4q32�Cq35 and 6q16�Cq22 are valuable candidate regions for split hand/foot malformation

On the basis of the Human Cytogenetic Database, a computerized catalog of the clinical phenotypes associated with cytogenetically detectable human chromosome aberrations, we collected from the literature 102 cases with chromosomal aberrations and split hand/foot malformation or absent fingers/toes. Statistical analysis revealed a highly significant association (P<0.001) between the malformation and the chromosomal bands 4q32–q35, 5q15, 6q16–q22 and 7q11.2–q22 (SHFM1). Considering these findings, we suggest additional SHFM loci on chromosome 4q, 6q and probably 5q. The regions 4q and 6q have already been discussed in the literature as additional SHFM loci. We now show further evidence. In the proposed regions, there are interesting candidate genes such as, on 4q: HAND2, FGF2, LEF1 and BMPR1B; on 5q: MSX2, FLT4, PTX1 and PDLIM7; and on 6q: SNX3, GJA1, HEY2 and Tbx18.     

Hiatal hernia repair at the initial laparoscopic adjustable gastric band operation reduces the need for reoperation

Background Intractable reflux, either due to gastric prolapse or concentric pouch dilatation has been the most common indication for reoperation or band removal after laparoscopic adjustable gastric banding (LAGB). We have previously found that a simple hiatal hernia repair (HHR) leads to remission of these symptoms minimizing the need for band removal. We have subsequently added crural repair/HHR at the initial operation, where indicated. In this study compare the rate of reoperation in patients who underwent LAGB alone, or with concurrent HHR. Methods A retrospective review of a prospective database of all patients undergoing LAGB was performed to determine the incidence of reoperation in the two groups. Results Between July 2001 and August of 2006, 1298 patients underwent LAGB and 520 patients underwent LAGB with concurrent HHR (LAGB/HHR). The mean initial weight and BMI were 128 kg (range, 71.1–245.7 kg) and 45.4 kg/m² (range, 28–75 kg/m²). Average follow-up for the LAGB and LAGB/HHR groups was 24.8 and 20.5 months, respectively. Rate of reoperation for HHR alone, or with band slip or concentric pouch dilatation, for LAGB and LAGB/HHR groups was 5.6% and 1.7% respectively (p < 0.001). Total reoperation rate for slip, HHR and pouch dilatation was 7.9% and 3.5%, respectively (p < 0.001). There was no significant difference in rate of slip repair alone between the two groups: 2.3% and 1.7%, respectively (p < 0.44). Conclusions Adding HHR to LAGB where indicated significantly reduces reoperation rate. Every effort should be made to detect and repair HHR during placement of the band, as it will decrease future need for reoperation.     

Features of Krukenberg-type tumors--clinical study and review

Krukenberg-type tumors (KT) are rare among ovarian metastases, but responsible for the most frequent diagnostic confusions with ovarian cancer. They are peculiar: uncertain pathogenesis, challenging etiological diagnosis, poorer prognosis for the primary. We studied 9 cases, with a mean age of 52 years, operated since 2001; no case was discovered as a result of prophylactic oophorectomy. Timing of TK diagnosis: 3--metachronous, 4--synchronous, as incidental discovery and 2--retrospective pathological diagnosis. Site of primary: 3--gastric, 5--colonic or appendiceal, 1--breast. Imaging appearance was useful only if interpreted in clinical conditions. Morphology: 7/9 bilateral, solid or mixed gross appearance, oval, mean diameters 9.4/7.8 cm. Microscopy: in 8 KT of digestive origin, 3--signet-ring cell carcinoma, 3--mucinous adenocarcinoma, 2--mixed pattern; 1 KT or breast origin was diagnosed by immunohistochemistry; 6/9 presented microscopic peritoneal despite a lack of strong correlation with the appearance of carcinomatosis or cytology of ascites. Survival: 3--no evidence, 5--disease-free after 4-13 months, 1--survived 2 years after debulking (4 years after colectomy). Clinical, evolutive and prognostic features of KT are determined by the biologically behavior of the primary (rapid lymphatic and hematogenous spread to the ovary), so the benefit of surgery is limited. Bilateral ovarian tumors, particularly in premenopausal women, must raise a high index of suspicion for KT, before or during surgery; diagnosis is a team challenge.     

Minimal laser conization during pregnancy

The objective of this study was to evaluate a minimal laser conization procedure during pregnancy for safe diagnosis and treatment of carcinoma in situ. This was a clinical prospective study in a University Hospital. Seventy-five pregnant women selected on the basis of a cervical smear showing carcinoma in situ or dysplasia, or an extensive picture confirmed by colposcopy, were referred for minimal conization procedure. A free-hand minimal conization procedure using a carbon dioxide (CO₂) laser was performed in ambulant care under local anaesthesia. The minimal conization procedure is defined as the removal of a 7.0 mm high, slightly conical tissue specimen from the uterine cervix containing the entire transformation zone. After the cone specimen was taken, routine cervical curettage was also performed. There were no complications attributable to the conization procedure and no adverse effects either during pregnancy or at delivery. Histopathological examination of the cone specimens from 75 patients revealed carcinoma in situ or dysplasia in 65 cases. More advanced malignancy was found in 10 cases; micro-invasive carcinoma stage 1A (n = 7) or stage 1B (n = 3). The minimal conization procedure with CO₂ laser during pregnancy enables safe diagnosis of carcinoma in situ selected by cytology and colposcopy. It also proved useful for diagnosis and treatment of stage 1A or stage 1B carcinoma, enabling pregnancy to be preserved and radical cancer treatment to be postponed until delivery.