scholarly journals Genetics of Type 2 Diabetes: A Review

2019 ◽  
Vol 6 (1) ◽  
pp. 59-63 ◽  
Author(s):  
Md Fakruddin

Diabetes Mellitus (DM), one of the most non-communicable diseases, is increasing day by day in an alarming way. More than 140 million people are suffering from diabetes throughout the world. It is not a single disease entity, but rather a group of metabolic disorders sharing the common underlying feature of hyperglycemia. Hyperglycemia in diabetes results from defects in insulin secretion, insulin action, or, most commonly, both. The chronic hyperglycemia and attendant metabolic deregulation may be associated with secondary damage in multiple organ systems, especially the kidneys, eyes, nerves, and blood vessels. The pathophysiology of diabetes is not fully elucidated. Insulin secretory dysfunction and insulin resistance or both is main candidate for this metabolic disorder, moreover various genetic and environmental factors may also involve in this process. Racial variations play also an important role as evidenced by various studies. However, the interrelationships between the molecular and metabolic mechanisms in these parameters contributing this life threatening disease still remain a mystery to the scientists. Journal of Current and Advance Medical Research 2019;6(1):59-63

Author(s):  
Christian Muschitz ◽  
Anita Trummert ◽  
Theresa Berent ◽  
Norbert Laimer ◽  
Lukas Knoblich ◽  
...  

SummarySevere acute respiratory syndrome coronavirus type 2 (SARS-CoV-2), the etiological agent of coronavirus disease 2019 (COVID-19), produces protean manifestations and causes indiscriminate havoc in multiple organ systems. This rapid and vast production of proinflammatory cytokines contributes to a condition termed cytokine storm. A 35-year-old, otherwise healthy, employed, male patient was tested positive for COVID-19. He was admitted to the hospital on disease day 10 due to retarded verbal reactions and progressive delirium. On account of these conditions and the need for noninvasive/invasive ventilation, a combination treatment with baricitinib and remdesivir in conjunction with standard of care was initiated. The cytokine storm was rapidly blocked, leading to a vast pulmonary recovery with retarded recovery of the central nervous system. We conclude that the rapid blockade of the COVID-19-induced cytokine storm should be considered of avail as a principle of careful decision-making for effective recovery.


2021 ◽  
pp. 327-331
Author(s):  
Natasya Natasya ◽  
Fidel Ganis Siregar ◽  
Ratna Akbari Ganie

Preeclampsia is a pregnancy syndrome affecting multiple organ systems, characterized by hypertension and proteinuria after 20 weeks of gestation. The incidence of preeclampsia is estimated to be 3-10% of pregnancies worldwide and is the leading cause of death for pregnant women. Preeclampsia is a life-threatening obstetric emergency, so it needs prompt and precise treatment to prevent morbidity and mortality. WHO estimates that the incidence of preeclampsia is seven times higher in developing countries (2.8% of live births) than in developed countries 1,2 (0.4%).


2018 ◽  
Vol 2018 ◽  
pp. 1-3 ◽  
Author(s):  
Kaitlyn Vennard ◽  
Matthew P. Gilbert

Thyroid storm is a rare endocrine emergency characterized by dysfunction of multiple organ systems. Thyroid storm is more common in Graves’ disease and can be precipitated by surgery, trauma, infection, metabolic abnormalities, iodine load, and parturition. We present a diagnostically challenging case of thyroid storm precipitated by radioiodine therapy and accompanied by bradycardia, a rare but life-threatening complication related to treatment for hyperthyroidism.


2021 ◽  
Vol 5 (1) ◽  
pp. 6-13
Author(s):  
Charles E. Middleton IV ◽  
William Daley ◽  
Neha Varshney

The clinical features of corona virus disease 2019 (COVID-19) are variable, but the majority of patients experience mild flu-like symptoms. The cases of severe disease include complications such as progressive pneumonia, acute kidney injury, multi-organ failure, and even death. This paper explores the association between COVID-19 and its effect on multiple organ systems and how the subsequent treatment of this disease can itself lead to morbidity and mortality. We present a case which emphasizes the life threatening gastrointestinal complications associated with treatment of acute kidney injury (AKI) in a patient with COVID-19. We conclude that the patients whose treatment regimens utilize medical resins should be closely monitored for gastrointestinal complications so as to mitigate the known adverse effects associated with these drugs, such as colonic mucosal ulceration, perforation, or even death.


2010 ◽  
Vol 20 (S3) ◽  
pp. 113-119 ◽  
Author(s):  
David J. Goldberg ◽  
Kathryn Dodds ◽  
Jack Rychik

AbstractThe Fontan operation, originally described for the surgical management of tricuspid atresia, is now the final surgery in the strategy of staged palliation for a number of different forms of congenital cardiac disease with a functionally univentricular heart. Despite the improved technical outcomes of the Fontan operation, staged palliation does not recreate a normal physiology. Without a pumping chamber delivering blood to the lungs, the cardiovascular system is less efficient; cardiac output is generally diminished, and the systemic venous pressure is increased. As a result, patients with “Fontan physiology” may face a number of rare but potentially life-threatening complications including hepatic dysfunction, abnormalities of coagulation, protein-losing enteropathy, and plastic bronchitis. Despite the staged palliation resulting in remarkable survival, the possible complications for this group of patients are complex, involve multiple organ systems, and can be life threatening. Identifying the mechanisms associated with each of the rare complications, and developing strategies to treat them, requires the work of many people at many institutions. Continued collaboration between sub-specialists and between institutions will be required to optimise the care for this group of survivors with functionally univentricular hearts.


2019 ◽  
Vol 6 (6) ◽  
pp. 1906
Author(s):  
Mahesh Dave ◽  
Hazari Lal Saini ◽  
Ankit Gupta ◽  
Jitendra Singh Choudhary ◽  
Aniruddha Burli

Background: Diabetes mellitus is an endocrine disorder which involves multiple organ systems and leads to significant morbidity and mortality. Diabetes mellitus has been defined as “A metabolic syndrome characterized by chronic hyperglycemia and disturbance of carbohydrate, fat and protein metabolism associated with absolute or relative deficiency in insulin secretion and or insulin action”. Thyroid diseases are also a common endocrinopathy seen in the adult population. Thyroid hormones are intimately involved in cellular metabolism. The present work is a modest attempt to study the prevalence of thyroid disorders in patients with type 2 diabetes mellitus.Methods: The study was carried out in total 108 diabetic patients without known thyroid disorder admitted in various Medical wards of R.N.T. Medical college and attached group of hospitals, Udaipur. It was a cross Sectional study done over a period of 10 months. Results: In the present study, 13% of patients with type 2 diabetes mellitus had abnormal thyroid profile. Out of which the most common presentation was sub clinical hypothyroidism found in 9.25% followed by1.9% had overt hypothyroidism and 1.9% had sub clinical hyperthyroidism. In persons with abnormal thyroid profile 85.7% were females and 14.3% were males which was statistically significant.Conclusions: Prevalence of thyroid dysfunction is common among T2DM patients and is higher in females than in males. There is no significant correlation between thyroid dysfunction and age, diabetes control, family history, type of treatment and HbA1c level in diabetic patients.


2021 ◽  
Vol 15 (2) ◽  
pp. 98-102
Author(s):  
Suranjit Kumar Saha ◽  
MM Shahin Ul Islam ◽  
Nasir Uddin Ahmed ◽  
Prativa Saha

Hemophagocytic lymphohistiocytosis (HLH) is a life-threatening disorder that occurs in many underlying conditions in all age. This is characterized by unbridled activation of cytotoxic T lymphocytes, natural killer (NK) cells and macrophages resulting in raised cytokine level. Those cytokines and immune mediated injury occur in multiple organ systems. It may be primary and secondary. Primary HLH is familial, childhood presentation and associated with gene mutations. Secondary HLH is acquired, adulthood presentation that occurs in infections, malignancies inflammatory and autoimmune diseases etc. Clinical manifestations include fever, splenomegaly, lymphadenopathy, neurologic dysfunction, coagulopathy, features of sepsis etc. Laboratory investigation includes cytopenias, hypertriglyceridemia, hyperferritinemia, abnormal liver function, hemophagocytosis, and diminished NKcell activity. Treatment modalities include immunosuppressive, immunomodulatory agents, cytostatic drugs, T-cell antibodies, anticytokine agents and hematopoietic stem cell transplantation (HSCT). Besides those, aggressive supportive care combined with specific treatment of the precipitating factor can produce better outcome. With treatment more than 50% of children who undergo transplant survive, but adults have quite poor outcomes even with aggressive management. Faridpur Med. Coll. J. 2020;15(2): 98-102


2013 ◽  
Vol 2013 ◽  
pp. 1-6 ◽  
Author(s):  
Salih Samo ◽  
Muhammed Sherid ◽  
Husein Husein ◽  
Samian Sulaiman ◽  
Margaret Yungbluth ◽  
...  

Klippel-Trenaunay syndrome (KTS) is a rare congenital syndrome of vascular malformations and soft tissue and bone hypertrophy. Vascular malformations can affect multiple organ systems. Involvement of the gastrointestinal (GI) tract is uncommon in KTS, but it can be a source of life-threatening bleeding. We report a case of a 32-year-old male with a known diagnosis of KTS who presented with a life-threatening rectal bleeding and was treated with proctosigmoidectomy and massive blood products transfusion. He expired after a long hospitalization. We then review the literature on KTS and management of some of its complications.


2017 ◽  
Vol 6 (3) ◽  
pp. 114 ◽  
Author(s):  
Theodoros Christophides ◽  
Sarosh Khan ◽  
Mahmood Ahmad ◽  
Hossam Fayed ◽  
Richard Bogle ◽  
...  

Lightning strikes are a common and leading cause of morbidity and mortality. Multiple organ systems can be involved, though the effects of the electrical current on the cardiovascular system are one of the main modes leading to cardiorespiratory arrest in these patients. Cardiac effects of lightning strikes can be transient or persistent, and include benign or life-threatening arrhythmias, inappropriate therapies from cardiac implantable electronic devices, cardiac ischaemia, myocardial contusion, pericardial disease, aortic injury, as well as cardiomyopathy with associated ventricular failure. Prolonged resuscitation can lead to favourable outcomes especially in young and previously healthy victims.


2020 ◽  
Author(s):  
Irina V. Lebedeva ◽  
Michelle V. Wagner ◽  
Sunil Sahdeo ◽  
Yi-Fan Lu ◽  
Anuli Anyanwu-Ofili ◽  
...  

AbstractCongenital disorders of glycosylation (CDG) and deglycosylation (CDDG) are a collection of rare pediatric disorders with symptoms that range from mild to life threatening. They typically affect multiple organ systems and usually present with neurological abnormalities including hypotonia, cognitive impairment, and intractable seizures. Several genes have been implicated in the thirty-six types of CDG, but currently NGLY1 is the only known CDDG gene. A common biological mechanism among CDG types and in CDDG is endoplasmic reticulum (ER) stress. Here, we develop two isogenic human cellular models of CDG (PMM2, the most prevalent type of CDG, and DPAGT1) and of the only CDDG (NGLY1) in an effort to identify drugs that can alleviate ER stress. Systematic phenotyping identified elevated ER stress and autophagy levels among other cellular and morphological phenotypes in each of the cellular models. We screened a complex drug library for compounds able to correct aberrant morphological phenotypes in each of the models using an agnostic phenotypic cell painting assay based on >300 cellular features. The image-based screen identified multiple candidate compounds able to correct aberrant morphology, and we show a subset of these are able to correct cellular and molecular defects in each of the models. These results provide new directions for the treatment of rare diseases of glycosylation and deglycosylation and a framework for new drug screening paradigms for more common neurodegenerative diseases characterized by ER stress.Summary sentenceNovel drug screening modality identifies compounds that correct aberrant molecular phenotypes in precision cellular models of glycosylation defects.


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