A case of mixed connective tissue disease successfully treated for hemophagocytic syndrome with intermittent intravenous injection of cyclophosphamide]

A 52 year-old woman noticed general fatigue, polyarthralgia, and muscle weakness of lower extremities in October 2001. In December, she felt difficulty in walking due to muscle weakness. In January 2002, she admitted another hospital because of dyspnea on exertion and edema of lower extremities. Laboratory test revealed leukocytopenia, the elevation of creatine kinase and positive anti-U1-RNP antibodies. Her chest computed tomography (CT) showed severe interstitial pneumonia. Cardiac echogram revealed that she had pericardial effusion and pulmonary hypertension. Then she was transferred to Keio University Hospital and she was diagnosed as having mixed connective tissue disease (MCTD) manifestating myositis, interstitial pneumonia, pulmonary hypertension and pericarditis. Prednisolone (PSL) 60mg daily following to methylprednisolone (mPSL) pulse therapy was begun and her symptoms were gradually improved. In middle of February, she complained of high fever over 39.0 degrees C. Bacterial culture tests were negative and laboratory data indicated pancytopenia and a high level of serum ferritin. Bone marrow aspiration revealed hemophagocytosis in bone marrow specimens and she was diagnosed as having hemophagocytic syndrome associated with MCTD. mPSL pulse therapy was not effective and intermittent cyclophosphamide pulse therapy (IV-CY) was performed resulting in improvement of the symptoms. This case suggested the effectiveness of IV-CY therapy in patients with corticosteroid-resistant HPS associated with connective tissue diseases.     

A case of meningeal carcinomatosis with gastric cancer which manifested meningeal signs as the initial symptom; the palliative benefit of radiotherapy

A 53-year-old male presenting with anorexia, intermittent diplopia, general fatigue, headache and vertigo was admitted to our hospital. He was diagnosed as having gastric cancer by endoscopy of his upper gastrointestinal tract. Brain computed tomography (CT) showed no abnormalities, but magnetic resonance imaging (MRI) showed slight enhancement in the cerebellar sulcus. Cytological examination of cerebrospinal fluid revealed malignant cells. He became blind one week after hospitalization. We diagnosed his condition as meningeal carcinomatosis (MC) and started radiotherapy. His vision improved after four weeks of treatment, and then he became totally blind again. Since his general condition remained poor, we did not perform chemotherapy. He died on the 127th day of hospitalization. MC is a rare pathosis of gastric cancer in comparison with leukemia and malignant lymphoma. This disease does not often show characteristic pictorial images, and early diagnosis is difficult. Moreover, it usually manifests itself in its late stages after several months or more of treatment, and it is rare for MC to be present at the time of initial diagnosis. We present a case of gastric cancer with meningeal signs present when the primary tumors were diagnosed. Radiotherapy alleviated some of the symptoms, and the patient survived for as long as patients undergoing enforced chemotherapy.     

Carnitine deficiency

We present the case of a female patient, aged 12 years, with fatigability and exertional myalgias, progressively developed within the last two years. Negative family history, as well as negative personal medical history, were found. At physical examination, short stature, proximal muscle weakness and mild hepatomegaly were noted. Urine ketones level was slightly decreased, serum transaminases, creatine kinase and lactate dehydrogenase levels were increased. Electromyographical examination showed a myopathic non-specific pattern. Deltoid muscle biopsy revealed: small, clear vesicles are present on Hematoxylin-Eosin and modified G?m?ri trichrome stains; modified G?m?ri trichrome stain also revealed muscle fibers (especially type I of muscle fibers) having mild to moderate mitochondrial proliferation (red rim and speckled sarcoplasm). The lipid storage has been well demonstrated by Sudan Black stain, which revealed small lipid droplets in type I muscle fibers. Abnormal internal architecture with a punctate pattern was showed by adenine dinucleotide tetrazolium reductase and succinate dehydrogenase stains. Electron microscopy showed small inter-myofibrillar accumulations of round, amorphous, homogeneous acellular substances that are not membrane bounded. These features indicate that these are neutral fat (lipid) droplets. Subsarcolemmal accumulations of mitochondria were also revealed. The differential diagnosis of this case is discussed, and the up to date general data concerning carnitine deficiency are presented. The aim of our case-report is to emphasize the role of muscle biopsy in carnitine deficiency, as well as to remind the necessity of keeping in mind such metabolic disorders when doing the differential diagnostic of a muscular weakness.     

Peripheral nerve and vasculature involvement in myophosphorylase deficiency (McArdle's disease)

A 60 year old white male presented with atypical chest pain and exercise-induced myalgia. Physical examination revealed slight proximal limb muscle weakness and wasting. Serum creatine phosphokinase levels were persistently elevated and electromyography showed changes consistent with a mild myopathy. Light microscopic and ultrastructural study revealed excess free glycogen within skeletal muscle, and histochemical staining showed absence of myophosphorylase activity. Biochemical quantitation confirmed the diagnosis of McArdle's disease by demonstrating absent phosphorylase activity in skeletal muscle with increased glycogen. In addition, increased amounts of free and membrane-bound glycogen were found within axons, Schwann cells, fibroblasts and occasional vascular smooth muscle and endothelial cells that had been included within the skeletal muscle biopsy. This case demonstrates more widespread glycogen accumulation than has been previously reported in McArdle's disease.     

Acute myopathy induced by colchicine in a cyclosporine-treated renal transplant recipient--a case report and review of the literature.

We report a case of colchicine-induced myopathy related to short-term, customary administration of colchicine. A 49-year-old male was admitted because of muscle weakness and myalgia that had developed 10 days previously. He had received renal transplantation 5 years previously and took cyclosporine as an immunosuppressant. Two weeks before admission, gout was developed and he took colchicine (1.2 mg b.i.d) by himself for three days. Colchicine-induced myopathy was clinically suspected, and colchicine intake was stopped immediately. After that, clinical symptoms gradually improved and serum muscle enzyme returned to normal. In this case, mild renal dysfunction and drug interaction between cyclosporine and colchicine wee suggested to be the precipitating factors of colchicine-induced myopathy.     

Dermatomyositis Following BNT162b2 mRNA COVID-19 Vaccination

Dermatomyositis (DM) is one of the uncommon multi-organ idiopathic inflammatory myopathies that has been reported following the hepatitis B, Influenza, tetanus toxoid, H1N1, and BCG vaccines. However, an association with the coronavirus disease 2019 (COVID-19) vaccine is yet to be reported. In this case, we present the case of a 43-year-old Asian Indian female who was diagnosed with DM 10 days after receiving the second dosage of BNT162b2 mRNA COVID-19 vaccination, in the absence of any additional triggering factors. The diagnosis was established based on physical examination, serological antibodies, magnetic resonance imaging of the muscles, skin biopsy, and electromyography. She received standard treatment for DM, including oral high doses of prednisolone, hydroxychloroquine, mycophenolate, and physiotherapy. The treatment successfully reversed skin changes and muscle weakness. This is the first reported case of classic DM complicated by interstitial lung disease following COVID-19 vaccination. More clinical and functional studies are needed to elucidate this association. Clinicians should be aware of this unexpected adverse event following COVID-19 vaccination and arrange for appropriate management.     

Presence of smooth muscle cell differentiation in plexiform angiomyxoid myofibroblastic tumor of the stomach: a case report

Plexiform angiomyxoid myofibroblastic tumor (PAMT) is a recently described distinctive gastric mesenchymal entity with a peculiar plexiform pattern, bland spindle cells and a myxoid stroma rich in arborizing blood vessels. In this study, we report a new case of this rare gastric tumor with a subset of tumor cells derived from smooth muscle differentiation. A 32-year-old Chinese man was admitted with a gastric mass. He did not experience any discomfort, and gastroscopy showed an elevated mass in the anterior wall of the gastric antrum. Endoscopic ultrasound examination revealed a focal hypoechoic lesion protruding into the lumen. A partial gastrectomy was performed, and the patient made an uneventful recovery and remains well 3 years later. The tumor in this case depicted all the typical histopathologic and immunochemical features of gastric PAMT, except that a small subset of tumor cells was partially immunoreactive for desmin and H-caldesmon. Based on the findings of this case, we think that PAMT may contain tumor cells derived from smooth muscle differentiation, and therefore this tumor may be more than just purely myofibroblastic in nature.     

Correlation between serum vitamin D (25(OH)D) concentration and quadriceps femoris muscle strength in Indonesian elderly women living in three nursing homes

AIM: to investigate the correlation between serum vitamin D (25(OH)D) concentration and quadriceps femoris muscle strength. METHODS: this was a cross-sectional correlative study, conducted at three nursing homes in Jakarta and one nursing home in Bekasi in January 2005. The subjects were women aged 60 years or above. Those selected study subjects underwent quadriceps femoris muscle strength examination with Cybex dynamometer with 150 degrees/second speed, twice (three repetitions with 30 second rest time). The 25 (OH)D concentration was measured by ELISA. RESULTS: out of 67 subjects who met the required criteria for this study, five subjects withdrew from the study during muscle strength examination. The mean age was 71.1 (SD 7.2) years old while the mean serum vitamin D concentration was 68.2 (SD 21.6) nmol/l. Vitamin D deficiency (相似文献   

Case of dermatomyositis complicated with massive pleural effusion that preceded the myopathy]

A 36-year-old man was admitted to a hospital with complaints of fever, polyarthralgia and dyspnea. Erythema was observed on his face, extensor surface of the fingers and extremities, and a chest X-ray revealed massive bilateral pleural effusion. He had no sign of myopathy at this point. Pleural fluid was proved to be exudative and contained extremely high levels of hyaluronic acid. He was also complicated with interstitial pneumonitis and was given a pulse therapy with methyl prednisolone followed by daily administration of 55 mg prednisolone (PSL). Twenty days after the commencement of the therapy, pleural effusion decreased but muscle weakness gradually appeared, accompanied by elevation of myogenic enzymes. Myogenic changes on electromyogram, and irregularity of the muscle fibers with slight inflammatory cell infiltrates in a biopsy specimen were demonstrated. He was transferred to our hospital, and a diagnosis of dermatomyositis was made. Later, pleural effusion waxed and waned depending on the dosage of PSL, but no other causative disorder was demonstrated by extensive examinations. This case indicates that the pleuritis could be one of the vasculitic manifestations of dermatomyositis.     

Demonstration of PIVKA-II and AFP production by gastric cancer by indirect immunoenzymatic staining of paraffin sections]

The patient had elevated plasma PIVKA-II and serum AFP levels. However, no tumor was detected with an ultrasonography, angiography, abdominal computed tomography (CT), and magnetic resonance imaging (MR). Gastric endoscopic examination disclosed gastric cancer and then subtotal gastrectomy was done. Shortly after the surgery, both plasma PIVKA-II and serum AFP levels returned to each normal level. The extirpated tumor revealed histologically immature and mature cancer cells. It was pathologically diagnosed as IIc early cancer. The localization of PIVKA-II and AFP in gastric cancer cells was demonstrated by the immunostaining method using monoclonal antibody. Taken together, these results indicate that cancer cells may produce PIVKA-II or AFP in this patient.     

A comparison of haemophagocytic syndrome signs in aortic aneurysm and angina pectoris cases at postoperative death: HPS diagnosis and prediction

Although hemophagocytic syndrome (HPS) signs are more severe in aortic aneurysm cases than in angina pectoris cases, HPS-associated postoperative death should be considered more in both cases. This study analyzed a total of 183 Japanese patients, with 101 aneurysms, 79 anginas, and 3 with both, who underwent aortic replacement (AR) or/and aortocoronary bypass grafting (ACBG) during a period of 1.92 years. In seven aneurysm and eight angina cases with 7.6–12.1 g/dl of hemoglobin (Hb), iron metabolism was studied. As clinical outcomes, diabetes, chronic renal failure (CRF), and thrombosis were more prevalent in the angina cases than in the aneurysm cases. In six cases of aneurysm (6:101) who died after AR, five who died of acute myocardial infarction (AMI) or pulmonary embolism (PE) during postoperative 3–101 days developed HPS, and no detail data was available for one case. Among the five diabetic cases of angina (5:79) who died 7–74 days after ACBG, four cases with cerebral infarction (CI) had infection-associated HPS, and one case had severe kidney atrophy without CI and HPS. Postoperative HPS signs in the aneurysm cases were also generally more severe than those of the angina cases. The aneurysm case with no CRF showed mostly typical HPS and died of AMI. She had pancytopenia, anemia with anisocytosis and nucleated red cells, leukopenia with immature myeloid cells, thrombocytopenia with coagulopathy, elevated lactate dehydrogenase, hyperbilirubinemia, liver dysfunction, and numerous phagocytes containing hemosiderin in the specimen of the aorta examined before the operation. Preoperatively, she also showed high levels of serum ferritin (SF) and low levels of both serum iron (S–Fe) and total iron-binding capacity (TIBC). All the 15 patients in whom iron metabolism was evaluated had low levels of S–Fe. Low levels of TIBC and high levels of SF were observed in 11:15 patients. Cardiac hemophagocytosis with no CRF was a suggestive of HPS. AR and ACBG operations became a direct trigger of HPS. Postoperative AMI, sepsis, and PE became a HPS trigger, but CI alone and CRF did not. For postoperative survival, it was important to protect the patients from infections.     

Des-gamma carboxy prothrombin (PIVKA-II) and alpha-fetoprotein producing gastric cancer with multiple liver metastases

We describe the case of an 87-year-old woman who presented to Tokyo Kousei Nenkin Hospital because of appetite loss and general fatigue. Multiple liver masses and Borrmann type 2 gastric tumor were detected. A clinical diagnosis of hepatocellular carcinoma and gastric cancer was made based on the patient's high levels of serum alpha-fetoprotein (AFP; 490 200 ng/mL) and protein induced by vitamin K absence or antagonist-II (PIVKA-II, 2284 mAU/mL). The patient's general condition worsened gradually and she died 42 days after admission. Autopsy revealed that the predominant histological structure of the gastric tumor was trabecular or sheet-like, although a tubular structure was also found. Venous invasion was prominent. Immunohistochemically, the tumor tissue was positive for AFP and a few tumor cells were positive for PIVKA-II. The histological appearance and immunohistochemical features of the hepatic tumors resembled that of the gastric tumor. This case was pathologically diagnosed as AFP- and PIVKA-II-producing gastric carcinoma with multiple liver metastases. When tumors are found in the stomach and liver and serum PIVKA-II level is abnormally high, the possibility of PIVKA-II-producing gastric cancer with liver metastasis should be considered, especially when hepatitis virus markers are negative and liver cirrhosis is not present.     

IL-1β、IL-6、p53与胃癌组织幽门螺杆菌感染的相关性分析

目的 探讨IL-1β、IL-6、p53与胃癌组织幽门螺杆菌(Hp)感染的相关性.方法 选取2016年6月至2017年10月期间我院收治的100例胃癌患者,根据检查结果Hp阳性有89例,Hp阴性有11例.选取同期体检健康者50例作为对照组.比较各组间血清IL-1β、IL-6、p53水平以及相关性.结果 胃癌组血清IL-1β、IL-6、p53水平显著高于对照组(P＜0.05).胃癌组Hp阳性率(89.0％)显著高于对照组(22.0％)(P＜0.05).Hp(+)胃癌组血清IL-1β、IL-6、p53水平显著高于Hp(-)胃癌组(P＜0.05).胃癌Hp感染密度3级患者血清IL-1β、IL-6、p53水平显著高于1级和2级(P＜0.05).经过Spearson相关性分析,IL-1β、IL-6、p53水平与胃癌Hp感染密度均呈正相关关系.结论 胃癌组织Hp感染可引起血清IL-1β、IL-6水平等炎性因子提高和抑癌基因p53的激活,并通过联合作用机制共同促进胃癌的发生、发展.     

Subacute Thyroiditis After Receiving the mRNA COVID-19 Vaccine (Moderna): The First Case Report and Literature Review in Korea

Subacute thyroiditis (SAT) is a painful thyroiditis that often requires steroid therapy. Here, we report the first case of severe SAT in a patient who received the first dose of mRNA coronavirus disease 2019 (COVID-19) vaccination. A 34-year-old man without a viral prodrome felt a lump when swallowing 5 days after his first dose of mRNA-1273 (Moderna) vaccination. Ten days after vaccination, the patient visited the hospital and was advised to rest and take nonsteroidal anti-inflammatory drugs. He revisited the hospital 10 days later as symptoms aggravated with anterior neck pain, headache, fatigue, muscle weakness, and weight loss. Thyroid hormone levels and inflammatory markers were consistent with thyrotoxicosis. A thyroid ultrasound scan revealed typical SAT findings. His symptoms rapidly improved after receiving prednisone. A week later, the patient successfully completed his second dose of the vaccine. The thyroid function test results were nearly normal 1 month after the completion of the vaccination. We report this case to raise awareness of the occurrence of SAT after COVID-19 vaccination. As the risk of COVID-19 outweighs the minor risks of the vaccine, managing the side effects of the first vaccine dose is crucial to complete COVID-19 vaccination.     

Microscopic Polyangiitis Following mRNA COVID-19 Vaccination: A Case Report

Coronavirus disease 2019 (COVID-19) is one of the most widespread viral infections in human history. As a breakthrough against infection, vaccines have been developed to achieve herd immunity. Here, we report the first case of microscopic polyangiitis (MPA) following BNT162b2 vaccination in Korea. A 42-year-old man presented to the emergency room with general weakness, dyspnea, and edema after the second BNT162b2 vaccination. He had no medical history other than being treated for tuberculosis last year. Although his renal function was normal at last year, acute kidney injury was confirmed at the time of admission to the emergency room. His serum creatinine was 3.05 mg/dL. Routine urinalysis revealed proteinuria (3+) and hematuria. When additional tests were performed for suspected glomerulonephritis, the elevation of myeloperoxidase (MPO) antibody (38.6 IU/mL) was confirmed. Renal biopsy confirmed pauci-immune anti-neutrophil cytoplasmic antibody (ANCA)-related glomerulonephritis and MPA was diagnosed finally. As an induction therapy, a combination of glucocorticoid and rituximab was administered, and plasmapheresis was performed twice. He was discharged after the induction therapy and admitted to the outpatient clinic 34 days after induction therapy. During outpatient examination, his renal function had improved with serum creatinine 1.51 mg/dL. We suggest that MPA needs to be considered if patients have acute kidney injury, proteinuria, and hematuria after vaccination.     

A case of suspected allergic granulomatosis and angiitis with a rapid clinical course of paraplegia

A 68-year-old man with suspected allergic granulomatosis and angiitis is reported. He had received 10 mg of prednisolone daily since July 1988 for asthma. He abruptly developed muscle weakness of the lower extremities, followed two days later by paraplegia. Six days after the onset of the muscle weakness, he was hospitalized. He showed disturbance of recent memory, disorientation, neck rigidity, paraplegia, mild muscle fasciculation and hypesthesia. He also showed paralytic ileus. Laboratory findings showed leukocytosis (24580/mm3), eosinophilia (56% of the peripheral white blood cells and 19% of the cells in the cerebrospinal fluid), on erythrocyte sedimentation rate of 31 mm/h, and the IgE level of 1200 IU/ml. The ECG showed loss of the r-wave in V1 and V2. A granulomatous lesion anterior to the spinal cord was found on myelography and MRI. Prednisolone was given at a dose of 60 mg daily resulting in improvement of the clinical symptoms and eosinophilia. There was disappearance of the granuloma on MRI performed after prednisolone therapy. Despite the severe manifestation of allergic granulomatosis and angiitis, prednisolone therapy had a marked effect in this patient. The granulomatous lesion anterior to the spinal cord shown by MRI suggested an eosinophilic granuloma, and may have been the etiology of some of the neurological symptoms.     

A case of recurrent autoimmune hemolytic anemia during remission associated with acute pure red cell aplasia and hemophagocytic syndrome due to human parvovirus B19 infection successfully treated by steroid pulse therapy with a review of the literature

The patient was a 47-year-old man diagnosed as having autoimmune hemolytic anemia (AIHA) in April 2011. He also had a congenital chromosomal abnormality, a balanced translocation. Treatment with prednisolone (PSL) 60 mg/day resulted in resolution of the AIHA, and the treatment was completed in November 2011. While the patient no longer had anemia, the direct and indirect Coombs tests remained positive. In May 2013, he developed recurrent AIHA associated with acute pure red cell aplasia (PRCA) and hemophagocytic syndrome (HPS) caused by human parvovirus B19 (HPV B19) infection. Tests for anti-erythropoietin and anti-erythropoietin receptor antibodies were positive. Steroid pulse therapy resulted in resolution of the AIHA, PRCA, as well as HPS. The serum test for anti-erythropoietin antibodies also became negative after the treatment. However, although the serum was positive for anti-HPV B19 IgG antibodies, the patient continued to have a low CD4 lymphocyte count (CD4, <300/μL) and persistent HPV B19 infection (HPV B19 DNA remained positive), suggesting the risk of recurrence and bone marrow failure.     

Gastric sarcoidosis

A 58-year-old Jamaican male presented with acute-onset, right-sided facial droop and slurred speech. He had an episode of upper gastrointestinal (GI) bleed on the second day of admission and endoscopy with biopsy of antral ulcer revealed gastric sarcoidosis. This case demonstrates the rare entity of gastric sarcoidosis presenting acutely with an upper GI bleed.     

Methodological and physiological test–retest reliability of 13C‐MRS glycogen measurements in liver and in skeletal muscle of patients with type 1 diabetes and matched healthy controls

Glycogen is a major substrate in energy metabolism and particularly important to prevent hypoglycemia in pathologies of glucose homeostasis such as type 1 diabetes mellitus (T1DM). ¹³C‐MRS is increasingly used to determine glycogen in skeletal muscle and liver non‐invasively; however, the low signal‐to‐noise ratio leads to long acquisition times, particularly when glycogen levels are determined before and after interventions. In order to ease the requirements for the subjects and to avoid systematic effects of the lengthy examination, we evaluated if a standardized preparation period would allow us to shift the baseline (pre‐intervention) experiments to a preceding day. Based on natural abundance ¹³C‐MRS on a clinical 3 T MR system the present study investigated the test–retest reliability of glycogen measurements in patients with T1DM and matched controls (n = 10 each group) in quadriceps muscle and liver. Prior to the MR examination, participants followed a standardized diet and avoided strenuous exercise for two days. The average coefficient of variation (CV) of myocellular glycogen levels was 9.7% in patients with T1DM compared with 6.6% in controls after a 2 week period, while hepatic glycogen variability was 13.3% in patients with T1DM and 14.6% in controls. For comparison, a single‐session test–retest variability in four healthy volunteers resulted in 9.5% for skeletal muscle and 14.3% for liver. Glycogen levels in muscle and liver were not statistically different between test and retest, except for hepatic glycogen, which decreased in T1DM patients in the retest examination, but without an increase of the group distribution. Since the CVs of glycogen levels determined in a “single session” versus “within weeks” are comparable, we conclude that the major source of uncertainty is the methodological error and that physiological variations can be minimized by a pre‐study standardization. For hepatic glycogen examinations, familiarization sessions (MR and potentially strenuous interventions) are recommended. Copyright © 2016 John Wiley & Sons, Ltd.     

A Case Report on 30-Week Premature Twin Babies with Congenital Myotonic Dystrophy Conceived by In Vitro Fertilization

Congenital myotonic dystrophy type 1 (DM1) presents severe generalized weakness, hypotonia, and respiratory compromise after delivery with high mortality and poor prognosis. We presented a congenital DM1 of premature twins in the 30th week of gestation. These twins were conceived by in vitro fertilization (IVF). Both babies presented apnea and hypotonia and had characteristic facial appearance. They were diagnosed DM1 by genetic method. They were complicated by chylothorax and expired at 100 and 215 days of age, respectively. Mother was diagnosed DM1 during the evaluation of babies. This is the first report on congenital DM1 which accompanied the chylothorax. More investigation on the association with chylothorax and congenital DM1 is recommended. With a case of severe neonatal hypotonia, congenital DM1 should be differentiated in any gestational age. Finally, since DM1 is a cause of infertility, we should consider DM1 in infertility clinic with detailed history and physical examination.