Internal Medicine最新文献

Essential thrombocythemia (ET) is a myeloproliferative neoplasm that is a rare cause of ischemic stroke. We herein report a 70-year-old man with JAK2 V617F mutation-positive ET who experienced ischemic stroke twice in 1 month due to transient stenosis. In both events, transient stenosis formed at the same curvature of the right middle cerebral artery, and the thrombus disappeared with the initiation of antiplatelet agents. The formation of in situ thrombus at the curvature of the intracranial vessels may be a unique characteristic of JAK2 V617F mutation-positive ET patients.

We encountered a family with hereditary renal failure, renal medullary cysts, pancreatic hypoplasia, hypomagnesemia, liver enzyme abnormalities, and diabetes mellitus (DM). We identified a novel heterozygous variant of HNF1B (NM_000458.4:c.791dup, p.L264Ffs*30) using whole-exome sequencing of genomic DNA samples from this family. This variant is located in the DNA-binding domain of the HNF1B protein and produces a truncated protein with a de novo sequence, suggesting that this variant changes HNF1B binding to genomic DNA or causes nonsense-mediated mRNA decay. Based on the phenotypes and identified gene variants, this family suffers from autosomal dominant tubulointerstitial kidney disease caused by this HNF1B variant.

We herein report a 40-year-old Japanese man with chronic hepatitis B genotype C (viral load 6.7 Log copies/mL) who developed hepatocellular carcinoma (HCC) despite achieving undetectable hepatitis B virus (HBV)-DNA levels with nucleos(t)ide analog (NA) treatment (entecavir). Notably, his hepatitis B surface antigen (HBsAg) level remained elevated at 388.4 IU/mL. Given the continued risk of carcinogenesis associated with HBsAg positivity, we initiated pegylated interferon (PEG-IFN) therapy one month after HCC surgery. Following three periods of PEG-IFN treatment, HBsAg seroclearance (HBsAg-negative state) was achieved.

Aortic intimal sarcoma is a rare disease with no established treatment and a poor prognosis. A 70-year-old man who underwent surgery for a mass shadow extending from the ascending aorta to the left common carotid artery on contrast-enhanced computed tomography was diagnosed with intimal sarcoma and underwent postoperative radiotherapy (66 Gy/33 Fr). Three brain metastases were identified after 1.5 months. No recurrence or enlargement was noted for four months following gamma knife radiosurgery and chemotherapy. To our knowledge, this is the first report of gamma knife radiosurgery delaying the progression of aortic intimal sarcoma.

We herein report a 56-year-old man with severe hypocalcemia during ruxolitinib therapy for myelofibrosis transitioning from JAK2 mutation-positive polycythemia vera. Blood transfusions were administered every one to two weeks for ruxolitinib-induced anemia. Blood tests revealed hypocalcemia with low TRACP-5b, 25-hydroxyvitamin D (25 (OH) D), and 1,25-dihydroxyvitamin D₃ (1,25 (OH) ₂ D₃) levels within the lower reference range. Intact-PTH levels were relatively low compared to calcium levels. Severe hypocalcemia with ruxolitinib is rare and may be caused by a combination of factors, impaired vitamin D activation due to liver or renal insufficiency, accumulation of calcium-chelating agents from blood transfusions, and inadequate compensatory response to PTH.

Asthma is characterized by chronic airway inflammation as its primary pathological condition, which leads to various respiratory symptoms due to airway narrowing, with type 2 inflammation playing a central role. Asthma treatment, primarily centered on inhaled corticosteroids, aims to suppress type 2 inflammation and improve airway narrowing. However, severe asthma that cannot be controlled with high-dose inhaled corticosteroids or other asthma medications remains a clinical issue. The availability of multiple biological agents has recently improved the management of severe asthma. In addition, the concept of clinical remission has emerged as a treatment goal, further clarifying the objectives of asthma management. However, despite these advancements, the treatment of severe asthma driven primarily by non-type 2 inflammation remains a major challenge, and new biologics are currently being developed to address this issue.

A 52-year-old Japanese man with a history of childhood asthma presented at our emergency department with progressive dyspnea. Despite subcutaneous adrenaline injections, salbutamol nebulization, and intravenous methylprednisolone, the carbon dioxide partial pressure (pCO₂) increased to 110 mmHg. The patient was intubated, and mechanical ventilation was initiated because of severe respiratory failure. Severe bronchospasm frequently occurs despite appropriate treatment. Therefore, we decided to administer biologics. After the administration of a single dose of benralizumab, his respiratory condition improved, with normalization of pCO₂, tidal volume, and airway resistance. We successfully extubated the patient two days after the administration of benralizumab.

We herein report an unusual case of Erdheim-Chester disease (ECD), a rare non-Langerhans cell histiocytosis, and emphasize its unique presentation and diagnostic challenges. Our patient exhibited uncommon symptoms and significant organ involvement, particularly pancreatic enlargement that is not typically associated with ECD. Contrast-enhanced harmonic endoscopic ultrasonography (CEH-EUS) and EUS-fine needle aspiration (EUS-FNA) play crucial roles in the comprehensive assessment of the disease, demonstrating their superiority in identifying and characterizing elusive ECD lesions. This is the first report to document pancreatic lesions in patients with ECD evaluated using CEH-EUS. EUS-FNA is valuable for diagnosing rare diseases, including ECD, with diffuse pancreatic enlargement.