Objective The long-term effect of the ABO blood type on the clinical course of patients with pancreatic cancer (PC) is inconclusive. This study aimed to determine whether or not the ABO blood type influences the long-term outcomes of PC in Japanese patients.
Methods The medical records of Japanese patients with PC were reviewed. Data, including the age, sex, and outcomes, from the Ehime Pancreato-Cholangiology Study Group were analyzed.
Results The mean age of the 406 patients was 71.0±10.5 years, and 220 (54.2%) were men. A total of 44.6%, 20.7%, 22.4%, and 12.3% had blood type A, B, O, and AB, respectively. The median survival time (MST) of patients with A alleles was shorter than that of patients with non-A alleles (p=0.048), especially among those who underwent resection (p=0.031). In contrast, no marked difference in the MST was noted among those who underwent chemotherapy and palliative care. Finally, a multivariate analysis confirmed A alleles as an independent factor associated with the long-term outcome of PC (p<0.05 in 2 different models).
Conclusion The ABO blood type influenced the long-term outcomes of Japanese patients with PC, presumably due to its impact on disease onset and tumor behavior.
Objectives To clarify the significance of ultrasonographically recorded pancreatic duct dilatation.
Methods Various parameters predicting pancreatic disease were evaluated in relation to pancreatic duct dilatation using data from medical checkups of healthy examinees.
Results Records of 281,384 subjects were analyzed. Pancreatic duct dilatation (≥3 mm) was determined ultrasonographically in 524 patients (0.19%). Subsequent detailed examinations revealed the presence of pancreatic disease in 24.8% of these patients, including pancreatic cysts (15.6%) and chronic pancreatitis (4.9%). Pancreatic cancer was found in 6 cases (1.3%). Predictive factors of pancreatic diseases in examinees with pancreatic duct dilatation were investigated, and the diameter of the pancreatic duct (p<0.001) and HbA1c (p=0.003) were identified by a multivariate analysis. The diameter of the pancreatic duct (p<0.013), HbA1c (p=0.009), and body mass index (p=0.032) were identified as predictive factors in pancreatic cancer. The diameter of the pancreatic duct (p<0.001), age (p=0.006), and bilirubin (p=0.020) in pancreatic cyst as well as the diameter of the pancreatic duct (p<0.001), white blood cells (p=0.022), HbA1c (p=0.033), and alkaline phosphatase (p=0.043) in chronic pancreatitis were also identified. In patients with pancreatic duct dilatation, the optimal cut-off values were 3.5 mm and 6.1% for the pancreatic duct diameter and age, respectively, based on a receiver operating characteristic analysis.
Conclusion In cases with ultrasonography-determined pancreatic duct dilatation, subsequent detailed examinations of the pancreas were necessary because of the high-prevalence rate of 24.8%. In particular, marked pancreatic duct dilatation (≥3.5 mm) and elevated HbA1c (≥6.1%) strongly suggest the presence of pancreatic diseases.
Endoscopic ultrasound-guided fine-needle aspiration (EUS-FNA) is widely used as a first-line procedure for the definitive diagnosis of pancreatic solid tumor. Adverse events associated with the EUS-FNA procedure include acute pancreatitis, bleeding, infection, and duodenal perforation. Rarely, pancreatic tumors disseminate in the peritoneal cavity or seed in the gastric wall via the biopsy needle tract after EUS-FNA. Such seeding has been noted primarily in cases of adenocarcinomas and has not been associated with solid pseudopapillary neoplasm (SPN), a rare and potentially malignant tumor of the pancreas. This is the first report of a case of tumor seeding in the gastric wall after EUS-FNA of pancreatic SPN.
We present the first case of a Japanese patient with familial hypobetalipoproteinemia (FHBL) caused by a protein-truncating variant in the proprotein convertase subtilisin/kexin type 9 (PCSK9) gene. A 34-year-old woman was referred to our hospital due to her low low-density lipoprotein (LDL)-cholesterolemia (34 mg/dL). She did not have any secondary causes of hypobetalipoproteinemia. Her father and her younger sister also exhibited low LDL cholesterol levels. We identified a protein-truncating variant in the PCSK9 gene (c.1090_1091del/p.Pro364ArgfsTer62) among them. None of them exhibited atherosclerotic cardiovascular diseases nor any other complications associated with low LDL cholesterol, including fatty liver, neurocognitive disorders, or cerebral hemorrhaging.
We herein report a case of congenital long QT syndrome (LQTS) in which the QT interval was prolonged by Takotsubo syndrome (TTS), inducing ventricular fibrillation (VF). The patient was a 55-year-old woman who had been diagnosed with LQTS. Cardiopulmonary arrest occurred while coughing during sleep. VF was observed, and her heartbeat returned after two defibrillations. An electrocardiogram showed marked QT prolongation and large negative T waves. Echocardiography demonstrated hyperkinesis at the base of the left ventricle and akinesis at the apex. As there was no significant stenosis in the coronary artery, she was diagnosed with TTS.
A 46-year-old woman complained of a 10-year history of headache, nausea, a precordial oppressive feeling and shortness of breath on miction. She had noted a marked elevation in her blood pressure after miction using home blood pressure measurement. Her catecholamine levels were less than twice the value of the normal upper limit. Several imaging modalities detected a urinary bladder tumor, and 123I-metaiodobenzylguanidine scintigraphy showed positive accumulation. The diagnosis of urinary bladder paraganglioma was confirmed by partial cystectomy. We must keep in mind that paroxysms and hypertension associated with miction are important diagnostic clues of pheochromocytoma/paraganglioma. Home blood pressure measurement was very useful for detecting hypertension in this case.
Gastrin regulates gastric acid secretion, and gastrin secretion itself is regulated by the negative feedback system of gastric acidity. Autoimmune gastritis (AG) is a disease where parietal cells are destroyed, resulting in decreased acid production and an elevated serum gastrin level. We herein report 2 AG cases with marked hypergastrinemia (>5,000 pg/mL). In both cases, 24-hour gastric pH monitoring showed no time when gastric pH was <2, and immunohistochemistry revealed more than 140 gastrin-positive cells per linear millimeter at the antral mucosa. This is the first report to confirm the relationship between marked hypergastrinemia and G-cell hyperplasia with AG.
We herein report a 50-year-old Chinese woman with Hb Phnom Penh (α117Phe-Ile-α118Thr) showing high or reasonable HbA1c values depending on the type of high-performance liquid chromatography (HPLC) system. A high HbA1c value of 7.5% (HPLC assay: G9) and a reasonable HbA1c value of 5.2% (assay unknown) were observed. Therefore, the patient was refereed to our hospital; the oral glucose tolerance test showed normal glucose tolerance. The HbA1c values measured by an enzymatic assay, immunoassay, and affinity assay, as well as most HPLC assays were within the reference range, whereas those measured by the Tosoh HPLC systems were high.
A 40-year-old Japanese woman presented to our hospital with general fatigue and muscle weakness. She had a history of premature loss of deciduous teeth at 4 years old, her serum alkaline phosphatase (ALP) activity was as low as 91 U/L, and radiologic studies revealed thoracic deformity and sacroiliac calcification. Genetic sequencing revealed a heterozygous c.1559delT mutation in the tissue non-specific alkaline phosphatase gene (ALPL). Based on these findings, she was diagnosed with hypophosphatasia (HPP), and treatment with asfotase alfa, a recombinant human tissue-nonspecific alkaline phosphatase (TNSALP), was initiated. After six months of treatment with asfotase alfa, improvements were observed in the SF-36 score, six-minute walk distance, and grasping power. Although the overdiagnosis needs to be avoided, HPP should be considered in patients with undiagnosed musculoskeletal symptoms and a low serum ALP activity.
Tofacitinib is a new small-molecule inhibitor of the JAK/STAT signaling pathway used to treat rheumatoid arthritis. We herein report a case of IgA vasculitis apparently caused by tofacitinib. A 67-year-old woman with rheumatoid arthritis developed IgA vasculitis after taking tofacitinib for 6 months. She presented with proteinuria and purpura of the lower extremities. Biopsy specimens from her skin and kidney were compatible with IgA vasculitis. Following termination of tofacitinib, the patient completely recovered from the IgA vasculitis. Drug-induced IgA vasculitis has been previously described for anti-tumor necrosis factor-(TNF)α therapies, but this is the first report of this adverse effect with anti-JAK therapy.
Osimertinib is the standard therapy for epidermal-growth-factor-receptor (EGFR)-mutant lung cancers. We herein report a case of osimertinib-induced interstitial lung disease (OsiILD) with an organizing pneumonia (OP) pattern and provide a literature-based review. Six months after osimertinib administration, a 75-year-old woman with right pleural carcinomatosis developed ILD with an OP pattern. After salvage chemotherapy, osimertinib with corticosteroid was successfully re-administered. A literature review suggested that 1) OsiILD with an OP pattern was rare but should be recognized, and 2) re-administration of osimertinib in OsiILD was successful in select patients. A criterion that determines whether a patient would benefit from re-administration is warranted.
Nivolumab exerts therapeutic activity in patients with classic Hodgkin's lymphoma (CHL) but may cause several types of immune-related adverse events. Some rheumatoid arthritis (RA) patients develop CHL during methotrexate therapy (MTX-CHL); however, the efficacy and safety of nivolumab for these patients remain unclear. A 68-year-old woman was diagnosed with CHL after six years of MTX therapy for RA. The disease did not respond to any type of chemotherapy. Nivolumab was then initiated, and the patient was successfully treated without the reactivation of RA. The reactivation of RA always needs to be considered with the administration of nivolumab.
Dysgeusia is rare in Guillain-Barré syndrome, particularly as the initial symptom. We herein report the case of a 59-year-old woman who presented with only dysgeusia as the initial symptom of Guillain-Barré syndrome, followed by gradually worsening muscle weakness and bilateral sensory disturbances in the extremities. Her dysgeusia was so unpleasant that she could not eat anything, so she received nasogastric tube feeding without dysphasia. We speculate that the dysgeusia in our patient was mainly caused by inflammation of the chorda tympani nerves. Guillain-Barré syndrome should be considered a possible cause of acute dysgeusia.
Heterozygous mutations in KIF1A have been reported to cause syndromic intellectual disability or pure spastic paraplegia. However, their genotype-phenotype correlations have not been fully elucidated. We herein report a man with autism and hyperactivity along with sensory disturbance and spastic paraplegia, carrying a novel de novo mutation in KIF1A [c.37C>T (p.R13C)]. Autism and hyperactivity have only previously been reported in a patient with c.38 G>A (R13H) mutation. This case suggests that alterations in this arginine at codon 13 might lead to a common clinical spectrum and further expand the genetic and clinical spectra associated with KIF1A mutations.
Autoimmune encephalitis associated with autoantibodies to the gamma-aminobutyric acid B receptor (GABABR-AE) typically involves limbic symptoms with limbic abnormalities visible in brain magnetic resonance imaging (MRI). We herein report a case of a 48-year-old man with GABABR-AE whose initial presentation was limited to syncope without limbic symptoms or MRI abnormalities. Interestingly, serial MRI also revealed no abnormalities even after the appearance of limbic symptoms. Our findings suggest that GABABR-AE can initially mimic common syncope and that MRI findings may remain normal throughout the clinical course. Even if patients have normal MRI findings, GABABR-AE should be considered if limbic symptoms worsen.
Treatment of latent tuberculosis infection (LTBI) reduces the probability of reactivation of tuberculosis associated with anti-tumor necrosis factor (TNF) α inhibitors, but no chemoprophylaxis is completely protective. We herein report a woman with rheumatoid arthritis who developed disseminated tuberculosis with intestinal involvement during adalimumab administration despite LTBI treatment. Tuberculosis reactivation was not detected in sputum or urine but was detected from the terminal ileal mucosa. Detection of intestinal tuberculosis is rare in patients being treated with anti-TNFα therapy after LTBI treatment. As anti-TNFα inhibitors have become more common, the rate of reactivation of tuberculosis, including intestinal tuberculosis, has increased in patients being treated for LTBI.
We herein report a case of breast cancer in a 74-year-old woman treated with exemestane as fourth-line hormonal therapy and bone-modifying agents for long time. She suddenly developed a right femoral shaft fracture during treatment. Her femoral fracture had a beaking sign on radiogram. Given this finding, her fracture was ultimately diagnosed as atypical femoral fracture (AFF). In this case, it was difficult to recognize the difference between groin pain as a prodromal symptom of AFF and that due to an adverse reaction to hormonal therapy. Therefore, clinicians should recognize the difficulty of this differentiation and consider the situation with caution.
A 62-year-old Japanese woman developed numbness of the extremities and megaloblastic anemia. She had undergone total abdominal hysterectomy, whole-pelvis radiation therapy and chemotherapy for gynecological cancer 10 years before. Chronic abdominal pain, diarrhea and intermittent small-bowel obstruction had afflicted her for a long time. We diagnosed her with vitamin B12 deficiency anemia and polyneuropathy due to chronic radiation enteritis causing malabsorption. Vitamin B12 injections improved her numbness and anemia. The early diagnosis and treatment of deficiency of vitamin B12 are important. Physicians should regularly measure vitamin B12 levels and supplement vitamin B12 as needed in patients with chronic radiation enteritis.