"Sporadic disease" from_date:2012

CSF proteomics in autosomal dominant Alzheimer's disease highlights parallels with sporadic disease. Autosomal dominant Alzheimer's disease (ADAD) offers a unique opportunity to study pathophysiological changes in a relatively young population with few comorbidities. A comprehensive investigation of proteome changes occurring in ADAD could provide valuable insights into AD-related biological

Medullary Thyroid Carcinoma: Survival Analysis and Evaluation of Mutation-Specific Immunohistochemistry in Detection of Sporadic Disease. Medullary thyroid cancer (MTC) is a rare tumour of neuroendocrine origin with a more aggressive profile than differentiated thyroid cancer. Familial cases of MTC are associated with RET mutations whilst RAS mutations appear to be a frequent finding in RET negative tumours. The aims of this study were to analyse survival outcomes in MTC and to evaluate the role of RAS immunohistochemistry in the identification of sporadic disease. A retrospective cohort study of consecutive patients with MTC was undertaken. The primary outcome measures were overall survival and disease-free survival. Survival analysis was performed on the basis of sporadic and familial

Familial Syndromes Involving Meningiomas Provide Mechanistic Insight Into Sporadic Disease Currently, there is an incomplete understanding of the molecular pathogenesis of meningiomas, the most common primary brain tumor. Several familial syndromes are characterized by increased meningioma risk, and the genetics of these syndromes provides mechanistic insight into sporadic disease. The best . The genetic mutations, molecular pathway derangements, and relationship to sporadic disease for each syndrome are described in detail to identify targets for further investigation. Familial syndromes characterized by meningiomas often affect genes and pathways that are also implicated in a subset of sporadic cases, suggesting key molecular targets for therapeutic intervention. Further studies are needed

Correlation of the venous angioarchitecture of multiple cerebral cavernous malformations with familial or sporadic disease: a susceptibility-weighted imaging study with 7-Tesla MRI. OBJECTIVE Multiple cerebral cavernous malformations (CCMs) are rare lesions that occur in sporadic or familial form. Depending on the disease form, the natural history and treatment of the lesions strongly vary

Comparative analysis of C9orf72 and sporadic disease in an ALS clinic population. We investigated whether the C9orf72 expansion mutation in patients with amyotrophic lateral sclerosis (ALS) is associated with unique demographic and clinical features. Between 2001 and 2015, approximately half of all patients attending the Emory ALS Clinic agreed to donate DNA for research. This research cohort

Functional Genomic Analyses of Mendelian and Sporadic Disease Identify Impaired eIF2α Signaling as a Generalizable Mechanism for Dystonia Dystonia is a brain disorder causing involuntary, often painful movements. Apart from a role for dopamine deficiency in some forms, the cellular mechanisms underlying most dystonias are currently unknown. Here, we discover a role for deficient eIF2α signaling

and pneumococcal disease epidemics, in the absence of clinical recovery, empiric treatment can be extended, and further diagnostic investigations should be performed. xixExecutive summaryPost-exposure antimicrobial prophylaxisStrong recommendation for In the presence of sporadic disease, antibiotic prophylaxis with single-dose parenteral ceftriaxone or oral ciprofloxacin should be provided to close contacts

of the proposed tests. The final findings stem from the triangulation of the scientific data, the positions of the main learned societies consulted, and the contextual data and experiential knowledge that was gathered. Clinical contexts and proposed tests Cancer in children is generally considered a rare and sporadic disease. According to the Registre québécois du cancer, 291 new cases of pediatric cancer were

most commonly diagnosed cancer in both men and women.Estimated new cases and deaths from CRC in 2022 in the United States:[1]New cases: 151,030.Deaths: 52,580.About 75% of patients with CRC have sporadic disease with no apparent evidence of having inherited the disorder. The remaining 10% to 30% of patients have a family history of CRC that suggests a hereditary contribution, common exposures

is a tumor that occurs in heritable (25%–30%) and nonheritable (70%–75%) forms. Heritable disease is defined by the presence of a germline mutation of the RB1 gene. This germline mutation may have been inherited from an affected progenitor (25% of cases) or may have occurred in a germ cell before conception or in utero during early embryogenesis in patients with sporadic disease (75% of cases

- <1 43.0 UnknownTMEM127 - <2 42.8 UnknownMAX [4] - <2 34 UnknownUnknown Carney triad <1 27.5 -SDHB, C, D Carney-Stratakis <1 33 UnknownMEN1 MEN1 <1 30.5 UnknownNo mutation Sporadic disease 70 48.3 -Genetic factors and syndromes associated with an increased risk of pheochromocytoma and paraganglioma include the following:von Hippel-Lindau (VHL) disease: Pheochromocytoma and paraganglioma occur in 10

the Database of Genotypes and Phenotypes were analyzed using identical methods. We filtered the data to select large genic CNVs that were detected by multiple algorithms. Findings were replicated in a BAV cohort with late onset sporadic disease (n = 5040). We identified 3 large and rare (< 1,1000 in controls) CNVs in EBAV probands. The burden of CNVs intersecting with genes known to cause BAV when mutated

the groups.Three other studies investigated the outcome of BCT in BRCA mutation carriers after BCS and RT. With > 13-year overall median follow-up, Kirova et al57 found no significant difference in rates of ipsilateral cancer between mutation carriers (n = 27), familial cases found to be noncarriers (n = 104), and controls with sporadic disease (n = 261) in a matched retrospective case-control study. However

and limited sample availability. Defects in PCP organization may play a major role in the pathogenesis of YNS. To the authors' knowledge, this is the first demonstration of a mechanism explaining YNS development, mainly in its congenital form but also in patients with sporadic disease. The Prof. Baum Research Fund of Israel Lung Association.