scholarly journals Pseudohypertriglyceridemia: A Novel Case with Important Clinical Implications

2020 ◽  
Vol 2020 ◽  
pp. 1-4
Author(s):  
Ankur Rughani ◽  
Kenneth Blick ◽  
Hui Pang ◽  
Monica Marin ◽  
Jonathan Meyer ◽  
...  
Keyword(s):  
Gestational Diabetes ◽  
Diagnostic Accuracy ◽  
Missense Mutation ◽  
Serum Triglyceride ◽  
Male Infant ◽  
Glycerol Kinase ◽  
Clinical Implications ◽  
Glycerol Kinase Deficiency ◽  
Serum Glycerol

Pseudohypertriglyceridemia is an overestimation of serum triglyceride levels that may incorrectly lead to a diagnosis of hypertriglyceridemia. Glycerol kinase deficiency is a condition in which glycerol cannot be phosphorylated to glycerol-3-phosphate, resulting in elevated levels of serum glycerol. Laboratory assays that measure triglycerides indirectly may be affected by elevated glyerol levels and incorrectly report serum tryglyceride levels. We present a case of a novel missense mutation in the GK gene leading to isolated glycerol kinase deficiency and pseudohypertriglyceridemia in a male infant of a mother with gestational diabetes. This paper reviews glycerol kinase deficiency, describes the challenges in diagnosing pseudohypertriglyceridemia, and provides suggestions on improving diagnostic accuracy. Additionally, a potential maternal-fetal interaction between gestational diabetes and glycerol kinase deficiency is discussed.

Diagnostic accuracy of modified Hadlock formula for fetal macrosomia in women with gestational diabetes and pregnancy weight gain above recommended

2021 ◽  
Vol 0 (0) ◽  
Author(s):  
Boris Lovrić ◽  
Siniša Šijanović ◽  
Joško Lešin ◽  
Josip Juras
Keyword(s):  
Weight Gain ◽  
Gestational Diabetes ◽  
Diagnostic Accuracy ◽  
Area Under The Curve ◽  
Fetal Weight ◽  
Pregnancy Weight Gain ◽  
Singleton Pregnancy ◽  
Time Period ◽  
Modified Formula ◽  
Pregnancy Weight

Abstract Objectives Women with gestational diabetes (GDM) and weight gain during pregnancy above recommended more often give birth to macrosomic children. The goal of this study was to evaluate the diagnostic accuracy of the modified formula for ultrasound assessment of fetal weight created in a pilot study using a similar specimen in comparison to the Hadlock-2 formula. Methods This is a prospective, cohort, applicative, observational, quantitative, and analytical study, which included 213 pregnant women with a singleton pregnancy, GDM, and pregnancy weight gain above recommended. Participants were consecutively followed in the time period between July 1st, 2016, and August 31st, 2020. Ultrasound estimations were made within three days before the delivery. Fetal weights estimated using both formulas were compared to the newborns’ weights. Results A total of 133 fetal weight estimations were made. In comparison to the newborns’ weight modified formula had significantly smaller deviation in weight estimation compared to the Hadlock-2 formula, higher frequency of deviation within 5% of newborns weights (78.2% [95% CI=0.74–0.83] vs. 60.2%), smaller frequency of deviations from 5 to 10% (19.5 vs. 33.8%) and above 10%, which was even more significant among macrosomic children. There were 36/50 (72%) correctly diagnosed cases of macrosomia by modified and 33/50 (66%) by Hadlock-2 formula. Area under the curve (AUC) for the modified formula was 0.854 (95% CI=0.776–0.932), and for the Hadlock-2 formula 0.824 (95% CI=0.740–0.908). The positive predictive value of the modified formula was 81.81%, the negative 97.91%. Conclusions In cases of greater fetal weights, the modified formula showed greater precision.

Human glycerol kinase deficiency with hyperglycerolemia and glyceroluria

1977 ◽  
Vol 78 (4) ◽  
pp. 1327-1333 ◽  
Author(s):  
Edward R.B. McCabe ◽  
Paul V. Fennessey ◽  
Mary Anne Guggenheim ◽  
Barbara S. Miles ◽  
William W. Bullen ◽  
...  
Keyword(s):  
Glycerol Kinase ◽  
Glycerol Kinase Deficiency

scholarly journals Recém-nascido com deficiência de glicerol quinase: um caso clínico

2018 ◽  
Vol 28 (3) ◽  
pp. 31385
Author(s):  
Cristina Duarte P. V. G. Madureira ◽  
Cláudia Teles-Silva ◽  
Cláudia Melo ◽  
Susana Gama de Sousa
Keyword(s):  
Emergency Department ◽  
Metabolic Acidosis ◽  
Birth Weight ◽  
Physical Examination ◽  
Laboratory Tests ◽  
Neonatal Period ◽  
Glycerol Kinase ◽  
Glutamic Pyruvic Transaminase ◽  
Glycerol Kinase Deficiency ◽  
Hypernatremic Dehydration

AIMS: To report the case of a newborn with glycerol kinase deficiency, in which an isolated mutation not yet described in the GK gene was identified.CASE DESCRIPTION: A neonate with 10 days of age was brought to the emergency department for refusal to feed with 24 hours of evolution. Physical examination showed a loss of 31% of birth weight and signs of dehydration. Laboratory tests revealed a metabolic acidosis with increased anion gap, creatinine 2.41 mg/dL, urea 306 mg/dL, hypernatremia (182 mEq/L), hyperkalemia (6.8 mEq/L), hyperchloremia (151 mEq/L), glutamic-oxalacetic transaminase 879 U/L, glutamic-pyruvic transaminase 243 U/L, triglycerides 725 mg/dL. Chromotagraphy of organic acids revealed hyperglycerolemia and glyceroluria compatible with glycerol kinase deficiency. The genetic study revealed a mutation not yet described: c.187T> C (p.S63P) as hemizygote status in the GK gene.CONCLUSIONS: The most frequent cause of hypernatremic dehydration in the neonatal period is maternal hypogalactia. In more severe cases of dehydration, other etiologies should be considered, including metabolic causes such as glycerol kinase deficiency. In this case a mutation not yet described in the GK gene was found.

scholarly journals Comparison of Venous and Capillary Sampling in Oral Glucose Testing for the Diagnosis of Gestational Diabetes Mellitus: A Diagnostic Accuracy Cross-Sectional Study Using Accu-Chek Inform II

Diagnostics ◽  
2020 ◽  
Vol 10 (12) ◽  
pp. 1011
Author(s):  
Sofia Nevander ◽  
Eva Landberg ◽  
Marie Blomberg ◽  
Bertil Ekman ◽  
Caroline Lilliecreutz
Keyword(s):  
Diabetes Mellitus ◽  
Gestational Diabetes ◽  
Gestational Diabetes Mellitus ◽  
Diagnostic Accuracy ◽  
Predictive Value ◽  
Cross Sectional Study ◽  
Oral Glucose ◽  
Sectional Study ◽  
Cross Sectional ◽  
Capillary Sampling

Gestational diabetes mellitus (GDM) is a common complication with negative impacts on mother and child. The primary aim of this study was to examine whether plasma glucose cutoffs for GDM diagnosis based on venous sampling can be replaced by cutoffs based on capillary sampling. A prospective cross-sectional study was performed at an antenatal care clinic including 175 pregnant women undergoing an oral glucose tolerance test (OGTT). Duplicate samples were collected by capillary and venous puncture while fasting and 1 h and 2 h after an OGTT. Both samples were analyzed on Accu-Chek Inform II. The cutoffs for a GDM diagnosis using capillary samples were corrected from 5.1 to 5.3 mmol/L for the fasting sample, from 10.0 to 11.1 mmol/L for the 1 h sample, and from 8.5 to 9.4 mmol/L for the 2-h sample using half of the dataset. Applying these cutoffs to the remaining dataset resulted in a sensitivity, specificity, and accuracy of 85.0%, 95.0%, and 90.3%, respectively, with a positive predictive value (PPV) of 83%, an negative predictive value (NPV) of 96%, and a positive negative likelihood ratio (LHR) of 16.4 using capillary sampling for the GDM diagnosis at fasting and 2-h after. Corrected cutoffs and capillary samples can be used for the diagnosis of GDM with maintained diagnostic accuracy using Accu-Chek Inform II.

scholarly journals Hypocalcaemia, Hypoglycaemia, Macrosomia and Congenital Cryptorchidism in a Male Offspring of a Mother with Overweight and Gestational Diabetes Mellitus

2016 ◽  
Vol 23 (4) ◽  
pp. 353-359
Author(s):  
Alphonsus N. Onyiriuka ◽  
Sandra O. Edorhe
Keyword(s):  
Diabetes Mellitus ◽  
Gestational Diabetes ◽  
Gestational Diabetes Mellitus ◽  
Male Infant ◽  
Total Serum ◽  
Left Testis ◽  
Family History Of Diabetes ◽  
Total Serum Calcium ◽  
The Right ◽  
Maternal Overweight

AbstractThis paper reports a case of a male infant born to a 32-year-old multiparous mother with overweight (BMI 28.5kg/m2) and gestational diabetes mellitus (GDM). The mother had fasting hyperglycaemia (range 5.7- 6.0mmol/L) noted at 24 weeks of pregnancy and was managed with diet alone. There is no family history of diabetes mellitus and the mother did not have pre-eclampsia. Physical examination of the infant revealed macrosomia (birthweight, 4600g) and bilateral congenital cryptorchidism. The baby suffered severe hypoglycaemia (blood glucose 1.7mmol/L) and hypocalcaemia (total serum calcium 1.03mmol/L), manifesting with seizures. He was successfully managed with 10% dextrose water and calcium gluconate infusion, using standard protocol. His karyotype is 46 XY. The patient was discharged from admission at the age of 10 days and was referred to the paediatric endocrinologist at the tertiary hospital. By 8 weeks of age, the right testis was noticed to have descended into the right scrotum. At the age of 3 months, the left testis was still not palpable either in the inguinal canal or the scrotal sac. The patient was lost to follow up. Conclusion: Diet-treated maternal overweight in association with GDM could potentially increase the risk for hypocalcaemia, hypoglycaemia, macrosomia and congenital cryptorchidism in the offspring, highlighting the need for physicians to assess for the presence of these morbidities in such infants.

Glycerol Kinase Deficiency

2011 ◽  
pp. 92-92
Author(s):  
Roger E. Stevenson ◽  
Charles E. Schwartz ◽  
R. Curtis Rogers
Keyword(s):  
Glycerol Kinase ◽  
Glycerol Kinase Deficiency

scholarly journals Five Reasons for the Failure to Diagnose Aldosterone Excess in Hypertension

2020 ◽  
Vol 52 (12) ◽  
pp. 827-833
Author(s):  
George P. Piaditis ◽  
Gregory Kaltsas ◽  
Athina Markou ◽  
George P. Chrousos
Keyword(s):  
Essential Hypertension ◽  
Diagnostic Accuracy ◽  
Diagnostic Tests ◽  
Performance Characteristics ◽  
Primary Hyperaldosteronism ◽  
Present Review ◽  
Clinical Implications

AbstractPrimary hyperaldosteronism (PA) is a well-known cause of hypertension although its exact prevalence amongst patients with apparent essential hypertension has been a matter of debate. A number of recent studies have suggested that mild forms of PA may be relatively common taking into consideration factors that were previously either overestimated or ignored when developing diagnostic tests of PA and when applying these tests into normotensive individuals. The performance characteristics and diagnostic accuracy of such tests are substantially increased when the adrenocorticotrophin effect, inappropriate potassium levels and their application in carefully selected normotensive individuals are considered. In the present review, we critically analyze these issues and provide evidence that several, particularly mild, forms of PA can be effectively identified exhibiting potentially important clinical implications.

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