Diagnosis of 'possible' mitochondrial disease: an existential crisis.
clinical genetics; diagnosis; evidence based practice; metabolic disorders
Primary genetic mitochondrial diseases are often difficult to diagnose, and the term 'possible' mitochondrial disease is used frequently by clinicians when such a diagnosis is suspected. There are now many known phenocopies of mitochondrial disease. Advances in genomic testing have shown that some patients with a clinical phenotype and biochemical abnormalities suggesting mitochondrial disease may have other genetic disorders. In instances when a genetic diagnosis cannot be confirmed, a diagnosis of 'possible' mitochondrial disease may result in harm to patients and their families, creating anxiety, delaying appropriate diagnosis and leading to inappropriate management or care. A categorisation of 'diagnosis uncertain', together with a specific description of the metabolic or genetic abnormalities identified, is preferred when a mitochondrial disease cannot be genetically confirmed.
Parikh Sumit; Karaa Amel; Goldstein Amy; Bertini Enrico Silvio; Chinnery Patrick F; Christodoulou John; Cohen Bruce H; Davis Ryan L; Falk Marni J; Fratter Carl; Horvath Rita; Koenig Mary Kay; Mancuso Michaelangelo; McCormack Shana; McCormick Elizabeth M; McFarland Robert; Nesbitt Victoria; Schiff Manuel; Steele Hannah; Stockler Silvia; Sue Carolyn; Tarnopolsky Mark; Thorburn David R; Vockley Jerry; Rahman Shamima
Journal of medical genetics
2019
2019-03
<a href="http://doi.org/10.1136/jmedgenet-2018-105800" target="_blank" rel="noreferrer noopener">10.1136/jmedgenet-2018-105800</a>
Identification of Obesity: Waistlines or Weight?
MEDICAL research; GLUCOSE; LIPIDS; METABOLIC disorders; OBESITY
Background. Obesity can be divided into "general" and "central." Since abnormal glucose and lipid metabolism are more strongly associated with central obesity, it may not be adequate to use a general measure, such as weight-for-height index, to assess for obesity. An index of central obesity, such as the waist-to-hip ratio, might be more appropriate. Methods. Nurses measured height and weight for the body mass index (BMI = kilograms of mass divided by the square of the height in meters) and girths for the waist to hip ratio (WHR) in 414 patients aged 45 years and over. Patients completed an obesity-related questionnaire. Results. Fifty-seven percent of patient of had an elevated BMI. Fifty percent of men (95% confidence interval [CI] 46 to 55) and 78% of women (95% CI, 75 to 80) had central obesity based on elevated WHRs. Using an elevated WHR as the standard for central obesity, elevated BMI had a positive predictive value of only 64% and a negative predictive value of 68% in men. For women, the corresponding positive and negative predictive values were 84% and 31%, respectively. Conclusion. The data indicate that the practice of using only scales to identify "overweight" patients should be reevaluated since doing so will miss patients at risk. In primary care patients, particularly those 50 years of age and over, weight-for-height indices such as the BMI result in underdiagnosis of central obesity. [ABSTRACT FROM AUTHOR]
Logue Everett; Smucker William D; Bourguet Claire C
Journal of Family Practice
1995
1995-10
Article information provided for research and reference use only. All rights are retained by the journal listed under publisher and/or the creator(s).
Diagnosis of 'possible' mitochondrial disease: an existential crisis.
clinical genetics; diagnosis; evidence based practice; metabolic disorders
Primary genetic mitochondrial diseases are often difficult to diagnose, and the term 'possible' mitochondrial disease is used frequently by clinicians when such a diagnosis is suspected. There are now many known phenocopies of mitochondrial disease. Advances in genomic testing have shown that some patients with a clinical phenotype and biochemical abnormalities suggesting mitochondrial disease may have other genetic disorders. In instances when a genetic diagnosis cannot be confirmed, a diagnosis of 'possible' mitochondrial disease may result in harm to patients and their families, creating anxiety, delaying appropriate diagnosis and leading to inappropriate management or care. A categorisation of 'diagnosis uncertain', together with a specific description of the metabolic or genetic abnormalities identified, is preferred when a mitochondrial disease cannot be genetically confirmed.
Parikh Sumit; Karaa Amel; Goldstein Amy; Bertini Enrico Silvio; Chinnery Patrick F; Christodoulou John; Cohen Bruce H; Davis Ryan L; Falk Marni J; Fratter Carl; Horvath Rita; Koenig Mary Kay; Mancuso Michaelangelo; McCormack Shana; McCormick Elizabeth M; McFarland Robert; Nesbitt Victoria; Schiff Manuel; Steele Hannah; Stockler Silvia; Sue Carolyn; Tarnopolsky Mark; Thorburn David R; Vockley Jerry; Rahman Shamima
Journal of medical genetics
2019
2019-03
Article information provided for research and reference use only. All rights are retained by the journal listed under publisher and/or the creator(s).
<a href="http://doi.org/10.1136/jmedgenet-2018-105800" target="_blank" rel="noreferrer noopener">10.1136/jmedgenet-2018-105800</a>