Hereditary endocrine and metabolic diseases , caused by genetic factors, exhibit complex and diverse symptoms, including the possibility of concurrent sensorineural deafness. Currently, there is a limited clinical understanding of hereditary endocrine and metabolic diseases that manifest with deafness, the pathogenesis remains unclear,and there is a lack of effective diagnostic and treatment methods. This article summarizes the research progress of hereditary endocrine and metabolic diseases complicated with deafness from the pathogenesis, clinical phenotype, diagnosis and treatment. Understanding the current research progress and integrating genetic analysis into clinical practice are crucial for accurate diagnosis and treatment, evaluating clinical efficacy, and providing effective genetic counseling for these diseases.
Humans ; Deafness/genetics* ; Hearing Loss, Sensorineural/diagnosis* ; Phenotype ; Metabolic Diseases/genetics* ; Genetic Counseling

Objective:To compare the phylotypes of Staphylococcus epidermidis (SE) in skin lesions of acne vulgaris patients versus hair follicles of healthy people, and to analyze their roles in the pathogenesis of acne vulgaris. Methods:A cross-sectional study was conducted from August 2022 to August 2023. Patients with moderate acne vulgaris, as well as healthy volunteers, were enrolled from the Department of Dermatology, Renji Hospital, School of Medicine, Shanghai Jiaotong University. SE strains were isolated from the pustules of acne vulgaris patients and hair follicles of healthy volunteers. Housekeeping genes were amplified by PCR. Sequencing and multilocus sequence typing were performed to compare the phylotypes and genetic relationships of strains from different sources.Results:The acne group consisted of 28 patients (10 males and 18 females) with the age being 22.6 ± 2.6 years, while the healthy group consisted of 19 volunteers (7 males and 12 females) with the age being 22.4 ± 0.96 years. There were no significant differences in age or gender ratio between the two groups (both P > 0.05). The positive rates of SE in the samples of the acne group and the healthy group were 60.71% (17/28) and 73.68% (14/19), respectively, with no significant difference between the two groups ( P = 0.53). The 144 SE strains from the healthy group could be divided into 10 sequence types (STs), and the most common ST was ST35 (8 cases), followed by ST73 (4 cases), ST193 (2 cases), ST59 (2 cases) and ST540 (2 cases) ; 190 SE strains from the acne group could be divided into 16 STs, and the most common STs were ST59 (6 cases) and ST73 (6 cases), followed by ST802 (3 cases), ST130 (3 cases) and ST35 (2 cases). The positive rate of ST35 was significantly lower in the acne group than in the healthy group ( P = 0.018), while there were no significant differences in the positive rates of other STs between the two groups (all P > 0.05). The evolutionary tree analysis showed that the SE strains were mainly distributed in 3 branches. Most of the SE strains from the healthy group belonged to clade A. The proportion of SE strains in clade A ( M[ Q]) was significantly lower in the acne group (25% [85%]) than in the healthy group (100% [33.33%], P = 0.025), while the proportion of SE strains in clade B was significantly higher in the acne group (14.29% [89.17%]) than in the healthy group (0[0], U = 62, P = 0.010), and there was no significant difference in the proportion of SE strains in clade D between the acne group (0 [57.14%]) and healthy group (0[4.17%], P = 0.420) . Conclusion:The phylotypes of SE strains differed between acne vulgaris patients and healthy controls, possibly associated with the occurrence and development of acne vulgaris.

BACKGROUND: SMARCA2 (SWI/SNF Related, Matrix Associated, Actin Dependent Regulator of Chromatin, Subfamily A, Member 2) is an important ATPase catalytic subunit in the switch-sucrose nonfermenting (SWI/SNF) complex. However, its relationship with the pathological features of NSCLC and its prognosis remain unclear. METHODS: We retrospectively reviewed 2390 patients with surgically resected NSCLC, constructed tissue microarrays (TMAs) and performed immunohistochemical assays. We analyzed the correlation of SAMRCA2 with clinicopathological features and evaluated its prognostic value. RESULTS: Among 2390 NSCLC cases, the negative expression ratios of SAMRCA2, SMARCA4, ARID1A, ARID1B and INI1 were 9.3%, 1.8%, 1.2%, 0.4% and 0%, respectively. In NSCLC, male sex, T3 and T4 stage, moderate and poor differentiation, tumor ≥ 2 cm, Ki67 ≥ 15%, SOX-2 negative expression, middle lobe lesion and adenocarcinoma were relative risk factors affecting SMARCA2-negative expression. In lung adenocarcinomas, high-grade nuclei, histological morphology of acinar and papillary, solid and micropapillary and TTF-1-negative expression were relative risk factors affecting SMARCA2-negative expression. Kaplan-Meier survival analysis showed that the OS was shorter in the SMARCA2-negative group. Multivariate survival analysis revealed that SMARCA2-negative expression was an independent factor correlated with a poor prognosis in NSCLC. CONCLUSION In conclusion, SMARCA2-negative expression is an independent predictor of a poor outcome of NSCLC and is a potential target for NSCLC treatment.
Adenosine Triphosphatases/metabolism* ; Carcinoma, Non-Small-Cell Lung/genetics* ; Humans ; Male ; Retrospective Studies ; Transcription Factors/genetics*

Objective:To analyze the clinical characteristics, antibiotic resistance and prognostic risk factors of patients with Klebsiella pneumoniae bloodstream infection (Kp BSI).Methods:The clinical data of 188 patients diagnosed with Kp BSI from January 1，2017 to December 1，2021 in Beijing Shijitan Hospital, Capital Medical University were retrospectively analyzed.There were 118 patients males (62.8%) with a median age 77.0(63.0, 85.0) years old. The median length of hospital stay was 20.0 days, and 78 patients (41.5%) were admitted to intensive care unit(ICU). There were 121 cases with carbapenem-sensitive Klebsiella pneumoniae (64.4%, CSKP group) and 67 cases with carbapenem-resistant Klebsiella pneumoniae (35.6%, CRKP group).Fifty six patients died within 28 days after admission (death group), and 132 patients survived (survival group).The clinical characteristics and bacterial drug resistance of Kp BSI patients were analyzed, and univariate analysis and multivariate logistic regression analysis were used to explore factors related to the CRKP infection and patient mortality.Results:The most common infection sites were respiratory system, abdominal cavity and biliary tract accounting for 39.4% (74/188), 18.1% (34/188) and 14.4% (27/188), respectively.The common comorbidities were coronary heart disease, hypertension, chronic kidney disease and diabetes, accounting for 63.8% (120/188), 59.6% (112/188), 46.3% (87/188) and 43.1% (81/188), respectively and 118 patients (62.8%) had 3 or more comorbidities. Most patients (146 cases, 77.7%) underwent ≥1 invasive procedures before bloodstream infection;and 90 patients (47.9%) had a history of antibiotic use. CRKP strains showed higher resistance rates to piperacillin, quinolones, cephalosporins and carbapenems. Univariate analysis showed that there were statistically significant differences in age (69.0 vs. 83.0 years), ICU admission 25.6%(31/121) vs. 70.1%(47/67)], invasive procedures [67.8%(82/121) vs. 95.5 %(64/67)], and antibiotic use [37.2% (45/121) vs. 67.2%(45/67)] between the CSKP group and the CRKP group ( Z=-5.73, χ 2=35.22, χ 2=19.15, χ 2=15.53, all P<0.001). Multivariate logistic regression analysis showed that age, ICU admission, invasive procedures and antibiotic use in recent 30 days were independent risk factors for CRKP infection( OR=1.06, P<0.001; OR=3.22, P=0.003; OR=5.93, P=0.009; OR=2.40, P=0.022). The total fatality rate was 29.8%(56/188). Univariate analysis showed that there were statistically significant differences in CRKP infection [19.7%(26/132) vs. 73.2% (41/56)], albumin level (32.6 vs. 27.8 g/L) and sequential organ failure assessment score (SOFA score, 2 vs. 8 score) between the survival group and the death group (χ 2=49.10, Z=-4.64, Z=-10.36,all P<0.001). Multivariate logistic regression analysis suggested that CRKP infection, low albumin and high SOFA score on the day of bloodstream infection were risk factors for death of Kp BSI patients( OR=5.13, P=0.021; OR=0.86, P=0.044; OR=3.04, P<0.001). Conclusion:Kp BSI patients have a high fatality rate and fairly severe drug resistance. CRKP infection, low albumin, high SOFA score on the day of bloodstream infection are associated with poor prognosis in Kp BSI patients.

Objective: Comparing the benefit of Abidor, lopinavir/ritonavir and recombinant interferon α-2b triple combination antiviral therapy and lopinavir/ritonavir and interferon dual combination antiviral therapy to hospitalized novel coronavirus pneumonia 2019 in Zhejiang province. Methods: A multi-center prospective study was carried out to compare the effect of triple combination antiviral therapy with dual combination antiviral therapy in 15 medical institutions of Zhejiang Province. All patients were treated with recombinant interferon α-2b (5 million U, 2 times/d) aerosol inhalation. 196 patients were treated with abidol (200 mg, 3 times/d) + lopinavir / ritonavir (2 tablets, 1 time/12 h) as the triple combination antiviral treatment group. 41 patients were treated with lopinavir / ritonavir (2 tablets, 1 time/12 h) as the dual combination antiviral treatment group. The patients who received triple combination antiviral therapy were divided into three groups: within 48 hours, 3-5 days and > 5 days after the symptom onset. To explore the therapeutic effects of triple combination antiviral drugs and dual combination antiviral drugs, as well as triple combination antiviral drugs with different antiviral initiate time. SPSS17.0 software was used to analyze the data. Results: The time of virus nucleic acid turning negative was (12.2 ± 4.7) days in the triple combination antiviral drug group, which was shorter than that in the dual combination antiviral drug group [(15.0 ± 5.0) days] (t = 6.159, P < 0.01 ). The length of hospital stay [12 (9, 17) d] in the triple combination antiviral drug group was also shorter than that in the dual combination antiviral drug group [15 (10, 18) d] (H = 2.073, P < 0.05). Comparing the antiviral treatment which was started within 48 hours, 3-5 days and > 5 days after the symptom onset of triple combination antiviral drug group, the time from the symptom onset to the negative of viral shedding was 13 (10,16.8), 17 (13,22) and 21 (18-24) days respectively (Z = 32.983, P < 0.01), and the time from antiviral therapy to the negative of viral shedding was (11.8±3.9) , (13.5±5.1) and (11.2±4.3) d. The differences among the three groups were statistically significant (Z=32.983 and 6.722, P<0.01 or<0.05). Conclusions The triple combination antiviral therapy of Abidor, Lopinavir/Litonavir and recombinant interferon α-2b showed shorter viral shedding time and hospitalization time compared with the dual combination antiviral therapy. The earlier the time to initiate triple antiviral treatment, the shorter the time of virus shedding.

Objective: To execute a hierarchical cluster of clinical laboratory indicators in patients with bunyavirus infection. Methods: From July 2015 to July 2017, 14 patients with bunyavirus infection in Zhoushan Hospital were selected.The blood routine, coagulation function and biochemical indicators were detected.Cluster analysis and grouping were carried out by hierarchical clustering method. Results: Hierarchical clustering classification was eventually divided into 2 cases of A category[with TT high and BNP high as the main characteristics(TThighBNPhigh)] and 12 cases of B category[with TT low and BNP low as the main characteristics (TTlowBNPlow)]. The days of hormone drugs and dosage of hormone drugs in A category were (7.43±3.53)d, (489.19±173.02)mg, respectively, which were higher than those in B category[(5.20±1.03)d and (115.11±46.58)mg], the differences were statistically significant(t=2.76, 55.56, all P<0.05). Conclusion It needs probably to pay more days and dose of hormonal drugs for patients with TThighBNPhigh.

Objective:To investigate the clinicopathological characteristics of non-Hodgkin lymphoma (NHL) in Shandong province.Methods:The clinicopathological data of 2 886 NHL cases in Shandong Cancer Hospital from January 2002 to December 2017 were retrospectively analyzed, the clinicopathological characteristics of patients were summarized and compared with other regions in China and abroad.Results:The median age of all NHL cases was 52 years old (4-90 years old), and the ratio of male to female was 1.57∶1. The subtypes distribution analysis revealed that B-cell NHL (B-NHL) accounted for 66.7% (1 925 cases) of all cases and T-cell NHL (T-NHL) accounted for 27.3% (788 cases) of all cases. The common subtypes were diffuse large B-cell lymphoma (36.0%, 1 039/2 886), NK/T-cell lymphoma (8.8%, 254/2 886), follicular lymphoma (8.2%, 237/2 886) and peripheral T-cell lymphoma (7.4%, 214/2 886). Of all the cases, the nodal lymphomas accounted for 45.8% (1 322 cases) and the extra nodal lymphomas accounted for 54.2% (1 564 cases); there were 389 patients (13.5%) with stage Ⅰ, 678 patients (23.5%) with stage Ⅱ, 975 patients (33.8%) with stage Ⅲ, and 722 patients (25.0%) with stage Ⅳ. The distribution of NHL subtypes in Shandong province was consistent with the domestic multicenter study. However, T-NHL subtype ratio was significantly higher than the foreign studies.Conclusions:The overall incidence of NHL in Shandong province of China is dominated by middle-aged people, and the proportion of B-NHL is higher than that of T-NHL. The distribution of NHL subtypes in Shandong province of China are different from those in the European and American countries, but are roughly consistent with the domestic multicenter study.

Objective:To compare the efficacy of the combination of abidol, lopinavir/ritonavir plus recombinant interferon α-2b (rIFNα-2b) and the combination of lopinavir/ritonavir plus rIFNα-2b for patients with COVID-19 in Zhejiang province.Methods:A multicenter prospective study was carried out to compare the efficacy of triple combination antiviral therapy and dual combination antiviral therapy in 15 medical institutions of Zhejiang province during January 22 to February 16, 2020. All patients were treated with rIFNα-2b (5 million U, 2 times/d) aerosol inhalation, in addition 196 patients were treated with abidol (200 mg, 3 times/d) + lopinavir/ritonavir (2 tablets, 1 time/12 h) (triple combination group) and 41 patients were treated with lopinavir/ritonavir (2 tablets, 1 time/12 h) (dual combination group). The patients who received triple combination antiviral therapy were further divided into three subgroups: <48 h, 3-5 d and >5 d according the time from the symptom onset to medication starting. The therapeutic efficacy was compared between triple combination group and dual combination group, and compared among 3 subgroups of patients receiving triple combination antiviral therapy. SPSS 17.0 software was used to analyze the data.Results:The virus nucleic acid-negative conversion time in respiratory tract specimens was (12.2±4.7) d in the triple combination group, which was shorter than that in the dual combination group [(15.0±5.0) d] ( t=6.159, P<0.01). The length of hospital stay in the triple combination group [12.0 (9.0, 17.0) d] was also shorter than that in the dual combination group [15.0 (10.0, 18.0) d] ( H=2.073, P<0.05). Compared with the antiviral treatment which was started within after the symptom onset of in the triple combination group, the time from the symptom onset to the viral negative conversion was 13.0 (10.0, 17.0), 17.0 (13.0, 22.0) and 21.0 (18.0, 24.0) d in subgroups of 48 h, 3-5 d and >5 d, respectively ( Z=32.983, P<0.01), while the time from antiviral therapy to viral negative conversion was (11.8±3.9), (13.5±5.1) and (11.2±4.3) d, respectively( Z=6.722, P<0.05). Conclusions:The triple combination antiviral therapy of abidol, lopinavir/litonavir and rIFNα-2b shows shorter viral shedding time and shorter hospitalization time, compared with the dual combination antiviral therapy; and the earlier starting triple combination antiviral therapy will result in better antiviral efficacy.

Objective:To explore the clinical features and pathogenic mechanisms of a special syndrome with congenital sensorineural hearing loss, albinism, heterochromia iridis, nystagmus and myelin dysplasia.Methods:Detailed medical history, systematic audiology tests, ophthalmic and neurological examinations were carried out to analyze the clinical features of the child, and further molecular genetic tests including chromosome karyotype analysis, and deafness gene screening were conducted.Results:A new de novo heterozygous mutation (c.336G>T/p.Met112Ile) was detected in the child, while both his parents were demonstrated to be wild-type and symptom free. The analysis of clinical features indicated the diagnosis of PCW syndrome. Conclusion:This study identified a new mutation of SOX10 gene, which enriched the mutation spectrum of this gene. And the analysis of clinical characteristics of this patient also expanded the phenotype of this gene. This study provided a reference for clinical diagnosis and genetic diagnosis of PCW syndrome.

Metronomic chemotherapy is a brand-new and multi-target chemotherapy strategy.Totally different from the traditional chemotherapy,metronomic chemotherapy can exert synergistic and durable anti-tumor effects via multiple mechanisms,including cytotoxic effect,anti-angiogenesis,immune regulation and so on.Single and combined therapy modes of metronomic oral vinorelbine have good curative effects and safeties for the treatment of advanced non-small cell lung cancer.With the in-depth understanding of metronomic chemotherapy,it will certainly become an important treatment mode for advanced non-small cell lung cancer.