Search results for "Family history"
showing 10 items of 179 documents
Factors associated with colorectal cancer in the context of the Mediterranean diet: a case-control study
2014
Recent evidence demonstrates that increased adherence to the Mediterranean diet (MD) may prevent colorectal cancer (CRC). The aim of this study was to evaluate the association between health-related characteristics and CRC in the context of the MD. This was a case-control study conducted on a sample of 338 consecutive patients with a first diagnosis of CRC recruited in an urban facility in the city of Catania, southern Italy, and matched with 676 apparently healthy subjects without clinical symptoms or signs of any type of cancer. Data regarding sociodemographic, clinical, and lifestyle characteristics were collected, and adherence to the Mediterranean diet pattern was assessed using the Me…
Novel SCNN1A gene splicing-site mutation causing autosomal recessive pseudohypoaldosteronism type 1 (PHA1) in two Italian patients belonging to the s…
2021
Abstract Introduction Pseudohypoaldosteronism type 1 (PHA1) is a rare genetic disease due to the peripheral resistance to aldosterone. Its clinical spectrum includes neonatal salt loss syndrome with hyponatremia and hypochloraemia, hyperkalemia, metabolic acidosis and increased plasmatic levels of aldosterone. Two genetically distinct forms of disease, renal and systemic, have been described, showing a wide clinical expressivity. Mutations in the genes encoding for the subunits of the epithelial sodium channels (ENaC) are responsible for generalized PHA1. Patients’ presentation We hereby report on two Italian patients with generalized PHA1, coming from the same small town in the center of S…
Correction: Association of ionizing radiation dose from common medical diagnostic procedures and lymphoma risk in the Epilymph case-control study
2020
International audience; Medical diagnostic X-rays are an important source of ionizing radiation (IR) exposure in the general population; however, it is unclear if the resulting low patient doses increase lymphoma risk. We examined the association between lifetime medical diagnostic X-ray dose and lymphoma risk, taking into account potential confounding factors, including medical history. The international Epilymph study (conducted in the Czech-Republic, France, Germany, Ireland, Italy, and Spain) collected self-reported information on common diagnostic X-ray procedures from 2,362 lymphoma cases and 2,465 frequency-matched (age, sex, country) controls. Individual lifetime cumulative bone mar…
Prognosis of migraine headaches in adolescents: a 10-year follow-up study.
2006
Objective: To determine the long-term outcome of migraine headaches in adolescents and to identify possible predictors of prognosis. Methods: Fifty-five of 80 subjects with migraine headaches (ages 11 to 14 years), who attended the baseline examination of a population-based study conducted in southern Italy in 1989, were eligible for follow-up in 1999. All interviews and examinations were conducted by neurologists, and migraine diagnoses were based on the International Headache Society (IHS) criteria. The association between possible prognostic factors and the long-term persistence of migraine headaches was explored using logistic regression analysis. Results: Of 55 subjects with migraine h…
Next-generation-sequencing-based identification of familial hypercholesterolemia-related mutations in subjects with increased LDL–C levels in a latvi…
2015
Background Familial hypercholesterolemia (FH) is one of the commonest monogenic disorders, predominantly inherited as an autosomal dominant trait. When untreated, it results in early coronary heart disease. The vast majority of FH remains undiagnosed in Latvia. The identification and early treatment of affected individuals remain a challenge worldwide. Most cases of FH are caused by mutations in one of four genes, APOB, LDLR, PCSK9, or LDLRAP1. The spectrum of disease-causing variants is very diverse and the variation detection panels usually used in its diagnosis cover only a minority of the disease-causing gene variants. However, DNA-based tests may provide an FH diagnosis for FH patients…
Clinical-pathological and sociodemographic factors associated with the distant metastasis and overall survival of oral cavity and oropharynx squamous…
2020
Background The objective of this study was to evaluate the influence of clinical-pathological and sociodemographic factors on the prevalence of distant metastasis (DM) and overall survival in patients with oral cavity and oropharynx squamous cell carcinoma (OOSCC). Material and Methods Cross-sectional study based on the records of 404 OOSCC patients evaluated for DM, covering the period 2000-2014. We analysed the influence of age, sex, level of schooling, primary tumor subsite, treatment, marital status, family history of cancer, history of smoking and alcohol consumption, type of health care coverage (private vs. public) and overall survival. Findings were submitted to Fisher’s exact test,…
Rare variants in the genetic background modulate cognitive and developmental phenotypes in individuals carrying disease-associated variants
2019
Purpose: To assess the contribution of rare variants in the genetic background toward variability of neurodevelopmental phenotypes in individuals with rare copy-number variants (CNVs) and gene-disruptive variants. Methods: We analyzed quantitative clinical information, exome sequencing, and microarray data from 757 probands and 233 parents and siblings who carry disease-associated variants. Results: The number of rare likely deleterious variants in functionally intolerant genes (“other hits”) correlated with expression of neurodevelopmental phenotypes in probands with 16p12.1 deletion (n=23, p=0.004) and in autism probands carrying gene-disruptive variants (n=184, p=0.03) compared with thei…
Asthma and rhinoconjunctivitis comorbidity: United airway disease or inherited target organs?
2009
Garcia-Marcos L, Ruiz TR, Garcia-Hernandez G, Suarez-Varela MM, Valverde-Molina J, Sanchez-Solis M. Asthma and rhinoconjunctivitis comorbidity: United airway disease or inherited target organs? Pediatr Allergy Immunol 2010: 21: e142–e148. © 2009 The Authors Journal compilation © 2009 Blackwell Munksgaard The idea of a united airway disease for asthma and rhinoconjunctivitis is supported by clinical and epidemiological data. However, many asthmatics do not have rhinoconjunctivitis and vice versa. The aim of this study was to investigate if the family history of a specific organ involvement is associated with the implication of the same organ in the allergic child. According to the organ invo…
Is there an association between age at first words and speech sound disorders among 4- to 5-year-old children? An epidemiological cross-sectional stu…
2019
To investigate the role of the period of emergence of the first words and its interactions with other risk factors in predicting the development of speech sound disorder (SSD) among 4- to 5-year-old children.After 373 children underwent otolaryngology and speech pathology examinations, their parents answered a questionnaire about potential risk factors for speech impairment. The presence of SSD was identified by a speech pathologist who administered Fanzago's Articulation Test to each child. Multivariate logistic analysis was used to explore the relationships between variables and outcomes.Mean age at first words was 17.8 ± 6.5 months of life; 25.7% of patients suffered from SSD, and 3.7% f…
EAU Guidelines on Vesicoureteral Reflux in Children
2012
Context: Primary vesicoureteral reflux (VUR) is a common congenital urinary tract abnormality in children. There is considerable controversy regarding its management. Preservation of kidney function is the main goal of treatment, which necessitates identification of patients requiring early intervention.Objective: To present a management approach for VUR based on early risk assessment.Evidence acquisition: A literature search was performed and the data reviewed. From selected papers, data were extracted and analyzed with a focus on risk stratification. The authors recognize that there are limited high-level data on which to base unequivocal recommendations, necessitating a revisiting of thi…