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Rare Neurodegenerative Diseases: Clinical and Genetic Update.

Rare Neurodegenerative Diseases: Clinical and Genetic Update. Adv Exp Med Biol. 2017;1031:443-496 Authors: Matilla-Dueñas A, Corral-Juan M, Rodríguez-Palmero Seuma A, Vilas D, Ispierto L, Morais S, Sequeiros J, Alonso I, Volpini V, Serrano-Munuera C, Pintos-Morell G, Álvarez R, Sánchez I Abstract More than 600 human disorders afflict the nervous system. Of these, neurodegenerative diseases are usually characterised by onset in late adulthood, progressive clinical course, and neuronal loss with regional specificity in the central nervous system. They include Alzheimer's disease and other less frequent dementias, brain cancer, degenerative nerve diseases, encephalitis, epilepsy, genetic brain disorders, head and brain malformations, hydrocephalus, stroke, Parkinson's disease, multiple sclerosis, amyotrophic lateral sclerosis (ALS or Lou Gehrig's Disease), Huntington's disease, and Prion diseases, among others. Neurodegeneration usually affects, but is not limited to, the cerebral cortex, intracranial white matter, basal ganglia, thalamus, hypothalamus, brain stem, and cerebellum. Although the majority of neurodegenerative diseases are sporadic, Mendelian inheritance is well documented. Intriguingly, the clinical presentations and neuropathological findings in inherited neurodegenerative forms are often indistinguishable from those of sporadic cases, suggesting that converging genomic signatures and pathophysiologic mechanisms und...
Source: Advances in Experimental Medicine and Biology - Category: Research Tags: Adv Exp Med Biol Source Type: research

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This year Forbes' 30 Under 30 health care honorees are recognized for fighting cancer, designing prosthetic legs and gene editing applications, among other advances. The annual roundup features 600 individuals from 20 different industries, and 10 Bay Area individuals in health care made the list. Genome editing technology CRISPR continues to fuel scientists in the health field. Kunwoo Lee, a scientist at University of California, Berkeley, co-founded GenEdit to use CRISPR components to develop…
Source: bizjournals.com Health Care:Physician Practices headlines - Category: American Health Authors: Source Type: news
Scientists are reporting progress on a blood test to detect many types of cancer at an early stage
Source: ABC News: Health - Category: Consumer Health News Tags: Health Source Type: news
CONCLUSIONS: The most relevant prognostic factor in patients with hepatic colorectal cancer dissemination is the timing of metastasis; the metachronous lesions present better survival when surgically treated. KEY WORDS: Colorectal cancer, Liver, Metastasis, Surgery. PMID: 29339595 [PubMed - in process]
Source: Annali Italiani di Chirurgia - Category: Surgery Tags: Ann Ital Chir Source Type: research
Authors: Rio PD, Viani L, Bertocchi E, Iapichino G, Luzietti E, Dell'Abate P, Sianesi M Abstract AIM: The identification of prognostic factors in gastric cancer is important for predicting patients' survival and determining therapeutic strategies. MATERIALS OF STUDY: A retrospective analysis ofpatients who underwent surgery for gastric cancer between 1996 and 2010. The appropriate cut-off value of tumor size related to survival was determined using receiver-operating characteristic (ROC) curves and it was 2,5 cm. Patients were divided into three groups: a small size group (SSG,
Source: Annali Italiani di Chirurgia - Category: Surgery Tags: Ann Ital Chir Source Type: research
CONCLUSIONS: Perineural invasion is associated with higher stage and poorer survival in surgically treated GBC patients. In patients with locally advanced GBC resection of the extrahepatic biliary duct and frozen section examination of the distal stump must be taken into consideration, especially in cases of tumor arising from the hepatic side of the gallbladder. In cases without residual disease but with pathological evidence of PNI, a careful follow-up is suggested to early detect recurrences. KEY WORDS: Adenocarcinoma, Cancer, Gallbladder, Perineural infiltration, Surgery. PMID: 29339591 [PubMed - in process]
Source: Annali Italiani di Chirurgia - Category: Surgery Tags: Ann Ital Chir Source Type: research
CONCLUSIONS: Major complications after radical resection for rectal cancer are dependent on multiple variables such as male patients, those admitted in emergency and patients with hypoproteinemia. Location of tumor on middle rectum, manual suture of anastomosis, number of lymph nodes> 1 were associated with high rate of morbidity. Patients with coronary heart disease and diabetes mellitus didn't had statistical significance, but the rate of morbidity and mortality remains high in this groups. KEY WORDS: Complications, Radical anterior resection, Rectal cancer, Risk factors. PMID: 29339590 [PubMed - in process]
Source: Annali Italiani di Chirurgia - Category: Surgery Tags: Ann Ital Chir Source Type: research
CONCLUSIONS: Survival for pancreatic head cancer at 3 years is not influenced by the margins of resection (R1/R0). Microscopic resection margin involvement is not an independent marker of survival. KEY WORDS: Circumferential margins, Nonstandardized pathologic protocol, Pancreatic ductal adenocarcinoma, Positive margins R1 Survival. PMID: 29339587 [PubMed - in process]
Source: Annali Italiani di Chirurgia - Category: Surgery Tags: Ann Ital Chir Source Type: research
CONCLUSION: COLA scoring systems predict, with reasonable accuracy, the risk of SSI in rectal cancer patients undergoing elective rectal surgery. KEY WORDS: COLA score Rectal surgery, Surgical site infection, Risk prediction, Wound infection. PMID: 29339586 [PubMed - in process]
Source: Annali Italiani di Chirurgia - Category: Surgery Tags: Ann Ital Chir Source Type: research
CONCLUSIONS: The mean diameter of the jugular veins was 8.7 mm. Internal jugular veins with cylindrical morphology have a diameter smaller than other forms; this difference is statistically significant. The different morphology of the jugular vein confluence does not increase the possibility of a reflux because the positive Valsalva maneuvers are not statistically significant when compared to the various types. KEY WORDS: CCSVI, EchoColorDoppler Map, Jugulo-Subclavian Confluence Diameter. PMID: 29339583 [PubMed - in process]
Source: Annali Italiani di Chirurgia - Category: Surgery Tags: Ann Ital Chir Source Type: research
A U.S. administrative court on Wednesday invalidated a Johnson&Johnson patent on its blockbuster prostate cancer drug Zytiga, bringing rivals closer to selling generic versions.Reuters Health Information
Source: Medscape Medical News Headlines - Category: Consumer Health News Tags: Medscape Today News Source Type: news
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