Human chromosome 16 conservation in primates

A study was made of the organization of the chromosome orthologous to HSA16 in primates using a panel of 8 BAC probes spanning human chromosome 16. The probes were used in FISH experiments on great apes and on representatives of the Old World monkeys, New World monkeys, and lemurs. The domestic cat was used as an outgroup. The results indicate that 16p and 16q were separate chromosomes in a primate ancestor. They fused in a Catarrhini ancestor giving rise to the present day form found in HSA, great apes, and Old World monkeys. Several rearrangements were found in New World monkeys.     

Frequency/amplitude characteristics of postural tremor of the hands in a population of patients with bilateral essential tremor: implications for the classification and mechanism of essential tremor.

Amplitude/frequency characteristics of postural hand tremor in 59 patients with bilateral essential tremor of various degrees of severity were assessed using accelerometric recordings and spectral analysis. Intra-subject comparisons of tremor characteristics between the more and less affected hands were used to control for variability of tremor due to age factors and intersubject differences in amplitude and frequency. Statistical analysis distinguished three different patient groups. Some patients had low amplitude (less than 0.1-0.015 cm) tremor in the less affected limb (which tended to be 7 Hz or more in frequency in the young) and a larger amplitude tremor in the more affected hand which was 1 Hz or more lower in frequency. Other subjects had either bilaterally small or bilaterally large amplitude tremors of similar frequencies. These findings imply that there is a downwards step in frequency between symptomatic tremors of small and large amplitude. The amplitude and frequency of the small amplitude tremors were unrelated but frequency declined with age. The frequency of the large amplitude tremor was generally determined by amplitude but a wide range of amplitudes were compatible with similar frequencies. The frequency of large amplitude tremor also declined with age. It was concluded that there are two types of essential tremor, the smaller amplitude tremor probably derives from an exaggeration of some or all of the mechanisms of normal physiological tremor whereas the larger amplitude tremor probably arises from a separate "pathological" central nervous mechanism. It is not known if or how one may transform into, or be replaced by, the other during progression of the disease.     

Surgery for colorectal cancer guided by radiodetecting probe. Clinical evaluation using monoclonal antibody B72.3.

Radioactive antibodies that react with tumour-associated antigens to "tag" antigen-positive tumour cell deposits were given to 20 patients with primary or recurrent colorectal cancer. The tumour associated antigen TAG 72-specific monoclonal antibody B72.3 labelled with 125-Iodine was used, and the radioactivity in the tumour was sought during operation with a hand-held gamma detecting probe. Tumour was detected by the probe in 7 of 15 patients with primary cancer, with a mean tumour: normal tissue ratio of 3.9, and in 4 of 5 patients with recurrent disease, with a mean tumour: normal tissue ratio of 2.0. Immunohistochemical analysis of surgical specimens confirmed the results of the intraoperative detection. The incidence of TAG 72-positive tumours (11/20, 55%), detected by immunohistochemistry, was lower than the 80% in the other series, possibly because of sampling errors or because the cases studied were uncomplicated with small primary tumours. Results obtained with the probe were instrumental in modifying the operation in two of the four "positive" patients with recurrences, allowing the removal of tumour masses that would otherwise have been overlooked.     

PERCEPTUA.ND LEXICA.ACTORS IN A CAS.F LETTER-BY-LETTER READING

We report the case of a letter-by-letter reader (MJ) who showed normal processing of single letters and who could normally access the orthographic input lexicon when presented with letter names for aural recognition, or when allow ed enough tim e to process a visually presented letter string. However, MJ showed severe difficulties in simultaneously processing multiple letters and other simple visual stimuli. Furthermore, she does not have normal access to lexical orthographic representations and their meanings when stimuli are presented for too brief a time to allow for serial processing of the letter string. We found no evidence of (partial) lexical or semantic access without corresponding recognition of the letters in a word: No signs of implicit reading were observed w hen the input stimuli were controlled for the relevant visual features; “implicit reading” was only obtained under conditions that allowed sophisticated guessing. This pattern of results is interpreted as indicating that LBL reading (at least in MJ) results from damage to prelexical processing mechanisms. In MJ's case, the deficit reflects the degraded transfer of information from a normal visual processing system in the right hemisphere to a normal language processing system in the left hemisphere.     

Real world experience with teriflunomide in multiple sclerosis: the TER-Italy study

Journal of Neurology - To identify baseline factors associated with disease activity in patients with relapsing–remitting multiple sclerosis (RRMS) under teriflunomide treatment. This was an...     

Human papillomavirus infection and cervical intraepithelial neoplasia in dialyzed patients

Human papillomavirus (HPV) infection is a risk factor for the development of cervical intraepithelial neoplasia (CIN). The incidence of certain cancers such as HPV-associated CIN is higher among dialysis patients than in the general population. In the literature there are few studies on the prevalence of HPV infection among dialyzed women and almost all of these studies concerned women with positive Pap smears. We enrolled 73 hemodialyzed women attending our center from January 2009 to December 2010; 29 denied informed consent and 44 underwent Pap tests and cervical curettage for HPV (mean age 62 ± 15 years). We found HPV positivity in 6 women (prevalence 13.6%). The prevalence of CIN in our sample was also 13.6% (6/44), 83.3% of which HPV related. Since cervical curettage for HPV is a cheap and easy to perform test with high specificity and sensitivity, we believe it is worthwhile including it in the pre-transplant workup of such women to lower the incidence of CIN in dialyzed patients and transplant recipients.     

Microsatellite and RAS/RAF Mutational Status as Prognostic Factors in Colorectal Peritoneal Metastases Treated with Cytoreductive Surgery and Hyperthermic Intraperitoneal Chemotherapy (HIPEC)

Background

Cytoreductive surgery (CRS) with hyperthermic intraperitoneal chemotherapy (HIPEC) leads to prolonged survival for selected patients with colorectal (CRC) peritoneal metastases (PM). This study aimed to analyze the prognostic role of micro-satellite (MS) status and RAS/RAF mutations for patients treated with CRS.

Methods

Data were collected from 13 Italian centers with PM expertise within a collaborative group of the Italian Society of Surgical Oncology. Clinical and pathologic variables and KRAS/NRAS/BRAF mutational and MS status were correlated with overall survival (OS) and disease-free survival (DFS).

Results

The study enrolled 437 patients treated with CRS-HIPEC. The median OS was 42.3 months [95% confidence interval (CI), 33.4–51.2 months], and the median DFS was 13.6 months (95% CI, 12.3–14.9 months). The local (peritoneal) DFS was 20.5 months (95% CI, 16.4–24.6 months). In addition to the known clinical factors, KRAS mutations (p = 0.005), BRAF mutations (p = 0.01), and MS status (p = 0.04) were related to survival. The KRAS- and BRAF-mutated patients had a shorter survival than the wild-type (WT) patients (5-year OS, 29.4% and 26.8% vs 51.5%, respectively). The patients with micro-satellite instability (MSI) had a longer survival than the patients with micro-satellite stability (MSS) (5-year OS, 58.3% vs 36.7%). The MSI/WT patients had the best prognosis. The MSS/WT and MSI/mutated patients had similar survivals, whereas the MSS/mutated patients showed the worst prognosis (5-year OS, 70.6%, 48.1%, 23.4%; p = 0.0001). In the multivariable analysis, OS was related to the Peritoneal Cancer Index [hazard ratio (HR), 1.05 per point], completeness of cytoreduction (CC) score (HR, 2.8), N status (HR, 1.6), signet-ring (HR, 2.4), MSI/WT (HR, 0.5), and MSS/WT-MSI/mutation (HR, 0.4). Similar results were obtained for DFS.

Conclusion

For patients affected by CRC-PM who are eligible for CRS, clinical and pathologic criteria need to be integrated with molecular features (KRAS/BRAF mutation). Micro-satellite status should be strongly considered because MSI confers a survival advantage over MSS, even for mutated patients.

     

Characterisation of microsatellite markers in the stone curlew Burhinus oedicnemus

We characterized twenty unique polymorphic microsatellite loci in the Eurasian stone curlew Burhinus oedicnemus, a bird of conservation concern in Europe. The loci were genotyped in 24 individuals and displayed between 2 and 21 alleles per locus. All twenty loci were autosomal based on the genotyping of individuals of known sex and seventeen loci were in Hardy–Weinberg equilibrium. These microsatellites will be used to investigate population structure in this species with the aim of informing those responsible for creating conservation management strategies.