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1.
J Biol Regul Homeost Agents ; 30(1): 211-7, 2016.
Article in English | MEDLINE | ID: mdl-27049094

ABSTRACT

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.


Subject(s)
Abdomen, Acute/diagnostic imaging , Genital Diseases, Female/diagnostic imaging , Abdomen, Acute/complications , Abdomen, Acute/genetics , Adult , Female , Gene Expression Regulation , Genital Diseases, Female/complications , Genital Diseases, Female/genetics , Humans , MicroRNAs/genetics , MicroRNAs/metabolism , ROC Curve , Real-Time Polymerase Chain Reaction , Recurrence , Ultrasonography
4.
Am J Med Genet A ; 167A(10): 2447-50, 2015 Oct.
Article in English | MEDLINE | ID: mdl-25847166

ABSTRACT

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.


Subject(s)
Abdomen, Acute/diagnosis , Gastrointestinal Hemorrhage/diagnosis , Intestinal Volvulus/diagnosis , Intussusception/diagnosis , Meckel Diverticulum/diagnosis , Trisomy/diagnosis , Abdomen, Acute/genetics , Abdomen, Acute/pathology , Abdomen, Acute/surgery , Child, Preschool , Chromosomes, Human, Pair 18/genetics , Female , Gastrointestinal Hemorrhage/genetics , Gastrointestinal Hemorrhage/pathology , Gastrointestinal Hemorrhage/surgery , Humans , Infant , Infant, Newborn , Intestinal Volvulus/genetics , Intestinal Volvulus/pathology , Intestinal Volvulus/surgery , Intussusception/genetics , Intussusception/pathology , Intussusception/surgery , Meckel Diverticulum/genetics , Meckel Diverticulum/pathology , Meckel Diverticulum/surgery , Trisomy/genetics , Trisomy/pathology , Trisomy 18 Syndrome
5.
Chirurgia (Bucur) ; 98(5): 437-41, 2003.
Article in Romanian | MEDLINE | ID: mdl-14999972

ABSTRACT

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.


Subject(s)
Abdomen, Acute/diagnosis , Angioedema/diagnosis , Abdomen, Acute/genetics , Abdomen, Acute/therapy , Adult , Angioedema/genetics , Angioedema/therapy , Diagnosis, Differential , Humans , Male , Treatment Outcome
6.
Acta Paediatr ; 91(8): 971-4, 2002.
Article in English | MEDLINE | ID: mdl-12222724

ABSTRACT

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.


Subject(s)
Abdomen, Acute/diagnostic imaging , Abdomen, Acute/etiology , Angioedema/complications , Angioedema/diagnostic imaging , Hepatitis/diagnostic imaging , Hepatitis/etiology , Abdomen, Acute/genetics , Acute Disease , Adolescent , Angioedema/genetics , Hepatitis/genetics , Humans , Male , Ultrasonography
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