The patient, assigned female at birth and aged 1 year and 7 months, presented with clinical manifestations of 46,XY disorders of sex development. The external genitalia exhibited a severely undermasculinized phenotype. Laboratory tests and gonadal biopsy indicated poor Leydig cell function and good Sertoli cell function. Genetic testing revealed compound heterozygous mutations of c.867-2A>C and c.547G>A (p.G183R) in the LHCGR gene. The patient was ultimately diagnosed with type II Leydig cell hypoplasia. Type II Leydig cell hypoplasia presents a broad spectrum of clinical phenotypes, characterized by a lack of parallel function between Leydig cells and Sertoli cells, and significant individual variability in spermatogenesis and gender assignment. This condition should be considered when there is poor Leydig cell function but good development of Wolffian duct derivatives.
Female ; Humans ; Infant ; Disorder of Sex Development, 46,XY/genetics* ; Leydig Cells/pathology* ; Mutation ; Receptors, LH/genetics* ; Testis/abnormalities*

The patient was a boy aged 1 year and 9 months who presented with 46,XY disorder of sex development (DSD), with severe undermasculinization of the external genitalia. Laboratory tests and ultrasound examinations showed normal functions of Leydig cells and Sertoli cells in the testes. Genetic testing revealed a novel pathogenic heterozygous variant, c.1186dupA (p.T396Nfs*17), in the PPP1R12A gene. Thirteen cases of PPP1R12A gene variants have been reported previously. These variants may cause isolated involvement of the genitourinary or neurological systems, or affect other systems/organs including the digestive tract, eyes, heart, etc. Patients with DSD typically present with a 46,XY karyotype and variable degrees of undermasculinization involving the external genitalia, gonads, and reproductive tract. This article reports a child with 46,XY DSD accompanied by growth retardation caused by a heterozygous variant in the PPP1R12A gene, which expands the clinical disease spectrum associated with PPP1R12A gene variants.
Humans ; Male ; Infant ; Disorder of Sex Development, 46,XY/etiology* ; Protein Phosphatase 1/genetics*

OBJECTIVE: To retrospectively analyze the characteristics and influencing factors of COVID-19 infection in patients with multiple myeloma (MM) who underwent autologous hematopoietic stem cell transplantation (AHSCT). METHODS: The clinical data of MM patients who underwent AHSCT in Ruijin Hospital Affiliated to Shanghai Jiao Tong University School of Medicine from May 26, 2021 to December 26, 2022 were collected. The onset of COVID-19 infection, corresponding symptoms and laboratory tests were followed up in outpatient or by the means of telephone contact and online questionnaires. Related analysis was then performed. RESULTS: This study included 96 patients, and 72 cases among them were infected with COVID-19 while 24 cases were uninfected. Logistic regression analysis showed that vaccination did not significantly reduce the risk of COVID-19 infection, but patients who received two doses of the vaccine had a lower risk of developing moderate and severe disease than those who did not receive or received one dose (OR =0.06, P =0.029). Patients who received daratumumab before had a higher risk of COVID-19 infection (OR =5.78, P =0.039), while those with a history of immunomodulatory drugs (IMiDs) had the opposite effect (OR =0.31, P =0.028). The use of both drugs did not affect the severity of COVID-19 infection. CONCLUSION For MM patients undergoing AHSCT as first-line chemotherapy, COVID-19 vaccination does not significantly reduce the infection rate, but it plays a role in preventing moderate and severe cases. The application of antineoplastic drugs with different mechanisms has a certain impact on the susceptibility to the COVID-19, which should be considered comprehensively when creating treatment plans.
Humans ; Multiple Myeloma/complications* ; COVID-19/epidemiology* ; Hematopoietic Stem Cell Transplantation ; Transplantation, Autologous ; Retrospective Studies ; Risk Assessment ; Risk Factors ; Male ; Female ; Middle Aged ; SARS-CoV-2 ; Adult ; Antibodies, Monoclonal

Objective To explore the efficacy of camrelizumab injection combined with transcatheter arterial chemoembolization(TACE)in the treatment of patients with primary liver cancer.Methods Patients with primary liver cancer were retrospectively studied and divided into control group and treatment group according to different treatment regimens.The control group was treated with TACE,while the treatment group was intravenously injected with 200 mg of camrelizumab injection once every 3 weeks on the 3rd day-7th day after first TACE on the basis of treatment in control group.All patients were treated for 12 weeks.The efficacy[objective response rate(ORR),disease control rate(DCR)],liver function[total bilirubin(TBil),glutamic oxalacetic transaminase(GOT),glutamic pyruvic transaminase(GPT)],serum tumor-related markers[alpha fetoprotein(AFP),hepatocyte growth factor(HGF),intercellular adhesion moleclar-1(ICAM-1)],T lymphocyte subsets(CD4+/CD8+ratio)and the safety was evaluated.Results There were 38 cases in treatment group and 42 cases in control group.After treatment,the ORR in treatment group and control group were 65.79％(25 cases/38 cases)and 42.86％(18 cases/42 cases),the DCR were 89.47％(34 cases/38 cases)and 71.43％(30 cases/42 cases),the differences were statistically significant(all P＜0.05).After treatment,serum TBil levels in treatment group and control group were(18.34±5.52)and(21.03±6.32)μmol·L-1;GOT levels were(54.79±17.07)and(60.57±18.29)U·L-1;GPT levels were(47.23±6.15)and(54.48±7.68)U·L-1;serum AFP levels were(96.94±28.17)and(152.49±41.22)ng·mL-1;HGF levels were(75.08±8.26)and(90.17±9.03)ng·mL-1;ICAM-1 levels were(432.38±131.43)and(526.15±184.36)ng·mL-1,respectively;CD4+/CD8+ratios were 1.31±0.23 and 1.16±0.21,respectively(all P＜0.05).Compared with the control group,the above indexes in treatment group were statistically significant(all P＜0.05).The adverse drug reactions in the treatment group were mainly reactive cutaneous capillary hyperplasia,gastrointestinal reaction and hand-foot syndrome,while the adverse drug reactions in the control group were mainly hand-foot syndrome and gastrointestinal reaction.The incidence of reactive cutaneous capillary hyperplasia in test group and control group was 52.63％and 0,the difference was statistically significant(P＜0.05).Conclusion Camrelizumab injection combined with TACE has significant efficacy in the treatment of patients with primary liver cancer.It can effectively reduce the levels of serum AFP,HGF and ICAM-1,and improve the immune function.

Objective To explore the efficacy and safety of recombinant human anti-severe acute respiratory syn-drome coronavirus 2(anti-SARS-CoV-2)monoclonal antibody injection(F61 injection)in the treatment of patients with coronavirus disease 2019(COVID-19)combined with renal damage.Methods Patients with COVID-19 and renal damage who visited the PLA General Hospital from January to February 2023 were selected.Subjects were randomly divided into two groups.Control group was treated with conventional anti-COVID-19 therapy,while trial group was treated with conventional anti-COVID-19 therapy combined with F61 injection.A 15-day follow-up was conducted after drug administration.Clinical symptoms,laboratory tests,electrocardiogram,and chest CT of pa-tients were performed to analyze the efficacy and safety of F61 injection.Results Twelve subjects(7 in trial group and 5 in control group)were included in study.Neither group had any clinical progression or death cases.The ave-rage time for negative conversion of nucleic acid of SARS-CoV-2 in control group and trial group were 3.2 days and 1.57 days(P=0.046),respectively.The scores of COVID-19 related target symptom in the trial group on the 3rd and 5th day after medication were both lower than those of the control group(both P＜0.05).According to the clinical staging and World Health Organization 10-point graded disease progression scale,both groups of subjects improved but didn't show statistical differences(P＞0.05).For safety,trial group didn't present any infusion-re-lated adverse event.Subjects in both groups demonstrated varying degrees of elevated blood glucose,elevated urine glucose,elevated urobilinogen,positive urine casts,and cardiac arrhythmia,but the differences were not statistica-lly significant(all P＞0.05).Conclusion F61 injection has initially demonstrated safety and clinical benefit in trea-ting patients with COVID-19 combined with renal damage.As the domestically produced drug,it has good clinical accessibility and may provide more options for clinical practice.

A portable multi-wavelength spectral detector was developed for on-site,rapid and accurate detection of organic pollutants in surface water using ultraviolet light-emitting diodes(UV-LEDs)and the corresponding spectral detection method was built.By measuring the fluorescence spectrum and absorption light intensity and combining with the multi-wavelength spectral correlation calculation method to analyze the target,the developed detector was able to qualitatively and quantitatively detect organic pollutants that responded in the UV-light range of 260-370 nm.The proposed detector was used to detect polycyclic aromatic hydrocarbons(PAHs)and Rhodamine B.The linear ranges of anthracene and Rhodamine B in absorption mode were 10-100 and 8.5-100 mg/L,respectively.In fluorescence mode,the linear ranges for anthracene and Rhodamine B were 0.006-50 and 0.02-0.781 mg/L,correspondingly.The absorption/fluorescence concurrent mode could extend the detection ranges of anthracene and Rhodamine B to 0.006-100 and 0.02-100 mg/L,respectively.The recoveries of PAHs in surface water ranged from 97.4%to 105.1%for anthracene and 84.5%to 91.2%for anthracene,naphthalene,and pyrene in absorption and fluorescence modes,respectively.The method was accurate in both modes.The mixtures containing PAHs were identified by the proposed method under the optimized multi-wavelength spectral correlation calculation.The results demonstrated that the method could achieve a similarity of 75%or more when identifying two different concentrations of solutions containing a single or a mixture of targets within the linear concentration range of the targets.However,the similarity dropped to less than 25%when identifying two solutions of different substances.The proposed method had excellent recognition abilityof targets.The proposed detector and method combined fluorescence and absorption spectroscopy,which could expand the application of spectroscopy in the in situ rapid identification and detection of pollutants such as PAHs in surface water.

Patients with severe trauma require an extremely timely treatment and transfusion plays an irreplaceable role in the emergency treatment of such patients. An increasing number of evidence-based medicinal evidences and clinical practices suggest that patients with severe traumatic bleeding benefit from early transfusion of low-titer group O whole blood or hemostatic resuscitation with red blood cells, plasma and platelet of a balanced ratio. However, the current domestic mode of blood supply cannot fully meet the requirements of timely and effective blood transfusion for emergency treatment of patients with severe trauma in clinical practice. In order to solve the key problems in blood supply and blood transfusion strategies for emergency treatment of severe trauma, Branch of Clinical Transfusion Medicine of Chinese Medical Association, Group for Trauma Emergency Care and Multiple Injuries of Trauma Branch of Chinese Medical Association, Young Scholar Group of Disaster Medicine Branch of Chinese Medical Association organized domestic experts of blood transfusion medicine and trauma treatment to jointly formulate Chinese expert consensus on blood support mode and blood transfusion strategies for emergency treatment of severe trauma patients ( version 2024). Based on the evidence-based medical evidence and Delphi method of expert consultation and voting, 10 recommendations were put forward from two aspects of blood support mode and transfusion strategies, aiming to provide a reference for transfusion resuscitation in the emergency treatment of severe trauma and further improve the success rate of treatment of patients with severe trauma.

Objective To explore the value of constructing a model to predict the number of positive cores in systematic biopsy in prostate cancer(PCa)using a combination of radiomics features based on magnetic resonance imaging and clinical indicators.Methods Retrospectively collected magnetic resonance imaging and clinical data from two medical institutions(Gansu Provincial Hospital from January 2018 to February 2023,Zhangye People's Hospital Affiliated to Hexi College from April 2020 to February 2023).The 155 patients from Gansu Provincial Hospital were randomly divided into a training set(n=109;80 cases with positive needle count≥6 and 29 cases with positive needle count<6)and an internal validation set(n=46;34 cases with positive needle count≥6 and 12 cases with positive needle count<6)in a 7:3 ratio.The 43 patients from Zhangye People's Hospital Affiliated to Hexi College were used as external validation set.Small field of view high-resolution T2-weighted imaging(sFOV HR-T2WI)and contrast-enhanced delayed-phase images were selected to extract radiomic features from the three-dimensional region of interest of the entire prostate,and radiomics model was constructed and Radscores calculated after dimensionality reduction and feature selection.Univariate and multivariate logistic regressions were used to screen for independent risk factors for positive cores in systematic biopsy.Nomogram was constructed using Radscore and clinical independent risk factors to predict the number of positive cores in systematic biopsy in PCa patients,which was then externally validated.Results Age,alkaline phosphatase(ALP),free prostate specific antigen(FPSA),total prostate specific antigen(TPSA),FPSA/TPSA ratio,and prostate specific antigen density(PSAD)were not statistically significantly different between the training,internal validation,and external validation sets(P>0.05).FPSA,TPSA,FPSA/TPSA ratio,and PSAD were significantly different between the positive cores<6 and positive cores≥6 groups(P<0.001).Univariate logistic regression analysis showed that FPSA(P<0.001),TPSA(P<0.001),FPSA/TPSA ratio(P=0.001),PSAD(P<0.001),and Radscore(P<0.001)were risk factors for positive cores in systematic biopsy in PCa.Multivariate logistic regression analysis showed that PSAD(OR=0.251,95%CI 0.063-0.996,P=0.049)and Radscore(OR=1.990,95%CI 1.409-2.812,P<0.001)were independent risk factors for positive cores in systematic biopsy in PCa.The clinical models achieved AUCs of 0.849(95%CI 0.774-0.924),0.817(95%CI 0.693-0.941),and 0.631(95%CI 0.439-0.822);the 12 features for radiomics models are derived solely from sFOV HR-T2WI,the radiomics models achieved AUCs of 0.868(95%CI 0.791-0.945),0.846(95%CI 0.695-0.996),and 0.815(95%CI 0.660-0.970);the nomogram achieved AUCs of 0.921(95%CI 0.869-0.973),0.868(95%CI 0.743-0.992),and 0.840(95%CI 0.702-0.978)in the training set,internal validation set,and external validation set,respectively.Conclusions The combination of radiomic features extracted from sFOV HR-T2WI and PSAD can preoperatively be used as a noninvasive manner to predict the number of positive cores of the PCa patients.This approach has a certain value in risk stratification of PCa patients and guiding personalized clinical management.

Objective: To summarize the characteristics of patients with newly diagnosed multiple myeloma (NDMM) admitted at Ruijin Hospital affiliated to Shanghai Jiaotong University School of Medicine. We compared the clinical characteristics and prognoses among patients with non-extramedullary disease (EMD), bone-related extramedullary (EM-B) disease, and extraosseous extramedullary (EM-E) disease and further explored the effects of autologous hematopoietic stem cell transplantation (ASCT) for EMD. Methods: From January 2015 to January 2022, data of 114 patients (22%) with EMD out of 515 patients with NDMM were retrospectively analyzed; 91 (18%) and 23 (4%) patients comprised the EM-B and EM-E groups, respectively. The clinical characteristics of patients in all groups were compared with the Chi-square test. Progression-free survival (PFS) and overall survival (OS) of patients were analyzed by the Kaplan-Meier method. Independent prognostic factors were determined using multivariate Cox proportional hazard model. Results: There were no significant differences in age, gender, ISS stage, light chain, creatinine clearance, cytogenetic risk, 17p deletion, ASCT, and induction regimens among the three groups. Overall, 13% of EM-E patients had IgD-type M protein, which was significantly higher than that in EM-B patients (P=0.021). The median PFS of patients in the non-EMD, EM-B, and EM-E groups was 27.4, 23.1, and 14.0 months; the median OS was not reached, 76.8 months, and 25.6 months, respectively. The PFS (vs non-EMD, P=0.004; vs EM-B, P=0.036) and OS (vs non-EMD, P<0.001; vs EM-B, P=0.002) were significantly worse in patients with EM-E, while those were not significantly different between patients with EM-B and those with non-EMD. In the multivariate analysis, EM-E was an independent prognostic factor for OS in patients with NDMM (HR=8.779, P<0.001) and negatively impacted PFS (HR=1.874, P=0.050). In those who did not undergo ASCT, patients with EM-B had significantly worse OS than those with non-EMD (median 76.8 months vs. not reached, P=0.029). However, no significant difference was observed in the PFS and OS of patients with EM-B and those with non-EMD who underwent ASCT. Conclusions: Compared to patients with either non-EMD or EM-B, those with EM-E had the worst prognosis. EM-E was an independent risk factor for OS in patients with NDMM. ASCT can overcome the poor prognosis of EM-B.
Humans ; Multiple Myeloma/therapy* ; Retrospective Studies ; China ; Hematopoietic Stem Cell Transplantation ; Prognosis ; Transplantation, Autologous