Any medical diagnosis should take a multimodal approach, especially those involving tumour-like conditions, as entities that mimic neoplasms have overlapping features and may present detrimental outcomes if they are underdiagnosed. These case reports present diagnostic pitfalls resulting from overdependence on a single diagnostic parameter for three musculoskeletal neoplasm mimics: brown tumour (BT) that was mistaken for giant cell tumour (GCT), methicillin-resistant Staphylococcus aureus osteomyelitis mistaken for osteosarcoma and a pseudoaneurysm mistaken for a soft tissue sarcoma. Literature reviews revealed five reports of BT simulating GCT, four reports of osteomyelitis mimicking osteosarcoma and five reports of a pseudoaneurysm imitating a soft tissue sarcoma. Our findings highlight the therapeutic dilemmas that arise with musculoskeletal mimics, as well as the importance of thorough investigation to distinguish mimickers from true neoplasms.
Adult ; Aneurysm, False ; diagnosis ; Biopsy ; Bone Diseases ; diagnosis ; Bone Diseases, Metabolic ; diagnosis ; Bone Neoplasms ; diagnosis ; Cell Proliferation ; Diagnosis, Differential ; Diagnostic Errors ; prevention & control ; Female ; Giant Cell Tumors ; diagnosis ; Humans ; Hyperparathyroidism ; complications ; Leukocytosis ; diagnosis ; Male ; Methicillin-Resistant Staphylococcus aureus ; Middle Aged ; Neoplasms ; diagnosis ; microbiology ; Osteomyelitis ; diagnosis ; microbiology ; Osteosarcoma ; diagnosis ; Sarcoma ; diagnosis ; Soft Tissue Neoplasms ; diagnosis ; Tibia ; pathology

Vitamin D deficiency is common and may contribute to osteopenia, osteoporosis and falls risk in the elderly. Screening for vitamin D deficiency is important in high-risk patients, especially for patients who suffered minimal trauma fractures. Vitamin D deficiency should be treated according to the severity of the deficiency. In high-risk adults, follow-up serum 25-hydroxyvitamin D concentration should be measured 3-4 months after initiating maintenance therapy to confirm that the target level has been achieved. All patients should maintain a calcium intake of at least 1,000 mg for women aged ≤ 50 years and men ≤ 70 years, and 1,300 mg for women > 50 years and men > 70 years.
Aged ; Bone Density ; Bone Diseases, Metabolic ; prevention & control ; Calcium, Dietary ; therapeutic use ; Cholecalciferol ; administration & dosage ; Female ; Hip Fractures ; complications ; epidemiology ; Humans ; Male ; Middle Aged ; Osteoporosis ; prevention & control ; Practice Guidelines as Topic ; Prevalence ; Primary Health Care ; methods ; Risk Factors ; Vitamin D ; analogs & derivatives ; blood ; Vitamin D Deficiency ; diagnosis ; epidemiology

Bone Diseases, Metabolic ; diagnosis ; etiology ; therapy ; Chronic Disease ; Humans ; Liver Diseases ; complications ; diagnosis ; therapy

The goal of this study was to evaluate the association between gallbladder (GB) polyps and metabolic syndrome. A total of 5,685 healthy subjects were included, and 485 of these subjects had GB polyps and 744 had metabolic syndrome. In this study, metabolic syndrome was diagnosed according to standards suggested by the AHA/NHLBI ATP III 2005, and abdominal obesity (> or = 90 cm in men and > or = 85 cm in women for Korean) was diagnosed according to standards set forth by the Korean Society for Study of Obesity. Biphasic logistic regression adjusted for age and gender was used to evaluate the association between metabolic syndrome and GB polyps. Subjects who were male (OR, 1.493; 95% CI, 1.11-2.00) and hepatitis B suface Ag (HBsAg) positive (OR, 1.591; 95% CI, 1.06-2.38) were significantly more likely to have GB polyps. The metabolic syndrome group had a higher risk of GB polyps (OR, 1.315; 95% CI, 1.01-1.69) than the group without metabolic syndrome. In conclusion, subjects who were HBsAg positive and male appear to be associated with the risk of GB polyps. The presence of metabolic syndrome also appears to be associated with the risk of GB polyps in Koreans.
Adult ; Age Factors ; Asian Continental Ancestry Group ; Female ; Gallbladder Diseases/*diagnosis/etiology ; Hepatitis B Surface Antigens/blood ; Humans ; Logistic Models ; Male ; Metabolic Syndrome X/complications/*diagnosis ; Middle Aged ; Odds Ratio ; Republic of Korea ; Risk Factors ; Severity of Illness Index ; Sex Factors

Humans ; Liver Diseases ; complications ; diagnosis ; Metabolic Syndrome ; complications ; diagnosis

Adolescent ; Blood Glucose ; analysis ; Blood Pressure ; Body Mass Index ; Cardiovascular Diseases ; etiology ; Child ; China ; epidemiology ; Diabetes Mellitus ; etiology ; Humans ; Metabolic Syndrome ; diagnosis ; epidemiology ; etiology ; prevention & control ; Obesity ; complications ; Practice Guidelines as Topic ; Risk Factors ; Waist-Hip Ratio

Lysinuric protein intolerance (LPI) is a rare inherited metabolic disease, caused by defective transport of dibasic amino acids. Failure to thrive, hepatosplenomegaly, hematological abnormalities, and hyperammonemic crisis are major clinical features. However, there has been no reported Korean patient with LPI as of yet. We recently encountered a 3.7-yr-old Korean girl with LPI and the diagnosis was confirmed by amino acid analyses and the SLC7A7 gene analysis. Her initial chief complaint was short stature below the 3rd percentile and increased somnolence for several months. Hepatosplenomegaly was noted, as were anemia, leukopenia, elevated levels of ferritin and lactate dehydrogenase, and hyperammonemia. Lysine, arginine, and ornithine levels were low in plasma and high in urine. The patient was a homozygote with a splicing site mutation of IVS4+1G > A in the SLC7A7. With the implementation of a low protein diet, sodium benzoate, citrulline and L-carnitine supplementation, anemia, hyperferritinemia, and hyperammonemia were improved, and normal growth velocity was observed.
Amino Acid Metabolism, Inborn Errors/complications/diet therapy/*genetics ; Antifungal Agents/therapeutic use ; Antigens, CD98 Light Chains/genetics ; Asian Continental Ancestry Group/*genetics ; Carnitine/therapeutic use ; Child, Preschool ; Citrulline/therapeutic use ; Diet, Protein-Restricted ; Disorders of Excessive Somnolence/complications/*diagnosis/drug therapy ; Female ; Growth Disorders/complications/*diagnosis ; Homozygote ; Humans ; Hypercalcemia/complications/*diagnosis ; Metabolic Diseases/complications/*diagnosis ; Mutation ; Nephrocalcinosis/complications/*diagnosis ; Republic of Korea ; Sequence Analysis, DNA ; Sodium Benzoate/therapeutic use ; Vitamin B Complex/therapeutic use

Uremic encephalopathy is a well-known disease with typical MR findings including bilateral vasogenic or cytotoxic edema at the cerebral cortex or basal ganglia. Involvement of the basal ganglia has been very rarely reported, typically occurring in uremic-diabetic patients. We recently treated a patient who had non-diabetic uremic encephalopathy with an atypical lesion distribution involving the supratentorial white matter, without cortical or basal ganglia involvement. To the best of our knowledge, this is only the second reported case of non-diabetic uremic encephalopathy with atypical MR findings.
Adult ; Brain Diseases, Metabolic/*diagnosis ; *Diffusion Magnetic Resonance Imaging ; Humans ; Male ; Uremia/*complications

INTRODUCTIONMetabolic syndrome (MS) is a cluster of risk factors that increases the risk of cardiovascular disease and type 2 diabetes mellitus (DM). Waist circumference (WC), a surrogate indicator of abdominal fat mass, is used to measure central obesity associated with increased risk of hypertension, insulin resistance and type 2 DM, whereas body mass index (BMI) is traditionally used to measure somatic obesity. This study aimed to identify the WC and BMI cut-off points to predict the metabolic risk factors for MS and to determine which is a better predictor.

METHODSThis was a cross-sectional study conducted over a period of six months. The study involved 355 subjects aged 13-91 years. Youden's index was used to identify the optimal cut-off points.

RESULTSThe optimal cut-off point of WC to predict individual metabolic risk in females was 84.5-91.0 cm. The BMI cut-off point to predict hypertension and raised fasting blood sugar was 23.7 kg/m², and that for low level high-density lipoprotein cholesterol was 22.9 kg/m². For males, the corresponding cut-off points were 86.5-91.0 cm for WC and 20.75-25.5 kg/m² for BMI, with corresponding sensitivities and specificities. Area under the curve and the odds of developing individual and ≥ 2 metabolic risk factors for MS were higher for WC than for BMI.

CONCLUSIONWC is a better predictor of metabolic risk factors for developing MS than BMI. Therefore, we propose that metabolic risk factors be screened when WC ≥ 80 cm is found in both genders regardless of BMI.

Adolescent ; Adult ; Aged ; Aged, 80 and over ; Body Composition ; Body Mass Index ; Cardiovascular Diseases ; etiology ; Cross-Sectional Studies ; Diabetes Mellitus, Type 2 ; etiology ; Female ; Hospitals, District ; Humans ; Hypertension ; Male ; Metabolic Syndrome ; diagnosis ; Middle Aged ; Obesity, Abdominal ; complications ; diagnosis ; Outpatients ; Reference Values ; Risk Factors ; Waist Circumference ; Young Adult

PURPOSE: The prevalence of metabolic syndrome (MetS) generally varies depending on its diagnostic definition, and many different definitions inevitably lead to substantial confusion and lack of comparability between studies. Despite extensive research, there is still no gold standard for the definition of MetS, which continues to be a matter of debate. In this study, we investigate whether and to what extent its individual components are related to the risk of cardiovascular disease (CVD) in Korean population. MATERIALS AND METHODS: We used data from the 2005 Korea National Health and Nutrition Examination Survey, which is a nationally representative survey of the noninstitutionalized civilian population. The study sample consisted of 1,406 Korean adults (587 men, 819 women) who were diagnosed with MetS based on the revised National Cholesterol Education Program (NCEP) criteria. Central obesity is defined as a waist circumference cutoff point reported in Asia-Pacific criteria for obesity based on waist circumference by the World Health Organization. CVD was defined as presence of stroke, myocardial infarction, or angina pectoris on a medical history questionnaire. RESULTS: The CVD prevalence among the subjects was 6.8% for men and 8.6% for women. Besides age, the components of MetS showing a significant difference in the number of CVD events were high fasting glucose (FG) in men and high blood pressure (BP) and high FG in women. After adjusting for gender and age, high FG was shown to yield a significant difference (odds ratio: unadjusted 2.08, adjusted 1.81), alone among all MetS components. However, after adjusting for only age, no significant difference was found. CONCLUSION: Fasting glucose level is the highest predicting factor for CVD in Korean patients with MetS based on the revised NECP definition.
Age Factors ; Blood Glucose/analysis ; Cardiovascular Diseases/epidemiology/*etiology ; Chi-Square Distribution ; Female ; Health Promotion ; Health Surveys ; Humans ; Hypertension/complications/epidemiology ; Male ; Metabolic Syndrome X/complications/*diagnosis/epidemiology ; Middle Aged ; Odds Ratio ; Republic of Korea/epidemiology ; Risk Factors ; Sex Factors