Hypotension, Syncope, and Fever in Systemic Mastocytosis without Skin Infiltration and Rapid Response to Corticosteroid and Cyclosporin: A Case Report

Mast cell disorders are defined by an abnormal accumulation of tissue mast cells in one or more organ systems. In systemic mastocytosis, at least one extracutaneous organ is involved by definition. Although, systemic mastocytosis usually represents with skin lesion called urticaria pigmentosa, in a small proportion, there is extracutaneous involvement without skin infiltration. Other manifestations are flushing, tachycardia, dyspepsia, diarrhea, hypotension, syncope, and rarely fever. Various medications have been used but there is not a definite cure for systemic mastocytosis. The principles of treatment include control of symptoms with measures aimed to decrease mast cell activation. We describe a case of systemic mastocytosis presenting with hypotension, syncope attacks, fever, and local flushing. In bone marrow biopsy, increased mast cell infiltration was demonstrated. She had no skin infiltration. A good clinicopathological response was obtained acutely with combination therapy of glucocorticoid and cyclosporine

Pituitary hypoplasia and growth hormone deficiency in a woman with glycogen storage disease type Ia: a case report

<p>Abstract</p> <p>Introduction</p> <p>Growth retardation is one of the cardinal manifestations of glycogen storage disease type Ia. It is unclear which component of the growth hormone and/or insulin-like growth factor axis is primarily disrupted, and management of growth impairment in these patients remains controversial. Here we report the first case in the literature where glycogen storage disease type Ia is associated with pituitary hypoplasia and growth hormone deficiency.</p> <p>Case presentation</p> <p>A 20-year-old woman with glycogen storage disease type Ia was admitted to our endocrinology department because of growth retardation. Basal and overnight growth hormone sampling at 2-hour intervals demonstrated low levels; however, provocative testing revealed a relatively normal growth hormone response. A hypoplastic anterior pituitary with preserved growth hormone response to provocative testing suggested the possibility of growth hormone neurosecretory dysfunction and/or primary pituitary involvement.</p> <p>Conclusion</p> <p>Pituitary hypoplasia may result from growth hormone-releasing hormone deficiency, a condition generally known as growth hormone neurosecretory dysfunction. It is an abnormality with a spontaneous and pulsatile secretion pattern, characterized by short stature, growth retardation and normal serum growth hormone response to provocative testing. However, in the case described in this report, a normal although relatively low growth hormone response during insulin tolerance testing and pituitary hypoplasia suggested that primary pituitary involvement or growth hormone neurosecretory dysfunction may occur in glycogen storage disease type Ia. This is a potential cause of growth failure associated with a lower somatotroph mass, and may explain the variable responsiveness to growth hormone replacement therapy in people with glycogen storage disease.</p

Global Confusion On The Diagnostic Criteria For Metabolic Syndrome: What Is The Point That Guidelines Can Not Agree?

Several international and national associations have proposed their own diagnostic criteria for metabolic syndrome. Regarding the heterogeneity of these guidelines, some authors refused the usage of metabolic syndrome definition. Here we aimed to analyze the differences between the diagnostic criteria proposed for metabolic syndrome. We reviewed and compared these different guidelines' criteria. We conclude that, despite the heterogeneity, there is a conceptual agreement on the definition of metabolic syndrome. But cut-off values and selection of diagnostic parameters are still conflicting. Diagnostic or definitive components of the syndrome (i.e., obesity, insulin resistance) should be considered separately from the associated-conditions (i.e., polycystic ovary, obstructive sleep apnea, microalbuminuria, non-alcoholic steatohepatitis etc.) of metabolic syndrome, during the course of diagnosis. Maintenance of the metabolic syndrome as a diagnostic category would still seem to be useful for an effective multiple cardiovascular risk prediction.Wo

Turkish Insulin Injection Techniques Study: Complications of Injecting Insulin Among Turkish Patients with Diabetes, Education They Received, and the Role of Health Care Professional as Assessed by Survey Questionnaire

Using the Turkish and rest of world (ROW) Injection Technique Questionnaire (ITQ) data we address key insulin injection complications. Summarized in first ITQ paper. Nearly one-third of Turkish insulin users described lesions consistent with lipohypertrophy (LH) at their injection sites and 27.4% were found to have LH by the examining nurse (using visual inspection and palpation). LH lesions in the abdomen and thigh of Turkish patients are slightly smaller than those measured in ROW but more than half of Turkish patients who have LH continue to inject into them at least daily. More than a quarter of Turkish patients have frequent unexplained hypoglycemia and nearly 2 out of 5 have glycemic variability, both of which have been linked to the presence of LH and the habit of injecting into it. Nearly half of Turkish injectors report having pain on injection. Of these, just over half report having painful injections only several times a month or year (i.e., not with every injection). In Turkey the diabetes nurse has by far the major role in teaching patients how to inject. Nearly 40% of Turkish injectors get their sites checked at least annually, and a larger proportion than ROW had received recent (within the last 12 months) instruction on how to inject properly. Turkish patients and professionals have clearly made progress in injection technique, but there are still considerable challenges ahead which the new Turkish guidelines will help address. BD Diabetes Care