Summary
Here we discuss how whole-exome sequencing and whole-genome Selleckchem Nutlin-3 sequencing are used in basic research and clinical care. These new techniques promise to speed research and affect how healthcare is delivered.”
“A best evidence topic in cardiothoracic surgery
was written according to a structured protocol. The question addressed was ‘Does Warden’s procedure reduce sinus node dysfunction (SND) after surgery for partial anomalous pulmonary venous connection?’ Altogether 101 papers were found using the reported search; of which 10 papers provided the best evidence to answer the question. The authors, journal, date and country of publication, patient group studied, study type, relevant outcomes, length of follow-up and results of these studies were tabulated. There was a particular reference to Warden’s procedure, avoidance of incision across the cavoatrial junction and the postoperative sinus node status. There was a direct reference to the adoption of Warden’s procedure in nine studies while one study emphasized the careful use of incision across the cavoatrial MK-2206 PI3K/Akt/mTOR inhibitor junction as a way of averting postoperative SND. The evidence supports the notion that preservation of the sinus node and its blood supply through the adoption of
Warden’s technique results in near-absent SND during long-term follow-up. The incidence of SND ranged from 0 to 6.5% when Warden’s procedure was used, increasing to 18.1% when the atrial incision was extended across the cavoatrial junction into the superior vena cava and reaching as
high as 55% in double-patch repair. The study limitations include the lack of randomized controlled trial, absence of 24 h Holter monitoring in most of the patients HDAC inhibitor and shorter periods of follow-up.”
“Polymorphous low-grade adenocarcinoma (PLGA) is a rare tumor, mostly affecting the minor salivary glands of the oral cavity. We report a case of PLGA which occurred within the maxillary sinus in a 59-year-old woman. The tumor was resected through a transnasal endoscopic approach with wide margins. To the best of our knowledge, this is the first reported case with primary PLGA of the maxillary sinus.”
“Purpose of review
Fragile X syndrome is the most common form of inherited intellectual disability. Over the past 2 decades, insights into the cause of this disease have increased tremendously. This review will highlight recent discoveries with an emphasis on biochemical pathways affected in the disorder that are potentially amenable to treatment.
Recent findings
Recent work in the field demonstrated that multiple pathways are deregulated as a consequence of the FMR1 gene inactivation in patients with fragile X syndrome. In fragile X patients, no fragile X mental retardation protein is formed and thereby protein translation is compromised. As a consequence, a variety of biological pathways are disturbed.