Genotype-defined cancer risk in juvenile polyposis syndrome.

BACKGROUND: Germline mutations in SMAD4 and BMPR1A disrupt the transforming growth factor ß signal transduction pathway, and are associated with juvenile polyposis syndrome. The effect of genotype on the pattern of disease in this syndrome is unknown. This study evaluated the differential impact of SMAD4 and BMPR1A gene mutations on cancer risk and oncological phenotype in patients with juvenile polyposis syndrome. METHODS: Patients with juvenile polyposis syndrome and germline SMAD4 or BMPR1A mutations were identified from a prospectively maintained institutional registry. Medical records were reviewed and the clinical patterns of disease were analysed. RESULTS: Thirty-five patients had germline mutations in either BMPR1A (8 patients) or SMAD4 (27). Median follow-up was 11 years. Colonic phenotype was similar between patients with SMAD4 and BMPR1A mutations, whereas SMAD4 mutations were associated with larger polyp numbers (number of patients with 50 or more gastric polyps: 14 versus 0 respectively). The numbers of patients with rectal polyps was comparable between BMPR1A and SMAD4 mutation carriers (5 versus 17). No patient was diagnosed with cancer in the BMPR1A group, whereas four men with a SMAD4 mutation developed gastrointestinal (3) or extraintestinal (1) cancer. The gastrointestinal cancer risk in patients with juvenile polyposis syndrome and a SMAD4 mutation was 11 per cent (3 of 27). CONCLUSION: The SMAD4 genotype is associated with a more aggressive upper gastrointestinal malignancy risk in juvenile polyposis syndrome.

Comparison of hospital costs for single-port and conventional laparoscopic colorectal resection: a case-matched study.

BACKGROUND: Whether single-port laparoscopic (SPL) colorectal resection is cost-effective in comparison to conventional laparoscopy remains unclear. The aim of this study is to compare hospital costs for single-port versus conventional laparoscopic colorectal resections. METHODS: Patients with available cost data who underwent (SPL) colorectal resection between December 2007 and December 2010 were matched with conventional (multiport) laparoscopic (CL) counterparts for age, gender, American Society of Anesthesiologists score, body mass index, operation type and year of surgery. Patients who underwent hand-assisted laparoscopic surgery were not included in the study. Direct hospital costs for the two groups were compared. RESULTS: There were 90 patients in the SPL group and 90 patients in the CL group. Age (p = 0.79), gender (p = 0.88), body mass index (p = 0.82), American Society of Anesthesiologists score (p = 1) and diagnosis (p = 0.85) were similar in both groups. Operation type (p = 1), estimated blood loss (p = 0.17) and length of hospital stay (p = 0.06) were comparable between the groups. Operation time was significantly shorter in the SPL group (p < 0.001), thus anesthesia cost was significantly lower in this group (p = 0.003). Total costs (p = 0.5), operating room (p = 0.65), nursing (p = 0.13), pharmacy (p = 0.6), radiology (p = 0.27), professional (p = 0.38) and pathology/laboratory (p = 0.46) costs were similar between the two groups. CONCLUSIONS: Single-port laparoscopic colorectal resection can be performed with comparable hospital costs to conventional multiport laparoscopy.

A giant cervical nabothian cyst compressing the rectum, differential diagnosis and literature review.

Nabothian cysts generally being small-sized and multiple are common gynecopathological conditions of women in reproductive age. We report a case of a giant nabothian cyst compressing the rectum apparently without gynecologic symptoms. Initial symptoms of pain and difficulty in defecation due to compression on the rectal wall because of the huge size of the cyst might be the first case in the literature. We made the differential diagnosis from adenoma malignum (minimal-deviation adenocarsinoma) by using immunhistochemical and histopathological techniques.

Effect of pregabalin on post-dural-puncture headache following spinal anesthesia and lumbar puncture.

In this study, we aimed to investigate the effect of pregabalin on post-dural-puncture headache (PDPH). Forty patients who developed PDPH after spinal anesthesia or diagnostic and/or therapeutic lumbar puncture were divided into two groups and followed for 5 days. The first group received 150 mg/day oral pregabalin for the first 3 days, then 300 mg/day for a further 2 days. The second group received a placebo for the same length of time. Patient headaches were scored using the visual analog scale, and diclofenac sodium and pethidine requirements were recorded. Relative to the placebo group, the group administered pregabalin had significantly lower visual analog scale scores after the second day of treatment, and had significantly lower diclofenac sodium requirements. Our results indicate that pregabalin may be useful for the management of PDPH.