Breastfeeding and presence of the companion of woman's choice during COVID-19 pandemic in Italy: regional population-based routine data and best practices at birth

OBJECTIVES: to describe the monthly trend of breastfeeding during hospitalization and the presence of companion of woman's choice during labour and birth, and the key regional responders' perspective of homogeneity/heterogeneity of the presence of the support person, before, during (February-May 2020), and after the first COVID-19 pandemic wave in a few Italian Regions. DESIGN: two-phase study. SETTING AND PARTICIPANTS: data from the italian birth certificate of six Italian Regions between 01.01.2019 and 31.03.2021 were analysed. Semi-structured interviews were conducted with the key regional respondents. MAIN OUTCOME MEASURES: the frequency distributions of breastfeeding and the presence of companion of woman's choice were calculated as a whole and for each Region. RESULTS: the infant feeding practices experienced smaller changes during COVID-19 pandemic than the presence of the companion of woman's choice during labour and birth, from January 2019 to March 2021. The highest value of exclusive breastfeeding was recorded in September 2020 (72.1%; 95%CI 71.3-72.8) in all Regions, while the lowest was recorded in March 2021 (62.5%; 95%CI 61.5-63.4). The presence of companion of woman's choice during labour and birth decreased during the pandemic and did not return to pre-pandemic levels. The highest value of presence of father during birth was recorded in March 2019 (59.0%; 95%CI 58.2-59.8), while the lowest in April 2020 (50.0%; 95%CI 49.1-50.8). The main emerging themes were: the existence of national, regional and local indications; the facilitators (e.g., Baby-Friendly Hospital Initiative implementation, strong motivation of the staff) and the critical points (e.g., inadequate analysis of the clinical-epidemiological context, inhomogeneous indications) of management of the support person presence. CONCLUSIONS: the emergency has changed the provision of health services that not always guaranteed the application of best practices. It would be desirable to work for assessing the appropriateness of the birth certificate data to collect more accurate information and to provide clinical recommendations.

Pregnancy outcomes in Italy during COVID-19 pandemic: a population-based cohort study.

OBJECTIVE: To compare the estimates of preterm birth (PTB; 22-36 weeks gestational age, GA) and stillbirth rates during COVID-19 pandemic in Italy with those recorded in the three previous years. DESIGN: A population-based cohort study of liveborn and stillborn infants was conducted using data from Regional Health Systems and comparing the pandemic period (March 1st , 2020-March 31st , 2021, N= 362,129) to an historical period (January 2017- February 2020, N=1,117,172). The cohort covered 84.3% of the births in Italy. METHODS: Poisson regressions were run in each Region and meta-analyses were performed centrally. We used an interrupted time series regression analysis to study the trend of preterm births from 2017 to 2021. MAIN OUTCOME MEASURES: The primary outcomes were PTB and stillbirths. Secondary outcomes were late PTB (32-36 weeks' GA), very PTB (<32 weeks' GA), and extremely PTB (<28 weeks' GA), overall and stratified into singleton and multiples. RESULTS: The pandemic period compared with the historical one was associated with a reduced risk for PTB (Risk Ratio: 0.91; 95% Confidence Interval, CI: 0.88, 0.93), late PTB (0.91; 0.88, 0.94), very PTB (0.88; 0.84, 0.91), and extremely PTB (0.88; 0.82, 0.95). In multiples, point estimates were not very different, but had wider CIs. No association was found for stillbirths (1.01; 0.90, 1.13). A linear decreasing trend in PTB rate was present in the historical period, with a further reduction after the lockdown. CONCLUSIONS: We demonstrated a decrease in PTB rate after the introduction of COVID-19 restriction measures, without an increase in stillbirths.

Clinical course and outcomes of diagnosing Inflammatory Bowel Disease in children 10 years and under: retrospective cohort study from two tertiary centres in the United Kingdom and in Italy.

BACKGROUND: Most children with Inflammatory Bowel Disease (IBD) are diagnosed between 11 and 16 years of age, commonly presenting with features of typical IBD. Children with onset of gut inflammation under 5 years of age often have a different underlying pathophysiology, one that is genetically and phenotypically distinct from other children with IBD. We therefore set out to assess whether children diagnosed after the age of 5 years, but before the age of 11, have a different clinical presentation and outcome when compared to those presenting later. METHODS: Retrospective cohort study conducted at two European Paediatric Gastroenterology Units. Two cohorts of children with IBD (total number = 160) were compared: 80 children diagnosed between 5 and 10 years (Group A), versus 80 children diagnosed between 11 and 16 (Group B). Statistical analysis included multiple logistic regression. RESULTS: Group A presented with a greater disease activity (p = 0.05 for Crohn's disease (CD), p = 0.03 for Ulcerative Colitis (UC); Odds Ratio 1.09, 95 % Confidence Interval: 1.02-1.1), and disease extent (L2 location more frequent amongst Group A children with CD (p = 0.05)). No significant differences were observed between age groups in terms of gastro-intestinal and extra-intestinal signs and symptoms at disease presentation, nor was there a difference in the number of hospitalisations due to relapsing IBD during follow-up. However, children in Group A were treated earlier with immunosuppressants and had more frequent endoscopic assessments. CONCLUSION: While clinicians feel children between 5 and 10 years of age have a more severe disease course than adolescents, our analysis also suggests a greater disease burden in this age group. Nevertheless, randomized trials to document longer-term clinical outcomes are urgently needed, in order to address the question whether a younger age at disease onset should prompt per se a more "aggressive" treatment. We speculate that non-clinical factors (e.g. genetics, epigenetics) may have more potential to predict longer term outcome than simple clinical measures such as age at diagnosis.

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

Background: 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). Objectives: 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. Methods: 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. Results: In 2019, the total expenditure for drugs specific for RDs was EUR 97.2 million (6.6% of the total Regional budget). The RD drug list included 58 ATC codes, of which 15 ATC had an annual budget impact over EUR 1 million ("blockbuster drugs"). The most expensive treatment was a non-OD drug (Coagulation factor VIII). The two most represented therapeutical areas were the metabolic and the hematological ones. Conclusions: Cost analyses on RD high-cost drugs expenditure should consider any specific RD drug, not only ODs. Expenditure dynamics for RD drugs are peculiar showing "blockbuster drugs". Some therapeutical areas seem to be lacking in the drug research field.

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. The aim of this study is to provide data on mortality and survival for a substantial group of RD deriving from a population-based registry, which covers the Veneto region in Italy (4.9 million inhabitants). RESULTS: During the study period, 3367 deaths occurred, mainly in males (53.9%), elderly patients (63.5%) and patients with diseases having a reported prevalence of 1-9/100000 (65.6%). When standardizing by age, the mortality ratio was higher in RD patients than in the general population, SMR = 1.93 (95% CI 1.84-2.11), with an observed gender difference, 2.01 (95% CI 1.88-2.29) in females and 1.86 (95% CI 1.73-2.10) in males. The lowest survival rates are experienced by patients with rare neurologic diseases, rare skin diseases and rare systemic or rheumatologic diseases, 58%, 68% and 81%, respectively, after a 15-year observation period. It should be noted that only 18% of patients diagnosed with motor neuron diseases were alive after 15 years from diagnosis. CONCLUSIONS: Despite progress in diagnosis, treatment and care in recent years, RD patients globally have higher mortality rates and reduced survival compared to the general population, with specific variations according to gender, age and disease group.

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 (82.2%). More than half of the ORPHAcodes (53.6%) described diseases having a very low prevalence (< 1 case per million), and most commonly captured rare developmental defects during embryogenesis (31.3%) and rare neurological diseases (17.6%). ORPHAcodes described disease entities more precisely than corresponding ICD-10 codes in 83.4% of cases. CONCLUSIONS: ORPHAcodes were found to be a versatile resource for the coding of RD, able to assure easiness of use and inter-country comparability across population and hospital databases. Future research on the impact of ORPHAcoding as to the impact of numbers of RD patients with improved coding in health information systems is needed to inform on the real magnitude of this public health issue.

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

Background: 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. Objectives: 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). Methods: 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. Results: OMP prescriptions involved 1,010 patients, corresponding to the 2.3% of all the patients monitored by the RD registry. Nearly one out of five (22.8%) was a pediatric patient at the time of the first prescription. OMP use interested a limited proportion (17.5%) of diseases approaching the rarity threshold, having a prevalence of less than five per 10,000, while individuals affected by these more common rare conditions represented 49% of all the patients receiving an OMP prescription. A clustering effect of OMP use was observed in selected groups of diseases, mainly, neurological, hematological, and hereditary metabolic ones. Medication plans including an OMP show in the 45.9% of the cases a high level of complexity, both in terms of nature and number of co-prescribed treatments. Off-label use interested 15.3% (n = 155) of all the RD patients with at least an OMP prescription during the study period. Conclusion: Data collected in a real-world setting through population-based registries globally monitoring RD patients, including related medication plans, have the potential to identify which diseases, and thus patients, have less benefit from the advent of OMP so far. Furthermore, in the rapidly evolving RD therapeutic landscape, they can help understand which therapeutic areas are most in need of investment to address existing unmet care needs.

[The impact of the use of treatments not included in the reimbursement classes in the care of rare patients: a real world study.] / L'impatto dell'uso dei trattamenti non compresi nelle classi di rimborsabilità nella presa in carico dei malati rari: uno studio in campo reale.

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. METHODS: The study is based on data derived from the Veneto region RD registry. For the period 2019-2020, we have analyzed the prescriptions of treatments defined as essential and not replaceable, besides their reimbursement status, included in therapeutic plans issued by RD expert Centres for patients resident in the Veneto region (north-east of Italy, 4.9 million inh.). The correspondent pharmaceutical costs have been estimated as well. RESULTS: In the study period there have been 22.186 prescriptions, included in 9,197 therapeutic plans issued for RD patients resident in the monitored area. The plans present a high level of complexity in terms of number and type of prescribed treatments, with 11% of the plans containing 5 or more prescriptions. 3,041 medicinal products have been prescribed in the study period, of whom 41% are drugs. Although these prescriptions are distributed among all the groups of RD patients, only a limited proportion of products (n=10) is responsible of the 50% of all the costs attributable to these treatments. Overall, the annual cost attributable to essential treatments not directly reimbursed by the national health system is quantifiable in 1 million euros per million inhabitants. CONCLUSIONS: This real-world study offers a snapshot of the complexity of treatments defined as essential, besides their reimbursement status, in therapeutic plans issued by RD expert Centres for a consistent group of RD patients monitored by a population-based registry. It highlights the complexity of the therapeutic approaches put in place for the care of RD patients, including drugs and a variety of other treatments. Population-based registries collecting data on prescribed treatments can contribute to understand the therapeutic needs of RD patients, treatments' accessibility and the impact of prescriptions on the global pharmaceutical costs.

Inflammatory bowel disease developing in paediatric and adult age.

BACKGROUND AND OBJECTIVE: In recent decades, there has been a significant increase in the incidence of inflammatory bowel disease (IBD). It has yet to be established whether the manifestations of IBD are similar in paediatric and adult ages. The objective of this study was to compare the phenotypic expression of the disease between patients with childhood-onset IBD and adulthood-onset cases, all afferent to the same clinical centre. PATIENTS AND METHODS: Descriptive and multivariate analyses were completed on retrospective and prospective data of paediatric-onset and adult-onset consecutive cases who were diagnosed and followed at the same tertiary referral hospital of the University of Padua, Italy, during a period of 14 years (1994-2008). Paediatric-onset patients were further divided into age brackets (0-5, 6-12, and 13-17 year-olds). Analyses were conducted using the SAS package, version 9.1 (SAS Institute Inc, Cary, NC). RESULTS: Three hundred twelve patients were analysed. At disease onset, the manifestations which were more frequent among the 133 paediatric patients (50.4% with diagnosis of Crohn disease [CD], 43.6% with ulcerative colitis, and 6% with unclassified IBD) with respect to the adult-onset patients were perianal disease (12.8%) (P < 0.0001) and extraintestinal manifestations (14.3%) (P = 0.043). Among the 179 adult patients (55.3% with diagnosis of ulcerative colitis, 36.3% with CD, and 8.3% with unclassified IBD) instead, severe abdominal pain (P = 0.008), diarrhoea (P = 0.005), and anorexia (P < 0.0001) were more frequently observed. During the follow-up, the presence of extraintestinal manifestations (50.4%) (P = 0.005) and perianal disease (44.8% of the patients with childhood-onset CD) (P = 0.006) was observed more often in the paediatric-onset group. CONCLUSIONS: In our cases, the phenotypic expression of IBD developing in paediatric age differs from that seen in adults.

The role of antiphospholipid antibodies toward the protein C/protein S system in venous thromboembolic disease.

The association between venous thromboembolism (VTE) and antibodies anti-Protein C (PC)/Protein S (PS) is still uncertain. We performed a case-control study to determine the risk of VTE related to the presence of these auto-antibodies considered independently of the presence of lupus anticoagulant (LAC) or anti-cardiolipin antibodies (ACA). One hundred thirty-five patients with idiopathic VTE and 164 healthy subjects were enrolled. Anti-PC and anti-PS antibodies (both IgG and IgM) were assessed using commercially available ELISA kits. Among cases there was a higher prevalence of elevated anti-PC IgM antibodies than in controls (OR 2.44, 95%CI 1.00-5.94). The presence of anti-PC IgG and anti-PS IgG and IgM antibodies was also higher in cases than in controls, but the difference was not statistically significant. Only five patients had both anti-PC or anti-PS antibodies and LAC or ACA. We performed a stepwise multivariate logistic regression analysis showing that anti-PC IgM>958 percentile was a significant predictor of VTE after adjustment for LAC or ACA (OR 2.52, 95%CI 1.01-6.24)). Larger prospective studies are needed to confirm this finding.

Hospitalization of children with sickle cell disease in a region with increasing immigration rates.

Sickle cell disease (SCD) has become a paradigm of immigration hematology in Europe. Accurate up-to date information is needed to determine SCD prevalence, define real burden of disease and develop appropriate clinical networks of care, especially in regions lacking screening programs. We used two independent sources of data (Regional Register of Rare Disorders and Regional Register of Hospital Discharge Records) to determine extent of SCD and pattern of hospitalization of pediatric patients in the Veneto Region of NorthEast Italy. A steady increase of case notifications and hospitalizations has been observed in the past five years. Ninety-five percent of patients are immigrants with HbS/HbS SCD. Specialized regional registers can be used to define disease extent and guide targeted interventions in regions still lacking comprehensive care screening programs.

[Rehabilitation in the Veneto Region: towards a logic of clinical governance]. / L'offerta assistenziale riabilitativa nella Regione Veneto: verso una logica di governo clinico.

OBJECTIVES: to describe the rehabilitation services provided by the health system in the Veneto Region (4.7 million population) in terms of their organizational setting, the number of patients rehabilitated, the activities involved, the human resources and the costs to the healthcare system. DESIGN AND SETTING: a cross-sectional study based on several approaches. Rehabilitation activities for inpatients were explored using hospital discharge records, while territorial activities were assessed from specific data covering accredited centers and an ad hoc questionnaire completed by each rehabilitation center. Indexes of the rehabilitation services provided were calculated for each Local Health Agency and Region. The rehabilitation activities, the number of patients involved and the service provided by each center were explored by multiple correspondence analysis. MAIN OUTCOME MEASURES: the organizational setting and workload of the rehabilitation centers, the services delivered and activities involved, the human resources employed and the estimated costs to the healthcare system. RESULTS: in 2002, 320 rehabilitation centers (80.6% of them for outpatients) and 2,500 full-time equivalent personnel took care of about 300,000 patients delivering more than 5.5 million treatment sessions. Patients were under 17 years old in 19.3% of cases. The service varied considerably within and between Local Health Agencies. Rehabilitation mainly concerned physical (58.7%) and psychological treatments (19.1%) and speech therapy (3.7%). The rehabilitation facilities dedicated to one particular activity tended to take care of a large number of patients with a low complexity profile, e.g. those needing physical exercises, while facilities providing services that demand a multidisciplinary approach dealt with fewer patients, who were mostly children. The total cost of rehabilitation was estimated at 659 million Euro. CONCLUSION: rehabilitation activities have a great impact on health service users and providers, with related costs that were estimated to be about one third of the amount normally allocated to hospital services. There was no homogeneity of the facilities provided for outpatients in terms of type of rehabilitation, number of patients, services provided, and resources used Although activities involving outpatients represented the vast majority of the service provided, no systematic data are currently available on this area. A data flow on outpatient rehabilitation would afford a unique opportunity for clinical governance and cost containment.

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

Background: 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). Methods: Longitudinal cohorts of patients born in the years 1988 to 1998 and enrolled in the VRRDR in their paediatric age were identified. Data referred to this group of patients, experiencing transition from paediatric to adult age during the years 2006⁻2016, are presented. Results: 2153 RD patients (44.1% females and 55.9% males) passed from childhood to adulthood in the study period, corresponding to a 3-fold increase from 2006 to 2016. The majority of these patients was affected by congenital anomalies (32.0%), by hematologic diseases (15.9%), eye disorders (12.1%) and neoplasms (7.9%). RD patients who experienced transition from paediatric age to adulthood represent the 9.2% of adult patients enrolled in the Registry at 31 December 2016. Conclusions: We described a subset of RD young adults experiencing transition into adulthood. The data reported can be considered as minimum values for estimating the size of this increasing population presenting specific transition needs. These figures are valuable for clinicians, patients and health planners. Public policy interventions are needed in order to promote dedicated care transition pathways in the broader framework of health policies devoted to RD.

[How current data can guide mother-infant health planning. An insight into data sources and methodologies]. / Può l'informazione corrente orientare la programmazione per l'area materno-infantile? Fonti e metodi a confronto.

OBJECTIVES: To evaluate how Hospital Discharge Records (SDO) and Certificates of Delivery Care (CEDAP) can be utilized to determine the number of deliveries and births; to calculate indicators for monitoring mother-infant health status, the exposure to risk factors during pregnancy and the health care provided. DESIGN AND SETTING: CEDAP and SDO of all patients admitted to any hospital in the Veneto Region (4.7 million inhabitants, about 44,000 births) during the year 2003 were considered. An area-based study on deliveries and births, a retrospective cohort study on pregnancies, and a prospective cohort study on newborns up to the first year of age were performed to calculate health indicators. These indicators were compared to two official data sources: National Institute of Statistics (ISTAT) and Italian National Institute of Health (ISS). MAIN OUTCOME MEASURES: Descriptive indicators concerning mother-infant health status (conception, pregnancy, delivery, newborns and events during the first year of age). RESULTS: SDO provide highly accurate data on pregnancies, births and stillborns, which overlap with values reported by ISTAT Combining data from SDO and CEDAP with findings fom the process of tracking mothers and infants'cohorts, allows the calculation of many indicators on conception (n. 9), pregnancy (n. 8), delivery (n. 8), newborn (n. 15), and events during the first year of age (n. 6). In the Veneto Region the general fertility rate is 40.95% per hundred, with a relatively late mean age at delivery (32 years). Pregnant women undergoing prenatal invasive procedures are 23.5% and the caesarean section rate is 29%. Infants born to foreign mothers are 16%, whereas 2.5% are conceived through assisted reproduction techniques, 0.9% are very low birth weight, and 0.3% are extremely low birth weight; neonatal and infant mortality rates are 2.2% per hundred and 2.9% per hundred respectively. CONCLUSION: The proposed system is immediately feasible also at a local level, making reliable and informative data available to guide health policies.

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). RESULTS: Only 28% of health care providers arrived at a definite diagnosis when the child was in his/her first year of age, 51% when the child was 2-3 years old and 21% from age of 4 years and up. On average, the latency between the time of the diagnosis and its communication to the family was 6.9 months. However, a number of families did not ever have a diagnosis communicated to them. Sometimes, 68% of the providers did not communicate a PDDs diagnosis to patient's families, and 4% of them quite commonly. CONCLUSION: The well-known delay in making a diagnosis of PDDs has two distinct components: one relating to the difficulty of confirming a diagnosis of PDDs, the other, hitherto unrecognized, relating to the family being notified.

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. The registry is based on a web-based system accessed by different users. Cases are enrolled by two different sources: clinicians working at Centers of expertise officially designated to diagnose and care patients with rare diseases and health professionals working in the local health districts. Deaths of patients are monitored by Death Registry. RESULTS: So far, 19,547 patients with rare diseases have been registered, and 23% of them are pediatric cases. The overall raw prevalence of the rare diseases monitored in the population under study is 33.09 per 10,000 inhabitants (95% CI 32.56-33.62), whilst the overall incidence is 3.85 per 10,000 inhabitants (95% CI 3.67-4.03). The most commonly-recorded diagnoses belong to the following nosological groups: congenital malformations (Prevalence: 5.45/10,000), hematological diseases (4.83/10,000), ocular disorders (4.47/10,000), diseases of the nervous system (3.51/10,000), and metabolic disorders (2,95/10,000). Most of the deaths in the study population occur among pediatric patients with congenital malformations, and among adult cases with neurological diseases. Rare diseases of the central nervous system carry the highest fatality rate (71.36/1,000). Rare diseases explain 4.2% of general population Years of Life Lost (YLLs), comparing to 1.2% attributable to infectious diseases and 2.6% to diabetes mellitus. CONCLUSIONS: Our estimates of the burden of rare diseases at population level confirm that these conditions are a relevant public health issue. Our snapshot of their epidemiology is important for public health planning purposes, going to show that population-based registries are useful tools for generating health indicators relating to a considerable number of rare diseases, rather than to specific conditions.

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. All subjects underwent a visual, mental, and psychomotor evaluation at 1 year of age. RESULTS: Of the SGA cases, 41% had a "below normal" visual acuity versus 17.7% of the AGA controls. At 1 year of age the SGA babies showed an odds ratio of 18.73 for low visual acuity, 9.09 for low mental performance, and no significant risk for a decreased psychomotor performance. CONCLUSIONS: In this small cohort of premature infants, the SGA babies were more prone to developing low visual performance and abnormal cognitive development.

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. One hundred five children were recruited (39 constraint-induced movement therapy, 33 intensive bimanual training, 33 standard treatment). Constraint-induced movement therapy and intensive bimanual training groups had significantly improved hand function, showing constant increase in time. Grasp improved immediately and significantly with constraint-induced movement therapy, and with bimanual training grasp improved gradually, reaching the same result. In both, spontaneous hand use increased in long-term assessment.

Hemorragia pós-parto / Postpartum hemorrhage

Hemorragia pós-parto (HPP) é a principal causa de morte materna em países em desenvolvimento. Neste artigo, revisaremos os principais conceitos sobre o tema, especialmente aqueles referentes à prevenção e tratamento.

Postpartum hemorrhage is the leading cause of maternal mortality in developing countries. The aim of this article is to review the main aspects of this subject, focusing on prevention and treatment