Keratoconus in a 4-year-old Girl with a Strong Family History of Keratoconus

Purpose: To present the diagnosis and management of the youngest-described keratoconus patient, despite the absence of any systemic or local risk factors except the presence of a strongly positive family history of keratoconus. Methods: A retrospective case report. Results: A 4-year-old female child with free past medical and ocular histories, and a strongly positive family history of keratoconus, presented with deterioration in her vision in the previous 6 months as observed by the family. Objective/subjective refraction showed high astigmatism. Corneal tomography using the Scheimpflug camera Pentacam® HR confirmed the diagnosis of keratoconus in both eyes. Conventional corneal collagen crosslinking (CXL) procedure was performed shortly with a stabilization effect observed over a 1-year follow up period. Conclusion: Keratoconus onset may occur in early childhood, especially in patients with strong family history of the disease even in the absence of systemic or ocular risk factors. So, early screening before the age of 4 years should be done for all children of a family history of keratoconus. Crosslinking may be an effective and safe procedure for very young patients diagnosed with keratoconus.

Download Full-text

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

Archives of Pathology & Laboratory Medicine ◽

10.5858/2005-129-1011-apatpp ◽

2005 ◽

Vol 129 (8) ◽

pp. 1011-1016 ◽

Cited By ~ 1

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 < .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%.

Download Full-text

Study of risk factors and its correlation with constraint induced movement therapy for atherosclerosis in patients of coronary artery disease and their offspring

International Journal of Advances in Medicine ◽

10.18203/2349-3933.ijam20200656 ◽

2020 ◽

Vol 7 (3) ◽

pp. 446

Author(s):

Venugopal Margekar ◽

Shweta Thakur ◽

O. P. Jatav ◽

Pankaj Yadav

Keyword(s):

Risk Factors ◽

Family History ◽

Positive Family History ◽

Surrogate Marker ◽

Control Group ◽

Medical College ◽

Constraint Induced Movement Therapy ◽

Group Data ◽

History Of ◽

Artery Disease

Background: A significant percent of cardiovascular event occurs without well-known modifiable risk. A new tool for early identification for atherosclerosis is required for early intervention. Aims and objectives of the study was to study the risk factors for CAD and its correlation with CIMT.Methods: One hundred and forty subjects were studied for the risk factors of CAD in Department of Medicine of G.R. Medical College, Gwalior from 2012 to 2013. Out of 140 subjects, 100 were patients having CAD and 40 age matched subjects were included as control group. Data was also recorded from their offspring. High resolution B mode ultrasonography was performed to assess CIMT of carotid arteries. The maximum CIMT of any one side of carotid artery was taken for study.Results: CAD was more prevalent among males (78%). Majority of the offspring of cases had age between 28-42 years and majority were male (73%). Most common risk factors for CAD was dyslipidemia (48%), hypertension (24%), diabetes (12%) and smoking (21%), whereas in offspring’s of CAD patients, dyslipidemia was seen in 28%, hypertension in 3%, diabetes and tobacco smoking in 12% and 24% respectively. The CIMT of CAD patients was significantly increased with increasing the number of risk factors and the same pattern was also seen in controls. The CIMT of asymptomatic offspring’s having positive family history was significantly more than the asymptomatic offspring without positive family history of CAD.Conclusions: CIMT measurements can be used as a surrogate marker of atherosclerosis as it has showed a direct link with number of risk factors of CAD.

Download Full-text

Parkinson’s disease determinants, prediction and gene–environment interactions in the UK Biobank

Journal of Neurology Neurosurgery & Psychiatry ◽

10.1136/jnnp-2020-323646 ◽

2020 ◽

Vol 91 (10) ◽

pp. 1046-1054 ◽

Cited By ~ 2

Author(s):

Benjamin Meir Jacobs ◽

Daniel Belete ◽

Jonathan Bestwick ◽

Cornelis Blauwendraat ◽

Sara Bandres-Ciga ◽

...

Keyword(s):

Risk Factors ◽

Parkinson’S Disease ◽

Parkinson's Disease ◽

Family History ◽

Genetic Risk ◽

Positive Family History ◽

Risk Scores ◽

Uk Biobank ◽

Gene Environment ◽

History Of

ObjectiveTo systematically investigate the association of environmental risk factors and prodromal features with incident Parkinson’s disease (PD) diagnosis and the interaction of genetic risk with these factors. To evaluate whether existing risk prediction algorithms are improved by the inclusion of genetic risk scores.MethodsWe identified individuals with an incident diagnosis of PD (n=1276) and controls (n=500 406) in UK Biobank. We determined the association of risk factors with incident PD using adjusted logistic regression models. We constructed polygenic risk scores (PRSs) using external weights and selected the best PRS from a subset of the cohort (30%). The PRS was used in a separate testing set (70%) to examine gene–environment interactions and compare predictive models for PD.ResultsStrong evidence of association (false discovery rate <0.05) was found between PD and a positive family history of PD, a positive family history of dementia, non-smoking, low alcohol consumption, depression, daytime somnolence, epilepsy and earlier menarche. Individuals with the highest 10% of PRSs had increased risk of PD (OR 3.37, 95% CI 2.41 to 4.70) compared with the lowest risk decile. A higher PRS was associated with earlier age at PD diagnosis and inclusion of the PRS in the PREDICT-PD algorithm led to a modest improvement in model performance. We found evidence of an interaction between the PRS and diabetes.InterpretationHere, we used UK Biobank data to reproduce several well-known associations with PD, to demonstrate the validity of a PRS and to demonstrate a novel gene–environment interaction, whereby the effect of diabetes on PD risk appears to depend on background genetic risk for PD.

Download Full-text

A retrospective study on breast cancer presentation, risk factors, and protective factors in patients with a positive family history of breast cancer

The Breast Journal ◽

10.1111/tbj.13520 ◽

2020 ◽

Vol 26 (3) ◽

pp. 469-473

Author(s):

Ying Yi Liaw ◽

Foong Shiang Loong ◽

Suzanne Tan ◽

Sze Yun On ◽

Evelyn Khaw ◽

...

Keyword(s):

Breast Cancer ◽

Risk Factors ◽

Retrospective Study ◽

Family History ◽

Protective Factors ◽

Positive Family History ◽

History Of

Download Full-text

Predictors of mammographic density among women with a strong family history of breast cancer

BMC Cancer ◽

10.1186/s12885-019-5855-2 ◽

2019 ◽

Vol 19 (1) ◽

Cited By ~ 1

Author(s):

Olivia Moran ◽

Andrea Eisen ◽

Rochelle Demsky ◽

Kristina Blackmore ◽

Julia A. Knight ◽

...

Keyword(s):

Breast Cancer ◽

Risk Factors ◽

Body Weight ◽

Family History ◽

Mammographic Density ◽

Premenopausal Women ◽

Percent Density ◽

Strong Family History ◽

Dense Area ◽

History Of

Abstract Background Mammographic density is one of the strongest risk factors for breast cancer. In the general population, mammographic density can be modified by various exposures; whether this is true for women a strong family history is not known. Thus, we evaluated the association between reproductive, hormonal, and lifestyle risk factors and mammographic density among women with a strong family history of breast cancer but no BRCA1 or BRCA2 mutation. Methods We included 97 premenopausal and 59 postmenopausal women (age range: 27-68 years). Risk factor data was extracted from the research questionnaire closest in time to the mammogram performed nearest to enrollment. The Cumulus software was used to measure percent density, dense area, and non-dense area for each mammogram. Multivariate generalized linear models were used to evaluate the relationships between breast cancer risk factors and measures of mammographic density, adjusting for relevant covariates. Results Among premenopausal women, those who had two live births had a mean percent density of 28.8% vs. 41.6% among women who had one live birth (P=0.04). Women with a high body weight had a lower mean percent density compared to women with a low body weight among premenopausal (17.6% vs. 33.2%; P=0.0006) and postmenopausal women (8.7% vs. 14.7%; P=0.04). Among premenopausal women, those who smoked for 14 years or longer had a lower mean dense area compared to women who smoked for a shorter duration (25.3cm2 vs. 53.1cm2; P=0.002). Among postmenopausal women, former smokers had a higher mean percent density (19.5% vs. 10.8%; P=0.003) and dense area (26.9% vs. 16.4%; P=0.01) compared to never smokers. After applying the Bonferroni correction, the association between body weight and percent density among premenopausal women remained statistically significant. Conclusions In this cohort of women with a strong family history of breast cancer, body weight was associated with mammographic density. These findings suggest that mammographic density may explain the underlying relationship between some of these risk factors and breast cancer risk, and lend support for the inclusion of mammographic density into risk prediction models.

Download Full-text

P990Assessment of clinical risk factors for all-cause mortality among hypertrophic cardiomyopathy patients with ICDs

European Heart Journal ◽

10.1093/eurheartj/ehz747.0583 ◽

2019 ◽

Vol 40 (Supplement_1) ◽

Author(s):

S Mielczarek ◽

P Syska ◽

M Lewandowski ◽

A Przybylski ◽

M Sterlinski ◽

...

Keyword(s):

Risk Factors ◽

Heart Failure ◽

Family History ◽

Secondary Prevention ◽

Positive Family History ◽

Left Ventricular ◽

Icd Implantation ◽

All Cause Mortality ◽

History Of ◽

End Stage

Abstract Introduction According to the literature, the annual mortality rate of hypertrophic cardiomyopathy (HCM) patients is estimated to 1–2%. Sudden cardiac death (SCD), heart failure and thromboembolism are the main causes of death among this population. Patients at high risk for SCD, identified using HCM risk score, are qualified for ICD implantation. Unfortunately for clinicians, there is no validated model or statistical tool for assessment of the risk of mortality within the HCM patients with ICDs. Purpose The aim of this study was to determine the main risk factors of all- cause mortality in HCM patients with ICDs. Methods The long-term follow-up of group of 104 consecutive patients with HCM, who had the ICD implanted between 1996 and 2006 in tertiary reference clinical unit was performed. Twenty patients who died during observation were the subject of the current analysis. ICD was implanted for primary (n=16) and secondary (n=4) prevention of SCD within this subpopulation. Analysis were performed for mentioned below potential risk factors: age at the time of implantation, syncopes, family history of SCD, atrial fibrillation/supraventricular tachycardia, decreased left ventricular ejection fraction (LVEF), non-sustained ventricular tachycardia (nsVT), maximum left ventricular wall thickness, abnormal exercise blood pressure response, left ventricular outflow tract obstruction. Results The average time of survival since ICD implantation was 8,5±4,6 years. Decreased LVEF (Wald chi2 4,57; p=0,033), secondary prevention (Wald chi2 8,57; p=0,003), family history of SCD (Wald chi2 4,93; p=0,026) and episodes of nsVT (Wald chi2 3,49; p=0,062) are the clinical risk factors that significantly affect the time of survival. The probability of death, expressed as Hazard Ratio, was 27-fold higher in secondary prevention group (HR=27,18), almost 10-fold higher in patients with positive family history of SCD (HR=9,74) and 3,7-fold higher when nsVT was detected. The cause of death was established in 16/20 patients. In 15 cases, these were deaths from cardiovascular causes: end-stage heart failure (8), complications of heart transplantation or circulatory support (4), SCD (1) and other cardiovascular (2). Conclusion Secondary prevention, positive family history of SCD, nsVT and decreased LVEF seem to be the most significant risk factors associated with all- cause mortality in HCM patients with ICDs. Despite the ICD implantation, subpopulation studied had poor prognosis with high incidence of progression to end-stage heart failure. Further studies to create validated model for assessment of death risk in long-term observation of patients with HCM after ICD implantation are required.

Download Full-text

Prevalence and Risk Factors for Glucose Intolerance among Saudi Women with Gestational Diabetes

Journal of Diabetes Research ◽

10.1155/2018/4282347 ◽

2018 ◽

Vol 2018 ◽

pp. 1-5 ◽

Cited By ~ 1

Author(s):

Hayfaa Wahabi

Keyword(s):

Risk Factors ◽

Family History ◽

Gestational Diabetes ◽

Glucose Intolerance ◽

Fasting Blood Glucose ◽

Positive Family History ◽

Family History Of Diabetes ◽

Saudi Women ◽

History Of ◽

One Year

Objectives. The objective of this study was to determine the incidence and risk factors of glucose intolerance one year after delivery in women with gestational diabetes (GDM). Methods. All women who had GDM and completed one year since delivery at King Khalid University Hospital were contacted to participate in the study. Based on to the American Diabetes Association criteria and the results of fasting blood glucose (FPG) and HbA1c, participants were classified into three groups: diabetic, impaired glucose tolerance (IGT), and normal. The incidence of diabetes and IGT was calculated. Clinical, biochemical, and sociodemographic predictors of glucose intolerance were compared between the three groups. Odds ratio (OR) for risk factors with P value less than 0.05 was calculated. Results. From a total 316 eligible women, 133 fulfilled the inclusion criteria and agreed to participate in the study. From the study participants, 58 (44%) women were normoglycemic, 60 (45%) women had IGT, and 15 (11%) women were diabetic. The odds of developing IGT or diabetes increased to nearly fourfold when women needed insulin for the control of GDM during pregnancy (OR 3.8, 95% CI 0.81–18.3, P=0.08) and to nearly one-and-a-half-fold when they have positive family history of T2DM (OR 1.2, 95% CI 0.74–2.09, P=0.40). Nevertheless, none of the odds ratios was statistically significant. Conclusion. The incidence of postpartum hyperglycemia (diabetes and IGT) is very high in Saudi women with GDM. Family history of diabetes and insulin treatment of GDM may be predictors of postpartum hyperglycemia.

Download Full-text

HLA DQ2 HAPLOTYPE, EARLY ONSET OF GRAVES DISEASE, AND POSITIVE FAMILY HISTORY OF AUTOIMMUNE DISORDERS ARE RISK FACTORS FOR DEVELOPING CELIAC DISEASE IN PATIENTS WITH GRAVES DISEASE

Endocrine Practice ◽

10.4158/ep15700.or ◽

2015 ◽

Vol 21 (9) ◽

pp. 993-1000 ◽

Cited By ~ 2

Author(s):

Piotr Miskiewicz ◽

Agata Gos-Zajac ◽

Alina Kurylowicz ◽

Teresa Maria Plazinska ◽

Maria Franaszczyk ◽

...

Keyword(s):

Risk Factors ◽

Celiac Disease ◽

Family History ◽

Early Onset ◽

Positive Family History ◽

Autoimmune Disorders ◽

Graves Disease ◽

History Of ◽

Hla Dq2

Download Full-text

Potential risk factors for developing diabetes mellitus type 2

Medicinski pregled ◽

10.2298/mpns1004231z ◽

2010 ◽

Vol 63 (3-4) ◽

pp. 231-236 ◽

Cited By ~ 1

Author(s):

Dusica Zivanovic ◽

Sandra Sipetic ◽

Marina Stamenkovic-Radak ◽

Jelena Milasin

Keyword(s):

Risk Factors ◽

Type 2 Diabetes ◽

Family History ◽

Physical Inactivity ◽

Positive Family History ◽

Diabetes Type 2 ◽

Diabetes Type ◽

Family History Of Diabetes ◽

History Of

Introduction Type 2 diabetes mellitus is a common multifactorial genetic syndrome, which is determined by several genes and environmental factors. The aim of the present study was to investigate the presence of risk factors for developing diabetes type 2 among diabetic individuals and to compare the presence of risk factors among diabetic individuals with and without positive family history for type 2 diabetes. Material and methods This study was conducted in Cuprija during the period from February to June 2002. The case group included 137 individuals having diagnosis type 2 diabetes. The control group included 129 subjects having the following diagnoses: hypertension, angina pectoris, chronic obstructive lung disease, gastric ulcer or duodenal ulcer. All participants were interviewed at the Medical Center Cuprija using structural questionnaire. The data were collected regarding demographic characteristics, exposure to various chemical and physical agents, stress, smoking, obesity, physical inactivity and family history of diabetes. In the statistical analysis chi square test was used. Results The diabetic individuals were statistically significantly older (40 and more years old) (p=0,000), and they came from rural areas more frequently (p=0,006) than the individuals without diabetes. Significantly more diabetics had lower educational level (p=0,000) and they were agriculture workers and housewives significantly more frequently (p=0,000) than nondiabetic individuals. Furthermore, obesity (p=0,000) and physical inactivity (p=0,003) were significantly more frequent among the diabetic individuals than the nondiabetics. The diabetic individuals had significanly (p=0,000) more numbers of relatives with diabetes mellitus type 2 than the nondiabetics. The diabetic individuals with positive family history of diabetes were significantly older (p=0,021) and more frequently from urban areas (p=0,018) than the diabetic individuals without the positive family history of diabetes. Also they were significantly less exposed to physical agents (p=0,004). Discussion In our study, like in many others, age, place of residence, education, occupation, obesity, physical inactivity, positive family history of diabetes type 2 and exposure to physical agents were identified as potential risk factors for diabetes type 2. Conclusion Different risk factors are probably responsible for developing type 2 diabetes among individuals with and without positive family history of type 2 diabetes.

Download Full-text

Prevalence of Psoriasis Vulgaris and Its Associated Risk Factors in Pakistan

Journal of Pharmaceutical Research International ◽

10.9734/jpri/2021/v33i43b32585 ◽

2021 ◽

pp. 390-395

Author(s):

Syeda Ujala Sohail ◽

Nasima Iqbal ◽

Ashok Kumar ◽

Sarwath Fatimee ◽

Ayesha Khan ◽

...

Keyword(s):

Risk Factors ◽

Standard Deviation ◽

Family History ◽

Psoriasis Vulgaris ◽

Age Of Onset ◽

Strong Association ◽

Positive Family History ◽

P Value ◽

History Of ◽

Associated Risk Factors

Aim: To find out the prevalence of psoriasis vulgaris and its associated risk factors. Study Design: Descriptive cross-sectional. Place and Duration of Study: Study was conducted at Rawalpindi Leprosy Hospital during January 2019 to December 2019. Methodology: The diagnosed cases of Psoriasis Vulgaris (PsV) were included in the study. All the patients were investigated on the basis of an in depth Performa. The Performa include all the relevant clinical and family history of the patient along with the personal details. Data was analyzed by using Statistical Package for the Social Sciences (SPSS) version 20. All the numerical variables were presented as mean with standard deviation while categorical data as frequency and percentages. The association of risk factors with the Psoriasis was calculated by using the Chi-square test. p-value less than 0.05 was considered as significant. Results: Mean age with standard deviation of patients was 34.7±14. Most of the diagnosed patients were male and below 40 years of age, only 4.2% cases were having positive family history of Psoriasis and found significant correlation. The frequency of onset of symptoms in adolescent was more as compared to childhood i.e. 95.3% and 4.7% respectively. Majority of psoriasis cases (65.3%) were from non-smoker group and having strong association with smoking. The frequency of arthritis among psoriasis patients was 23.7% and majority of the patients, who developed arthritis were those having age <40 year and were suffering from psoriasis since 5-10 years. Conclusion: Current study concluded that Psoriasis vulgar is having higher prevalence rate among male and below 40 years of age group. The results also suggested a strong association of severity of psoriasis with certain risk factors including family history, age of onset of symptoms, smoking and arthritis.

Download Full-text