The TERT variant rs2736100 is associated with colorectal cancer risk.

BACKGROUND: Polymorphic variation at the 5p15.33 (TERT-CLPTM1L) locus is associated with the risk of many cancers but a relationship with colorectal cancer (CRC) risk has yet to be defined. METHODS: We used data from six genome-wide association studies (GWAS) of CRC, linkage disequilibrium mapping and imputation, to examine the relationship between 73 single-nucleotide polymorphisms at 5p15.33 and CRC risk in detail. RESULTS: rs2736100, which localises to intron 2 of TERT, provided the strongest evidence of an association with CRC (P=2.28 × 10⁻4). The association was also shown in an independent series of 10 047 CRC cases and 6918 controls (P=0.02). A meta-analysis of all seven studies (totalling 16 039 cases, 16 430 controls) provided increased evidence of association (P=2.49 × 10⁻5; per allele odds ratio=1.07). The association of rs2736100 on CRC risk was shown to be independent of 15 low-penetrance variants previously identified. CONCLUSION: The rs2736100 association demonstrates an influence of variation at 5p15.33 on CRC risk and further evidence that the 5p15.33 (TERT-CLPTM1L) locus has pleiotropic effects (reflecting generic or lineage-specific effects) on cancer risk.

Laparoscopic resection of colorectal cancer: matched comparison in elderly and younger patients.

BACKGROUND: Several studies have addressed the issue of the feasibility of laparoscopic colorectal surgery in elderly patients, usually by choosing an arbitrary cut-off age limit, and retrospectively evaluating patient outcomes. The aim of this study was to assess the effects of age on the outcome of laparoscopic colorectal surgery for cancer in a single department, by comparing younger and older patients, matched by ASA score and type of operation. METHODS: The perioperative outcome of patients ≥75 years old who underwent laparoscopic colorectal surgery for cancer between June 2005 and January 2009 were compared with findings in younger patients, matched by ASA score and type of operation. RESULTS: The study included 100 patients, fifty <75 years old (Group A) and fifty ≥75 (Group B) years old. There were 18 right hemicolectomies, 16 left hemicolectomies, 4 anterior resections, 9 low anterior resections, 2 Miles' operations and 1 segmental resection in each group. We observed a significantly higher overall morbidity rate among elderly patients than among younger patients (24 vs. 8%). CONCLUSIONS: Short-term results after laparoscopic colorectal surgery for cancer in patients ≥75 years old reveal that they have higher postoperative risk compared to their younger counterparts, even when matched by ASA score and type of operation. It suggests that although advanced age, per se, is not a contraindication, it is a risk for patients who undergo laparoscopic colorectal surgery for cancer. This surgery in elderly patients should be performed by experienced surgeons in specialized centers to keep postoperative risk to a minimum.

Self-generated disorder and structural glass formation in homopolymer globules.

We have investigated the interrelation between spin glasses and structural glasses. Spin glasses in this case are p-spin interaction spin glasses (at p>2) or Potts glasses that contain quenched disorder, whereas the structural glasses are here exemplified by a homopolymeric globule, which can be viewed as a liquid of connected units on a nanoscale. It is argued that the homopolymeric globule problem can be mapped onto a disorder field theoretical model whose effective Hamiltonian resembles the corresponding one for the spin glass model. In this sense the disorder in the globule is self-generated (in contrast to spin glasses) and can be related to competing interactions (virial coefficients of different signs) and the chain connectivity. The work is aimed at giving a quantitative description of this analogy. We have investigated in the mean-field approximation the phase diagram of the homopolymeric globule where the transition line from the liquid to glassy globule is treated in terms of the replica symmetry breaking paradigm. The configurational entropy temperature dependence is also discussed.

Patient-administered tampon-collected genital cells in the assessment of Chlamydia trachomatis infection using polymerase chain reaction.

BACKGROUND: Diagnosis of genital Chlamydia trachomatis infection in women traditionally requires a speculum examination to collect endocervical cells, followed by cell culture. This method is time consuming, requires stringent transport conditions, and is technically demanding. GOALS: To compare tampons as a patient-administered collection method followed by detection with polymerase chain reaction (PCR) with the traditional endocervical swab culture followed by cell culture detection. STUDY DESIGN: At the emergency department of a hospital for obstetrics and gynecology, 1,000 consecutive women with symptoms suggestive of infection with C. trachomatis were tested for C. trachomatis infection by PCR on both tampon (PCR-T) and swab (PCR-S) specimen and by culture of the swab specimen. RESULTS: Seventeen PCR-T and 16 PCR-S specimens were positive; 16 endocervical specimens were positive by culture, and 14 of the endocervical samples were positive by the three methods. Sixty-one PCR-S samples were inadequate as shown by the lack of amplification of the beta-globin gene segment, indicating poor collection of specimens by endocervical swab for chlamydial testing. CONCLUSIONS: Tampon specimens collected for PCR detection provided an easy and sensitive method of detection of C. trachomatis and overcame the obstacle of endocervical sampling and subsequent stringent transport requirements of culture.

[Acute psychosis. Clinical contribution]. / Le psicosi acute. Contributo clinico.

In a vast survey of clinical cases Authors have considered 50 specific cases of acute psychosis corresponding to the following criteria: first stage, lack of organic and caused by drugs disorders, lack of visible affective symptoms. Different social and personal situations have been considered as well as the initial symptoms and the characteristics of the clinical picture. These variations have been correlated to the result and the course of the illness and attention has been drawn to the importance of adaptation before illness, presence of stress elements, very acute initial symptoms, oneiric characteristics of the clinical picture on the positive course. In a further diagnosis only 20 of these cases can be attributed to the schizophreniform disorder and among these 20 the majority develop with relapses, consequences and emotional damages.

[Study of acute psychoses. I. The problem of acute psychoses: nosographic classification]. / Contributo allo studio delle psicosi acute. Parte I--II problema delle psicosi acute: impostazioni nosografiche.

Survey of the first admitted patients for nonorganic and nonaffective acute psychotic decompensation in an Inpatient Treatment Unit, as a part of a Mental HealthCenter, in a General Hospital. Preliminarily the Authors review the concept of "acute psychosis" from Bleuler to Leonhard, Wyrsch, Lanfeldt, the bouffées delirantes of the French literature, the schizophreniform disorder of the DSM III R. The acute psychosis is "a carrefour state" where many types of acute events come together: schizophrenic, affective, reactive. Sometimes, but rarely, acute psychosis is a nosographic unit. This unit needs further evidence.

Bonney's test--fact or fiction?

A prospective urodynamic study in 61 incontinent women assessed the validity of the Bonney test in the diagnosis of true sphincter weakness stress incontinence. The urodynamic findings in all the patients indicated that the Bonney test produced significant increases in the urethral closure pressure and transmission of impulse from the abdomen to the urethra which indicated occlusion of the urethra rather than elevation of the bladder neck. The Bonney test does not differentiate between patients with sphincter weakness and those with bladder instability and therefore should be discarded.

A case of complete testicular feminisation and 47,XXY karyotype.

A very rare case of complete testicular feminisation with a 47,XXY sex chromosome complement is described. The X-chromatin is positive. The subject studied, who belongs to a family in which four other members have Morris's syndrome and have a 46,XY karyotype, is a perfect phenotypic female. The endocrine situation is unique and resembles, in part, that of subjects with Klinefelter's syndrome.

Prolapse of the umbilical cord: a study of 69 cases.

Prolapse of the umbilical cord occurred 69 times in 30112 deliveries. The incidence was higher in abnormal presentations, particularly in compound presentation (11.1%), and in breech presentation (2.9%), especially when these occurred in association with prematurity. Twenty-five (36.2%) of the 69 infants died; 21 of these were dead at the time of diagnosis of cord prolapse, two died in the neonatal period of respiratory distress syndrome, and two died from complications of breech extraction. Reduction in perinatal mortality will be possible only if early diagnosis of cord prolapse can be made by means of vaginal examination or fetal heart monitoring, and the birth trauma associated with difficult vaginal delivery prevented.