Genome sequencing and implications for rare disorders

The practice of genomic medicine stands to revolutionize our approach to medical care, and to realize this goal will require discovery of the relationship between rare variation at each of the ~  20,000 protein...
Source: Orphanet Journal of Rare Diseases - Category: Internal Medicine Authors: Tags: Review Source Type: research

Related Links:

Introduction and Objectives: Penile carcinoma is a rare disease that accounts for 0.3% to 0.5% of malignancies among men in the United States. Studies have identified several risk factors for this malignancy, which include phimosis, tobacco use, HPV, advanced age, sexual history and ethnicity. However, few studies have assessed the overall incidence and temporal trends of this disease in Western countries. The purpose of this study is to gain insight on the epidemiology of penile squamous cell carcinoma (SCC) in Canada and to identify areas of geographical clustering for this disease.
Source: Journal of the American Academy of Dermatology - Category: Dermatology Source Type: research
We report a case of an obese 56 year old woman who presented with a sudden unexplained progression of swelling in the neck and upper thorax region associated by severe dyspnea. She was admitted with angioedema, and radiology images identified a bilateral adipose degeneration of the parotid and minor salivary glands. Several medical specialists were consulted regarding differential diagnoses such as Cushing's syndrome, but ultimately diagnosed Type 1 Madelung Disease. The patient will be kept under periodic observation and if any deterioration takes place, surgical intervention will be taken under consideration. Despite no ...
Source: British Journal of Biomedical Science - Category: Laboratory Medicine Tags: Br J Biomed Sci Source Type: research
In this study, blood samples extracted by venipuncture from 30 healthy volunteers were used to obtain DNA from buffy coat and whole blood. The purity and integrity of the nucleic acids obtained were assessed by spectrophotometry, fluorimetry, and agarose electrophoresis, and functionality was assessed by PCR and real-time PCR. Another aspect tested in this study was based on the comparison between short-term and long-term storage at -80°C and fresh samples from both matrices to evaluate the storage conditions at the biobank. Results showed differences in the yield obtained from both matrices as a function of the storag...
Source: Biopreservation and Biobanking - Category: Biomedical Science Tags: Biopreserv Biobank Source Type: research
This article gives an overview of the variety of these challenging conditions (including developmental hip dysplasia, osteopetrosis, skeletal dysplasia, Paget's disease and extraarticular deformities) and with a selection of complex cases it should give the reader some thought-provoking impulses considering the management of complex primary THA cases. This includes with the choice of implant, intraoperative characteristics, certain pitfalls and postoperative considerations alike. As a result, it should minimize the risk for complications in these complex cases without minimizing the patient's expectations in a nearly norma...
Source: Zeitschrift fur Orthopadie und Unfallchirurgie - Category: Orthopaedics Tags: Z Orthop Unfall Source Type: research
Date: Tuesday, 09 24, 2019; Speaker: Joshua Gagne, Pharm.D., Sc.D., Associate Professor, Division of Pharmacoepidemiology and Pharmacoeconomics, Harvard T.H. Chan School of Public Health; Webinar; https://epi.grants.cancer.gov/events/rare-cancer/i
Source: NIH Calendar of Events - Category: American Health Source Type: events
Authors: Zhao P, Zhou Y, Li J Abstract OBJECTIVE: To retrospectively study the primary laryngeal lymphoma cases in China reported in Chinese-language literature. METHOD: Chinese-language literature was searched for papers on primary laryngeal lymphoma published in the last 25 years. RESULTS: The selected papers comprised a total of 115 cases. The male-to-female ratio was 3.4:1. Non-Hodgkin's lymphoma was the exclusive pathological type. The estimated 3-year, 5-year and 10-year survival rates were 70.9 ± 6.4 per cent, 63.4 ± 7.6 per cent and 56.4 ± 9.5 per cent respectively, as determine...
Source: Journal of Laryngology and Otology - Category: ENT & OMF Tags: J Laryngol Otol Source Type: research
Peritoneal carcinomatosis (PC) is a rare disease defined as diffused implantation of neoplastic cells in the peritoneal cavity. This clinical picture occurs during the evolution of peritoneal tumors, and it is the main cause of morbidity and mortality of patients affected by these pathologies, though cytoreductive surgery with heated intra-peritoneal chemotherapy (CRS/HIPEC) is yielding promising results. In the present study, we evaluated whether the tumor microenvironment of low-grade and high-grade PC could affect the phenotypic and functional features and thus the anti-tumor potential of NK cells. We show that while i...
Source: Frontiers in Immunology - Category: Allergy & Immunology Source Type: research
ConclusionHemiplegic spontaneous cervical EDH occurs very rarely. It is often misdiagnosed as ischemic stroke and is likely to be administered with thrombolytic agents, making the patient's symptoms worse. Early diagnosis and rapid management of cervical EDH increase the likelihood of complete recovery of the patient's symptoms. Therefore, if there are unilateral weakness and neck pain without cranial nerve dysfunction and there is no evidence of stroke in the brain imaging, spinal EDH should be considered.
Source: Interdisciplinary Neurosurgery - Category: Neurosurgery Source Type: research
Sirolimus has been confirmed to be effective for lymphangioleiomyomatosis (LAM), a rare multisystem neoplastic disease in women. The long-term effects of sirolimus treatment for LAM, however, are largely unkno...
Source: Orphanet Journal of Rare Diseases - Category: Internal Medicine Authors: Tags: Research Source Type: research
Clinical care guidelines are typically developed by clinicians and researchers. Including patient and caregiver voices in guideline development may help create guidelines that are more useful for patients and ...
Source: Orphanet Journal of Rare Diseases - Category: Internal Medicine Authors: Tags: Research Source Type: research
More News: Internal Medicine | Rare Diseases