Search results for " onset"

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 …

Age at diagnosis is an important prognostic factor in Philadelphia-negative Myeloproliferative Neoplasms

2019

Dosing fentanyl buccal tablet for breakthrough cancer pain: dose titration versus proportional doses.

2012

Abstract OBJECTIVES: The aim of this study was to compare the efficacy and safety of doses of fentanyl buccal tablet (FBT) proportional to doses of opioids used for background analgesia versus dose titration starting with the minimal dose for the management of breakthrough cancer pain (BTcP). METHODS: A total of 82 cancer patients with BTcP who were receiving strong opioids in doses of at least 60 mg of oral morphine equivalents and having acceptable background analgesia, were selected for a multicenter unblinded study. Forty-one patients were randomized to receive FBT in doses proportional to the daily opioid doses for four consecutive episodes of BTcP (group P). Forty-one patients underwe…

Increased Frequency of Migraine in Narcoleptic Patients: A Confirmatory Study

2003

Previously we have reported an increased prevalence of migraine in narcoleptic patients. Because of the theoretical and clinical implications of this finding we recruited an independent new study sample of 100 patients with proven narcolepsy and conducted a structured 26-item interview based on the international diagnostic criteria for headache disorders, the Kiel Headache Questionnaire. Narcolepsy symptoms were measured by means of the Stanford Centre for Narcolepsy Sleep Inventory. Migraine prevalence was twofold to fourfold increased in the narcoleptic patients and amounted to 44.4% in women and 28.3% in men. The onset of narcolepsy symptoms was 12.3 ± 11.4 years before the onset of mig…

Epigenetics in spine curvature disorders

2022

Abstract Scoliosis is a three-dimensional (3D) structural deformity of the spine with a radiological lateral Cobb angle of ≥ 10°. Several classification systems exist, dividing different types regarding the age of onset or the type of etiology. The minority of cases are secondary to congenital, syndromic of neuromosucular diseases. Most of the cases are classified “idiopathic” due to unknown etiology. These were formally divided by the age of onset into “Infantile Idiopathic Scoliosis” (0–3 years), “Juvenile Idiopathic Scoliosis” (JIS—4–10 years), and “Adolescent Idiopathic Scoliosis” (AIS → 10 years). Since the initiative of the Scoliosis Research Society in 2014 all kind of scoliosis with…

Mucopolysaccharidosis Type VII (Sly disease) survivors

2013

treatment. Onset of neurological symptoms at age 8 and in adolescence. Pair 4: L.M. died at age 5 months due to liver failure. P.M. (7 years): earlyinfantile form, despite treatment start at age 2 progressive neurological deterioration. Pair 5: R.K.: late-infantile form, untreated, died at age 9 due to progressive neurological involvement. M.K.: late infantileform, start of treatment at age 5, died at age 13 due to epileptic encephalopathy. These cases reveal that disease onset and progression in siblings with NPC vary, and that miglustat can slow disease progression.

Clinical and Genetic Aspects of Juvenile Onset Pompe Disease

2021

AbstractLittle is known about clinical symptomatology and genetics of juvenile onset Pompe disease (JOPD). The aims of this study were to analyze how these children are diagnosed, what clinical problems they have, and how phenotype is related to genotype. To accomplish this, we analyzed retrospectively data of 34 patients diagnosed after their first and before completion of their 18th birthday. Median age at diagnosis was 3.9 (range 1.1–17) years. Eight patients (23.5%) developed initial symptoms in the first year, 12 (35%) between 1 and 7 years, and 6 (18%) thereafter. Eight (23.5%) had no clinical symptoms at the time of diagnosis. Indications for diagnostics were a positive family histor…

The Prevalence of Glaucoma in Young People.

2017

BACKGROUND Earlier information on the prevalence of glaucoma among children in Germany was based solely on estimates. Reported values for congenital glaucoma range from 1 in 10 000 to 1 in 68 000 depending on ethnic origin. The estimate for juvenile glaucoma is 1 in 44 000. METHODS The Gutenberg Health Study is a populationbased, prospective, monocentric cohort study with 15 010 participants aged 35 to 74. To determine the history-based prevalence of childhood glaucoma, participants were asked about the diagnosis of glaucoma, any operations for glaucoma that were performed, regular use of drugs for glaucoma, and the age of onset of glaucoma. The affected individuals were classified in four …

Commentary: Anderson‐Fabry Disease: A Rare Cause of Levodopa‐Responsive Early Onset Parkinsonism

2021

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Migraine in Children Under 7 Years of Age: a Review

2020

Purpose of review: Despite the accumulation of a significant amount of data on pediatric headache, few studies have been conducted on its occurrence in children under 7 years of age. Within primary headaches in this age, migraine especially, turns out to be a disorder affecting up to 4% of the general population. An underestimate of its true prevalence can be due to lack of specific diagnostic markers, the frequent difficulty of describing pain in childhood, and the necessity of reliable parents’ reports. Thus, migraine in children under 7 years of age represents an important challenge for clinicians. The objective of this manuscript is to provide a comprehensive review of epidemiologic, cl…