Cantú syndrome is a rare disorder characterized by congenital hypertrichosis, neonatal macrosomia, a distinct osteochondrodysplasia, and cardiomegaly. Using an exome-sequencing approach applied to one proband-parent trio and three unrelated single cases, we identified heterozygous mutations in ABCC9 in all probands. With the inclusion of the remaining cohort of ten individuals with Cantú syndrome, a total of eleven mutations in ABCC9 were found. The de novo occurrence in all six simplex cases in our cohort substantiates the presence of a dominant disease mechanism. All mutations were missense, and several mutations affect Arg1154. This mutation hot spot lies within the second type 1 transmembrane region of this ATP-binding cassette transporter protein, which may suggest an activating mutation. ABCC9 encodes the sulfonylurea receptor (SUR) that forms ATP-sensitive potassium channels (K(ATP) channels) originally shown in cardiac, skeletal, and smooth muscle. Previously, loss-of-function mutations in this gene have been associated with idiopathic dilated cardiomyopathy type 10 (CMD10). These findings identify the genetic basis of Cantú syndrome and suggest that this is a new member of the potassium channelopathies.

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The scope of the Journal is limited with otology, neurotology, audiology (excluding linguistics) and skull base medicine.The Journal of International Advanced Otology aims to publish manuscripts at the highest clinical and scientific level. J Int Adv Otol publishes original articles in the form of clinical and basic research, review articles, short reports and a limited number of case reports. Controversial patient discussions, communications on emerging technology, and historical issues will also be considered for publication.Target audience of J Int Adv Otol includes physicians and academics who work in the fields of otology, neurotology, audiology and skull base medicine.The editorial and publication processes of the journal are shaped in accordance with the guidelines

The treatment techniques for pilonidal disease are either associated with high recurrence rates or complex procedures. This prospective randomized study compared the outcome of excision and marsupialization technique with sinus excision technique. A total of 40 consecutive patients with limited, chronic pilonidal sinus disease were operated with either excision and marsupialization technique (Group 1, n=20) or sinus excision technique (Group 2, n=20). The demographics, perioperative data, complications and recurrences were recorded. Patient satisfaction was evaluated with a specific questionnaire 16-18 weeks after surgery. Demographic data, preoperative symptoms and the acute disease history were similar between the groups. Operation time, hospital stay and work-off periods were significantly shorter and the number of out-patient procedures was significantly more in Group 2. Although satisfaction scores were similar between the groups, the patients who had no complaint, were "completely satisfied" or would "absolutely recommend the operative technique to other patients" were significantly more in Group 2. In conclusion, the sinus excision technique requires a shorter operation time, hospital stay and work-off period than excision and marsupialization in the treatment of limited, chronic pilonidal disease. The sinus excision technique can be performed as an out-patient procedure in most cases, and seems to be associated with better patient satisfaction.

BackgroundThe aim of our study is to evaluate perioperative and mid-term oncologic outcomes of the patients with colorectal cancer, who underwent emergent curative surgery.MethodsThe study included all patients with colorectal cancer, who underwent surgery for curative intent between 1 January 2012 and 31 December 2014 in General Surgery Department of Kartal Training and Research Hospital. The patients were divided into two groups according to the type of admission (emergent or elective). The data of the patients were retrospectively collected with chart review. Demographic characteristics of the patients, ASA scores, emergent indications and surgical interventions, postoperative complications, pathological findings, oncological therapy, and follow-up findings were investigated.ResultsFifty-one and 209 patients were evaluated in both groups, respectively. Rate of right sided and sigmoid/recto-sigmoid tumors were significantly higher in emergent group. Ostomy rate, early morbidity, ICU need, transfusion, and mortality rates in emergent group were significantly higher than elective group. Average length of hospital stay in emergent group was also significantly longer in elective group (11.2 ± 3.2 vs. 8.4 ± 2.4 days). The patients in emergent group had a much lower survival rate than those in elective group.ConclusionIn our study, emergency presentation of colorectal cancer was found associated with increased morbidity, a longer length of stay, increased in-hospital mortality, advanced pathologic stage and worsened long term survival in even same stages.