mutation leads to different genders of twinning: a case report and literature review.

Background: Loss-of-function variants in protein phosphatase 1 regulatory subunit 12A () can lead to urogenital and/or brain malformation syndrome (UBMS). When UBMS individuals exhibit genital abnormalities, it is combined with disorders of sex development (DSD). To report a variation in a case of 46,XY twins exhibiting different phenotypes of genital development.

[Gene Mutation Characteristics, Prognosis and Survival Analysis of Patients with Acute Myeloid Leukemia].

Objective: To analyze the gene mutation characteristics and survival time of patients with newly diagnosed acute myeloid leukemia (AML) based on next-generation sequencing(NGS) gene detection.

Methods: A retrospective analysis was conducted on the clinical data of 92 patients with AML (non APL) admitted to our hospital from January 2018 to May 2022. AML related genes tested were using NGS, the mutation characteristics and survival time of AML patients were analyzed.

SARS-CoV-2 reactivates fungal-associated Hemophagocytic lymphohistiocytosis: Case report and review of the literature.

Hemophagocytic lymphohistiocytosis (HLH) is a rare disease characterized by the uncontrolled activation of the immune system, resulting in a high clinical mortality rate. A 56-year-old Chinese female presented at the emergency room with symptoms including fever, fatigue, nausea, vomiting, cough, shortness of breath, and chest tightness. Laboratory investigations demonstrated decreased levels of white blood cells, hemoglobin, and platelets while interleukin-6 and ferritin exhibited significant elevations.

Chidamide in combination with azacitidine for an elderly patient with peripheral T cell lymphoma‑not otherwise specified: A case report.

Peripheral T cell lymphoma (PTCL) is a type of aggressive non-Hodgkin's lymphoma with poor prognosis. PTCL-not otherwise specified (PTCL-NOS) is one of its most common pathological types. PTCL is not sensitive to conventional chemotherapy regimens and treatment is particularly limited in elderly patients due to their poor tolerance to chemotherapy.

[Characteristics of genetic variants in 134 patients with Acute myeloid leukemia].

Objective: To analyze the characteristics of genetic variants in 134 patients diagnosed with Acute myeloid leukemia (AML).

Methods: Clinical data of the 134 patients with AML (non-acute promyelocytic leukemia) initially diagnosed at the 940th Hospital of the Joint Logistics Support Force of the Chinese People's Liberation Army from June 2017 to June 2022 were retrospectively analyzed. Potential variants of AML-related genes were detected by next-generation sequencing, and the frequency of variants was analyzed by using SPSS v26.

Two Novel Heterozygous Variants in RecA2 Domain of DHX37 Cause 46,XY Gonadal Dysgenesis and Testicular Regression Syndrome.

Introduction: The pathogenic variants in DEAH-box RNA helicase DHX37 are one of the major causes of 46,XY gonadal dysgenesis and testicular regression syndrome (TRS). To date, only 13 different missense variants have been reported. We report two additional cases with different clinical presentations carrying two novel variants in the DHX37 gene.

A novel corporoplasty technique with a urethral plate flap in hypospadias repair.

Objectives: To report a novel corporoplasty technique with a urethral plate flap in hypospadias repair and evaluate its safety and efficacy for ventral lengthening.

Methods: Data were retrospectively collected from consecutive patients with hypospadias who underwent urethral plate flap corporoplasty between July 2021 and March 2022. All patients underwent hypospadias repair using the Duckett technique.

Case Report: De novo variant in myelin regulatory factor in a Chinese child with 46,XY disorder/difference of sex development, cardiac and urogenital anomalies, and short stature.

The myelin regulatory factor (; MIM# 608329) gene was first identified as a critical transcription factor involved in oligodendrocyte differentiation and central nervous system myelination. With the recent development of exome sequencing, pathogenic variants of had been considered as the cause of cardiac-urogenital syndrome (CUGS), 46,XY and 46,XX disorders/differences of sex development (DSDs), and nanophthalmos. Herein, we described a 4-year-7-month-old "girl" with ventricular septal defect, atrial septal defect, patent ductus arteriosus, severe pulmonary hypertension, moderate-to-severe tricuspid regurgitation, enlarged coronary sinus, left superior vena cava, and right lung hypoplasia at birth.

Mental health status of children with disorders of sexual development and their correlates.

Disorders of sexual development (DSD) refer to the congenital abnormalities of chromosomes, gonads, or gender anatomy. Children with DSD usually experience more stress. The present study aims to evaluate the mental health status of children with DSD, and to explore the potential relevant factors.

Immune thrombocytopenic purpura induced by the COVID-19 vaccine after the second dose in a 78-year-old patient: A case report.

Coronavirus disease 2019 (COVID-19) has become a global pandemic, but treatment options remain limited. Up to now, vaccination has been the main strategy to prevent transmission and reduce disease severity. However, with follow-up observations after massive vaccination, immune thrombocytopenic purpura (ITP) induced by COVID-19 vaccines has attracted the attention of investigators.

Surgical management and molecular diagnosis of persistent Müllerian duct syndrome in Chinese patients.

Persistent Müllerian duct syndrome (PMDS) is a rare clinically and genetically overlapping disorder caused by mutations in the anti-Müllerian hormone (AMH) gene or the anti-Müllerian hormone receptor type 2 (AMHR2) gene. Affected individuals present uterus and tubes in normally virilized males and are discovered unexpectedly during other surgeries. Since it is rare and complex, a definitive clinical diagnosis can be missed, and there are no guidelines regarding how to deal with the uterus.

Novel androgen receptor gene variant containing a frameshift mutation in a patient with complete androgen insensitivity syndrome.

A variety of mutations in the androgen receptor (AR) gene are linked to androgen insensitivity syndrome (AIS). AIS is the most common specific cause of 46, XY disorder in sex development. Here, we reported a patient which presented as a female with 46, XY karyotype and normal female external genitalia.

[Research Status of New Targets MRD Detection in Acute Myeloid Leukemia Recurrence--Review].

Although most acute myeloid leukemia (AML) patients can achieve complete remission (CR) induced by standardized chemotherapy, but the relapse rate after remission remains high. The key reason is its high heterogeneity in cytogenetics and molecular biology. There are evidences show that minimal residual disease (MRD) is closely associated with disease recurrence, so that, finding specific genetic and molecular biological changes as new targets for MRD detection has become a research hotspot in recent years.

Identification of risk factors associated with numerous reoperations following primary hypospadias repair.

Introduction: Complications remain the top evaluation priority subsequent to hypospadias repair. Complications vary in further management, and usually require one or more reoperations. Patients and/or their parents concern not only with the success rate of reoperation, but also with the risk of numerous reoperations.

MiR-155-5p promotes renal interstitial fibrosis in obstructive nephropathy via inhibiting SIRT1 signaling pathway.

Protection against renal fibrosis is important for the management of obstructive nephropathy. We researched the roles and possible mechanism of miR-155-5p in renal interstitial fibrosis, which may provide a potential endogenous target for renal interstitial fibrosis in obstructive nephropathy. Herein, NRK-49F cells were transfected with miR-155-5p mimic, miR-155-5p inhibitor, SIRT1 plasmid and/or SIRT1 siRNA.

Leukaemia cutis as a specific skin involvement in chronic myelomonocytic leukaemia and review of the literature: Acknowledgments.

The skin involvement of myeloid leukaemia is conventionally divided into specific malignant lesions and non-specific benign lesions, and these categories are also applicable in chronic myelomonocytic leukaemia (CMML). According to the 2016 World Health Organization (WHO) classification of tumours of haematopoietic and lymphoid tissues, CMML is defined as a myeloid neoplasm with characteristics of myelodysplastic syndrome (MDS) and myeloproliferative neoplasms (MPNs). As a specific cutaneous sign of extramedullary infiltration, leukaemia cutis (LC) is a rare occurrence in patients with CMML, and only approximately 89 cases have been reported in the literature thus far.

[Fetal anteroposterior renal pelvic diameter for predicting antenatal hydronephrosis requiring postnatal surgery].

Objective: To assess the value of fetal anteroposterior renal pelvic diameter (APD) in predicting antenatal hydronephrosis requiring surgical treatment after birth.

Methods: A total of 525 cases of antenatal hydronephrosis detected by prenatal ultrasonography (ultrasound index APD ≥ 4 mm in the second trimester and APD ≥ 7 mm in the third trimester) in Zhejiang Prenatal Diagnosis Center from June 2007 to June 2018 were retrospectively analyzed. ROC curve was used to analyze the relationship between these ultrasound indicators and the requirement for surgical treatment after birth.

Overexpression of OsHSP18.0-CI Enhances Resistance to Bacterial Leaf Streak in Rice.

Background: The small heat shock proteins represent a large family of proteins that respond to a wide range of abiotic and biotic stresses. OsHsp18.0-CI confers tolerance to salt and cadmium and interacts with viral RNA-dependent RNA polymerase (RdRp).