OBJECTIVE: To summarize the clinical and genetic characteristics of a child with 46,XX Ovotesticular disorder of sex development (46,XX OTDSD) due to copy number variation of SOX3 gene. METHODS: A 46,XX male patient presented at the Capital Center for Children's Health, Capital Medical University in November 2024 was selected as the study subject. Clinical data of the child was collected. Peripheral blood samples were taken from the child and his parents and subjected to trio whole-genome sequencing. Skewed X-chromosome inactivation was tested in the child and his mother. A literature review was carried out on 46,XX males associated with mutations of the SOX3 gene. This study was approved by the Medical Ethics Committee of the Hospital (Ethics No.: SHERLL2025056). RESULTS: The 10-year-old boy presented with hypospadias and cryptorchidism at birth. Chromosome analysis at one year and a half revealed a 46,XX karyotype. Gonadal biopsy showed testicular tissue, while ultrasound at the age of 10 detected ovotesticular tissue. Whole-genome sequencing identified a 660 kb duplication in the Xq27.1 region, which was derived from his mother. X-chromosome inactivation testing showed random inactivation in the child and mild non-random inactivation in the mother. Literature review has found 11 publications involving 15 patients (including our case), among whom 14 had a male social gender. They had primarily presented with hypospadias at birth but had no significant endocrine abnormalities. Most patients had experienced testicular failure after puberty. SOX3 related 46,XX males are mainly caused by de novo duplications, although a few maternal carriers had been discovered. CONCLUSION Duplication of the SOX3 gene probably underlay the pathogenesis is this 46,XX male. Individuals with 46,XX SRY negative male phenotypes should be routinely screened for SOX3 gene variants. Structural variations of the SOX3 gene can lead to complete or partial sex reversal in 46,XX individuals with minimal impact on intellectual and motor development, as well as other endocrine hormones.
Child ; Humans ; Male ; 46, XX Disorders of Sex Development/genetics* ; DNA Copy Number Variations ; Gene Duplication ; Phenotype ; SOXB1 Transcription Factors/genetics*

The objective of study was to investigate whether U937 cells-loaded dendritic cells (DCs) could induce anti-leukemic immune activity. The apoptosis of U937 cells was induced by artesunate (ART). DCs derived from peripheral blood mononuclear cells of health donors were loaded with apoptotic U937 cells, and induced to maturation in the presence of TNF-alpha. Matured DCs were cocultured with autologous T-lymphocytes, and combined with IL-2 in order to induce the leukemia-specific CTL. The phenotypes of DCs and T lymphocytes were tested by flow cytometry. The ability of DC capturing antigens was measured by Dextran-FITC endocytosis. The IL-12p70 level was assayed by ELISA kit. The proliferation of CTL and CTL activity were measured by MTT assay. The results showed that the apoptotic rate of the U937 cells was 51.2% when U937 cells were induced by 1 microg/ml ART for 48 hours in vitro. DCs had the most powerful ability of endocytosis in its immature phase. Apoptotic U937 cells could not induce the features of DC maturation, and apoptotic U937 cell-pulsed immature DCs could be matured with TNF-alpha. The IL-12p70 level secreded by apoptotic U937 cell-loaded mature DCs (mDC-(Apo)U937) was higher than that of non-loaded mDC. The proliferation of autologous T lymphocytes co-cultured with mDC-(Apo)U937 was significantly remarkable and the content of CD8(+) CTL was significantly higher in comparison with any other groups. CTL induced by mDC-(Apo)U937 had stronger killing effect on U937 cells than NB4 (p < 0.01). It is concluded that the mDC-(Apo)U937 can effectively generate T cell-mediated dendritic antileukemic responses in vitro.
Antigens, Neoplasm ; immunology ; Apoptosis ; Artemisinins ; pharmacology ; Coculture Techniques ; Dendritic Cells ; cytology ; immunology ; Humans ; Leukemia ; immunology ; T-Lymphocytes, Cytotoxic ; immunology ; U937 Cells

This study was purposed to investigate the change of Th cell subsets in the patients with acute graft-versus host disease (aGVHD) and to explore its role in the pathogenesis of aGVHD after allogeneic hematopoietic stem cell transplantation (allo-HSCT). 23 patients underwent allo-HSCT were selected for analysis. The aGVHD in patients was diagnosed according to clinical features, and was confirmed by skin biopsy in some patients. The peripheral blood from 23 patients was collected before and after allo-HSCT. The quantitative chenges of Th1 and Th2 cells in peripheral blood samples were detected by using flow cytometry. The results showed that out of 23 patieats the aGVHD occured in 8 patients including 1 case of grade I, 2 case of grade II, 3 cases of grade III; no aGVHD occured in 15 patients. The flow cytometry analysis revealed that the amount of Th1 cells in patients with aGVHD was much higher than that in patients without aGVHD (p < 0.01), the IFN-gamma expression of Th1 cells in patients with aGVHD of grad II - III significantly was higher than that in patients without aGVHD (p < 0.01), meanwhie the IL-4 expression of Th2 cells in patients with aGVHD of grade II - III was significantly lower than that in patients without aGVHD (p < 0.05). Dynamical detection indicated that the Th1 obviously increased before occurrence of aGVHD and before treatment of aGVHD, while the Th1 cells obviously decreased after treatment of aGVHD. The Th1 cells not changed significantly in patients without aGVHD before and after allo-HSCT. It is concluded that Th1 cells obviously increase in patients with aGVHD, this increase is related to aGVHD pathogenesis. Detecting the changes of Th cell subsets in the early stage after allo-HSCT may be contributed to early diagnosis and therapy of aGVHD.
Graft vs Host Disease ; blood ; immunology ; Hematologic Neoplasms ; immunology ; therapy ; Hematopoietic Stem Cell Transplantation ; adverse effects ; Humans ; Th1 Cells ; immunology ; pathology

OBJECTIVETo evaluate the extensive and degree of physical rehabilitation improvement of the quality of life in laryngectomees.

METHODSForty nine patients who underwent total laryngectomies were trained by esophageal voice rehabilitation successfully. The questionnaires of performance status scale for head and neck cancer patients (PSS-HN) and the functional assessment of head and neck cancer therapy (FACT-H&N) were answered by them before esophageal voice training and 3 months after successful vocal rehabilitation.

RESULTSTotal laryngectomy deteriorated the quality of life in laryngectomees. The mean scores of PSS-HN scale and FACT-H&N questionnaire were lower than the criteria scores after patients underwent total laryngectomy, the mean score were 131. 4,90.6 respectively, the difference was significant statistically (t =53. 673, P <0.001) , (t = 67.44, P <0.001). After successful esophageal speech training, the mean scores of the laryngectomees were improved both in PSS-HN scale and FACT-H&N which were 240.4 and 103.7 respectively, the difference was significant statistically (t = 18.209, P < 0.001) , (t = 21.389, P<0.001).

CONCLUSIONSThe quality of life in laryngectomees can be improved by physical rehabilitation and the esophageal voice training.

Adult ; Aged ; Female ; Humans ; Laryngectomy ; rehabilitation ; Larynx, Artificial ; Male ; Middle Aged ; Quality of Life ; Speech, Esophageal ; Surveys and Questionnaires ; Voice Training

OBJECTIVETo study the clinicopathological, immunohistochemical and electron microscopic characteristics of pediatric rhabdomyosarcomas (RMS).

METHODSOne hundred and forty-five cases of pediatric rhabdomyosarcomas were studied by routine histological, immunohistochemical and electron microscopic studies.

RESULTSThere were 97 male and 48 female patients with ages ranging from 4 months to 13 years and a mean of 4.2 years. The follow-up period of 100 patients was from 1 year to 20 years with a mean of 5 years after diagnosis. All cases were subtyped into the following histological categories: embryonal RMS, botryoid RMS, spindle cell RMS, alveolar RMS and solid RMS. Histopathological subtypes, tumor site and tumor stage correlated significantly with the patients' 5 years survival. The best prognosis was observed in spindle cell and botryoid RMS. Embryonal RMS carried an intermediate prognosis. Patients with alveolar RMS and solid RMS had the worst prognosis. Tumors involving bladder, head and neck carried a favorable clinical outcome. Patients with tumors involving trunk extremities retroperitoneum and pelvis did poorly. Immunohistochemically, all cases were positive for Vimentin. The positive staining rates for desmin, SMA and myoglobin were 78%, 75% and 37%, respectively. All tumors were negative for NSE, CD99 and LCA. Electron microscopy study showed features of myofilament and sarcomere in 10 of 15 cases.

CONCLUSIONSRMS is the most common soft tissue sarcoma of childhood. Immunohistochemistry and electron microscopy are helpful in diagnosis and classification of RMS.

Adolescent ; Child ; Child, Preschool ; Female ; Follow-Up Studies ; Head and Neck Neoplasms ; pathology ; ultrastructure ; Humans ; Immunohistochemistry ; Infant ; Male ; Retrospective Studies ; Rhabdomyosarcoma ; classification ; pathology ; ultrastructure ; Soft Tissue Neoplasms ; classification ; pathology ; ultrastructure ; Urogenital Neoplasms ; metabolism ; pathology ; ultrastructure