Search results for "chool"
showing 10 items of 4346 documents
Phenotypic analysis of individuals with Costello syndrome due to HRAS p.G13C.
2011
Costello syndrome is characterized by severe failure-to-thrive, short stature, cardiac abnormalities (heart defects, tachyarrhythmia, and hypertrophic cardiomyopathy (HCM)), distinctive facial features, a predisposition to papillomata and malignant tumors, postnatal cerebellar overgrowth resulting in Chiari 1 malformation, and cognitive disabilities. De novo germline mutations in the proto-oncogene HRAS cause Costello syndrome. Most mutations affect the glycine residues in position 12 or 13, and more than 80% of patients share p.G12S. To test the hypothesis that subtle genotype-phenotype differences exist, we report the first cohort comparison between 12 Costello syndrome individuals with p…
Ventricular tachycardia in non-compaction of left ventricle: Is this a frequent complication?
2007
Background: Isolated left ventricular non-compaction is the result of incomplete myocardial morphogenesis, leading to persistence of the embryonic myocardium. The condition is recognized by an excessively prominent trabecular meshwork and deep intertrabecular recesses of the left ventricle. Whether these intertrabecular recesses are a favorable substrate for ventricular arrhythmias is unclear. Some reports have found that the fatal ventricular arrhythmias may occur in approximately half of the patients. In this report we investigated about this association. Methods and Results: In total we evaluated a continuous series of 238 patients affected by non-compaction. Periodic Holter monitoring w…
Search for a gene responsible for Floating-Harbor syndrome on chromosome 12q15q21.1.
2012
International audience; Floating-Harbor syndrome (FHS) is characterized by characteristic facial dysmorphism, short stature with delayed bone age, and expressive language delay. To date, the gene(s) responsible for FHS is (are) unknown and the diagnosis is only made on the basis of the clinical phenotype. The majority of cases appeared to be sporadic but rare cases following autosomal dominant inheritance have been reported. We identified a 4.7 Mb de novo 12q15-q21.1 microdeletion in a patient with FHS and intellectual deficiency. Pangenomic 244K array-CGH performed in a series of 12 patients with FHS failed to identify overlapping deletions. We hypothesized that FHS is caused by haploinsuf…
Genotype and phenotype analysis of Friedreich's ataxia compound heterozygous patients
2000
Friedreich's ataxia is caused by mutations in the FRDA gene that encodes frataxin, a nuclear-encoded mitochondrial protein. Most patients are homozygous for the expansion of a GAA triplet repeat within the FRDA gene, but a few patients show compound heterozygosity for a point mutation and the GAA-repeat expansion. We analyzed DNA samples from a cohort of 241 patients with autosomal recessive or isolated spinocerebellar ataxia for the GAA triplet expansion. Patients heterozygous for the GAA expansion were screened for point mutations within the FRDA coding region. Molecular analyses included the single-strand conformation polymorphism analysis, direct sequencing, and linkage analysis with FR…
Psychiatric disorders in childhood cancer survivors in Denmark, Finland, and Sweden: a register-based cohort study from the SALiCCS research programm…
2022
BACKGROUND A childhood cancer diagnosis and treatment-induced somatic late effects can affect the long-term mental health of survivors. We aimed to explore whether childhood cancer survivors are at higher risk of psychiatric disorders later in life than their siblings and the general population. METHODS In this register-based cohort study (part of the Socioeconomic Consequences in Adult Life after Childhood Cancer [SALiCCS] research programme), we included 5-year survivors of childhood cancer diagnosed before 20 years of age between Jan 1, 1974 and Dec 31, 2011, in Denmark, Finland, and Sweden. In Denmark and Sweden, 94��7% of individuals were born in a Nordic country (ie, Denmark, Finland,…
The impact of the 2008 economic crisis on the increasing number of young psychiatric inpatients.
2017
Abstract Background Little is published about the impact of the 2008 economic crisis on mental health services in Spain. Method An interrupted time series analysis was conducted to investigate a potential short-term association between the 2008 economic crisis and the number of psychiatric hospital admissions. The timing of the intervention (April 2008) was based on observed changes in Gross Domestic Product (GDP). Data on 1,152,880 psychiatric inpatients from the national Hospital Morbidity Survey, 69 months before and after the onset of the economic crisis (April 2008), were analyzed. Results Age-adjusted psychiatric (ICD9 290–319) hospital discharge rates significantly increased from Apr…
Sensitization to Horse Allergens in Italy: A Multicentre Study in Urban Atopic Subjects without Occupational Exposure.
2010
<i>Background:</i> Horses play a significant role in people’s leisure time in Italy and other countries, but few data are available on IgE-mediated sensitization to horse allergens in patients without occupational exposure. We assessed, in a multicentric survey, the prevalence of horse sensitization in atopic subjects and its clinical characteristics. <i>Methods:</i> Allergists from the whole Italian territory were required to collect the results of skin prick tests from at least 100 consecutive subjects. Those patients with a positive skin test to horse dander underwent a detailed interview concerning clinical history, pet ownership and possible exposure. <i>R…
Addressing the impact of SARS-CoV-2 infection in persons with congenital bleeding disorders: The Italian MECCOVID-19 study
2021
congenital bleeding disorders
Subtemporal Keyhole Approach to the Suprasellar and Petroclival Region: Microanatomic Considerations and Clinical Application
1997
OBJECTIVE: To minimize surgical invasiveness, the keyhole concept is applied to the subtemporal approach. METHODS: Anatomic features were studied in 14 sides of adult cadaver heads, and the technique was used in 162 interventions. Although most of the lesions treated were 3 cm in size or smaller, larger lesions were also treated using this technique. In some cases, if needed, an endoscope-assisted microsurgical technique was used. RESULTS: The cadaveric study provided intimate experience with the microsurgical anatomy of the approach. The 162 consecutive patients who were operated on harbored various types of lesions; the most recent 43 consecutive interventions were investigated in detail.…
How angioarchitecture of cerebral arteriovenous malformations should influence the therapeutic considerations.
1995
PURPOSE To evaluate the angioarchitectural criteria of complex cerebral arteriovenous malformations (AVMs), concerning the risk of hemorrhage and therapy planing. METHODS The magnetic resonance (MR) imaging and neuroangiographic findings of 227 AVMs (223 patients) were retrospectively evaluated. Statistical analysis was used to define the relative frequency of these lesions for hemorrhage in correlation with various parameters (i.e. age of the patient, size, location, associated aneurysms). RESULTS Onset of symptoms was between 21 and 40 years of age in 50% of cases. The ratio of centrally to convexially located lesions was 1:2. Convexial AVMs are classified by MR imaging into sulcal and gy…