Cranial Masses in Sickle Cell Disease

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Pseudohypoparathyroidism type I-b with neurological involvement is associated with a homozygous PTH1R mutation

Pseudohypoparathyroidism type 1b (PHP1b) is characterized by hypocalcemia, hyperphosphatemia, increased levels of circulating parathyroid hormone (PTH), and no skeletal or developmental abnormalities. The goal of this study was to perform a full characterization of a familial case of PHP1b with neurological involvement and to identify the genetic cause of disease. The initial laboratory profile of the proband showed severe hypocalcemia, hyperphosphatemia and normal levels of PTH, which was considered to be compatible with primary hypoparathyroidism. With disease progression the patient developed cognitive disturbance, PTH levels were found to be slightly elevated and a picture of PTH resistance syndrome seemed more probable. The diagnosis of PHP1b was established after the study of family members and blunted urinary cAMP results were obtained in a PTH stimulation test. Integration of whole genome genotyping and exome sequencing data supported this diagnosis by revealing a novel homozygous missense mutation in PTH1R (p.Arg186His) completely segregating with the disease. Here, we demonstrate segregation of a novel mutation in PTH1R with a phenotype of PHP1b presenting with neurological symptoms, but no bone defects. This case represents the extreme end of the spectrum of cognitive impairment in PTH dysfunction and defines a possible novel form of PHP1b resulting from the impaired interaction between PTH and PTH1R

Characterization of an FTLD-PDB family with the coexistence of SQSTM1 mutation and hexanucleotide (G4C2) repeat expansion in C9orf72 gene

The C9orf72 expansion is considered a major genetic cause of familial frontotemporal dementia (FTD) in several patients' cohorts. Interestingly, C9orf72 expansion carriers, present also abundant neuronal p62-positive inclusions. Although p62/SQSTM1 mutations were initially associated with Paget disease of bone (PDB), they have been also identified in FTD. We describe an FTD-PDB family in which the proband presented with behavioral FTD phenotype and concomitant Paget disease. The molecular genetic analysis revealed the co-occurrence of 2 mutations; the pathogenic C9orf72 expansion and p.P392L heterozygous missense mutation in SQSTM1 gene. Amongst the 6 family members analyzed, the p.P392L SQSTM1 mutation segregated as expected with PDB, whereas the C9orf72 expansion segregated with frontal cognitive impairment or dementia in all but one carrier. The coexistence of these conditions could be underestimated since neither patients with FTD nor patients with PDB undergo bone scintigraphy or cognitive assessment, respectively. The number of cases with double mutations could also be over looked as the molecular strategy adopted in most laboratories ends with the identification of one pathogenic mutation in one of the known causative genes. Therefore, we advocate for further clinical and molecular evaluation in suspect cases

Clinical decision support using Open Data

First Online: 18 May 2020.The growth of Electronical Health Records (EHR) in healthcare has been gradual. However, a simple EHR system has become inefficient in supporting health professionals on decision making. In this sense, the need to acquire knowledge from storing data using open models and techniques has emerged, for the sake of improving the quality of service provided and to support the decision-making process. The usage of open models promotes interoperability between systems, communicating more efficiently. In this sense, the OpenEHR open data approach is applied, modelling data in two levels to distinguish knowledge from information. The application of clinical terminologies was fundamental in this study, in order to control data semantics based on coded clinical terms. This article culminated from the conceptualization of the knowledge acquisition process to represent Clinical Decision Support, using open data models.The work has been supported by FCT–Fundação para a Ciência e Tec-nologia within the Project Scope UID/CEC/00319/2019 and DSAIPA/DS/0084/2018

Age effect on retina and optic disc normal values

Purpose: To investigate retinal thickness and optic disc parameters by the Retinal Thickness Analyzer (RTA) glaucoma program in older normal subjects and to determine any age effect. Methods: Subjects over 40 years of age without any prior history of eye diseases were recruited. Only subjects completely normal on clinical ophthalmologic examination and on visual field testing by Humphrey Field Analyzer (HFA) using the SITA 24-2 program were included. A total of 74 eyes from 74 subjects with even age distribution over the decades were enrolled and underwent topographic measurements of the posterior pole and of the optic disc by RTA. The `glaucoma full' program in software version 4.11B was applied. Results: Mean patient age was 59.9 +/- 10.3 years with a range from 40 to 80 years. The only parameter intraocular pressure (IOP) correlated with was retinal posterior pole asymmetry (r=0.27, p=0.02). IOP itself increased significantly with age (r=0.341, p=0.003). Mean defect and pattern standard deviation of the HFA did not correlate with any of the retinal or optic disc measurements. Increasing age correlated significantly with some of the morphologic measurements of the RTA: decreasing perifoveal minimum thickness (r=-0.258, p=0.026), increased cup-to-disc area ratio (r=0.302, p=0.016) and increased cup area (r=0.338 p=0.007). Conclusions: An age effect exists for some of the retina and optic disc measurements obtained by the RTA. Copyright (C) 2005 S. Karger AG, Basel

Health trajectories of Immigrant Children (CRIAS)-a prospective cohort study in the metropolitan area of Lisbon, Portugal

Funding Information: This research was financed by the Asylum, Integration and Migration Fund (ref.PT/2018/FAMI/350) under the Multianual Financial Framework 2014/20, by the Portuguese Foundation for Science and Technology (FCT) (ref.RESEARCH4COVID-19-065) and Global Health and Tropical Medicine (GHTM), Institute of Hygiene and Tropical Medicine (IHMT), NOVA University of Lisbon, Portugal (ref.UID/04413/2020). The extension of the cohort study is financed by the Portuguese Foundation for Science and Technology (FCT) (ref.PTDC/SAU-SER/4664/2020). Publisher Copyright: © 2022 BMJ Publishing Group. All rights reserved.Purpose The CRIAS (Health trajectories of Immigrant Children in Amadora) cohort study was created to explore whether children exposed to a migratory process experience different health risks over time, including physical health, cognitive, socioemotional and behavioural challenges and different healthcare utilisation patterns. Participants The original CRIAS was set up to include 604 children born in 2015, of whom 50% were immigrants, and their parents. Recruitment of 420 children took place between June 2019 and March 2020 at age 4/5 years, with follow-up carried out at age 5/6 years, at age 6/7 years currently under way. Findings to date Baseline data at age 4/5 years (2019-2020) suggested immigrant children to be more likely to belong to families with less income, compared with non-immigrant children. Being a first-generation immigrant child increased the odds of emotional and behavioural difficulties (adjusted OR 2.2; 95% CI: 1.06 to 4.76); more immigrant children required monitoring of items in the psychomotor development test (38.5% vs 28.3%). The prevalence of primary care utilisation was slightly higher among immigrant children (78.0% vs 73.8%), yet they received less health monitoring assessments for age 4 years. Utilisation of the hospital emergency department was higher among immigrants (53.2% vs 40.6%). Age 5 years follow-up (2020-2021) confirmed more immigrant children requiring monitoring of psychomotor development, compared with non-immigrant children (33.9% vs 21.6%). Economic inequalities exacerbated by post-COVID-19 pandemic confinement with parents of immigrant children 3.2 times more likely to have their household income decreased. Future plans Further follow-up will take place at 8, 10, 12/13 and 15 years of age. Funds awarded by the National Science Foundation will allow 900 more children from four other Lisbon area municipalities to be included in the cohort (cohort-sequential design).publishersversionpublishe

Identifying barriers and finding solutions to implement best practices for cancer surgery at Maputo Central Hospital, Mozambique

Purpose: The aim of this study was to assess the surgical resources and surgical oncology team skills at the Surgical Department of Maputo Central Hospital (MCH) in Mozambique in order to define an educational program to support surgical oncology practice. Methods: From January 2017 to December 2017, a general evaluation of the resources of MCH was carried out, as well as its offerings in oncological care in different services. Data were obtained by reviewing documents, visiting surgical services and interviewing key informants and others informally. In addition, a group of seven surgeons of the Surgical Department of MCH answered a questionnaire about the quality of the cancer units (The Cancer Units Assessment Checklist for low- or middle-income African countries). Subsequently, surgical, anaesthesiology and intensive care facilities were evaluated according to the Portuguese-speaking African Countries Assessment of Surgical Oncology Capacity Survey (PSAC-Surgery). All the data were triangulated in order to identify gaps, develop an action plan and define an educational program. Results: Breast, oesophagus and colorectal cancers were the most commonly treated neoplasms in MCH. A range of technical and resource needs as well as the gaps in knowledge and skills were identified. All surgeons recognised the need to create a training program in oncology at the undergraduate level, specific training for residents and continuing oncological education for general surgeons to improve the practice of surgical oncology. It was evident that all these interventions needed to be formalised, appropriately certified and count for professional career progression. Based on the local epidemiological data and on these study findings, oncology education programs were developed for surgeons. Conclusions: The findings of this study contributed to the development of an educational program in surgical oncology, considered essential to the training of surgeons at MCH. The cancer educational programs and the mobilisation of adequate resources will ensure the provision of adequate surgical oncology treatments for MCH. The training requirements should be tailored to suit the local needs based on the most prevalent malignancies diagnosed in the region. In our view, this methodology may apply to other countries with similar realities in the formation of surgical oncologists.publishersversionpublishe

Nut production in Bertholletia excelsa across a logged forest mosaic: implications for multiple forest use

Although many examples of multiple-use forest management may be found in tropical smallholder systems, few studies provide empirical support for the integration of selective timber harvesting with non-timber forest product (NTFP) extraction. Brazil nut (Bertholletia excelsa, Lecythidaceae) is one of the world’s most economically-important NTFP species extracted almost entirely from natural forests across the Amazon Basin. An obligate out-crosser, Brazil nut flowers are pollinated by large-bodied bees, a process resulting in a hard round fruit that takes up to 14 months to mature. As many smallholders turn to the financial security provided by timber, Brazil nut fruits are increasingly being harvested in logged forests. We tested the influence of tree and stand-level covariates (distance to nearest cut stump and local logging intensity) on total nut production at the individual tree level in five recently logged Brazil nut concessions covering about 4000 ha of forest in Madre de Dios, Peru. Our field team accompanied Brazil nut harvesters during the traditional harvest period (January-April 2012 and January-April 2013) in order to collect data on fruit production. Three hundred and ninety-nine (approximately 80%) of the 499 trees included in this study were at least 100 m from the nearest cut stump, suggesting that concessionaires avoid logging near adult Brazil nut trees. Yet even for those trees on the edge of logging gaps, distance to nearest cut stump and local logging intensity did not have a statistically significant influence on Brazil nut production at the applied logging intensities (typically 1–2 timber trees removed per ha). In one concession where at least 4 trees ha-1 were removed, however, the logging intensity covariate resulted in a marginally significant (0.09) P value, highlighting a potential risk for a drop in nut production at higher intensities. While we do not suggest that logging activities should be completely avoided in Brazil nut rich forests, when a buffer zone cannot be observed, low logging intensities should be implemented. The sustainability of this integrated management system will ultimately depend on a complex series of socioeconomic and ecological interactions. Yet we submit that our study provides an important initial step in understanding the compatibility of timber harvesting with a high value NTFP, potentially allowing for diversification of forest use strategies in Amazonian Perù

Bovine pericardium retail preserved in glutaraldehyde and used as a vascular patch

<p>Abstract</p> <p>Background</p> <p>In this study we evaluated the performance of bovine pericardium preserved in glutaraldehyde used as a vascular patch.</p> <p>Methods</p> <p>Fourteen young pigs, six females and eight males, weighting 10.3 - 18.4 kg were used in our study. We implanted three remnants in each pig, two in the abdominal aorta and one was juxtaposed to the peritoneum. The smooth face (SF) and rough face (RF) of each remnant were implanted turned to the vessel inner portion and one remnant was juxtaposed to the peritoneum. The animals were sacrificed in 4.5 - 8 months after surgery (75 - 109 kg). The remnants were assessed for aorta wall, fibroses formation in inner apposition and calcification related to the face turned to the vessel inner portion.</p> <p>Results</p> <p>The rough face showed a lower dilatation level compared to the face implanted in adjacent aorta. There was no difference between intensity and/or incidence of graft calcification when the superficies were compared. The bovine pericardium preserved in glutaraldehyde did not show alterations in its structure when implanted with different faces turned to the inner portion of vessel.</p> <p>Conclusion</p> <p>When turned to the inner portion of the vessel, the rough face of the remnant presented a lower dilatation in relation to the adjacent aorta and a better quality of endothelium layer and did not show a difference between intensity and/or incidence of graft calcification.</p