The study shows a deficit in elementary frontal cognitive processes in PWS patients. This deficit may be involved in the social behaviour disorders that characterize such patients, as described in other development or frontal syndrome pathologies. However, we cannot affirm that the deficits found are specific to PWS; they could also occur in other causes of intellectual disability. Although in the study sample IQ did not correlate with frontal deficits, further research is needed to establish whether the neuropsychological alterations described form part of a cognitive phenotype for PWS. We believe that our understanding of the social behaviours typical of PWS may be improved by taking into consideration the cognitive functioning models of the prefrontal lobe, particularly those applied to pervasive developmental disorders.
Preliminary evidence indicates some cognitive deficits in both SS and migraine following a pattern of fronto-subcortical dysfunction without a significant cognitive decline over time.
Fifty-five percent of patients with GD have associated NAFLD. Awareness of this association may result in an earlier diagnosis. The high prevalence of NAFLD in patients with GD may justify routine liver biopsy during cholecystectomy to establish the diagnosis, stage, and possible direct therapy.
Background: Characterisation of molecular alterations of pleomorphic lobular carcinoma (PLC), an aggressive subtype of invasive lobular carcinoma (ILC), have not been yet completely accomplished. Methods: To investigate the molecular alterations of invasive lobular carcinoma with pleomorphic features, a total of 39 tumour samples (in situ and invasive lesions and lymph node metastases) from 27 patients with nuclear grade 3 invasive lobular carcinomas were subjected to morphological, immunohistochemical and massive parallel sequencing analyses. Results: Our observations indicated that invasive lobular carcinomas with pleomorphic features were morphologically and molecularly heterogeneous. All cases showed absence or aberrant expression of E-cadherin and abnormal expression of β-catenin and p120. CDH1 (89%), PIK3CA (33%) and ERRB2 (26%) were the most common mutated genes. ERBB2 mutations preferentially affected the tyrosine-kinase activity domain, being the most frequent the targetable mutation p.L755S (57%). We also observed higher frequency of mutations in ARID1B, KMT2C, MAP3K1, TP53 and ARID1A in PLC than previously reported in classic ILC. Alterations related to progression from in situ to invasive carcinoma and/or to lymph node metastases included TP53 mutation, amplification of PIK3CA and CCND1 and loss of ARID1A expression. Conclusions: The high frequency of ERBB2 mutations observed suggests that ERBB2 mutation testing should be considered in all invasive lobular carcinomas with nuclear grade 3.
The purpose of this study is to analyze the effect of pregabalin (PGB) on pain alleviation, use of health care and non-health care resources, and associated costs in patients with trigeminal neuralgia under usual clinical practice in primary care settings. Sixty-five PGB-naïve patients receiving PGB as monotherapy (n = 36, 55%) or combined with other drugs (n = 29, 45%) fulfill criteria for inclusion in a secondary analysis from a 12-week, multicenter, observational prospective study aimed to ascertain the cost of illness in subjects with neuropathic pain. Pain is evaluated using the Short Form McGill Pain Questionnaire. Use of health care and non-health care resources and lost workdays equivalents (LWDEs) are also recorded. PGB significantly reduces pain scores, use of health care resources (ancillary tests and unscheduled medical visits), and number of LWDEs. Additional cost of PGB treatment (+euro 174 +/- 106) is broadly compensated for by a reduction in both health care costs (-euro 621 +/-1211, P < .001) and indirect costs (-euro 1210 +/- 1141, P < .001). It is concluded that PGB as monotherapy or combined with other drugs is effective in pain management in patients with trigeminal neuralgia and reduces the cost of illness.
Effects of pregabalin (PGB) on patient-reported health outcomes were assessed in 65 PGB-naive subjects with trigeminal neuralgia refractory to previous analgesic therapy in a prospective, multicentre observational study carried out in primary care. Twelve weeks' monotherapy with PGB (n = 36) or add-on (n = 29), reduced baseline intensity of pain by a mean +/- S.D. of -40.0 +/- 22.1 mm [-55.4%, effect size (ES) 2.32; P < 0.0001] with 59.4% of responders (pain reduction >or= 50%), and produced 34.6 +/- 29.3 additional days with no/mild pain. Anxiety/depression symptoms decreased by -3.8 +/- 3.5 and -4.5 +/- 4.2 points (ES 0.95 and 1.02; P < 0.0001), respectively. PGB improved sleep by -17.9 +/- 19.6 points (ES 1.18; P < 0.0001) and improved patient functioning (Sheehan Disability Index) by decreasing overall scoring by -8.6 +/- 5.9 points (ES 1.59; P < 0.0001). Health state (EQ-5D) increased by 31.6 +/- 22.2 mm (ES 1.67; P < 0.0001), with 0.0388 +/- 0.0374 gained quality-adjusted life-years. In spite of the small sample size, results support the effectiveness of PGB for the improvement in pain and related health symptoms.
Background:The 5-year survival rate of patients with pancreatic ductal adenocarcinoma (PDAC) is around 5% due to the fact that the majority of patients present with advanced disease that is treatment resistant. Familial pancreatic cancer (FPC) is a rare disorder that is defined as a family with at least two affected first degree relatives, with an estimated incidence of 4%À10%. The genetic basis is unknown in the majority of families although around 10%À13% of families carry germline mutations in known genes associated with hereditary cancer and pancreatitis syndromes. Methods: Panel sequencing was performed of 35 genes associated with hereditary cancer in 43 PDAC cases from families with an apparent hereditary pancreatic cancer syndrome. Findings: Pathogenic variants were identified in 19% (5/26) of PDAC cases from pure FPC families in the genes MLH1, CDKN2A, POLQ and FANCM. Low frequency potentially pathogenic VUS were also identified in 35% (9/26) of PDAC cases from FPC families in the genes FANCC, MLH1, PMS2, CFTR, APC and MUTYH. Furthermore, an important proportion of PDAC cases harboured more than one pathogenic, likely pathogenic or potentially pathogenic VUS, highlighting the multigene phenotype of FPC. Interpretation: The genetic basis of familial or hereditary pancreatic cancer can be explained in 21% of families by previously described hereditary cancer genes. Low frequency variants in other DNA repair genes are also present in 35% of families which may contribute to the risk of pancreatic cancer development. Funding: This study was funded by the Instituto de Salud Carlos III (Plan Estatal de I + D + i 2013À2016): ISCIII (PI09/02221, PI12/01635, PI15/02101 and PI18/1034) and co-financed by the European Development Regional Fund ''A way to achieve Europe'' (ERDF), the Biomedical Research Network in Cancer: CIBERONC (CB16/12/00446), Red Tem atica de investigaci on cooperativa en c ancer: RTICC (RD12/0036/0073) and La Asociaci on Española contra el C ancer: AECC (Grupos Coordinados Estables 2016).
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