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

Interaction between Dietary Fat Intake and Metabolic Genetic Risk Score on 25-Hydroxyvitamin D Concentrations in a Turkish Adult Population

From MDPI via Jisc Publications RouterHistory: accepted 2022-01-14, pub-electronic 2022-01-17Publication status: PublishedFunder: Scientific and Technological Research Council of Turkey; Grant(s): 216S272Previous studies have pointed out a link between vitamin D status and metabolic traits, however, consistent evidence has not been provided yet. This cross-sectional study has used a nutrigenetic approach to investigate the interaction between metabolic-genetic risk score (GRS) and dietary intake on serum 25-hydroxyvitamin D [25(OH)D] concentrations in 396 unrelated Turkish adults, aged 24−50 years. Serum 25(OH)D concentration was significantly lower in those with a metabolic-GRS ≥ 1 risk allele than those with a metabolic-GRS 1 risk allele (p = 0.020). A significant interaction between metabolic-GRS and dietary fat intake (energy%) on serum 25(OH)D levels was identified (Pinteraction = 0.040). Participants carrying a metabolic-GRS ≥ 1 risk allele and consuming a high fat diet (≥38% of energy = 122.3 ± 52.51 g/day) had significantly lower serum 25(OH)D concentration (p = 0.006) in comparison to those consuming a low-fat diet (38% of energy = 82.5 ± 37.36 g/d). In conclusion, our study suggests a novel interaction between metabolic-GRS and dietary fat intake on serum 25(OH)D level, which emphasises that following the current dietary fat intake recommendation (35% total fat) could be important in reducing the prevalence of vitamin D deficiency in this Turkish population. Nevertheless, further larger studies are needed to verify this interaction, before implementing personalized dietary recommendations for the maintenance of optimal vitamin D status

Interaction between dietary fat intake and metabolic genetic risk score on 25-hydroxyvitamin D concentrations in a Turkish adult population

Previous studies have pointed out a link between vitamin D status and metabolic traits, however, consistent evidence has not been provided yet. This cross-sectional study has used a nutrigenetic approach to investigate the interaction between metabolic-genetic risk score (GRS) and dietary intake on serum 25-hydroxyvitamin D [25(OH)D] concentrations in 396 unrelated Turkish adults, aged 24–50 years. Serum 25(OH)D concentration was significantly lower in those with a metabolic-GRS ≥ 1 risk allele than those with a metabolic-GRS < 1 risk allele (p = 0.020). A significant interaction between metabolic-GRS and dietary fat intake (energy%) on serum 25(OH)D levels was identified (Pinteraction = 0.040). Participants carrying a metabolic-GRS ≥ 1 risk allele and consuming a high fat diet (≥38% of energy = 122.3 ± 52.51 g/day) had significantly lower serum 25(OH)D concentration (p = 0.006) in comparison to those consuming a low-fat diet (<38% of energy = 82.5 ± 37.36 g/d). In conclusion, our study suggests a novel interaction between metabolic-GRS and dietary fat intake on serum 25(OH)D level, which emphasises that following the current dietary fat intake recommendation (<35% total fat) could be important in reducing the prevalence of vitamin D deficiency in this Turkish population. Nevertheless, further larger studies are needed to verify this interaction, before implementing personalized dietary recommendations for the maintenance of optimal vitamin D status

FTO gene-lifestyle interactions on serum adiponectin concentrations and central obesity in a Turkish population

The aim of the study was to investigate whether lifestyle factors modify the association fat mass and obesity-associated (FTO) gene single nucleotide polymorphisms (SNPs) and obesity in a Turkish population. The study included 400 unrelated individuals, aged 24-50 years recruited in a hospital setting. Dietary intake and physical activity were assessed using 24-hour dietary recall and self-report questionnaire, respectively. A genetic risk score (GRS) was developed using FTO SNPs, rs9939609 and rs10163409. Body mass index and fat mass index were significantly associated with FTO SNP rs9939609 (P=0.001 and P=0.002, respectively) and GRS (P=0.002 and P=0.003, respectively). The interactions between SNP rs9939609 and physical activity on adiponectin concentrations, and SNP rs10163409 and dietary protein intake on increased waist circumference were statistically significant (Pinteraction=0.027 and Pinteraction=0.044, respectively). This study demonstrated that the association between FTO SNPs and central obesity might be modified by lifestyle factors in this Turkish population

Disease Of The Sultans: Metabolic Syndrome In Ottoman Dynasty

Metabolic syndrome is generally considered as a complication of modernity. Here we searched for the presence of metabolic syndrome components among the Ottoman emperors who lived between 1258 and 1926. Collections of historical archives, which were published as books specifically about morbidity and mortality of Ottoman emperors were reviewed to diagnose metabolic syndrome according to modified criteria by American College of Endocrinology and American Association of Clinical Endocrinologists. Nineteen of 36 dynasty members (53%) had fatal or non-fatal cardiovascular events. Twenty-nine of the dynasty (81%) members were either depicted as truncal obese or reported to have obesity. Thirteen emperors (36%) satisfied diagnostic criteria for metabolic syndrome, retrospectively. Overall, 42% of non-commanding emperors, but 26% of commanding-emperors (who were assumed to be athletically grown and physically more active) were found to have metabolic syndrome (p=0.553). We suggest firstly here that sedentary palace lifestyle exacerbated metabolic syndrome in Ottoman dynasty especially in elderly members, thereafter complicated by cardiovascular events, even in pre-modern era. (Anadolu Kardiyol Derg 2010; 10:270-3)WoSScopu

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

Diabetic Cardiac Autonomic Neuropathy, Inflammation And Cardiovascular Disease

One of the most overlooked of all serious complications of diabetes is cardiovascular autonomic neuropathy. There is now clear evidence that suggests activation of inflammatory cytokines in diabetic patients and that these correlate with abnormalities in sympathovagal balance. Dysfunction of the autonomic system predicts cardiovascular risk and sudden death in patients with type 2 diabetes. It also occurs in prediabetes, providing opportunities for early intervention. Simple tests that can be carried out at the bedside with real-time output of information within the scope of the practicing physician facilitate diagnosis and allow the application of sound strategies for management. The window of opportunity for aggressive control of all the traditional risk factors for cardiovascular events or sudden death with intensification of therapy is with short duration diabetes, the absence of cardiovascular disease and a history of severe hypoglycemic events. To this list we can now add autonomic dysfunction and neuropathy, which have become the most powerful predictors of risk for mortality. It seems prudent that practitioners should be encouraged to become familiar with this information and apply risk stratification in clinical practice. Several agents have become available for the correction of functional defects in the autonomic nervous system, and restoration of autonomic balance is now possible.Wo