scholarly journals Transient Hyperinsulinemic Hypoglycemia Linked to PAX6 Mutation

Medicina ◽  
2021 ◽  
Vol 57 (6) ◽  
pp. 582
Author(s):  
Jee-Min Kim ◽  
Seul-Ki Kim ◽  
Shin-Hee Kim ◽  
Won-Kyoung Cho ◽  
Kyoung-Soon Cho ◽  
...  
Keyword(s):  
Diabetes Mellitus ◽  
Case Report ◽  
Glucose Metabolism ◽  
Glucose Homeostasis ◽  
Hyperinsulinemic Hypoglycemia ◽  
Present Case Report ◽  
Insulin Regulation ◽  
Life Threatening ◽  
Pax6 Mutation

Prolonged hyperinsulinemic hypoglycemia in infancy can result in developmental sequelae. A mutation in the paired box-6 gene (PAX6) has been reported to cause disorders in oculogenesis and neurogenesis. A limited number of cases of diabetes mellitus in adults with a PAX6 mutation suggest that the gene also plays a role in glucose homeostasis. The present case report describes a boy with a PAX6 mutation, born with anophthalmia, who underwent hypoglycemic seizures starting at 5 months old, and showed a prediabetic condition at 60 months. This patient provides novel evidence that connects PAX6 to glucose homeostasis and highlights that life-threatening hypoglycemia or early onset glucose intolerance may be encountered. The role of PAX6 in glucose metabolism and insulin regulation should be further investigated.

scholarly journals Olfactory Dysfunction: A Complication of Diabetes or a Factor That Complicates Glucose Metabolism? A Narrative Review

2021 ◽  
Vol 10 (23) ◽  
pp. 5637
Author(s):  
Evanthia Gouveri ◽  
Nikolaos Papanas
Keyword(s):  
Diabetes Mellitus ◽  
Peripheral Neuropathy ◽  
Energy Balance ◽  
Glucose Metabolism ◽  
Microvascular Complications ◽  
Diabetic Complication ◽  
Olfactory Dysfunction ◽  
Narrative Review ◽  
Central Neuropathy

The present narrative review presents emerging data regarding the association between diabetes mellitus and olfactory dysfunction and discusses the role of olfactory dysfunction in glucose metabolism. We searched relevant published articles in PubMed and Google Scholar until October 2021. Main key words included “olfactory dysfunction”, “diabetes mellitus”, and “glucose metabolism”. Olfactory dysfunction has been associated with diabetes mellitus. Furthermore, it has been proposed to be a diabetic complication, given that it has been linked with microvascular complications, such as diabetic peripheral neuropathy. Interestingly, it has been suggested that olfactory dysfunction is a manifestation of central neuropathy in diabetes, a hypothesis based on the observation that diabetes, olfactory dysfunction, and cognitive decline often coexist. However, evidence is limited and inconsistent. More importantly, olfactory and endocrine systems are closely linked, and olfactory dysfunction plays a significant role in glucose metabolism and obesity. Indeed, food behaviour and energy balance are influenced by olfaction status.

scholarly journals Impact of a near-death experience and religious conversion on the mental health of a criminal: case report and literature review

2013 ◽  
Vol 35 (1) ◽  
pp. 81-84 ◽  
Author(s):  
Camilla C. Braghetta ◽  
Glícia P. Santana ◽  
Quirino Cordeiro ◽  
Sergio P. Rigonatti ◽  
Giancarlo Lucchetti
Keyword(s):  
Mental Health ◽  
Case Report ◽  
Religious Conversion ◽  
Positive Impact ◽  
Present Case Report ◽  
Death Experience ◽  
Psychological Events ◽  
Near Death Experiences ◽  
Near Death Experience

OBJECTIVE: Near-death experiences have been defined as profound psychological events that may occur to a person while close to death or in a situation of extreme physical or emotional distress. These experiences seem to have an important effect on the patients’ mental health and may occur in several situations despite their cultural and religious beliefs. CASE DESCRIPTION: The present case report describes the positive impact of a near-death experience (Greyson scale > 7) followed by religious conversion on the mental health of a former prisoner. COMMENTS: Investigation of the role of near-death experiences by the scientific community could shed light on the coping mechanisms and moral/ethical transformations that take place in these individuals.

scholarly journals Chronic Tubal Ectopic Pregnancy with Diagnostic Conundrum: A Case Report

2021 ◽  
Vol 6 (2) ◽  
pp. 192-194
Author(s):  
Vishal Sharma ◽  
Ravi Dutt Wadhwa
Keyword(s):  
Case Report ◽  
Ectopic Pregnancy ◽  
Gestational Age ◽  
First Trimester ◽  
Present Case Report ◽  
Tubal Ectopic Pregnancy ◽  
Threatening Condition ◽  
Life Threatening ◽  
First Trimester Of Pregnancy ◽  
Ectopic Pregnancies

Ectopic pregnancy is a life threatening condition and mostly ectopic pregnancies occurs in fallopian tube. The most common site of ectopic tubal pregnancy is ampulla. Ectopic pregnancy is a complication of pregnancy and usually easy to diagnose by ultrasonography during the first trimester of pregnancy. Due to limited healthcare resources in developing countries, women do not undergo for ultrasound examination during pregnancy which leads to late diagnosis. In most of cases women with ectopic pregnancy are asymptomatic, unless ruptured. The mean gestational age for clinical presentation of ectopic pregnancy is 7.2 weeks after the last normal menstrual period. In rural population, late presentations of ectopic pregnancies are more commonly seen because of lack of modern diagnostic ability. Present case report is a rare case of non-viable, unruptured, tubal ampullary chronic ectopic pregnancy of 12 weeks gestational age. Keywords: Ectopic pregnancy, Unruptured, gestational age, ultrasonography.

scholarly journals A promising therapy of tocilizumab and helmet CPAP to prevent intubation for COVID-19 induced severe ARDS: a case report

2020 ◽  
Vol 24 (6) ◽  
Author(s):  
Septian Adi Permana ◽  
Adhrie Sugiarto ◽  
Muhammad Husni Thamrin ◽  
Arifin . ◽  
Harsini .
Keyword(s):  
Diabetes Mellitus ◽  
Case Report ◽  
Laboratory Tests ◽  
Leukocyte Count ◽  
Cytokine Storm ◽  
Rt Pcr ◽  
Life Threatening ◽  
Cost Efficient ◽  
The Cost ◽  
Easy Operation

A 59 yrs old male with severe ARDS due to COVID-19 infection was in life threatening ‘cytokine storm’. He had also co-morbids including diabetes mellitus and hypertension. He had come from Grobogan, a red area for COVID-19. Clinical finding indicted systemic inflammatory response syndrome (SIRS) with dyspnea, tachycardia, and high fever. Laboratory tests showed raised leukocyte count, CRP, SGOT/SGPT, blood sugar, PCT, low PaO2/FiO2 ratio. RT PCR showed he was infected by COVID-19. Sputum culture showed Klebsiella infection and CXR showed bilateral pneumonia. Patient was treated with standard therapy and a combination of tocilizumab for cytokine-storm and helmet CPAP for severe ARDS. Helmet CPAP has become the first modality for COVID-19 ARDS in some countries but not in Indonesia. We chose helmet CPAP because of the cost efficient, comfortable, and easy operation compared to other modality. We chose tocilizumab because it uses a single dose. Although it is expensive, only one dose is enough and it is effective in blocking the cytokine storm. We found that helmet CPAP and tocilizumab combination in COVID-19 lead severe ARDS could be promising to prevent intubation for patients. Key words: Helmet CPAP; ARDS; COVID-19; Tocilizumab; Cytokine storm Citation: Permana SA, Sugiarto A, Thamrin MH, Arifin, Harsini. A promising therapy of tocilizumab and helmet CPAP to prevent intubation for COVID-19 induced severe ARDS: a case report. Anaesth. pain intensive care 2020;24(6):659-663; DOI: 10.35975/apic.v24i6.1409 Received - 17 September 2020, Reviewed – 01 October 2020, Accepted – 6 November 2020

Uncommon Association Between Diabetic Ketoacidosis, Thyrotoxicosis, Cutaneous Abscess and Acute Pericarditis in an Immunocompetent Patient: A Single Case Report and Literature Review

2020 ◽  
Vol 16 (6) ◽  
pp. 641-648
Author(s):  
Martinot Amelie ◽  
Demar Magalie ◽  
Thelusme Liliane ◽  
Bounoua Merzaka ◽  
Santa Florin ◽  
...  
Keyword(s):  
Diabetes Mellitus ◽  
Case Report ◽  
Diabetic Ketoacidosis ◽  
Metabolic Disorders ◽  
Single Case ◽  
Immunocompetent Patient ◽  
Acute Pericarditis ◽  
Single Case Report

Introduction : The typical factors precipitating diabetic ketoacidosis (DKA) include infections (30%), cessation of antidiabetic medication (20%), and a new diagnosis of diabetes (25%). The etiology remains unknown in 25% of cases. Less frequent causes cited in the literature include severe thyrotoxicosis and, infrequently, pericarditis. Few publications have described the role of human T lymphotropic virus type 1 (HTLV-1) in endocrine and metabolic disorders. Based on a clinical case associated with several endocrine and metabolic disorders, we suggest a potential role for HTLV-1, an endemic virus in the Amazonian area, and review the literature concerning the role of this virus in thyroiditis, pericarditis and diabetes mellitus. Case Report : A fifty-year-old Surinamese woman without any medical history was admitted for diabetic ketoacidosis. No specific anti-pancreatic autoimmunity was observed, and the C-peptide level was low, indicating atypical type-1 diabetes mellitus. DKA was associated with thyrotoxicosis in the context of thyroiditis and complicated by nonbacterial pericarditis and a Staphylococcus aureus subcutaneous abscess. The patient was infected with HTLV-1. Conclusion: To our knowledge, this uncommon association is described for the first time. Few studies have analyzed the implications of HTLV-1 infection in thyroiditis and diabetes mellitus. We did not find any reports describing the association of pericarditis with HTLV-1 infection. Additional studies are necessary to understand the role of HTLV-1 in endocrine and cardiac disorders.

Glycemic variability in patients with diabetes mellitus and different stages of diabetic nephropathy

2020 ◽  
Vol 24 (4) ◽  
pp. 46-54
Author(s):  
A. R. Volkova ◽  
V. S. Mozgunova ◽  
M. E. Chernaya ◽  
A. O. Sobenin ◽  
V. M. Lagoyko ◽  
...  
Keyword(s):  
Diabetes Mellitus ◽  
Diabetic Nephropathy ◽  
Glucose Homeostasis ◽  
Energy Homeostasis ◽  
Microvascular Complications ◽  
Glycemic Variability ◽  
Advantages And Disadvantages ◽  
Glucose Reabsorption ◽  
Patients With Diabetes

The relevance of the study of glycemic variability in patients with diabetes mellitus and diabetic nephropathy is due to disability of the able-bodied population and high mortality against the background of the almost irreversible progression of diabetic nephropathy. The article highlights modern ideas about the influence of various factors on the occurrence of diabetic nephropathy and its course. The article is devoted to a review of current recommendations on diabetes mellitus and diabetic nephropathy; the etiopathogenesis of diabetic nephropathy was described in detail. The role of the kidneys in glucose homeostasis, renal gluconeogenesis, and glucose reabsorption by the kidneys in healthy and in pathology is described. Detailed expositions of glycemic variability parameters, their changes in patients with diabetes mellitus depending on the stage of diabetic kidney damage are presented. The role of the kidneys in maintaining energy homeostasis, impaired glucose homeostasis in conditions of chronic kidney disease is described. We analyzed different options for insulin therapy, their advantages, and disadvantages in patients with diabetes mellitus with diabetic nephropathy. The presented material is extremely relevant for the development and implementation in the clinical practice of glycemic control methods to optimize treatment tactics, prevent the formation of microvascular complications, and early disability of patients with diabetes mellitus.

scholarly journals BDKRB2+9/−9 Polymorphism Is Associated with Higher Risk for Diabetes Mellitus in the Brazilian General Population

2012 ◽  
Vol 2012 ◽  
pp. 1-4 ◽  
Author(s):  
Rafael de Oliveira Alvim ◽  
Paulo C. J. L. Santos ◽  
Raimundo M. Nascimento ◽  
George L. L. M. Coelho ◽  
José G. Mill ◽  
...  
Keyword(s):  
Diabetes Mellitus ◽  
General Population ◽  
Glucose Homeostasis ◽  
Transcriptional Activity ◽  
Study Data ◽  
Deletion Polymorphism ◽  
Metabolic Conditions ◽  
And Gender ◽  
Diabetes Mellitus Risk

Some mechanisms have been proposed to explain the role of bradykinin on glucose homeostasis and some studies reported that theBDKRB2+9/−9 polymorphism was associated to the transcriptional activity of the receptor. In this scenario, the main aim of this study was to evaluate the association of theBDKRB2+9/−9 polymorphism with diabetes mellitus risk in the Brazilian general population. This study included 1,032 subjects of the general urban population. Anthropometrical, blood pressure, biochemical, and genotype analyses for theBDKRB2+9/−9 bp insertion/deletion polymorphism were performed. Individuals carrying +9/+9 or +9/−9 genotypes had higher glucose values (84.5 mg/dL versus 80.6 mg/dL, resp.) and higher frequency of diabetes mellitus (7.6% versus 3.6%, resp.) compared to individuals carrying −9/−9, adjusting for age and gender. In addition, higher diabetes mellitus risk was associated to presence of the +9/+9 or +9/−9 genotypes (OR = 1.91; 95% CI = 1.09–4.19;P=0.03). Our data suggest that theBDKRB2+9/-9 polymorphism may act as a genetic modulator of glucose homeostasis. It was previously associated to insulin sensitivity, glucose uptake, and insulin secretion, and, in this study, data suggest that the polymorphism may increase susceptibility to chronic metabolic conditions such as diabetes in the Brazilian population.

scholarly journals Severe COVID-19 and long COVID in a 31-year-old woman with incontinentia pigmenti: A case report

2021 ◽  
Vol 9 ◽  
pp. 2050313X2110592
Author(s):  
Sylvie Rheault
Keyword(s):  
Case Report ◽  
Caucasian Woman ◽  
Incontinentia Pigmenti ◽  
Type I ◽  
Protective Measures ◽  
Present Case Report ◽  
Inflammatory Phase ◽  
Intravenous Antibiotics ◽  
Life Threatening ◽  
Evidence Based Guidelines

Incontinentia pigmenti is a rare genetic disease affecting the skin, microvasculature, and central nervous system, in which a hyperactive inflammatory response is observed. Due to the inflammatory phase of COVID-19 and associated cytokine storm, infection with SARS-CoV-2 in individuals with incontinentia pigmenti is a concern. Furthermore, type I interferon autoantibodies are found in life-threatening COVID-19 pneumonia and in 25% of individuals with incontinentia pigmenti. The present case report describes a 31-year-old Caucasian woman with incontinentia pigmenti and severe COVID-19. She was hospitalized for oxygen therapy, intravenous antibiotics, and corticosteroids. Eight months later, she is still symptomatic. To our knowledge, she is the first reported case of long COVID in incontinentia pigmenti. Increased autoimmunity may be implicated in both incontinentia pigmenti and long COVID. Pending evidence-based guidelines, COVID-protective measures including vaccination should be recommended to all patients with incontinentia pigmenti. Specific interferon therapy may be considered along with usual COVID treatment.

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