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1.
Sex Dev ; 12(1-3): 106-122, 2018.
Artigo em Inglês | MEDLINE | ID: mdl-29131109

RESUMO

Malignant gonadal germ cell tumors, referred to as germ cell cancers (GCC), occur with increased frequency in individuals who have specific types of differences (disorders) of sex development (DSD). Recent population-based studies have identified new environmental and genetic risk factors that have led to a 'genvironment' hypothesis, which may potentially be helpful in risk assessment in DSD-related GCC. In DSD, the malignancy risk is highly heterogeneous, but recent studies allow now to discriminate between high- and low-risk conditions. Gonadal biopsy is in some cases the best procedure of choice to assess the risk, and with the availability of immunohistochemical biomarkers [OCT3/4 (POU5F1), TSPY, SOX9, FOXL2 and KITLG (SCF)], a reliable classification of GCC and its precursors can be made. The opportunities in the field of virtual diagnostic pathology will be presented, having possibilities for rare diseases in general and DSD specifically. It is expected that the International DSD Registry will stimulate international collaborations, facilitating better diagnostic procedures as well as research.


Assuntos
Transtornos do Desenvolvimento Sexual/patologia , Transtornos do Desenvolvimento Sexual/terapia , Gônadas/patologia , Gônadas/embriologia , Humanos , Guias de Prática Clínica como Assunto , Fatores de Risco , Diferenciação Sexual , Telemedicina
2.
Clin Teach ; 13(4): 317-8, 2016 08.
Artigo em Inglês | MEDLINE | ID: mdl-27424546
3.
Gynecol Surg ; 13: 43-48, 2016.
Artigo em Inglês | MEDLINE | ID: mdl-26918003

RESUMO

Hydrosalpinx is a rare cause of abdominal pain in paediatric patients, though cases are documented in the literature. Its aetiology differs considerably from traditional hydrosalpinx due to ascending sexually transmitted infection. Hydrosalpinx can resent mimicking an acute abdomen or can be asymptomatic. Management of paediatric hydrosalpinx varies but often involves surgical removal of the affected tube. A 12-year-old girl presented with left-sided acute abdominal pain setting within 24 h. Initial ultrasound scan suggested presence of hydrosalpinx. Post-discharge follow-up appointment with a consultant paediatric gynaecologist demonstrated no symptomology, but repeated scan by another sonographer showed continued presence of possible hydrosalpinx, which had since grown. Later, MRI was performed to confirm site of the lesion. However, MRI revealed no tubal masses, suggesting spontaneously resolved hydrosalpinx. Consultant-administered ultrasound scan confirm no tubal abnormalities. Our case suggests spontaneous resolution in possible paediatric hydrosalpinx. Our recommendation is for conservative management of asymptomatic paediatric and adolescent hydrosalpinges, with emergency surgery offered if symptoms indicative of tubal or adnexal torsion.

4.
Eur J Obstet Gynecol Reprod Biol ; 195: 40-51, 2015 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-26476798

RESUMO

BACKGROUND: Hydrosalpinx is a rare cause of abdominal pain in paediatric patients, though cases are documented in the literature. Its aetiology differs considerably from traditional hydrosalpinx due to ascending sexually transmitted infection. Hydrosalpinx can present mimicking an acute abdomen or can be asymptomatic. Management of paediatric hydrosalpinx varies, but often involves surgical removal of the affected tube. METHODS: In June 2015, a literature search using relevant keywords was completed on MEDLINE and EMBASE databases to determine best management of paediatric hydrosalpinx. RESULTS: We found 66 cases from 38 articles. Surgical intervention took place in 74% of cases (n=49). The most common surgical intervention was salpingectomy. In 3% of cases (n=2), nonsurgical medical management with hormonal therapy was utilized, with post-operative improvement in symptomology. In 23% of cases (n=15), conservative management was utilized: 2 of these cases torted, 4 cases persisted and 9 cases resolved. CONCLUSION: Overall, the results of this review demonstrate that there are comparable outcomes between surgical, medical and conservative management. However, medical and conservative management was not often offered, and more research is needed on the subject.


Assuntos
Anticoncepcionais Femininos/uso terapêutico , Anticoncepcionais Orais Sequenciais/uso terapêutico , Doenças das Tubas Uterinas/terapia , Acetato de Medroxiprogesterona/uso terapêutico , Salpingectomia , Anormalidade Torcional/terapia , Adolescente , Criança , Gerenciamento Clínico , Doenças das Tubas Uterinas/complicações , Feminino , Humanos , Guias de Prática Clínica como Assunto , Salpingostomia , Anormalidade Torcional/etiologia
5.
Inform Prim Care ; 21(1): 30-9, 2013.
Artigo em Inglês | MEDLINE | ID: mdl-24629654

RESUMO

BACKGROUND: High levels of funding have been invested in health information technologies, especially electronic health records (EHRs), in an effect to coordinate and organize patient health data. However, the effect of EHRs in the exam room on doctor-patient communication has not been sufficiently explored. Objective The purpose of this systematic review was to determine how physician use of EHRs in medical consultations affects doctor-patient communication, both in terms of patient perceptions and actual physician behaviours. METHOD: The reviewer conducted a comprehensive online database search in March 2013 of EMBASE, MEDLINE, and SCOPUS, using a combination of synonyms of the terms "patient", "doctor", "communication", and "EHR" or "computing". For inclusion in this review, articles had to be published in English, take place in an outpatient setting and demonstrate an empirical investigation into whether EHR affects doctor-patient communication. The reviewer then analysed 13 articles that met the inclusion criteria. RESULTS: Studies showed EHR use encouraged biomedical questioning of the patient, and encouraged patient-led questioning and doctor-led information provision. EHR-related behaviours such as keyboarding and screen gaze impaired relationships with patients, by reducing eye contact, rapport, and provision of emotional support. EHRs negatively affected physician-led patient-centred communication. Computer use may have amplified existing physician behaviours regarding medical record use. CONCLUSION: We noted both positive and negative effects of EHR use. This review highlights the need for increased EHR-specific communication training to mitigate adverse effects and for continued acknowledgement of patient perspectives.


Assuntos
Comunicação , Registros Eletrônicos de Saúde , Relações Médico-Paciente , Feminino , Humanos , Masculino , Exame Físico , Consultórios Médicos
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