scholarly journals The Importance of Ophthalmic Examination in Initial Diagnostic Process of Xanthoma: Two Case Reports and Literature Review of Cerebrotendinous Xanthomatosis

2021 ◽  
Vol 5 (Supplement_1) ◽  
pp. A312-A313
Author(s):  
Insun Goak ◽  
Seol A Jang ◽  
Ji Hyun Park
Keyword(s):  
Cardiovascular Disease ◽  
Early Diagnosis ◽  
High Plasma ◽  
Neurological Symptoms ◽  
Cerebrotendinous Xanthomatosis ◽  
Diagnostic Process ◽  
Specific Marker ◽  
Homozygous Mutation ◽  
Ophthalmic Examination ◽  
Premature Cardiovascular Disease

Abstract Background: Cerebrotendinous xanthomatosis (CTX) is a rare autosomal recessive disease where deficiency of sterol 27-hydroxylase leads to reduced production of CDCA. In such cases, life expectancy is only 4–6 decades, with progressive neurologic dysfunction such as dementia and spinal cord paresis, unless the condition is diagnosed early and treated appropriately. Herein, we aim to raise awareness regarding the importance of ophthalmic examination in evaluating of xanthoma. Clinical Cases: Case 1: In a 58-year-old man with no neurological symptoms; bilateral cataracts were detected during the initial diagnostic process. This patient had two siblings with xanthoma; one died from cerebral infarction and the other from biliary tract cancer. Another sibling had premature acute cardiovascular disease without xanthomas. Baseline lipid profiles were nearly within the normal range, while lipoprotein A was approximately 2.5 times higher than the normal. CTX was confirmed by the detection of a homozygous mutation in the CYP27A1 gene and high plasma cholestanol level (8.5 mg/L; reference range 0.0–5.0 mg/L). He has been taking oral CDCA (250 mg, three times daily). Case 2: In a 24-year-old man with no neurological symptoms or intellectual disability, premature bilateral cataracts were detected 1 year prior to diagnosis of CTX. None of his family members had xanthoma or premature cardiovascular disease. Lipid profile showed a similar pattern to that of Case 1; CTX was confirmed by the detection of a homozygous mutation in the CYP27A1 gene and high plasma cholestanol level (21.33 mg/L). One year after starting CDCA (250 mg, three times daily), cholestanol levels dropped to 7.34 mg/L. They were measured annually and identified as 5.08 mg/L, 4.2 mg/L, 4.7 mg/L, and 3.8 mg/L at 24, 38, 61, and 72 months, respectively. It took approximately 2 years for the normalization of his cholestanol level. There were no recurrences of xanthoma or progression of complications in target organs after 6 years of treatment. Conclusion: Early diagnosis improves the outcomes of CTX, allowing proper treatment. Bilateral cataracts caused by cholestanol buildup on the crystalline lens due to CTX usually occur within the first three decades of life. This manifestation does not occur in patients with xanthoma, familial hypercholesterolemia, or sitosterolemia. Taken together, this report suggests that premature bilateral cataracts are a specific marker that can accelerate early diagnosis of CTX. References: (1) Duell PB et al. Diagnosis, Treatment and Clinical Outcomes in 43 Cases with CTX. Journal of Clinical Lipidology. 2018;12:1169 (2) Salen G, Steiner RD. Epidemiology, diagnosis, and treatment of CTX. J Inherit Metab Dis 2017: 40:771

scholarly journals Right VI palsy revealing nasopharyngeal cancer (UCNT)

2021 ◽  
Vol 6 (4) ◽  
pp. 99-101
Author(s):  
H Belatik ◽  
H Attifi ◽  
M Hmidi ◽  
N Touihem ◽  
A El boukhari ◽  
...  
Keyword(s):  
Young Adults ◽  
Early Diagnosis ◽  
Nasopharyngeal Cancer ◽  
Neurological Symptoms ◽  
Diagnostic Process ◽  
Main Difficulty ◽  
Rapid Imaging ◽  
Clinical Consultation

VI paralysis is a frequent and classic pathology in the clinical consultation of ophthalmology. The main difficulty is the diagnostic process (for the etiology). In young adults, be aware of the possibility of a tumor with the correlation of rapid imaging. UCNT is frequent in Morocco, its neurological symptoms are misleading because we do not always think of examining the nasopharynx properly in the event of damage to the cranial pairs. Improving the prognosis for this cancer requires early diagnosis.

Imbalance of the C4A and C4B genes dosage as a robust risk factor for premature cardiovascular disease morbidity and mortality

2007 ◽  
Vol 44 (1-3) ◽  
pp. 173
Author(s):  
George Füst ◽  
Mária Sasvári ◽  
Bernadett Blaskó ◽  
Csaba Szalai ◽  
Róza Ádány ◽  
...  
Keyword(s):  
Cardiovascular Disease ◽  
Risk Factor ◽  
Morbidity And Mortality ◽  
Premature Cardiovascular Disease

scholarly journals Evaluation of Pleural Fluid Adenosine Deaminase Activity in Tubercular Pleural Effusion in a Military Hospital

2019 ◽  
Vol 11 (2) ◽  
pp. 69-75
Author(s):  
Md Kabir Uddin ◽  
Md Abdul Ali Mia ◽  
Mamun Mostafi ◽  
Mimi Parvin ◽  
Mainul Ahmed Chowdhury
Keyword(s):  
Pleural Effusion ◽  
Early Diagnosis ◽  
Surrogate Marker ◽  
Invasive Procedure ◽  
Armed Forces ◽  
Diagnostic Tools ◽  
Military Hospital ◽  
Specific Marker ◽  
Predictive Values ◽  
Adenosine Deaminase Activity

Introduction: Tubercular pleural effusion (TPE) is one of the common extra pulmonary tuberculosis which many a times become difficult to make definite diagnosis on account of low sensitivity and/or specificity of non-invasive diagnostic tools. Even pleural biopsy cannot establish all the diagnosis; rather after patient shows unwillingness to invasive procedure. A reliable sensitive and specific marker is required for early diagnosis of TPE as Bangladesh is a high Tuberculosis burden country. Adenine deaminase (ADA) may be a useful surrogate marker. Objective: To find out a reliable sensitive and specific marker for early diagnosis of TPE as Bangladesh is a high Tuberculosis burden country. Materials and Methods: This study carried out ADA estimations in 170 cases of pleural effusion at Combined Military Hospital (CMH) Dhaka. Efforts were made to reach diagnosis by other means. Results: ADA level was found in tubercular pleural effusion ranges from 25 to 180 with a mean 71.51 ±33.1. It ranges 3 U/L to 170U/L with non-tubercular effusion with a mean 20.96±16.71. The sensitivity of ADA is 90.9% and specificity is 95.7% in diagnosing TPE. The positive and negative predictive values are 90.91 % and 95.65% respectively. Conclusion: ADA is found cheap, sensitive and a useful surrogate marker. However, it is not a confirmatory diagnostic tool but can be used as a reliable adjunct to other investigations. Journal of Armed Forces Medical College Bangladesh Vol.11(2) 2015: 69-75

scholarly journals Artificial intelligence assisted electrocardiography for early diagnosis of thyrotoxic periodic paralysis

2021 ◽  
Author(s):  
Chin Lin ◽  
Chin-Sheng Lin ◽  
Ding-Jie Lee ◽  
Chia-Cheng Lee ◽  
Sy-Jou Chen ◽  
...  
Keyword(s):  
Artificial Intelligence ◽  
Early Diagnosis ◽  
Validation Cohort ◽  
Laboratory Data ◽  
Diagnostic System ◽  
Periodic Paralysis ◽  
Medical Emergency ◽  
Diagnostic Process ◽  
Routine Laboratory ◽  
Thyrotoxic Periodic Paralysis

Abstract CONTEXT Thyrotoxic periodic paralysis (TPP) characterized by acute weakness, hypokalemia and hyperthyroidism is a medical emergency with a great challenge in early diagnosis since most TPP patients do not have overt symptoms. OBJECTIVE To assess artificial intelligence (AI)-assisted electrocardiography (ECG) combined with routine laboratory data in the early diagnosis of TPP. METHODS A deep learning model (DLM) based on ECG12Net, an 82-layer convolutional neural network, was constructed to detect hypokalemia and hyperthyroidism. The development cohort consisted of 39 ECGs from patients with TPP and 502 ECGs of hypokalemic control; the validation cohort consisted of 11 ECGs of TPP and 36 ECGs of non-TPP with weakness. The AI-ECG based TPP diagnostic process was then consecutively evaluated in 22 male patients with TTP-like features. RESULTS In the validation cohort, the DLM-based ECG system detected all cases of hypokalemia in TPP patients with a mean absolute error of 0.26 mEq/L and diagnosed TPP with an area under curve (AUC) of ~80%, surpassing the best standard ECG parameter (AUC=0.7285 for the QR interval). Combining the AI predictions with the estimated glomerular filtration rate (eGFR) and serum chloride (Cl -) boosted the diagnostic accuracy of the algorithm to AUC 0.986. In the prospective study, the integrated AI and routine laboratory diagnostic system had a PPV of 100% and F-measure 87.5%. CONCLUSIONS An AI-ECG system reliably identifies hypokalemia in patients with paralysis and integration with routine blood chemistries provides valuable decision support for the early diagnosis of TPP.

Oxidized LDL metabolites with high family risk for premature cardiovascular disease

2002 ◽  
Vol 69 (9) ◽  
pp. 755-759 ◽  
Author(s):  
Roya Kelishadi ◽  
Gholam Ali Nadery ◽  
Sedigheh Asgary
Keyword(s):  
Cardiovascular Disease ◽  
Oxidized Ldl ◽  
Family Risk ◽  
Premature Cardiovascular Disease

P647An audit of possible familial hypercholesterolaemia in general practice

2019 ◽  
Vol 40 (Supplement_1) ◽  
Author(s):  
J Gallagher ◽  
M McGuckin ◽  
D Behan ◽  
P Harrington
Keyword(s):  
Cardiovascular Disease ◽  
General Practice ◽  
Familial Hypercholesterolaemia ◽  
Lipid Lowering ◽  
Inclusion Criteria ◽  
Clinical Notes ◽  
Structured Care ◽  
Premature Cardiovascular Disease ◽  
History Of ◽  
The Mean

Abstract Background Familial hypercholesterolaemia (FH) is an autosomal dominant condition associated with elevated total cholesterol and low-density lipoprotein (LDL). It confers an increased risk of premature cardiovascular disease and associated mortality. It is estimated that the majority of patients with FH in Ireland are undiagnosed and structured care programmes are not available. Purpose To undertake an audit of those patients in a general practice with possible FH Methods A retrospective audit was carried out on the patients attending a GP practice. Inclusion criteria for the study were as follows: LDL level >4.9mmol/L Triglyceride level (<2mmol/L) Data was collected from the patients' clinical notes and patients were interviewed to acquire additional details not available in the clinical notes where possible. A Dutch Lipid Clinic Network Score (DLCNS) was calculated for each patient. Results Of 5,438 patients with a LDL recorded 284 patients fulfilled the inclusion criteria. 52.4% were female. Mean age 60 years old (range: 19–95 years). The highest LDL level recorded for these patients ranged from 5.0 - 8.6 mmol/L, with a mean value of 5.4 mmol/L. The mean most recent LDL level was 3.6mmol/L (range: 1.0–6.3 mmol/L). 42 patients (14.8%) had a family history of premature coronary and/or vascular disease in line with DLCNS criteria. 9 patients (3.2%) had a personal history of premature cardiovascular disease. The DLCNS was calculated for each patient based on the information available. 225 patients (79.2%) had a score of 3, 36 patients (12.7%) had a score of 4, 12 patients (4.2%) had a score of 5 and 6 patients (2.1%) had a score of 6. This equates to 273 patients (96.1%) with a possible diagnosis of FH, and 6 patients (2.1%) with a probable diagnosis of FH. The mean most recent systolic blood pressure reading for these patients was 128mmHg, and diastolic 76mmHg. 51 patients (18%) were current smokers, 83 (29.2%) were ex-smokers, and 111 (39%) had never smoked. Smoking status was unknown for 38 patients (13.4). 128 patients (45%) were on lipid-lowering treatment at the time of this audit. 60 (21.1%) were on high intensity treatment, 68 (23.9%) were on medium intensity treatment and none were on low intensity treatment. 24.3% of patients were at target LDL. There were 5 patients (1.8%) currently receiving ezetimibe and 1 (0.4%) on fenofibrate. Conclusion A significant number of patients had a LDL >5mmol/l in this audit. Only 45% were on lipid lowering treatment and 24.3% were at a target LDL. This highlights the needs for structured programmes for screening and management of FH in primary care. Acknowledgement/Funding Funded by an unrestricted grant from Amgen

scholarly journals Early diagnosis of ataxia telangiectasia in the neonatal phase: a parents’ perspective

2019 ◽  
Vol 179 (2) ◽  
pp. 251-256 ◽  
Author(s):  
M. H. D. Schoenaker ◽  
M. Blom ◽  
M. C. de Vries ◽  
C. M. R. Weemaes ◽  
M. van der Burg ◽  
...  
Keyword(s):  
Family Planning ◽  
Early Diagnosis ◽  
Healthy Child ◽  
Ataxia Telangiectasia ◽  
Neonatal Screening ◽  
Neurodegenerative Disorder ◽  
Severe Combined Immunodeficiency ◽  
Diagnostic Process ◽  
Combined Immunodeficiency ◽  
Asymptomatic Phase

Abstract Ataxia telangiectasia (A-T) is a severe neurodegenerative disorder with variable immunodeficiency. Together with the Dutch A-T community, we investigated the opinion of A-T parents on an early A-T diagnosis in the asymptomatic phase of the disease. During an annual national meeting for A-T patients and families, the topic of an early A-T diagnosis was discussed in relation to the recent introduction of neonatal screening for severe combined immunodeficiency (SCID) in the Netherlands. Based on the discussion, individual arguments were identified and processed into a questionnaire, which was sent out to 64 A-T parents (32 families). Arguments included were insecurity to diagnosis, possible medical advantages, appropriate genetic counseling and family planning, loss of “golden” year(s), and early cancer screening for parents. The response rate was 55% (n = 35 parents). Twenty-six (74%) parents felt that the advantages of an early diagnosis outweighed the disadvantages, five parents thought that the disadvantages would outweigh the advantages (14%), and four parents did not indicate a preference. Conclusion: The majority of parents of a child with A-T would have preferred an early diagnosis during the asymptomatic phase of the disease, because the uncertainty during the diagnostic process had had a major impact on their lives. In addition, the knowledge of being carriers of an ATM gene mutation influenced decisions about family planning. Parents who opposed against an early diagnosis emphasized the joy of having a seemingly healthy child until diagnosis.What is Known:• Ataxia telangiectasia (A-T) is a devastating DNA repair disorder with a huge impact on quality of life of patients and their parents.• Patients with A-T may incidentally be identified at birth as the consequence of neonatal screening for severe combined immunodeficiency (SCID).What is New:• The majority of Dutch parents of A-T patients (74%) would have preferred an early diagnosis of their child in the asymptomatic phase of the disease.• Major arguments for an early A-T diagnosis were (1) the experienced insecurity in diagnostic trajectories and its impact on families and (2) the knowledge of being ATM mutation carriers when deciding about family planning. An argument against an early diagnosis is losing the joy of having a seemingly healthy child until diagnosis.

scholarly journals High prevalence of obesity in rheumatoid arthritis patients: association with disease activity, hypertension, dyslipidemia and diabetes, a multi-center study

2019 ◽  
Vol 59 (1) ◽  
Author(s):  
Maria Fernanda Brandão de Resende Guimarães ◽  
Carlos Ewerton Maia Rodrigues ◽  
Kirla Wagner Poti Gomes ◽  
Carla Jorge Machado ◽  
Claiton Viegas Brenol ◽  
...  
Keyword(s):  
Rheumatoid Arthritis ◽  
Risk Factors ◽  
Cardiovascular Disease ◽  
Cardiovascular Risk ◽  
Disease Activity ◽  
Cardiovascular Risk Factors ◽  
Laboratory Data ◽  
Premature Cardiovascular Disease ◽  
Prevalence Of Obesity ◽  
The Mean

Abstract Introduction Rheumatoid arthritis (RA) is a well-documented independent risk factor for cardiovascular disease. Obesity may provide an additional link between inflammation and accelerated atherosclerosis in RA. Objective To evaluate the association between obesity and disease parameters and cardiovascular risk factors in RA patients. Method Cross-sectional study of a cohort of RA patients from three Brazilian teaching hospitals. Information on demographics, clinical parameters and the presence of cardiovascular risk factors was collected. Blood pressure, weight, height and waist circumference (WC) were measured during the first consultation. Laboratory data were retrieved from medical records. Obesity was defined according to the NCEP/ATPIII and IDF guidelines. The prevalence of obesity was determined cross-sectionally. Disease activity was evaluated using the DAS28 system (remission < 2.6; low 2.6–3.1; moderate 3.2–5.0; high > 5.1). Results The sample consisted of 791 RA patients aged 54.7 ± 12.0 years, of whom 86.9% were women and 59.9% were Caucasian. The mean disease duration was 12.8 ± 8.9 years. Three quarters were rheumatoid factor-positive, the mean body mass index (BMI) was 27.1 ± 4.9, and the mean WC was 93.5 ± 12.5 cm. The observed risk factors included dyslipidemia (34.3%), type-2 diabetes (15%), hypertension (49.2%) and family history of premature cardiovascular disease (16.5%). BMI-defined obesity was highly prevalent (26.9%) and associated with age, hypertension and dyslipidemia. Increased WC was associated with diabetes, hypertension, dyslipidemia and disease activity. Conclusion: Obesity was highly prevalent in RA patients and associated with disease activity.

Sign in / Sign up

Export Citation Format

Share Document