A case of Paenibacillus polymyxa bacteremia in a patient with cerebral infarction

We report a case of Paenibacillus polymyxa bacteremia in a patient with cerebral infarction. The patient was a 93-year-old female who was admitted to our hospital. On the 4 day after admitted, she had a fever 38.2 degrees C. The result of the blood culture showed a gram positive spore bacillus in the blood culture bottle. As a result of performing 16SrDNA sequence analysis (500bp), it was a close relationship most by 99.26% P. polymlxa of coincidence was found. With a result using api 20E and api 50CH, this bacillus turned out to be P. polymyxa. The patient had a habit of weeding around her house daily. So we had to take her habit into consideration. We thought she could to get her hands injured. We assumed probably her habit might put her into high risk state of infection of this bacillus. We have supposed this bacillus might be infected with her through her blood.     

Recurrence of sarcoidosis: The follow-up of splenic involvement

We report the case of a 53-year-old woman who initially presented with an intermittent dry cough that had lasted for 6 months. An investigation into these symptoms with thoracic computed tomography demonstrated hyperdense shadows in her lungs, and ultrasonography showed the presence of multiple hypoechoic nodules on her spleen. A lung biopsy was then performed, which revealed noncaseating epithelioid cell granulomas. Magnetic resonance imagining of her spleen was performed, which showed low signal intensity. The patient was treated with glucocorticoids, and 3 months later the lesions in her lungs had disappeared completely. Five months later, the lesions in her spleen had disappeared also. However, after 13 months of low-dose prednisone, a miliary pattern was observed on the patient's chest x-ray, although no lesions were observed in her spleen. Laboratory tests demonstrated that her blood level of angiotensin-converting enzyme had increased to 96 IU/L. The dose of prednisone was then increased, and the lung images returned to normal after 2 months of therapy.     

Unusual late presentation of X-linked chronic granulomatous disease in an adult female with a somatic mosaic for a novel mutation in CYBB

Most patients with chronic granulomatous disease (CGD) have mutations in the X-linked CYBB gene that encodes gp91phox, a component of the phagocyte NADPH oxidase. The resulting X-linked form of CGD is usually manifested in boys. Rarely, X-CGD is encountered in female carriers with extreme expression of the mutated gene. Here, we report on a woman with a novel mutation in CYBB (CCG[90-92]-->GGT), predicting Tyr30Arg31-->stop, Val in gp91phox, who presented with clinical symptoms at the age of 66. The mutation was present in heterozygous form in genomic DNA from her leukocytes but was fully expressed in mRNA from these cells, indicating that in her leukocytes the X chromosome carrying the nonmutated CYBB allele had been inactivated. Indeed, only 0.4% to 2% of her neutrophils showed NADPH oxidase activity. This extreme skewing of her X-chromosome inactivation was not found in her cheek mucosal cells and is thus not due to a general defect in gene methylation on one X chromosome. Moreover, the CYBB mutation was not present in the DNA from her cheek cells and was barely detectable in the DNA from her memory T lymphocytes. Thus, this patient shows a somatic mosaic for the CYBB mutation, which probably originated during her lifetime in her bone marrow.     

Cytogenetic studies in a patient with acute granulocytic leukemia of seven and one-half years duration

During a 7 1/2-yr period we monitored a chromosomally aberrant cell line in a woman with acute granulocytic leukemia (AGL) whose disease followed a rather unusual course. Her initial remission induced with 6- mercaptopurine (6-MP) and prednisone was maintained for 52 mo with biweekly doses of methotrexate (MTX) given orally. Because signs of liver dysfunction occurred, maintenance therapy was stopped. After 15 mo without chemotherapy, she suffered her first relapse (5 yr 7 mo after the initial diagnosis). A second remission, again induced with 6- MP and prednisone, was maintained for 1 yr, after which a second relapse occurred. Another remission lasting for only 4 mo was followed by a relapse of the leukemic process which led to her death. Cytogenetic studies of marrow cells and peripheral blood at the time of her initial diagnosis showed abnormal stem lines with characteristic chromosome markers. A small percentage of malignant cells bearing these markers persisted in her marrow during the years of her prolonged remission. At the time of her first relapse, 75% of her marrow cells had the marker karyotype, and at the time of her death (7 1/2 yr after the leukemia was diagnosed) all analyzable marrow metaphases had the characteristic chromosome changes.     

Complex regional pain syndrome type I induced by pacemaker implantation,with a good response to steroids and neurotropin

An 84-year-old woman was referred to our hospital because of aches and pain in her left hand and foot. Three months before her symptoms occurred, a pacemaker had been implanted for the treatment of a 2:1 atrioventricular block with bradycardia. In an X-ray examination, prominently decreased bone density was noted in her left fingers and toes. She was diagnosed to have CRPS-I, which was considered to have been induced by the pacemaker implantation. After treatment with methylprednisolone and Neurotropin, her symptoms dramatically improved.     

Successful management of Ph chromosome chronic myelogenous leukemia with leukapheresis during pregnancy

We report the successful management of a 25 year-old woman diagnosed in the second trimester of her pregnancy with chronic myelogenous leukemia (CML). She was treated with leukapheresis until her delivery at 38 weeks of gestation. The procedure was without significant adverse effects on the patient or the fetus. Following induced vaginal delivery, the patient underwent allogeneic bone marrow transplantation from her HLA-matched brother and is presently disease free 13 months following her transplant.     

Paraneoplastic Raynaud’s phenomenon in a breast cancer survivor

A 35-year-old woman with a history of breast cancer, treated 3 years ago with surgery, radiation, and chemotherapy presented with a rapid onset of severe Raynaud’s phenomenon. On physical examination, she had digital ulcers and splinter hemorrhages; there were no signs of an underlying rheumatic condition. Laboratory evaluation revealed anemia, the presence of antinuclear antibody and slight depression in her serum complement C3 level. The remainder of her serologic evaluation, including extractable nuclear antigens, anti-double-stranded DNA antibody, antiphospholipid antibodies, rheumatoid factor, anti-neutrophil cytoplasmic antibodies, cryoglobulins, and cold agglutins, were negative. Within weeks of her presentation, she developed acute renal failure and bilateral lower extremity edema. A computed tomography scan of her abdomen and pelvis showed bulky lymphadenopathy and hydronephrosis; a pelvic lymph node biopsy revealed metastatic breast cancer. She was initially managed with passive rewarming strategies, topical antibiotics, vasodilator and anti-platelet therapy, but had a negligible response. However, once she was started on chemotherapy for her recurrent malignancy, there was a significant improvement in her Raynaud’s symptoms and resolution of her digital ulcers.     

A dancer with rheumatoid arthritis: a role for biologics

A case study is presented in which a student dancer who developed rheumatoid arthritis during her degree course was able to complete her course with meticulous treatment including the use of biologics. She describes her own reactions to the disease occurring at this crucial phase in her career.     

Successful pregnancy and delivery during alpha-interferon therapy for essential thrombocythemia

Essential thrombocythemia (ET) was diagnosed in a 31-year-old woman who had a miscarriage in the first trimester of her first pregnancy. Because of her wish for child, the patient was given alpha interferon (alpha-IFN) instead of hydroxyurea or aspirin to lower her platelet count to about 80 x 10(4)/microliter. She also had a miscarriage in her second pregnancy. Thereafter, the platelet count was kept at 60-70 x 10(4)/microliter by dose escalation of alpha-IFN. In the 35th week of her third pregnancy, the patient delivered a healthy baby with a normal blood count. Several small infarctions were observed in the placenta. Control of platelet count by alpha-IFN administration was effective in preventing recurrent miscarriage associated with ET, and had no adverse effect on patient fertility or fetal development.     

Hyperkalaemic cardiac arrhythmia due to prolonged ingestion of potassium citrate

This case describes a 55 year old woman who presented with a pre-syncopal episode. She was found to have a serum potassium of 9.6 mmol/l with a markedly abnormal ECG. The cause of her hyperkalaemia was prolonged ingestion of potassium citrate and her ECG returned to normal with treatment of her hyperkalaemia. This case presents an unusual ECG appearance of hyperkalaemia, and highlights the potentially serious consequences of unmonitored use of potassium citrate.     

Pure red cell aplasia with inhibitor to erythroid precursors in serum

A patient with pure red cell aplasia (PRCA), who had the inhibitor to erythroid precursors in serum, is described. A 72-year-old female was referred to Nagoya National Hospital because of progressing anemia in April 1988. On admission, her hemoglobin was 4.8 g/dl, reticulocyte 0.8%, and bone marrow specimen contained only 1.2% erythroblast. On these bases, she was diagnosed as pure red cell aplasia. After small amount of blood was transfused, her hemoglobin and erythroblast in bone marrow (EBM) increased to 7.8 g/dl and 39.1%, respectively, and she was discharged. However, after a month, her hemoglobin dropped to 4.6 g/dl, reticulocyte to 0.1%, and EBM to 0%. Soon after corticosteroid therapy (prednisolone, 40 mg, daily) was started, a marked elevation of reticulocyte count was observed, and then her hemoglobin increased to 11.0 g/dl, and EBM to 31.6%. The reason for a transient spontaneous remission at the onset of her disease was occurred is unclear. The number of BFU-E in her bone marrow was within normal range, but it was suppressed significantly (65%) after the addition of her serum and the complement purified from rabbit plasma. This finding suggest the presence of inhibitor to erythroid precursors in her serum.     

Echocardiographic diagnosis of apical hypertrophic cardiomyopathy with optison contrast

We describe a case of obstructive apical hypertrophic cardiomyopathy in a 61-year-old Caucasian female with a history of chest pain syndrome. The patient was referred to the echo lab by her nuclear cardiologist, who was impressed by her abnormal stress nuclear perfusion scan that showed marked increased uptake of radioisotope at the left ventricular (LV) apex. The patient had deep negative T waves on her electrocardiogram similar to those originally described in the Japanese population. Transthoracic echocardiography with native harmonic imaging was suboptimal for visualizing LV segments. Therefore, 0.5 cc of Optison contrast was given intravenously, with repeat transthoracic imaging confirming the diagnosis. The patient and her family were referred for additional genetic testing and cardiovascular workup.     

Lessons Learned from Arti—Collaborating to Improve Care: the Past,Present, and Future of the Cancer and Aging Research Group

Dr Arti Hurria, who died tragically in November 2018, was a driving force in the growing field of geriatric oncology. She led the field through her commitment to her goals, collaboration with her colleagues, and the creation of the Cancer and Aging Research Group (CARG). As two of her closest colleagues, we are carrying her work forward with our colleagues through an infrastructure grant we led with Arti from the National Institute on Aging (R21/33; CARinG). This grant will provide a national structure for continuing to build the field through research, mentorship, and dissemination. We miss our friend dearly but are committed to carrying her legacy forward through CARG. J Am Geriatr Soc 67:879–883, 2019.     

Severe haemophilia A in a female: a compound heterozygote with nonrandom X-inactivation

We report a case of severe haemophilia A (<1% factor VIII level) in a female resulting from an interesting and improbable combination of events. The patient inherited a factor VIII intron 22 inversion from her carrier mother, as well as a second factor VIII inversion involving intron 22 that arose de novo on her paternally derived X chromosome. In addition, the patient's paternally derived X chromosome had been preferentially inactivated in 95+% of her somatic cells. The patient's mother, who was clinically unaffected, carried an intron 22 inversion as well and also showed nonrandom X-inactivation. The patient's mother had a brother with severe haemophilia A. It is therefore likely that the mother's inversion was on her maternally derived X chromosome. Since she was unaffected, it is likely that her inversion-bearing X was the one that was preferentially inactivated.     

A novel form of manually assisted ventilation

We report an individual with limb-girdle muscular dystrophy who has devised a way to assist her respiration by using her hands braced against the tray of her wheelchair. Utilizing this method, she was able to increase her tidal volume (VT) and lower her respiratory rate compared to unassisted spontaneous breathing, thereby maintaining a stable minute volume. The manually assisted VT measurements were comparable to those achieved using an intermittent abdominal pressure respirator (pneumatic belt). We believe that others with neuromuscular syndromes could use this technique, possibly decreasing their dependence on mechanical ventilatory assist devices.     

Iliopsoas bursitis-associated femoral neuropathy exacerbated after internal fixation of an intertrochanteric hip fracture in rheumatoid arthritis: a case report

We present the case of a 63-year-old woman with a six-year history of rheumatoid arthritis (RA) and a left iliopsoas bursitis. Radiography had detected destructive changes in her hip joint associated with her bursitis, and she had reported some paresthesia along the left anterior distal thigh. Her pain and numbness remained tolerable, and her disease activity was well controlled until she accidentally fell on the floor, which resulted in an unstable intertrochanteric fracture of left femur with displacement of the proximal portion. The fracture was successfully treated with open reduction and internal fixation, but after the surgery, her femoral nerve palsy worsened. She subsequently underwent bursa excision after the failure of conservative treatment. Accordingly, after bursa excision, the postoperative course was uneventful, and her neurological symptoms gradually disappeared. We would recommend that bursa excision be considered even in cases of iliopsoas bursitis associated with mild femoral neuropathy when destructive changes in the hip joint are also present.     

A case of middle ear tuberculosis; PCR of the otorrhea was useful for the diagnosis]

A 26-year-old female was admitted to our hospital with complaints of fever, cough, otorrhea and otalgia and progressive hearing loss of her left ear. Smears of her sputum were positive for acid-fast bacilli. Smears of her otorrhea were negative for acid-fast bacilli but PCR of her otorrhea was positive. Chest X-ray showed infiltrative shadows with the cavity. She was diagnosed as middle ear tuberculosis associated with pulmonary tuberculosis. After anti-tuberculous chemotherapy, fever, cough, otorrhea and pain of her left ear were improved, but her hearing level was not improved. In the case of middle ear tuberculosis, it is necessary to make an early diagnosis and treatment. This is the first reported case in Japan in which PCR of the otorrhea is positive.     

A human T-cell lymphotropic virus type-1 (HTLV-1) carrier complicated with various autoimmune diseases including primary biliary cirrhosis.

A 47-year-old woman with primary biliary cirrhosis and scleroderma was examined at our hospital for a 1-week history of non-resolving fever, arthralgia, myalgia, muscle weakness and fatigue. A diagnosis of systemic lupus erythematosus was made based on arthralgia, low leukocyte count, low lymphocyte count, low serum concentration of complements, positive anti-nuclear antibody and positive anti-double-strand-DNA antibody. She was negative for anti-U1RNP antibody, but positive for anti-Jo1 antibody, and her initial serum concentration of creatine phosphokinase was elevated. We diagnosed her as having overlap syndrome with scleroderma, systemic lupus erythematosus and possible polymyositis associated with primary biliary cirrhosis. Prednisolone rapidly improved her symptoms. Lobulated leukocytes were observed in her peripheral blood specimen. She was positive for anti-HTLV-1 antibody, but Southern blot hybridization did not confirm monoclonal integration of HTLV-I proviral DNA in her peripheral blood. This suggests the possibility of a relationship between HTLV-1 infection and various autoimmune disorders including primary biliary cirrhosis.     

Minor outbreak of Tuberculosis infection in a junior high school--infection from a preventable case

A second-year junior high school student (14 years old) was diagnosed as pulmonary tuberculosis. She was a member of the volleyball club in the school. She complained a high fever of 39 degrees at first on September 13, 2001. She visited a local physician and was administered medicine for a cold. On September 18, she was seen again for cough and fever, and informed the physician that her father was under treatment for pulmonary tuberculosis since June 2000. As a result, she was examined by chest X-ray, and was diagnosed as pulmonary tuberculosis with moderately positive smear and she was referred to hospital "N" where she was admitted on the next day. Three days after admission, a smear specimen of her sputum was heavily positive for tuberculosis bacilli. She had not been given any preventive chemotherapy when her father was diagnosed with TB because the results of her tuberculin skin test performed two months after her father's onset did not meet the criteria for preventive chemotherapy. Restriction fragment length polymorphism (RFLP) was carried out with 2 strains of tuberculosis bacillus isolated from her and her father, and the RFLP pattern of both strains was same. Thus, it can be concluded that the patient was infected from her father and developed pulmonary tuberculosis. A contact survey was subsequently carried out on October 4, 2001 for 107 students and 20 teachers at the school. None of the subjects examined showed any abnormalities on their chest X-ray. A tuberculin skin test survey of 105 students and one teacher was also carried out on November 12, 2001, about 2 months after the final contact. The diameter of skin reactions revealed a monomodal distribution pattern in subjects. The results of the present tuberculin skin test were verified with respect to the degree of contact and last tuberculin test in routine health examination at the school. Four students who had close contact with the patient evidently and showed a strong positive skin reaction of more than 30 mm in diameter in the present tuberculin skin test, accompanied by enhanced reaction of more than 20 mm compared with the last tuberculin skin test, were administered preventive chemotherapy.     

Pregnant woman with non‐comatose autoimmune acute liver failure in the second trimester rescued using medical therapy: A case report

We present the case of a 25‐year‐old woman at 16 weeks of gestation who presented with non‐comatose autoimmune acute liver failure and was at high risk of developing fulminant hepatitis. Predictive formulas indicated a high probability of developing fulminant hepatitis. Unenhanced computed tomography showed marked hepatic atrophy and broadly heterogeneous hypoattenuating areas. The course of her illness was subacute, and the etiology of liver injury was unclear. Considering all of the above, we predicted a poor prognosis. Plasma exchange (PE) and continuous hemodiafiltration (CHDF) therapy were initiated just after admission. A few days after admission, a high titer (×80) of antinuclear antibody was noted. Because autoimmune hepatitis (AIH) was considered a cause of liver failure, treatment with moderate prednisolone (30 mg/day) doses was administrated, with careful consideration of her pregnancy. Thereafter, her laboratory findings and clinical course gradually improved without the need for liver transplantation. A liver biopsy at 18 days after admission indicated a diagnosis of AIH. She continued the pregnancy and delivered a healthy baby without any complications. Eventually, prednisolone doses were decreased to 10 mg, after which her liver function worsened. The second liver biopsy also indicated a diagnosis of AIH. Accordingly, low‐dose prednisolone and azathioprine doses (50 mg/day) were administrated to recover her liver function, after which her liver function regained normalcy. This case illustrates that a pregnant woman with non‐comatose autoimmune acute liver failure in the first or second trimester of pregnancy and her fetus can be rescued by PE/CHDF therapy and safe moderate doses of prednisolone.