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1.
J Biol Regul Homeost Agents ; 30(1): 211-7, 2016.
Artículo en Inglés | MEDLINE | ID: mdl-27049094

RESUMEN

As ultrasound diagnosis is applied more frequently in gynecological acute abdomen, we carried out this study to discuss the diagnosis of endometriosis with ultrasound imaging and analyze the efficacy of microRNA used for diagnosing endometriosis and evaluating prognosis by comparing differentially expressed microRNA in subjects with or without endometriosis. Ultrasound examination results and clinical pathological examination results of 60 cases of gynecological acute abdomen were compared. Blood samples were collected from patients with endometriosis. Of 60 cases, 38 cases recurred in 20 months after surgery and the remaining 22 cases had no recurrence in the 30-month follow-up. Additionally, blood was collected from 40 patients without endometriosis as control. Then total RNA was extracted from these blood samples to determine the difference of expression of microRNA (miR-17-5p, miR-20a, miR-199a and miR-141). Compared to healthy subjects, the endometriosis patients showed significantly increased expression of miR-199a, but the expression of miR-17-5p, miR-20a and miR-141 had an obvious decrease; the differences were statistically significant (p less than 0.01). For recurred cases, miR-199 showed a remarkably high expression and miR-17-5p and miR-20a expressed significantly low.


Asunto(s)
Abdomen Agudo/diagnóstico por imagen , Enfermedades de los Genitales Femeninos/diagnóstico por imagen , Abdomen Agudo/complicaciones , Abdomen Agudo/genética , Adulto , Femenino , Regulación de la Expresión Génica , Enfermedades de los Genitales Femeninos/complicaciones , Enfermedades de los Genitales Femeninos/genética , Humanos , MicroARNs/genética , MicroARNs/metabolismo , Curva ROC , Reacción en Cadena en Tiempo Real de la Polimerasa , Recurrencia , Ultrasonografía
2.
Am J Med Genet A ; 167A(10): 2447-50, 2015 Oct.
Artículo en Inglés | MEDLINE | ID: mdl-25847166

RESUMEN

Meckel's diverticulum (MD) is the most prevalent congenital anomaly of the gastrointestinal tract and often presents a diagnostic challenge. Patients with trisomy 18 frequently have MD, but the poor prognosis and lack of consensus regarding management for neonates has meant that precise information on the clinical manifestations in infants and children with MD is lacking. We describe the cases of three children with trisomy 18 who developed symptomatic MD. Intussusception was diagnosed in Patient 1, intestinal volvulus in Patient 2, and gastrointestinal bleeding in Patient 3. All three patients underwent surgical treatment and only the Patient 1 died due to pulmonary hypertensive crisis. The other two patients experienced no further episodes of abdominal symptoms. In patients with trisomy 18, although consideration of postoperative complications and prognosis after surgical treatment is necessary, symptomatic MD should carry a high index of suspicion in patients presenting with acute abdomen.


Asunto(s)
Abdomen Agudo/diagnóstico , Hemorragia Gastrointestinal/diagnóstico , Vólvulo Intestinal/diagnóstico , Intususcepción/diagnóstico , Divertículo Ileal/diagnóstico , Trisomía/diagnóstico , Abdomen Agudo/genética , Abdomen Agudo/patología , Abdomen Agudo/cirugía , Preescolar , Cromosomas Humanos Par 18/genética , Femenino , Hemorragia Gastrointestinal/genética , Hemorragia Gastrointestinal/patología , Hemorragia Gastrointestinal/cirugía , Humanos , Lactante , Recién Nacido , Vólvulo Intestinal/genética , Vólvulo Intestinal/patología , Vólvulo Intestinal/cirugía , Intususcepción/genética , Intususcepción/patología , Intususcepción/cirugía , Divertículo Ileal/genética , Divertículo Ileal/patología , Divertículo Ileal/cirugía , Trisomía/genética , Trisomía/patología , Síndrome de la Trisomía 18
3.
Chirurgia (Bucur) ; 98(5): 437-41, 2003.
Artículo en Ro | MEDLINE | ID: mdl-14999972

RESUMEN

The authors are presenting one case of Osler's hereditary angioneurotic oedema, rare genetic disease with dominant autosomal transmission linked to the 11-th chromosome, with clinical aspects resembling to those of surgical acute abdomen, with difficult diagnostic problems. The treatment consist in: fresh plasma administration, antihistaminic drugs and anabolic steroids. The simple laparotomy under general anaesthesia by orotraheal intubation being very dangerous. The patients with Osler's hereditary angioneurotic oedema must be followed-up by the allergology services and educated regarding the disease and it's risks to avoid diagnostic errors with following negative consequences.


Asunto(s)
Abdomen Agudo/diagnóstico , Angioedema/diagnóstico , Abdomen Agudo/genética , Abdomen Agudo/terapia , Adulto , Angioedema/genética , Angioedema/terapia , Diagnóstico Diferencial , Humanos , Masculino , Resultado del Tratamiento
5.
Acta Paediatr ; 91(8): 971-4, 2002.
Artículo en Inglés | MEDLINE | ID: mdl-12222724

RESUMEN

UNLABELLED: Hereditary angioneurotic oedema (HANO) is an autosomal dominant disorder caused by a deficiency of the inhibitor protein Cl-esterase. Recurrent subcutaneous and/or submucosal oedema formation is a hallmark of this disease. HANO is a rare, but potentially life-threatening disorder with a mortality around 20-30%. Acute oedematous abdominal attacks of HANO can mimic a surgical emergency; this is exemplified by the case of a 14-y-old male patient with HANO admitted for such clinical manifestations. CONCLUSION: Diagnostic clues include ascites and abnormalities of hepatic structure visible with ultrasound during the oedematous attack. The importance of appropriate treatment is emphasized.


Asunto(s)
Abdomen Agudo/diagnóstico por imagen , Abdomen Agudo/etiología , Angioedema/complicaciones , Angioedema/diagnóstico por imagen , Hepatitis/diagnóstico por imagen , Hepatitis/etiología , Abdomen Agudo/genética , Enfermedad Aguda , Adolescente , Angioedema/genética , Hepatitis/genética , Humanos , Masculino , Ultrasonografía
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