Vitamin B12 deficiency classically presents with neurological or hematological abnormalities. Prior reports have shown that vitamin B12 deficiency also causes olfactory dysfunction when patients have concurrent neurological or hematologic findings. To our knowledge, this is the first case of isolated parosmia caused by vitamin B12 deficiency in the absence of neurological/hematological abnormalities or structural sinonasal disease. A 20-year-old man presented with a 3-month history of parosmic symptoms. Nasal endoscopy, brain MRI, and neurological examinations were normal. A laboratory evaluation demonstrated marked vitamin B12 deficiency without hematologic abnormalities, and oral methylcobalamin led to the complete resolution of parosmia within 3 months. Clinicians should consider vitamin B12 deficiency as a reversible cause of olfactory dysfunction.
A 77-year-old woman presented with anorexia and weight loss. Chest computed tomography revealed a pulmonary mass and diffuse ground-glass opacity. She had undergone gastrectomy for gastric signet-ring cell carcinoma 18 years previously. A biopsy revealed poorly differentiated adenocarcinoma with signet ring cells. Treatment was initiated after the diagnosis of primary lung cancer. A temporary response was achieved; however, the patient died eight months later. Subsequent immunohistochemical findings were similar to the pathological findings obtained 18 years earlier, thus indicating gastric cancer recurrence. This case highlights the possibility of a late recurrence after surgery for gastric cancer.
A 60-year-old man with no history of hematologic disease presented with leukocytosis and thrombocytopenia. A bone marrow (BM) examination revealed 85.0% blasts with a B/myeloid immunophenotype and a complex Philadelphia (Ph) chromosome-positive karyotype: 46,XY,t(9;22)(q34;q11.2)[3]/45,XY,der(9)t(9;22),add(19)(p13),-22[17]. Fluorescence in situ hybridization detected single (6%) or duplicated (92%) BCR::ABL1 signals in bone marrow (BM) blasts but only single BCR::ABL1 signals (95%) in peripheral blood (PB) neutrophils. These findings indicate that the duplicated-signal blasts arrested their differentiation, while single-signal blasts retained differentiation potential, supporting a diagnosis of de novo blast phase chronic myeloid leukemia. An evaluation of BCR::ABL1 positivity in PB neutrophils provides valuable diagnostic insights into Philadelphia chromosome-positive leukemias.
A Sister Mary Joseph nodule is a cutaneous umbilical metastasis indicating advanced intra-abdominal malignancy with a poor prognosis. An 84-year-old man presented with an umbilical nodule that was completely excised and diagnosed to be metastatic adenocarcinoma from advanced gastric cancer. After FOLFOX-nivolumab, the primary lesion and lymphadenopathy showed near-complete radiographic regression, and conversion total gastrectomy achieved a pathological complete response. The indications for surgery were insufficient, and therefore systemic therapy or surveillance was continued. This case highlights the uncertainty surrounding conversion surgery after an immune checkpoint inhibitor-induced near-complete response and suggests that neither umbilical metastasis nor advanced age alone should preclude the consideration of curative-intent multimodal treatment in fit patients.
Alcohol consumption remains a leading preventable cause of morbidity and mortality; however, abstinence counseling is not routinely implemented in general internal medicine. This review proposes a Japan-oriented framework for translating the diagnosis of alcohol-related diseases into behavioral change interventions. Central to this framework is the concept of the "teachable moment," in which a new diagnosis increases patient motivation and creates opportunities for timely clinical intervention. We reviewed common alcohol-related conditions, including liver disease, alcohol-related cancers, acute pancreatitis, atrial fibrillation, hypertension, hypertriglyceridemia, gout, sleep disorders, and pneumonia, and summarized the evidence that abstinence or reduced alcohol consumption can improve outcomes. We also present an integrated approach that combines brief intervention, liver function-guided pharmacotherapy, nutritional rehabilitation, and specialist collaboration. ALDH2 and ADH1B polymorphisms, common in East Asians, may aid in risk stratification and treatment selection.
Protein-losing enteropathy (PLE) complicated by cytomegalovirus (CMV) enterocolitis is rare in adults. We report a fatal case of refractory PLE complicated by CMV enterocolitis after chemotherapy for multiple myeloma. A 71-year-old woman developed severe diarrhea and hypoalbuminemia after a single course of bortezomib-based therapy. CMV enterocolitis was diagnosed by an endoscopic biopsy despite initially negative blood CMV DNA. Although antiviral therapy controlled the CMV infection, PLE and intestinal ulceration persisted, leading to perforation and uncontrollable gastrointestinal bleeding. This case highlights the importance of early consideration of CMV enterocolitis and prompt colonoscopic evaluation in patients with persistent diarrhea and hypoalbuminemia following chemotherapy.
Visceral disseminated varicella-zoster virus infection (VD-VZV) is a rare but life-threatening condition, and treatment-response monitoring has not yet been established. We report a case of a 47-year-old woman with systemic lupus erythematosus who developed primary varicella complicated by VD-VZV during prednisolone and mycophenolate mofetil therapy. She presented with a generalized vesicular rash, dyspnea, severe epigastric pain, pneumonia, and acute hepatitis with negative VZV IgM/IgG. Intravenous acyclovir was initiated and escalated, resulting in a clinical improvement. Serum VZV DNA quantified by droplet digital PCR peaked on day 4 (3.1×106 copies/mL) and declined with recovery, suggesting that serial serum VZV DNA monitoring may be useful for assessing the disease activity and treatment response in such patients.
OBJECTIVE:To investigate the nationwide trends in pharmacological, radioactive iodine (RAI), and surgical treatments for hyperthyroidism in Japan from 2014 to 2023. METHODS:Annual sex- and age-stratified data on methimazole (MMI), propylthiouracil (PTU), potassium iodide (KI), RAI therapy, and thyroidectomy were extracted from the National Database of Health Insurance Claims (NDB). Crude and age-adjusted counts and rates per 1,000 (drugs) or 100,000 (RAI and surgery) person-years were calculated for each year. The annual trends were analyzed using linear and Poisson regression models. RESULTS:The cross-sectional distributions strongly reflected the female reproductive life stages. Notably, RAI therapy charges exhibited a bimodal peak distribution in females (25-29 and 45-49 years), whereas thyroidectomy peaked at 30-34 years, coinciding with the intervening childbearing period. Longitudinally, age-adjusted MMI and KI prescriptions and surgeries increased significantly (P ＜0.0001), whereas PTU prescriptions and RAI therapy declined (P ＜0.0001). Subgroup analyses revealed distinct age-dependent shifts, with MMI and KI use increasing across most age groups, particularly among individuals aged ≥90 years. PTU use showed divergent trends by sex, decreasing among males, but increasing among older females, particularly those aged ≥90 years. Surgical interventions increased mainly among older adults, whereas RAI therapy declined across most age groups. CONCLUSION:Over the past decade, hyperthyroidism management in Japan has shifted toward MMI consolidation, expanded KI use in the super-elderly population, declining RAI therapy in broad-aged populations, and increasing surgery in older adults. These age-dependent treatment shifts reflect the evolving clinical practice and therapeutic challenges posed by a rapidly aging society.
A 73-year-old man developed progressive gait disturbance and diplopia over two weeks concomitant with rapidly enlarging pulmonary lesions. Examination revealed proximal lower limb weakness, diminished deep tendon reflexes, ataxic dysarthria, limb and truncal ataxia, and orthostatic hypotension. Nerve conduction studies revealed reduced compound muscle action potentials with postexercise facilitation. Elevated anti-P/Q-type voltage-gated calcium channel antibodies confirmed paraneoplastic cerebellar degeneration (PCD) with Lambert-Eaton myasthenic syndrome (LEMS). Bronchoscopy revealed small-cell lung cancer. Although a poor performance status (PS) initially precluded chemotherapy, high-dose intravenous immunoglobulin therapy improved the PS, enabling cancer treatment. Immunotherapy should be considered when a PCD-LEMS-related poor PS prevents cancer therapy.
Objective This study investigated the efficacy, safety, and tolerability of hyaluronidase-facilitated subcutaneous immunoglobulin (fSCIG) 10% as maintenance therapy in Japanese patients with chronic inflammatory demyelinating polyradiculoneuropathy (CIDP) and multifocal motor neuropathy (MMN).Methods This phase 3, multicenter, open-label study (NCT05084053, jRCT2051210110) comprised a ≤8-week screening/baseline period, a 6-month fSCIG 10% treatment period (Epoch 1), and ≥6 months' extended treatment (Epoch 2). fSCIG 10% was administered at each patient's previous intravenous immunoglobulin (IVIG) dose and interval. The primary endpoints were relapse rate (≥1-point increase in adjusted Inflammatory Neuropathy Cause and Treatment disability score) for CIDP and change from baseline in maximum handgrip strength (more affected hand) for MMN.Patients Adults with CIDP (N=19) or MMN (N=7) on stable IVIG dose.Results In the CIDP group, no patient developed a relapse during Epoch 1; the upper bound of the 95% confidence interval (CI) was 17.65%, below the preset efficacy threshold (57%). For MMN, median (range) and mean (95% CI) change from baseline in maximum grip strength (more affected hand) was 0.0 (-16, 18) and -1.1 (-12.9, 10.6) kPa, respectively. In the CIDP/MMN combined safety analysis across 12 months, 262 treatment-emergent adverse events (TEAEs; 96 systemic, 166 local) in 18 patients (69.2%) were considered fSCIG 10% related. No severe or serious TEAEs occurred.Conclusion fSCIG 10% prevented CIDP relapse and maintained a stable disease course in MMN in Japanese patients. The treatment was well tolerated, with no severe or serious adverse events related to the treatment.
An intraductal papillary mucinous neoplasm (IPMN) was incidentally detected in a 91-year-old woman 12 years before her current admission. The patient declined additional examinations and surgical intervention. Over the subsequent years, she experienced recurrent acute pancreatitis and ultimately developed a gastrointestinal perforation due to the rupture of the IPMN. Considering her age, general condition, and personal wishes, conservative management was selected, which allowed her to successfully resume oral intake until death from cancer. This rare clinical course provides valuable insights into the management of older adults with IPMN, a condition that is likely to be frequently encountered as the population ages.
SMARCB1/INI1-deficient carcinomas are rare and aggressive, and their responses to immune checkpoint inhibitors remain incompletely characterized. A 38-year-old woman presented with massive bilobar liver metastasis, ascites, bone lesions, and a small pancreatic tail lesion without an identifiable primary tumor. Liver biopsy revealed an undifferentiated carcinoma with rhabdoid features and complete loss of INI1. Comprehensive genomic profiling revealed microsatellite stability, low tumor mutational burden (TMB), and SMARCB1 copy number loss. The programmed death ligand 1 combined positive score was 18. Chemotherapy plus nivolumab induced transient regression of the hepatic lesions; however, progression occurred and the patient died 8 months after presentation.
Fish bone migration into the bile duct after pancreaticoduodenectomy (PD) is rare, and the mechanism of recurrent migration is unclear. We report a case in which multiple fish bones were repeatedly identified and removed from the intrahepatic bile duct during four endoscopic retrograde cholangiopancreatography procedures over more than six years after PD. The foreign bodies were definitively identified as fish bones using a component analysis and DNA metabarcoding. These findings suggest that recurrent migration may occur even in the absence of apparent anatomical abnormalities and it may be associated with postoperative intestinal dysmotility and altered intraluminal flow dynamics.
