Objective Partial expiratory flow-volume curves have the potential to detect mild bronchoconstriction because they are not affected by the modulatory effects of deep inspiration. The aim of this study was to investigate the relationship between the efficacy of bronchodilator therapy (BDT) in treating the cough and to assess the increase in the expiratory flow of the partial flow-volume curve at 40% above the residual volume level (PEF40) caused by treatment with a short-acting beta-2 agonist (SABA) in patients with chronic nonproductive cough. Methods We measured the reversibility of PEF40 caused by a SABA in 42 patients with chronic nonproductive cough at visit 1 (day 0). The patients received BDT for six days. The visual analogue scale (VAS) was used to assess the efficacy of BDT in treating coughing at visit 2 (day 7) (0 mm, 'no cough;' 100 mm, 'no change in coughing'). Results Reversibility of the PEF40 was correlated (r=0.690, p<0.001) with the VAS score determined at visit 2 and was higher in the patients with cough variant asthma (CVA) (44.9±18.3%) than in those with atopic cough (13.4±10.4%) (p<0.01). Conclusion Reversibility of the PEF40 predicted the efficacy of BDT in patients with chronic nonproductive cough and helped to identify patients with CVA.
Objective Pure red cell aplasia (PRCA) is a rare clinical entity characterized by anemia due to severe suppression of erythroid precursors, where the other cell lineages in the bone marrow remain morphologically normal. A standard treatment has not yet been established for PRCA due to the rarity of this condition. Recently, however, the administration of either cyclosporine (CSP) or prednisolone (PSL) has been reported to be an effective treatment for PRCA. Methods To clarify the clinical characteristics of PRCA, 11 PRCA cases were retrospectively analyzed over a 13-year period at our institution. Since acute PRCA was found to be self-limiting, we administered the immunosuppressive treatment of CSP or PSL after providing supportive care for 4 weeks. Results The causes of PRCA were as follows: idiopathic (3), acute parvovirus infection (1), chronic parvovirus infection (3), thymic tumor (3), and end-stage renal disease with hemodialysis (1). Complete remission (CR) was achieved for 4 of the 5 patients treated with CSP, for 2 of the 3 patients with chronic parvovirus infection treated by immunoglobulin (Ig), and for all 3 patients treated with PSL. During the follow-up periods, 4 of the 11 patients relapsed. Complete remission was achieved a second time in all 4 cases by therapies that were more intensive and had longer administration periods than those provided during initial treatment. Consequently, 9 of the 11 patients were still alive (80%) after 5 years. Conclusion Depending on the cause of the PRCA, treatment with CSP, PSL, or Ig was found to be effective in most PRCA cases.
Objective Idiopathic brachial plexopathy is a non-progressive disorder characterized by the sudden onset of shoulder pain associated with weakness and sometimes paraesthesia of the arm. Clinical and electrophysiological examinations are the primary diagnostic tools and allow physicians to localize the site of damage. MRI neurography is rarely performed in this setting. Methods We herein describe the cases of eight consecutive patients suffering from idiopathic brachial plexopathy. All patients underwent clinical visits, neurophysiological evaluations and MRI neurography. Results We confirmed the primary role of clinical and neurophysiological evaluations in the diagnosis of idiopathic brachial plexopathy and demonstrate the usefulness of brachial plexus MRI neurography for confirming the presence of inflammatory changes. Conclusion In patients with idiopathic brachial plexopathy, MR neurography is a helpful tool for excluding different aetiologies, such as compression or tumour formation, and/or confirming inflammatory changes.
Objective We retrospectively investigated spinal magnetic resonance imaging (MRI) manifestations at neurological onset in Japanese patients with spinal cord sarcoidosis. Methods Between July 2000 and April 2012, we reviewed our database and recruited patients with spinal cord sarcoidosis. On spinal MRI performed at neurological onset, the following items were evaluated: the vertebral-segment distribution and length of intramedullay T2-elongated lesions, abnormal enhancement patterns and distributions and the concomitant presence of spondylosis and associated extraspinal lesions. If available, brain MRI scans were concomitantly assessed. Results Nine patients were enrolled (four men and five women; median, 49 years). Reflecting Japanese epidemiological backgrounds, a predilection for occurrence was observed in young men and middle-aged women. Intramedullary T2-elongated lesions were present in eight patients, peaking at the C5 level, with a mean length of 3.7±2.6 vertebral segments. Spondylosis coexisted in the middle-aged patients. Abnormal intramedullary enhancement with concomitantly involved the nerve roots was observed in six patients, comprised of two types reflecting the disease progression: linear- and/or nodular enhancement along the surface of the spinal cord and intramedullary enhancement consisting of patchy, broad-based enhancement adjacent to the cord surface. Five patients had associated extraspinal lesions, including lymphadenopathy in four patients and brain involvement in four patients. Conclusion Spinal cord sarcoidosis exhibits a predilection for young men and middle-aged women among Japanese individuals and is characterized by intramedullary T2-elongated lesions spreading more than three vertebral segments peaking at the C5 level, two types of abnormal intramedullary enhancement reflecting disease progression, frequent nerve root involvement and lymphadenopathy.
Solid-pseudopapillary neoplasms (SPN) are rare pancreatic tumors. The etiology of SPN involves mutations in the gene that encodes β-catenin (CTNNB1). We herein report the case of a 23-year-old woman with a large SPN with proliferating tumor cells that displayed both solid and pseudo-papillary patterns. The simultaneous nuclear accumulation and loss of membrane localization of β-catenin and E-cadherin was specifically observed in the tumor cells. Further, the tumor cells were shown to harbor a missense mutation in exon 3 of CTNNB1. We also present a review of the literature describing the clustering of CTNNB1 mutations in patients with SPN.
A 70-year-old man who suffered from chronic hepatitis C was infected with HCV genotype 1 and exhibited a high viral load. He had hypertension and had consumed the equivalent of 50 g of ethanol per day. He was treated with pegylated interferon and ribavirin. After 51 weeks, he developed an unsteady gait while walking and demonstrated Barre's sign on the right foot and a headache. Contrast computed tomography showed a subdural hematoma with a mass effect. The patient was treated with drainage and aspiration surgery via a burr hole. Following the drainage procedure, there were no neurological sequelae. Treatment with pegylated interferon and ribavirin was discontinued. Fortunately, a sustained virological response was achieved.
Primary perivascular epithelioid cell tumors (PEComas) of the pancreas are extremely rare. We herein report our experience with a patient who had a primary PEComa of the pancreas that was diagnosed by the preoperative histopathological examination of a biopsy specimen obtained by endoscopic ultrasound-guided fine-needle aspiration (EUS-FNA). The patient was a 43-year-old woman whose chief complaint was abdominal pain. Imaging studies revealed a pancreatic tumor. Gastrointestinal stromal tumor (GIST), solid pseudopapillary tumor and neuroendocrine tumor were considered in the differential diagnosis. A histopathological examination of a specimen of the tumor obtained using EUS-FNA showed spindle-shaped tumor cells with enlarged nuclei and eosinophilic cytoplasm. The tumor cells proliferated in a sheet-like fashion and stained positive for the melanoma-associated antigen HMB-45. A PEComa was thus diagnosed. If an adequate tumor specimen can be obtained using EUS-FNA, immunostaining may facilitate the diagnosis of extremely rare diseases and therefore assist in deciding the treatment policy.
An anomalous aortic origin of the coronary artery arising from the opposite sinus with an interarterial course is a rare condition that is associated with a high risk of sudden cardiac death during or after strenuous exertion. We herein report the case of a 47-year-old woman presenting with chest pain, syncope and palpitations who presented with a rare coronary artery anomaly on multidetector computed tomography coronary artery (MDCT-CA) with prospective electrocardiogram (ECG) gating.
A 25-year-old Caucasian woman was admitted to our department with severe hypokalemia that was associated with hypercalcemia. An endocrinological investigation showed the coexistence of primary hyperparathyroidism (PHPT) and primary aldosteronism (PA), arising from an adenoma of the left cortical adrenal gland. The patient underwent left laparoscopic adrenalectomy, but refused the surgical neck exploration that would be required for parathyroidectomy. The post-operative course was uneventful, and the patient realized a normalization of her potassium serum level and a reduction of her blood pressure values. We herein report the important issues regarding the management of a severe electrolyte imbalance, in view of the reciprocal interaction between aldosterone and parathyroid hormone, and their combined potential for causing cardiovascular damage.
Most cases of hypoparathyroidism with decreased parathyroid hormone (PTH) secretion, excluding secondary hypoparathyroidism, are considered to be idiopathic. We herein report a relatively rare case of hypoparathyroidism with extrapyramidal symptoms, including brachybasia and a frozen gait, caused by advanced basal ganglia calcification in a 64-year-old man with hypoparathyroidism. A DNA (deoxyribonucleic acid) analysis of blood samples obtained from the patient and his eldest daughter revealed autosomal dominant hypocalcemia (ADH) with mutations in the calcium-sensing receptor (CaSR) gene. In cases of chronic hypoparathyroidism, calcification of the basal ganglia is observed if the patient is not treated for a long period. However, extrapyramidal symptoms as a complication of hypoparathyroidism are relatively rare.
Decreases in blood pressure develop in response to a wide range of clinical disorders. Various factors have been implicated in the development of hemodialysis-associated hypotension, including an impairment of the compensatory processes, an autonomic dysfunction or cardiac failure. The additional presence of concomitant acute abdomen may result in a diagnostically challenging situation. We herein report our experience with a chronic hemodialysis patient who developed severe hypotension with acute flank pain due to spontaneous bleeding around the kidney. Concerns regarding the management of the disease are also discussed.
We herein report the case of a 17-year-old man who developed an increased plasma creatinine level (11.1 mg/dL) and oliguria with massive proteinuria (27.3 g/day) four weeks after an abraded wound to his right knee. The histology of the renal biopsy specimens showed diffuse endocapillary proliferative glomerulonephritis with the deposition of nephritis-associated plasmin receptor in the glomerulus. A case of acute kidney injury due to nephrotic syndrome caused by acute post-streptococcal glomerulonephritis was diagnosed. His renal function and proteinuria were improved with supportive care, including hemodialysis, without the administration of immunosuppressive agents.
A 43-year-old man was admitted with end-stage renal disease caused by IgA nephropathy, and was treated with maintenance peritoneal dialysis. The patient developed general fatigue and appetite loss, and his symptoms were gradually aggravated by depression. After approximately 2 months on dialysis, the patient presented with altered consciousness and ophthalmoplegia. Wernicke's encephalopathy was diagnosed based on the presence of classic symptoms and the findings on magnetic resonance imaging. Thiamine replacement therapy was immediately initiated. The patient recovered from most of his neurological symptoms; however, the sequela of Korsakoff syndrome remained. A marginal thiamine deficiency in combination with predisposing factors must be considered when treating dialysis patients.
A 79-year-old woman with familial hyperlipidemia was treated with low-density lipoprotein apheresis. She was hospitalized due to fatigue and edema, and massive proteinuria was discovered. Renal biopsy revealed no distinct abnormalities, thus suggesting a diagnosis of minimal change nephrotic syndrome. She developed acute kidney injury and hemodialysis was initiated. Two series of steroid pulse therapy were given, but the proteinuria did not decrease. Thereafter, she developed thrombocytopenia and fell into a stupor. Thrombotic microangiopathy (TMA) was the most likely diagnosis. Plasma exchange was initiated, resulting in improvements in platelet counts and in her level of consciousness. Clinicians should therefore be aware that TMA can occur as a result of steroid pulse therapy.
The full picture of immunoglobulin G4-related lung disease (IgG4-RLD) has not yet been elucidated. A 69-year-old man was referred to us with a more than 2-week history of productive cough and fatigue. Chest CT showed an airspace consolidation along the bronchovascular bundles. The pathological findings that were obtained from an open-lung biopsy showed both organizing pneumonia and interstitial pneumonia. Based on the established, comprehensive diagnostic criteria for IgG4-related disease (RD) as of 2011, this patient was given a definitive diagnosis of IgG4-RD. A further accumulation and analysis of those cases that concomitantly present with both IgG4-RLD and organizing pneumonia, like our patient, may contribute to the elucidation of the pathology of IgG4-RLD and the establishment of the disease spectrum.
Solitary extramedullary plasmacytoma (SEP) is a plasma cell neoplasm that develops outside of the bone marrow. A solitary, exophytic growth in the airway is an extremely rare presentation of SEP. We herein report a case of SEP presenting as an endobronchial mass. The tumor was treated by rigid bronchoscopic debulking followed by ablation using argon plasma coagulation. However, the tumor could not be completely removed due to its wide base. Adjuvant radiotherapy was administered as the curative therapy. A biopsy was performed on the resected specimen and the diagnosis of plasmacytoma was thereby confirmed.
A 38-year-old man with Marfan syndrome underwent an aortic replacement with an artificial aortic valve at 27 years of age and an aortic graft at 31 years of age. In 2011, he was diagnosed as having chronic necrotizing pulmonary aspergillosis (CNPA). He developed a fever and an increased sputum volume and was admitted to the hospital in 2012. Contrast-enhanced CT showed an irregularly shaped nonenhanced structure in the aortic graft. He died on hospital day 31. From the autopsy findings, we speculated that an infiltration by the CNPA lesion into a pulmonary vein was followed by the hematogenous formation of a fungus ball in the aortic graft.
We herein report a case of late-onset Huntington's disease (HD) that presented without any involuntary movement. The patient was in her forties at onset, and she lacked any rigidity; thus, the HD in this case was completely different than the Westphal variant. The diagnosis was made by confirming the expansion of CAG repeats in the HD gene after obtaining information about her sister's clinical features, since her sister presented with typical HD. In late onset HD, involuntary movement is thought to be the core feature; therefore, the clinical features of this case are considered to be unique and noteworthy.
We used ramelteon to treat two patients with secondary REM sleep behavior disorder (RBD) complications along with neurodegenerative diseases including multiple system atrophy and Parkinson's disease. These two patients not only improved in terms of their clinical RBD symptoms but also exhibited a decrease in the proportion of REM sleep without atonia (from 8.5% to 3.5% and from 10.9% to 3.9% in the two patients). Although clonazepam is the standard first-line therapy for the treatment of RBD, ramelteon might be an effective treatment alternative in patients with RBD who cannot take clonazepam due to either ineffectiveness or adverse effects.
We herein report a 53-year-old female with repeated transient ischemic attack (TIA) symptoms including 13 instances of right hemiparesis that decreased in duration over 4 days. Two separate examinations using diffusion weighted image (DWI) in magnetic resonance imaging (MRI) revealed normal findings, but we observed that both Babinski and Chaddock signs were completely synchronized with her right hemiparesis. We were only able to diagnose this case of early stage TIA using clinical signs. This diagnosis was confirmed 4 days after the onset by the presence of abnormalities on the MRI. DWI-MRI is generally useful when diagnosing TIA, but a neurological examination may be more sensitive, especially in the early stages.
A 23-year-old man was referred to our Emergency Department due to an acute-onset hemoptysis and the associated bilateral swelling of all of his major salivary glands. The elevated levels of systemic inflammatory markers with hypereosinophilia and the concurrent presence of multiple lung infiltrates made it difficult to perform a differential diagnosis, as these symptoms can also be indicative of infectious, autoimmune or hematologic disorders. A histological examination of the patient's left submandibular gland revealed strong clues as to the final diagnosis of eosinophilic granulomatosis with polyangiitis with an atypical clinical presentation, thus allowing for the administration of early and successful conservative therapy. The outcome of our case suggests that systemic vasculitis represents a rare but possible cause of acute bilateral sialadenitis in young patients.
A 55-year-old woman visited our hospital for an investigation of central bronchiectasis, mucoid impaction and infiltrative shadows on chest CT. She had a 10-year history of bronchial asthma; however, her adherence to treatment was poor. Based on the presence of peripheral blood eosinophilia and immediate cutaneous reactivity to Aspergillus fumigatus, the patient was clinically diagnosed with allergic bronchopulmonary aspergillosis. Her condition and CT findings improved with systemic corticosteroid therapy. It was found that the patient had not been sensitized to Aspergillus 10 years earlier, indicating that single testing is inadequate for the early diagnosis of this disease.
We herein report the case of an 85-year-old woman presenting with right internal jugular vein candidal thrombophlebitis associated with central venous catheters (CTCVC). The infecting agent was Candida albicans, which caused recurrent candidemia five times in total. Micafungin (MCFG) alone was ineffective; however, the combination of MCFG with fosfluconazole (F-FLCZ) successfully treated the patient without a need for any anticoagulant or surgical therapies. To the extent of our knowledge, this is the first report of CTCVC being successfully treated with a combination of F-FLCZ and MCFG. These new antifungal agents have better efficacy, tolerability and bioavailability; therefore, they can be useful alternatives to classical combination therapies such as amphotericin-B and 5-fluorocytosine.
Systemic infection caused by G. haemolysans has rarely been reported. We herein describe the case of a 69-year-old woman with recurrent G. haemolysans meningitis that led to abducens nerve palsy. Osteomyelitis of the clivus was likely present at the first admission, which led to reinfection of the meninges because the course of antibiotic treatment was too short. The patient has remained free of relapse for one year after undergoing a second round of treatment that lasted 63 days. In cases of G. haemolysans meningitis, coexisting infectious diseases, such as endocarditis and/or osteomyelitis, should therefore be investigated to prevent recurrence.
A 45-year-old man was referred to our hospital with a 3-month history of dyspnea, polyarthralgia, myalgia and weight loss. He was diagnosed with systemic lupus erythematosus/dermatomyositis overlap syndrome with lung involvement, which presented as organizing pneumonia. However, a bronchoscopic examination revealed the presence of multiple plaque-like white lesions with ulcers on the bronchial membrane, located mainly in the central airway. The pathological specimens obtained from bronchoscopy showed numerous filamentous fungal hyphae that were aggressively invading the bronchial walls, suggesting a diagnosis of invasive tracheobronchial aspergillosis. The present case, along with a review of the literature, demonstrates that invasive tracheobronchial aspergillosis can occur in patients who do not appear to be immunosuppressed. This case of aspergillosis should thus be recognized as an extremely rare presentation of an Aspergillus infection.