperplasia. Conclusion:TPO mutations are characterized by adolescent-onset goiter, elevated FT 3/FT 4 ratios, and normal to high TSH. Genetic testing confirms the diagnosis. L-T 4 offers limited improvement, and surgery is often needed.

The fall armyworm (FAW), Spodoptera frugiperda, is a destructive pest native to America and has recently become an invasive insect pest in China. Because of its rapid spread and great risks in China, understanding of FAW genetic background and pesticide resistance is urgent and essential to develop effective management strategies. Here, we assembled a chromosome-level genome of a male FAW (SFynMstLFR) and compared re-sequencing results of the populations from America, Africa, and China. Strain identification of 163 individuals collected from America, Africa and China showed that both C and R strains were found in the American populations, while only C strain was found in the Chinese and African populations. Moreover, population genomics analysis showed that populations from Africa and China have close relationship with significantly genetic differentiation from American populations. Taken together, FAWs invaded into China were most likely originated from Africa. Comparative genomics analysis displayed that the cytochrome p450 gene family is extremely expanded to 425 members in FAW, of which 283 genes are specific to FAW. Treatments of Chinese populations with twenty-three pesticides showed the variant patterns of transcriptome profiles, and several detoxification genes such as AOX, UGT and GST specially responded to the pesticides. These findings will be useful in developing effective strategies for management of FAW in China and other invaded areas.
Animals ; China ; Genomics ; Humans ; Male ; Pesticides ; Spodoptera/genetics* ; Transcriptome

The vagina contains at least a billion microbial cells,dominated by lactobacilli.Here we perform metagenomic shotgun sequencing on cervical and fecal samples from a cohort of 516 Chinese women of reproductive age,as well as cervical,fecal,and salivary samples from a second cohort of 632 women.Factors such as pregnancy history,delivery history,cesarean section,and breastfeeding were all more important than menstrual cycle in shaping the microbiome,and such information would be necessary before trying to interpret differences between vagino-cervical micro-biome data.Greater proportion of Bifidobacterium breve was seen with older age at sexual debut.The relative abundance of lactobacilli especially Lactobacillus crispatus was negatively associated with pregnancy history.Potential markers for lack of menstrual regularity,heavy flow,dysmenor-rhea,and contraceptives were also identified.Lactobacilli were rare during breastfeeding or post-menopause.Other features such as mood fluctuations and facial speckles could potentially be predicted from the vagino-cervical microbiome.Gut and salivary microbiomes,plasma vitamins,metals,amino acids,and hormones showed associations with the vagino-cervical microbiome.Our results offer an unprecedented glimpse into the microbiota of the female reproductive tract and call for international collaborations to better understand its long-term health impact other than in the settings of infection or pre-term birth.

Congenital generalized lipodystrophy type 1 (CGL1) is an autosomal recessive genetic disease caused by mutations in AGPAT2 gene. The main clinical mainifestations include body subcutaneous fat loss, muscle hypertrophy, obvious subcutaneous veins, pseudoacromegaly, hirsutism, and acanthosis nigricans. What′s more, CGL1 is always accompanied by metabolic diseases. Therefore, it is easily misdiagnosed as metabolic syndrome, type 2 diabetes, polycystic ovary syndrome, acromegaly, or Cushing′s syndrome. Meanwhile, it is difficult to distinguish it from partial lipoatrophy syndrome. In this article, we present clinical and molecular characteristics of a patient with CGL1 and review mutations reported in literature to replenish current knowledge about this orphan disease.

Objective:To survey the status quo of job burnout among rural general practitioners and to analyze its influencing factors.Methods:A total of 2 805 rural general practitioners in three counties in southwest Shandong province were enrolled in the study. The survey was conducted with a basic information questionnaire and the Maslach Burnout Inventory-Human Service Survey (MBI-HSS). The influencing factors of job burnout were analyzed by Pearson chi-square test (χ2) and binary logistic regression model.Results:A total of 2 272 rural general practitioners completed the survey with a completion rate of 81.0%. The rates of middle or high job burnout in the dimensions of emotional exhaustion, depersonalization and reduced personal sense of achievement were 55.1%(1 251/2 272), 34.0%(772/2 272) and 91.3%(2 075/2 272), respectively. Binary logistic regression model showed that working hours/week ≥ 60 h ( OR=1.341, 95 %CI:1.057-1.702, P<0.05), monthly shift times ≥20 ( OR=1.434, 95 %CI:1.182-1.739, P<0.05), daily consultation time≥13 h ( OR=1.294, 95 %CI:1.055-1.589, P<0.05), daily consultation of 11-20 patients ( OR=1.317, 95 %CI:1.075-1.614, P<0.05), no part-time job ( OR=1.583, 95 %CI:1.201-2.087, P<0.05), insomnia ( OR=2.638, 95 %CI:2.225-3.128, P<0.05), feeling depressed at work ( OR=3.170, 95 %CI:2.661-3.776, P<0.05) were risk factors for emotional exhaustion; participation in public health services ( OR=1.485, 95 %CI:1.155-1.910, P<0.05), being married ( OR=2.273, 95 %CI:1.198-4.313), no part-time jobs ( OR=1.677, 95 %CI:1.276-2.203, P<0.05), insomnia ( OR=1.487, 95 %CI:1.211-1.827, P<0.05), and feeling depressed at work ( OR=1.642, 95 %CI:1.339-2.015, P<0.05) were risk factors for depersonalization; working hours/week ≥ 60 h ( OR=2.089, 95 %CI:1.454-3.002, P<0.05), daily consultation time ≥ 9 h ( OR=2.495, 95 %CI:1.748-3.561, P<0.05), insomnia ( OR=2.061, 95 %CI:1.519-2.796, P<0.05), and feeling depressed at work ( OR=1.894, 95 %CI:1.383-2.593, P<0.05) were risk factors for reduced personal achievement. Protective factors included monthly income ≥3 000 Yuan ( OR=0.589, 95 %CI: 0.353-0.982, P<0.05) and monthly shift of 10-19 times ( OR=0.581, 95 %CI:0.411-0.820, P<0.05). Conclusion:The overall job burnout among rural general practitioners in southwest Shandong province is serious, especially the depersonalization and the reduction of personal sense of achievement. It is suggested to improve the salary, reduce the working intensity, optimize the working hours, and pay attention to their physical and mental health for rural general practitioners to alleviate the current situation of their occupational burnout.

Objective To compare the safety and short-term efficacy of laparoscopic repeat hepatectomy (LRH) with open repeat hepatectomy (ORH) for recurrent hepatocellular carcinoma (rHCC).Methods The clinical data of 33 patients with rHCC who underwent hepatectomy at Nanfang Hospital,Southern Medical University from August 2015 to November 2017 were retrospectively analyzed.There were 24 males and 9 females.The patients were divided into LRH group (n=15) and ORH group (n=18).The preoperative clinical data,operative and postoperative data of the two groups were compared.Results No significant differences were observed in the preoperative clinical data of the two groups,including the extent of the previous hepatectomy,the interval between the two surgeries,the number of tumors,and the maximum diameter of tumors.No significant differences were observed in the liver resection method,portal occlusion time and operation duration between the two groups.Blood loss was significantly lower in the LRH group [(66.7±86.1) ml vs.(251.1±75.6) ml,P＜0.05].The total hospitalization expenses,first postoperative white blood cell count,and hepatic insufficiency in the two groups were not significantly different (P＞0.05).The postoperative diet recovery was significantly shorter (1.2±0.4) days vs.(2.9± 1.4) days,the inflammation indicator NEU％ was significantly decreased (83.6±4.8)％ vs.(88.2±3.7)％,and the length of postoperative hospital stay (6.3±2.9) days vs.(9.8± 3.7)days was significantly shorter in the LRH group (P＜0.05).Conclusions LRH was safe and effective in the treatment of rHCC,LRH was superior in reducing intraoperative blood loss,promoting postoperative recovery and shortening hospital stay when compared to ORH.

Objective To examine the characteristics of spontaneous activity of brain regions in bipolar Ⅱ depression patients by using resting state fMRI technology, and explore the pathogenesis of bipolarⅡdepression.Methods In total 21 bipolarⅡdepression patients(BD group)and 21 gender-,age-and education-matched healthy controls(HC group)were recruited.The patients were diagnosed according to the DSM-Ⅳ criteria, and the symptoms were evaluated by the Montgomery-Asberg Depression Rating Scale (MADRS), HAMD17and HAMA. The resting-state data was collected via a 3.0 T GE MRI, and was analyzed using an amplitude of low-frequency fluctuation(ALFF)approach,and two-samples t test was used to analyze the difference between BD group and HC group.Correlation analysis was used between the mean value of ALFF in brain regions which were significantly different from the other regions and the depression severity. The brain areas that were significantly different from the other brain regions were regarded as regions of interest,and were made functional connectivity with the whole brain.The functional connectivity was compared between the two groups to explore the impaired emotional network in bipolar Ⅱdepression. Results The ALFFs of left paracentral lobule(t=3.80),right precuneus(t=3.54)and right precentral gyrus(t=3.66) in BD group were significantly higher than HC group(all P<0.05, GRF correction). In BD group, the ALFFs of the left orbital frontal gyrus (r=0.75) and right orbital frontal gyrus (r=0.80) were positively correlated with the HAMA score.The ALFFs of bilateral gyri rectus(r=0.73)and brain regions near the left insular lobe (r=0.74) were positively correlated with the HAMD17score. The ALFF of region 2 of right cerebellar peduncles (r=-0.65) was negatively correlated with the MADRS score(all P<0.05). The functional connectivity between paracentral lobule, precuneus, precentral gyrus and left middle frontal gyrus, left anterior cingulate gyrus together with its lateral gyrus in BD group was significantly increased relative to HC group (t=4.47,4.07; both P<0.05), while the functional connectivity between the right rectangular shape crack and the cortex around was decreased in BD group (t=4.54,P<0.05). Conclusion In bipolar Ⅱ depression patients, the brain function of left paracentral lobule, right precuneus and right precentral gyrus may be impaired and correlated with severity of depressive.

Objective To examine the characteristics of spontaneous activity of brain regions in bipolar Ⅱ depression patients by using resting state fMRI technology, and explore the pathogenesis of bipolarⅡdepression.Methods In total 21 bipolarⅡdepression patients(BD group)and 21 gender-,age-and education-matched healthy controls(HC group)were recruited.The patients were diagnosed according to the DSM-Ⅳ criteria, and the symptoms were evaluated by the Montgomery-Asberg Depression Rating Scale (MADRS), HAMD17and HAMA. The resting-state data was collected via a 3.0 T GE MRI, and was analyzed using an amplitude of low-frequency fluctuation(ALFF)approach,and two-samples t test was used to analyze the difference between BD group and HC group.Correlation analysis was used between the mean value of ALFF in brain regions which were significantly different from the other regions and the depression severity. The brain areas that were significantly different from the other brain regions were regarded as regions of interest,and were made functional connectivity with the whole brain.The functional connectivity was compared between the two groups to explore the impaired emotional network in bipolar Ⅱdepression. Results The ALFFs of left paracentral lobule(t=3.80),right precuneus(t=3.54)and right precentral gyrus(t=3.66) in BD group were significantly higher than HC group(all P<0.05, GRF correction). In BD group, the ALFFs of the left orbital frontal gyrus (r=0.75) and right orbital frontal gyrus (r=0.80) were positively correlated with the HAMA score.The ALFFs of bilateral gyri rectus(r=0.73)and brain regions near the left insular lobe (r=0.74) were positively correlated with the HAMD17score. The ALFF of region 2 of right cerebellar peduncles (r=-0.65) was negatively correlated with the MADRS score(all P<0.05). The functional connectivity between paracentral lobule, precuneus, precentral gyrus and left middle frontal gyrus, left anterior cingulate gyrus together with its lateral gyrus in BD group was significantly increased relative to HC group (t=4.47,4.07; both P<0.05), while the functional connectivity between the right rectangular shape crack and the cortex around was decreased in BD group (t=4.54,P<0.05). Conclusion In bipolar Ⅱ depression patients, the brain function of left paracentral lobule, right precuneus and right precentral gyrus may be impaired and correlated with severity of depressive.

Objective To investigate the influence of ropivacaine with isodosage on heart rate variability (HRV ) following interscalene brachial plexus block under ultrasound guidance. Methods Forty-five ASA grade Ⅰ patients (28 males,1 7 females,aged 18-50 years)scheduled for upper limb fracture internal fixation removal were randomized into group R1 (0.375% ropivacaine 40ml),group R2(0.5% ropivacaine 30ml)and group R3 (0.75% ropivacaine 20 ml),1 5 in each group.Changes in HRV,such as LF,HF,LF/HF,SDNN,RMSSD,PNN50% were evaluated with dynamic electrocardiogram.The degree and duration of sensory and motor block were recorded 30 min after drug injection.Results The anesthetic effect and maintaining time had no significant difference among the groups.The incidence rate of Horner syndrome had no significant difference among groups,group R1 was 26.7%,group R2 20% and group R3 20%.LF(30 min after drug injection)in both group R2 and group R3 were significantly decreased compared with that before drug injection, and the decreased degree of LF had significant difference among the three groups.SDNN(30 min after drug injection)in group R2 and PNN50% in group R3 were significantly decreased compared with that before drug injection.The time required for LF,the most obvious changeable HRV parameter, returning to the pre injection level was (876.2 +43.7)min for group R1,(798.8 + 61.5 )min for group R2, group R3 (712.2 + 45.7 ) min, the difference between the three groups was not statistically significant.Conclusion ISBPB can affect the stability of the cardiovascular autonomic ac-tivities by reducing the cardiac sympathetic nerve function and increasing parasympathetic nerve func-tion,possibly through blockade of stellate ganglion or branches of vagus nerve.Along with the in-crease of the dose of anesthetic,the influence on HRV is greater.