scholarly journals Familial Pancreatic Cancer: The Case for Prophylactic Pancreatectomy in Lieu of Serial Screening and Shared Decision Making

2014 ◽  
Vol 2014 ◽  
pp. 1-3
Author(s):  
Mazen E. Iskandar ◽  
Michael G. Wayne ◽  
Justin G. Steele ◽  
Avram M. Cooperman
Keyword(s):  
Pancreatic Cancer ◽  
At Risk ◽  
Clinical Course ◽  
Total Pancreatectomy ◽  
Intraepithelial Neoplasia ◽  
Individual Risk ◽  
Familial Pancreatic Cancer ◽  
History Of ◽  
The Individual ◽  
Duct Stricture

At-risk family members with familial pancreatic cancer (FCaP) face uncertainty regarding the individual risk of developing pancreatic cancer (CaP) and whether to choose serial screening or prophylactic pancreatectomy to avoid CaP. We treated 2 at-risk siblings with a history of FCaP, congenital hepatic fibrosis (CHF), and jaundice secondary to a bile duct stricture. In one, a pancreaticoduodenal resection was done and in the second a total pancreatectomy. Malignancy was not present, but extensive pancreatic intraepithelial neoplasia (PanIn) 2 was present throughout both pancreata. The clinical course and literature review are presented along with the previously unreported association of CHF and CaP.

scholarly journals Familial pancreatic cancer with PALB2 and NBN pathogenic variants: a case report

2021 ◽  
Vol 19 (1) ◽  
Author(s):  
Kodai Abe ◽  
Arisa Ueki ◽  
Yusaku Urakawa ◽  
Minoru Kitago ◽  
Tomoko Yoshihama ◽  
...  
Keyword(s):  
Pancreatic Cancer ◽  
Family History ◽  
Genetic Analysis ◽  
Pathogenic Variant ◽  
Familial Pancreatic Cancer ◽  
Case Presentation ◽  
Pathogenic Variants ◽  
Pancreatic Cancers ◽  
Epidemiological Surveys ◽  
History Of

Abstract Background Family history is one of the risk factors for pancreatic cancer. It is suggested that patients with pancreatic cancer who have a familial history harbor germline pathogenic variants of BRCA1 and/or BRCA2 (BRCA1/2), PALB2, or ATM. Recently, some germline variants of familial pancreatic cancers (FPCs), including PALB2, have been detected. Several countries, including Japan, perform screening workups and genetic analysis for pancreatic cancers. We have been carrying out active surveillance for FPC through epidemiological surveys, imaging analyses, and genetic analysis. Case presentation Here, we present the case of a female patient harboring pathogenic variants of PALB2 and NBN, with a family history of multiple pancreatic cancer in her younger brother, her aunt, and her father. Moreover, her father harbored a PALB2 pathogenic variant and her daughter harbored the same NBN pathogenic variant. Given the PALB2 and NBN variants, we designed surveillance strategies for the pancreas, breast, and ovary. Conclusions Further studies are required to develop strategies for managing FPCs to facilitate prompt diagnosis before their progression.

scholarly journals Surveillance of Individuals with a Family History of Pancreatic Cancer and Inherited Cancer Syndromes: A Strategy for Detecting Early Pancreatic Cancers

Diagnostics ◽  
2019 ◽  
Vol 9 (4) ◽  
pp. 169
Author(s):  
Matsubayashi ◽  
Kiyozumi ◽  
Ishiwatari ◽  
Uesaka ◽  
Kikuyama ◽  
...  
Keyword(s):  
Pancreatic Cancer ◽  
Family History ◽  
Early Stage ◽  
Developed Countries ◽  
Familial Pancreatic Cancer ◽  
Cancer Syndrome ◽  
Inherited Cancer ◽  
Clinicopathological Findings ◽  
History Of ◽  
Cancer Syndromes

A family history of pancreatic cancer (PC) is a risk factor of PC, and risk levels increase as affected families grow in number and/or develop PC at younger ages. Familial pancreatic cancer (FPC) is defined as a client having at least two PC cases in a first degree relatives. In the narrow sense, FPC does not include some inherited cancer syndromes that are known to increase the risks of PC, such as Peutz–Jeghers syndrome (PJS), hereditary pancreatitis (HP), hereditary breast ovarian cancer syndrome (HBOC), and so on. FPC accounts for 5%–10% of total PC diagnoses and is marked by several features in genetic, epidemiological, and clinicopathological findings that are similar to or distinct from conventional PC. Recent advances in genetic medicine have led to an increased ability to identify germline variants of cancer-associated genes. To date, high-risk individuals (HRIs) in many developed countries, including FPC kindreds and inherited cancer syndromes, are screened clinically to detect and treat early-stage PC. This article highlights the concept of FPC and the most recent data on its detection.

scholarly journals Radiation-induced hypopituitarism

2009 ◽  
Vol 16 (3) ◽  
pp. 733-772 ◽  
Author(s):  
Alberto Fernandez ◽  
Michael Brada ◽  
Lina Zabuliene ◽  
Niki Karavitaki ◽  
John A H Wass
Keyword(s):  
At Risk ◽  
Survival Rates ◽  
Whole Body ◽  
Individual Risk ◽  
Endocrine Disorders ◽  
Radiation Induced ◽  
Radiation Treatments ◽  
The Individual ◽  
Expanding Population ◽  
The Impact

The hypothalamic–pituitary unit is a particularly radiosensitive region in the central nervous system. As a consequence, hypopituitarism commonly develops after radiation treatments for sellar and parasellar neoplasms, extrasellar brain tumours, head and neck tumours, and following whole body irradiation for systemic malignancies. Increasing tumour-related survival rates provide an expanding population at risk of developing hypopituitarism. In this population, long-term monitoring tailored to the individual risk profile is required to avoid the sequelae of untreated pituitary hormonal deficiencies and resultant decrease in the quality of life. This review analyses the pathogenesis, prevalence and consequences of radiation-induced hypopituitarism (RIH) in diverse subgroups at risk. Also discussed is the impact of modern radiotherapy techniques in the prevalence of RIH, the spectrum of endocrine disorders and radiation-induced brain conditions that also occur in patients with RIH.

scholarly journals The Hereditary Spectrum of Pancreatic Cancer: The Edmonton Experience

2004 ◽  
Vol 18 (1) ◽  
pp. 17-21 ◽  
Author(s):  
Margaret Lilley ◽  
Dawna Gilchrist
Keyword(s):  
Pancreatic Cancer ◽  
At Risk ◽  
Family History ◽  
Hereditary Cancer ◽  
Cancer Genetics ◽  
Hereditary Cancer Syndrome ◽  
Molecular Testing ◽  
Cancer Syndrome ◽  
History Of ◽  
Cancer Syndromes

OBJECTIVE:Pancreatic cancer is known to aggregate in some families and has been associated with a wide variety of cancer syndromes. The authors describe their experience with pancreatic cancer and the range of associated cancer syndromes.METHODS:The charts of all patients seen for concern of a hereditary cancer syndrome in the Cancer Genetics Clinic at the University of Alberta between 1995 and 2002 were reviewed.RESULTS:Forty families reported a personal or family history of pancreatic cancer in the context of a possible hereditary cancer syndrome. Three additional families reported a history of pancreatitis. Twenty-four (56%) of those families were suspected of having a hereditary breast and ovarian cancer syndrome. A further seven (16%) were suspected of having hereditary nonpolyposis colon cancer. Only three (7%) were believed to be at risk for a site-specific pancreatic cancer syndrome. Another three (7%) were suspicious for hereditary pancreatitis. The remaining family histories were suggestive of Li-Fraumeni syndrome, von Hippel-Lindau syndrome or a nonspecific cancer predisposition.CONCLUSIONS:With such a wide variety of hereditary cancer syndromes associated with pancreatic cancer, an accurate assessment of the family history is essential to determine the most appropriate cancer screening for at-risk family members and to guide any molecular testing that may be offered.

Predictors of deep venous thrombosis in patients admitted to rehabilitation clinics after major orthopaedic surgery

VASA ◽  
2013 ◽  
Vol 42 (1) ◽  
pp. 40-49 ◽  
Author(s):  
Jan Beyer-Westendorf ◽  
Vitalie Bogorad ◽  
Ingeborg Tautenhahn ◽  
Sandra Marten ◽  
Sebastian M. Schellong
Keyword(s):  
Orthopaedic Surgery ◽  
Standard Of Care ◽  
Female Gender ◽  
Individual Risk ◽  
Hip Fracture Surgery ◽  
Vein Thrombosis ◽  
Compression Ultrasound ◽  
History Of ◽  
Major Orthopaedic Surgery ◽  
The Individual

Background: Venous thromboembolism (VTE) is a frequent complication of major orthopaedic surgery; prolonged prophylaxis with anticoagulants is standard of care. However, late manifestation of VTE is common and little is known about the predictors of late deep vein thrombosis (DVT) and the distribution of proximal and distal DVT and isolated calf muscle vein thrombosis (MVT). Patients and methods: 482 patients admitted to a rehabilitation clinic (RC) after total hip or knee replacement (THR; TKR) or hip fracture surgery (HFS) underwent complete compression ultrasound (CCUS) screening for VTE within 72 hours after admission into RC. Predictors of VTE were evaluated. Results: DVT was prevalent in 74 events (14.7 %), consisting of 13 (2.7 %) proximal DVT, 17 (3.5 %) distal DVT and 41 (8.5 %) MVT, respectively. Multivariate analyses established history of VTE (OR for proximal DVT 7.0; 95 %-CI 1.9 - 25.9; OR for any DVT 3.9; 95 %-CI 1.7 - 8.9), female gender (OR 3.3; 95 %-CI 1.0 - 10.6), coronary artery disease (OR 3.8; 95 %-CI 1.1 - 12.9) and cancer (OR 8.0; 95 %-CI 1.8 - 35.5) as independent VTE predictors for proximal DVT. For MVT, age (OR 2.4; 95 %-CI 1.2 - 5.0) and a history of musculo-skeletal disease (OR 2.6; 95 %-CI 1.1 - 5.8) or autoimmune disease (OR 3.9; 95 %-CI 1.0 - 15.4) were found to be independent predictors. Conclusions: This study confirms well-known predictors of VTE and high rates of postoperative VTE despite optimal thromboprophylaxis. In addition, independent risk factors for proximal DVT and MVT were identified. The data support the concept or continuing thromboprophylaxis during rehabilitation after major orthopaedic surgery because a considerable percentage of patients had asymptomatic DVT at RC on admission. However, significant differences in the individual risk profile and the distribution pattern of DVT and MVT exist, which could be used for a more individualized thromboprophylaxis strategy.

MO567PILOT STUDY OF BONE RESISTANCE MEASURED IN VIVO BY IMPACT MICROINDENTATION IN KIDNEY TRANSPLANTATION

2021 ◽  
Vol 36 (Supplement_1) ◽  
Author(s):  
Maria Jesus Lloret ◽  
Cristina Canal ◽  
Silvana Di Gregorio ◽  
Carmen Facundo Molas ◽  
Ana Vila Santandreu ◽  
...  
Keyword(s):  
Vitamin D ◽  
Trabecular Bone Score ◽  
Individual Risk ◽  
Control Group ◽  
Material Strength ◽  
Bone Material Strength ◽  
History Of ◽  
The Individual ◽  
Impact Microindentation

Abstract Background and Aims Impact microindentation (IMI) is a new technique that measures bone material strength (BMS). Results are expressed as a BMS index (BMSi) which represents the ratio between the IMI distance [penetration of the needle-probe in patient’s bone (mid-shaft tibia)] versus a reference material (polimethylmethacrylate). Method Observational, prospective, single-center study. Baseline IMI (Osteoprobe®, Active Life Scientific, USA) and bone densitometry (iDXA, Lunar Health Care GE) were performed and data collected in the peritransplantation period of kidney transplant (KT) patients from May 2019 to May 2020, following our current clinical bone and transplant protocols. Based on the individual risk of fracture and current Spanish Society of Rheumathology/Nephrology guidelines, antirresorptive treatment (bisphosphonates or denosumab) was added on top of calcium and vitamin D supplements. We hereby present preliminary results of the control IMI performed 6 months after KT. Results Baseline IMI was performed in 45 patients, 62% men, 56±14 y/o, and a BMI of 24.9±3.5 kg/m2, reasonably controlled for classical serum bone mineral parameters. 70% were on dialysis prior to KT, 20% were diabetic, and 33.3% of women suffered from early menopause. 15.9% had a history of previous fragility fracture, 13% had a parent history of hip fracture, and 14% fell more than twice during the last year. Mean baseline FRAX® (https://www.sheffield.ac.uk/FRAX/tool.aspx?lang=sp) for a major osteoporotic fracture and hip were 4.3% and 2.3%, respectively. Baseline lumbar, femoral neck, hip and ultradistal radius DXA T-score were respectively -0.9, -1.7, -1.5, -2.0 SD. Mean BMSi was 78.5±7.6. Osteopenic/osteoporotic patients had a significantly lower BMSi than those who were not (76.3 vs 83; r = 0.37; p = 0.012). A statistically significant positive correlation was observed between BMSi and the trabecular bone score [(TBS), r = 0.346 ; p = 0.036). On a visual-analogic scale of pain, puncture was rated on average 1.1±1.6 over 10 (82% 0-2). 37.2% of patients began bisphosphonates (alendronic acid) and 9.3% denosumab. Control IMI was performed at 6 months in 24 patients, with a mean BMSi of 76.9±10.5. Mean difference between baseline and 6 months BMSi in this subgroup was 1.18±11.5. The group of patients treated with antiresorptives showed on average an increase in BMSi at 6 months, compared with a decrease in the control group (+5.2 vs -5.3; p = 0.054). Conclusion IMI is a technique with excellent tolerance that may offer complementary information on bone quality in the global assessment of bone resistance. IMI may allow the detection of EARLY changes in bone resistance in corticosteroid-treated KT patients with/without antiresorptives added to prophylactic treatment with calcium and vitamin D.

Temporal complexity in clinical manifestations of lung disease

2011 ◽  
Vol 110 (6) ◽  
pp. 1723-1731 ◽  
Author(s):  
Urs Frey ◽  
Geoffrey Maksym ◽  
Béla Suki
Keyword(s):  
Lung Function ◽  
Statistical Physics ◽  
Clinical Manifestations ◽  
Individual Risk ◽  
Fluctuation Analysis ◽  
Temporal Complexity ◽  
History Of ◽  
The Individual ◽  
The Impact ◽  
Insight Into

In this review, we summarize results of recent research on the temporal variability of lung function, symptoms, and inflammatory biomarkers. Specifically, we demonstrate how fluctuation analysis borrowed from statistical physics can be used to gain insight into neurorespiratory control and complex chronic dynamic diseases such as asthma viewed as a system of interacting components (e.g., inflammatory, immunological, and mechanical). Fluctuation analysis tools are based on quantifying the distribution and the short- and long-term temporal history of tidal breathing and lung function parameters to assess neurorespiratory control and monitor chronic disease. The latter includes the assessment of severity and disease control, the impact of treatment and environmental triggers, the temporal characterization of disease phenotypes, and the individual risk of exacerbation. While in many cases specific mechanistic insight into the fluctuations still awaits further research, appropriate analyses of the fluctuations already impact on clinical science and practice.

scholarly journals Development and Validation of a Nomogram to Predict the Individual Future Stroke Risk for Adult Patients With Moyamoya Disease: A Multicenter Retrospective Cohort Study in China

2021 ◽  
Vol 12 ◽  
Author(s):  
Fei Ye ◽  
Tianzhu Wang ◽  
Haoyuan Yin ◽  
Jiaoxing Li ◽  
Haiyan Li ◽  
...  
Keyword(s):  
Risk Factors ◽  
Clinical Practice ◽  
Moyamoya Disease ◽  
Stroke Risk ◽  
External Validation ◽  
Roc Curves ◽  
Individual Risk ◽  
Kaplan Meier ◽  
History Of ◽  
The Individual

Background: Studies exploring the predictive performance of major risk factors associated with future stroke events are insufficient, and a useful tool to predict individual risk is not available. Therefore, personalized advice for preventing future stroke in patients with moyamoya disease (MMD) cannot provide evidence-based recommendations. The aim of this study was to develop a novel nomogram with reliable validity to predict the individual risk of future stroke for adult MMD patients.Methods: This study included 450 patients from seven medical centers between January 2013 and December 2018. Follow-ups were performed via clinical visits and/or telephone interviews from initial discharge to December 2019. The cohort was randomly assigned to a training set (2/3, n = 300) for nomogram development and a test set (1/3, n = 150) for external validation. The Kaplan-Meier analyses and receiver operating characteristic (ROC) curves were applied to assess the clinical benefits of this nomogram.Results: Diabetes mellitus, a family history of MMD, a past history of stroke or transient ischemic attack, clinical manifestation, and treatment were identified as major risk factors via the least absolute shrinkage and selection operator (LASSO) method. A nomogram including these predictors was established via a multivariate Cox regression model, which displayed excellent discrimination [Harrell's concordance index (C-index), 0.85; 95% confidence interval (CI): 0.75–0.96] and calibration. In the external validation, the nomogram was found to have good discrimination (C-index, 0.81; 95% CI: 0.68–0.94) and calibration. In the subgroup analysis, this predictive nomogram also showed great performance in both ischemic-type (C-index, 0.90; 95% CI: 0.77–1.00) and hemorrhagic-type MMD (C-index, 0.72; 95% CI: 0.61–0.83). Furthermore, the nomogram was shown to have potential in clinical practice through Kaplan-Meier analyses and ROC curves.Conclusions: We developed a novel nomogram incorporating several clinical characteristics with relatively good accuracy, which may have considerable potential for evaluating individual future stroke risk and providing useful management recommendations for adult patients with MMD in clinical practice.

Imaging techniques in pancreatic cancer screening: Preliminary results from the PanGen-FAM registry.

2013 ◽  
Vol 31 (15_suppl) ◽  
pp. 1529-1529
Author(s):  
Carmen Guillen-Ponce ◽  
Evelina Mocci ◽  
Julie Earl ◽  
Mirari Marquez ◽  
Roger Milne ◽  
...  
Keyword(s):  
Pancreatic Cancer ◽  
Clinical Observation ◽  
Imaging Techniques ◽  
Intraepithelial Neoplasia ◽  
Premalignant Lesions ◽  
Cystic Lesions ◽  
Pancreatic Cancer Screening ◽  
History Of ◽  
Magnetic Resonance Imaging Mri ◽  
Mass Lesions

1529 Background: The incidence of pancreatic cancer (PC) is low, thus screening is recommended for individuals considered to be at high risk. These include members of families with ≥ 2 relatives with PC (FPC), Peutz Jegher syndrome, hereditary breast/ovarian cancer (HBOC), familial atypical multiple mole melanoma and Lynch syndrome. Previous studies have shown that non-invasive precursor lesions, such as intraductal papillary mucinous neoplasm (IPMN) and pancreatic intraepithelial neoplasia (PanIN) are more common and of a higher invasive grade in patients with a family history of PC. Methods: Baseline screening consisted of endoscopic ultrasound (EUS) and computed tomography (CT) and magnetic resonance imaging (MRI). FNA-EUS was performed when mass lesions or cysts ≥1 cm in size were encountered. The possibility of surgical intervention or ongoing clinical observation was discussed by a multidisciplinary team in the case of abnormal findings. Furthermore Circulating Tumor Cells (CTC) in peripheral blood as a diagnostic marker was assessed. Thirty-five individuals from FPC and HBOC families were screened between October 2011and December 2012. Results: The most frequent abnormal findings by EUS were parenchymal changes found in chronic pancreatitis (hyperechoic foci, echogenic strands, lobularity, cysts). Overall 13 (41%) patients showed at least 1 of these changes; of note, 7 patients were from the same FPC family. Four patients were diagnosed with cystic lesions by EUS; two lesions were confirmed by MRI but not by CT, one lesion was confirmed by both MRI and CT and was compatible with a mucinous tumor < 1cm in diameter and one lesion was detected only by EUS. One patient with cystic lesion >1 cm in size underwent EUS-FNA and the cytology showed benign celularity. One patient has a solid lesion, and it was a neuroendocrine tumor. The remaining patients with cystic lesions were proposed for ongoing close clinical observation. CTC have not been detected in 54 patients tested. Conclusions: A high prevalence of pancreatic abnormalities was found in patients from FPC families. Preliminary data suggest that EUS is the most sensitive method to detect small tumors and premalignant lesions.

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