An Intriguing Case of Anaemia and Splenomegaly

Objectives: Thrombocytopenia and splenomegaly are common features in several haematological disorders. Gaucher disease (GD) is a rare lysosomal storage disorder frequently characterized by thrombocytopenia and splenomegaly, which represents a clinical challenge for haematologists and internists. Case: We describe the case of a 37-year-old patient with a diagnosis of spherocytosis since childhood, who developed hepatic failure and presented striking features of GD including hepatosplenomegaly, bone fractures and post-partum bleeding. We reconsidered the diagnosis of spherocytosis and investigated Gaucher disease. Conclusion: GD should be considered in the differential diagnosis of thrombocytopenia and splenomegaly

Fine particle concentrations in buses and taxis in Florence, Italy

On October 2004, a sampling survey was carried out in Florence to estimate urban fine particle exposure concentrations inside commuting vehicles during workdays characterized by heavy traffic. Portable samplers were positioned inside four regularly scheduled diesel-powered buses and four taxis during eight weekdays. Each sampler consisted of a 2.5 μm size pre-separator cyclone, a direct-reading data logging photometer (pDR-1200), and a 4 L min−1 filter sampler for the determination of PM2.5 mass concentration. Based on reflectance analysis measurements, a PM2.5 Black Smoke Index was determined for each filter, and the elemental composition of the PM2.5 was analyzed by Particle Induced X-ray Emission (PIXE). PM2.5 mass concentrations inside the vehicles correlated well with the urban ambient air PM2.5 concentrations measured at the fixed-site monitoring stations. The PM2.5 excess above the urban ambient level was on average 32 μg m−3 (range: 22–52 μg m−3) and 20 μg m−3 (range: 11–29 μg m−3) in buses and taxis, respectively. The PM2.5-bound sulfur concentration was also higher in the buses than in the taxis. Based on daily Time-Microenvironment-Activity-Diary (TMAD) data, the Florentines spend on average 9.7% of their day in traffic, and the corresponding average exposure is approximately 12% of their daily PM2.5 personal exposure. The obtained data could be used to plan interventions to minimize the PM2.5 citizen exposures in commuting.This work is a part of the EU 5-FP funded and WHO/ECEH coordinated HEARTS-project.Peer reviewe

How future surgery will benefit from SARS-COV-2-related measures: a SPIGC survey conveying the perspective of Italian surgeons

COVID-19 negatively affected surgical activity, but the potential benefits resulting from adopted measures remain unclear. The aim of this study was to evaluate the change in surgical activity and potential benefit from COVID-19 measures in perspective of Italian surgeons on behalf of SPIGC. A nationwide online survey on surgical practice before, during, and after COVID-19 pandemic was conducted in March-April 2022 (NCT:05323851). Effects of COVID-19 hospital-related measures on surgical patients' management and personal professional development across surgical specialties were explored. Data on demographics, pre-operative/peri-operative/post-operative management, and professional development were collected. Outcomes were matched with the corresponding volume. Four hundred and seventy-three respondents were included in final analysis across 14 surgical specialties. Since SARS-CoV-2 pandemic, application of telematic consultations (4.1% vs. 21.6%; p < 0.0001) and diagnostic evaluations (16.4% vs. 42.2%; p < 0.0001) increased. Elective surgical activities significantly reduced and surgeons opted more frequently for conservative management with a possible indication for elective (26.3% vs. 35.7%; p < 0.0001) or urgent (20.4% vs. 38.5%; p < 0.0001) surgery. All new COVID-related measures are perceived to be maintained in the future. Surgeons' personal education online increased from 12.6% (pre-COVID) to 86.6% (post-COVID; p < 0.0001). Online educational activities are considered a beneficial effect from COVID pandemic (56.4%). COVID-19 had a great impact on surgical specialties, with significant reduction of operation volume. However, some forced changes turned out to be benefits. Isolation measures pushed the use of telemedicine and telemetric devices for outpatient practice and favored communication for educational purposes and surgeon-patient/family communication. From the Italian surgeons' perspective, COVID-related measures will continue to influence future surgical clinical practice

Global disparities in surgeons’ workloads, academic engagement and rest periods: the on-calL shIft fOr geNEral SurgeonS (LIONESS) study

: The workload of general surgeons is multifaceted, encompassing not only surgical procedures but also a myriad of other responsibilities. From April to May 2023, we conducted a CHERRIES-compliant internet-based survey analyzing clinical practice, academic engagement, and post-on-call rest. The questionnaire featured six sections with 35 questions. Statistical analysis used Chi-square tests, ANOVA, and logistic regression (SPSS® v. 28). The survey received a total of 1.046 responses (65.4%). Over 78.0% of responders came from Europe, 65.1% came from a general surgery unit; 92.8% of European and 87.5% of North American respondents were involved in research, compared to 71.7% in Africa. Europe led in publishing research studies (6.6 ± 8.6 yearly). Teaching involvement was high in North America (100%) and Africa (91.7%). Surgeons reported an average of 6.7 ± 4.9 on-call shifts per month, with European and North American surgeons experiencing 6.5 ± 4.9 and 7.8 ± 4.1 on-calls monthly, respectively. African surgeons had the highest on-call frequency (8.7 ± 6.1). Post-on-call, only 35.1% of respondents received a day off. Europeans were most likely (40%) to have a day off, while African surgeons were least likely (6.7%). On the adjusted multivariable analysis HDI (Human Development Index) (aOR 1.993) hospital capacity > 400 beds (aOR 2.423), working in a specialty surgery unit (aOR 2.087), and making the on-call in-house (aOR 5.446), significantly predicted the likelihood of having a day off after an on-call shift. Our study revealed critical insights into the disparities in workload, access to research, and professional opportunities for surgeons across different continents, underscored by the HDI

Perspectivas epidemiológicas, clínicas e terapêuticas do transtorno bipolar em comorbidade com o uso de drogas: revisão de sistemática: Epidemiological, clinical and therapeutic perspectives of bipolar disorder in comorbidity with drug use: a systematic review

Conhecida como transtorno maníaco-depressivo, atualmente possui um novo nome: Transtorno Afetivo Bipolar, visto que com o passar do tempo foi se percebendo que esse transtorno não se tratava de uma alteração psicótica, e mais de um prejuízo afetivo. O transtorno bipolar possui alguns tipos, não se caracterizando em apenas uma forma, sua manifestação varia conforme o indivíduo e suas tendências, disforia e/ou euforia porém independente da forma expressa o paciente bipolar pode ter sua vida social comprometida, se não tratada, visto a irregularidade no estado de humor; bem como pode fazer uso de substâncias psicoativas, o que prejudica a sua condição clínica. Objetivo central da pesquisa é de apresentar a correlação do transtorno bipolar com o uso de drogas, mediante uma revisão de literatura integrativa realizada entre os meses de março de 2022 a julho de 2022, através da busca de artigos científicos nos bancos de dados online PubMed, Scielo e Google Acadêmico, utilizando como critério de refinamento de pesquisa artigos de todas as línguas publicados entre os anos 2000 e 2022

Mielomeningocele e anomalias associadas: uma série de casos e revisão sistemática

A mielomeningocele é uma malformação congênita grave do sistema nervoso central, representando um dos tipos mais complexos de defeitos do tubo neural. A condição é marcada pela exposição das meninges e, em alguns casos, da medula espinhal, através de uma abertura na coluna vertebral, desafiando tanto o prognóstico do paciente quanto as estratégias de tratamento. O presente estudo visa explorar os avanços recentes no diagnóstico, intervenções cirúrgicas e desfechos neurológicos associados à mielomeningocele, com foco particular na eficácia e segurança das abordagens atuais. Para isso, foi realizada uma revisão sistemática da literatura de 2016 a 2024 nas bases de dados PubMed (Medline), Cochrane Library e SciELO, aplicando critérios de inclusão e exclusão rigorosos para selecionar estudos que abordassem esses aspectos. Três estudos chave foram analisados, destacando-se pelas técnicas de diagnóstico antenatal, pela utilização de intervenções cirúrgicas inovadoras, como o fechamento fetal, e pelos cuidados pós-operatórios visando melhorias nos desfechos neurológicos. Os resultados indicam uma tendência positiva na melhoria da qualidade de vida dos pacientes, com avanços significativos no controle e na prevenção de complicações a longo prazo. No entanto, foi observada a necessidade de uma abordagem multidisciplinar no tratamento, integrando cuidados neurocirúrgicos, ortopédicos e reabilitativos. A mielomeningocele, apesar dos desafios, tem testemunhado progressos notáveis nas últimas décadas, sugerindo um futuro mais promissor para os pacientes afetados. Ainda assim, são necessários mais estudos para consolidar essas abordagens e otimizar as estratégias de tratamento na prática clínica

Synesthesia in a congenitally blind individual

Synesthesia represents an atypical merging of percepts, in which a given sensory experience (e.g., words, letters, music) triggers sensations in a different perceptual domain (e.g., color). According to recent estimates, the vast majority of the reported cases of synesthesia involve a visual experience. Purely non-visual synesthesia is extremely rare and to date there is no reported case of a congenitally blind synesthete. Moreover, it has been suggested that congenital blindness impairs the emergence of synesthesia-related phenomena such as multisensory integration and cross-modal correspondences between non-visual senses (e.g., sound-touch). Is visual experience necessary to develop synesthesia? Here we describe the case of a congenital blind man (CB) reporting a complex synesthetic experience, involving numbers, letters, months and days of the week. Each item is associated with a precise position in mental space and with a precise tactile texture. In one experiment we empirically verified the presence of number-texture and letter-texture synesthesia in CB, compared to non-synesthete controls, probing the consistency of item-texture associations across time and demonstrating that synesthesia can develop without vision. Our data fill an important void in the current knowledge on synesthesia and shed light on the mechanisms behind sensory crosstalk in the human mind

Associated Effect of SLC40A1 and TMPRSS6 Polymorphisms on Iron Overload

Mutations in the ferroportin (FPN) gene SLC40A1 alter iron recycling and cause disturbances in iron homeostasis. The variants of TMPRSS6 contribute to the development of iron deficiencies. In this study, we determined the role of FPN and TMPRSS6 gene polymorphisms in the modulation of iron homeostasis based on biochemical parameters. PCR analysis and sequencing were performed to determine the single nucleotide polymorphisms (SNPs) SLC40A1 c.44–24G>C (rs1439816), SLC40A1 c.663T>C (rs2304704), and TMPRSS6 c.2207T>C (rs855791). Hemoglobin concentration and iron status were determined by standard procedures. We studied 79 iron-loaded individuals for SLC40A1 polymorphisms. Interestingly, 35/79 individuals with SLC40A1 SNPs also carried a TMPRSS6 c.2207T>C polymorphism. The biochemical values of the iron overloaded individuals were compared to those of the individuals carrying TMPRSS6 SNPs and the healthy individuals (wild-type group). The ferritin concentration, transferrin saturation % (TS%), and hemoglobin concentration were significantly higher in the participants with FPN SNPs than in the other three groups. The ferritin concentration and TS% were higher in participants with both SLC40A1 and TMPRSS6 SNPs than in the TMPRSS6 and wild-type groups, while hemoglobin concentration was significantly higher than that in the TMPRSS6 SNP group only. The participants with TMPRSS6 SNPs had significantly lower ferritin concentration, TS%, and hemoglobin concentration than all the other groups. SLC40A1 and TMPRSS6 SNPs might act in the opposite direction, preventing the development of severe iron overload, and the modulation of the iron status by TMPRSS6 SNPs might provide protection

The Italian Space Agency ROSA receiver: update on data analysis and future outlook

ROSA is a dual-frequency GPS receiver developed for space applications and tailored for GPS radio occultation studies and is currently flying on-board three satellites: the Indian OCEANSAT-2, the Argentinean SAC-D and the Indian/French MEGHA-TROPIQUES. Availability of ROSA data is seen as an opportunity by the scientific community to cover the 2013-2016 gap that will be left by the decommissioning of the Taiwan/US COSMIC-FORMOSAT3 constellation. This paper will provide an overview of signal ROSA quality in the neutral and ionized terrestrial atmosphere, in view of the delivery of ROSA observations to the user community. In particular, in this contribution a quality check comparative analysis between ROSA data collected on-board SAC-D and OCEANSAT-2 is shown. This deep analysis compares observability performances of the same instrument on-board two different satellite missions, putting in evidence the goodness of ROSA instrument on board the Argentinean platform against the unsatisfactory L2 performances the instrument showed on-board OCEANSAT-2. Causes of these non-satisfactory performances should be probably searched in the critical position of the ROSA antenna on-board the platform, and in the corresponding strong local multipath effects which create serious difficulties in the acquisition and tracking of the L2 signal. On the contrary, the quality of both rising and setting raw data acquired on-board SAC-D is completely different, demonstrating the criticality of having a good accommodation for the occultation antennas. A very limited (and “physiological”) number of data gaps is observed and impact heights of L1 and L2 start tracking are in line with all the others Radio Occultation sounders currently flying. An attempt of inverting data observed on-board the Argentinean mission was made using a non optimized inversion tool developed in Italy and preliminary results will be shown. Results of ROSA on MEGHA-Tropique platform are of the same level of the SAC-D results, i.e. good acquisition and tracking on both L1 and L2. The effectiveness of ROSA receiver in sounding the ionosphere will be demonstrated comparing electron density profiles (Ne) retrieved applying the Onion Peeling algorithm to OCEANSAT-- -derived TECs and SAC-D-derived TECs, against collocated products derived by the CDAAC COSMIC/FORMOSAT3 Radio-Occultation observations. These aspects are very important since the next few years will be characterized by high solar activity and, without the US/TAIWAN constellation, the number of ionospheric occultation products will be necessarily reduced. Finally, some ideas related the ROSA receiver hardware and on-board software updates will also be discussed

Towards an electronic grade nanoparticle-assembled silicon thin film by ballistic deposition at room temperature: the deposition method, and structural and electronic properties

High-throughput plasma synthesis of highly crystalline nanoparticle-assembled silicon thin films.</p