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.     

Early results for below-knee bypasses using Distaflo

In patients who require lower extremity revascularization, prosthetic graft is a reasonable alternative in the absence of a suitable autologous vein conduit. However, prosthetic bypass grafts have limited patency, especially for infrageniculate reconstruction. Polytetrafluoroethylene grafts were geometrically modified at the distal end to increase their patency. The authors reviewed their experience with the Distaflo graft in patients who required lower extremity below-knee popliteal and tibial bypasses when no suitable autologous vein conduit was available. Chart review was conducted of the 57 patients who underwent 60 lower extremity bypasses over a 3-year period between June 2003 and April 2006. Twenty-four revascularizations were constructed to the tibial outflow sites, whereas the remaining grafts were placed to the below-knee (28) and above-knee (8) popliteal artery, respectively. Study endpoints were primary, assisted primary, secondary patency, and limb salvage at the time of follow-up. Distaflo bypass was performed at the infrageniculate level in 86.7% of cases (28 below-knee popliteal, 24 tibial). Mean follow-up time was 12 months (range, 0.5-37.5 months). At 1 year, primary, assisted primary, and secondary patencies and limb salvage rates for below-knee popliteal bypasses were 83.5%, 89.5%, 94.7%, and 94.4%, respectively. Primary, assisted primary, and secondary patencies and limb salvage rates for tibial bypasses were 44.4%, 44.4%, 63.2%, and 74.9%, respectively. Distaflo precuffed graft is a good alternative conduit for below-knee popliteal and tibial lower extremity reconstructions in the absence of an autologous vein and appears to have promising early patency and limb salvage rates even when used for tibial bypasses.     

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.     

Y-STR variation among Slavs: evidence for the Slavic homeland in the middle Dnieper basin

A set of 18 Y-chromosomal microsatellite loci was analysed in 568 males from Poland, Slovakia and three regions of Belarus. The results were compared to data available for 2,937 Y chromosome samples from 20 other Slavic populations. Lack of relationship between linguistic, geographic and historical relations between Slavic populations and Y-short tandem repeat (STR) haplotype distribution was observed. Two genetically distant groups of Slavic populations were revealed: one encompassing all Western-Slavic, Eastern-Slavic, and two Southern-Slavic populations, and one encompassing all remaining Southern Slavs. An analysis of molecular variance (AMOVA) based on Y-chromosomal STRs showed that the variation observed between the two population groups was 4.3%, and was higher than the level of genetic variance among populations within the groups (1.2%). Homogeneity of northern Slavic paternal lineages in Europe was shown to stretch from the Alps to the upper Volga and involve ethnicities speaking completely different branches of Slavic languages. The central position of the population of Ukraine in the network of insignificant AMOVA comparisons, and the lack of traces of significant contribution of ancient tribes inhabiting present-day Poland to the gene pool of Eastern and Southern Slavs, support hypothesis placing the earliest known homeland of Slavs in the middle Dnieper basin.     

Microparticle formation and its mechanism in single and double emulsion solvent evaporation.

The emulsification is the first step of the emulsification solvent evaporation method and has been extensively investigated. On the contrary the second step, the solvent transport out from the emulsion droplets that determine the particle morphology and with great influence on the microparticles encapsulation and release behavior has been scarcely studied. This study investigates the mechanism of the solvent elimination from the emulsion droplets and its influence on the particle morphology, encapsulation and release behavior. Usually, the solvent is highly volatile that makes the solvent elimination process very fast thus difficult to observe. In order to observe in detail the microparticle formation, the initial emulsion was monitored by optical microscope under controlled solvent evaporation conditions. The results from the optical microscopic observations corroborated with laser diffractometry analysis showed that in single emulsion formulations, spherical microparticles are formed by accelerated solvent elimination due to the combined effects of high solvent volatility and polymer precipitation. The solvent expulsion accompanied by important shrinkage generates on the microparticle surface a thin layer of nanoparticles attested by scanning electron microscopy and laser diffractometry. During the intense solvent elimination, the encapsulated substance is drained, affecting the loading efficiency. Furthermore, it will concentrate towards the microparticle surface contributing to the initial burst release. In double emulsion formulations, microparticles with different morphologies are generated due to the presence of the aqueous-phase microdroplets inside the emulsion droplet. During the solvent elimination, these microdroplets generally coalesce under the pressure of the precipitating polymer. Depending mainly on the polymer concentration and emulsification energies, the final microparticles will be a mixture of honeycomb, capsule or plain structure. During the shrinkage due to the incompressibility of the inner microdroplets, the precipitating polymer wall around them may break forming holes through which the encapsulated substance is partly expulsed. Through these holes, the encapsulated substance is further partitioning with the external aqueous phase during solvent evaporation and contributes to the initial burst release during the application.