Mapping of the second locus for the Van der Woude syndrome to chromosome 1p34.

The Van der Woude syndrome (VWS) is a dominantly inherited developmental disorder characterized by pits and/or sinuses of the lower lip, cleft lip and/or cleft palate. It is the most common cleft syndrome. VWS has shown remarkable genetic homogeneity in all populations, and so far, all families reported have been linked to 1q32-q41. A large Finnish pedigree with VWS was recently found to be unlinked to 1q32-q41. In order to map the disease locus in this family, a genome wide linkage scan was performed. A maximum lod score of 3.18 was obtained with the marker D1S2797, thus assigning the disease locus to chromosomal region 1p34. By analyses of meiotic recombinants an approximately 30 cM region of shared haplotypes was identified. The results confirm the heterogeneity of the VWS syndrome, and they place the second disease locus in 1p34. This finding has a special interest because the phenotype in VWS closely resembles the phenotype in non-syndromic forms of cleft lip and palate.     

Cytochrome P4501A2 (CYP1A2) activity and lung cancer risk: a preliminary study among Chinese women in Singapore

There is increasing evidence for the role of heterocyclic and other arylamines in carcinogenesis, including lung carcinogenesis. Chinese women have a high rate of lung cancer despite a low smoking prevalence, and studies in this population may provide useful information on risk factors other than smoking. Hepatic CYP1A2 and NAT2 are involved in the metabolism of carcinogenic arylamines, and NAT2 also catalyzes the detoxification pathway for these compounds. In this study, we examined the effect of CYP1A2 activity using a urinary caffeine metabolic ratio assay for 54 Chinese women with newly diagnosed lung cancer (including 28 adenocarcinomas) and 174 hospital controls. Among them, NAT2 genotype was available for 47 cases and 98 controls. There was no effect of CYP1A2 activity on overall risk of lung cancer in the study population [odds ratio (OR) 0.8, 95% confidence interval (CI) 0.4-1.6, adjusted for age at diagnosis, smoking and cruciferous vegetable intake]. For adenocarcinomas, the OR was 1.5, 95% CI 0.6-3.4. After further adjustment for NAT2 acetylator genotype, the OR for adenocarcinoma was 1.8 (95% CI 0.7-4.8). When the combined NAT2/CYP1A2 status was examined, women with slow NAT2 and rapid CYP1A2 activity were at highest risk (adjusted OR 6.9, 95% CI 1.3-37.6) relative to women with rapid NAT2 and slow CYP1A2 activity, for lung adenocarcinoma. While larger studies are needed to confirm or refute these results, they are consistent with a role for heterocyclic arylamines in lung carcinogenesis in this primarily non-smoking population.     

Paradigm shift in gastrointestinal surgery − combating sarcopenia with prehabilitation: Multimodal review of clinical and scientific data

A growing body of evidence has demonstrated the prognostic significance of sarcopenia in surgical patients as an independent predictor of postoperative complications and outcomes. These included an increased risk of total complications, major complications, re-admissions, infections, severe infections, 30 d mortality, longer hospital stay and increased hospitalization expenditures. A program to enhance recovery after surgery was meant to address these complications; however, compliance to the program since its introduction has been less than ideal. Over the last decade, the concept of prehabilitation, or “pre-surgery rehabilitation”, has been discussed. The presurgical period represents a window of opportunity to boost and optimize the health of an individual, providing a compensatory “buffer” for the imminent reduction in physiological reserve post-surgery. Initial results have been promising. We review the literature to critically review the utility of prehabilitation, not just in the clinical realm, but also in the scientific realm, with a resource management point-of-view.     

Selecting an optimal prognostic system for liver cirrhosis: the model for end‐stage liver disease and beyond

In comparison with the Child–Turcotte–Pugh (CTP) system, recent studies suggested that the model for end‐stage liver disease (MELD) may more accurately predict the survival for patients with cirrhosis. In the US, the liver allocation system was changed in 2002 from a status‐based algorithm utilizing CTP scores to one using continuous MELD severity scores as a reference system in prioritizing adult patients on the waiting list. Direct evidence that demonstrates the benefits of MELD is the fact that the mortality rates of transplant candidates on the waiting list have remarkably decreased after the implementation of the MELD. The MELD score is closely associated with the degree of portal hypertension as reflected by the hepatic venous pressure gradient. Hyponatraemia occurs as a result of advanced cirrhosis, and a serum sodium (Na) level <126 mEq/L at the time of listing for transplantation is a strong independent predictor of mortality. Several MELD‐derived prognostic models that incorporate serum Na into calculation have been proposed in the hopes of further improving the MELD's prognostic accuracy. Additionally, serum parameters such as creatinine and international normalized ratio are subject to interlaboratory variations and may need unifying standardizations. Patients with refractory complications of cirrhosis may need a priority MELD score to prioritize them on the waiting list. Appropriate modifications and the fine‐tuning of the MELD based on well‐designed prospective studies are necessary in solving the current controversial issues.     

Regular folding in solution-grown polyethylene crystal, 1. Model description

To re-consider the idea that a polymer chain should fold regularly rather than randomly, the pair s-chain crystalline growth philosophy was suggested. On the basis of this philosophy, the coordinated pair chain folding model (CPCFM) for polyethylene (PE) polymer single crystal is proposed, with the paired chain folding on average along the (110) plane of the orthorhombic crystal lattice and each of the coordinated pair chains folding alternatively at (100) and (010) planes. Being a regular folding model, the CPCFM explains most of the regular shapes of PE single crystals including lamellar diamond shape, flat based and non-flat based hollow pyramidal shapes, saddle shape, truncated diamond shape as well as twin crystal via either the single-chain nucleus or the two-chain nucleus. The folding conformation energies for the folds in a CPCFM are lower than those for conventional adjacent (110) folds. The configuration and conformation mentioned above, together with other evidences, discussed in part 2 of this series and an earlier communication make the CPCFM an acceptable regular folding model.     

Recurrent papilloedema and early onset optic atrophy in Beh?et's syndrome.

Two patients with Behçet''s syndrome and intracranial hypertension are reported. One developed a recurrence of papilloedema while receiving treatment but eventually made a full recovery, whereas the other developed optic atrophy within three months of onset despite treatment.