OBJECTIVE: To investigate the clinical and genetic characteristics of a family with hereditary spherocytosis (HS), to clarify the cause of the disease, and to provide the basis for genetic counseling and prenatal diagnosis. METHODS: The clinical data of proband and his parents were collected, and HS-related pathogenic genovariation of the proband was detected by high throughput sequencing. Suspected pathogenic mutation sites were verified by PCR-Sanger sequencing, and the fetus were conceived by a proband mother underwent prenatal diagnosis. RESULTS: Clinical manifestations of the proband showed moderate anemia, mild splenomegaly, and jaundice (an indirect increase of bilirubin). The gene detection showed that the proband showed compound heterozygous mutations of SPTB gene c. 6095T > C (p.Leu2032Pro) and c. 6224A > G (p.Glu2075Gly), which was inherited from the asymptomatic mother and father, respectively. Both mutations were detected rarely in the common population. Prenatal diagnosis revealed that the fetus inherited a mutant gene of the mother. CONCLUSION The compound heterozygous mutations of SPTB genes c.6095T>C (p.Leu2032Pro) and c.6224A>G (p.Glu2075Gly) were the causes of the family disease, which provides a basis for family genetic counseling and prenatal diagnosis. This report is the first one found in the HGMD,1000G and EXAC database, which provides an addition to the mutation profile of the SPTB gene.
Female ; Genetic Testing ; High-Throughput Nucleotide Sequencing ; Humans ; Infant, Newborn ; Male ; Mutation ; Pedigree ; Pregnancy ; Prenatal Diagnosis ; Spectrin/genetics* ; Spherocytosis, Hereditary/genetics*

Abstract: Objective To analyze the occupational hazards of enterprises in Pingshan district of Shenzhen in 2017. Methods Occupational hazards were analyzed in 200 enterprises in Pingshan district of Shenzhen City selected using stratified Results random sampling method. A total of 24 industries were involved in the 200 enterprises. The declaration rate of ， occupational hazards was 91.5% and the exposure rate of occupational hazards among workers was 49.2%. The regular monitoring rate of occupational hazard factors in workplaces of the enterprises was 79.5%. There were 129 kinds of occupational ， ， hazard factors of which 19 factors exceeded the national occupational exposure limit accounting for 14.7%. The over standard ， ， ， ， ， ， ， ， rates of noise silica dust cotton dust methanol toluene and other dust were 28.7% 13.6% 11.8% 5.86% 0.5% and ， ， 0.4% respectively. There were 13 kinds of occupational hazard factors in the workplace of metal products industry all of which （ ） exceeded the occupational exposure limit. The exposure rate 56.7% of occupational hazard factors in workers was the highest. Conclusion ， ， The main occupational hazard factors were noise dust and chemical factor and the major occupational hazard industry was metal manufacturing in Pingshan district of Shenzhen City.

Abstract: Objective To understand the distribution and drug resistance of pathogenic bacteria of bloodstream infection in Fujian Province, and to provide reference for clinical rational drug use. Methods Bacteria identification and antimicrobial susceptibility test were carried out on the isolated strains of blood culture samples in 31 medical institutions in Fujian Province according to the unified plan. The data were statistically analyzed by WHONET 5.6 software according to the Clinical and Laboratory Standards Institute (CLSI) drug sensitivity executive standard in 2021. Results After removing the duplicate strains, 10 356 strains of bacteria were collected, including 3 668 strains of Gram-positive bacteria (35.4%) and 6 688 strains of Gram-negative bacteria (64.6%). The top 5 bacteria are Escherichia coli, Klebsiella pneumoniae, coagulase negative Staphylococcus, Staphylococcus aureus and Pseudomonas aeruginosa. In this study, the detection rate of methicillin-resistant Staphylococcus aureus (MRSA) was 24.5%, and the detection rate of methicillin-resistant coagulase-negative Staphylococcus aureus (MRCNS) was 76.8%. Vancomycin, teicoplanin and linezolid resistant staphylococci were not found. The detection rate of penicillin resistant Streptococcus pneumoniae was 3.2%. Vancomycin resistant Enterococcus faecalis and Enterococcus faecium were 0.8% and 1.1% respectively. The resistance rate of Escherichia coli to carbapenems was 0.8%, and the resistance rate to levofloxacin was 41.9%; the resistance rate of Klebsiella pneumoniae to carbapenems was 15.0%. The resistance rate of Acinetobacter baumannii to carbapenems was 45.1%; the detection rate of Pseudomonas aeruginosa was only 14.2%, and it maintained a high sensitivity to most drugs. Conclusions Most bloodstream infections in Fujian Province are caused by Escherichia coli, Klebsiella pneumoniae and Staphylococcus. The drug resistance of some strains is not optimistic, so we should continue to strengthen the clinical application management of antibiotics and use them correctly and reasonably. Keywords: Bloodstream infection; bacteria; antibiotics; drug resistance monitoring

OBJECTIVE: To investigation the types and frequencies of thalassemia gene mutations in pregnant population in Nanping area of Fujian Province, so as to provide a basis for prevention and control of birth children with moderate and severe thalassaemia in this area. METHODS: The genotyping of α and β thalassemia was performed using the gap-PCR (gap-PCR) technique combined with reverse dot blot (RDB). The genotyping test was performed by Gap-PCR for three rare deficient thalassemia. The cases with negative detection were further detected by Sanger sequencing method, so as to identify rare α or β thalassemia mutation. RESULTS: 1120 specimens were genotyped for thalassemia, out of them 547 thalassemia genes were determined. The detection rate was 48.8% (547/1120). 340 specimens were diagnosed as α thalassemia, and the detection rate was 30.6%, including 266 cases of --/αα, 44 cases of -α/αα, 12 cases of -α/αα, 8 cases of αα/αα,. 3 cases of Hb H disease ( 2 cases of --/-α, 1 case of --/-α), 2 cases of αα/αα, 2 cases of αα/αα, 1 case of -α/-α, and 1 case of -α/αα. Also, they contain 11 cases of rare α thalassemia, 8 kinds of rare types of α thalassemia mutations in combination, such as 4 cases of αα/αα, 1 case of αα/αα, 1 case of αα/αα, 1 case of αα/αα, 1 case of αα/αα, 1 case of αα/αα, 1 case of αα/αα, and 1 case of --/αα. Among them, 5 α mutation sites were first reported, namely αα, αα, αα, αα and αα; 2 α thalassemia mutation sites: αα and -- were detected again in the Chinese population, respectively. 188 specimens were diagnosed as β thalassemia with a detection rate of 16.8%. Among them, 68 cases of β/βN, 47 cases of β/βN, 20 cases of β/βN, 17 cases of β/βN, 7 cases of β/βN, 7 cases of βE/βN, 3 cases of β/βN and 2 cases of β/βN. And 17 cases were diagnosed as rare β thalassemia, 8 kinds of rare types were β thalassemia mutations in combination. There were 4 cases of β/βN, 3 cases of β/βN, 3 cases of β/βN, 2 cases of β/βN, 2 cases of β/βN, 1 case of β/βN, 1 case of β/βN, 1 case of β/βN. Among them, 3 β thalassemia mutation sites were reported for the first time, namely β, β and β; it was found that in the Chinese population as β, β, β, β, and β, respectively. 19 cases were diagnosed as αβ-complex thalassemia, out of which 15 types of thalassemia mutation combinations were detected. They contain 2 cases of rare αβ-complex thalassemia, which are αα/αα complex β/βN, αα in α1/αα complex β/βN. CONCLUSION The types of thalassemia gene mutations in Nanping area of Fujian province are genetically heterogeneous. The prevention and control strategies of thalassaemia in this area should be based on the prevention and treatment of common α thalassemia and β thalassaemia. And the attention should be paid to the types of rare and unknown gene mutations using screening and testing method.
China ; Female ; Genotype ; Humans ; Mutation ; Pregnancy ; Thailand ; alpha-Thalassemia ; genetics ; beta-Thalassemia ; genetics

Objective To explore the epidemiological characteristics and influencing factors of fall of elderly aged ≥ 60 years in Guangzhou from 2014 to 2018 ，so as to provide evidence for effective prevention and control measures． Methods Data on fall of the elderly was collected from the first diagno- sis in injury surveillance hospitals in Guangzhou from 2014 to 2018，and distribution description and epi- demiological analysis were adopted． Ｒesults 9 503 cases of fall of the elderly were reported in 5 injury surveillance hospitals，accounting for 49．41% of injuries in the elderly，and had occupied the first place in the cause of injury in 5 consecutive years． The sex ratio of men to women was 1 ∶ 1．67． Most of the patients had a primary or junior school degree，high rate in October-December，mainly occurred at home when doing leisure activities or life activities． The fall mainly led to injuries of head or lower extremities， contributed to contusion /bruise or fracture． And most of them were mild and moderate injury． Logistic re- gression showed that female，old age，high educational level，December to February，at home，walking， leisure activities and life activities were risk factors for falling among the elderly in Guangzhou ( all P ＜ 0．001) ． Conclusions Fall is the primary cause of injuries to the elderly in Guangzhou，especially the elderly female population． The targeted prevention and intervention measures should be developed ac- cording to their distribution characteristics．

BACKGROUND: Psoriasis is a chronic inflammatory skin disease, affecting about 0.6% of the Chinese population. Many patients are not well controlled by conventional treatments, thus there is need for new treatment regimens. In this study, we assessed the efficacy and safety of secukinumab in Chinese patients with moderate to severe plaque psoriasis. METHODS: This study was a 52-week, multicentre, randomized, double-blind, placebo-controlled, parallel-group, Phase 3 trial. A sub-population of study participants (≥18 years) of Chinese ethnicity were randomized to receive subcutaneous injections of 300 or 150 mg secukinumab, or placebo. The co-primary endpoints were psoriasis area severity index (PASI) 75 and Investigator's Global Assessment (IGA) 0/1 at Week 12. RESULTS: A total of 441 Chinese patients were enrolled in this study. Co-primary outcomes were achieved; 300 and 150 mg secukinumab were superior to placebo as shown in the proportion of patients that achieved PASI 75 (97.7% and 87.2% vs. 3.7%, respectively; P < 0.001), and IGA 0/1 (82.3% and 69.7% vs. 2.7%; P < 0.001) at Week 12. Treatment efficacy was maintained until Week 52. There was no increase in overall adverse events with secukinumab relative to placebo throughout the 52-week period. CONCLUSION: Secukinumab is highly effective and well tolerated in Chinese patients with moderate to severe plaque psoriasis. TRIAL REGISTRATION ClinicalTrials.gov, NCT03066609; https://clinicaltrials.gov/ct2/show/record/NCT03066609.
Antibodies, Monoclonal/therapeutic use* ; Antibodies, Monoclonal, Humanized ; China ; Double-Blind Method ; Humans ; Psoriasis/drug therapy* ; Severity of Illness Index ; Treatment Outcome

OBJECTIVE: To investigate the feasibility and clinical significance of high resolution melting(HRM) curve analysis to detect SLC4A1 gene D38A and K56E mutations in the patients with hereditary spherocytosis(HS). METHODS: Peripheral blood was collected from 23 cases of HS for routine tests and their genomic DNA was extracted by routine technique. Specific primers of mutation sites D38A and K56E of SLC4A1 gene were designed. The HRM method was used to analyze all the samples, and then the results of HRM were verified with DNA sequencing technology. RESULTS: Among 23 specimens of HS patients, 6 cases of heterozygous mutant gene were detected by HRM technology, including 3 cases of D38A mutation and 3 cases of K56E mutation, which were confirmed by DNA sequencing. CONCLUSION The HRM technology can correctly detect 2 common mutation sites including D38A and K56E in SLC4A1 gene in an efficient, fast, and reliable way, which not only can be used for clinical diagnosis, but also expected to be a new method for clinical researchers to define gene mutation spectrum in HS patients.
Anion Exchange Protein 1, Erythrocyte ; genetics ; Base Sequence ; DNA Mutational Analysis ; DNA Primers ; Heterozygote ; Humans ; Mutation ; Spherocytosis, Hereditary ; genetics

Hereditary spherocytosis (HS) is a common hereditary hemolytic disease. The molecular pathogenesis of HS involves gene mutations, which lead to deficiency or absence of erythrocyte membrane proteins. Five major pathogenic genes of SPTA1, SPTB, ANK1, SLC4A1 and EPB42 had been found, and they encode α-spectrin, β-spectrin, ankyrin, band 3 and protein 4.2 respectively. There are many reports about gene mutations of EPB42, which cause deficiency or absence of protein 4.2 abroad. However, few scholars study the correlation between HS and protein 4.2 in China. This review describe the advances of the relationship between HS and protein 4.2 in detail.

Food-borne parasitic diseases have become a public health problem for social economy and health care. In this pa-per,the epidemic situation of major food-borne parasitic diseases in Guangxi Zhuang Autonomous Region,such as toxoplasmo-sis and clonorchiasis,are reviewed,and the countermeasures of prevention and control are put forward.

OBJECTIVETo explore the mechanism of erectile dysfunction (ED) with testosterone deficiency and discuss the feasibility of long-term testosterone replacement therapy (TRT) by observing a case of ED with testosterone deficiency treated by TRT for 65 months.

METHODSWe treated an ED patient with testosterone deficiency by TST for 65 months, and evaluated the therapeutic effects by analyzing his IIEF-5 score, dynamic changes in testosterone, PSA, hemoglobin and red blood cell count, and adverse events.

RESULTSThe patient was a 46-year-old man, with an IIEF-5 score of 7, baseline serum total testosterone (TT) of 2.79 ng/ml, and no response to phosphodiesterases-5 inhibitors (PDE5i). He was diagnosed with late-onset hypogonadism (LOH) and treated by TRT: testosterone undecanoate at 80 mg bid po for the first 2 weeks and then at 40 mg bid po. Two months after medication, the TT level was increased to normal (3.45 ng/ml), and physical fitness and anxiety symptoms were markedly improved, with no significant improvement in sexual function. Then we administered PDE5i on demand in addition, which elevated his IIEF-5 score to > 21. The combined medication of TRT and on-demand PDE5i lasted for 45 months followed by TRT alone for another 18 months. The patient was restored to normal penile erection and sexual satisfaction, with the IIEF-5 score remaining at > 21. Regular follow-up revealed no significant abnormalities in the testosterone level, PSA, and routine blood tests.

CONCLUSIONTRT enhances the effect of PDE5i in the treatment of androgen deficiency-induced ED, and long-term TRT is safe and effective for androgen deficiency.

Androgens ; deficiency ; Erectile Dysfunction ; drug therapy ; etiology ; Hormone Replacement Therapy ; Humans ; Male ; Middle Aged ; Testosterone ; analogs & derivatives ; therapeutic use ; Treatment Outcome