scholarly journals Novel Insights Into Monogenic Obesity Syndrome Due to INPP5E Gene Variant: A Case Report of a Female Patient

2021 ◽  
Vol 12 ◽  
Author(s):  
Ana Drole Torkar ◽  
Magdalena Avbelj Stefanija ◽  
Sara Bertok ◽  
Katarina Trebušak Podkrajšek ◽  
Maruša Debeljak ◽  
...  
Keyword(s):  
Antihypertensive Medication ◽  
Severe Obesity ◽  
Retinal Dystrophy ◽  
Primary Amenorrhea ◽  
Rare Entity ◽  
Non Invasive ◽  
The Metabolic Syndrome ◽  
Caucasian Girl ◽  
Nutritional Advice ◽  
Obesity Syndrome

A Caucasian girl with consanguineous parents presented with early severe obesity and retinal dystrophy. A novel, homozygous gene truncating variant (c.1897C>T) in the INPP5E gene confirmed the diagnosis of MORMS (OMIM #610156). A novel clinical finding in the presented syndrome is progressive cone-rod type retinal dystrophy diagnosed at the age of four months that progressed in the 1st decade of life. Severe obesity, insulin resistance with hyperinsulinism, and impaired glucose tolerance developed alongside other components of the metabolic syndrome - dyslipidemia, arterial hypertension, and obstructive hypopnea in sleep. At the age of 14 years, primary amenorrhea persists. The patient is managed by regular nutritional advice, metformin, antihypertensive medication, and non-invasive respiratory support during sleep. Differential diagnosis of this rare entity is discussed in extend.

Cardiac and metabolic changes in long-term high fructose-fat fed rats with severe obesity and extensive intramyocardial lipid accumulation

2010 ◽  
Vol 298 (6) ◽  
pp. R1560-R1570 ◽  
Author(s):  
Lene N. Axelsen ◽  
Jacob B. Lademann ◽  
Jørgen S. Petersen ◽  
Niels-Henrik Holstein-Rathlou ◽  
Thorkil Ploug ◽  
...  
Keyword(s):  
Blood Pressure ◽  
Metabolic Syndrome ◽  
Animal Model ◽  
Glucose Tolerance ◽  
Lipid Accumulation ◽  
Severe Obesity ◽  
Ischemia Reperfusion ◽  
Western World ◽  
Cardiac Complications ◽  
The Metabolic Syndrome

Metabolic syndrome and obesity-related diseases are affecting more and more people in the Western world. The basis for an effective treatment of these patients is a better understanding of the underlying pathophysiology. Here, we characterize fructose- and fat-fed rats (FFFRs) as a new animal model of metabolic syndrome. Sprague-Dawley rats were fed a 60 kcal/100 kcal fat diet with 10% fructose in the drinking water. After 6, 12, 18, 24, 36, and 48 wk of feeding, blood pressure, glucose tolerance, plasma insulin, glucose, and lipid levels were measured. Cardiac function was examined by in vivo pressure volume measurements, and intramyocardial lipid accumulation was analyzed by confocal microscopy. Cardiac AMP-activated kinase (AMPK) and hepatic phospho enolpyruvate carboxykinase (PEPCK) levels were measured by Western blotting. Finally, an ischemia-reperfusion study was performed after 56 wk of feeding. FFFRs developed severe obesity, decreased glucose tolerance, increased serum insulin and triglyceride levels, and an initial increased fasting glucose, which returned to control levels after 24 wk of feeding. The diet had no effect on blood pressure but decreased hepatic PEPCK levels. FFFRs showed significant intramyocardial lipid accumulation, and cardiac hypertrophy became pronounced between 24 and 36 wk of feeding. FFFRs showed no signs of cardiac dysfunction during unstressed conditions, but their hearts were much more vulnerable to ischemia-reperfusion and had a decreased level of phosphorylated AMPK at 6 wk of feeding. This study characterizes a new animal model of the metabolic syndrome that could be beneficial in future studies of metabolic syndrome and cardiac complications.

scholarly journals Application of Machine Learning Algorithm to Predicting Metabolic Syndrome in Adults

2021 ◽  
Author(s):  
Narmin Mirzaei ◽  
Shayan Mostadaei ◽  
Farid Najafi ◽  
Mitra Darbandi ◽  
Yahya Pasdar
Keyword(s):  
Blood Pressure ◽  
Metabolic Syndrome ◽  
Reference Model ◽  
Learning Algorithm ◽  
Communicable Disease ◽  
International Diabetes Federation ◽  
Importance Value ◽  
Non Invasive ◽  
The Metabolic Syndrome ◽  
Large Populations

Abstract Background The prevalence of the metabolic syndrome (MetS) is increasing worldwide. Early detection of the MetS by valid and available indicators can help prevent, control and reduce its complications. This study aims to identify of most important anthropometric, biochemical and nutritional indices for predicting MetS. Methods This study conducted on 9,602 participants from baseline data of the Ravansar Non-Communicable Disease (RaNCD) cohort study including of adults aged 35–65 years. The reference model for MetS was considered according to International Diabetes Federation (IDF) criteria. We used a wrapper algorithm and area under ROC curve (AUC) for selection and assessing most important predictors of MetS. Results The importance value (IV) for components of the models for prediction of MetS was confirmed, before implementing the models. Identified model with components of age, waist circumference (WC), body mass index (BMI), fasting blood sugar (FBS), systolic-diastolic blood pressure (SBP-DBP), triglyceride (TG), hip circumference (HC) and AUC of 0.893 (95% CI: 0.884–0.902) for men and 0.867 (95% CI: 0.853–0.881) for women was a strongest model for predictive of MetS risk. The AUC (95% CI) for non-invasive model was 0.756 (0.746–0.766) in total population has a good predictive power for MetS risk with components of age, WC, BMI, SBP, DBP. Conclusion This study demonstrated that in addition to aggressive models, models non-invasive (anthropometric indices, blood pressure and energy intake) can be also a good and convenience screening tool to predict the MetS. The models, in addition to the application of clinical diagnosis, can be widely used in researches on large populations.

scholarly journals Diagnostic accuracy of the Finnish Diabetes Risk Score for the prediction of undiagnosed type 2 diabetes, prediabetes, and metabolic syndrome in the Lebanese University.

2020 ◽  
Author(s):  
Maher Abdallah ◽  
Safa SHARBAJI ◽  
Marwa SHARBAJI ◽  
Zeina DAHER ◽  
Tarek FAOUR ◽  
...  
Keyword(s):  
Type 2 Diabetes ◽  
Metabolic Syndrome ◽  
Risk Score ◽  
Diabetes Risk ◽  
Oral Glucose ◽  
Sample Population ◽  
Non Invasive ◽  
The Metabolic Syndrome ◽  
Diabetes Risk Score

Abstract Background: Risk scores were mainly proved to predict undiagnosed type 2 diabetes mellitus (UT2DM) in a non-invasive manner and to guide earlier clinical treatment. The objective of the present study was to assess the performance of the Finnish Diabetes Risk Score (FINDRISC) for detecting three outcomes: UT2DM, prediabetes, and the metabolic syndrome (MS).Methods: This was a prospective, cross-sectional study during which employees aged between 30 and 64, with no known diabetes and working within the faculties of the Lebanese University (LU) were conveniently recruited. Participants completed the FINDRISC questionnaire and their glucose levels were examined using both fasting blood glucose (FBG) and oral glucose tolerance tests (OGTT). Furthermore, they underwent lipid profile tests with anthropometry.Results: Of 713 subjects, 397 subjects (55.2% female; 44.8% male) completed the blood tests and thus were considered as the sample population. 7.6% had UT2DM, 22.9% prediabetes and 35.8% had MS, where men had higher prevalence than women for these 3 outcomes (P = 0.001, P = 0.003 and P = 0.001) respectively. The AUROC value with 95% Confidence Interval (CI) for detecting UT2DM was 0.795 (0.822 in men and 0.725 in women), 0.621(0.648 in men and 0.59 in women) for prediabetes and 0.710 (0.734 in men and 0.705 in women) for MS. The correspondent optimal cut-off point for UT2DM was 11.5 (sensitivity = 83.3% and specificity = 61.3%), 9.5 for prediabetes (sensitivity = 73.6% and specificity = 43.1%) and 10.5 (sensitivity = 69.7%; specificity = 56.5%) for MS.Conclusion: The FINDRISC can be considered a simple, quick, inexpensive, and non-invasive instrument to use in a Lebanese community of working people who are unaware of their health status and who usually report being extremely busy because of their daily hectic work for the screening of UT2DM and MS. However, it poorly screens for prediabetes in this context.

scholarly journals Detection of 46, XY Disorder of Sex Development (DSD) Based on Plasma Cell-Free DNA and Targeted Next-Generation Sequencing

Genes ◽  
2021 ◽  
Vol 12 (12) ◽  
pp. 1890
Author(s):  
Luigia De Falco ◽  
Carmelo Piscopo ◽  
Rossana D’Angelo ◽  
Eloisa Evangelista ◽  
Teresa Suero ◽  
...  
Keyword(s):  
Amniotic Fluid ◽  
Exome Sequencing ◽  
Single Gene ◽  
Disorders Of Sex Development ◽  
Prenatal Testing ◽  
Primary Amenorrhea ◽  
Disease Genes ◽  
Non Invasive ◽  
Sex Development ◽  
Cell Free Fetal Dna

Mutations in the HSD17B3 gene cause HSD17B3 deficiency and result in 46, XY Disorders of Sex Development (46, XY DSD). The diagnosis of 46, XY DSD is very challenging and not rarely is confirmed only at older ages, when an affected XY female presents with primary amenorrhea or develops progressive virilization. The patient described in this paper represents a case of discrepancies between non-invasive prenatal testing (NIPT) and ultrasound based fetal sex determination detected during prenatal screening. Exome sequencing was performed on the cell free fetal DNA (cffDNA), amniotic fluid, and the parents. Libraries were generated according to the manufacturer’s protocols using TruSight One Kits (Illumina Inc., San Diego, CA, USA). Sequencing was carried out on NEXT Seq 500 (Illumina) to mean sequencing depth of at least 100×. A panel of sexual disease genes was used in order to search for a causative variant. The finding of a mutation (c.645 A>T, p.Glu215Asp) in HSD17B3 gene in amniotic fluid as well as in cffDNA and both parents supported the hypothesis of the HSD17B3 deficiency. In conclusion, we used clinical exome sequencing and non-invasive prenatal detection, providing a solution for NIPT of a single-gene disorder. Early genetic diagnoses are useful for patients and clinicians, contribute to clinical knowledge of DSD, and are invaluable for genetic counseling of couples contemplating future pregnancies.

scholarly journals The mid-infrared spectroscopy: A novel non-invasive diagnostic tool for NASH diagnosis in severe obesity

JHEP Reports ◽  
2019 ◽  
Vol 1 (5) ◽  
pp. 361-368 ◽  
Author(s):  
Rodolphe Anty ◽  
Marie Morvan ◽  
Maëna Le Corvec ◽  
Clémence M Canivet ◽  
Stéphanie Patouraux ◽  
...  
Keyword(s):  
Infrared Spectroscopy ◽  
Diagnostic Tool ◽  
Severe Obesity ◽  
Mid Infrared ◽  
Mid Infrared Spectroscopy ◽  
Non Invasive

scholarly journals Diagnostic accuracy of the Finnish Diabetes Risk Score for the prediction of undiagnosed type 2 diabetes, prediabetes, and metabolic syndrome in the Lebanese University

2020 ◽  
Vol 12 (1) ◽  
Author(s):  
Maher Abdallah ◽  
Safa Sharbaji ◽  
Marwa Sharbaji ◽  
Zeina Daher ◽  
Tarek Faour ◽  
...  
Keyword(s):  
Type 2 Diabetes ◽  
Metabolic Syndrome ◽  
Risk Score ◽  
Diabetes Risk ◽  
Oral Glucose ◽  
Sample Population ◽  
Non Invasive ◽  
The Metabolic Syndrome ◽  
Diabetes Risk Score

Abstract Background Risk scores were mainly proved to predict undiagnosed type 2 diabetes mellitus (UT2DM) in a non-invasive manner and to guide earlier clinical treatment. The objective of the present study was to assess the performance of the Finnish Diabetes Risk Score (FINDRISC) for detecting three outcomes: UT2DM, prediabetes, and the metabolic syndrome (MS). Methods This was a prospective, cross-sectional study during which employees aged between 30 and 64, with no known diabetes and working within the faculties of the Lebanese University (LU) were conveniently recruited. Participants completed the FINDRISC questionnaire and their glucose levels were examined using both fasting blood glucose (FBG) and oral glucose tolerance tests (OGTT). Furthermore, they underwent lipid profile tests with anthropometry. Results Of 713 subjects, 397 subjects (55.2% female; 44.8% male) completed the blood tests and thus were considered as the sample population. 7.6% had UT2DM, 22.9% prediabetes and 35.8% had MS, where men had higher prevalence than women for these 3 outcomes (P = 0.001, P = 0.003 and P = 0.001) respectively. The AUROC value with 95% Confidence Interval (CI) for detecting UT2DM was 0.795 (0.822 in men and 0.725 in women), 0.621(0.648 in men and 0.59 in women) for prediabetes and 0.710 (0.734 in men and 0.705 in women) for MS. The correspondent optimal cut-off point for UT2DM was 11.5 (sensitivity = 83.3% and specificity = 61.3%), 9.5 for prediabetes (sensitivity = 73.6% and specificity = 43.1%) and 10.5 (sensitivity = 69.7%; specificity = 56.5%) for MS. Conclusion The FINDRISC can be considered a simple, quick, inexpensive, and non-invasive instrument to use in a Lebanese community of working people who are unaware of their health status and who usually report being extremely busy because of their daily hectic work for the screening of UT2DM and MS. However, it poorly screens for prediabetes in this context.

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