Internal medicine
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Case Reports
Proton Beam Therapy as a Curative Treatment for a Young Case of Unresectable Tracheal Adenoid Cystic Carcinoma.
Primary tracheal adenoid cystic carcinoma (TACC) is a rare malignancy without an established treatment. Central airway obstruction due to TACC often decreases the quality of life and has life-threatening consequences. ⋯ PBT led to complete remission of TACC and the almost complete disappearance of the respiratory symptoms without adverse events. PBT is a useful and safe treatment for unresectable primary TACC.
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Desminopathy is a cardiac and skeletal myopathy caused by disease-causing variants in the desmin (DES) gene and represents a subgroup of myofibrillar myopathies, where cytoplasmic desmin-postive immunoreactivity is the pathological hallmark. We herein report a 28-year-old Japanese man who was initially diagnosed with sporadic hypertrophic cardiomyopathy with atrioventricular block at 9 years old and developed weakness in the soft palate and extremities. ⋯ Genetic testing confirmed a de novo mutation of DES, which has already been linked to desminopathy. As the molecular diagnosis of desminopathy is challenging, particularly if patients show predominantly cardiac signs and a routine skeletal muscle biopsy is unavailable, these characteristic pathological findings of endomyocardial proteinase K-resistant desmin aggregates might aid in clinical practice.
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Case Reports
A Patient with Mitochondrial Disease on Dialysis with Long-term Follow-up of Cardiomyopathy: An Autopsy Case Report.
A 59-year-old man developed diabetes at 24 years old and underwent hemodialysis at 42 years old. At 54 years old, cardiac dysfunction with left ventricular hypertrophy was detected, followed by complete atrioventricular block at 57 years old. ⋯ He died of septic shock at 59 years old, and an autopsy confirmed mitochondrial cardiomyopathy. If progressive cardiac hypertrophy and conduction disturbances are observed in patients with diabetes mellitus on long-term hemodialysis, mitochondrial disease needs to be considered.
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Case Reports
First Case Report of Peritoneal Dialysis-associated Peritonitis Caused by Lysinibacillus Sphaericus.
We herein report a case of peritoneal dialysis-associated peritonitis caused by Lysinibacillus sphaericus in a 40s-year-old patient. Treatment was initiated with intermittent intraperitoneal cefazolin and ceftazidime. ⋯ The patient experienced no adverse events and no recurrence for 30 days. The patient had four dogs, and the infection was deemed likely to have been caused by environmental contamination and inadequate catheter replacement.
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Myoglobin is a well-known cause of acute kidney injury (AKI) due to rhabdomyolysis. However, whether or not removing serum myoglobin by on-line hemodiafiltration (OHDF) improves the kidney function remains unclear. ⋯ A urinalysis and blood collection results obtained before and after OHDF demonstrated that OHDF improved the kidney function by removing a large amount of serum myoglobin rather than via urinary excretion. In conclusion, OHDF may prevent AKI progression effectively when the urine volume is insufficient.