Search results for "Repo"
showing 10 items of 2753 documents
Commentary: Anderson‐Fabry Disease: A Rare Cause of Levodopa‐Responsive Early Onset Parkinsonism
2021
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Clinical and Brain Imaging Findings in a Child with Vitamin B12 Deficiency
2021
Vitamin B12 (Vit-B12) deficiency is a rare and treatable cause of failure to thrive and delayed development in infants who are exclusively breastfed. Apart from genetic causes, it can be related to a malabsorption syndrome or when the mother follows a strict vegetarian or vegan diet, causing a low hepatic storage of Vit-B12 in the infant at birth. As the neurological symptoms are nonspecific, a brain magnetic resonance imaging (MRI) exam is usually performed to rule out primary causes of neurodevelopmental delay. Findings related to brain atrophy are usually observed. A favorable response is achieved with Vit-B12 therapy, and neurological symptoms dramatically improve within a few days afte…
Low Frequency of Viral Respiratory Tract Infections During Family-Centered Neonatal Intensive Care: Results of a Prospective Surveillance Study
2020
Background: Viral respiratory tract infections (VRTI) may cause severe respiratory and sepsis-like symptoms in infants hospitalized in the neonatal intensive care unit (NICU). Little is known about the frequencies of VRTI in relation to visiting policies in the NICU. Objective: Aim of this study was to evaluate the frequency of symptomatic and asymptomatic VRTI in our family-centered NICU. Methods: This was a 12-month, prospective, observational study from February 2018 to January 2019. Infants hospitalized ≥72 h were eligible for the study. To determine the frequency of VRTI, multiplexed point-of-care testing (mPOCT) of symptomatic infants was combined with a weekly screening of all infant…
Oral manifestations of ellis-van creveld syndrome. A rare case report
2019
Ellis-van Creveld syndrome (EVC) or chondroectodermal dysplasia is an autosomal recessive disorder, characterized by dwarfism, polydactyly, hypoplastic fingernails and congenital heart defects, finding in most of the cases orofacial anomalies. We describe a clinical case of a 9 year old male patient diagnosed with EVC who visited our Maxillofacial private consultation at Alcorcon Southern Hospital, presenting typical oral manifestations such as dental agenesis, delayed eruption, hypoplasia of the enamel, dental dysmorphism, taurodontism and supernumerary teeth. EVC syndrome is a rare disease and requires a multidisciplinary approach. Oral features are constant and requires the jointly perfo…
Non-neoplasic and non-syndromic palatal perforations. Presentation of 5 cases and systematic review of the literature
2021
Background Palatal perforations not associated with syndromes or neoplasms are rare lesions whose frequency has increased recently. However, their clinical and demographic characteristics have not been fully described. Therefore, this report aimed to establish the demographic and clinical characteristics of patients with non-syndromic and non-neoplastic palatal perforations. Material and Methods The file of an oral medicine teaching clinic from January 2004 to December 2018 was reviewed to identify and isolate all cases with a diagnosis of palatal perforation. Cases with a diagnosis of palatal perforation related to congenital alteration, syndrome, or neoplasia were excluded. Age, sex, medi…
Van der Woude syndrome- a syndromic form of orofacial clefting
2012
Van der Woude Syndrome is the most common form of syndromic orofacial clefting, accounting for 2% of all cases, and has the phenotype that most closely resembles the more common non-syndromic forms. The syndrome has an autosomal dominant hereditary pattern with variable expressivity and a high degree of penetrance with cardinal clinical features of lip pits with a cleft lip, cleft palate, or both. This case report describes van der Woude syndrome in a 19 year old male patient with a specific reference to the various aspects of this condition, as clinical appearance, etiological factors (genetic aspects), differential diagnosis, investigative procedures and management. Key words:Cleft palate…
Mucormycosis in a healthy elderly patient presenting as oro-antral fistula: Report of a rare incidence
2015
Mucormycosis is a rare opportunistic fungal infection that commonly affects patients who are immuno-compromised. It invariably presents as an acute spreading infection, with very poor prognosis if not treated promptly. We report a case of mucormycosis in immuno-competent elderly patient, presenting as oro-antral communication. Patient’s history, clinical and laboratory evaluation revealed no systemic predisposing factors. The disease was non-fulminant, localized and showed remission after local measures, without parentral anti-fungal therapy. Key words:Mucormycosis, maxilla, elderly, oroantral communication.
Obesity and overweight prevalences in rural and urban populations in East Spain and its association with undiagnosed hypertension and Diabetes Mellit…
2009
Abstract Background An increase in the number of overweight and obese subjects in the general population has been observed. The aim of this study was to determine the prevalence of overweight and obese subjects in the general population and its association with undiagnosed pathologies, such as diabetes mellitus [DM] and hypertension [HT], by taking age, gender and place of residence [rural or urban] into account. Findings A cross-sectional population-based survey was conducted in Castellón, East Spain in 2005–2006. The sample included 2,062 participants aged 18–94 years. Weight, height, blood pressure and glycaemia values were recorded, and information about gender, age and place of residen…
Transfusion‐transmitted malaria of plasmodium malariae in palermo, sicily
2021
Transfusion-transmitted malaria (TTM) is a rare occurrence with serious consequences for the recipient. In non-endemic areas, the incidence of transmission of malaria by transfusion is very low. We report a clinical case of transfusion-transmitted malaria due to Plasmodium malariae, which happened in a patient with acute hemorrhagic gastropathy. Case presentation: In April 2019, a 70-year-old Italian man with recurrent spiking fever for four days was diagnosed with a P. malariae infection, as confirmed using microscopy and real-time PCR. The patient had never been abroad, but about two months before, he had received a red blood cell transfusion for anemia. Regarding the donor, we revealed t…
A case of Brucella endocarditis in association with subclavian artery thrombosis.
2012
Brucellosis is a common zoonosis, endemic in Mediterranean countries, and caused by bacteria ofBrucellagenus. Brucellosis is a systemic infection and the clinical presentation varies widely from asymptomatic and mild to severe disease. Cardiovascular complications are extremely rare. We present a case of arterial thrombosis in a previously healthy young patient withBrucellaendocarditis. Careful attention must be paid to any sign or symptom of thrombosis in patients affected by brucellosis, regardless of the presence of endocarditis and cardiovascular risk factors.