Connective tissue diseases (CTDs), also known as systemic autoimmune diseases, involve a variety of autoantibodies against cellular components. An important factor regarding these autoantibodies is that each antibody is exclusively related to a certain clinical feature of the disease type, which may prove useful in clinical practice. Thus far, more than 100 types of autoantibodies have been found in CTDs, and most of their target antigens have been identified. Many of these autoantigens are enzymes or regulators involved in important cellular functions, such as gene replication, transcription, repair/recombination, RNA processing, and protein synthesis, as well as proteins that form complexes with RNA and DNA. This article reviews the autoantibodies for each CTD, along with an assessment of their clinical significance, and provides suggestions regarding their utilization for clinical practice.
Objective Esophageal mucosal breaks are considered to occur circumferentially in locations with high exposure to acid. In the present study, we investigated the circumferential localization of esophageal mucosal breaks based on their distance from the esophagogastric junction.
Methods The vertical and circumferential localization of 625 esophageal longitudinal mucosal breaks was examined in 398 patients with mild reflux esophagitis.
Results The number of mucosal breaks in which the distal end was located 0-1 cm from the esophagogastric junction was 454, while those in which the distal end was located 1-2, 2-3, and >3 cm from the junction were 125, 28, and 18, respectively. There was a marked difference in the circumferential distribution among the groups defined by distance from that junction. Esophageal mucosal breaks whose distal end were located 0-1 cm from the esophagogastric junction were mainly found on the right anterior wall of the esophagus, while those located 1-2 cm from the junction were mainly found on the right wall, and those located 2-3 and >3 cm from the junction were mainly found on the posterior wall.
Conclusion Esophageal mucosal breaks occurring relatively near the esophagogastric junction mainly exist on the right anterior wall, whereas those farther from that junction tend to exist on the posterior wall of the esophagus. The circumferential location of esophageal mucosa highly exposed to refluxed gastric contents changes based on the distance from the esophagogastric junction.
Objectives The clinical characteristics in patients with catheter-induced spasm in the proximal right coronary artery (RCA) are controversial. We performed a clinical analysis of catheter-induced spasm in the RCA.
Methods We retrospectively analyzed 5,296 consecutive patients who underwent diagnostic or follow-up angiography during a 26-year period. During this period, we found 40 patients with catheter-induced spasm in the RCA. We compared the clinical characteristics and procedures of cardiac catheterization in patients with catheter-induced spasm in the RCA with those in patients without such spasm.
Results The frequency of catheter-induced spasm in the RCA was 0.75% (40/5,296). We performed pharmacological spasm provocation tests in 36 of 40 patients after spasm relief. Positive spasm was observed in 32 patients (88.9%), and 25 patients (78.1%) had multiple spasms. The catheter procedures, including the approach sites (radial/brachial/femoral), catheter size (4/5/6Fr) and catheter type (Judkins right/Sones/Shared/Judkins left 3.5/Amplatz) were not markedly different between the two groups. A multivariate analysis showed that positive spasm [odds ratio (OR): 7.030, 95% confidence interval (CI): 1.920-25.700], a younger age (OR: 0.937, 95% CI: 0.910-0.965) and diabetes mellitus (OR: 0.278, 95% CI: 0.083-0.928) were the determinant factors for the catheter-induced spasm.
Conclusion Approximately 80% of patients with catheter-induced spasm in the proximal RCA had coronary spastic angina. Positive provoked spasm was the most powerful determinant factor for catheter-induced spasm.
Objective This case series aimed to identify the clinical and pathological characteristics of elderly patients (≥60 years) with biopsy-proven IgA vasculitis with nephritis (IgAVN).
Methods The clinical and pathological presentation and treatment outcomes were compared between two groups.
Patients Patients with IgAVN who were ≥19 years old at the time of their renal biopsy were divided into elderly (≥60 years) and adult (19-59 years) groups.
Results Of the 23 patients in our study, 13 were elderly. In the elderly group, the median age at the diagnosis was 68 years (range, 60-85 years), with a median follow-up period of 15 months (range, 3-80 months). Twelve elderly patients had comorbidities, including hypertension, diabetes mellitus, chronic kidney disease, cardiovascular disease, and malignancies. A decrease in the estimated glomerular filtration rate, as well as massive proteinuria and rapidly progressive nephritic syndrome, were more frequent in the elderly group than in the adult group. Furthermore, renal pathological changes, including cellular or fibrocellular crescents, interstitial fibrosis, tubular atrophy, and arteriosclerosis, were more severe among elderly patients than adult patients. All elderly patients were treated with glucocorticoids and had no incidence of end-stage renal disease at the final follow-up; in addition, nine elderly patients had reduced proteinuria with a preserved renal function. Adverse events, including infection, diabetes mellitus, and vascular disorders, were identified in nine patients. Three elderly patients died from severe infections.
Conclusion IgAVN in elderly patients is characterized by severe renal involvement. Elderly patients are at higher risk than adults for treatment-related adverse events.
Objective This study was performed to determine the usefulness of a newly developed spirometer for the quantitative assessment of dynamic lung hyperinflation (DLH) following incremental hyperventilation in chronic obstructive pulmonary disease (COPD).
Methods The subjects were 54 patients with COPD and 25 healthy volunteers. Each subject was asked to hyperventilate for 30 seconds with stepwise increments starting at the resting respiration rate and increasing to respiratory rates of 20, 30, and finally 40 breaths/min while using a newly developed spirometer. The relationship between the observed inspiratory capacity (IC) reduction following incremental hyperventilation as an index of DLH and spirometry or the 6-minute walking distance was examined.
Results The IC did not decrease significantly from the resting IC, even when the respiratory rate was increased, in the healthy volunteer group. However, in the COPD patient group, the IC decreased with increases in the respiratory rate. Significant correlations were found between all IC parameters and the severity of COPD. A significant negative correlation was also found between the decreased IC and the 6-minute walking distance.
Conclusion These findings suggest that the quantitative assessment of DLH following incremental hyperventilation using the newly developed spirometer may be useful for the assessment of pathophysiological impairment in patients with COPD.
Objective A lung sound analysis (LSA) is useful for detecting airway inflammation and obstruction in patients with asthma. To elucidate the mechanism of LSA, we investigated the relationship between the exhalation-to-inhalation sound pressure ratio in the low frequency range between 100 and 195 Hz (E/I LF) and the respiratory cycle dependence of impulse oscillometry (IOS) parameters.
Methods Asthma patients underwent IOS [resistance of the respiratory system at 5 Hz (R5) and 20 Hz (R20), the reactance area (AX), resonant frequency of reactance (Fres), and reactance of the respiratory system at 5 Hz (X5) ], spirography, and an LSA. The correlation between the LSA-derived E/I LF values and the respiratory cycle dependence of the IOS parameters was analyzed.
Patients Thirty-four patients with mild to moderate bronchial asthma, who had not received oral or inhaled corticosteroids and who had no episodes of rumbling or wheezing were examined.
Results The E/I LF value was significantly correlated with the differences of the R5 and R5-R20 values between exhalation and inhalation (p=0.035 and p=0.050) in a multivariate analysis.
Conclusion E/I LF appears to be an index that expresses the respiratory cycle dependence of asthma as well as IOS.
Objective Bath-related sudden cardiac arrests frequently occur in Japan. This study aimed to describe the actual incidence and characteristics of bath-related accidents, including non-fatal events, and to establish the etiology of bath-related sudden cardiac arrest.
Methods This prospective cross-sectional observational study was conducted in Tokyo Metropolis and Saga and Yamagata Prefectures between October 2012 and March 2013. Emergency personnel enrolled events in this study when they recognized that activation of the emergency medical system was related to bathing. Surveillance cards were delivered and collected from the emergency personnel and attending physicians.
Results In total, 4,593 events were enrolled (1,528 cardiac arrests, 935 survivors in need of help, 1,553 patients with acute illnesses, and 577 patients with injuries) in this study. In the group of survivors in need of help and with acute illness, consciousness disturbance and lethargy without any organic disease were recognized as the main symptoms. Acute coronary syndrome and stroke were infrequently diagnosed. Of the survivors, 30% had a body temperature above 38°C. Their consciousness level significantly correlated with their body temperature. Emergency personnel reported that 79% of sudden cardiac arrests were from victims whose faces were submerged in the tub water, while 18% of survivors had their faces submerged in the tub water.
Conclusion This study revealed that accidents, including non-lethal events, frequently occur. The key symptoms were consciousness disturbance and lethargy characterized as a functional disorder and accompanied by an elevated body temperature. Those findings suggest that heat illness during hot water immersion causes drowning.
Anisakiasis involves the stomach in most cases and occurs rarely in the small intestine. Anisakiasis in the small intestine is associated with abdominal pain and obstruction and is rarely associated with intestinal bleeding. Unlike in the stomach, anisakiasis in the small intestine is difficult to diagnose anatomically. The patient in this case study developed hypovolemic shock due to excessive bleeding and underwent emergency surgery. With the recent increase in the consumption of raw fish around the world, this report provides an important finding of bleeding in the small intestine due to an unknown cause.
Abatacept, a cytotoxic T lymphocyte antigen-4 immunoglobulin recombinant fusion protein, is an immunosuppressive agent indicated for rheumatoid arthritis. Although no significant increase in malignancy has been reported in abatacept-treated patients, whether or not abatacept accelerates tumor progression in specific cancer types remains unclear. We herein report a 66-year-old woman who showed unusually rapid progression of hepatocellular carcinoma following abatacept therapy for rheumatoid arthritis. Abatacept was speculated to have accelerated her hepatocellular carcinoma progression in the setting of her preexisting risk factors: autoimmune hepatitis and long-term methotrexate use. We propose close tumor surveillance be performed during abatacept therapy, especially for high-risk patients.
Right subclavian artery dissection was detected in a 78-year-old female victim of the Kumamoto earthquake during a carotid artery ultrasound examination. She was subsequently taken to hospital and diagnosed with localized subclavian artery dissection (LSAD) by contrast-enhanced computed tomography. There have been no previous reports of LSAD detected at a medical checkup. LSAD may progress and become severe, even in asymptomatic patients or patients with mild symptoms, and careful long-term follow-up is therefore required in all patients diagnosed with LSAD.
The association between sacroiliitis and tubulointerstitial nephritis has not been reported. A 28-year-old man with a history of clinically diagnosed ulcerative colitis (4 years earlier) and sacroiliitis (6 months earlier) developed renal dysfunction 9 months ago, which progressed thereafter. We diagnosed him with tubulointerstitial nephritis by a renal biopsy, for which we started steroid therapy. Subsequently, his renal dysfunction, sacroiliitis, and enteritis partially improved. A pathological analysis of the kidney and intestine revealed lymphocyte infiltration and non-caseating granuloma in both organs. The similarities in the pathological findings and treatment response suggested a pathogenetic association between tubulointerstitial nephritis, enteritis, and sacroiliitis.
We encountered a patient with autosomal dominant polycystic kidney disease (ADPKD) complicated with emphysematous polycystic renal infection (EPRI). A 44-year-old woman visited our hospital for a fever, appetite loss, and gross hematuria. Because the patient was suffering from end-stage renal disease (ESRD), she was immediately hospitalized for hemodialysis. Multiple emphysematous infected cysts were noted in the right kidney, and antibiotic therapy and three rounds of cystic drainage were performed. However, the patient did not respond to treatment. Therefore, laparoscopic right nephrectomy was performed. ADPKD with comorbid EPRI is unresponsive to conservative treatment, and we believe that nephrectomy should be considered.
A 44-year-old man who received allogenic hematopoietic stem cell transplantation after being diagnosed with acute myeloid leukemia developed nephrosis when the dose of tacrolimus was tapered. A renal biopsy showed the granular deposition of immunoglobulin G in the glomerular basement membrane and subepithelial electron-dense deposits, crescent formation, C4d-positive staining of the peritubular capillary, and subendothelial swelling, suggesting that the main pathological diagnosis was membranous nephropathy and that chronic graft-versus-host disease played a role in the etiology of nephrosis. We herein report a case of membranous nephropathy with various pathological findings. C4d deposition suggests complement activation and the involvement of humoral factors.
Lung abscess is usually treated with long-term antibiotic therapy. Due to the lack of a safe and easy drainage technique, drainage is only applied in refractory cases. We herein describe three cases in which drainage was successfully performed by endobronchial ultrasonography using a modified guide sheath. This procedure may have advantages in the detection of causative pathogens and early infection source control, and may therefore lead to the appropriate selection of antibiotics and reduce the duration of antibiotic therapy.
A 70-year-old woman was referred to our hospital after a nodular shadow was noted on chest X-ray. Chest computed tomography showed a pulmonary mass in the right upper lobe, and brain magnetic resonance imaging revealed a right-sided frontal lobe tumor. A histological examination of a transbronchial lung biopsy specimen revealed adenocarcinoma with epidermal growth factor receptor mutations involving both exon 19 deletion and exon 20 insertion. After stereotactic radiotherapy for brain metastasis, the patient was treated with afatinib, which resulted in a complete response. We observed a case in which a patient had non-small cell lung cancer with compound EGFR mutations involving both exon 19 deletion and exon 20 insertion mutations that responded well to afatinib therapy.
A 58-year-old Japanese woman complained of unstable gait and dizziness lasting for a month. She had been diagnosed histologically with pulmonary and cutaneous sarcoidosis and attended outpatient clinics for routine checkups. Head computed tomography and magnetic resonance imaging (MRI) indicated obstructive hydrocephalus caused by a contrast-enhanced lesion in the cerebral aqueduct. The patient underwent endoscopic third ventriculostomy and a biopsy of the lesion, leading to the diagnosis of neurosarcoidosis. This was a rare case of neurosarcoidosis presenting with obstructive hydrocephalus that was treated with endoscopic third ventriculostomy and diagnosed histologically via an intraoperative biopsy.
Werner syndrome (WS) confers a high risk of the development of neoplasias, including hematological malignancies, and curative treatment for these malignancies is difficult to achieve. A 44-year-old man with myelodysplastic syndrome was admitted to our hospital. He was diagnosed with mutation-proven WS. He underwent cord blood transplantation (CBT) following fludarabine, busulfan, and melphalan administration. A chimerism analysis of his marrow blood on day 62 showed a donor pattern >95%, which confirmed engraftment. The patient lived for 15 months while maintaining remission of MDS without treatment-related toxicity. Our case shows that CBT can be a treatment modality for WS patients with hematological malignancies.
Tumor emboli due to a sarcoma are usually confirmed by an autopsy or operative findings. A sarcoma embolus in an acute stroke patient is rare. We herein report a 37-year-old man with acute stroke caused by internal carotid artery occlusion who underwent embolectomy. A histopathological analysis of an embolus obtained with a mechanical retriever device was diagnosed as undifferentiated sarcoma. This is the first case of extracardiac sarcoma extraction via mechanical retrieval performed during intervention for acute ischemic stroke. A histopathologic evaluation with embolectomy is important for diagnosing tumor emboli.
Peripheral neuropathy is a common extracerebellar manifestation of spinocerebellar ataxia type 3 (SCA3). However, to date, only a few SCA3 case reports have described the development of neuropathy before the emergence of apparent cerebellar signs. We herein report a case of very late-onset SCA3 in which preceding peripheral neuropathy seemingly concealed cerebellar signs, with seven years lapsing from the onset to the diagnosis. Horizontal gaze-evoked nystagmus and brain magnetic resonance imaging (MRI) findings prompted genetic testing, which confirmed the diagnosis of SCA3. A careful follow-up of neurological findings, such as nystagmus, and brain MRI are imperative for such cases.
The cervical carotid artery has been reported to show anatomical variations. We report the case of a young stroke patient with a small right-parietal-lobe infarction whose cervical carotid artery showed anatomical variation. The right internal carotid artery (ICA) originated at the C2 level of the external carotid artery with protrusion at the right carotid bifurcation. The vessel wall of the protrusion showed a high signal intensity on T1-weighted magnetic resonance carotid plaque imaging. The protrusion, considered a remnant of the ICA, possibly caused the stroke due to the formation of thrombi as a result of changes in blood flow and viscosity.
A 55-year-old male presented with abdominal pain that had begun about 5 days ago. Physical examination revealed oral aphtha, genital aphthosis, and pseudofolliculitis, and the patient was diagnosed with incomplete Behçet's disease (BD). Contrast-enhanced computed tomography (CECT) showed dilation of the superior mesenteric artery and mesenteric infiltration of inflammation, indicating vasculo-BD. The symptoms were improved by 3-day of intravenous methylprednisolone pulse therapy followed by oral prednisolone. A literature review suggested that vasculo-BD should be included as a differential diagnosis in cases with unexplained abdominal pain, arterial dilation, and mesenteric invasion, and CECT examination and steroid therapy should be considered.
Gastric antral vascular ectasia (GAVE) is a rare cause of chronic gastric hemorrhaging and iron deficiency anemia and is characterized by a distinctive endoscopic appearance. The main treatment of GAVE is endoscopic; however, medication is necessary in refractory cases. We herein report a 69-year-old woman with systemic sclerosis (SSc) who developed recurrent severe anemia after endoscopic treatment of GAVE that was successfully managed using intravenous cyclophosphamide (IVCY). The recurrence of GAVE after discontinuation of IVCY was successfully managed using a combination of IVCY and endoscopic treatment, without blood transfusion. Long-term IVCY may be indicated for refractory GAVE associated with SSc.