Internal medicine
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A 45-year-old man was diagnosed with CML in the chronic phase and therefore was sequentially treated with imatinib, dasatinib, nilotinib, and ponatinib. Neither ABL1 point mutations nor any additional chromosomal abnormalities were detected. ⋯ Two years after ponatinib administration, the patient died of a traumatic brain hemorrhage 15 years after the CML diagnosis. He did not progress to blast crisis, possibly because of the emergence of a loss-of-function ABL1 splicing variant.
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A 64-year-old woman presented with agranulocytosis, anemia, and bacteremia, leading to a diagnosis of T-cell large granular lymphocytic leukemia (T-LGLL). A molecular analysis identified a signal transducer and activator of transcription 3 (STAT3) Y640F variant. ⋯ The patient underwent cord blood transplantation (CBT) after preconditioning with fludarabine, busulfan, and total body irradiation, yielding a STAT3 Y640F variant disappearance, based on allele-specific quantitative polymerase chain reaction (AS-qPCR). In this case, CBT is a promising refractory T-LGLL treatment option, and the STAT3 Y640F variant AS-qPCR is a T-LGLL activity marker.
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Objective The characteristics of gastric cancer in patients with atrophic mucosa and no apparent history of Helicobacter pylori eradication have not been thoroughly investigated. Therefore, this study examined the clinicopathological characteristics of gastric cancer in these patients. Methods We retrospectively examined the endoscopic and pathological characteristics of gastric cancer in patients who underwent endoscopic submucosal dissection. ⋯ Compared with group E, group A was older and had a greater incidence of elevated gastric cancer. The incidence of gastric cancer in the U or M region was lower in group C than in group D. Conclusion Gastric cancer in patients with gastric atrophy and no history of eradication was associated with an older age and higher frequency of elevated-type morphology than in those with a history of eradication.
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Objective Spastic paraplegia 7 (SPG7) is an autosomal recessive neurodegenerative disorder caused by biallelic pathogenic variants in SPG7. It is predominantly characterized by adult-onset slowly progressive spastic paraparesis. While SPG7 presenting with ataxia with or without spasticity is relatively common in Europe and North America, it is considered rare in Japan. ⋯ In addition, Patient 1 exhibited partial ophthalmoplegia and spastic paraparesis, whereas Patient 2 demonstrated cerebellar ataxia without spasticity. Conclusion The rarity of SPG7 in Japan may be attributed to variation in the minor allele frequency of the c.1529C>T, p. Ala510Val variant, which is more prevalent in Europe and North America than in other areas.
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Objective This study aimed to investigate the antihypertensive goal achievement rate for office blood pressure (OBP) and the rate of clinical inertia (inertia) as factors for non-achievement in hypertensive patients in 2020. After documenting these results in the medical records, we observed changes in the achievement rate of the OBP goals in 2020 and 2022. Methods In Study 1, the participants were 517 outpatients (mean age 68.6±13.2 years, 54% women) who visited the Division of Hypertension regularly between March and September 2020. ⋯ The OBP significantly decreased in 2022 in comparison to 2020. The achievement rate of OBP goals showed an increasing trend from 45% in 2020 to 52% in 2022. Conclusion Attending physicians' awareness of unmet antihypertensive goals can help them overcome inertia and improve blood pressure control in patients.