Fatal delayed diagnosis in a patient with falciparum malaria

This is a classical case of blackwater fever which is one of the most serious hematologic complications of falciparum malaria. The clinical manifestations of this acute intravascular hemolityc anemia are fulminating and delayed diagnosis is an important cause of mortality

Factors affecting the vaccination choices of pregnant women for their children. A systematic review of the literature

In recent years, an increase in vaccine hesitancy has led to a decrease in vaccination coverage in several countries. We conducted a systematic review of studies that assessed knowledge of and attitudes toward pediatric vaccinations, and the vaccination choices and their determinants among pregnant women. A total of 6,277 records were retrieved, and 16 full texts were included in the narrative synthesis. The published literature on the topic shows that, overall, pregnant women believe that vaccines are important for the protection of their children and the community, but various concerns and misunderstandings persist around vaccine safety and efficacy, which reduce the trust of expectant mothers in immunization. Nevertheless, such attitudes and choices vary depending on the vaccine being considered and the corresponding determinants should therefore be studied in the context of each specific vaccination. Further research on this topic is needed, particularly in non-western countries

Genomics knowledge and attitudes among European public health professionals. Results of a cross-sectional survey

Background The international public health (PH) community is debating the opportunity to incorporate genomic technologies into PH practice. A survey was conducted to assess attitudes of the European Public Health Association (EUPHA) members towards their role in the implementation of public health genomics (PHG), and their knowledge and attitudes towards genetic testing and the delivery of genetic services. Methods EUPHA members were invited via monthly newsletter and e-mail to take part in an online survey from February 2017 to January 2018. A descriptive analysis of knowledge and attitudes was conducted, along with a univariate and multivariate analysis of their determinants. Results Five hundred and two people completed the questionnaire, 17.9% were involved in PHG activities. Only 28.9% correctly identified all medical conditions for which there is (or not) evidence for implementing genetic testing; over 60% thought that investing in genomics may divert economic resources from social and environmental determinants of health. The majority agreed that PH professionals may play different roles in incorporating genomics into their activities. Better knowledge was associated with positive attitudes towards the use of genetic testing and the delivery of genetic services in PH (OR = 1.48; 95% CI 1.01–2.18). Conclusions Our study revealed quite positive attitudes, but also a need to increase awareness on genomics among European PH professionals. Those directly involved in PHG activities tend to have a more positive attitude and better knowledge; however, gaps are also evident in this group, suggesting the need to harmonize practice and encourage greater exchange of knowledge among professionals

How public health professionals view mandatory vaccination in italy-a cross-sectional survey

In response to the decline in child vaccination coverage and the subsequent occurrence of large vaccine-preventable disease outbreaks, in 2017 Italy introduced a new law that made ten vaccines mandatory for children aged 0–16 years. The policy change initiated an ongoing debate among the general public, as well as in the political arena and the scientific community, over this major public health concern. Hence, we conducted a survey aimed at assessing Italian public health professionals’ attitudes towards and opinions on mandatory vaccination. A validated online questionnaire was administered to 1350 members of the Italian Society of Hygiene, Preventive Medicine and Public Health. Among the 1044 responders (response rate 77%), a large majority were in favour of the Italian mandatory vaccination law (91%) and against its repeal (74%). Nevertheless, according to our sample, maintaining a high level of vaccination coverage without the need to mandate would be preferable, and thus efforts to promote vaccine confidence and proactive vaccine uptake are still needed

Value-based genomic screening. Exploring genomic screening for chronic diseases using triple value principles

Background: Genomic screening has unique challenges which makes it difficult to easily implement on a wide scale. If the costs, benefits and tradeoffs of investing in genomic screening are not evaluated properly, there is a risk of wasting finite healthcare resources and also causing avoidable harm. Main text: If healthcare professionals - including policy makers, payers and providers - wish to incorporate genomic screening into healthcare while minimizing waste, maximizing benefits, and considering results that matter to patients, using the principles of triple value (allocative, technical, and personal value) could help them to evaluate tough decisions and tradeoffs. Allocative value focuses on the optimal distribution of limited healthcare resources to maximize the health benefits to the entire population while also accounting for all the costs of care delivery. Technical value ensures that for any given condition, the right intervention is chosen and delivered in the right way. Various methods (e.g. ACCE, HTA, and Wilson and Jungner screening criteria) exist that can help identify appropriate genomic applications. Personal value incorporates preference based informed decision making to ensure that patients are informed about the benefits and harms of the choices available to them and to ensure they make choices based on their values and preferences. Conclusions: Using triple value principles can help healthcare professionals make reasoned and tough judgements about benefits and tradeoffs when they are exploring the role genomic screening for chronic diseases could play in improving the health of their patients and populations

Long-term results from MOPPEBVCAD chemotherapy with optional limited radiotherapy in advanced Hodgkin's disease

The purpose was to verify the 5-year results of the MOPPEBVCAD chemotherapy regimen with limited radiotherapy in relation to the promising preliminary data. Mechlorethamine, vincristine, procarbazine, prednisone, epidoxorubicin, bleomycin, vinblastine, lomustine, melphalan, and vindesine were delivered according to a schedule derived through hybridization, intensification, and shortening of the corresponding alternating CAD/MOPP/ABV regimen. Radiotherapy was restricted to sites of bulky involvement or to areas that responded incompletely to chemotherapy. This multicenter, controlled, nonrandomized trial involved 145 eligible patients. Radiotherapy was administered to 47 patients, 46 of whom were in complete remission after chemotherapy. Remissions were complete in 137 patients (94%), partial in 4 (3%), and null in the remaining 4. Tumor-specific, overall, relapse-free, and failure-free survival at 5 years were 0.89, 0.86, 0.82, and 0.78, respectively. Hematologic toxicity was considerable, whereas nonhematologic side effects were fully acceptable. Most of the unfavorable prognostic factors lost their clinical weight. Only age and lymphocyte depletion histologic type were statistically correlated with major follow up endpoints; performance status and bone marrow involvement were subordinate to age. Seven patients developed a second cancer (including 3 myelodysplasias). MOPPEBVCAD with selected radiotherapy is a highly effective regimen in advanced Hodgkin\ub4s disease. Early and late toxicity are no more severe than what would be expected with other alternating or hybrid regimens. A comparison with ABVD, which is currently considered the standard regimen for advanced Hodgkin\ub4s disease, is needed

Curative Chemoradiotherapy of Primary Pancreatic Lymphoma with Vertebral Metastasis: Palliation of Persistent Biliary Stricture by Roux-en-Y Hepaticojejunostomy

Primary pancreatic lymphoma (PPL) is a rare tumor that usually presents with the clinical picture of advanced adenocarcinoma but has a much better prognosis. A 38-year-old man was referred after percutaneous transhepatic external biliary drainage for obstructive jaundice. Abdominal magnetic resonance imaging (MRI) and magnetic resonance cholangiopancreatography had revealed a 5-cm pancreatic head mass that caused biliary tract dilation. Computed tomography angiography showed that the mass encased the celiac trunk as well as the common hepatic and splenic arteries. MRI also revealed a metastatic lesion at the third lumbar vertebra. Serum carcinoembryonic antigen and carbohydrate antigen 19-9 levels were within normal range. The initial diagnosis was inoperable pancreatic adenocarcinoma; however, Tru-Cut pancreatic biopsy showed a large B cell lymphoma. After 6 sessions of chemotherapy and 21 sessions of radiotherapy, both the pancreatic mass and the vertebral metastasis had disappeared. However, he had persistent distal common bile duct stricture that could not be negotiated by either the endoscopic or percutaneous route. A Roux-en-Y hepaticojejunostomy was performed. The patient stayed alive without recurrence for 52 months after the initial diagnosis and 45 months after completion of oncologic treatment. In conclusion, a large pancreatic mass with grossly involved peripancreatic lymph nodes, without ascites, liver or splenic metastasis, should alert the clinician to the possibility of PPL. Cure is possible by chemoradiotherapy even in the presence of vertebral metastasis. Persistent stricture in the distal common bile duct may require a biliodigestive anastomosis

Hypereosinophilic syndromes

Hypereosinophilic syndromes (HES) constitute a rare and heterogeneous group of disorders, defined as persistent and marked blood eosinophilia (> 1.5 × 109/L for more than six consecutive months) associated with evidence of eosinophil-induced organ damage, where other causes of hypereosinophilia such as allergic, parasitic, and malignant disorders have been excluded. Prevalence is unknown. HES occur most frequently in young to middle-aged patients, but may concern any age group. Male predominance (4–9:1 ratio) has been reported in historic series but this is likely to reflect the quasi-exclusive male distribution of a sporadic hematopoietic stem cell mutation found in a recently characterized disease variant. Target-organ damage mediated by eosinophils is highly variable among patients, with involvement of skin, heart, lungs, and central and peripheral nervous systems in more than 50% of cases. Other frequently observed complications include hepato- and/or splenomegaly, eosinophilic gastroenteritis, and coagulation disorders. Recent advances in underlying pathogenesis have established that hypereosinophilia may be due either to primitive involvement of myeloid cells, essentially due to occurrence of an interstitial chromosomal deletion on 4q12 leading to creation of the FIP1L1-PDGFRA fusion gene (F/P+ variant), or to increased interleukin (IL)-5 production by a clonally expanded T cell population (lymphocytic variant), most frequently characterized by a CD3-CD4+ phenotype. Diagnosis of HES relies on observation of persistent and marked hypereosinophilia responsible for target-organ damage, and exclusion of underlying causes of hypereosinophilia, including allergic and parasitic disorders, solid and hematological malignancies, Churg-Strauss disease, and HTLV infection. Once these criteria are fulfilled, further testing for eventual pathogenic classification is warranted using appropriate cytogenetic and functional approaches. Therapeutic management should be adjusted to disease severity and eventual detection of pathogenic variants. For F/P+ patients, imatinib has undisputedly become first line therapy. For others, corticosteroids are generally administered initially, followed by agents such as hydroxycarbamide, interferon-alpha, and imatinib, for corticosteroid-resistant cases, as well as for corticosteroid-sparing purposes. Recent data suggest that mepolizumab, an anti-IL-5 antibody, is an effective corticosteroid-sparing agent for F/P-negative patients. Prognosis has improved significantly since definition of HES, and currently depends on development of irreversible heart failure, as well as eventual malignant transformation of myeloid or lymphoid cells

Genomica in Sanità Pubblica. Evidenze scientifiche e prospettive di integrazione nella pratica della prevenzione

I miglioramenti registrati negli ultimi anni nella qualità del sequenziamento di nuova generazione, nella riduzione dei costi associati e in una complessiva evoluzione delle scienze omiche, hanno favorito lo sviluppo della medicina personalizzata o di precisione. Ad oggi, anche a livello di popolazione si possono ottenere dei benefici rilevanti attraverso tale approccio. La Sanità Pubblica di precisione consiste nel fornire il giusto intervento, alla popolazione che ne ha necessità, nel momento e con le modalità opportune. Significa, quindi, promuovere metodologie accurate per identificare e misurare le patologie ma anche le esposizioni, i comportamenti e la suscettibilità. La Sanità Pubblica di precisione è in evoluzione e non è legata semplicemente a geni, trattamenti e malattia ma alla precisa identificazione e risposta ai bisogni di salute. È necessario, quindi, discutere dell’inclusione delle scienze omiche in Sanità Pubblica. La medicina si è evoluta da un modello di diagnosi e trattamento basato essenzialmente sui sintomi ad uno sempre più dipendente dalla definizione bioinformatica di profili di rischio e/o patologici. Tali profili sono delineati mediante la produzione di informazioni attingendo a solide banche dati biologiche con il supporto dell’intelligenza artificiale. D’altra parte l’evoluzione nella pratica sanitaria è un processo complesso che include, tra l’altro, la sostenibilità dei costi sanitari, la valutazione dell’efficienza nella pratica clinica, l'integrazione dei nuovi progressi tecnologici e la rimodulazione dell'organizzazione dei servizi. Nel Gruppo di Lavoro Genomica in Sanità Pubblica della SItI, attivo dal 2012, sono coinvolti prevalentemente docenti universitari ma anche operatori del Ministero della Salute e dei Dipartimenti di Prevenzione. In questo special issue illustriamo alcuni argomenti di ricerca trattati. Non stupirà l’eterogeneità dei temi proposti vista la trasversalità delle scienze omiche in molteplici aspetti della salute umana. In particolare sono illustrati esempi che vanno dalla prevenzione di tumori ad alta incidenza, alla prevenzione di patologie infettive, sia per gli aspetti acuti che cronici, tenendo conto di caratteristiche genetiche ed epigenetiche della popolazione. Inoltre, illustriamo le prospettive di integrazione offerte allo studio del microbiota umano nella prevenzione. Procediamo con la discussione delle modalità di valutazione dei test genetici e genomici per la loro integrazione nell’offerta del Servizio Sanitario Nazionale. Infine, è illustrato il coinvolgimento della popolazione nell’impiego delle tecnologie omiche al fine di promuovere un cambiamento culturale nei confronti delle tecnologie disponibili e nella tutela della salute individuale e collettiva