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A clinical data, laboratory examination, genetic test results, diagnose and treatment of a patient with 46, XY disorders of sexual development (46, XY DSD) from a family of the Asp-Glu-Ala-His-box helicase 37 ( DHX37) gene mutation were retrospectively analyzed.The child was admitted in the Department of Genetics, Endocrinology and Metabolism, Jiangxi Children′s Hospital in June 2021.The DHX37 gene mutation was confirmed as a new pathogenic gene leading to 46, XY DSD in 2019.It is featured as autosomal dominant inheritance with incomplete externality.Its clinical manifestations are abnormal external genitalia, testicular degeneration insufficiency syndrome and gonadal insufficiency.This patient is the first 46, XY DSD case caused by the heterozygous variation of DHX37 gene c. 2020C>T (p.R674W) in China.This study can provide new ideas for diagnosis and treatment of 46, XY DSD children and reliable genetic evidence for family reproduction.
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A clinical data, laboratory examination, genetic test results, diagnose and treatment of a patient with 46, XY disorders of sexual development (46, XY DSD) from a family of the Asp-Glu-Ala-His-box helicase 37 ( DHX37) gene mutation were retrospectively analyzed.The child was admitted in the Department of Genetics, Endocrinology and Metabolism, Jiangxi Children′s Hospital in June 2021.The DHX37 gene mutation was confirmed as a new pathogenic gene leading to 46, XY DSD in 2019.It is featured as autosomal dominant inheritance with incomplete externality.Its clinical manifestations are abnormal external genitalia, testicular degeneration insufficiency syndrome and gonadal insufficiency.This patient is the first 46, XY DSD case caused by the heterozygous variation of DHX37 gene c. 2020C>T (p.R674W) in China.This study can provide new ideas for diagnosis and treatment of 46, XY DSD children and reliable genetic evidence for family reproduction.
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Objective: To summarize and analyze the clinical characteristics and gene mutations of 6 patients with Wiedemann-Steiner syndrome (WDSTS). Methods: To review and analyze the clinical data, including general conditions, clinical manifestations, growth hormone, cranial or pituitary gland magnetic resonance imaging (MRI),gene results and other data, 6 cases with WDSTS admitted to the Department of Endocrinology, Genetics and Metabolism of Jiangxi Provincial Children's Hospital and the Department of Child Care of Pingxiang Maternity and Child Care from April 2017 to February 2021 were recruited. Results: Of the 6 patients, 2 were male and 4 were female. The age of the first visit ranged from 1.0 to 11.2 years. All the 6 children presented with growth retardation and mental retardation and they all had typical facial dysmorphism and hypertrichosis (mainly on the back and limbs). Among them, case 5 had a growth hormone deficiency, and case 2 and 4 had abnormalities revealed by cranial MRI. Variations in KMT2A gene were identified in these 6 patients: c.10900+2T>C,c.10837C>T(p.Gln3613*), c.4332G>A(p.E1444E), c.2508dupC(p.W838Lfs*9), c.11695_11696delinsT(p.T3899Sfs*73), c.9915dupA (p.P3306Tfs*22).Among these variations, c.4332G>A, c.11695_11696delinsT and c.9915dupA were novel mutations. Therefore, the final diagnosis of these patients was WDSTS. Conclusions: Patients presented with short stature and mental retardation, typical facial dysmorphism and hypertrichosis should be considered WDSTS. Whole-exome sequencing plays an important role in disease diagnosis and genetic counseling.
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Child , Child, Preschool , Female , Humans , Infant , Male , Pregnancy , Abnormalities, Multiple , Craniofacial Abnormalities , Growth Disorders/genetics , Histone-Lysine N-Methyltransferase , Hypertrichosis/genetics , Intellectual Disability/genetics , Myeloid-Lymphoid Leukemia Protein , SyndromeABSTRACT
Objective:To investigate the characteristics of gonads, the incidence of gonadal tumors and the detection results of SRY gene and Y chromosome microdeletions in 45, X/46, XY chimeras. Methods:The medical records of 45, X/46, XY karyotype or its variant in Jiangxi Children′s Hospital from January 2013 to December 2019 were analyzed retrospectively and analyze the gonadal phenotype and oleculardetection of 45, X/46, YX karyotype.Results:Among the 30 patients with 45, X/46, XY karyotype or its variant, the age of treatment was under 18 years old, with 11 males and 19 females.Fourteen of the patients had undergone prophylactic gonadectomy.Six male cases of unilateral testis and contralateral striated gonads were detected.Pathological section suggested that the gonadal tissue contained testis and ovary in 3 cases, adrenal gland tissue with translocation in 2 cases, and bilateral striated gonad in 8 cases, and both sexes were female.Pathological section indicated that the gonad tissue contained both epididymis and ovary tissue in 1 case, and gonadoblastoma in 1 case.There were 1 case of ovarian dysplasia with granulomatous hyperplasia and 1 case with proliferative nevus cells (mixed nevus). No follicle was found in all patients with B-ultrasound and pathological sections.Among the 11 male children, 5 cases were positive by SRY gene detection.Seven cases by Y chromosome microdeletion detection displayed that 3 cases had partial Y chromosome deletion and 4 cases had no deletion; 10 cases among 19 cases of social gender female patients were detected by SRY gene detection and 9 cases were positive and 1 case was negative; 7 cases were detected by Y chromosome microdeletion and the results are 2 cases with Y chromosome partial deletion, 4 cases with Y chromosome no deletion and 1 case with Y chromosome whole deletion. Conclusions:Most patients with 45, X/46, XY chimera have abnormal gonadal tissue, which has the risk of gonadal tumor, especially among female patients.Most patients had positive SRY gene and had no or partial deletion of Y chromosome.In view of the increased risk of gonadal tumors in these patients, early prophylactic gonadectomy is recommended.
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@#Objective To observe the effect of comprehensive rehabilitation on the recovery of knee joint function in old patients severe burned in lower extremity. Methods 49 patients severe burned in lower extremity were randomly divided into observation group (n=25) and control group (n=24). The control group accepted routine rehabilitation, while the observation group accepted comprehensive rehabilitation. They were assessed with the range of motion (ROM) of knee flexion/extension, 45 m-walking, stair activity, Functional Independence Measure (FIM) and muscle strength 3 months after rehabilitation. Results The active and passive ROM of knee, stair activity, FIM score and muscle strength improved more in the observation group than in the control group (P<0.05). Conclusion Comprehensive rehabilitation promotes the recovery of knee function of old patients with severe burn in lower extremity.
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Objective To observe the effect of comprehensive rehabilitation on the recovery of knee joint function in old patients severe burned in lower extremity. Methods 49 patients severe burned in lower extremity were randomly divided into observation group (n=25) and control group (n=24). The control group accepted routine rehabilitation, while the observation group accepted comprehensive rehabilitation. They were assessed with the range of motion (ROM) of knee flexion/extension, 45 m-walking, stair activity, Functional Independence Mea-sure (FIM) and muscle strength 3 months after rehabilitation. Results The active and passive ROM of knee, stair activity, FIM score and muscle strength improved more in the observation group than in the control group (P<0.05). Conclusion Comprehensive rehabilitation pro-motes the recovery of knee function of old patients with severe burn in lower extremity.
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<p><b>OBJECTIVE</b>To evaluate the surgical technique and efficacy of the resection of parapharyngeal space neoplasm via styloid diaphragm approach.</p><p><b>METHODS</b>Thirty-three cases underwent the resection of parapharyngeal space tumors via styloid diaphragm approach from Jan 2005 to Jan 2011 were reviewed. Of the cases, 28 were with benign tumors treated by surgery alone, and 5 were malignant tumors treated by surgery plus postoperative radical radiotherapy.</p><p><b>RESULTS</b>The parapharyngeal neoplasms in all cases were completely resected via styloid diaphragm approach. The postoperative follow-up ranged from 13 months to 7 years (median = 4.6 years). No tumor recurrence was found in 30 cases, but 3 cases experienced tumor recurrence, including 1 chondrosarcoma (3 years after surgery and chemoradiotherapy), 1 chordoma and 1 adenoid cystic carcinoma (5 years after surgery and radiotherapy). Severe postoperative complications were not observed, but 2 cases showed mild mouth askew and fully recovered after 3 months, and 1 case was complicated with hoarseness and cough symptoms that disappeared after heteropathy.</p><p><b>CONCLUSION</b>Resection of parapharyngeal neoplasms via styloid diaphragm approach is an ideal surgical technique, with well-exposed surgical field, less tissue injury, and less postoperative complication.</p>
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Humans , Carcinoma, Adenoid Cystic , General Surgery , Chondrosarcoma , General Surgery , Chordoma , General Surgery , Cough , Diaphragm , Mouth , Neoplasm Recurrence, Local , General Surgery , Otorhinolaryngologic Surgical Procedures , Methods , Pharyngeal Neoplasms , General Surgery , Pharynx , General Surgery , Postoperative PeriodABSTRACT
Objective To explore an anatomical basis for the lateral tarsal artery pedicle flap on front and lateral compartment of leg and the feasibility of repairing skin defects on forepart of feet. Methods The branches, course and anastomosis of the lateral tarsal artery, perforator of peroneal artery up external malleolus, superficial peroneal artery were studied in 20 legs of adult cadavers.The flap was designed on these grounds. 8 cases repaired by lateral tarsal artery pedicle flap on front and lateral compartment of leg, 5 cases of skin defects on dorsum of foots, 3 cases of skin defects on footplates.The area of defect on forepart of foot was 5 cm× 4 cm-cm × 5 cm. The donor sites were resurfaced with skin grafts or sutured directly. The lateral tarsal artery, perforator of peroneal artery up external malleolus, perforator of anterior tibial artery superficial peroneal artery were anastomosed each other, formed single band blood vessel axle on lateral foot, fore external malleolus, front and lateral compartment of leg. The area of flap was 6 cm × 4 cm - 10 cm × 6 cm.Results All of the flaps survived completely. All cases were followed up, followed up 6- 12 months, averaged 8 months. The color, appearance and texture of the flaps were good, without ulcer on the flap. The patients can walk freely. Conclusion The flap on front and lateral compartment of leg should be designed according to the lateral tarsal artery. Blood supply of flap was reliable, little trauma. The flap's vessel pedicle is enough long. It could repair any defect on forepart of foots.
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<p><b>OBJECTIVE</b>To discuss the application of medial planta island flaps pedicled with anterior tibial artery perforator in front of inner malleolus for repairing small wounds around ankle.</p><p><b>METHODS</b>From Jan. 2005 to Jun. 2009, 10 cases with small wounds around ankle were treated with medial planta island flaps pedicled with anterior tibial artery perforator. The flap size ranged from 7.5 cm x 2.8 cm to 13.0 cm x 5.0 cm. The wounds at the donor sites were covered with skin grafts.</p><p><b>RESULTS</b>All the 10 flaps and skin grafts were survived with primary healing. The patients were followed up for 6-12 months with satisfactory cosmetic results. The 2-point discrimination was 4-6 mm when the proximal end of saphenous nerve was not injured, and it was 9-10 mm when the nerve was injured or cut off. The patients could walk with no occurrence of ulcer in flaps or donor site.</p><p><b>CONCLUSIONS</b>The medial planta island flaps pedicled with anterior tibial artery perforator can effectively repair the small wounds around ankle with reliable blood supply.</p>
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Adult , Female , Humans , Male , Middle Aged , Young Adult , Ankle Injuries , General Surgery , Feasibility Studies , Follow-Up Studies , Skin Transplantation , Surgical Flaps , Tibial Arteries , General Surgery , Treatment OutcomeABSTRACT
he donor sites of the intermediate dorsal neurocutaneous flap on the foot. Conclusion The donor sites of the dorsal artery flaps can be repaired by the intermediate dorsal neurocutaneous flaps on the foot.The method is simple, applicable, safety.
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Objective To study the expression of urokinase-type plasminogen activator (uPA) and its relation with expression of receptor (urokinase-type plasminogen activator receptor uPAR) in epithelial ovari- an cancer (OEC) and with the clinic prognosis.Methods Expression of uPA and uPAR protein was detected by Streptavidin-biotin-HRP in 68 cases of epithelial ovarian cancer and compared with that in 10 cases of borderline tumor,10 cases of benign tumor and 10 cases of normal tissue,and correlation between them was analyzed.The different expression groups of uPA was correlated with the prognosis of ovarian epithelial can- cer.The expression of uPA showed a correlation with short survival time (P
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<p><b>OBJECTIVE</b>To investigate the role and significance of FHIT genes depletion, p53 overexpression and HPV16/18 infection in cervical intraepithelial neoplasia (CIN) and cervical carcinoma (CC).</p><p><b>METHODS</b>Tumor samples taken from 52 cases of CIN and 69 cases of CC were processed by immunohistochemistry (SP) to determine the expression of FHIT genes and p53 protein, by in situ hybridization to detect HPV16/18 infection, and were compared with those in 18 cases of normal cervical tissues as control.</p><p><b>RESULTS</b>(1) The FHIT expression was positive in normal cervical tissue with no depletion occurred, and was 30.8% in CIN. It was significantly higher in CIN III and carcinoma groups than that in normal and CIN I/II groups (P < 0.01). The depleted expression of FHIT in infiltrating cervical carcinoma group was 66.7% (46/69), significantly higher than that in normal and CIN groups (P < 0.01). Along with the decreasing of cell differentiation, the negative rate of FHIT raised. (2) The positive expression of p53 in CC group was 56.5% (39/69) and the HPV16/18 was 84.1% (58/69), both higher than that in CIN and normal groups (P < 0.05). (3) In CIN and CC groups, the positive rate of p53 in cases with positive or negative FHIT expression was similar (P > 0.05). (4) There is a negative correlation between FHIT and p53 expression. The rate of HPV16/18 infection in the depleted expression of FHIT group was significantly higher than that in FIHT normal expression group (P < 0.01).</p><p><b>CONCLUSION</b>(1) The FHIT-depletion is related with cervical carcinogenesis. It may be used as a marker to serve mass screening of CIN-high risk subjects and diagnostic indicator for early cervical carcinoma. (2) Depleted expression of FHIT is frequently associated with p53 over-expression in CIN and CC subjects, but there is no direct correlation between them. (3) HPV16/18 infection may probably be the common cause leading to altered FHIT and p53 expression.</p>