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. For this reason, the Italian Superior Health Council (CSS) has appointed a working Group to address "patients with a rare disease as potential organ donors," with the aim of devising recommendations for the management of transplant cases in which the donors have a rare disease. This group evaluated 493 diseases (10% of all rare diseases, including over 95% of patients with a rare disease) to deliver a technical report dealing with the suitability of organ donation and transplantation, with a focus on the organs most frequently used, including kidney, liver, heart, lung, and pancreas. This work has made it clear that a rare disease "per se" does not contraindicate organ donation at all. Indeed, in donors affected by a rare disease, almost 80% of the organs are suitable for transplantation, approximately 7% are unsuitable, and approximately 14% are suitable as non-standard with an acceptable risk.

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). METHODS: A retrospective cohort study has been developed including all singleton live births reported in the Veneto Region Birth Registry between 2003 and 2018 to mothers living in the contaminated and in a control area. We estimated the association between mothers' area of residence and severe SGA using crude RR (and 95% CI) and stepwise logistic regression, including all the maternal characteristics. RESULTS: The study included 105,114 singleton live births. The occurence of severe SGA was 3.44% in the contaminated area and 2.67% in the control area. The multivariate analysis confirmed that living in the contaminated area significantly increased the odds of severe SGA (adjusted OR 1.27 (95% C.I. 1.16, 1.39)). CONCLUSIONS: The findings suggest that living in a contaminated area by PFAS plays a role in affecting fetal growth and support the hypothesis that PFAS exposure is a risk factor for SGA. Individual data on exposure are needed to confirm the direct association.

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. The characteristics of the lesion, compared to the temporal evolution of the healing process, and the witnesses' depositions led us to assume that the time elapsed between the abusive event and the physical examination was longer in respect to what had appeared at the first sight. The judicial reconstruction of the events confirmed our assumption, allowing the charge of the right abuse perpetrator. As the literature regarding this eventuality is very poor, we report this case to stress the importance for physicians to consider that an active bleeding may be the manifestation of a trauma that occurred very long before.

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.

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). The document was prepared by a multidisciplinary team (paediatric endocrinologists, paediatrician, radiologist, geneticist and epidemiologist) to focus on the investigation of children with suspected SHOX- deficiency (SHOX-D) for an early identification and a correct diagnostic work - up of this genetic disorder. On the basis of a number of screening studies, SHOX-D appears to be a relatively frequent cause of short stature. The following recommendations were suggested by our multidisciplinary team: (i) a careful family history, measurements of body proportions and detection of any dysmorphic features are important for the suspect of a genetic disorder ,(ii)the presence of any combination of the following physical findings, such as reduced arm span/height ratio, increased sitting height/height ratio, above average BMI, Madelung deformity, cubitus valgus, short or bowed forearm, dislocation of the ulna at the elbow, or the appearance of muscular hypertrophy, should prompt the clinician to obtain a molecular analysis of the SHOX region, (iii) it is of practical importance to recognise early or mild signs of Madelung deformity on hand and wrist radiographs, (iv) growth hormone ,after stimulation test, is usually normal. However, treatment with rhGH may improve final adult height; the efficacy of treatment is similar to that observed in those treated for Turner syndrome.

Is Cannabis Legalization Eliciting Abusive Behaviors in Parents? A Case Report.

The interest in cannabis, cannabis-based compounds, and treatments is rapidly growing along with the legalization of marijuana in many countries and widespread use of cannabis derivatives in medical products. A growing body of literature is warning about possible unintentional intoxication in children because of unregulated and unsupervised use of cannabinoids by parents; to our knowledge, very rarely have parental self-prescription and self-administration to their children (affected by neurologic or other disorders or no disorders at all) been reported. We report a 4-year-old child, suffering from an anti-N-methyl-D-aspartate receptor encephalitis, who was found unpredictably positive for cannabis and other illicit substances after drug testing was performed in order to investigate the child's treatment-resistant behavioral disturbances. Toxicologic analyses were also extended to the child's parents, who finally disclosed that they had deliberately administered a cannabis-derived product (cannabidiol extract) as a home remedy for managing their child's behavior. Careless with regard to the possible adverse effects and certain that the product was legal, they presumed there was no need for them to inform the physicians in charge of treating the child of this practice.

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.

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. METHODS: We performed a descriptive analysis of data collected at the CHB Legal Medicine Service. RESULTS: In five years, are recorded a total amount of 1,491 admissions for domestic violence of which 1307 were females. About 80% of all female cases are represented by the 11-40 age range and, in almost 90% the aggressor was the current or past partner. More than 75% were cases of repeated violence and in more than 60% there were minors attending the phenomenon. CONCLUSION: It is crucial to act immediately and with a multi-disciplinary approach in order to fight domestic violence, especially against women due to its dramatic consequences as isolation, inability to work, loss of wages, lack of participation in regular activities and limited ability to care for themselves and their children.

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.

Characteristics of children with vomiting after minor head trauma: a case-control study.

OBJECTIVE: To study selected factors associated with vomiting after minor head trauma in children. STUDY DESIGN: During a 1-year study, 1097 children with a minor head injury were consecutively discharged from the pediatric emergency department; 162 had associated vomiting. A case-control study was conducted, with each subject matched with 2 children of the same age group with a minor head injury who did not have associated vomiting. Final analysis was conducted in 148 case subjects and 296 matched control subjects. RESULTS: With univariate analysis, a personal history of recurrent headache (6.1% versus 2.4%), motion sickness (27% versus 11.8%), and recurrent vomiting (6.1% versus 0.7%) were significantly more common in the vomiting group, as was a family history of recurrent headache in parents (45.9% versus 27%) or motion sickness in parents (26.4% versus 15.2%) or siblings (14.2% versus 3.7%). The strongest predictors of vomiting were a personal history of recurrent vomiting (odds ratio, 5.90; 95% CI, 1.18-29.47), motion sickness (odds ratio, 2.34; 95% CI, 1.32-4.10), headache at the time of the injury (odds ratio, 4.37; 95% CI, 2.23-8.57), and a strong family history of the same recurrent problems (odds ratio, 1.66; 95% CI, 1.29-2.13). CONCLUSIONS: Post-traumatic vomiting is significantly related to personal or familial predisposition to vomit rather than to the presence of intracranial lesions.

[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.

El 31 de diciembre de 2019 las autoridades de la República Popular China comunicaron a la OMS varios casos de neumonía de etiología desconocida en Wuhan, una ciudad situada en la provincia China de Hubei. [Editorial] / On December 31, 2019, the authorities of the People's Republic of China reported to the WHO several cases of pneumonia of unknown etiology in Wuhan, a city located in the Chinese province of Hubei. [Editorial]

Resumen El 31 de diciembre de 2019 las autoridades de la República Popular China comunicaron a la OMS varios casos de neumonía de etiología desconocida en Wuhan, una ciudad situada en la provincia China de Hubei. Una semana más tarde confirmaron que se trataba de un nuevo coronavirus que ha sido denominado SARS-CoV-2 (coronavirus de tipo 2 causante del síndrome respiratorio agudo severo, del inglés, Severe acute respiratory syndrome coronavirus. Este nuevo virus causa diversos cuadros clínicos englobados bajo el término COVID-19 (enfermedad por coronavirus 2019, del inglés, coronavirus disease 2019), e incluyen desde infección asintomática, a cuadros respiratorios leves con tos, malestar general y fiebre hasta cuadros de neumonía grave con síndrome de distrés respiratorio agudo, shock séptico y fallo multi-orgánico y muerte. La mayoría de los casos de COVID-19 notificados hasta el momento cursan con cuadros leves; no obstante, tanto el pronóstico de la enfermedad como el conocimiento actual, basado en los datos más ecientes publicados y los pacientes ya tratados, indican que un porcentaje significativo de pacientes cursaran con insuficiencia respiratoria aguda, neumonía intersticial e hipoxemia grave que requieren ventilación mecánica prolongada y presentan una mortalidad elevada. La expansión del virus a todo el planeta, su capacidad de difusión y su infectividad, el elevado número de afectados en crecimiento exponencial, una mortalidad creciente con la edad y la comorbilidad de los afectados, así como su impacto sobre la vida de las personas y el sistema de asistencia sanitaria han provocado una emergencia sanitaria mundial de grandes proporciones. La Coordinación General de Docencia, conjuntamente con los diferentes servicios de esta casa de salud, participó de una manera activa y actualizada con información referente al COVID-19, destacamos los siguientes temas: Imagenología en tiempos de pandemia; embarazo y covid-19; miocardiopatía y COVID-19; planificación de una unidad de reanimación ante una pandemia y experiencia clínica; utilidad del ultrasonido en unidades críticas COVID-19; recomendaciones y experiencias para ecocardiografía y eco pulmonar en tiempos de COVID-19; cirugía plástica y quemaduras durante la pandemia; Kawasaki-like y COVID-19; VIH y COVID-19 historia natural; hemodiálisis en tiempos de COVID-19; plasma convaleciente e inmunidad en pacientes COVID-19; prevención y vacuna en COVID-19; abordaje del recién nacido con mal formación cardiaca: tratamiento sin cirugía por cateterismo; soporte nutricional en el paciente COVID-19 crítico; eventos trombo-embolicos en pacientes COVID-19, rescate vascular cerebral en tiempos COVID-19; desafíos actuales en el manejo de infarto agudo de miocardio en tiempos de pandemia; salud mental en tiempos de COVID-19; desde la fisiopatología y Medicina Basada en Evidencias (MBE) a la práctica clínica; mensajes clave para el manejo integral del paciente grave con Insuficiencia Renal Aguda (IRA) por COVID-19; experiencias y manejo del malestar emocional durante la pandemia COVID-19; Hipertensión Arterial: análisis de las últimas Felicitamos a todos los participantes y expresamos nuestro profundo reconocimiento por su vocación de servicio y entrega para enfrentar la crisis sanitaria, asumir su rol social y constituirse en sujeto social y político, que interpreta adecuadamente la realidad y plantea soluciones que contribuyen significativamente a la resolución de los problemas sociales; cada detalle cuenta para buscar una forma de contribuir como empresa cuya misión es la Salud. La Pandemia por COVID-19 ha ocasionado grandes impactos en nuestra sociedad y nos ha entristecido en lo más profundo la partida de innumerables colegas que nos dejan huella de bondad, lealtad, solidaridad y amistad, nuestro sentido pésame a sus distinguidas familias. (au)

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.