Search results for "RICS"

Newborn screening of inherited metabolic disorders by tandem mass spectrometry: past, present and future

2013

Inborn errors of metabolism are inherited biochemical disorders caused by lack of a functional enzyme, transmembrane transporter, or similar protein, which then results in blockage of the corresponding metabolic pathway. Taken individually, inborn errors of metabolism are rare. However, as a group these diseases are relatively frequent and they may account for most of neonatal mortality and need of health resources. The detection of genetic metabolic disorders should occur in a pre-symptomatic phase. Recently, the introduction of the tandem mass spectrometric methods for metabolite analysis has changed our ability to detect intermediates of metabolism in smaller samples and provides the mea…

Prenatal diagnosis and epidemiology of multicystic kidney dysplasia in Europe

2014

ObjectivesThe aim of this study is to describe the prenatal diagnosis and epidemiology of multicystic kidney dysplasia (MCKD). MethodsThe study is based on routinely collected data from a European database of major congenital anomalies including 13 registries with cases born in 1997-2006 and covering 1458552 births. ResultsThere were 601 MCKD cases giving an overall prevalence of 4.12 per 10000 births with regional variation. In live births, 87% of cases had an isolated renal anomaly and 13% had associated major nonrenal anomalies (chromosomal, syndrome or other major anomalies). For the cases with isolated renal anomalies, 51/386 (11%) and 7/386 (2%) choose to terminate the pregnancy or re…

The Implications of Name Variations Among Spanish Cardiologists

2008

Eine vergleichende Untersuchung zum Reizdarmsyndrom bei konsekutiven Patienten zweier internistischer Ambulanzen

2001

OBJECTIVES We investigated the nature of illness behavior and the meaning of emotional deficiencies during childhood in patients with irritable bowel diseases (IBS). DATA A consecutive study in two tertiary referral centers was conducted with 48 patients suffering from irritable bowel diseases (IBS) and 91 patients with inflammatory bowel disease (IBD). METHODS The diagnosis of IBS was made by following the Manning criteria, a positive diagnosis of IBD was established through physical, endoscopic and radiologic examinations and was confirmed histologically. Psychological data were obtained by structured psychiatric interviews and psychological self-report measures (GBB). RESULTS We found th…

Children Below Five Years Of Age Can Handle Respimat® Soft MistTM Inhaler

2010

Best practices, challenges and innovations in pediatrics in 2019

2020

AbstractThis paper runs through key progresses in epidemiology, pathomechanisms and therapy of various diseases in children that were issued in the Italian Journal of Pediatrics at the end of last year. Novel research and documents that explore areas such as allergy, critical care, endocrinology, gastroenterology, infectious diseases, neonatology, neurology, nutrition, and respiratory tract illnesses in children have been reported. These observations will help to control childhood illnesses.

Use of the word "cured" for cancer patients-implications for patients and physicians: the Siracusa charter

2015

Long-term survival for adult patients with solid tumours continues to increase. For some cancers, the possibility of recurrence after a number of years is extremely low, and the risk of death becomes similar to that of the general population of the same sex and age. During the Fifth European Conference on Survivors and Chronic Cancer Patients held in Siracusa, Italy, June 2014, oncologists, general practitioners, epidemiologists, cancer patients and survivors, and patient advocates joined to discuss the possible use of the term “cured” in reference to some adult patients with solid tumours. The specific focus was the appropriateness of using the term in communicating with cancer patients, s…

National, regional, and global trends in adult overweight and obesity prevalences

2012

Epidemiological profile of patients infected by Human Immunodeficiency Virus (HIV)

2009

Introduction. The aim of the present work is to identify the principal characteristics of a sample of individuals at the moment of diagnosis of HIV infection. Material and methods. Descriptive, retrospective study, based on the hospital clinical records of 70 HIV+ patients, without AIDS, selected by means of simple aleatory sampling. Results. Transmission categories: Users of Injectable Drugs (UID) 81.4%, heterosexuals 10%, homo/bisexuals 4.3% and transfusions/plasma donors 2.9%, sex: ratio man/woman = 3.8/1, average age on diagnosis: 27.3 ± 7.0 years (UID 26.3 ± 5.1 years, heterosexuals 29.6 ± 2.1 years, homo/bisexuals 27.3 ± 3.9 and transfusions/plasma donors 51.4 ± 23.1 years (p = 0.02).…

The dilemma for patients with chronic hepatitis C: treat now or warehouse?

2013

Dual therapy with peginterferon and ribavirin, the only treatent for chronic hepatitis C available In Italy and in many other ountries worldwide up to 2013, obtains satisfactory response ates in infections with hepatitis C virus (HCV) genotype 2, but far rom optimal for other genotypes [1,2]. Eradication requires 6–12 onths of therapy, with significant inconvenience for patients: dverse reactions force premature termination in about 20% of atients and reduced the quality of life for almost all who persist n treatment. In view of the important and prolonged side effects, nterferon-based treatment is perceived as a nightmare by many symptomatic,well-being, socially activepatients (the largema…