To analyze the clinical features and genetic variants of a child with type 4 familial partial lipodystrophy (FPLD4) and the initial manifestation of diabetes.The male patient with the age of 13 years and 5 months, and the diabetes course was about 3 years, the patient was admitted to Children′s Hospital of Soochow University on November 10, 2021(4 th hospitalization at the hospital), in the course of diabetes, the children repeatedly suffered from diabetes ketoacidosis, and lipid metabolism complications gradually emerged.The gene sequencing showed that the proband and his mother carried dual gene mutations of PLIN1 c. 1325delG(p.G442Afs*99) and SPINK1 c. 194+ 2T>C(p.? ). The PLIN1 gene was the causal gene of FPLD4.The mutations of c. 1325delG in the PLIN1 gene had not been previously reported.Based on the clinical phenotype, family history and genetic testing findings, the patient was diagnosed as FPLD4.In addition, the mutation of SPINK1 c. 194+ 2T>C(p.? ) might increase the risk of chronic pancreatitis.This case report enriched the clinical characteristics and genotype data of FPLD4.Gene sequencing assisted the accurate diagnosis of the type of diabetes.The effects of dual gene mutations on disease progression should be concerned, which were of great significance to develop treatment regimen and disease management.

Compared with routine imaging examination, magnetic resonance vascular wall imaging (MR-VWI) has the advantages of non-invasive and accurate in the diagnosis and differentiation of moyamoya disease and atherosclerotic moyamoya syndrome, and is of great significance in guiding clinical treatment and predicting outcomes. This article reviews the features of MR-VWI in moyamoya disease and atherosclerotic moyamoya syndrome.

Objective:To investigate the value of serum insulin-like growth factor-1 (IGF-1), dehydroepiandrosterone sulphate (DHEAS), anti-Müllerian hormone (AMH) and bone morphogenetic protein 6 (BMP-6) in prediction of rapidly progressive puberty(RPP) in girls.Methods:The data of 750 girls who visited the Department of Endocrinology, Metabolism and Genetic Disorders, Children′s Hospital of Soochow University from August 2017 to October 2018 because of breast development were retrospectively analyzed.After following up these girls for 6 months to 1 year, those who were lost to follow up, received early treatment and failed to meet the inclusion criteria were excluded.The remaining 138 girls were divided into the central precocious puberty group (CPP, 32 cases), the early puberty with RPP group (EP-RPP, 33 cases), the early puberty with slow progression puberty group (EP-SPP, 32 cases) and RPP group (41 cases) according to the inclusion criteria.The healthy control group consisted of 33 undeveloped girls aged 8 to 9 who underwent physical examination in the same hospital over the same period.The serum concentrations of IGF-1, DHEAS, AMH and BMP-6 were measured.The general information, clinical manifestations, laboratory examination results and radiological features were compared among different groups.Statistical analysis was performed by using SPSS 22.0, and the receiver operating characteristic curve (ROC) was drawn to investigate the value of IGF-1, DHEAS, AMH and BMP-6 in prediction of RPP.Results:(1)The serum follicle stimulating hormone(FSH) peak value was 15.10(13.86-19.80) IU/L in the EP-SPP group, 11.99(9.18-16.16) IU/L in the EP-RPP group and 11.43(9.37-15.63) IU/L in the RPP group.The ratio of serum FSH/luteinizing hormone(LH) peak values was 3.20(2.44-4.58) in the EP-SPP group, 1.86(1.05-3.16) in the EP-RPP group and 0.76(0.49-0.99) in the RPP group.The serum FSH peak value and the ratio of serum FSH/LH peak values in the EP-SPP group were significant higher than those in the EP-RPP group(all P<0.05). There was no significant difference in the serum FSH peak value between the EP-RPP group and the RPP group( P>0.05). (2)The serum IGF-1 levels of the healthy control group, EP-SPP group, EP-RPP group, CPP group and RPP group were 166.00(126.50-188.00) μg/L, 199.00(170.50-262.50) μg/L, 252.00(233.00-291.50) μg/L, 288.00(252.00-376.00) μg/L and 382.00(264.0-499.50) μg/L, respectively.The serum IGF-1 levels of the EP-SPP group, EP-RPP group, CPP group and RPP group were all significantly higher than those in the healthy control group (all P<0.05). The serum IGF-1 levels in the EP-RPP group were higher than those in the EP-SPP group( P<0.01). As the puberty rapidly progressed, the serum IGF-1 levels gradually increased.The RPP group had the highest IGF-1 levels, and the difference in IGF-1 levels between the RPP group and EP-RPP group was statistically significant( P<0.01). (3)The serum DHEAS levels were 41.65(14.80-59.88) μg/L in the healthy control group, 42.50(30.15-79.83) μg/L in the EP-SPP group, 52.32(43.08-98.54) μg/L in the CPP group, 63.30(34.00-81.55) μg/L in the EP-RPP group and 70.89(51.85-100.02) μg/L in the RPP group.The DHEAS levels of the healthy control group, EP-RPP group and RPP group gradually increased.The RPP group had the highest DHEAS levels.There was significant difference in DHEAS levels among the healthy control group, EP-RPP group and RPP group ( P<0.05). There was no significant difference in DHEAS levels among the EP-SPP group, CPP group and EP-RPP group( P>0.05). (4)The serum AMH and BMP-6 levels in the EP-RPP group, EP-SPP group, RPP group, CPP group and healthy control group were not significantly different( P>0.05). (5)The area under the ROC curve of serum IGF-1 levels was 0.765, the cut-off value was 232.5 μg/L, the specificity for the cut-off value was 83.30%, and the sensitivity was 75.00%.The combined area under the ROC curve of the serum FSH peak value and the ratio of serum FSH/LH peak values was 0.795. Conclusions:Serum IGF-1 levels and the combination of the serum FSH peak value and the ratio of serum FSH/LH peak values can be used as effective indicators of slowly and rapidly progressive puberty in early adolescent girls.Serum DHEAS cannot be used as an early warning index of RPP, but it plays a critical role in the regulation of puberty initiation and process.Serum DHEAS levels may be related to the Tanner stage.

Objective: To investigate the proteomic characteristics of overweight/obesity and related abnormal glucose and lipid metabolism caused by phlegm-dampness retention to identify related biomarkers. Methods: Seventy-one subjects were enrolled in the study. We assessed blood glucose, blood lipids, body mass index (BMI), and phlegm-dampness pattern, which was confirmed by a traditional Chinese med-icine clinician. Of the participants, we included healthy participants with normal weight (NW, n =23), overweight/obese participants with normal metabolism (ONM, n = 19), overweight/obese participants with pre-diabetes (OPD, n = 12), and overweight/obese participants with marginally-elevated blood lipids (OML, n = 17). Among them, the ONM, OPD, and OML groups were diagnosed with phlegm-dampness pattern. The data-independent acquisition (DIA) method was first used to analyze the plasma protein expression of each group, and the relevant differential proteins of each group were screened. The co-expressed proteins were evaluated by Venn analysis. The pathway analyses of the differential proteins were analyzed using Ingenuity Pathway Analysis (IPA) software. Parallel reaction monitoring (PRM) was used to verify the differential and common proteins in each group. Results: After comparing ONM, OPD, and OML groups with NW group, we identified the differentially expressed proteins (DEPs). Next, we determined the DEPs among OPD, OML, and ONM groups. Using Venn analysis of the DEPs in each group, 24 co-expressed proteins were screened. Two co-expressed proteins were verified by PRM. IPA analysis showed that pathways including LXR/RXR activation, acute phase response signaling, and FXR/RXR activation were common to all three groups of phlegm-damp overweight/obesity participants. However, the activation or inhibition of these pathways was different among the three groups. Conclusion: Participants with overweight/obesity have similar proteomic characteristics, though each type shows specific proteomic characteristics. Two co-expressed proteins, VTN and ORM1, are potential biomarkers for glucose and lipid metabolism diseases with overweight/obesity caused by phlegm-dampness retention.

Objective:To analyze the clinical characteristics of patients with different types of coronavirus disease 2019 (COVID-19).Methods:A total of 272 eligible COVID-19 patients who were admitted to Guangzhou Eighth People′s Hospital, Guangzhou Medical University from January 22 to February 15, 2020 were retrospectively enrolled. General characteristics, the first laboratory examination and imaging data of these patients were collected. According to the clinical classification, there were 236 cases in non-severe group (mild+ common type) and 36 cases in severe group (severe+ critical type). Comparisons between groups were performed by t test, chi-square test or rank-sum test when appropriate. Results:There were 23 males and 13 females in the severe group, 103 males and 133 females in the non-severe group, and the difference was statistically significant ( χ2=5.149, P=0.023). The age of severe group was (60.5±11.2) years, which was higher than that of non-severe group (46.8±15.7) years. The difference was statistically significant ( t=6.43, P<0.01). The lymphocyte (LYM) count, platelet (PLT) count and arterial partial pressure of oxygen (PaO 2) in the severe group were 0.90(0.55, 1.10)×10 9/L, 170.00(143.50, 198.00)×10 9/L and 73.50(69.70, 83.00) mmHg(1 mmHg=0.133 kPa), respectively, which were all lower than those in the non-severe group (1.42(1.09, 1.95)×10 9/L, 187.00(148.00, 230.00)×10 9/L and 96.00(83.20, 108.00) mmHg, respectively). The differences were all statistically significant ( Z=5.59, 2.00 and 5.00, respectively, all P<0.05). The levels of creatine kinase (CK), aspartate aminotransferase (AST), lactate dehydrogenase (LDH), C reaction protein (CRP) and procalcitonin (PCT) in the severe group were 123.00(79.00, 212.00) U/L, 32.10(27.00, 47.40) U/L, 305.50(216.00, 396.00) U/L, 37.02(23.92, 63.66) mg/L and 0.09(0.05, 0.19) μg/L, respectively, which were all higher than those in the non-severe group (68.00(48.00, 103.00) U/L, 20.10(16.70, 26.20) U/L, 179.00(150.00, 222.00) U/L, 26.55(18.11, 36.96) mg/L and 0.04(0.03, 0.06) μg/L respectively), and the differences were all statistically significant ( Z=3.89, 5.60, 5.12, 2.85 and 5.43, respectively, all P<0.01). No significant differences were observed in white blood cell count, creatine kinase isoenzyme and blood lactate between the two groups ( Z=1.53, 0.41 and 1.00, respectively, all P>0.05). Conclusion:Gender, age, LYM count, PLT count, PaO 2, CK, AST, LDH, CRP and PCT could be used to provide reference for clinical classification of COVID-19 patients.

Objective To explore the value of short from health survey-36 (SF-36) in evaluating quality of life and pain care in patients with cervicogenic headache treated by coblation.Methods Thirty patients with cervicogenic headache accepted coblation treatment in our hospital from February 2017 to August 2018 were chosen in this retrospective analysis. The changes of visual analogue scale (VAS) scores, self-rating anxiety scale (SAS) scores and SF-36 scores (quality of life) before and after treatment were analyzed, and the correlations of these scale scores were determined by Pearson correlation analysis .Results After the 10 weeks of follow-up, the VAS scores of these 30 patients decreased from 7.70±0.88 to 3.30±1.12, SAS scores decreased from 62.47±4.59 to 49.20±6.48, and SF-36 scores increased from 38.50±4.15 to 78.64±6.39, with significant differences (P<0.05). VAS scores were positively correlated with SAS scores (r=0.720,P=0.012), but negatively correlated with SF-36 scores (r=-0.850,P=0.001); SAS scores were negatively correlated with SF-36 scores (r=-0.940,P=0.000). Conclusion SF-36 can be used as a reference for pain nursing intervention in patients with cervicogenic headache after coblation.

Objective To explore the expressions of growth factor receptor binding protein 2 -associated bin-ding protein -1 (Gab -1 )and glioma -associated oncogene homologue -1 (Gli -1 )in pediatric medulloblastoma,and to analyze their correlation between clinical and pathological characteristics and prognosis in pediatric medulloblastoma. Methods Elivision immunohistochemistry was used to detect the expressions of Gab -1 and Gli -1 protein in tissue microarray of 40 paraffin embedded pediatric medulloblastoma specimens.Chi -square test or Fisher exact test was used to analyze the correlation between Gab -1 and Gli -1 protein expressions with gender,age,tumor location and pathological subtypes.Follow -up data were handled by using Kaplan -Meier survival analysis and Cox regression anal-ysis.Results Positive expression ratios of Gab -1 and Gli -1 protein in 40 pediatric medulloblastoma were 35.0%and 55.0%,respectively.The positive expression rate of Gab -1 in medulloblastoma tissues had no statistical signifi-cance between different genders[male:30.4%(7 /23 cases)vs.female:41 .2%(7 /17 cases)],age[<3 years old:40.0%(6 /15 cases)vs.≥3 years old:32.0%(8 /25 cases)],tumor location[cerebellum:25.0%(5 /20 cases)vs. the fourth ventricle:45.0%(9 /20 cases)]and pathological subtype[classical type:40.7%(11 /27 cases)vs.desmo-plastic /nodular type:50.0%(5 /10 cases)vs.anaplastic /large cell type:66.7%(2 /3 cases)](χ2 =0.496,0.264, 1 .758,3.289,all P >0.05).There were statistical differences of positive expression rate of Gli -1 protein in different age groups[<3 years old:80.0%(12 /15 cases)vs.≥3 years old 40.0%(10 /25 cases)],different pathological sub-types[classical type:40.7%(11 /27 cases)vs.desmoplastic /nodular type:90.0%(9 /10 cases)vs.anaplastic /large cell type:66.7%(2 /3 cases)](χ2 =6.061 ,7.333,all P <0.05 ).There was no statistical difference in positive expression rate of Gli -1 protein between different gender[male:60.9%(14 /23 cases)vs.female:47.1 %(8 /17 cases)]and different tumor location [cerebellum:55.0% (11 /20 cases)vs.the fourth ventricle:55.0% (11 /20 cases)](χ2 =0.753,0.000,all P >0.05).Kaplan -Meier survival analysis showed that the age,the expressions of Gab -1 and Gli -1 protein were correlated with prognosis of pediatric medulloblastoma(all P <0.05).Cox regression indicated that the age,pathological subtypes and the expression of Gli -1 protein were independent prognostic indicators in pediatric medulloblastoma(all P <0.05).Conclusion Expression of Gab -1 and Gli -1 protein is significantly correlated with the prognosis of medulloblastoma,and the positive expression is a marker of unfavorable prognosis.

Objective To investigate therapeutic effect of the low dose clomiphene treatment of idiopathic oligoasthenospermia and effect on sperm epididymal protein level 4.Methods183 cases of idiopathic oligoasthenospermia were divided into three groups, vitamin group of 61 patients were given vitamin E,clomiphene group(61 cases)treated with low dose clomiphene, combined group of 61 patients were given low dose clomiphene and vitamin E, lasted for 12 weeks.Semen volume, sperm density, sperm motility, sperm survival rate and sperm reactive oxygen species (ROS), malondialdehyde (MDA), superoxide dismutase (SOD), human epididymis protein 4 (HE4), follicle stimulating hormone, luteinizing hormone, testosterone concentration were observed before and after treatment.After treatment, the patients were followed up for 1 year, the observation of the natural pregnancy rate after treatment.ResultsSperm density, sperm survival rate and sperm and a A+B grade sperm in the clomiphene group were significantly higher comparedwith the vitamin group (P< 0.05), sperm density, sperm survival rate and sperm and a A+B grade sperm in the combined group were significantly increasedcompared with clomiphene group and vitamin group (P< 0.05),levels of HE4 after treatment was significantly lower compared with before treatment (P< 0.05), And the difference between the three groups were statistically significant (P< 0.05).Follicle stimulating hormone, luteinizing hormone, testosterone in clomiphene group and combined group after treatment, were significantly increased compared with before treatment (P< 0.05), and the combined group had no statistically difference compared with clomiphene group.The pregnancy rate in 1 year of vitamin group, clomiphene group and combined group were 24.59%, 42.62% and 62.29% (P< 0.05).ConclusionClomiphene treatment of idiopathic asthenospermia is better than vitamin E, the combination of the two has a synergistic effect.

Objective To assess the efficacy and safety of mifepristone combined with oral or vaginal misoprostol for termination of pregnancy between 8 and 16 weeks of gestation. Methods This was a randomized, multi-center, open clinical trial. A total of 625 women at 8-16 weeks of gestation were randomized to receive 200 mg oral mifepristone followed by either oral misoprostol 400 μg every 3 hours or vaginal misoprostol 400μg every 6 hours for a maximum of 4 doses 36-48 hours later. There were 417 women in oral group with 198 at 8-9 weeks and 219 at 10-16 weeks, while 208 women in vaginal group with 99 at 8-9 weeks and 109 at 10-16 weeks. The outcome measures were the success abortion rate, induction to abortion interval, the amount of bleeding, reoccurrence of menstruation and adverse events. Results Abortion rate was significantly higher in vaginal group [98.1% (202/206)] than that in oral group [94.0%(390/415), P=0.023]; concerning termination of pregnancy at 8-9 weeks and 10-16 weeks respectively, there were no significant differences between oral and vaginal groups (P=0.156, P=0.073). The induction to abortion interval was no significant difference in oral and vaginal group in different gestational weeks ( P=0.238, P=0.273). The average induction to abortion interval was (4.1 ± 6.6) hours and (6.0 ± 4.5) hours respectively in terminating 8-9 weeks and 10-16 weeks of gestation. Concerning the amount of bleeding within 2 hours of placenta expulsion, there was significant difference between oral group [(63±46) ml] and vaginal group [(55 ± 45) ml] in terminating 8-9 weeks of gestation (P=0.047), while there was no significant difference between groups in terminating 10-16 weeks of gestation [oral group (76 ± 52) ml versus vaginal group (76 ± 61) ml, P=0.507]. The reoccurrence of menstruation was about 37 days in both oral and vaginal groups. Two cases of incomplete abortion were serious adverse events (SAE) relating to treatment. The common adverse events (AE) of nausea and vomiting were significantly higher in oral group [57.2% (239/417), 36.3% (151/417)] than those in vaginal group [45.4% (94/208), 26.1% (54/208); P=0.005, 0.011]. Conclusion Oral or vaginal misoprostol combined with mifepristone, is effective and safe for termination of pregnancy between 8 and 16 weeks of gestation.

OBJECTIVETo investigate the correlation between CMV reactivation and obliterative bronchiolitis (BO) after allogeneic hematopoietic stem cell transplantation (allo-HSCT).

METHODSFrom January 2011 to December 2013, 769 patients underwent allo-HSCT. The CMV infection was diagnosed by fluorescence quantitative PCR method for detecting the level of CMV-DNA and immunofluorescence staining of PP65 antigen in white blood cell. The frequency of BO in patients with and without CMV infection was compared, and the correlation between CMV infection and BO was analyzed. The clinical data of CMV infection patients with and without BO were analyzed and compared.

RESULTSOf 259 diagnosed CMV infection patients, BO occurred in 32 cases, the incidence rate was 12.35%, while in 510 cases without CMV infection, BO occurred in 8 cases, the incidence was 1.56%. The incidence rate of BO is significantly higher in patients with CMV infection than that in patients without CMV infection (P<0.001). The CMV related clinical data between the 32 cases with BO and 227 cases without BO were analyzed among the 259 cases of diagnosed CMV infection patients. BO incidence is higher in patients with more than 10⁵ copies/ml CMV-DNA than that in patients with less than 10² copies/ml CMV-DNA.

CONCLUSIONAmong the risk factors related to BO post allo-HSCT, CMV infection is one of them to be worthy of attention. CMV reactivation with high virus titer, multiple CMV reactivations and CMV pneumonia are the risk factors.

Allografts ; Bronchiolitis ; Bronchiolitis Obliterans ; Cytomegalovirus ; Cytomegalovirus Infections ; Hematopoietic Stem Cell Transplantation ; Humans ; Real-Time Polymerase Chain Reaction ; Risk Factors ; Viral Load ; Virus Activation