The Final Days of the Franklin Expedition: New Skeletal Evidence

In 1992, a previously unrecorded site of Sir John Franklin's last expedition (1845-1848) was discovered on King William Island in the central Canadian Arctic. Artifacts recovered from the site included iron and copper nails, glass, a clay pipe fragment, pieces of fabric and shoe leather, buttons, and a scatter of wood fragments, possibly representing the remains of a lifeboat or sledge. Nearly 400 human bones and bone fragments, representing a minimum of 11 men, were also found at the site. A combination of artifactual and oxygen isotope evidence indicated a European origin for at least two of these individuals. Skeletal pathology included periostitis, osteoarthritis, dental caries, abscesses, antemortem tooth loss, and periodontal disease. Mass spectroscopy and x-ray fluorescence revealed elevated lead levels consistent with previous measurements, further supporting the conclusion that lead poisoning contributed to the demise of the expedition. Cut marks on approximately one-quarter of the remains support 19th-century Inuit accounts of cannibalism among Franklin's crew.En 1992, on a découvert un site non mentionné auparavant, relié à la dernière expédition de sir John Franklin (1845-1848) dans l'île du Roi-Guillaume, située au centre de l'océan Arctique canadien. Les artefacts récupérés sur ce site comprenaient des clous en fer et en cuivre, du verre, un fragment de pipe en terre, des morceaux de tissu et de cuir de chaussure, des boutons et de multiples fragments de bois éparpillés, qui pourraient venir d'un canot de sauvetage ou d'un traîneau. On a aussi trouvé sur le site un total d'environ 400 fragments osseux ou os complets, représentant au moins 11 hommes. En se basant à la fois sur de la documentation archéologique et sur des analyses des isotopes de l'oxygène, on a pu attribuer une origine européenne à au moins deux de ces individus. Les lésions osseuses comprenaient périostites, ostéo-arthrite, caries dentaires, abcès, perte de dents précédant le décès et parodontolyses. La spectroscopie de masse et la fluorescence X ont révélé de forts taux de plomb correspondant aux mesures précédentes, venant ainsi appuyer la conclusion qui veut que l'empoisonnement par le plomb ait contribué à la fin de l'expédition. Des entailles sur environ un quart des ossements confirment les récits inuit du XIXe siècle sur le cannibalisme pratiqué par l'équipage de Franklin

Fort Conger: A Site of Arctic History in the 21st Century

Fort Conger, located at Discovery Harbour in Lady Franklin Bay on northern Ellesmere Island, Nunavut, played an intrinsic role in several High Arctic expeditions between 1875 and 1935, particularly around 1900–10 during the height of the Race to the North Pole. Here are found the remains of historic voyages of exploration and discovery related to the 19th century expeditions of G.S. Nares and A.W. Greely, early 20th century expeditions of R.E. Peary, and forays by explorers, travelers, and government and military personnel. In the Peary era, Fort Conger’s connection with indigenous people was amplified, as most of the expedition personnel who were based there were Inughuit from Greenland, and the survival strategies of the explorers were largely derived from Inughuit material cultural and environmental expertise. The complex of shelters at Fort Conger symbolizes an evolution from the rigid application of Western knowledge, as represented in the unsuitable prefabricated Greely expedition house designed in the United States, towards the pragmatic adaptation of Aboriginal knowledge represented in the Inughuit-influenced shelters that still stand today. Fort Conger currently faces various threats to its longevity: degradation of wooden structures through climate and weathering, bank erosion, visitation, and inorganic contami­nation. Its early history and links with Greenlandic Inughuit have suggested that the science of heritage preservation, along with management practices of monitoring, remediation of contamination, and 3D laser scanning, should be applied to maintain the site for future generations.Fort Conger, situé au Havre de la découverte, dans la baie Lady Franklin, au nord de l’île d’Ellesmere, au Nunavut, a joué un rôle intrinsèque dans plusieurs expéditions de l’Extrême-Arctique entre 1875 et 1935, surtout dans les années 1900 à 1910, à l’apogée de la course vers le pôle Nord. Nous trouvons ici les vestiges de voyages d’exploration et de découvertes historiques, vestiges qui se rapportent plus précisément aux expéditions de G.S. Nares et d’A.W. Greely au XIXe siècle, aux expéditions de R.E. Peary au début du XXe siècle et aux incursions de divers explorateurs, voyageurs, militaires et employés du gouvernement. À l’époque de R.E. Peary, les liens entretenus avec les Autochtones de Fort Conger se sont intensifiés, car une grande partie des membres de l’expédition étaient des Inughuits du Groenland, et les stratégies de survie des explorateurs dépendaient grandement de l’expertise matérielle, culturelle et environnementale des Inughuits. Le complexe d’abris qui se trouve au Fort Conger symbolise une évolution, où l’on a délaissé l’application rigide des connaissances occidentales, comme en atteste la maison préfabriquée inadaptée conçue aux États-Unis pour l’expédition Greely, pour aller vers une adaptation pragmatique des connaissances autochtones, comme l’illustrent les abris d’influence inughuite que l’on aperçoit toujours de nos jours. En ce moment, la longévité de Fort Conger est menacée en raison de la dégradation des structures en bois, dégradation attribuable à l’altération climatique et atmosphérique, à l’érosion des berges, aux visites et à la contamination inorganique. Les débuts de Fort Conger et ses liens avec les Inughuits groenlandais suggèrent qu’il y aurait lieu de mettre en application la science de la conservation du patrimoine, jumelée aux pratiques de gestion de la surveillance, de restauration des matériaux contaminés et de balayage laser 3D, afin d’assurer le maintien du site pour les générations à venir

A Rare Cause of Chronic Hypokalemia with Metabolic Alkalosis: Case Report and Differential Diagnosis

Hypokalemia and metabolic alkalosis can be present in different rare diseases, and the differential diagnosis of these forms is challenging. Apparent mineralcorticoid (AME) excess syndrome is one of these conditions. Characterized by increased blood pressure due to excessive sodium retention and plasma volume, it is caused by a mutation in the HSD11B2 gene encoding the oxydoreductase enzyme 11β-hydroxysteroide dehydrogenase type 2. We report the case of a child presenting with failure to thrive associated with early detection of hypokalemia, metabolic alkalosis, nephrocalcinosis and hypertension in which AME syndrome was detected. A novel mutation in the HSD11B2 gene was identified in this patient. In clinical pictures characterized by metabolic alkalosis and hypokalemia, the evaluation of renin, aldosterone and blood pressure is crucial for accurate diagnosis. AME syndrome is a rare disorder that can be an insidious but lethal disease, if untreated. With clinical signs appearing during the first days of life. Early diagnosis is imperative in order to enable prompt and adequate treatment to improve the outcome of these patients

Rapid patterning of 1-D collagenous topography as an ECM protein fibril platform for image cytometry.

Cellular behavior is strongly influenced by the architecture and pattern of its interfacing extracellular matrix (ECM). For an artificial culture system which could eventually benefit the translation of scientific findings into therapeutic development, the system should capture the key characteristics of a physiological microenvironment. At the same time, it should also enable standardized, high throughput data acquisition. Since an ECM is composed of different fibrous proteins, studying cellular interaction with individual fibrils will be of physiological relevance. In this study, we employ near-field electrospinning to create ordered patterns of collagenous fibrils of gelatin, based on an acetic acid and ethyl acetate aqueous co-solvent system. Tunable conformations of micro-fibrils were directly deposited onto soft polymeric substrates in a single step. We observe that global topographical features of straight lines, beads-on-strings, and curls are dictated by solution conductivity; whereas the finer details such as the fiber cross-sectional profile are tuned by solution viscosity. Using these fibril constructs as cellular assays, we study EA.hy926 endothelial cells' response to ROCK inhibition, because of ROCK's key role in the regulation of cell shape. The fibril array was shown to modulate the cellular morphology towards a pre-capillary cord-like phenotype, which was otherwise not observed on a flat 2-D substrate. Further facilitated by quantitative analysis of morphological parameters, the fibril platform also provides better dissection in the cells' response to a H1152 ROCK inhibitor. In conclusion, the near-field electrospun fibril constructs provide a more physiologically-relevant platform compared to a featureless 2-D surface, and simultaneously permit statistical single-cell image cytometry using conventional microscopy systems. The patterning approach described here is also expected to form the basics for depositing other protein fibrils, seen among potential applications as culture platforms for drug screening

Application of 3D Laser Scanning to the Preservation of Fort Conger, a Historic Polar Research Base on Northern Ellesmere Island, Arctic Canada

Fort Conger, located in Quttinirpaaq National Park, Ellesmere Island, is a historic landmark of national and international significance. The site is associated with many important Arctic expeditions, including the ill-fated Lady Franklin Bay Expedition of the First International Polar Year and Robert Peary’s attempts to claim the North Pole. Although situated in one of the most remote locations on earth, Fort Conger is currently at risk because of the effects of climate change, weather, wildlife, and human activity. In this paper, we show how 3D laser scanning was used to record cultural features rapidly and accurately despite the harsh conditions present at the site. We discuss how the future impacts of natural processes and human activities can be managed using 3D scanning data as a baseline, how conservation and restoration work can be planned from the resulting models, and how 3D models created from laser scanning data can be used to excite public interest in cultural stewardship and Arctic history.Fort Conger, situé dans le parc national Quttinirpaaq, sur l’île d’Ellesmere, est un lieu historique d’importance nationale et internationale. Ce site est lié à de nombreuses expéditions arctiques importantes, dont l’infortunée expédition de la baie Lady Franklin relevant de la première année polaire internationale et les tentatives de revendication du pôle Nord par Robert Peary. Bien qu’il se trouve dans l’un des endroits les plus éloignés du globe, Fort Conger subit actuellement les risques découlant des effets du changement climatique, des conditions météorologiques, de la faune et de l’activité humaine. Dans cette communication, nous montrons comment un scanneur laser 3D a permis de répertorier les caractéristiques culturelles avec rapidité et précision malgré les conditions difficiles qui ont cours à ce site. Nous discutons de la manière dont les incidences futures des processus naturels et de l’activité humaine peuvent être gérées à l’aide des données 3D comme données de base, comment les travaux de conservation et de restauration peuvent être planifiés à partir des modèles qui en résultent et comment les modèles 3D créés à partir des données de scannage laser peuvent rehausser l’intérêt du grand public à l’égard de la gérance culturelle et de l’histoire de l’Arctique

Multidisciplinarity in Transition Pathways for Patients With Kidney Disease: The Current State of Play

In the field of medical care, successful transition from pediatric-centered to adult-oriented healthcare can provide a sense of continuity in the development of youth, and prepare them to accept responsibility for and manage their own chronic kidney condition in complete autonomy. The so-called transition process requires the presence of some basic aspects: a multidisciplinary team, which acts as a bridge between child and adult services; a comprehensive clinical, cognitive, psychological, and social change for the young people; the involvement of family and caregivers. Within the framework of transition and chronicity during the developmental age, we selected international papers explaining models which agreed on some important steps in the transition process, although many differences can be observed between different countries. In fact, in Europe, the situation appears to be heterogeneous as regards certain aspects: the written transition plan, the educational programmes, the timing of transfer to adult services, the presence of a transition coordinator, a dedicated off-site transition clinic. We then analyzed some studies focusing on patients with renal diseases, including the first to contain a standardized protocol for transition which was launched recently in the USA, and which seems to have already achieved important positive, although limited, results. In Italy, the issue of transition is still in its infancy, however important efforts in the management of chronic kidney disease have already been initiated in some regions, including Emila Romagna, which gives us hope for the future of many young people

Born with a solitary kidney : at risk of hypertension

Background: Subjects with a congenital solitary kidney (CSK) are believed to be at risk of hypertension due to their low number of nephrons. However, as CSK is a congenital abnormality of the kidney or urinary tract (CAKUT), subtle dysplastic changes contributing to hypertension cannot be excluded. Methods: We retrospectively compared office blood pressure (OBP) and ambulatory blood pressure monitoring (ABPM) between two groups of children with CAKUT, aged 6\u201318 years: Group A with a CSK and Group B with two kidneys. All had normal renal parenchyma on scintigraphy and normal renal function. OBP and mean systolic and diastolic 24-h, daytime and nighttime ambulatory BP records were analyzed. The distribution of OBP and APBM as continuous values and the prevalence of hypertension (ambulatory/severe ambulatory or masked hypertension) in the two groups were compared. Results: There were 81 patients in Group A and 45 in Group B. Median OBP standard deviation scores were normal in both groups, without significant differences. Median ABPM standard deviation scores, although normal, were significantly higher in Group A and the prevalence of hypertension was higher (ambulatory/severe ambulatory or masked) (33.3 vs. 13.3%, p = 0.019), mainly because of the greater occurrence of masked hypertension. Conclusions: Our data show that a CSK per se can be associated with an increased risk of hypertension from the pediatric age. Therefore, ABPM, which has proved valuable in the screening of hypertension, is warranted in children with a CSK, even if laboratory and imaging assessment is otherwise normal

Expanding phenotype of schimke immuno-osseous dysplasia: Congenital anomalies of the kidneys and of the urinary tract and alteration of nk cells

Schimke immuno-osseous dysplasia (SIOD) is a rare multisystemic disorder with a variable clinical expressivity caused by biallelic variants in SMARCAL1. A phenotype\u2013genotype correlation has been attempted and variable expressivity of biallelic SMARCAL1 variants may be associated with environmental and genetic disturbances of gene expression. We describe two siblings born from consanguineous parents with a diagnosis of SIOD revealed by whole exome sequencing (WES). Results: A homozygous missense variant in the SMARCAL1 gene (c.1682G>A; p.Arg561His) was identified in both patients. Despite carrying the same variant, the two patients showed substantial renal and immunological phenotypic differences. We describe features not previously associated with SIOD\u2014both patients had congenital anomalies of the kidneys and of the urinary tract and one of them succumbed to a classical type congenital mesoblastic nephroma. We performed an extensive characterization of the immunophenotype showing combined immunodeficiency characterized by a profound lymphopenia, lack of thymic output, defective IL-7R\u3b1 expression, and disturbed B plasma cells differentiation and immunoglobulin production in addition to an altered NK-cell phenotype and function. Conclusions: Overall, our results contribute to extending the phenotypic spectrum of features associated with SMARCAL1 mutations and to better characterizing the underlying immunologic disorder with critical implications for therapeutic and management strategies

Primary extremity soft tissue sarcomas: Outcome improvement over time at a single institution

Background: To assess changes in survival over time of extremity soft tissue sarcoma (ESTS) patients treated at a single reference institution. Patients and methods: Patients with primary localized adult-type ESTS surgically treated at our institution between 1987 and 2007 were retrospectively reviewed. Patients were categorized into four 5-year groups according to the timing of their first operation. Crude cumulative incidence (CCI) of sarcoma-specific mortality (SSM), local recurrence (LR), and distant metastases (DMs) were calculated for each time period. Results: A total of 1094 patients were identified. Median follow-up was 81 months. CCI of SSM and LR were significantly better in period 4 in comparison to periods 1-3 (P < 0.001 for both end points), dropping, respectively, from 15% to 6% and from 23% to 9%. An overall improvement of DMs-free survival at 5 years could be detected in the latter period, as well as a better postmetastasis survival. Conclusions: Reference institutions for sarcomas may have improved their outcome in the last years. Although biases of retrospective analyses as well as the effect of institutional learning curves need to be discounted, it is possible that optimal exploitation of a series of subtle improvements in sarcoma treatment may make a difference in results currently achievable

High-Dose Ifosfamide Chemotherapy in a Series of Patients Affected by Myxoid Liposarcoma

Background. To report on the activity of high-dose prolonged-infusion ifosfamide (HDIFX) chemotherapy in a retrospective series of patients affected by myxoid liposarcoma treated at Fondazione IRCCS Istituto Nazionale dei Tumori in Milan, Italy. Patients and Methods. Patients with an advanced myxoid liposarcoma treated with HDIFX (14 g/sqm, i.v., prolonged infusion of 14 days every 28 days) as a single agent between May 2002 and April 2017 were retrospectively reviewed. All pathologic diagnoses were centrally reviewed and molecularly confirmed. Response was evaluated by RECIST, and survival functions were computed by the Kaplan-Meier method. Results. Eleven patients with advanced myxoid liposarcoma were treated with HDIFX (male/female = 9/2, median age 33 years, range 31-75). Among these, 1/11 received HDIFX in first line, 5/11 in second line, 3/11 in third line, and 2/11 in fourth line for a median course number of 3 (range 2-7). No RECIST objective responses were observed. Overall median progression-free survival was 1,9 months. Median overall survival was 37 months. At a median follow-up of 115 months, 1 patient is alive. Conclusions. In this series of patients affected by advanced myxoid liposarcoma, chemotherapy with HDIFX was essentially inactive