Medicine
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Maturity onset diabetes of the young (MODY) is the most common type of monogenic diabetes, characterized by autosomal dominant inheritance, the age of onset is often <25 years old, and the clinical manifestations are atypical. MODY12 is caused by a rare missense mutation of adenosine triphosphate (ATP)-binding cassette transporter subfamily C member 8 (ABCC8) gene and more than 50 ABCC8 variants were associated with MODY12. ⋯ A Chinese Han adult with a heterozygous missense mutation c.3976G > A (p.Glu1326Lys) was diagnosed with MODY12, which was the new pathogenic mutation for the disease. This report expands the spectrum of variants causing MODY12 and reduces misdiagnosis.
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Rheumatoid arthritis (RA) causes inflammation in various organs including the lungs. Pulmonary manifestations include inflammation of the pleura, vasculature, airway, and parenchyma, including interstitial lung disease (ILD). RA-organizing pneumonia (OP) is the third most common cause of RA-ILD. Cases of OP coexisting/complicated with lung cancer have been reported. Therefore, lung cancer can represent a diagnostic challenge, especially in patients with underlying pulmonary diseases including OP. ⋯ Physicians should be aware of the development of lung cancer in regions with OP, even after a partial response to corticosteroid therapy.
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Patients with masked hypertension (MH) and masked uncontrolled hypertension (MUCH) are easily overlooked, and both cause target organ damage. We propose a prediction model for MH and MUCH patients based on clinical features at a single outpatient visit. Data collection was planned before the index test and reference standard were after. ⋯ By analysis, [office systolic blood pressure (OSBP)] (P = .004) and [office diastolic blood pressure (ODBP)] (P = .007) were independent predictors of MH and MUCH. By logistic regression backward stepping method, office BP, body mass index (BMI), total cholesterol (Tch), high-density lipoprotein cholesterol (HDL-C), and left ventricular mass index are contained in this model [area under curve (AUC) = 0.755] and its mean absolute error is 0.015. Therefore, the prediction model established by the clinical characteristics or relevant data obtained from a single outpatient clinic can accurately predict MH and MUCH.
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The objectives of this study were to analyze the distribution characteristics of frailty phenotypes in older adults of Chinese nursing homes, and to compare some motor function characteristics of older adults in nursing homes between frailty and non-frailty, to determine which motor function and frailty are related. This cross-sectional study included 177 older adults living in nursing homes. Frailty was diagnosed by Fried's phenotype, and motor function assessment characteristics (including muscle tone, ROM, and balance) were also evaluated. ⋯ And surprisingly, both frail and non-frail elders were found to have poor strength. Frail nursing home seniors also have body muscle tone, range of motion and balance problems. The elderly of China should focus on strength, stretch and balance training to improve motor function, especially strength training, which is important for prevention frailty.
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Case Reports
Scubcutaneous Mycobacterium marinum infection misdiagnosed as sporotrichosis: A case report.
Nontuberculous mycobacteria (NTM), are natural inhabitants of natural waters, engineered water systems, and soils. As a consequence of their ubiquitous distribution, humans are surrounded by these opportunistic pathogens. ⋯ Home aquarium environments may serve as a possible source of mycobacteria infection in urban family.