Objective To analyze the clinical features, diagnosis and treatment of the primary omental torsion (POT).Method The clinical data of 12 patients with POT admitted to our hospital from May 2010 to May 2015 were retrospectively reviewed.The clinical manifestations, laboratory investigation, medical image, treatment and outcomes of patients were analyzed.Results Twelve cases were all males with median age of 50.The POT was diagnosed during surgical exploration and confirmed pathologically after operation.Right abdominal pain was the main complaint in 11 cases, and pain migration to right lower quadrant in 1 case.In physical examination, the local peritonitis signs were elicited, including right quadrant tenderness and rebound tenderness at same location.All cases had mal temperature except one presenting low fever of 37.5 ℃.White blood cell counts was 12×109/L in one case, and(4-10)109/L in other 11 cases.Abdominal solid mass was found in one case by ultrasonic scan, measured 7 cm×5 cm with unclear surrounding boundary.Mesenteric fat opacity and dropsy were shown in 10 cases on CT plain scan, while thickness and effusion of hepatic flexure of colon was found in one case;however, none of them were suggested as POT by these two image study before operation.All patients were gnosed as localized peritonitis or appendicitis clinically before emergent surgical exploration.The necrotic omentum was resected and all patients recovered smoothly.There were no complications in all cases during one-year follow-up.The CT images were reviewed after operation, which indicated that the mesentery of dropsy and the thickened hepatic flexure of colon should be the imaging signs of omental torsion;and also 9 of 12 cases had whirlpools sign.Conclusion The preoperative diagnosis of POT is difficulty, the typical whirlpools sign of abdominal mass on CT imaging is of highly value in diagnosis.The surgical removal of omental infarction is effective and the prognosis is good.

OBJECTIVEWiskott-Aldrich syndrome (WAS) is a rare X-linked primary immunodeficiency characterized by microthrombocytopenia, eczema, recurrent infections, and an increased incidence of autoimmunity and malignancies. The patients always have a severe clinical phenotype that can result in death if not diagnosed and treated early in life. The treatment of choice with the best outcome is hematopoietic stem cell transplantation, preferably from a matched related donor. But uncertain treatment effect and high treatment cost limit its clinical application. It is the best strategy that avoiding birth of a fetus with defect through prenatal diagnosis at present. This study aimed to analyze the mutation of WASP gene in 4 Chinese families with WAS and to provide prenatal diagnosis for the high-risk fetus.

METHODThe probands of the four WAS families were all males, one of whom was deceased but had a family history and clinical datas integrated. All the patients were detected with blood routine tests, immunological tests and bone marrow examination. PCR and bilateral direct sequencing of PCR product was carried out in the regions of exon and exon-intron boundaries of WASP gene for 3 probands, 4 mothers and 100 unrelated healthy individuals as control. Prenatal diagnosis was provided for the two fetuses at the first trimester by mutation analysis.

RESULTFour WASP gene mutations were detected: c.91A > G (p.E31K), c.665C > T (p.R211X), c.397G > A (p.E133K), c.952-953delCC (p. P317fsX18), among which c.952-953delCC (p. P317fsX18) was first reported. Mothers in Family 2, 3 and 4 were carriers of WASP gene mutation, but family 1 was considered as a de-novo mutation. None of the 100 unaffected subjects had the above mutants. Prenatal diagnosis indicated that the fetus in family 2 was male and carried the same mutation as the proband, so the fetus was presumably to be a patient. The parents decided to receive an induced abortion. Following the termination of the pregnancy, the result of gene analysis of the aborted tissues was consistent with prenatal diagnosis. The fetus in family 3 was normal male confirmed by normal test results six months after birth.

CONCLUSIONThe 4 mutations of the WASP gene probably were causative to the families of WAS, among which c.952-953delCC was reported for the first time. Prenatal diagnosis by DNA sequencing is the effective method to avoid birth of WAS patient.

Asian Continental Ancestry Group ; genetics ; Base Sequence ; DNA Mutational Analysis ; Exons ; genetics ; Female ; Fetal Diseases ; diagnosis ; Heterozygote ; Humans ; Male ; Mutation ; genetics ; Polymerase Chain Reaction ; Pregnancy ; Prenatal Diagnosis ; Sequence Analysis, DNA ; Wiskott-Aldrich Syndrome ; diagnosis ; genetics ; Wiskott-Aldrich Syndrome Protein ; genetics ; X-Linked Combined Immunodeficiency Diseases