scholarly journals Raised blood glucose due to heterozygous glucokinase gene mutation (GCK-MODY) diagnosed for the first time in pregnancy: The dilemmas and successful management – Case report and review of literature

2020 ◽  
pp. 1753495X1987457
Author(s):  
Sasirekha Rengaraj ◽  
Sutharsika Thiyagalingam ◽  
Vimala Kathirvel ◽  
CG Delhikumar

Glucokinase mutation (GCK-MODY) is frequently misdiagnosed as either type I or type II diabetes mellitus, especially if presented for the first time during pregnancy. Generally GCK-MODY affects 1–2% of individuals with a diagnosis of diabetes. The defect in the glucose sensing mechanism in GCK-MODY results in a higher set point for maintenance of glucose homeostasis. Treatment is not recommended outside the pregnancy; however, in pregnancy, fetal abdominal circumference helps to decide about the likelihood of the fetus having inherited the condition and therefore whether insulin is required in pregnancy. We present a case in which GCK-MODY was diagnosed for the first time after pregnancy; the subsequent pregnancy was uneventful. Genetic testing is mandatory to establish the diagnosis. Here the implications of MODY and its subtypes, along with the pattern of inheritance and management aspects are discussed.

2016 ◽  
Vol 293 (6) ◽  
pp. 1153-1159 ◽  
Author(s):  
Mauro Cozzolino ◽  
Federica Perelli ◽  
Luana Maggio ◽  
Maria Elisabetta Coccia ◽  
Michela Quaranta ◽  
...  

2020 ◽  
Vol 41 (Supplement_2) ◽  
Author(s):  
A Sharp ◽  
C Patient ◽  
J Pickett ◽  
M Belham

Abstract Background The syndrome of inappropriate sinus tachycardia (IST) is well recognized and affects ∼1% of the population. We believe IST in pregnancy is a relatively frequent yet under-recognized phenomenon that may represent a distinct arrhythmia. To date, there are only three case reports in the literature. Purpose To further understand the natural history of IST in pregnancy, and to explore maternal outcomes. Methods A retrospective, observational cohort analysis. Results 19 pregnant women presented to our institute with a definitive diagnosis of IST (as defined by task force criteria) between January 2016 and January 2017. Symptom onset was 4–36 weeks gestation (mean 20 weeks). Of those in their second or subsequent pregnancy (n=8), 50% described symptoms compatible with IST in previous pregnancies. 42% attended the emergency department on ≥1 occasion with symptoms of IST. 32% required hospital admission. 26% required pharmacological therapy (beta-blockers in all). There were no maternal deaths, instances of heart failure or acute coronary syndrome, no thromboembolic or haemorrhagic complications during pregnancy. Rates of Caesarean section were similar to the background rate of our unit; however, rates of induction were notably elevated (58% vs 25%), with 55% of these women being induced purely for symptoms of IST. Following delivery, symptoms resolved within one week for 17 of the women in the cohort, 1 had symptoms resolve after 4 month and 1 had persistent symptoms as she became pregnant again. Conclusion IST in pregnancy likely represents a distinct arrhythmia; the majority of individuals here had symptoms only during pregnancy, which resolved rapidly postpartum. Additionally, half of the women in a second or subsequent pregnancy had suffered IST symptoms during previous pregnancies, with no symptoms in between pregnancies. It is biologically plausible and may represent an exaggerated cardio-autonomic response to the physiological changes of pregnancy such as increased sympathetic tone and change in baroreceptor reflex sensitivity. Recognition of the condition is important given it is associated with significant morbidity, the distressing nature of symptoms leading to high rates of hospitalization and induction of labour. Funding Acknowledgement Type of funding source: None


Author(s):  
Kendrick Lee ◽  
Steven R. Laviolette ◽  
Daniel B. Hardy

Abstract Background Cannabis use in pregnancy leads to fetal growth restriction (FGR), but the long-term effects on cardiac function in the offspring are unknown, despite the fact that fetal growth deficits are associated with an increased risk of developing postnatal cardiovascular disease. We hypothesize that maternal exposure to Δ9-tetrahydrocannabinol (Δ9-THC) during pregnancy will impair fetal development, leading to cardiac dysfunction in the offspring. Methods Pregnant Wistar rats were randomly selected and administered 3 mg/kg of Δ9-THC or saline as a vehicle daily via intraperitoneal injection from gestational days 6 to 22, followed by echocardiogram analysis of cardiac function on offspring at postnatal days 1 and 21. Heart tissue was harvested from the offspring at 3 weeks for molecular analysis of cardiac remodelling. Results Exposure to Δ9-THC during pregnancy led to FGR with a significant decrease in heart-to-body weight ratios at birth. By 3 weeks, pups exhibited catch-up growth associated with significantly greater left ventricle anterior wall thickness with a decrease in cardiac output. Moreover, these Δ9-THC-exposed offsprings exhibited increased expression of collagen I and III, decreased matrix metallopeptidase-2 expression, and increased inactivation of glycogen synthase kinase-3β, all associated with cardiac remodelling. Conclusions Collectively, these data suggest that Δ9-THC-exposed FGR offspring undergo postnatal catch-up growth concomitant with cardiac remodelling and impaired cardiac function early in life. Impact To date, the long-term effects of perinatal Δ9-THC (the main psychoactive component) exposure on the cardiac function in the offspring remain unknown. We demonstrated, for the first time, that exposure to Δ9-THC alone during rat pregnancy results in significantly smaller hearts relative to body weight. These Δ9-THC-exposed offsprings exhibited postnatal catch-up growth concomitant with cardiac remodelling and impaired cardiac function. Given the increased popularity of cannabis use in pregnancy along with rising Δ9-THC concentrations, this study, for the first time, identifies the risk of perinatal Δ9-THC exposure on early postnatal cardiovascular health.


2020 ◽  
Vol 2020 (8) ◽  
Author(s):  
Gui-Jun Ding ◽  
Stephen F. King ◽  
Cai-Chang Li ◽  
Ye-Ling Zhou

Abstract We consider for the first time level 7 modular invariant flavour models where the lepton mixing originates from the breaking of modular symmetry and couplings responsible for lepton masses are modular forms. The latter are decomposed into irreducible multiplets of the finite modular group Γ7, which is isomorphic to PSL(2, Z7), the projective special linear group of two dimensional matrices over the finite Galois field of seven elements, containing 168 elements, sometimes written as PSL2(7) or Σ(168). At weight 2, there are 26 linearly independent modular forms, organised into a triplet, a septet and two octets of Γ7. A full list of modular forms up to weight 8 are provided. Assuming the absence of flavons, the simplest modular-invariant models based on Γ7 are constructed, in which neutrinos gain masses via either the Weinberg operator or the type-I seesaw mechanism, and their predictions compared to experiment.


2020 ◽  
Vol 115 (11) ◽  
pp. 399-408
Author(s):  
Catherine Maidment ◽  
Meekyung Ahn ◽  
Rafea Naffa ◽  
Trevor Loo ◽  
Gillian Norris

Looseness is a defect found in leather that reduces its quality by causing a wrinkly appearance in the finished product, resulting in a reduction in its value. Earlier studies on loose leather using microscopy and Raman spectroscopy reported a change in the collagen structure of loose leather. In this study, proteomics was used to investigate the possible molecular causes of looseness in the raw material, the first time such a study has been carried out. Proteins extracted from two regions of raw hide using two different methods were analysed; those taken from the distal axilla, an area prone to looseness, and those taken from the backbone which is less prone to looseness. Analyses using 1DE-LC-MS/MS showed that although the overall collagen concentration was similar in both areas of the hide, the distribution of the different types of collagen differed.  Specifically, concentrations of type I collagen, and the collagen-associated proteoglycan decorin were lower in samples taken from the distal axilla, symptomatic of a collagen network with excess space seen for these samples using confocal microscopy. This study suggests a possible link between the molecular components of raw cattle hide and looseness and more importantly between the molecular components of skin and skin defects. There is therefore potential to develop biomarkers for looseness which will enable early preventative action.


1970 ◽  
Vol 39 (1) ◽  
pp. 24-27
Author(s):  
Sabrina Q Rashid

This study was conducted to determine fetal biparietal diameter and abdominal circumference ratio in Bangladesh. There is still no table of this ratio in our country. A prospective, cross-sectional study was conducted on well dated, singleton fetuses of healthy pregnant women. One table and two graphs were prepared by fitting Polynomial regression model. Percentiles, mean and two standard deviations were derived of the ratio. Fetal charts of the raw data with superimposed fitted curves were constructed. The model showed a good fit to the data of 1223 subjects. It covered 95% of the population and gave 3rd, 10th, 50th, 90th and 97th percentiles. This chart can be useful for accurate assessment of fetal biparietal diameter and abdominal circumference ratio to determine the type of fetal growth abnormality, symmetrical or asymmetrical. This is the first time that this ratio has been studied in Bangladesh. Key words: Biparietal diameter; abdominal circumference. DOI: 10.3329/bmj.v39i1.6229 Bangladesh Medical Journal 2010; 39(1): 24-27


2013 ◽  
Vol 65 (3) ◽  
pp. 179-182 ◽  
Author(s):  
Salvatore Giovanni Vitale ◽  
Alessandro Tropea ◽  
Diego Rossetti ◽  
Marco Carnelli ◽  
Antonio Cianci

2012 ◽  
Vol 82 (5) ◽  
pp. 342-347 ◽  
Author(s):  
Ibrahim Elmadfa ◽  
Alexa L. Meyer

Vitamins are essential nutrients for many body functions and particularly important during growth. Adequate supply in pregnancy and in early infancy is therefore crucial, but there is still a lack of knowledge about the needed amounts of vitamins of children older than six months and also during pregnancy. Recommendations for intake levels are generally derived by extrapolation from data for infants based in turn on the contents in breast milk and those for adults. A vitamin of particular importance in pregnancy is folic acid due to its role in the development of the brain and nerve system and the prevention of fetal neural tube defects (NTD). Mandatory fortification of flour and certain other grain products in many countries has been associated with a reduction in NTD incidence. However, other deficiencies or suboptimal status of B vitamins, especially B6 and B12 have been repeatedly reported in pregnant women also in high-income countries. Vitamin A is one of the three most critical micronutrients globally and pregnant women and young children are especially vulnerable to deficiencies. Night blindness, anemia, and immunodeficiency are major consequences of inadequate supply in these populations. Much attention has recently been accorded vitamin D that is also critical in pregnant women and young children for instance because of its involvement in bone mineralization but also its more recently discovered immune-modulating function that is thought to prevent development of autoimmune diseases like diabetes mellitus type I. A healthy balanced diet provides the best basis for optimal pregnancy outcome, lactation performance, and complementary feeding. However, supplements or fortified foods may be needed to cover the high requirements especially of critical vitamins such as vitamin D and folic acid and to correct unfavorable dietary patterns in women or to adapt foods to the needs of young children.


2017 ◽  
Vol 7 (1) ◽  
pp. 36-38
Author(s):  
Ankit Jain ◽  
Nupur Kapoor Nerurkar ◽  
Binhi H Desai

ABSTRACT Pregnancy leading to hoarseness and stridor is not uncommon. It is usually a consequence of associated physiological changes and hence, reverts back to normalcy in postpartum. Pregnancy-induced stridor may rarely require a tracheostomy. Such a situation presents many challenges not only during the antenatal period but also during labor and the postpartum period. In this article, we have presented three cases of hoarseness during pregnancy and a discussion on their management with a review of literature. How to cite this article Nerurkar NK, Desai BH, Jain A. Mishaps of Larynx in Pregnancy. Int J Phonosurg Laryngol 2017;7(1):36-38.


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