Objective To analyze the clinical characteristics of co-infection of Talaromyces marneffei(TM)and non-tuberculous Mycobacterium(NTM)in human immunodeficiency virus(HIV)-negative patients.Methods Clinical data of 8 HIV-negative patients with co-infection of TM and NTM in a hospital from 2019 to 2022 were co-llected.Clinical manifestations,auxiliary examination,treatment and prognosis were retrospectively analyzed.Results Among the 8 patients,5 were females and 3 were males,with an average age of(52.25±12.31)years old.All patients presented TM and NTM disseminated infection.The major involved organs were lung(100％),lymph nodes(87.5％),and skin(75.0％).Clinical symptoms mainly included cough and expectoration(87.5％),fatigue(62.5％),joint and lumbosacral pains(62.5％),fever(50.0％),as well as skin and soft tissue abscess(50.0％),etc.Anti-interferon-γ(INF-γ)autoantibodies were detected in 4 patients and the results were positive.All 8 patients(100％)had pulmonary lesions,with chest CT mainly showing spots,patches,and striped shadows in both lungs.Among them,7 cases(87.5％)had increased and enlarged mediastinal lymph nodes,4 cases(50.0％)had pleural thickening and pleural effusion,2 cases each(25.0％for each)were accompanied by pulmonary mass shadows,bronchial stenosis,as well as increased and enlarged hilar lymph nodes.One case each(12.5％for each)had pulmonary cavity formation,bronchiectasis,and pericardial effusion.Conclusion The co-infection of TM and NTM in non-HIV patients presents disseminated infection,with multiple clinical symptoms.Chest imaging shows a wide variety of pulmonary lesions.It is prone to miss diagnosis in clinic,and the effect is not ideal after treatment for single pathogen infection.

Objective To analyze the clinical characteristics of co-infection of Talaromyces marneffei(TM)and non-tuberculous Mycobacterium(NTM)in human immunodeficiency virus(HIV)-negative patients.Methods Clinical data of 8 HIV-negative patients with co-infection of TM and NTM in a hospital from 2019 to 2022 were co-llected.Clinical manifestations,auxiliary examination,treatment and prognosis were retrospectively analyzed.Results Among the 8 patients,5 were females and 3 were males,with an average age of(52.25±12.31)years old.All patients presented TM and NTM disseminated infection.The major involved organs were lung(100％),lymph nodes(87.5％),and skin(75.0％).Clinical symptoms mainly included cough and expectoration(87.5％),fatigue(62.5％),joint and lumbosacral pains(62.5％),fever(50.0％),as well as skin and soft tissue abscess(50.0％),etc.Anti-interferon-γ(INF-γ)autoantibodies were detected in 4 patients and the results were positive.All 8 patients(100％)had pulmonary lesions,with chest CT mainly showing spots,patches,and striped shadows in both lungs.Among them,7 cases(87.5％)had increased and enlarged mediastinal lymph nodes,4 cases(50.0％)had pleural thickening and pleural effusion,2 cases each(25.0％for each)were accompanied by pulmonary mass shadows,bronchial stenosis,as well as increased and enlarged hilar lymph nodes.One case each(12.5％for each)had pulmonary cavity formation,bronchiectasis,and pericardial effusion.Conclusion The co-infection of TM and NTM in non-HIV patients presents disseminated infection,with multiple clinical symptoms.Chest imaging shows a wide variety of pulmonary lesions.It is prone to miss diagnosis in clinic,and the effect is not ideal after treatment for single pathogen infection.

INTRODUCTIONHereditary spastic paraplegia (HSP) belongs to a large, heterogeneous group of progressive neurodegenerative diseases characterised by progressive lower extremity weakness and spasticity, which is caused by developmental failure or degeneration of motor axons in the corticospinal tract. Classical genetic studies have identified at least 46 genetic loci responsible for HSP.

METHODSA genetic study was conducted on a four-generation Chinese family with autosomal dominant HSP. The SPAST gene was investigated using linkage analysis and direct sequencing. Findings were compared with unaffected family members and 50 normal, unaffected individuals who were matched for geographical ancestry.

RESULTSWe identified a novel 14-bp heterozygous deletion that induced a frameshift mutation in exon 15 of SPAST (SPG4). This mutation is predicted to have functional impact and found to cosegregate with the disease phenotype.

CONCLUSIONOur results have expanded the mutation spectrum of the SPAST gene. These findings could help clinicians provide prenatal diagnosis of affected foetuses in families with a known history of such neurodegenerative diseases.

Adenosine Triphosphatases ; genetics ; Adolescent ; Adult ; Aged ; Child ; Child, Preschool ; China ; Exons ; Family Health ; Female ; Frameshift Mutation ; Gene Deletion ; Genetic Linkage ; Genetic Predisposition to Disease ; Heterozygote ; Humans ; Infant ; Male ; Middle Aged ; Pedigree ; Phenotype ; Sequence Analysis, DNA ; Spastic Paraplegia, Hereditary ; diagnosis ; genetics ; Spastin ; Young Adult

Objective To explore the personality type characteristic of children with cough variant asthma(CVA),so as to supply an individual treatment strategy.Methods With the aid of GONG Yao-xian revised Junior Eysenck Personality Questionnaire (JEPQ) by trained professionals,the personality of 65 cases of CVA children (CVA group) and 100 cases of common cold children (control group) was tested and evaluated.Then based on the dimension value P,E,N,L points of the curriculum,personality of orientation was evaluated.Results There was no significant difference in the P,N,L scores of JEPQ between CVA group and control group [(48.84 ± 10.26) scores vs.(48.15 ± 10.98) scores,(50.31 ± 10.49) scores vs.(49.25 ± 9.08) scores,(47.07 ± 9.31) scores vs.(47.20 ± 10.57) scores](P＞ 0.05).The E score of JEPQ in CVA group was lower than that in control group [(44.15 ± 9.29) scores vs.(50.25 ± 8.63) scores],and there was significant difference (P=0.000).Conclusions The CVA children have introverted character,and there is a tendency to form a personality type of conditional reflex.When medicine is taking,the individual personality type should be taken into consideration during the course of therapy.Appropriate mental hints may be helpful for medical therapy and make it a lot easier.

Objective To explore the clinical use of sieving detection about inhalant allergens and fx5E in the CAP anaphylactogen detection system among the pathogen diagnosis of childhood asthma. Methods Two hundred and fifty cases of childhood asthma all received the sieving detection about allergen inhalant allergens and fx5E in the CAP anaphylactogen detection system which was produced by Sweden Pharmacia Company. The test's results were compared between age, sex, season, hypersensitive history and family hypersensitive history. Results Total positive ratio of CAP allergen was 82.80%, positive ratio of inhalant allergens was 79.20%, positive ratio of fx5E was 32.40%. The positive rate of inhalant allergens increased with age, the positive rate of fx5E decreased with age. The test's results were no significant difference between sex and the family hypersensitive history. The test's results were significant difference between the patient's hypersensitive histories. Conclusions Inhalant allergens are the most important allergen among childhood asthma. Sieving detection about allergen in the CAP anaphylactogen detection system is an important vitro test among childhood asthma.