scholarly journals Unusual first presentation of a metabolic disorder

2019 ◽  
Vol 12 (3) ◽  
pp. e226716 ◽  
Author(s):  
Claire Emma Strauss ◽  
Gayle Hann
Keyword(s):  
Broad Spectrum ◽  
Metabolic Disorder ◽  
Major Part ◽  
Abdominal Ultrasound ◽  
Alpha Fetoprotein ◽  
Unusual Presentation ◽  
Post Discharge ◽  
Blood Tests ◽  
Metabolic Condition

An 8-month-old boy presented to hospital with a fever, irritability and ‘back arching’. On examination, he demonstrated profound opisthotonic posturing and had tonsillitis. He had a full septic screen and was treated with broad spectrum antibiotics. Blood tests showed a transaminitis, raised alpha fetoprotein and deranged clotting. The clotting abnormalities and raised alpha fetoprotein persisted post discharge and an abdominal ultrasound showed steatosis, splenomegaly and bilateral increased renal cortical reflectivity. A full metabolic screen revealed type 1 tyrosinaemia. The opisthotonic posturing, a major part of this child’s presentation, has not been reported as a presenting feature of tyrosinaemia. It was part of a ‘neurological crisis’ caused by tyrosinaemia and exacerbated by the intercurrent infection. These are known to occur in tyrosinaemia but not commonly as the first presentation. This represents an unusual presentation of a metabolic condition which, without intervention, can lead to severe hepatic, renal and neurodevelopmental complications.

Gastric antral vascular ectasia in children, rare presentation

2020 ◽  
Vol 13 (11) ◽  
pp. e236896
Author(s):  
Matthew Pizzuto ◽  
Sarah Ellul ◽  
Mohamed Shoukry
Keyword(s):  
Gastrointestinal Endoscopy ◽  
Abdominal Ultrasound ◽  
Clinical Findings ◽  
Evidence Based ◽  
Gastric Antral Vascular Ectasia ◽  
Perianal Area ◽  
Rare Presentation ◽  
Vascular Ectasia ◽  
Blood Tests ◽  
Abdominal Examination

A 14-year-old boy, a known case of perinatal hypoxic cerebral palsy, presented to paediatric emergency with acute melaena and blood staining around feeding gastrostomy site. Physical examination revealed pallor, but no signs of distress with an unremarkable abdominal examination. Routine blood tests revealed normochromic. Abdominal ultrasound scan and Meckel’s scan were unremarkable. The patient underwent examination under anaesthesia of the perianal area and joint upper and lower gastrointestinal endoscopy. Streak-like gastritis with no signs of active bleeding lesions were noted and patchy areas of colitis involving the descending and sigmoid colon and the rectum. All clinical findings and evidence-based diagnosis matched gastric antral vascular ectasia. He was successfully managed conservatively with elemental hydrolysed feeding formula.

scholarly journals THE EFFECT OF CHRONIC HYPERGLYCEMIA ON THE STATE OF MUSCULOSKELETAL SYSTEM (LITERATURE REVIEW)

2021 ◽  
Vol 21 (1) ◽  
pp. 184-187
Author(s):  
A.O. Ponyrko
Keyword(s):  
Diabetes Mellitus ◽  
Type 1 Diabetes ◽  
Bone Tissue ◽  
Musculoskeletal System ◽  
Metabolic Disorder ◽  
Skeletal System ◽  
Complex Disorders ◽  
Chronic Hyperglycemia ◽  
Wide Range

Diabetes mellitus is a metabolic disorder that today has become a threatening problem for human health. Its prevalence has been constantly increasing throughout the world over the past decades. Diabetes mellitus is regarded as an incurable metabolic disorder characterized by hyperglycemia, which is caused by defects in insulin secretion. This disease annually affects almost 3% of the total population of the planet. Chronic hyperglycemia causes dysfunction of various organs of the body, such as the eyes, kidneys, heart, blood vessels, and nerves. The most common complications of diabetes include lesions of the vessels of the eye, kidneys, lower limbs and nervous system. A high level of glucose in the blood causes the development of a wide range of pathological disorders, which affect bones as well. Recent studies have shown that diseases of the skeletal system are often observed in diabetes mellitus. Speaking about the effect of hyperglycemia on bones, the development of osteopenia and osteoporosis should be noted. In this regard, an important area of research is to study changes in the bone tissue in patients with type 1 diabetes mellitus and the mechanisms that lead to disruption of bone structure and metabolism. The article highlights the pathophysiological mechanisms of hyperglycemia action in type 1 diabetes that explains complex disorders of the organs of the musculoskeletal system. The detrimental effect of hyperglycemia results in marked degenerative changes in bone cells. The pathogenic effect of hyperglycemia on bone tissue is manifested in a decrease in bone mineral density that is due to the lack of insulin and, as a consequence, significant metabolic disorders, a decrease in bone mass, inhibition of bone tissue formation, a significant decrease in the trace element composition of bone. The combination of these factors creates the appropriate pathomorphological basis for the development of diabetic osteopathy. The article highlights the mechanism of action of hyperglycemia on skeletal system in order to stimulate to a more detailed investigation of diabetes mellitus in experimental animals.

Cardiac troponins and mortality in type 1 and 2 myocardial infarction

2017 ◽  
Vol 55 (2) ◽  
Author(s):  
Giuseppe Lippi ◽  
Fabian Sanchis-Gomar ◽  
Gianfranco Cervellin
Keyword(s):  
Myocardial Infarction ◽  
Cardiac Troponin ◽  
Troponin I ◽  
Troponin T ◽  
Post Discharge ◽  
Assay Sensitivity ◽  
Percentage Difference ◽  
Cardiac Troponins

AbstractBackground:The pathogenesis of different types of myocardial infarction (MI) differs widely, so that accurate and timely differential diagnosis is essential for tailoring treatments according to the underlying causal mechanisms. As the measurement of cardiac troponins is a mainstay for diagnosis and management of MI, we performed a systematic literature analysis of published works which concomitantly measured cardiac troponins in type 1 and 2 MI.Methods:The electronic search was conducted in Medline, Scopus and Web of Science using the keywords “myocardial infarction” AND “type(-)2” OR “type II” AND “troponin” in “Title/Abstract/Keywords”, with no language restriction and date limited from 2007 to the present.Results:Overall, 103 documents were identified, but 95 were excluded as precise comparison of troponin values in patients with type 1 and 2 MI was unavailable. Therefore, eight studies were finally selected for our analysis. Two studies used high-sensitivity (HS) immunoassays for measuring cardiac troponin T (HS-TnT), one used a HS immunoassay for measuring cardiac troponin I (HS-TnI), whereas the remaining used conventional methods for measuring TnI. In all studies, regardless of type and assay sensitivity, troponin values were higher in type 1 than in type 2 MI. The weighted percentage difference between type 1 and 2 MI was 32% for TnT and 91% for TnI, respectively. Post-discharge mortality obtained from pooling individual data was instead three times higher in type 2 than in type 1 MI.Conclusions:The results of our analysis suggest that the value of cardiac troponins is consistently higher in type 1 than in type 2 MI.

An unusual presentation of primary adrenal insufficiency with new onset type 1 diabetes: case report and review of the literature

2021 ◽  
Vol 0 (0) ◽  
Author(s):  
Shelby Graf ◽  
Rachel Stork Poeppelman ◽  
Jennifer McVean ◽  
Arpana Rayannavar ◽  
Muna Sunni
Keyword(s):  
Type 1 Diabetes ◽  
Adrenal Insufficiency ◽  
Diabetic Ketoacidosis ◽  
Serum Cortisol ◽  
Unusual Presentation ◽  
Primary Adrenal Insufficiency ◽  
Onset Type ◽  
Autoimmune Conditions ◽  
New Onset

Abstract Objectives To describe an atypical presentation of primary adrenal insufficiency in conjunction with new onset type 1 diabetes. Case presentation Here, we describe a case of new-onset type 1 diabetes (T1D) presenting simultaneously with an unusual presentation of primary adrenal insufficiency in a previously healthy 16-year-old. He was admitted for a typical presentation of diabetic ketoacidosis, but with extreme hyponatremia. An extensive workup revealed a low aldosterone level, appropriate cortisol level, and positive 21-hydroxylase antibodies. While the phenomenon of multiple autoimmune conditions developing in the same patient is well-described, this particular case has several atypical aspects. Our patient’s case highlights the danger of relying on random serum cortisol in the setting of acute illness to rule out adrenal insufficiency. Conclusions Adrenal insufficiency can present as isolated hypoaldosteronism without hypocortisolemia and can manifest as severe hyponatremia in the context of diabetic ketoacidosis. Workup for an unusual presentation of T1D should include a 21-hydroxylase antibody, as well as thyroid and celiac disease studies.

scholarly journals Betulinic Acid Derivatives That Target gp120 and Inhibit Multiple Genetic Subtypes of Human Immunodeficiency Virus Type 1

2007 ◽  
Vol 52 (1) ◽  
pp. 128-136 ◽  
Author(s):  
Weihong Lai ◽  
Li Huang ◽  
Phong Ho ◽  
Zhijun Li ◽  
David Montefiori ◽  
...  
Keyword(s):  
Human Immunodeficiency Virus ◽  
Human Immunodeficiency Virus Type ◽  
Broad Spectrum ◽  
Betulinic Acid ◽  
V3 Loop ◽  
Entry Inhibitors ◽  
Immunodeficiency Virus ◽  
Anti Hiv ◽  
Hiv 1

ABSTRACT Betulinic acid (BA) derivatives can inhibit human immunodeficiency virus type 1 (HIV-1) entry or maturation depending on side chain modifications. While BA derivatives with antimaturation activity have attracted considerable interest, the anti-HIV-1 profile and molecular mechanism of BA derivatives with anti-HIV-1 entry activity (termed BA entry inhibitors) have not been well defined. In this study, we have found that two BA entry inhibitors, IC9564 and A43D, exhibited a broad spectrum of anti-HIV-1 activity. Both compounds inhibited multiple strains of HIV-1 from clades A, B, and C at submicromolar concentrations. Clade C viruses were more sensitive to the compounds than clade A and B viruses. Interestingly, IC9564 at subinhibitory concentrations could alter the antifusion activities of other entry inhibitors. IC9564 was especially potent in increasing the sensitivity of HIV-1YU2 Env-mediated membrane fusion to the CCR5 inhibitor TAK-779. Results from this study suggest that the V3 loop of gp120 is a critical determinant for the anti-HIV-1 activity of IC9564. IC9564 escape viruses contained mutations near the tip of the V3 loop. Moreover, IC9564 could compete with the binding of V3 monoclonal antibodies 447-52D and 39F. IC9564 also competed with the binding of gp120/CD4 complexes to chemokine receptors. In summary, these results suggest that BA entry inhibitors can potently inhibit a broad spectrum of primary HIV-1 isolates by targeting the V3 loop of gp120.

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