Estimating mortality in rare diseases using a population-based registry, 2002 through 2019.

Background: Rare diseases (RD) are a heterogeneous group of diseases, sharing aspects of complexity. Prognosis is variable, even in individuals with the same disease. Real-world data on RD as a whole are scarce.

ORPHAcodes use for the coding of rare diseases: comparison of the accuracy and cross country comparability.

Background: Estimates of rare disease (RD) population impact in terms of number of affected patients and accurate disease definition is hampered by their under-representation in current coding systems. This study tested the use of a specific RD codification system (ORPHAcodes) in five European countries/regions (Czech Republic, Malta, Romania, Spain, Veneto region-Italy) across different data sources over the period January 2019-September 2021.

Results: Overall, 3133 ORPHAcodes were used to describe RD diagnoses, mainly corresponding to the disease/subtype of disease aggregation level of the Orphanet classification (82.

High-cost drugs for rare diseases: their expenditure and value based on a regional area-based study.

: in the field of rare diseases (RDs) most of the European studies on budget impact analysis of drugs that have been conducted often lay on theoretical assumptions and focus only on Orphan drugs (ODs). : we aimed to estimate the budget impact of specific drugs for non-oncological RDs, both ODs and non-ODs, using real-world data about patients residing in Veneto Region (Italy) and to describe its expenditure structure and dynamics. : a population-based multi-source observational study was conducted using data from Regional administrative databases; an ad-hoc drugs' list specific for RDs including both ODs and non-ODs and classifying them by ATC codes has been created.

Real-world use of orphan medicinal products (OMPs) in rare disease (RD) patients: A population-based registry study.

Despite calls for the use of real-world data, the rare diseases (RD) treatment landscape suffers from a scarcity of data referred to orphan medicinal products (OMP) use at the population level. We aim to describe the characteristics and patterns of utilization of OMP in a sizable group of RD patients globally monitored by an area-based rare diseases registry located in the Veneto region, Italy, during a 3-year period (1 January 2019 to 31 December 2021). A list of OMP (n = 60) was assembled for study purposes, according to extensive criteria with regard to the status of orphan designation and of national reimbursement decisions.

Organ donation from patients with a rare disease is often safe: the italian guidelines.

Although a disease is defined as rare when it has a prevalence of less than 1:2000, the overall prevalence of rare diseases in the population is greater than 1%. Among potential organ donors, a similar frequency is observed. To date, guidelines have not been established, and operational decisions have been made empirically, case- by-case, based on the experience and expertise of clinicians.

[The impact of the use of treatments not included in the reimbursement classes in the care of rare patients: a real world study.].

Introduction: Rare disease (RD) patients present complex therapeutic needs. When there are therapeutic options available, orphan drugs (OD) represent only a limited proportion of prescribed treatments. This study aims at investigating the real-world use of treatments considered not replaceable and essential for the care of RD patients, besides their reimbursement status, using data from a RD population-based registry.

Airborne pollen can affect the abundance of predatory mites in vineyards: implications for conservation biological control strategies.

Background: The importance of pollen as alternative food for generalist phytoseiid mites occurring in vineyards has been investigated in northeastern Italy. We compared pollen and phytoseiid abundance in four vineyards and in plots located at different distance from flowering hop plants. Pollen (Carpinus betulus and Typha spp.

Exposure to PFAS and small for gestational age new-borns: A birth records study in Veneto Region (Italy).

Background: Perfluoroalkylated substances (PFAS) in serum are inversely associated with fetal growth. Small for gestational age (SGA) is a measure based on birth weight and gestational age at birth and represents a good indicator of fetal growth but it has been used only in a small number of studies. We examined the association between PFAS exposure and the risk of severe SGA in a PFAS contaminated area in the Veneto Region (North-East of Italy).

Pattern of domestic violence from 2011 to 2015 in Beira, Mozambique.

Background: Violence against women represents a violation of a fundamental human right and is a significant cause of death and disability worldwide. In developing countries, this issue is particularly dramatic and in sub-Saharan Africa were reached 65% of women reporting domestic violence.

Objective: In this study, we assessed the burden and pattern of domestic violence registered at Beira Central Hospital, Mozambique from 2011 to 2015.

The Epidemiology of Transition into Adulthood of Rare Diseases Patients: Results from a Population-Based Registry.

: Despite the fact that a considerable number of patients diagnosed with childhood-onset rare diseases (RD) survive into adulthood, limited information is available on the epidemiology of this phenomenon, which has a considerable impact both on patients' care and on the health services. This study describes the epidemiology of transition in a population of RD patients, using data from the Veneto Region Rare Diseases Registry (VRRDR), a web-based registry monitoring since 2002 a consistent number of RD in a defined area (4.9 million inhabitants).

Genital trauma and vaginal bleeding: is it a lapse of time issue? A case report of a prepubertal girl and review of the literature.

Child victims of sexual abuse may present with physical findings whose interpretation requires the most exhaustive evaluation and an accurate collection of a detailed history. Genital bleeding is usually considered as an acute sign, related to a trauma that occurred shortly before its appearance. We report a case of a 34-month-old child who was referred to the emergency room with a significant vaginal hemorrhage, originating from a wide laceration of the posterior fourchette, and a negative history for accidental trauma.

Diagnosis of pervasive developmental disorders: when and how? An area-based study about health care providers.

Background: Pervasive developmental disorders (PDDs) can be very difficult to diagnose in children and to communicate such a diagnosis to their parents. Families of children with PDD learn of their child's diagnosis long after the first symptoms are noted in the child's behavior.

Methods: An area-based survey was conducted to assess all social and health care providers taking care of patients with PDDs in the Veneto Region (North-East Italy).

A new scale for the assessment of performance and capacity of hand function in children with hemiplegic cerebral palsy: reliability and validity studies.

Background: In hemiplegic children, the recognition of the activity limitation pattern and the possibility of grading its severity are relevant for clinicians while planning interventions, monitoring results, predicting outcomes.

Objective: Aim of the study is to examine the reliability and validity of Besta Scale, an instrument used to measure in hemiplegic children from 18 months to 12 years of age both grasp on request (capacity) and spontaneous use of upper limb (performance) in bimanual play activities and in ADL.

Design: Psychometric analysis of reliability and of validity of the Besta scale was performed.

A population-based registry as a source of health indicators for rare diseases: the ten-year experience of the Veneto Region's rare diseases registry.

Background: Although rare diseases have become a major public health issue, there is a paucity of population-based data on rare diseases. The aim of this epidemiological study was to provide descriptive figures referring to a sizable group of unrelated rare diseases.

Methods: Data from the rare diseases registry established in the Veneto Region of north-east Italy (population 4,900,000), referring to the years from 2002 to 2012, were analyzed.

Ranking brain areas encoding the perceived level of pain from fMRI data.

Pain perception is thought to emerge from the integrated activity of a distributed brain system, but the relative contribution of the different network nodes is still incompletely understood. In the present functional magnetic resonance imaging (fMRI) study, we aimed to identify the more relevant brain regions to explain the time profile of the perceived pain intensity in healthy volunteers, during noxious chemical stimulation (ascorbic acid injection) of the left hand. To this end, we performed multi-way partial least squares regression of fMRI data from twenty-two a-priori defined brain regions of interest (ROI) in each hemisphere, to build a model that could efficiently reproduce the psychophysical pain profiles in the same individuals; moreover, we applied a novel three-way extension of the variable importance in projection (VIP) method to summarize each ROI contribution to the model.

Disc prosthesis replacement and interbody fusion in the treatment of degenerative cervical disc disease: comparative analysis of 176 consecutive cases.

Purpose: The purpose of this retrospective analysis is to determine whether disc prosthesis replacement can be equivalent or superior compared with the disc interbody fusion.

Methods: Between January, 2005 and June, 2011 we performed microdiscetomy by the anterior approach in 176 patients. We subdivided the total set of patients into two groups.

Visual, motor, and psychomotor development in small-for-gestational-age preterm infants.

Purpose: To study causal links between the visual, cognitive, and psychomotor outcomes of premature babies who are small for gestational age (SGA).

Methods: A cohort study of 17 SGA cases and 34 controls who were appropriate for gestational age (AGA) was carried out. The cases were all premature babies without any other pathology.

The SHOX gene and the short stature. Roundtable on diagnosis and treatment of short stature due to SHOX haploinsufficiency: how genetics, radiology and anthropometry can help the pediatrician in the diagnostic process Padova (April 20th, 2011).

The growth of the human body depends from a complex interaction between nutritional, environmental and hormonal factors and by a large number of different genes. One of these genes, short stature homeobox (SHOX), is believed to play a major role in growth. SHOX haploinsufficiency is associated with a wide spectrum of conditions, all characterized growth failure such as Leri-Weill dyschondrosteosis, Turner syndrome, short stature with subtle auxological and radiological findings and the so called "idiopathic short stature" (short stature with no specific findings other than growth failure).

Unimanual and bimanual intensive training in children with hemiplegic cerebral palsy and persistence in time of hand function improvement: 6-month follow-up results of a multisite clinical trial.

This study aims to compare in hemiplegic children the effectiveness of intensive training (unimanual and bimanual) versus standard treatment in improving hand function, assessing the persistence after 6 months. A multicenter, prospective, cluster-randomized controlled clinical trial was designed comparing 2 groups of children with hemiplegic cerebral palsy, treated for 10 weeks (3 h/d 7 d/wk; first with unimanual constraint-induced movement therapy, second with intensive bimanual training) with a standard treatment group. Children were assessed before and after treatment and at 3 and 6 months postintervention using Quality of Upper Extremity Skills Test (QUEST) and Besta Scales.

[The quality of interdisciplinary communication].

Because of a continued increase of complex patients and the development of many areas of sub-specialities in medicine, the use and quality of interdisciplinary communication has been found to be lacking, especially between hospital and primary care physicians, causing a significant gap in the documentation, coverage and care of individual patients. The study focuses on state of the art interdisciplinary communication, with consideration given to current used tools and priorities. An ad hoc questionnaire surveyed 118 physicians about their profession, the types of patients, the frequency of complex cases, the tools used to communicate with each patient and how the physicians rated these tools.

Multisite trial comparing the efficacy of constraint-induced movement therapy with that of bimanual intensive training in children with hemiplegic cerebral palsy: postintervention results.

Objective: The aim of this study was to compare the effects of modified constraint-induced movement therapy (mCIMT; restraint of unaffected limb combined with unimanual intensive rehabilitation) with those of a bimanual intensive rehabilitation treatment (IRP) in children with hemiplegic cerebral palsy after a 10-wk practice vs. standard treatment (ST).

Design: This study is a multicenter, cluster-randomized controlled clinical trial of tested groups of children with hemiplegic cerebral palsy treated using mCIMT, IRP, or ST.

"Vaginal" bleeding in prepubertal age: a rare scaring riddle, a case of the urethral prolapse and review of the literature.

The entities responsible for isolated vaginal bleeding are a broad spectrum of diseases. Vaginal bleeding in a prepubertal child is always treated as an alarming symptom both by parents and professionals. Most often, one of the first hypotheses is that a sexual abuse may be occurred and the clinical work up is oriented to explore it and eventually confirm or substantiante another diagnosis.

The perception of involved professionals towards research feasibility and usefulness: lessons from the Multi-Site Trial on Efficacy of Constraint Induced Movement Therapy in Children with Hemiplegia.

Background: In the last decades, the world of rehabilitation has been more and more calling for clear evidence to support intervention and numerous research programs have been developed. At stake, relatively little research on opinions and attitude of rehabilitation personnel involved in research conducted in real clinical settings has been carried out.

Aim: To explore the opinion of professionals involved in a national clinical trial on research.