scholarly journals MR Brain Screening in ADPKD Patients

2021 ◽  
Author(s):  
I. Capelli ◽  
M. Zoli ◽  
M. Righini ◽  
L. Faccioli ◽  
V. Aiello ◽  
...  
Keyword(s):  
Family History ◽  
Screening Program ◽  
Brain Mri ◽  
Control Analysis ◽  
Brain Abnormalities ◽  
Retrospective Case ◽  
Adult Polycystic Kidney Disease ◽  
Laboratory Findings ◽  
Genetic Test Results ◽  
History Of

Abstract Background Adult polycystic kidney disease (ADPKD) still represents a major cause of renal failure and intracranial aneurisms (IA) have a higher prevalence in ADPKD than in the general population. Current guidelines suggest performing brain MRI only in the subjects with a positive familiar history of IAs or subarachnoid hemorrhage (SAH). This is a retrospective case-control analysis to evaluate the usefulness of a MR screening program in ADPKD patients. Methods We retrospectively analyzed all ADPKD patients followed in our outpatient clinic between 2016 and 2019 who underwent a brain MRI screening. We evaluated the presence of IAs and others brain abnormalities and compared our results with a non-ADPKD population (n = 300). We performed univariate and multivariate regression analysis to evaluate if general and demographic features, laboratory findings, clinical parameters and genetic test results correlated with IAs or other brain abnormalities presence. Results Among the patients evaluated 17 out of 156 (13.6%) ADPKD patients had IAs, compared to 16 out of 300 (5.3%) non-ADPKD controls (p < 0.005). Considering ADPKD patients presenting IAs, 12 (70.6%) had no family history for IAs or SAH. Genetic analysis was available for 97 patients: in the sub-population with IAs, 13 (76.5%) presented a PKD1 mutation and none a PKD2 mutation. We found that arachnoid cysts (AC) (p < 0.001) and arterial anatomical variants (p < 0.04) were significantly more frequent in ADPKD patients. Conclusion In our population ADPKD patients showed a higher prevalence of IAs, AC and arterial variants compared to non-ADPKD. Most of the IAs were found in patients presenting a PKD1 mutation. We found a significant number of alterations even in those patients without a family history of IAs or SAH. The practice of submitting only patients with familial IAs or kidney transplantation candidates to MRI scan should be re-evaluated.

A Practical Approach to Pediatric Patients Referred With an Abnormal Coagulation Profile

2005 ◽  
Vol 129 (8) ◽  
pp. 1011-1016 ◽  
Author(s):  
Monica Acosta ◽  
Rachel Edwards ◽  
E. Ian Jaffe ◽  
Donald L. Yee ◽  
Donald H. Mahoney ◽  
...  
Keyword(s):  
Family History ◽  
Positive Family History ◽  
Laboratory Data ◽  
Bleeding Risk ◽  
Personal History ◽  
Retrospective Case ◽  
Laboratory Assessment ◽  
Repeat Testing ◽  
Effective Manner ◽  
History Of

Abstract Context.—Workup for prolonged prothrombin time (PT) and activated partial thromboplastin time (PTT) is a frequent referral to a Hematology and Coagulation Laboratory. Although the workup should be performed in a timely and cost-effective manner, the complete laboratory assessment of the coagulation state has not been standardized. Objective.—To determine which clinical and laboratory data are most predictive of a coagulopathy and to formulate the most efficient strategy to reach a diagnosis in patients referred for abnormal coagulation profiles. Design.—Retrospective case review. Medical records of 251 patients referred for prolonged PT and/or PTT to our Hematology Service between June 1995 and December 2002 were reviewed. Results.—The study included 135 males and 116 females with a mean age of 7.0 years. A personal history of bleeding was reported in 137 patients, and a family history of bleeding was reported in 116 patients. Fifty-one patients (20%) had a coagulopathy (ie, a bleeding risk). Factors predictive of a bleeding risk were a positive family history of bleeding (P &lt; .001) and a positive personal history of bleeding (P = .001). Of 170 patients with findings of normal PT and PTT values on repeat testing, 14 were subsequently diagnosed with a coagulopathy. Two of these patients reported no positive personal or family history of bleeding. Conclusions.—Coagulopathy was identified in 20% of the children referred for abnormal PT and/or PTT. In the absence of a personal or family history of bleeding, a normal PT and/or PTT on repeat testing has a negative predictive value of more than 95%.

scholarly journals Self-Reported Questionnaire Detects Family History of Cancer in a Pancreatic Cancer Screening Program

2016 ◽  
Vol 26 (4) ◽  
pp. 806-813 ◽  
Author(s):  
Aimee L. Lucas ◽  
Adam Tarlecki ◽  
Kellie Van Beck ◽  
Casey Lipton ◽  
Arindam RoyChoudhury ◽  
...  
Keyword(s):  
Pancreatic Cancer ◽  
Cancer Screening ◽  
Family History ◽  
Screening Program ◽  
Family History Of Cancer ◽  
Pancreatic Cancer Screening ◽  
Cancer Screening Program ◽  
History Of ◽  
History Of Cancer

scholarly journals Risk of Dysglycemia in Pregnancy amongst Kenyan Women with HIV Infection: A Nested Case-Control Analysis from the STRiDE Study

2021 ◽  
Vol 2021 ◽  
pp. 1-11
Author(s):  
Sonak D. Pastakia ◽  
Wycliffe K. Kosgei ◽  
Astrid Christoffersen-Deb ◽  
Benson Kiragu ◽  
John N. Hector ◽  
...  
Keyword(s):  
Family History ◽  
Pregnant Women ◽  
Gestational Age ◽  
Fasting Glucose ◽  
Case Control ◽  
Oral Glucose ◽  
Control Analysis ◽  
History Of ◽  
Women With Hiv ◽  
Nested Case Control

Introduction. Gestational diabetes is a common complication, whose incidence is growing globally. There is a pressing need to obtain more data on GDM in low- and middle-income countries, especially amongst high-risk populations, as most of the data on GDM comes from high-income countries. With the growing awareness of the role HIV plays in the progression of noncommunicable diseases and the disproportionate HIV burden African countries like Kenya face, investigating the potential role HIV plays in increasing dysglycemia amongst pregnant women with HIV is an important area of study. Methods. The STRiDE study is one of the largest ever conducted studies of GDM in Kenya. This study enrolled pregnant women aged between 16 and 50 who were receiving care from public and private sector facilities in Eldoret, Kenya. Within this study, women received venous testing for glycosylated hemoglobin (HbA1c) and fasting glucose between 8- and 20-week gestational age. At their 24-32-week visit, they received a venous 75 g oral glucose tolerance test (OGTT). Because of the pressing need to assess the burden of GDM within the population of pregnant women with HIV, a nested case-control study design was used. Pregnant women with HIV within the larger STRiDE cohort were matched to non-HIV-infected women within the STRiDE cohort at a 1 : 3 ratio based on body mass index, parity, family history of GDM, gestational age, and family history of hypertension. The measurements of glucose from the initial visit (fasting glucose and HbA1c) and follow-up visit (OGTT) were compared between the two groups of HIV+ cases and matched HIV- controls. Results. A total of 83 pregnant women with HIV were well matched to 249 non-HIV-infected women from the STRiDE cohort with marital status being the only characteristic that was statistically significantly different between the two groups. Statistically significant differences were not observed in the proportion of women who developed GDM, the fasting glucose values, the HbA1c, or OGTT measurements between the two groups. Discussion. Significant associations were not seen between the different measures of glycemic status between pregnant women with and without HIV. While significant differences were not seen in this cohort, additional investigation is needed to better describe the association of dysglycemia with HIV, especially in Kenyan populations with a higher prevalence of GDM.

scholarly journals A Dynamic Family History model Of Hereditary Nonpolyposis Colorectal Cancer and Critical Illness Insurance

2007 ◽  
Vol 2 (2) ◽  
pp. 289-325 ◽  
Author(s):  
L. Lu ◽  
A. S. Macdonald ◽  
H. R. Waters ◽  
F. Yu
Keyword(s):  
Colorectal Cancer ◽  
Critical Illness ◽  
Family History ◽  
Hereditary Nonpolyposis Colorectal Cancer ◽  
Familial Aggregation ◽  
Family History Information ◽  
Dna Mismatch ◽  
Genetic Test Results ◽  
Hereditary Nonpolyposis ◽  
History Of

ABSTRACTHereditary nonpolyposis colorectal cancer (HNPCC) is characterised by the familial aggregation of cancer of the colon and rectum (CRC). It may be caused by any of five mutations in DNA mismatch repair (MMR) genes or by non-genetic factors, such as life style. However, it accounts for only about 2% of CRC, which is a very common cancer. Previous actuarial models, of diseases with only genetic causes, assumed that a family history of the disease shows mutations to be present, but this is not true of HNPCC. This is a significant limitation, since the best information available to an underwriter (especially if the use of genetic test results is banned) is likely to be knowledge of a family history of CRC. We present a Markov model of CRC and HNPCC, which includes the presence of a family history of CRC as a state, and estimate its intensities allowing for MMR genotype. Using this we find the MMR mutation probabilities for an insurance applicant with a family history of CRC. Our model greatly simplifies the intensive computational burden of finding such probabilities by integrating over complex models of hidden family structure. We estimate the costs of critical illness insurance given the applicant's genotype or the presence of a family history. We then consider what the cost of adverse selection might be, if insurers are unable to use genetic tests or family history information. We also consider the effect of using alternative definitions of a family history in underwriting.

The Early Findings From A Surveillance Screening Program For Women With A Family History Of Breast Cancer

2008 ◽  
Vol 34 (10) ◽  
pp. 1193
Author(s):  
Jonathan Jones ◽  
E. Vaughan-Williams ◽  
K. Gower-Thomas ◽  
S. Bolt
Keyword(s):  
Breast Cancer ◽  
Family History ◽  
Screening Program ◽  
History Of

Parental family history of dementia in relation to subclinical brain disease and dementia risk

Neurology ◽  
2017 ◽  
Vol 88 (17) ◽  
pp. 1642-1649 ◽  
Author(s):  
Frank J. Wolters ◽  
Sven J. van der Lee ◽  
Peter J. Koudstaal ◽  
Cornelia M. van Duijn ◽  
Albert Hofman ◽  
...  
Keyword(s):  
Risk Factors ◽  
Family History ◽  
Genetic Risk ◽  
Brain Mri ◽  
Age At Onset ◽  
Age At Diagnosis ◽  
Parental History ◽  
Dementia Risk ◽  
History Of ◽  
Parental Family

Objective:To determine the association of parental family history with risk of dementia by age at onset and sex of affected parent in a population-based cohort.Methods:From 2000 to 2002, we assessed parental history of dementia in participants without dementia of the Rotterdam Study. We investigated associations of parental history with risk of dementia until 2015, adjusting for demographics, cardiovascular risk factors, and known genetic risk variants. Furthermore, we determined the association between parental history and markers of neurodegeneration and vascular disease on MRI.Results:Of 2,087 participants (mean age 64 years, 55% female), 407 (19.6%) reported a history of dementia in either parent (mean age at diagnosis 79 years). During a mean follow-up of 12.2 years, 142 participants developed dementia. Parental history was associated with risk of dementia independently of known genetic risk factors (hazard ratio [HR] 1.67, 95% confidence interval [CI] 1.12–2.48), in particular when parents were diagnosed at younger age (<80 years: HR 2.58, 95% CI 1.61–4.15; ≥80 years: HR 1.01, 95% CI 0.58–1.77). Accordingly, age at diagnosis in probands was highly correlated with age at diagnosis in their parents <80 years (r = 0.57, p = 0.001) but not thereafter (r = 0.17, p = 0.55). Among 1,161 participants without dementia with brain MRI, parental history was related to lower cerebral perfusion and higher burden of white matter lesions and microbleeds. Dementia risk and MRI markers were similar for paternal and maternal history.Conclusions:Parental history of dementia increases risk of dementia, primarily when age at parental diagnosis is <80 years. Unexplained heredity may be attributed in part to cerebral hypoperfusion and small vessel disease. We found no evidence of preferential maternal compared to paternal transmission.

scholarly journals Misanian Men, are or aren't a Prostatic Adenocarcinoma?

2021 ◽  
Vol 14 ◽  
pp. 1-4
Author(s):  
Haider Qasim Alhelfi
Keyword(s):  
Prostate Cancer ◽  
Diabetes Mellitus ◽  
Risk Factor ◽  
Family History ◽  
Prostatic Carcinoma ◽  
Screening Program ◽  
High Grade ◽  
History Of ◽  
Male Patients ◽  
Oncology Center

It is an observational study in Al-Shafaa Oncology Center in Misan province about male patients with prostatic carcinoma to make an idea about the prevalence of this malignancy. This study was carried out during the period from July 2018 to March 2019 in Al-Shafaa Oncology Center in Al-Sadder teaching hospital in Misan province in which 53 male patients were involved. In our study we found that that the disease reaching a peak among patients between (70-80) years, (66.03%) of patients are a smoker (13.2%), had a family history of different type of cancer, (100%) of the patients had adenocarcinoma, (56.6%) that had high-grade cancer (Gleason score ˃8), (77.35%) of the patient had PSA level >100 ng/ml. The prostate cancer in Misan appears to be more likely to occur in the presence of particular risk factor like age, hypertension, family history, and less likely in the presence of diabetes mellitus. It is more likely to be presented with high grade and metastatic disease, and this may be primarily explained by the absence of the screening program.

Exploring a possible relationship of germline CDKN2A mutations with breast cancer in a multigene panel cohort.

2017 ◽  
Vol 35 (15_suppl) ◽  
pp. e23218-e23218 ◽  
Author(s):  
Darling J Horcasitas ◽  
Holly LaDuca ◽  
Amal Yussuf ◽  
Ginger Chisholm ◽  
Jonah R Chavez ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Pancreatic Cancer ◽  
Family History ◽  
Breast Cancer Diagnosis ◽  
Case Control ◽  
Control Analysis ◽  
Cdkn2a Mutation ◽  
Mutation Carriers ◽  
History Of ◽  
Relationship Of

e23218 Background: Germline mutations in CDKN2A have been known to increase the risk of melanoma and pancreatic cancer compared to the general population. With the advent of multi-gene panels, individuals who may not have melanoma or pancreatic cancer are undergoing CDKN2A analysis. Previous studies in homogenous populations have suggested that breast cancer risks may also be increased in CDKN2A. This study aims to further evaluate a possible relationship of CDKN2A mutations with breast cancer through a series of case-control comparisons. Methods: Clinical histories and molecular results were retrospectively reviewed for patients undergoing CDKN2A analysis as part of two diagnostic pan-cancer panels at a single laboratory to ascertain CDKN2A mutation carriers (n = 104) and patients negative for all genes analyzed (n = 20,280). Patients with a personal and/or family history (1st and 2nd degree relatives) of pancreatic cancer and/or melanoma were excluded from case-control analysis. Results: The majority of CDKN2A mutation carriers (82.6%, n = 86/104) had a personal history of cancer documented on the test requisition form. The most common cancers were breast (n = 38, 52.8%), melanoma (n = 37, 43.0%) and pancreatic (n = 6, 7.1%). The average age of breast cancer diagnosis in this cohort was 49.3 years (range 25-84). Family history of breast, melanoma, and/or pancreatic cancer was reported for 54.9%, 46.1%, and 34.3% of CDKN2A mutation carriers, respectively. Females with breast cancer were not more likely to test positive for a CDKN2A mutation than females with cancer other than breast (OR = 0.84, p = 0.79) or unaffected females (OR = 1.02, p = 1). Conclusions: Although CDKN2A mutations were not significantly associated with breast cancer in this cohort, these findings do not necessarily rule out an association of CDKN2A mutations with breast cancer, particularly if risks are moderate or if genotype-phenotype correlations exist. Additional studies involving breast cancer cases unselected for age and family history and/or longitudinal studies of CDKN2A carriers are needed to better understand the relationship between CDKN2A and breast cancer risk.

Do fears of getting cancer and family history of cancer influence participation in opportunistic screening or organized screening for gastric cancer?

2017 ◽  
Vol 35 (15_suppl) ◽  
pp. e13045-e13045
Author(s):  
Myung-Il Hahm ◽  
Kui Son Choi ◽  
Hoo-Yeon Lee ◽  
Mina Suh ◽  
Yoon Young Lee ◽  
...  
Keyword(s):  
Gastric Cancer ◽  
Cancer Screening ◽  
Family History ◽  
Screening Program ◽  
Opportunistic Screening ◽  
Screening Programs ◽  
Family History Of Cancer ◽  
History Of ◽  
Gastric Cancer Screening ◽  
History Of Cancer

e13045 Background: Cancer is the leading cause of death in Korea. Individuals with a family history of cancer might overestimate their personal risk for getting cancer and report high cancer-related worry or concern. Those factors could positively or negatively influence on cancer screening behavior. Although Korea has a universal screening program for common cancers, some people still choose opportunistic screening program with out-of-pocket costs. This study was to identify association between fears of getting cancer and participation on opportunistic anc organized screening programs for cancer. Methods: The study population was derived from the Korean National Cancer Screening Survey 2013, which is annual survey conducted by National Cancer Center of Korea in order to investigate trends of participation rates among general population in cancer screening. 3,004 individuals aged over 40 years were finally selected as study subjects. Chi-square tests and multinomial logistic regression model were used to identify factors associated with being screened for gastric cancer. Results: A total of 2,078 of the subjects (69.2%) underwent gastric cancer screening, of which 311 individuals (10.4%) participated in opportunistic and 1,767 individuals (58.8%) participated in organized screening programs. After adjusting socio-demographic factors and health behaviors, worry and concern about cancer were identified as factors positively associated with being screened for gastric cancer. ORs for undergoing gastric cancer screening were elevated for both screening programs according to the level of worry and concern about cancer (p for trend < 0.05). We did not found relationship between family history of gastric cancer and participation. Conclusions: The results of this study suggest that fears of getting cancer such as worry and concerned about cancer had a stronger influence on participation in not only organized screening program but also opportunistic screening program. We could identify that ORs for undergoing the opportunistic screening were slightly higher than those for undergoing the organized screening in terms of cancer worry and cancer concern.

Prospective assessment of the risk for colorectal neoplasia in a Mexican population according to risk categories.

2019 ◽  
Vol 37 (15_suppl) ◽  
pp. e15158-e15158
Author(s):  
Vanessa Rosas Camargo ◽  
Edgar Omar Martos Armendariz ◽  
Mauricio Rivera Aguilar ◽  
Jorge Humberto Hernandez-Felix ◽  
Monica Lily Cordon ◽  
...  
Keyword(s):  
Family History ◽  
High Risk ◽  
Screening Program ◽  
Smoking Status ◽  
Colorectal Neoplasia ◽  
Asia Pacific ◽  
Screening Colonoscopy ◽  
Average Risk ◽  
Prospective Assessment ◽  
History Of

e15158 Background: General population screening can reduce colorectal cancer (CRC) mortality. International guidelines recommend CRC screening for asymptomatic people over 50 years. There is no established national screening program in Mexico. Even in countries with low incidence of CRC such as Mexico, targeted screening of subjects at high risk could decrease resource utilization and cost. Our aim was to describe the distribution among an average-risk population based on risk for colorectal neoplasia (CRN). Methods: We performed a prospective assessment of the risk for CRN among asymptomatic people over 50 years at Instituto Nacional de Ciencias Médicas y Nutrición between 2017-2018. The inclusion was competitive consistent with our age-sex pyramid. We included workers, non-family attendants and patients (internal medicine consultation). Each subject answered a standardized questionnaire, which included information on their age, gender, family history of CRC, diabetes, body mass index (BMI), smoking status and drinking habits. In order to stratify the population according to their risk for CRN, we used the Asia-Pacific Colorectal Screening (APCS) score. Results: We included 256 subjects. Median age was 59 y/o (50-93), 52% were female. 5% had a first-degree relative with CRC. 44% were current or ex-smoker and 9% reported alcohol consumption. 21% had diabetes. The median BMI was 27.3 (17-51). According to the APCS score, 60% were assigned as average risk (AR) and 40% as high risk (HR) for CRN. We observed a higher proportion of HR compared to our previous retrospective data (Table). Conclusions: We prospectively confirmed that using basic clinical information (age, gender, smoking status, family history of CRC, BMI and diabetes), it is possible to identify a subset of asymptomatic subjects at high risk for CRN in whom screening strategies should be prioritized. In developing countries with limited resources, a focus on high risk groups could improve cost effectiveness of screening colonoscopy. Risk stratification based on APCS score. [Table: see text]

Sign in / Sign up

Export Citation Format

Share Document