Internal medicine
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Most patients with hereditary spherocytosis (HS) have a family history of disease, while those without such a history are difficult to diagnose. We herein report a case of HS with no family history harboring a novel heterozygous mutation of SPTA1, c.2161G>A (p. E721K), and a homozygous polymorphism of UGT1A1*6. ⋯ The coexistence of HS and Gilbert's syndrome increases the risk of gallstones. Therefore, splenectomy, alone or in combination with cholecystectomy, is recommended. The determination of genetic diathesis provides useful information for the management of hemolytic anemia.
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Case Reports
Orofacial Dyskinesia and Intractable Hiccups in a Patient with Varicella-Zoster Virus Encephalomyelitis.
A 73-year-old Japanese man with diabetic complications presented with involuntary lip movements and long-lasting hiccups after developing zoster rash. Magnetic resonance imaging revealed lesions involving the medial temporal lobe and C1 level of the spinal cord. ⋯ Although the culprit lesion for the hiccups was unclear, further examinations may have clarified this issue. As immunocompromised patients with herpes zoster may develop CNS complications with a wide variety of symptoms, special care is needed.
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Objective This study assessed the relationships between oral health (number of remaining and healthy teeth and periodontal disease) and type 2 diabetes mellitus (T2DM) to contribute to improved patient care. Patients We conducted a cross-sectional cohort study of consecutive patients being regularly treated for chronic diseases (T2DM, hypertension, and dyslipidemia). A dentist or dental hygienist accurately evaluated the oral environment. ⋯ Multivariable logistic regression for the presence of RRT in the T2DM group found that age [odds ratio (OR), 1.08; 95% confidence interval (CI), 1.03-1.13; p<0.01] and regular dental consultations (OR, 0.28; 95% CI, 0.10-0.76; p=0.01) were independently and significantly associated. Conclusion The number of remaining or healthy teeth was significantly lower in patients with T2DM than in those without T2DM in current Japanese clinical practice. Regular dental consultation is recommended to preserve remaining teeth in patients with T2DM.
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A 54-year-old man whose awake percutaneous arterial oxygen saturation (SpO2) was 94% was diagnosed with obstructive sleep apnea by polysomnography (PSG). His apnea-hypopnea index (AHI) was 138.8 (AI: 4.7 and HI: 134.1), so he was treated with continuous positive airway pressure (CPAP), and his condition was considered well-controlled by the CPAP tracking system (AHI=3.4), with improvement seen in his symptoms when he left our hospital. ⋯ His hypercapnia improved following voluntary hyperventilation. Idiopathic central alveolar hypoventilation was diagnosed, with the AHI considered to be well-controlled by the CPAP tracking system but not at all according to PSG.
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Case Reports
A Bone Histomorphometric Analysis of Hypophosphatasia-related Osteoporosis after Teriparatide Treatment.
A 79-year-old man was admitted with a compression fracture of the first lumbar vertebra. His alkaline phosphatase (ALP) level was 35 IU/L, and his dual energy X-ray absorptiometry T score was -3.7 standard deviations, indicating osteoporosis. A genetic analysis showed a mutation of the alkaline phosphatase biomineralization-associated gene encoding tissue-nonspecific alkaline phosphatase. ⋯ A bone biopsy performed after three years of teriparatide treatment showed that cancellous bone was adynamic. In cortical bone, tetracycline double-labeling indicates enhanced bone formation. Teriparatide may thus be a viable treatment option even in patients with hypophosphatasia.