Introduction: Currarino syndrome is a rare syndrome with multiple congenital anomalies including sacral agenesis, anorectal malformation, and presence of a presacral mass. Currarino syndrome is considered to be an autosomal dominant inherited disorder, with low penetrance and variable expressivity, but sporadic cases have also been reported. Mutations in gene, mapped to 7q36, are the main causes of this syndrome.
View Article and Find Full Text PDFIntellectual property rights have changed the market value and direction of artistic innovation throughout art history, in particular when new creations built on the art of predecessors. In this paper, we test how changes in legal frameworks and litigation risks affected market value and commercial trade around artistic reuses in the figurative arts and the 'Appropriation Art' movement in particular. Appropriation artists borrow images from different sources and incorporate them into new, derivative works of art.
View Article and Find Full Text PDFBackground: Wolfram syndrome is a rare autosomal recessive neurodegenerative disorder that affects 1/200,000 to 1/1,000,000 children. It is characterized by juvenile onset diabetes, optic nerve atrophy and other systemic manifestations. Symptoms of the disease arise mostly in early childhood with a high mortality rate due to severe neurological complications.
View Article and Find Full Text PDFOsteogenesis imperfecta is an inherited clinically heterogeneous disorder of bone metabolism characterized by bone and skeletal fragility and an increased risk of fractures. Pamidronate infusion was the standard treatment, but zoledronic acid is increasingly used to treat children with osteogenesis imperfecta. We conducted a systematic literature review to evaluate the efficacy and safety of intravenous zoledronic acid in the treatment of osteogenesis imperfecta in pediatric patients.
View Article and Find Full Text PDFBetween 2014 and 2016, there were two severe community water system (CWS) failures in Flint, Michigan (MI), USA and Havelock North, Hawkes Bay, New Zealand. These events had profound implications for public health in their respective countries. While the nature of both crises was different, certain aspects of the failings were strikingly similar.
View Article and Find Full Text PDFBackground: Fibromyalgia may be associated to Spondyloarthritis with which it shares some common symptoms such as sleep disorders, fatigue and diffuse pain, leading to diagnostic and treatment dilemmas.
Objectives: We aimed to determine the prevalence of fibromyalgia in axial spondyloarthritis and to determine how fibromyalgia might influence the assessments of disease activity and how it might impact treatment.
Methods: An observational cross-sectional study was conducted.
Aim: While a patient's nutritional status is known to generally have a role in postoperative wound healing, there is little information on its role as therapy in the multifaceted problem of diabetic foot infections (DFIs).
Methods: We assessed this issue by conducting a retrospective case-control cohort study using a multivariate Cox regression model. The nutrition status of the DFI patients was assessed by professional nutritionists, who also orchestrated the nutritional intervention (counselling, composition of the intrahospital food) during hospitalization.
Purpose: Breast cancer (BC) is the most common form of female cancer around the world. BC is mostly sporadic, and rarely hereditary. These hereditary forms are mostly BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome.
View Article and Find Full Text PDFCOVID-19 disrupted international tourism worldwide, subsequently presenting forecasters with a challenging conundrum. In this competition, we predict international arrivals for 20 destinations in two phases: (i) Ex post forecasts pre-COVID; (ii) Ex ante forecasts during and after the pandemic up to end 2021. Our results show that univariate combined with cross-sectional hierarchical forecasting techniques (ieF-ETS) outperform multivariate models pre-COVID.
View Article and Find Full Text PDFSignificance: Lifestyle influences eye health and other chronic diseases. All health care providers, not just primary care physicians, should have the necessary information and training to advise and refer patients on lifestyle to take advantage of opportunities to provide such advice.
Purpose: The extent to which optometrists offer lifestyle advice to their patients is largely unknown.
Neuropsychol Dev Cogn B Aging Neuropsychol Cogn
July 2021
. The present study aimed to examine the long-term impact of CS on Executive Function (EF) and memory among older adults living in the community. .
View Article and Find Full Text PDFDystrophinopathies are the most common genetic neuromuscular disorders during childhood, with an X-linked recessive inheritance pattern. Because of clinical and genetic heterogeneity of dystrophinopathies, genetic testing of dystrophin gene at Xp21.2 is constantly evolving.
View Article and Find Full Text PDFThyroid surgery requires a thorough knowledge of cervical anatomy and anatomical variations, in particular of the lower laryngeal nerve, in order to avoid iatrogenic lesions. The objective of our study was to analyze the relationships of the lower laryngeal nerve, the existence of branches of nerve division and a subjective appreciation of the size of the nerve. This is a prospective study of 1 year including 60 patients who underwent thyroidectomy.
View Article and Find Full Text PDFBackground: Epilepsy is the most common neurological disorder that causes spontaneous, unprovoked, and recurrent seizures. Epilepsy is clinically and genetically heterogeneous with various modes of inheritance. The complexity of epilepsy presents a challenge and identification of the causal genetic mutation allows diagnosis, genetic counseling, predicting prognosis, and, in some cases, treatment decisions.
View Article and Find Full Text PDFPurpose: To investigate the association between serum 25-hydroxyvitamin D (25[OH]D) concentrations at visit 2 (1990-1992) and the 18-year incidence of age-related macular degeneration (AMD) between visit 3 (1993-1995) and visit 5 (2011-2013).
Methods: This prospective analysis was conducted in a subset of participants (n = 1225) from the Atherosclerosis Risk in Communities Study. We evaluated the incidence of any, early, and late AMD from visit 3 to 5.
Background: Pompe disease is an autosomal recessive lysosomal storage disorder characterized by progressive myopathy with proximal muscle weakness, respiratory muscle dysfunction, and cardiomyopathy. Its prevalence ranges between 1/9000 and 1/40,000. It is caused by compound heterozygous or homozygous mutations in the GAA gene, which encodes for the lysosomal enzyme alpha-glucosidase, required for the degrading of lysosomal glycogen.
View Article and Find Full Text PDFStatus matrimonial, cigarette smoking and hormonal contraceptive (HC) use have been associated with cervical cancer (CC) establishment by influencing the CC carcinogenesis process. In the present study, we aim to confirm this correlation between these factors and the risk of CC occurrence among Tunisian population. To evaluate the role of matrimonial status, smoking and HC as cofactors of CC installation, we performed a random selection of 600 women from Salah Azeiz institute in Tunisia and a questionnaire was conducted by doctors for each patient.
View Article and Find Full Text PDFPartial laryngectomy with either cricohyoidoepiglottopexy (CHEP) are mainly used to treat glottic cancers becuse they ensure a satisfactory preservation of physiological functions and satisfactory local carcinologic control. Our study aimed to analyze the functional and carcinologic results of this surgical technique. We conducted a retrospective study of patients undergoing partial laryngectomy with either cricohyoidoepiglottopexy in our Hospital between 2011 and 2014.
View Article and Find Full Text PDFObjectives: Vitamin D status has been hypothesized to protect against development of early age-related macular degeneration (AMD) via its anti-inflammatory properties and its possible beneficial influence on blood pressure control. We investigated the association between vitamin D status and prevalent early AMD in a community-based cohort.
Design: This was a cross-sectional study.
Laryngeal cancer metastases are relatively rare and mainly affect the lung. The medullary localization remains exceptional. We report the case of a patient followed for operated laryngeal cancer and whose oncologic control revealed a medullary localization.
View Article and Find Full Text PDFPurpose: To examine the association between xanthophyll intake and prevalent early age-related macular degeneration (AMD) using data from the Atherosclerosis Risk in Communities Study (n = 10,295). Potential effect modification by genetic polymorphisms and biomarkers of high-density lipoprotein (HDL) metabolism was explored.
Methods: Xanthophyll intake was assessed at visit 1 (1987-1989) using food frequency questionnaires.
Background: Vitamin D status has been hypothesized to protect against development of diabetic retinopathy via its anti-inflammatory and anti-angiogenic properties. Additionally, in vitro and in vivo studies suggest vitamin D favorably influences blood pressure and blood glucose control, strong risk factors for diabetic retinopathy. We examined the association between vitamin D status and prevalent diabetic retinopathy in participants with diabetes from a population-based cohort.
View Article and Find Full Text PDFPurpose: We tested the hypothesis that dietary intake of lutein is inversely associated with prevalence of diabetic retinopathy (DR) due to its antioxidant and anti-inflammatory properties and location within the retina.
Methods: We used logistic regression to examine the association between prevalent DR and energy-adjusted lutein intake by quartile (Q) using data collected from 1430 Atherosclerosis Risk in Communities Study (ARIC) participants with diabetes (n = 994 white, n = 508 black). DR was assessed from 45° non-mydriatic retinal photographs of one randomly chosen eye taken at visit 3 (1993-1995).