Optimization of diagnostic imaging use in patients with acute abdominal pain (OPTIMA): Design and rationale

Background

Superior mesenteric injury is a rare entity but when it occurs, short bowel syndrome is one of the uninvited results of the emergency surgical procedures.

Case presentation

We present a 19-year-old boy with blunt abdominal trauma which caused serious mesenteric injury. Because ultrasound revealed free intraabdominal fluid, he underwent emergency laparotomy. Adequate vascularization of approximately 20 cm of proximal jejunal segment and approximately 20 cm of terminal ileum was observed. Nevertheless, the mesentery of the rest of the small intestine segments was ruptured completely. We performed an end-to-end anastomosis between a distal branch of the superior mesenteric artery in the mesentery of the ileal segment and a branch of the superior mesenteric artery using separate sutures of 7.0 monofilament polypropylene. The patient's gastrointestinal passage returned to normal on the postoperative day 2. He recovered without any complication and was discharged from hospital on the postoperative day seven.

Discussion

In this case report, we emphasize the importance of preservation of injured mesenteric artery due to abdominal trauma which could have resulted in short bowel syndrome.     

Progressive hearing loss and vestibular dysfunction caused by a homozygous nonsense mutation in CLIC5

In a consanguineous Turkish family diagnosed with autosomal recessive nonsyndromic hearing impairment (arNSHI), a homozygous region of 47.4 Mb was shared by the two affected siblings on chromosome 6p21.1-q15. This region contains 247 genes including the known deafness gene MYO6. No pathogenic variants were found in MYO6, neither with sequence analysis of the coding region and splice sites nor with mRNA analysis. Subsequent candidate gene evaluation revealed CLIC5 as an excellent candidate gene. The orthologous mouse gene is mutated in the jitterbug mutant that exhibits progressive hearing impairment and vestibular dysfunction. Mutation analysis of CLIC5 revealed a homozygous nonsense mutation c.96T>A (p.(Cys32Ter)) that segregated with the hearing loss. Further analysis of CLIC5 in 213 arNSHI patients from mostly Dutch and Spanish origin did not reveal any additional pathogenic variants. CLIC5 mutations are thus not a common cause of arNSHI in these populations. The hearing loss in the present family had an onset in early childhood and progressed from mild to severe or even profound before the second decade. Impaired hearing is accompanied by vestibular areflexia and in one of the patients with mild renal dysfunction. Although we demonstrate that CLIC5 is expressed in many other human tissues, no additional symptoms were observed in these patients. In conclusion, our results show that CLIC5 is a novel arNSHI gene involved in progressive hearing impairment, vestibular and possibly mild renal dysfunction in a family of Turkish origin.     

Prenatal sonographic diagnosis of nondysraphic intramedullary lipomas: A case report

Nondysraphic intramedullary lipomas of the spinal cord are rare, and there are currently no reports of their observation in utero. Here, we present the sonographic (US) findings in such a case. Four intraspinal hyperechoic masses were observed on US on the dorsal aspect of the fetal spine in a 30‐year‐old woman at 30 weeks' gestation. Findings were consistent with those of prenatal MRI and were confirmed on autopsy after induced abortion. © 2017 Wiley Periodicals, Inc. J Clin Ultrasound 46 :278–281, 2018     

Arterial Stiffness as a Predictor of Clinical Hypertension

The association between vascular stiffening and blood pressure is likely bidirectional. The present study was designed to examine temporal relationships among vascular stiffness, blood pressure progression, and hypertension. The Asymptomatic Polyvascular Abnormalities Community study is a community‐based, prospective, long‐term follow‐up observational study. The present investigation is based on the baseline examinations (2010–2011) and the first follow‐up measurements (2012–2013) included in the study. A total of 4025 participants were followed for an average of 27 months. Of 2153 participants free of hypertension at the baseline examination, 432 (20.07%) had incident hypertension. The authors observed that brachial‐ankle pulse wave velocity (baPWV) was an independent predictor of incident hypertension. baPWV during baseline examination was positively associated with higher systolic blood pressure, diastolic blood pressure, pulse pressure, and mean arterial pressure during the first follow‐up examination. baPWV but not blood pressure during baseline examination was associated with baPWV during the first follow‐up examination. This study not only provides evidence that baPWV is an independent predictor of blood pressure progression and incident hypertension, but also provides evidence that blood pressure is not associated with baPWV after adjusting for baseline baPWV.     

Purification and biologic characterization of plasma-derived megakaryocyte growth and development factor

The isolation and cloning of the ligand for the cytokine receptor, Mpl, have been recently described. In this report we present details of the purification of this novel cytokine (megakaryocyte growth and development factor [MGDF]) from aplastic canine plasma. Two forms of canine MGDF, with apparent molecular weights of 25 kD and 31 kD and sharing a common N-terminal amino acid sequence, were isolated. The sole contaminant detected in purified 25-kD or 31-kD MGDF was canine Ig. Canine MGDF is characterized as a human megakaryocyte colony- stimulating factor that acts synergistically with human recombinant stem cell factor but not interleukin-3. MGDF also appears to be physiologically regulated in response to platelet demand. In canine and murine models, serum levels of MGDF activity peak during the thrombocytopenic periods after irradiation, 5-fluorouracil, or antiplatelet antisera injections. These data indicate that the megakaryocyte-stimulating activity that accumulates in plasma in response to platelet losses is a novel cytokine that functions through an interaction with the Mpl cytokine receptor.     

Bone marrow transplantation for Fanconi anemia

Fanconi anemia is a genetic disorder associated with diverse congenital abnormalities, progressive bone marrow failure, and increased risk of leukemia and other cancers. Affected persons often die before 30 years of age. Bone marrow transplantation is an effective treatment, but there are few data regarding factors associated with transplant outcome. We analyzed outcomes of HLA-identical sibling (N = 151) or alternative related or unrelated donor (N = 48) bone marrow transplants for Fanconi anemia performed between 1978 and 1994 and reported to the International Bone Marrow Transplant Registry. Fanconi anemia was documented by cytogenetic studies in all cases. Patient, disease, and treatment factors associated with survival were determined using Cox proportional hazards regression. Two-year probabilities (95% confidence interval) of survival were 66% (58% to 73%) after HLA-identical siblings transplants and 29% (18% to 43%) after alternative donor transplants. Younger patient age (P .0001), higher pretransplant platelet counts (P = .04), use of antithymocyte globulin (P = .005), and use of low-dose (15 to 25 mg/kg) cyclophosphamide plus limited field irradiation (P = .009) for pretransplant conditioning and cyclosporine for graft-versus-host disease prophylaxis (P = .002) were associated with increased survival. Bone marrow transplants are effective therapy for Fanconi anemia. The adverse impact of increasing age and lower pretransplant platelet count on transplant outcome favors earlier intervention, especially when there is an HLA-identical sibling donor.