Child ; Consensus ; Drugs, Chinese Herbal ; Humans ; Medicine, Chinese Traditional ; Respiratory System

Objective: To explore the heterogeneity and correlation of clinical phenotypes and genotypes in children with disorders of sex development (DSD). Methods: A retrospective study of 1 235 patients with clinically proposed DSD in 36 pediatric medical institutions across the country from January 2017 to May 2021. After capturing 277 DSD-related candidate genes, second-generation sequencing was performed to analyzed the heterogeneity and correlation combined with clinical phenotypes. Results: Among 1 235 children with clinically proposed DSD, 980 were males and 255 were females of social gender at the time of initial diagnosis with the age ranged from 1 day of age to 17.92 years. A total of 443 children with pathogenic variants were detected through molecular genetic studies, with a positive detection rate of 35.9%. The most common clinical phenotypes were micropenis (455 cases), hypospadias (321 cases), and cryptorchidism (172 cases) and common mutations detected were in SRD5A2 gene (80 cases), AR gene (53 cases) and CYP21A2 gene (44 cases). Among them, the SRD5A2 mutation is the most common in children with simple micropenis and simple hypospadias, while the AMH mutation is the most common in children with simple cryptorchidism. Conclusions: The SRD5A2 mutation is the most common genetic variant in Chinese children with DSD, and micropenis, cryptorchidism, and hypospadias are the most common clinical phenotypes. Molecular diagnosis can provide clues about the biological basis of DSD, and can also guide clinicians to perform specific clinical examinations. Target sequence capture probes and next-generation sequencing technology can provide effective and economical genetic diagnosis for children with DSD.
3-Oxo-5-alpha-Steroid 4-Dehydrogenase/genetics* ; Child ; China/epidemiology* ; Cryptorchidism/genetics* ; Disorders of Sex Development/genetics* ; Female ; Genital Diseases, Male ; Genotype ; Humans ; Hypospadias/genetics* ; Male ; Membrane Proteins/genetics* ; Penis/abnormalities* ; Phenotype ; Retrospective Studies ; Steroid 21-Hydroxylase/genetics*

OBJECTIVE: To investigate the clinical value of oligoclonal bands (OB) in patients with multiple myeloma (MM). METHODS: The laboratory test and clinical data of 624 newly diagnosed MM patients admitted to Blood Diseases Hospital of Chinese Academy of Medical Sciences from January 2013 to December 2019 were retrospectively analyzed, including 30 patients with OB, and the clinical characteristics, treatment effects and survival of OB and non-OB patients were analyzed and compared. RESULTS: OB occurred in 11.8% (22/187) of patients who received autologous stem cell transplantation(ASCT) and only 1.8% (8/437) of patients who did not receive ASCT (P=0.000). The median time to the appearance of oligoclonal bands was 3.2(0.6-10.5) months after transplantation. The M protein types of oligoclonal bands mainly include IgG κ, IgG λ, IgM λ and λ light chains. In the presence of oligoclonal bands, 90% of patients were evaluated as complete remission (CR) and above. There were no statistically significant differences in disease stage, tumor burden, and genetic abnormalities between OB and non-OB patients. Among the all patients, the prognosis of OB patients was significantly better than that of non-OB patients, and OB patients showed deeper disease remission (significantly higher CR rate, MRD negative rate, and longer MRD negative duration). Among patients who underwent ASCT, OB patients showed earlier immune recovery, but the depth of treatment response and survival outcomes were similar between OB and non-OB patients, it was no statistically difference. Although OB patients showed earlier immune reconstitution, this did not translate into better survival, suggesting that the better prognosis of OB patients was mainly related to deeper and durable remission rather than early immune reconstitution. Further analysis in patients who received ASCT and obtained MRD negative indicated that there was no additional survival benefit in patients with OB. CONCLUSION The better prognosis of OB patients may be related to the deeper treatment response, but not to the early immune reconstitution. The appearance of OB is only a sign of deep remission and early immune reconstitution in patients, it cannot be translated into survival benefit of MM patients.
Hematopoietic Stem Cell Transplantation ; Humans ; Immunoglobulin G ; Immunoglobulin M ; Multiple Myeloma ; Oligoclonal Bands ; Retrospective Studies ; Transplantation, Autologous

OBJECTIVE: To evaluate the effects of a 48-week course of adefovir dipivoxil (ADV) plus Chinese medicine (CM) therapy, namely Tiaogan Jianpi Hexue () and Tiaogan Jiedu Huashi () fomulae, in hepatitis B e antigen (HBeAg)-positive Chinese patients. METHODS: A total of 605 HBeAg-positive Chinese CHB patients were screened and 590 eligible participants were randomly assigned to 2 groups in 1:1 ratio including experimental group (EG, received ADV plus CM) and control group (CG, received ADV plus CM-placebo) for 48 weeks. The major study outcomes were the rates of HBeAg and HBV-DNA loss on week 12, 24, 36, 48, respectively. Secondary endpoints including liver functions (enzymes and bilirubin readings) were evaluated every 4 weeks at the beginning of week 24, 36, and 48. Routine blood, urine, and stool analyses in addition to electrocardiogram and abdominal B scan were monitored as safety evaluations. Adverse events (AEs) were documented. RESULTS: The combination therapy demonstrated superior HBeAg loss at 48 weeks, without additional AEs. The full analysis population was 560 and 280 in each group. In the EG, population achieved HBeAg loss on week 12, 24, 36, and 48 were 25 (8.90%), 34 (12.14%), 52 (18.57%), and 83 (29.64%), respectively; the equivalent numbers in the CG were 20 (7.14%), 41 (14.64%), 54 (19.29%), and 50 (17.86%), respectively. There was a statistically significant difference between these group values on week 48 (P<0.01). No additional AEs were found in EG. Subgroup analysis suggested different outcomes among treatment patterns. CONCLUSION Combination of CM and ADV therapy demonstrated superior HBeAg clearance compared with ADV monotherapy. The finding indicates that this combination therapy may provide an improved therapeutic effect and safety profile (ChiCTR-TRC-11001263).
Adenine ; analogs & derivatives ; therapeutic use ; Adult ; Antiviral Agents ; therapeutic use ; Double-Blind Method ; Drug Therapy, Combination ; Drugs, Chinese Herbal ; therapeutic use ; Female ; Hepatitis B e Antigens ; immunology ; Hepatitis B, Chronic ; drug therapy ; immunology ; Humans ; Male ; Medicine, Chinese Traditional ; Organophosphonates ; therapeutic use ; Young Adult

Adolescent ; Child ; Child, Preschool ; Female ; Humans ; Infant ; Logistic Models ; Lung Diseases, Interstitial ; diagnostic imaging ; Male ; Radiography, Thoracic ; methods ; Tomography, X-Ray Computed ; methods

Objective To explore the effect of tracking comprehensive rehabilitation nursing model on patients with stable chronic obstructive pulmonary disease (COPD) in the rural.Methods 92 stable COPD patients were randomly divided into two groups,46 in intervention group and 46 in control group.The intervention group,relying on new rural cooperative medical service station,received tracking comprehensive rehabilitation nursing model including training in respiratory function,exercise,nutrition intervention and psychological care in addition to conventional care,while the control group took only the conventional treatment and self-generated exercise.Lung function,symptoms (times of acute attack and in-patients) and quality of life rated by St George' s Respiratory Questionnaire (SGRQ) were compared between two groups before and after 6 months' intervention.Results There was no significant difference in FVC and FEV1 pre％ between two groups before,but after 6 months' intervention,the FVC and FEV1 pre％ was (1.82 ± 0.14) L and (63.67 ±7.10)％ in the intervention group,obviously better than those in the control group [(1.67 ±0.11)L and (53.29 ± 6.93) ％],and the differences were statistically significant (t =5.54,6.90,respectively ; P ＜0.01).There was no significant difference in the score of SGRO between two groups before,but after 6 months' intervention,the score was (43.6 ±8.7) in the intervention group and (55.4 ±7.0) in the control group,and the difference was statistically significant (t =6.96,P ＜ 0.01).27 patients had no acute attack in the intervention group and 12 in the control group.6 patients were hospitalized due to acute exacerbation in the intervention group and 15 in the control group,and the differences were statistically significant (x2 =9.84,5.36,respectively ; P ＜ 0.05).Conclusions Tracking comprehensive rehabilitation nursing mode can improve the lung function and quality of life of stable COPD patients in the rural.

OBJECTIVETo investigate the pathogens of acute respiratory infection (ARI) in Guangzhou from 2006 to 2009.

METHODSA total of 1554 cases of ARI patients in Second Affiliated Hospital of Guangzhou Medical College from September 2006 to September 2009, were recruited in the survey. The sample of throat and pharyngeal swab were collected from each patient.11 types of virus including influenza A (FluA), influenza B (FluB), adenovirus (ADV), human rhinovirus (HRV), respiratory syncytial virus (RSV), parainfluenza virus type 1, type 2, type 3 (HPIV1, HPIV2, HPIV3), human metapneumovirus (MPV) and human coronavirus (HCoV) type 229E, type OC43 were detected by Fluorescence Quota PCR method. The epidemic feature and clinical characteristic of each virus were then analyzed.

RESULTSVirus were found in 1024 samples in total, accounting for 65.9% (1024/1554). RSV was the most common virus, which was found in 261 samples (16.8%); and followed by HRV as 13.9% (216/1554), FluA as 11.6% (181/1554), MPV as 6.5% (101/1554), FluB as 6.4% (99/1554), HPIV as 4.9% (76/1554), ADV as 3.5% (55/1554) and HCoV as 2.3% (35/1554). HPIV and HCoV shared a similar infection ratio among different age groups. The infection ratio of FluA and FluB was highest among 15-24 years old group, accounting for 16.5% (29/176) and 7.4% (13/176) respectively. MPV, RSV and HRV were the main pathogens caused infection among children under 4 years old, accounting for 9.7% (49/503), 21.7% (109/503) and 18.9% (95/503). The infection ratio of ADV was 6.0% (19/318), which was the most common pathogen among 5-14 years old patients. The incidence rate of HPIV and HRV showed no obvious seasonal features; while the prevalence of FluA, FluB, RSV, ADV, MPV and HCoV changed significantly in different seasons.22.2% (227/1024) ARI patients co-infected other respiratory virus.90.1% (163/181) FluA patients, 88.9% (88/99) FluB patients and 92.7% (51/55) ADV patients had high fever symptoms.

CONCLUSIONRSV was the main pathogen of ARI, and the new-found virus MPV was also another crucial pathogen. Some pathogens' incidence rate were related to the season and patient's age. Co-infections of other respiratory virus were also detected in parts of ARI patients.

Acute Disease ; Adolescent ; Adult ; Aged ; Child ; Child, Preschool ; China ; epidemiology ; Humans ; Infant ; Infant, Newborn ; Metapneumovirus ; isolation & purification ; Middle Aged ; Respiratory Syncytial Viruses ; isolation & purification ; Respiratory Tract Infections ; epidemiology ; virology ; Young Adult

. Conclusions Two multiplex RT-PCR assays show high consistency with common RT-PCR. The multiplex RT-PCR assays were initially established.

OBJECTIVETo find out the status of human metapneumovirus (hMPV) infection in children under 14 years old with acute respiratory tract infections (ARI) in Guangzhou, analyze the epidemiology and clinical characteristics among the hMPV-infected children, and provide some basis for research of hMPV.

METHODSAll 521 throat and pharyngeal swabs were collected among the children with acute respiratory tract infections in outpatient departments and those admitted to the wards from September 2006 to August 2008. Then total nucleic acid was extracted from respiratory specimens. The 213 nucleosides of nucleoprotein gene were detected by RT-PCR and 16 strong positive samples were picked to compare with the sequence of hMPV in GenBank after the sequence of the amplification products were determined. Then applied statistical analysis to the data of the collected patients.

RESULTSAll 521 samples were detected by RT-PCR, and confirmed that N gene was positive in 39 samples with a detection rate of 7.49%, and the peak time was in October and April. The 16 amplification products were compared by using the analysis of gene sequence. The nucleocapsid protein (N) gene similarity to BJ1897 of Beijing was up to 99%, and to AY550156 of Thailand was up to 97%, genotype B was the most common genotype.

CONCLUSIONThere existed hMPV infection in children acute respiratory system diseases in Guangzhou areas, in which the children under the age of 6 years were accounted for the main group, however there was no difference in gender. The main symptoms of the patients with hMPV infection were high fever and cough symptom of catarrh. Co-infections other than respiratory virus with hMPV were detected as 41.03% of positive samples.

Adolescent ; Child ; Child, Preschool ; China ; epidemiology ; Female ; Humans ; Infant ; Male ; Metapneumovirus ; genetics ; isolation & purification ; Molecular Sequence Data ; Nucleocapsid Proteins ; genetics ; RNA, Viral ; genetics ; Respiratory Tract Infections ; epidemiology ; virology

OBJECTIVEThis study examined the changes of serum levels of interleukin (IL)-16, IL-18 and immunoglobulins and the correlation of serum IL-16, IL-18 levels and immunoglobulins in children with asthma and aimed to explore the role of IL-16, IL-18 and immunoglobulins in the pathogenesis of asthma.

METHODSThirty-four children with asthma and 21 age and gender-matched healthy children were enrolled in this study. The levels of IL-16, IL-18 and immunoglobulin E (IgE) were determined using ELISA. Immunoglobulin G (IgG), immunoglobulin M (IgM) and immunoglobulin A (IgA) were detected by immunoturbidimetry.

RESULTSThe levels of IL-16, IL-18 and IgE in patients with asthma at both acute attack and convalescence stages were significantly higher than those in healthy controls. An increased IgG and a decreased IgA levels were found in asthmatic patients at the acute attack stage. There was a positive correlation between the IL-16 and IL-18 levels at both acute attack and convalescence stages of asthma (r=0.70, P < 0.01; r=0.70, P < 0.05). The IL-16 level correlated positively with the IgE level at acute attack stage of asthma (r=0.624, P < 0.01).

CONCLUSIONSIL-16, IL-18 and IgE may be involved in the pathogenesis of asthma. The immunologic imbalance exists in children with asthma at both acute attack and convalescence stages. Anti-allergic therapy should be administered through the acute attack to the convalescence stages of asthma.

Adolescent ; Asthma ; etiology ; immunology ; Child ; Child, Preschool ; Female ; Humans ; Immunoglobulins ; blood ; Interleukin-16 ; blood ; Interleukin-18 ; blood ; Male