Your browser doesn't support javascript.
loading
Mostrar: 20 | 50 | 100
Resultados 1 - 12 de 12
Filtrar
Mais filtros










Base de dados
Tipo de estudo
Intervalo de ano de publicação
1.
Ann Transl Med ; 9(7): 604, 2021 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-33987302

RESUMO

Background: Vaginal laxity may result from trauma to the pelvic floor muscle, which may affect patients' sensation and quality of life. Vaginal rejuvenation, including surgical or nonsurgical interventions, aims to improve laxity. In this study, we aimed to establish a strategy for vaginal rejuvenation by comparing surgical and nonsurgical methods. Methods: A retrospective clinical study was performed on patients who complained about vaginal laxity from 2017 to 2019. The degree of vaginal laxity severity was evaluated by vaginal examination in each patient. The patients were categorized as having a light, moderate or severe degree of vaginal laxity, and different correction methods were chosen accordingly. The Female Sexual Function Index (FSFI) questionnaire was administered to the patients preoperatively and at three months and one year after treatment. Results: Seventeen patients with severe-degree vaginal laxity were treated with vaginoplasty. The total FSFI score was 23.21±2.57 before the operation and significantly increased to 29.36±1.84 (P<0.01) at one year after surgery. Eleven patients with moderate-degree vaginal laxity were treated with vaginoplasty and had a significant improvement in the total FSFI score at one year after surgery (29.86±1.74, P<0.01) compared with the FSFI score before surgery (23.41±2.84). Three patients with moderate-degree vaginal laxity were treated with a CO2 laser and tended to have increased FSFI scores but did not show significant improvement after the operation. CO2 laser treatment was performed on 16 patients with light-degree vaginal laxity. The total FSFI score improved from 23.76±2.35 to 26.16±2.58 at one year (P<0.05). Conclusions: The strategy for vaginal rejuvenation should be selected based on the degree of vaginal laxity severity. Surgical treatment is suitable for severe- and moderate-degree vaginal laxity while nonsurgical treatment is suitable for light-degree vaginal laxity.

2.
Asian J Androl ; 21(6): 577-581, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-31031332

RESUMO

In this study, we investigated the genetics, clinical features, and therapeutic approach of 14 patients with 5α-reductase deficiency in China. Genotyping analysis was performed by direct sequencing of PCR products of the steroid 5α-reductase type 2 gene (SRD5A2). The 5α-reductase activities of three novel mutations were investigated by mutagenesis and an in vitro transfection assay. Most patients presented with a microphallus, variable degrees of hypospadias, and cryptorchidism. Eight of 14 patients (57.1%) were initially reared as females and changed their social gender from female to male after puberty. Nine mutations were identified in the 14 patients. p.G203S, p.Q6X, and p.R227Q were the most prevalent mutations. Three mutations (p.K35N, p.H162P, and p.Y136X) have not been reported previously. The nonsense mutation p.Y136X abolished enzymatic activity, whereas p.K35N and p.H162P retained partial enzymatic activity. Topical administration of dihydrotestosterone during infancy or early childhood combined with hypospadia repair surgery had good therapeutic results. In conclusion, we expand the mutation profile of SRD5A2 in the Chinese population. A rational clinical approach to this disorder requires early and accurate diagnosis, especially genetic diagnosis.


Assuntos
3-Oxo-5-alfa-Esteroide 4-Desidrogenase/deficiência , Transtorno 46,XY do Desenvolvimento Sexual/genética , Hipospadia/genética , Proteínas de Membrana/genética , Erros Inatos do Metabolismo de Esteroides/genética , 3-Oxo-5-alfa-Esteroide 4-Desidrogenase/genética , Adolescente , Adulto , Grupo com Ancestrais do Continente Asiático/genética , Criança , Pré-Escolar , China , Hormônio Foliculoestimulante/sangue , Genitália Masculina/anormalidades , Humanos , Hormônio Luteinizante/sangue , Masculino , Mutação/genética , Alinhamento de Sequência , Testosterona/sangue , Adulto Jovem
3.
Mol Cell Endocrinol ; 433: 66-74, 2016 09 15.
Artigo em Inglês | MEDLINE | ID: mdl-27256151

RESUMO

BACKGROUND: Aromatase deficiency is a rare autosomal recessive disorder that is caused by an impairment of androgen conversion to estrogens. Affected 46, XX individuals generally present with virilization of external genitalia at birth and mutations in CYP19A1 gene. OBJECTIVE: This study described the clinical features and molecular basis of a Chinese 46, XX girl born with ambiguous genitalia and investigated the functional alteration of two novel mutations of the CYP19A1 gene. METHODS AND RESULTS: Obvious prepartum virilization and remarkably elevated testosterone were observed in the mother, who was initially suspected to have a testosterone-producing ovarian tumor. Clinical phenotypes and hormone profiles of the patient and her mother were investigated. Genotyping analyses of the CYP19A1 gene were performed in the patient and her parents. Functional impairment of the mutations was explored using three-dimensional computer model and mutagenesises in vitro transfection assays. A compound heterozygous mutation of the CYP19A1 gene was revealed in the patient, with a G deletion in nucleotide 264 of exon 3 in one allele and a 23-bp insertion in exon 9 in another allele; both mutations resulted in reading frame-shifts that led to truncated proteins of 87 and 360 amino acids, respectively. Molecular modeling analysis suggested that the two renascent truncated proteins lacked crucial amino acids that were involved in substrate access and catalysis as well as heme-binding region. Functional studies in transfected HEK-293T cells exhibited a nearly complete abolishment of enzyme activity, which may underlie the phenotype and hormone profile. CONCLUSIONS: Two novel CYP19A1 mutations were identified in a Chinese girl born with ambiguous genitalia and severe maternal virilization during pregnancy. Maternal virilization should prompt consideration of aromatase deficiency, preventing unnecessary interventions in pregnancy. This study broadens the spectrum of phenotype and genetic mutations of this rare disorder.


Assuntos
Transtornos 46, XX do Desenvolvimento Sexual/genética , Aromatase/deficiência , Grupo com Ancestrais do Continente Asiático/genética , Ginecomastia/genética , Infertilidade Masculina/genética , Erros Inatos do Metabolismo/genética , Mutação/genética , Alelos , Aminoácidos/genética , Aromatase/genética , Éxons/genética , Feminino , Genótipo , Células HEK293 , Heterozigoto , Humanos , Fenótipo , Testosterona/metabolismo , Virilismo/genética
4.
Gene ; 516(2): 345-50, 2013 Mar 10.
Artigo em Inglês | MEDLINE | ID: mdl-23291414

RESUMO

Mutations of CYP17A1 gene could cause complete or partial, combined or isolated 17α-hydroxylase/17,20-lyase enzyme deficiencies (17OHD). We intended to investigate the CYP17A1 mutation in five unrelated patients and analyze its possible influence on phenotype of an atypical 17OHD patient presented with micropenis, hypertension and intermittent hypokalemia. Steroid hormones were assayed in these patients. A novel missense mutation (c.1169C>G, p. Thr390Arg) located in exon 7 was detected in one of the patients. Homozygous c. 985_987delinsAA, p. Tyr329fs mutation was found in two patients, while compound heterozygous mutations (c. 985_987delinsAA, p. Tyr329fs/c. 932-939 del, p. Val311fs and c. 287G>A, p. Arg96Gln/c. 985_987delinsAA, p. Tyr329fs) were found in two other patients, respectively. Then, steric model analysis of CYP17A1 showed that the novel mutation T390R changed the local structure as well as the electrostatic potential of the nearby beta sheet. Finally, site-directed mutagenesis and in vitro expression were used to analyze the activity of novel mutant CYP17A1. It indicated the T390R mutant retained part of enzyme activity, which was consistent to the clinical features. In conclusion, we identified a novel missense mutation of CYP17A1 gene from a patient with micropenis, hypertension and intermittent hypokalemia, which varied from other four patients. It also expanded our understanding of genotype-phenotype correlation of the disease.


Assuntos
Hiperplasia Suprarrenal Congênita/genética , Grupo com Ancestrais do Continente Asiático/genética , Mutação de Sentido Incorreto , Esteroide 17-alfa-Hidroxilase/genética , Adolescente , Hiperplasia Suprarrenal Congênita/etnologia , Sequência de Aminoácidos , Sequência de Bases , Células Cultivadas , Consanguinidade , Análise Mutacional de DNA , Feminino , Humanos , Masculino , Modelos Moleculares , Dados de Sequência Molecular , Mutação de Sentido Incorreto/fisiologia , Esteroide 17-alfa-Hidroxilase/química , Adulto Jovem
5.
Zhonghua Nan Ke Xue ; 15(8): 693-9, 2009 Aug.
Artigo em Chinês | MEDLINE | ID: mdl-19852268

RESUMO

OBJECTIVE: To investigate the effects of surgery treatment on serious penile lesions and malformation. METHODS: Sixty-two patients, aged from 19 to 63 years old (mean 35 ys), were included in the study. Among them, 4 patients suffered from penis partial defection were respectively treated with restoring defective penis, penis lengthening and urethroplasty; three patients with penis completely missing were treated with penis reconstruction surgery; 22 cases with serious penile curvature were treated with the 16-dot plication technique (Lue's procedure); 15 cases with penile fracture were treated with conservative treatment for 1 case and with patch penis, corpus spongiosum, and deep penile dorsal vein ligation for 14 cases; 5 cases with post-operative complications of 3-pieces of penile prosthesis, including the prosthesis perforating to the urethra, water pump failure, broken connection tube, erection angle < 60 degrees and failure to expansion the corpus cavernosum, were treated by taking out prostheses, urethral repair cracks, replacement of the prostheses, excision of fibrosis scar and re-implantation prostheses respectively. Four cases with penis complete amputation were treated with the penis replantation; three cases of avulsion injury were treated with the replantation and free flap skin; 6 with Paget's disease of penises were treated with the lesion free skin buried in the scrotum and penis. RESULTS: All these patients were followed up for 3 months to 4 years, with the average of 9 months. Among the 4 cases of penis partial defection, 2 patients were satisfied with the penile appearance and sexual function; 1 got some satisfactory and 1 was unsatisfied. Three cases with the loss of the penis completely were satisfied with both the postoperative appearance and urination, and 1 was not satisfied. Twenty-two cases of penile curvature deformities were corrected, and one case was recurrence. Fourteen of the 15 patients with penile fracture were followed, and all got the restoration of sexual function. Among them, 5 cases with post-operative complications, including mild bending, algopareunia, subcutaneous induration, poor hardness and poor sexual pleasure, were not further treated, and another case lost; Five cases with post-operative complications of three-pieces penile prosthesis were treated successfully, and 4 of their spouses were satisfied with their sexual function after operation, only 1 of their spouse not satisfied. Among four cases with complete amputation of penis, two cases of penis were replanted successfully while two necrosis. Three cases with avulsion were treated with skin grafting successfully. All 6 cases with penile Paget's disease were followed for 2 -4 years, and free skin grafts were all survival. One patient died of brain metastases 18 months after operation and five cases were disease-free survival. CONCLUSION: The patients should be treated based on the procedure of andrological and urological surgery, together with microsurgical, flap or skin graft technique. The urologist should design personalized surgical procedure. Most of the patient's penis shape and erectile dysfunction can be reconstructed by our procedures, but some patients can not achieve the desired appearance or function of penis. New approaches of the treatment ought to be developed to restore both of the shape and function for those severe injury of the penis.


Assuntos
Pênis/cirurgia , Procedimentos Cirúrgicos Reconstrutivos/métodos , Procedimentos Cirúrgicos Urológicos Masculinos/métodos , Adulto , Humanos , Masculino , Pessoa de Meia-Idade , Implante Peniano , Prótese de Pênis , Pênis/lesões , Retalhos Cirúrgicos , Adulto Jovem
6.
Hum Mutat ; 30(9): E855-65, 2009 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-19551906

RESUMO

Leydig cell hypoplasia (LCH) is a rare form of male pseudohermaphroditism caused by inactivating mutations in the luteinizing hormone receptor gene (LHCGR). The majority of LHCGR mutations are located in the coding sequence, resulting in impairment of either LH/CG binding or signal transduction. We report a Chinese family with two siblings (46, XY and 46, XX) carrying a missense mutation (c. 455 T>C, p. Ile152Thr) and a splice site mutation (c. 537-3 C>A). Computational analysis of the missense mutation in the three-dimensional structural model predicted it might influence the distribution of hydrogen bonds and intermolecular contacts between the hormone and receptor. Consistent with these findings, in vitro mutant analysis revealed a marked impairment of human chorionic gonadotropin binding and signal transduction. The splice-acceptor mutation (c. 537-3 C>A) resulted in abnormal splicing of LHCGR mRNA, skipping exon 7. This report expands the genotypic spectrum of LHCGR mutations, with relevant implications for the molecular analysis of this gene.


Assuntos
Transtornos do Desenvolvimento Sexual/genética , Mutação de Sentido Incorreto , Sítios de Splice de RNA/genética , Receptores do LH/genética , Grupo com Ancestrais do Continente Asiático , Sequência de Bases , Criança , Família , Feminino , Heterozigoto , Humanos , Modelos Moleculares , Conformação Proteica , RNA Mensageiro/metabolismo , Receptores do LH/metabolismo
7.
Zhonghua Wai Ke Za Zhi ; 45(18): 1257-9, 2007 Sep 15.
Artigo em Chinês | MEDLINE | ID: mdl-18067739

RESUMO

OBJECTIVES: To investigate the reconstruction of skin defect after extended resection of malignant skin tumor in or adjacent to the genitals, and to investigate the recovery of the function of urinary system and sexual intercourse after the operation. METHODS: From February 1998 to August 2006, 17 patients with carcinoma of sweat gland or Paget's disease in or adjacent to the genitals were given standard radical resections including groin lymph node dissections. The deformation of penis were corrected with the split-thickness skin grafts. RESULTS: A large split-thickness skin to cover the wound gave a good result. More than 95% of the skin survived, and the shape and function were perfect. CONCLUSIONS: It is a simple and easy way to repair the skin defect. And the patients have a normal shape and function of genitals. The erectile function and the ability of sexual intercourse is good.


Assuntos
Neoplasias Penianas/cirurgia , Procedimentos Cirúrgicos Reconstrutivos/métodos , Neoplasias Cutâneas/cirurgia , Transplante de Pele/métodos , Adulto , Idoso , Idoso de 80 Anos ou mais , Seguimentos , Humanos , Excisão de Linfonodo , Masculino , Pessoa de Meia-Idade , Doença de Paget Extramamária/cirurgia , Escroto , Retalhos Cirúrgicos , Resultado do Tratamento
8.
Zhonghua Zheng Xing Wai Ke Za Zhi ; 23(6): 519-21, 2007 Nov.
Artigo em Chinês | MEDLINE | ID: mdl-18269031

RESUMO

OBJECTIVE: To study the efficacy of gene therapy with human vascular endothelial growth factor-c (VEGF-C) on obstructive lymphedema. METHODS: Two animal models of lymphedema were created: one in the right hind limb of adult New Zealand white rabbits and the other in SD mouse tail. Each model was randomly divided into two groups to receive intradermal injection of either VEGF-C gene (experimental group), or saline(control group). In rabbit model, the volume change of affected limb was measured. In mouse model, biopsy was performed after 3 weeks treatment to detect the expression of VEGF-C mRNA and proteins. The lymphagenesis was evaluated by immunohistochemical examination with lymphatic endothelium hyaluronan receptor antibody. RESULTS: The volume of the affect rabbit limb decreased by (24.40 +/- 1.08) ml in experimental group, compared with (5.80 +/- 1.92) ml in control group (P = 0.0001). The expression of VEGF-C mRNA and protein increased markedly in experiment group, but not in controls. More lymphatic vessels with large caliber were seen in experiment group (P = 0.0004). CONCLUSIONS: VEGF-C gene therapy may alleviate or treat lymphedema by inducing lyphmangiogenesis.


Assuntos
Terapia Genética , Linfedema/terapia , Fator C de Crescimento do Endotélio Vascular/genética , Animais , Modelos Animais de Doenças , Técnicas de Transferência de Genes , Humanos , RNA Mensageiro/genética , Coelhos , Ratos , Ratos Sprague-Dawley
9.
Zhonghua Zheng Xing Wai Ke Za Zhi ; 22(4): 248-51, 2006 Jul.
Artigo em Chinês | MEDLINE | ID: mdl-17017133

RESUMO

OBJECTIVE: This article reports the design and application of a free reverse preauricular flap for one-stage reconstruction of nasal defects. METHODS: A preauricular flap was designed according to the nasal defect, which was harvested with the reverse superficial temporal vessels as its vascular pedicle. The flap size ranged from 3.0 cm x 2.5 cm to 6 cm x 2 cm without any hair-bearing skin. In flap transferring, its pedicle of the superficial temporal vessels was anastomosed with the facial vessels in the nasolabial fold. RESULTS: The flap survived uneventfully in these three patients. The defects in the distal nose were reconstructed with satisfactory results. The donor site scar was similar to that of face-lift incision. CONCLUSIONS: This is the first report of clinical applications of the free reverse preauricular flap by microsurgical technique. Microsurgical technique allows successful transfer of this flap in a one-stage procedure. Because of its similar color and texture to the facial skin, this flap provides excellent tissues for coverage of the nasal defect. This technique may have even wider applications for other facial cutaneous defects.


Assuntos
Deformidades Adquiridas Nasais/cirurgia , Transplante de Pele , Retalhos Cirúrgicos , Adulto , Orelha Externa/cirurgia , Feminino , Humanos , Masculino , Microcirurgia , Procedimentos Cirúrgicos Reconstrutivos/métodos , Transplante de Pele/métodos , Retalhos Cirúrgicos/irrigação sanguínea , Artérias Temporais/cirurgia , Adulto Jovem
10.
Zhonghua Zheng Xing Wai Ke Za Zhi ; 22(4): 290-1, 2006 Jul.
Artigo em Chinês | MEDLINE | ID: mdl-17017145

RESUMO

OBJECTIVE: To observe treatment effects of primary lower limb lymphedema using ultrasonic assisted liposuction. METHODS: Internal ultrasonic liposculpture system combined postoperative continual elastic stockings or bandages were used for reducing lymphatic burdens of the affected limbs by partly removal of lymphedematous tissues. RESULTS: Edema regression in the affected limbs were obvious at 2 weeks postoperative and kept to stable without recurrence during 1 year follow-up. CONCLUSIONS: Ultrasonic assisted liposuction combined with elastic compression is safe and effective for the treatment of primary limb lymphedema.


Assuntos
Extremidade Inferior , Linfedema/cirurgia , Sucção/métodos , Adolescente , Adulto , Criança , Feminino , Humanos , Lipectomia/instrumentação , Masculino , Pessoa de Meia-Idade , Meias de Compressão , Terapia por Ultrassom , Adulto Jovem
11.
Artigo em Chinês | MEDLINE | ID: mdl-16759013

RESUMO

OBJECTIVE: A reversed superficial temporal artery auricular flap was presented to explore a new method for reconstructing the defects of the distal nose by microsurgical techniques. METHODS: A reversed superficial temporal artery auricular flap had been used on fifteen patients with nasal defects, including thirteen patients with alar defects and two patients with nasal tip defects. The reversed superficial temporal vessels of the flap were anastomosed with the recipient facial vessels. The size of the flap was 2.5 cm x 2. 0 cm - 4.0 cm x 2.5 cm, the length of the vascular pedicle was 5 - 8 cm, average 6.5 cm RESULTS: The flap survived uneventfully in all fifteen patients. RESULTS: demonstrated satisfactory symmetry between the reconstructed ala and the contralateral side as well as an excellent tip projection. The donor-site defect was minimal. CONCLUSIONS: The reversed superficial temporal artery auricular flap offers an adequate length of vascular pedicle of the flap, it delivers a good solution to the problem of the vascular pedicle shortage of the proximal superficial artery auricular flap. This technique may become the top choice in the microvascular auricular transfer.


Assuntos
Deformidades Adquiridas Nasais/cirurgia , Rinoplastia/métodos , Retalhos Cirúrgicos , Transplante de Tecidos , Adulto , Orelha Externa/cirurgia , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Nariz/cirurgia , Retalhos Cirúrgicos/irrigação sanguínea , Artérias Temporais/cirurgia , Adulto Jovem
12.
Zhonghua Zheng Xing Wai Ke Za Zhi ; 21(3): 189-91, 2005 May.
Artigo em Chinês | MEDLINE | ID: mdl-16128101

RESUMO

OBJECTIVE: To investigate the surgical methods of treating severely injured vagina. METHODS: A retrospective study was carried out on the clinical materials and results of 7 patients suffered from severe vaginal injury. RESULTS: Different surgical approaches such as trans-suprapubic, transperineal or both approaches were applied according to the position of the atresia, meanwhile, different surgical methods such as skin graft, free flap transplantation, vaginal mucous flap advancement, direct anastomosis of the two ends, "Z" plasty was used to repair the vagina according to the different defect of the vagina, except for 1 case complicated with vaginorectus fistula, all the other cases were achieved satisfactory results. CONCLUSIONS: The accurate judgment of the severity of the vaginal injury and the understanding of the changed anatomy around the injured vagina was the key points to the success of the surgical treatment of traumatic vaginal atresia.


Assuntos
Ginatresia/cirurgia , Vagina/lesões , Feminino , Ginatresia/etiologia , Humanos , Procedimentos Cirúrgicos Reconstrutivos/métodos , Estudos Retrospectivos , Vagina/cirurgia
SELEÇÃO DE REFERÊNCIAS
DETALHE DA PESQUISA
...