Search results for " early onset"

showing 5 items of 5 documents

Congenital muscular dystrophy: from muscle to brain.

2016

Congenital muscular dystrophies (CMDs) are a wide group of muscular disorders that manifest with very early onset of muscular weakness, sometime associated to severe brain involvement. The histologic pattern of muscle anomalies is typical of dystrophic lesions but quite variable depending on the different stages and on the severity of the disorder. Recent classification of CMDs have been reported most of which based on the combination of clinical, biochemical, molecular and genetic findings, but genotype/phenotype correlation are in constant progression due to more diffuse utilization of the molecular analysis. In this article, the Authors report on CMDs belonging to the group of dystroglyc…

0301 basic medicinePediatricsmedicine.medical_specialtyMuscle-eye-brain diseaseMuscular dystrophiesDiseaseReviewSeverity of Illness IndexNODiagnosis Differential03 medical and health sciencesMuscular dystrophie0302 clinical medicineBrain involvement; Congenital muscle diseases; Fukuyama congenital muscular dystrophy; Muscle-eye-brain disease; Muscular dystrophies; Walker-Warburg syndrome;Fukuyama congenital muscular dystrophySeverity of illnessmedicineHumansFukuyama congenital muscular dystrophyBrain involvement; Congenital muscle diseaseWalker–Warburg syndromeCongenital muscle diseasesWalker-Warburg syndromebusiness.industryInfant NewbornBrainmedicine.diseaseVery early onsetMolecular analysis030104 developmental biologyClinical diagnosisCongenital muscle diseaseCongenital muscular dystrophyPhysical therapybusinessBrain involvement030217 neurology & neurosurgery
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Early onset ONJ in patient treated with denosumab and bevacizumab: case report

2016

ONJ early onset denosumab bevacizumabSettore MED/28 - Malattie Odontostomatologiche
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Germline loss-of-function variants in the BARD1 gene are associated with early-onset familial breast cancer but not ovarian cancer

2019

Background The role of the BARD1 gene in breast cancer (BC) and ovarian cancer (OC) predisposition remains elusive, as published case-control investigations have revealed controversial results. We aimed to assess the role of deleterious BARD1 germline variants in BC/OC predisposition in a sample of 4920 BRCA1/2-negative female BC/OC index patients of the German Consortium for Hereditary Breast and Ovarian Cancer (GC-HBOC). Methods A total of 4469 female index patients with BC, 451 index patients with OC, and 2767 geographically matched female control individuals were screened for loss-of-function (LoF) mutations and potentially damaging rare missense variants in BARD1. All patients met the …

OncologyGermline0302 clinical medicineLoss of Function MutationSurgical oncologyOdds RatioPrevalenceMissense mutation030212 general & internal medicineAge of Onset10. No inequalityExomeEarly onset breast cancerAged 80 and overOvarian NeoplasmsBARD1 GeneHigh-Throughput Nucleotide SequencingMiddle Agedlcsh:Neoplasms. Tumors. Oncology. Including cancer and carcinogens3. Good health030220 oncology & carcinogenesisFemaleTechnology PlatformsResearch ArticleAdultmedicine.medical_specialtyAdolescentUbiquitin-Protein Ligases610Breast Neoplasmslcsh:RC254-282Young Adult03 medical and health sciencesGermline mutationBreast cancerOvarian cancerInternal medicinemedicineBARD1HumansGenetic Predisposition to DiseaseGermline mutationsGenetic Association StudiesGerm-Line MutationAgedbusiness.industryTumor Suppressor ProteinsOdds ratiomedicine.diseaseConfidence intervalBARD1; Early onset breast cancer; Germline mutations; Ovarian cancerOvarian cancerbusiness
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Commentary: Anderson‐Fabry Disease: A Rare Cause of Levodopa‐Responsive Early Onset Parkinsonism

2021

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Pediatricsmedicine.medical_specialtyLevodopaAnderson-Fabry DiseaseNeurologybusiness.industrymedicineAnderson-Fabry disease early onset parkinsonism levodopa response lysosomal storage diseasesNeurology (clinical)Early onset parkinsonismbusinessCase Reports and Commentariesmedicine.drugMovement Disorders Clinical Practice
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Anderson‐Fabry Disease: A Rare Cause of Levodopa‐Responsive Early‐Onset Parkinsonism

2021

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medicine.medical_specialtyLevodopabusiness.industryEarly onset parkinsonismGastroenterologyAnderson-Fabry DiseaseNeurologyInternal medicinemedicineAnderson-Fabry disease early onset parkinsonism levodopa response lysosomal storage diseasesSettore MED/26 - NeurologiaNeurology (clinical)businessCase Reports and Commentariesmedicine.drugMovement Disorders Clinical Practice
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