Citrin deficiency (CD) is a hereditary disorder caused by SLC25A13 mutations that manifests as neonatal intrahepatic cholestasis caused by CD (NICCD), failure to thrive and dyslipidemia caused by CD (FTTDCD), and adult-onset type 2 citrullinemia (CTLN2). Citrin, an aspartate-glutamate carrier primarily expressed in the liver, is a component of the malate-aspartate shuttle, which is essential for glycolysis. Citrin-deficient hepatocytes have primary defects in glycolysis and de novo lipogenesis and exhibit secondarily downregulated PPARα, leading to impaired β-oxidation. They are unable to utilize glucose and free fatty acids as energy sources, resulting in energy deficiencies. Medium-chain triglyceride (MCT) supplements are effective for treating CD by providing energy to hepatocytes, increasing lipogenesis, and activating the malate-citrate shuttle. However, patients with CD often exhibit growth impairment and irreversible brain and/or liver damage. To improve the quality of life and prevent irreversible damage, MCT supplementation with a diet containing minimal carbohydrates is recommended promptly after the diagnosis.

Objective Testing for the Janus activating kinase 2 (JAK2) V617F mutation is important for diagnosing and treating myeloproliferative neoplasms (MPNs). Recently, urine cell-free DNA (ucfDNA) was reported to be useful for detecting tumor-specific gene mutations in several solid tumors. However, its utility in detecting such mutations in hematological malignancies has not yet been assessed. In this study, we assessed whether or not the JAK2 V617F mutation could be detected in ucfDNA and whether or not its positivity rate in ucfDNA was associated with the JAK2 V617F allele ratio of peripheral blood cells in patients with MPN.

Methods The JAK2 V617F allele ratio of genomic DNA from peripheral blood cells was determined using quantitative polymerase chain reaction (qPCR) or droplet digital PCR (ddPCR). ucfDNA was subjected to ddPCR. The correlation between the JAK2 V617F mutation positivity rates of blood-derived DNA and those of ucfDNA was assessed.

Materials Twelve patients with polycythemia vera and 12 patients with essential thrombocythemia were enrolled. Ethylenediaminetetraacetic acid-treated peripheral blood (100 mL) and 15-30 mL of fresh urine were used.

Results The JAK2 V617F mutation was detected in the ucfDNA from all 20 JAK2 V617F mutation-positive patients. In addition, the JAK2 V617F mutation positivity rate of ucfDNA was correlated with the JAK2 V617F allele ratio of blood-derived DNA, including in both estimated glomerular filtration rate (eGFR) groups (patients with an eGFR ≥50 or <50 mL/min/1.73 m²).

Conclusion Our results indicate that ucfDNA is a valuable tool for diagnosing and monitoring MPN. Given these findings, other disease-specific gene mutations in hematological malignancies may also be detectable in ucfDNA.

Metastatic colorectal neuroendocrine carcinoma (NEC) is often treated using a chemotherapy protocol for small-cell lung cancer; however, the prognosis is extremely poor. A 55-year-old woman with BRAF V600E-mutated transverse colon NEC and liver metastases underwent colectomy followed by FOLFOXIRI plus bevacizumab. Consequently, the liver metastases markedly shrank. Owing to later worsening of the liver metastases, she received encorafenib and binimetinib plus cetuximab. Despite discontinuing binimetinib due to myalgia, she had a long-term response with a progression-free survival of 14 months and an overall survival of more than 27 months. A chemotherapy protocol for BRAF-mutated metastatic colorectal cancer may be a treatment option for BRAF V600E-mutated colorectal NEC.

A 52-year-old man who had been using a proton pump inhibitor (PPI) and a potassium-competitive acid blocker (P-CAB) for 14 years underwent esophagogastroduodenoscopy and was found to have three neuroendocrine tumors (NETs) in the gastric body. Following detailed examinations, parietal cell dysfunction was excluded, and the NETs did not meet the criteria for the Rindi classification types I-III. The lesions were ultimately considered to be associated with the long-term use of the PPI and P-CAB. We performed endoscopic submucosal dissection of the lesions, with no recurrence or new lesions noted after discontinuation of the PPI and P-CAB.

Prothrombin time (PT) is a key parameter for assessing the severity of liver disease. We present the case of a 37-year-old woman with severe acute liver injury due to autoimmune hepatitis. Although prednisolone drastically improved her hepatocyte function, her PT did not recover to the reference range. A review of her medical records revealed that the patient had normal transaminase levels and prolonged PT 2 years previously. Further examinations of her coagulopathy revealed that she had low factor VII activity, suggesting a diagnosis of factor VII deficiency. Our experience suggests that altered coagulopathy should be considered in cases of liver injury with an extraordinary PT.

The prognosis of patients with peritoneal metastases from pancreatic cancer is poor, largely due to massive ascites, which precludes systemic treatment. Two patients with a poor performance status and malignant ascites were treated with cell-free and concentrated ascites reinfusion therapy followed by combined chemotherapy with intraperitoneal paclitaxel, intravenous gemcitabine, and nab-paclitaxel. These patients achieved a survival of 19 and 36 weeks with a relatively good quality of life. Combined intraperitoneal paclitaxel and systemic chemotherapy may provide effective palliative management for some patients with peritoneal metastases from pancreatic cancer.

Hemodialysis (HD)-induced myocardial stunning, characterized by transient left ventricular systolic dysfunction during HD, has been reported to be common and associated with a poor prognosis. However, the pathophysiology is not fully understood. We herein report a case of HD-induced myocardial stunning without obstructive coronary artery disease complicated by coronary microvascular dysfunction (CMD), suggesting that CMD plays a crucial role in the pathophysiology of this disease.

An 80-year-old man presented with electrolyte abnormalities, particularly hypocalcemia (3.6 mg/dL). He was diagnosed with bone and lymph node metastases from prostate cancer seven years earlier and continuously received goserelin, bicalutamide, and zoledronate. He later developed gradually worsening hypocalcemia, hypokalemia, hypophosphatemia, hypouricemia, renal dysfunction, and weight loss. Urinary potassium and phosphate loss, renal glucosuria, metabolic acidosis, and a low urine pH (5.0) were observed. Given the acquired onset and clinical course, we diagnosed the patient with zoledronate-induced proximal renal tubular acidosis. In the present case, severe hypocalcemia may have been caused by malnutrition and inappropriate long-term use of zoledronate.

A 37-year-old woman with chronic kidney disease (CKD) stage G4 with membranoproliferative glomerulonephritis was hospitalized for nephrotic syndrome and hypertension due to superimposed preeclampsia at 27 weeks into her third pregnancy. Proteinuria did not worsen significantly after pulse steroid therapy. Delivery was induced at 30 weeks' gestation due to the maternal renal function and fetal growth. No obvious fetal complications other than preterm delivery were observed. In this case, we successfully managed a high-risk patient with membranoproliferative glomerulonephritis complicated by advanced CKD, nephrotic syndrome, and hypertension, which are independent risk factors for pregnancy complications.

Among nontuberculous mycobacterial pulmonary diseases (NTM-PDs), Mycobacterium abscessus species pulmonary disease (MABS-PD) is one of the most severe and intractable infections. We herein report a 45-year-old woman with advanced lymphangioleiomyomatosis (LAM) who developed MABS-PD while undergoing sirolimus therapy. MABS-PD was immediately controlled using antibiotic therapy, although the patient's lung transplant registration was significantly delayed. To our knowledge, this is the first case report on the development of NTM-PD in a patient with LAM before lung transplantation. This case suggests that the early diagnosis and optimal treatment of NTM-PD are crucial in patients with advanced LAM.

A 72-year-old man presented with bilateral ground-glass opacities in the lower lung fields on chest radiography. Computed chest tomography showed ground-glass opacities and micronodules in both lower lungs. A video-assisted thoracoscopic biopsy of the right lower lung showed homogeneous thickening of the alveolar septa with fibrosis and inflammatory cell infiltration consistent with fibrotic non-specific interstitial pneumonia (fNSIP). Cicatricial organizing pneumonia and intraluminal pulmonary ossification containing bone marrow that was considered to represent dendriform pulmonary ossification. Idiopathic fNSIP was diagnosed. The patient remains stable under antifibrotic treatment.

A 48-year-old man presented with a fever and back pain and was referred to our hospital with multiple bone destruction and abscess formation. A sputum examination revealed Mycobacterium intracellulare, and pathological findings revealed an indistinct granuloma and acid-fast bacilli, leading to a diagnosis of disseminated nontuberculous mycobacteriosis. Anti-interferon-γ-neutralizing autoantibodies were detected in the serum, and acquired immunodeficiency was suspected to be the etiology. Antimicrobial chemotherapy was initiated, and the lesions generally regressed. However, only the skull lesions worsened, requiring local resection to control the disease. Currently, the patient is continuing to receive drug therapy with good disease control after debridement.

Gastrointestinal pseudo-obstruction (GIPO) is a phenotype of the paraneoplastic neurological syndrome (PNS). We herein report a case of small-cell lung carcinoma (SCLC) with GIPO elicited by an immune checkpoint inhibitor (ICI). A 75-year-old man with SCLC developed intractable intestinal obstruction after receiving one course of anticancer drugs (durvalumab, etoposide, and carboplatin). The serum anti-Hu antibody (Hu-Ab) was positive, and the patient was diagnosed with GIPO. Corticosteroid treatment did not improve the GIPO, and the patient died. There are few reports of GIPO after ICI treatment in patients with lung cancer, so a further investigation will be required to elucidate the mechanism by which ICIs elicit PNS. Checking for neuronal antibodies may help identify patients with SCLC who are at risk of developing PNS due to ICI treatment.

A 29-year-old woman who had been diagnosed with acute myeloid leukemia presented with persistent grade-4 febrile neutropenia (FN) after initial chemotherapy with idarubicin and cytarabine. Despite intensive treatment, FN persisted. Subsequently, her nose became reddish and swollen, obstructing the nasal cavities. Computed tomography revealed swelling of the nostrils and an irregular tracheal surface. Debridement of the nasal lesion and a bronchoscopic biopsy of the tracheal lesion were also performed. A histopathological examination revealed pseudocarcinomatous hyperplasia (PCH) of the nose and necrotizing tracheitis. Both nasal PCH and necrotizing tracheitis ameliorated when the patient recovered from leukocytopenia.

A 63-year-old woman with adult T-cell leukemia (ATL) lymphomatous type developed a mild dry cough. Computed tomography revealed lung lesions with a tree-in-bud appearance during intensive chemotherapy. Antibodies against Mycobacterium avium complex were positive. Bronchoalveolar lavage culture showed growth of M. abscessus complex. Finally, M. abscessus subsp. massiliense was also identified. Sequential use of antimicrobials, including macrolides, was introduced during intensive chemotherapy, and the patient successfully underwent allogeneic hematopoietic stem cell transplantation (AHSCT). This is the first case report of a patient with ATL complicated by M. massiliense lung infection, who was successfully treated with haploidentical AHSCT using various combinations of antimicrobials.

We herein report two cases of Guillain-Barré syndrome (GBS) mimicking lumbar spinal stenosis (LSS). Both cases were initially diagnosed as LSS based on prominent segmental weakness in the L5 and S1 myotomes and coexisting LSS on magnetic resonance imaging. However, neurological and electrophysiological examinations revealed abnormalities that extended to the upper extremities, although slight, prompting us to suspect GBS. Subsequently, serum antiganglioside antibodies and remarkable responsiveness to intravenous immunoglobulin therapy confirmed GBS. We suspect that the focal blood-nerve barrier disruption due to preexisting LSS might have contributed to the segmental weakness in this atypical GBS case.

Alice in Wonderland syndrome (AIWS) is extremely rare, occurring more often in young individuals than in older adults. Symptoms of this syndrome typically include an altered body image, size perception, and time perception. However, the pathophysiology and lesions responsible for this syndrome remain unclear. In most cases, specific lesions cannot be identified using computed tomography or magnetic resonance imaging. Two patients with isolated cortical venous thrombosis in the right occipital area experienced transient visual symptoms of AIWS. Furthermore, a literature search indicated that AIWS with visual distortions is associated with right occipital lobe lesions, supporting the findings of our study.

Immune checkpoint inhibitors (ICIs) can cause immune-related adverse events (irAEs). There are a few case reports of remitting seronegative symmetrical synovitis with pitting edema syndrome (RS3PE) as an irAE. We herein report a 49-year-old Japanese man who developed acute-onset polyarthralgia and edema of the back of both hands and bilateral lower legs after pembrolizumab administration for lung cancer. The patient's lung cancer was in complete remission, leading to the diagnosis of RS3PE induced by pembrolizumab rather than malignancy. When patients show RS3PE during ICI treatment, rheumatologists should consider the possibility of an irAE after excluding malignancy and systemic diseases.

Spontaneous abdominal wall hematoma is a relatively uncommon condition triggered by various factors, including anticoagulation therapy and trauma. However, reports of unprovoked cases without anticoagulants that recur shortly after treatment are limited. We herein report an elderly woman who had been prescribed corticosteroids and experienced early recurrence of hematoma following treatment, with no discernible triggers. This case highlights the possibility that patients with underlying predisposing factors may experience early hematoma recurrence at the same site, even in the absence of apparent triggers. Clinicians should monitor these patients to promptly identify and address potential recurrences.