Optical Genome Mapping and Single Nucleotide Polymorphism Microarray: An Integrated Approach for Investigating Products of Conception.

Conventional cytogenetic analysis of products of conception (POC) is of limited utility because of failed cultures, as well as microbial and maternal cell contamination (MCC). Optical genome mapping (OGM) is an emerging technology that has the potential to replace conventional cytogenetic methods. The use of OGM precludes the requirement for culturing (and related microbial contamination). However, a high percentage of MCC impedes a definitive diagnosis, which can be addressed by an additional pre-analytical quality control step that includes histological assessment of H&E stained slides from formalin-fixed paraffin embedded (FFPE) tissue with macro-dissection for chorionic villi to enrich fetal tissue component for single nucleotide polymorphism microarray (SNPM) analysis. To improve the diagnostic yield, an integrated workflow was devised that included MCC characterization of POC tissue, followed by OGM for MCC-negative cases or SNPM with histological assessment for MCC-positive cases. A result was obtained in 93% (29/31) of cases with a diagnostic yield of 45.1% (14/31) with the proposed workflow, compared to 9.6% (3/31) and 6.4% (2/31) with routine workflow, respectively. The integrated workflow with these technologies demonstrates the clinical utility and higher diagnostic yield in evaluating POC specimens.

Trichorhinophalangeal syndrome type II associated with aplasia cutis congenita in a neonate.

Aplasia cutis congenita (ACC) was diagnosed in a newborn with dysmorphic facial features, oligodactyly of the bilateral feet, and hip instability. The neonate's clinical abnormalities in addition to genetic testing confirmed a diagnosis of trichorhinophalangeal syndrome (TRPS) type II. The possibility of concurrent Adams-Oliver syndrome (AOS) is raised.

The monoamine-oxidase B inhibitor deprenyl increases selection of high-effort activity in rats tested on a progressive ratio/chow feeding choice procedure: Implications for treating motivational dysfunctions.

Motivated behaviors often are characterized by a high degree of behavioral activation and work output, and organisms frequently make effort-related decisions based upon cost/benefit analyses. Moreover, people with depression and other disorders frequently show effort-related motivational symptoms, such as anergia, psychomotor retardation, and fatigue. Tasks measuring effort-related choice are being used as animal models of these motivational symptoms. The present studies characterized the ability of the monoamine oxidase -B (MAO-B) inhibitor deprenyl (selegiline) to enhance selection of high-effort lever pressing in rats tested on a concurrent progressive ratio (PROG)/chow feeding choice task. Deprenyl is widely used as an antiparkinsonian drug, but it also has been shown to have antidepressant effects in humans, and to induce antidepressant-like effects in traditional rodent models of depression. Systemic administration of deprenyl (1.5-12.0 mg/kg IP) shifted choice behavior, significantly increasing markers of PROG lever pressing at a moderate dose (6.0 mg/kg), and decreasing chow intake at 6.0 and 12.0 mg/kg. Intracranial injections of deprenyl into nucleus accumbens (2.0 and 4.0 µg) also increased PROG lever pressing and decreased chow intake. Microdialysis studies showed that the dose of deprenyl that was effective at increasing PROG lever pressing (6.0 mg/kg) also significantly elevated extracellular dopamine in nucleus accumbens. Thus, similar to the well-known antidepressant bupropion, deprenyl is capable of increasing selection of high-effort PROG lever pressing at doses that increase extracellular dopamine in nucleus accumbens. These studies have implications for the potential use of MAO-B inhibitors as treatments for the motivational symptoms of depression and Parkinsonism.

Concomitant deep venous thrombosis, femoral artery thrombosis, and pulmonary embolism after air travel.

The association between air travel and deep venous thrombosis and/or pulmonary embolism "economy-class syndrome" is well described. However, this syndrome does not describe any association between long duration travel and arterial thrombosis or coexistence of venous and arterial thrombosis. We present a case of concomitant deep venous thrombosis, acute femoral artery thrombosis, and bilateral pulmonary embolisms in a patient following commercial air travel. Echocardiogram did not reveal an intracardiac shunt that may have contributed to the acute arterial occlusion from a paradoxical embolus. To our knowledge, this is the first report in the literature that associates air traveling with both arterial and venous thrombosis.

Acquired abdominal intercostal hernia: a case report and literature review.

Acquired abdominal intercostal hernia (AAIH) is a rare disease phenomenon where intra-abdominal contents reach the intercostal space directly from the peritoneal cavity through an acquired defect in the abdominal wall musculature and fascia. We discuss a case of a 51-year-old obese female who arrived to the emergency room with a painful swelling between her left 10th rib and 11th rib. She gave a history of a stab wound to the area 15 years earlier. A CT scan revealed a fat containing intercostal hernia with no diaphragmatic defect. An open operative approach with a hernia patch was used to repair this hernia. These hernias are difficult to diagnose, so a high clinical suspicion and thorough history and physical exam are important. This review discusses pathogenesis, clinical presentation, complications, and appropriate treatment strategies of AAIH.

Prevention of type II endoleak by laparoscopic inferior mesenteric artery ligation.

Abdominal aortic aneurysm repair by endovascular techniques have gained wide acceptance as a treatment option. A potential well-known complication of endovascular repair includes endoleak. Specifically, type II endoleak, which is described as retrograde flow into the aneurysm sac through collateral vessels, can occur in up to 30% of patients. Certain preoperative factors can predict which patients may develop type II endoleak. This article describes laparoscopic inferior mesenteric artery ligation prior to endovascular abdominal aortic aneurysm repair as a viable treatment option in the prevention of type II endoleak.