Search results for " Humans"

Recombinant erythropoietin vs. blood transfusion care in infants with hereditary spherocytosis: a retrospective cohort study of A.I.E.O.P. patients (…

2017

A 7-Year-Old Boy and a 14-Year-Old Girl Initially Diagnosed with Toxic Shock Syndrome and Tested Positive for SARS-CoV-2 Infection, Supporting a Diag…

2021

Case series Patients: Male, 7-year-old • Female, 14-year-old Final Diagnosis: Multisystem inflammatory syndrome in children (MIS-C) Symptoms: Muscular weakness • shock Medication: — Clinical Procedure: — Specialty: Critical Care Medicine • Infectious Diseases • Pediatrics and Neonatology • Rheumatology Objective: Unusual clinical course Background: Multisystem inflammatory syndrome in children (MIS-C) has recently been described in children infected with severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2). This report describes 2 children with MIS-C who were initially diagnosed with toxic shock syndrome but who tested positive for SARS-CoV-2 infection on reverse transcription-polym…

Ketogenic diet for infants with epilepsy: A literature review.

2020

Abstract The ketogenic diet (KD) is an established, nonpharmacological treatment for drug-resistant epilepsy (DRE). Actually, KD and its variants have been shown to be elective and resolute for patients with glucose transporter type 1 (GLUT1) deficiency. The aim of this review was to study the use of KD and its variants in infancy, including the neonatal age, and demonstrate the safety and efficacy of this treatment in patients with the age of 0–23 months affected by DRE already subjected to pharmacological approach attempts. A literature search was conducted using PubMed as the medical database source. We used the age limit of 0–23 months, and we considered only articles published between …

Paracetamol and antibiotics in childhood and subsequent development of wheezing/asthma: association or causation?

2011

Background Several studies found an association between early administration of paracetamol and antibiotics and development of wheezing. This could be due to confounding: wheeze and asthmatic symptoms in early childhood are difficult to distinguish from respiratory tract infections that are widely treated with these drugs; in case of persistence of symptoms up to school age, this could explain the observed relationship. Methods We investigated the association between paracetamol and antibiotics use in the first year of life and wheezing phenotypes, i.e. wheezing starting in different time periods (early, persistent and late-onset) in the SIDRIA-2 study, a cross-sectional survey of 16,933 ch…

Prevalence of microcephaly in Europe: population based study.

2016

Objectives: Microcephaly is a congenital anomaly where the baby’s head is smaller than expected when compared with babies of the same sex, age and ethnicity. Many of these babies will have underdeveloped brains. This study aimed to provide contemporary estimates of the prevalence of microcephaly in Europe, determine if the diagnosis of microcephaly is consistent across Europe and to evaluate whether changes in prevalence would be detected using the current European surveillance performed by EUROCAT (the European Surveillance of Congenital Anomalies). Design: A questionnaire and a population-based, observational study Setting: 24 EUROCAT registries covering 570,000 births annually in 15 coun…

A second family with familial AD and the V717L APP mutation has a later age at onset

2006

Four mutations have been reported at the 717 codon of the amyloid precursor protein (APP), with valine substituted by isoleucine, glycine, phenylalanine, and leucine. While several families with the isoleucine substitution have been described, the other substitutions have been reported in only one family each worldwide. A family with the V717L APP mutation has been previously reported,1 with a mean age at onset of 38 years (range 35 to 39), based on four affected family members, and a mean age at death of 46 years (range 40 to 50). We have identified a second family with a later mean age at onset of 50 years (range 48 to 57) and mean age at death of 61 years (range 57 to 68). Family 171 is …

Death by SARS-CoV 2: a Romanian COVID-19 multi-centre comorbidity study

2020

AbstractEvidence regarding the relation between SARS-CoV-2 mortality and the underlying medical condition is scarce. We conducted an observational, retrospective study based on Romanian official data about location, age, gender and comorbidities for COVID-19 fatalities. Our findings indicate that males, hypertension, diabetes, obesity and chronic kidney disease were most frequent in the COVID-19 fatalities, that the burden of disease was low, and that the prognosis for 1-year survival probability was high in the sample. Evidence shows that age-dependent pairs of comorbidities could be a negative prognosis factor for the severity of disease for the SARS-CoV 2 infection.

Neonatal screening for congenital hypothyroidism in an Italian Centre: a 5-years real-life retrospective study

2021

Abstract Introduction Congenital hypothyroidism is an endocrine disease with a significant incidence in the general population (1:2000–1:3000 newborns in Italy) and a different geographical distribution, partially explained by endemic iodine deficiency, genetic traits and autoimmune thyroid diseases. Objectives Aims of this study are: to evaluate the incidence of positive neonatal blood spot screening for CH in western Sicily, identified by the screening centre of the Children Hospital “G. Di Cristina”, ARNAS, Palermo; to evaluate the impact of a lower TSH cutoff in the neonatal blood spot screening for CH. Materials and methods The TSH threshold of the neonatal screening was established as…

Activated prothrombin complex concentrate (FEIBA® ) in acquired haemophilia A: a large multicentre Italian study - the FAIR Registry

2019

Postural control and balance in a cohort of healthy people living in Europe: An observational study

2018

Abstract In the past 20 years, posturography has been widely used in the medical field. This observational study aimed to report the values derived from posturography of a wide set of healthy subjects from various European countries using a plantar pressure platform and a standardized method of measurement. A random cluster sampling of 914 healthy subjects aged between 7.0 and 85.99 years, stratified by age, was carried out. To provide percentile values of our cohort, data were processed to obtain 3 curves corresponding to the following percentiles: 25th, 50th, 75th, and the interquartile range. Distance-weighted least squares method was used to represent the percentile on appropriate graph…