Spurious Case of XX Maleness in A Patient With A History of Wiskott-Aldrich Syndrome

Nebesio, Todd D.; Torres-Martinez, Wilfredo; Rink, Richard C.; Eugster, Erica A.

doi:10.4158/ep10242.cr

Cited by 5 publications

(8 citation statements)

References 16 publications

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“…The treatment of inflammatory diseases including chronic inflammatory demyelinating polyneuropathy (CIDP) and autonomic neuropathy has had a significant boost by the use of immunoglobulin, and biological agents that modulate the activity of TNF-a, IL-1, and IL-6 (Pittenger et al, 1997; Vinik et al, 2006b; Anandacoomaraswamy et al, 2008; Bourcier and Vinik, 2010; Handelsman et al, 2011). These agents have been shown to ameliorate rheumatoid arthritis and inflammatory bowel disease, which is what serendipitously directed us to the use of an anti-TNFα in diabetic neuropathies.…”

Section: Treatment Of Autonomic Dysfunctionmentioning

confidence: 99%

The Conductor of the Autonomic Orchestra

Vinik¹

2012

Front. Endocrin.

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Bad bedfellows – autonomic dysfunction, inflammation, and diabetes! Are they related? How? Evidence suggests the activation of inflammatory cytokines like IL-6 and TNFα in newly diagnosed type 2 diabetes and that the inflammatory change correlates with abnormalities in sympathovagal balance. Dysfunction of the autonomic system predicts cardiovascular risk and sudden death in patients with type 2 diabetes. It occurs in prediabetes, providing opportunities for early intervention. The importance of recognizing autonomic dysfunction as a predictor of morbidity and mortality with intensification of treatment suggests that all patients with type 2 diabetes at onset, and those with type 1 diabetes after 5 years should be screened for autonomic imbalance. These tests can be performed at the bedside with real time output of information – within the scope of the practicing physician – facilitates diagnosis and allows 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. After all, how difficult is it to ask patients “do you have numb feet?” and to determine their heart rate variability – it could be lifesaving. Ultimately methods to reset the hypothalamus and the inflammatory cascade are needed if we are to impact the care of patients with this compendium of conditions.

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Section: Treatment Of Autonomic Dysfunctionmentioning

confidence: 99%

The Conductor of the Autonomic Orchestra

Vinik¹

2012

Front. Endocrin.

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“…[1,20,21] Less intensive glycaemic targets (e.g. HbA 1c <8.0%) are recommended in older adults with limited life expectancy, advanced diabetes complications and/or cardiovascular disease.…”

Section: Managing Hyperglycaemia and Hyperlipidaemia In The Elderlymentioning

confidence: 99%

“…[1,20,21,28] Slight variation exists among targets advocated by the ADA, NCEP, AACE and IDF for patients with type 2 diabetes,[1,20,21] and those recommended by the ADA/American College of Cardiology Foundation (ACCF) for patients at cardiometabolic risk. [28] Treatment guidelines often do not provide separate recommendations for elderly patients; however, treatment in elderly patients should be individualized on the basis of physiological/functional age.…”

Section: Managing Hyperglycaemia and Hyperlipidaemia In The Elderlymentioning

confidence: 99%

“…The American Diabetes Association (ADA), the National Cholesterol Education Program (NCEP), the American Association of Clinical Endocrinologists (AACE) and the International Diabetes Federation (IDF) lipid targets in patients with type 2 diabetes mellitus, and the ADA/American College of Cardiology Foundation (ACCF) lipid and lipoprotein targets in patients at cardiometabolic risk[1,20,21,28,29]…”

Section: Managing Hyperglycaemia and Hyperlipidaemia In The Elderlymentioning

confidence: 99%

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Glucose and Low-Density Lipoprotein Cholesterol Lowering in Elderly Patients with Type 2 Diabetes

Marrs

2012

Drugs & Aging

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The prevalence of type 2 diabetes mellitus is high among the elderly population. Treatment of elderly patients with type 2 diabetes presents challenges because of co-morbidities and the potential increase in the risk of adverse effects. Hyperlipidaemia is also common in the elderly population. Glucose-and lipid-lowering treatment in elderly patients should be individualized on the basis of the patient’s life expectancy, health status and cardiovascular risk factors, and evidence-based guideline recommendations. Because elderly patients often have impaired renal and hepatic function, careful considerations must be made when selecting appropriate glucose- and lipid-lowering therapy. There are a number of potential safety issues associated with various glucose- and lipid-lowering therapies that are relevant to elderly patients, including increased risk of heart failure exacerbations, weight loss, increased risk of hypoglycaemia, increased risk of myopathy, and contraindications of some agents in patients with hepatic or renal impairment. The bile acid sequestrant colesevelam HCl is unique compared with other glucose- and lipid-lowering therapies because it is the only product approved by the US Food and Drug Administration, as an adjunct to diet and exercise, to lower both glucose and low-density lipoprotein cholesterol (LDL-C) in adults with type 2 diabetes and primary hyperlipidaemia, respectively. Furthermore, colesevelam has been shown to have similar glucose- and lipid-lowering efficacy in patients aged <65 years and those aged ≥65 years. Colesevelam was not associated with weight gain, was associated with a low incidence of hypoglycaemia, and can be safely combined with a broad range of glucose-lowering agents (metformin, sulfonylureas and insulin) and lipid-lowering statins. Currently, colesevelam is available in tablet form and as a powder for oral suspension formulation; the latter may be of benefit to elderly patients with swallowing difficulties. As colesevelam has both glucose- and lipid-lowering effects, its use may reduce the drug burden in elderly patients receiving multiple agents for glucose and lipid lowering. Colesevelam may be a valuable treatment option as an add-on to existing glucose- and/or lipid-lowering therapy to help improve haemoglobin A1c and to lower LDL-C levels in elderly patients with type 2 diabetes and primary hyperlipidaemia.

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“…XX human males, although very rare, show a large spectrum of clinical manifestations, ranging from ambiguous genitalia in the newborn to normal male phenotype. The syndrome has been shown to be due to a translocation of the SRY gene from the Y chromosome to the X chromosome in about 80% of XX sex reversal cases [Pepene et al, 2008;Nebesio et al, 2011]. Likely, a crucial role in this syndrome is related to the physical position of SRY in the Y chromosome.…”

Section: Sex Reversal Syndromementioning

confidence: 99%

Disorders of Sexual Development and Abnormal Early Development in Domestic Food-Producing Mammals: The Role of Chromosome Abnormalities, Environment and Stress Factors

Favetta

Villagómez

Iannuzzi

et al. 2011

Sex Dev

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The management of disorders of sexual development (DSD) in humans and domestic animals has been the subject of intense interest for decades. The association between abnormal chromosome constitutions and DSDs in domestic animals has been recorded since the beginnings of conventional cytogenetic analysis. Deviated karyotypes consisting of abnormal sex chromosome sets and/or the coexistence of cells with different sex chromosome constitutions in an individual seem to be the main causes of anomalies of sex determination and sex differentiation. In recent years, a growing interest has developed around the environmental insults, such as endocrine-disrupting compounds (EDC) and heat stressors, which affect fertility, early embryonic development and, in some instances, directly the sex ratio and/or the development of 1 specific sex versus the other. A variety of chemical compounds present in the environment at low doses has been shown to have major effects on the reproductive functions in human and domestic animals following prolonged exposure. In this review, we present an overview of congenital/chromosomal factors that are responsible for the DSDs and link them and the lack of proper embryonic development to environmental factors that are becoming a major global concern.

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Spurious Case of XX Maleness in A Patient With A History of Wiskott-Aldrich Syndrome

Cited by 5 publications

References 16 publications

The Conductor of the Autonomic Orchestra

The Conductor of the Autonomic Orchestra

Glucose and Low-Density Lipoprotein Cholesterol Lowering in Elderly Patients with Type 2 Diabetes

Disorders of Sexual Development and Abnormal Early Development in Domestic Food-Producing Mammals: The Role of Chromosome Abnormalities, Environment and Stress Factors

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