Case report: Pai syndrome with multiple ventricular septal defect and without cleft palate.

Pai syndrome is described as the association of a midline cleft lip, midline facial polyps, and lipoma of the central nervous system. However, only a few patients present the full triad, and most exhibit a wide spectrum of phenotypic variability. Its entire clinical spectrum is still poorly delineated and the etiology remains unknown. In this report, a newborn was presented with congenital nasal septal lipoma, lipoma of the corpus callosum, multiple ventricular septal defect, and additional minor facial dysmorphism. This entity, multiple ventricular septal defect, which has never been reported in PS. Cytogenetic analysis showed normal male 46, XY karyotype. Chromosomal microarray analysis (750 K array) was also unremarkable. This case draws attention with the presence of multiple ventricular septal defect in Pai syndrome and is important in terms of providing phenotypic diversity. To our knowledge, this is also the first genetically evaluated case of Pai syndrome from Turkey.

Randomized controlled trial of 8 weeks' vs 12 weeks' interval between neoadjuvant chemoradiotherapy and surgery for locally advanced rectal cancer.

AIM: The aim was to compare the pathological complete response (pCR) rate at 8 compared to 12 weeks' interval between completion of neoadjuvant chemoradiotherapy (CRT) and surgery in patients with locally advanced rectal cancer. METHOD: This was a randomized trial which included a total of 330 patients from two institutions. Patients with locally advanced (T3-4N0M0, TxN+M0) rectal cancer were randomized into 8- and 12-week interval groups. All the patients received long-course CRT (45 Gy in 1.8 Gy fractions and concomitant oral capecitabine or 5-fluorouracil infusion). Surgery was performed at either 8 or 12 weeks after CRT. The primary end-point was pCR. Secondary end-points were sphincter preservation, postoperative morbidity and mortality. RESULTS: Two-hundred and fifty-two patients (n = 125 in the 8-week group, n = 127 in the 12-week group) were included. Demographic and clinical characteristics were similar between groups. The overall pCR rate was 17.9% (n = 45): 12% (n = 15) in the 8-week group and 23.6% (n = 30) in the 12-week group (P = 0.021). Sphincter-preserving surgery was performed in 107 (85.6%) patients which was significantly higher than the 94 (74%) patients in the 12-week group (P = 0.016). Postoperative mortality was seen in three (1.2%) patients overall and was not different between groups (1.6% in 8 weeks vs 0.8% in 12 weeks, P = 0.494). Groups were similar in anastomotic leak (10.8% in 8 weeks vs 4.5% in 12 weeks, P = 0.088) and morbidity (30.4% in 8 weeks and 20.1% in 12 weeks, P = 0.083). CONCLUSION: Extending the interval between CRT and surgery from 8 to 12 weeks resulted in a 2-fold increase in pCR rate without any difference in mortality and morbidity.

Long-term Results of Living Donors in Simultaneous Kidney and Liver Transplantations.

INTRODUCTION: Because of the shortage of organs available for transplantation, living related sequential transplantation with the use of liver and a kidney from the same donor has emerged as a reasonable therapeutic alternative. However, there is insufficient literature about the complications that living donors experience after simultaneous kidney and liver transplantations. METHODS: From December 2001 to October 2009, 5 living donors provided simultaneous donation of livers and kidneys and 1 living donor donated first her kidney and then her liver. Demographic data of the donors and information concerning the surgery and postoperative observation were collected prospectively. RESULTS: All of the donors were female. The median age was 27.5 (range, 19-36) years. Indications requiring the simultaneous transplantation of livers and kidneys were primary hyperoxaluria type 1 (PH1) in 5 potential recipients and cirrhosis due to chronic hepatitis B infection and idiopathic chronic renal insufficiency in 1 potential recipient. Four recipients underwent right hepatectomy (segments 5-8) and right nephrectomy; 1 recipient underwent left hepatectomy (segments 2-4) and right nephrectomy; and 1 recipient underwent left lobectomy (segments 2-3) and right nephrectomy. There were no complications except in 1 donor (postoperative ileus). No donor developed hypertension or microalbuminuria. CONCLUSIONS: With the right indications, appropriate preoperative evaluation, meticulous surgical technique, proper postoperative care, and long-term close monitoring to minimize morbidity and mortality risks, liver and kidney donation from the same donor can be considered for simultaneous kidney and liver transplantation.

The prognostic impact of the log odds of positive lymph nodes in colon cancer.

AIM: This study aimed to investigate the prognostic impact of the log odds of positive lymph nodes (LODDS) in colon cancer. METHOD: Four hundred and forty patients with colon cancer were divided into three each groups according to their lymph node ratio (LNR) and LODDS. Survival analysis was performed. RESULTS: The 5-year overall survival (OS) rate was 70.2%. In univariate analysis age, pT and pN stage, tumour grade, lymphatic, venous and perineural invasion, surgical margin clearance, LNR and LODDS were significantly associated with OS. In multivariate analysis age, surgical margins, perineural invasion and LODDS were found to be independent prognostic factors. In subgroup analysis of patients with an inadequate number of examined lymph nodes (NELN) (n = 76) and node-negative patients (n = 210), LODDS retained its prognostic value, whereas the impact of LNR was not statistically significant (P = 0.063). The overall survival rates of node-negative patients in the LODDS groups 0, 1 and 2 were 81%, 74.2% and 50%, respectively (P = 0.020). LNR and LODDS classifications were both significantly associated with survival in Stage III colon cancer, but only LODDS was an independent prognostic factor. CONCLUSION: Conventional TNM staging for nodes (pN) and LNR status cannot reliably classify node-negative patients into homogeneous groups. LODDS provides more valuable information than LNR independently of the NELN.

Low dose-rate effects of cesium-137 and iodine-125 on cell survival, cell progression, and chromosomal alterations.

Chinese hamster ovary (CHO-AA8) cells in exponential growth were exposed to graded doses of radiation from iodine-125 (I-125) or cesium-137 (Cs-137) at various low dose rates, then monitored for cell number and clonogenic integrity. Cellular kinetics and the induction of sister chromatid exchanges and chromosomal aberrations were evaluated in cells after irradiation. Dose rates within the range 3-23 cGy/h had little effect on these fast growing cells but there was significant cell killing at dose rates of 33-70 cGy/h. The relative biological effectiveness (RBE) values for I-125 relative to Cs-137, calculated from the cell growth curves and the percentage of plating efficiencies of irradiated cells as a fraction of control, were 1.28 and 1.5., respectively, and did not vary over the dose-rate range from 3 to 70 cGy/h. The percentage of mitoses with chromosomal aberrations increased as a function of dose, but showed little if any change with dose rate. Cells passing through two cell cycles after irradiation also showed dose-dependent increases in the frequency of sister chromatid exchanges. That is, viable cells continue to show the effects of low dose-rate irradiation at the DNA level long after irradiation is concluded. Frequencies of cells in mitosis (mitotic index) and of cells incorporating bromodeoxyuridine (BrdU) (cycling S phase cells) indicated that low dose-rate I-125 irradiation produced a much more profound delay than low dose-rate of Cs-137 irradiation. This more pronounced inhibition may play a significant role in enhancing the effect of low dose rate I-125 in a clinical situation.