WorldWideScience

Sample records for acute childhood myositis

  1. Benign acute childhood myositis.

    Science.gov (United States)

    Rajajee, Sarala; Ezhilarasi, S; Rajarajan, K

    2005-05-01

    To describe the clinical and laboratory features of benign acute childhood myositis. 40 children of BACM were seen during October 2001 to February 2002, 22 (52%) were male with mean age of 5.3 years. Duration of illness was 3.97 days. Preceding symptoms included fever, leg pain, vomiting and inability to walk. A provisional diagnosis of viral myositis was made in 26 (66%). Guillian Barre Syndrome was the most common referral diagnosis. 11 (27.5%) children had leucopenia with lymphocytic response and 16 (40%) had thrombocytopenia. CRP was negative in 32 (80%). CPK was markedly elevated (more than 1000 IU/l) in 18 (45%) and more than 500 IU/l in 11 (27.5%) remaining between 200 to 500 IU/l. Associated features were hepatitis (elevated SGOT & SGPT) in 28 (70%) and shock in 5 (12.5%). Serological test were indicative of dengue virus (Elisa PAN BIO) in 20 (50%) of which 8 (25%) were primary dengue and 12 (30%) were secondary dengue. The outcome of therapy mainly supportive were excellent. Benign acute myositis occurs often in association with viral infection. In the present study, Dengue virus was positive in 20 (50%) children. Benign acute myositis can be differentiated from more serious causes of walking difficulty by presence of calf and thigh muscle tenderness on stretching, normal power and deep tendon reflex and elevated CPK.

  2. Benign acute childhood myositis: an unusual cause of calf pain

    Energy Technology Data Exchange (ETDEWEB)

    Panghaal, Vikash; Levin, Terry L. [Montefiore Medical Center, Department of Radiology, Bronx, NY (United States); Ortiz-Romero, Sara [Albert Einstein College of Medicine, Bronx, NY (United States); Lovinsky, Stephanie [Montefiore Medical Center, Department of Pediatrics, Bronx, NY (United States)

    2008-06-15

    We present a 17-year-old boy with benign acute childhood myositis (BACM) who presented with acute onset of right calf pain, swelling, and difficulty walking. The MR findings are reviewed. MR may be useful in diagnosing BACM and in differentiating it from other causes of myositis. (orig.)

  3. Benign acute childhood myositis: an unusual cause of calf pain

    International Nuclear Information System (INIS)

    Panghaal, Vikash; Levin, Terry L.; Ortiz-Romero, Sara; Lovinsky, Stephanie

    2008-01-01

    We present a 17-year-old boy with benign acute childhood myositis (BACM) who presented with acute onset of right calf pain, swelling, and difficulty walking. The MR findings are reviewed. MR may be useful in diagnosing BACM and in differentiating it from other causes of myositis. (orig.)

  4. Simple diagnosis of benign acute childhood myositis: Lessons from a case report.

    Science.gov (United States)

    Terlizzi, Vito; Improta, Federica; Raia, Valeria

    2014-01-01

    Acute muscle pain and walking difficulty are symptoms compatible with both benign and severe degenerative diseases. As a consequence, in some cases invasive tests and hospitalizations are improperly scheduled. We report the case of a 7-year-old child suffering from acute calf pain and abnormal gait following flu-like symptoms. A review of the literature will be helpful to better define differential diagnosis in cases of muscle pain in children. Daily physical examination and urine dipstick are sufficient to confirm the diagnosis of benign acute childhood myositis (BACM) during the acute phase, to promptly detect severe complications and to rule out degenerative diseases. Children with BACM do not require hospitalization, medical interventions or long-term follow-up.

  5. Myositis

    Science.gov (United States)

    Myositis means inflammation of the muscles that you use to move your body. An injury, infection, or ... weakness, plus a skin rash. Other symptoms of myositis may include Fatigue after walking or standing Tripping ...

  6. Disseminated tuberculous myositis in a child with acute myelogenous leukemia.

    Science.gov (United States)

    Chen, Yu-Chieh; Sheen, Jiunn-Ming; Huang, Li-Tung; Wu, Kuan-Sheng; Hsiao, Chih-Cheng

    2009-04-01

    Tuberculous myositis is extremely rare, even in immunocompromised hosts. We present a case of disseminated tuberculous myositis in a girl with secondary acute myelogenous Leukemia following successful chemotherapy for undifferentiated sarcoma of the maxillary sinus. The diagnosis was established by direct visualization of acid-fast bacilli in the biopsied nodule and by typical pathologic findings. Three weeks after initiation of antituberculosis treatment, the patient experienced both clinical and radiologic improvement.

  7. Disseminated Tuberculous Myositis in a Child with Acute Myelogenous Leukemia

    Directory of Open Access Journals (Sweden)

    Yu-Chieh Chen

    2009-04-01

    Full Text Available Tuberculous myositis is extremely rare, even in immunocompromised hosts. We present a case of disseminated tuberculous myositis in a girl with secondary acute myelogenous leukemia following successful chemotherapy for undifferentiated sarcoma of the maxillary sinus. The diagnosis was established by direct visualization of acid-fast bacilli in the biopsied nodule and by typical pathologic findings. Three weeks after initiation of antituberculosis treatment, the patient experienced both clinical and radiologic improvement.

  8. Ultrasound and MR imaging of acute myositis

    International Nuclear Information System (INIS)

    Schedel, H.; Reimers, C.D.; Vogl, T.; Lissner, J.

    1992-01-01

    Ultrasound and MR imaging are both methods suitable for imaging neuromuscular diseases; however, contrast media like Gd-DTPA are, to our knowledge, not used so far. In this article we report about our experience of the use of Gd-DTPA in imaging myositis. (orig.)

  9. Recurrent Focal Myositis in Childhood: A Case Report and Systematic Review of the Literature.

    Science.gov (United States)

    Milani, Gregorio P; Mazzoni, Marta B M; Gatti, Helga; Bertolozzi, Giuseppe; Fossali, Emilio F

    2017-06-01

    Recurrent focal myositis in adulthood has been documented in case reports and case series. Existing textbooks and reviews do not mention or mention only in passing this entity in childhood. We present a patient with recurrent focal myositis and summarize available clinical, laboratory, management, and outcome data on this entity in the pediatric ages. We describe a nine-year-old patient with recurrent myositis of the left biceps. The terms "myositis" and "relapsing" or "recurrent" or "recurrence" were searched using the United States National Library of Medicine and the Excerpta Medica Database. Pertinent secondary references were also screened. Another seven pediatric patients (five males and two females, median age ten years, interquartile range 7-14 years) with recurrent focal myositis were identified. In children, the calf was the most frequently involved muscle. Unlike adults, the myositis in children was usually painful. Episodes could be associated with normal or elevated erythrocyte sedimentation rate and blood levels of C-reactive protein, creatine kinase, and aspartate aminotransferase. Abnormalities of the creatine kinase value did not seem to be associated with a higher risk of recurrences. Focal myositis has a favorable outcome in children. Recurrent focal myositis is rare and usually benign in childhood. More data are needed to improve the understanding of this condition. Copyright © 2017 Elsevier Inc. All rights reserved.

  10. Acute pure motor quadriplegia: is it dengue myositis?

    Science.gov (United States)

    Kalita, J; Misra, U K; Mahadevan, A; Shankar, S K

    2005-01-01

    In view of paucity of comprehensive evaluation about dengue infection producing quadriplegia, we report the clinical, laboratory and neurophysiological studies in these patients. Seven out of 16 patients with dengue infection presented with quadriplegia and they were subjected to a detailed clinical history and examination. Diagnosis of dengue was based on characteristic clinical and positive serum IgM ELISA. Blood counts, serum chemistry, CSF analysis and nerve conduction and electromyographic (EMG) studies were performed in all. Outcome was defined at the end of 1 month into complete, partial and poor on the basis of activities of daily living The age of the patients ranged between 9 and 42 years and 2 were females. Fever was present in all and myalgia in 5 patients. Weakness developed within 3-5 days of illness, which was severe in 4 and moderate in 3 patients. Hypotonia and hyporeflexia were present in 5 patients. Nerve conduction and EMG studies were normal in all except one whose EMG was myopathic. Serum CPK and SGPT were raised in all and serum bilirubin in 3 patients. All the patients had coagulopathy and 6 had thrombocytopenia. Muscle biopsy in 1 patient was suggestive of myositis. Six patients improved completely and one had poor recovery who needed ventilatory support. Dengue virus infection may result in acute pure motor quadriplegia due to myositis. In an endemic area it should be considered in the differential diagnosis of acute flaccid paralysis.

  11. Parvovirus B19 infection as a cause of acute myositis in an adult.

    Science.gov (United States)

    Cakirca, Mustafa; Karatoprak, Cumali; Ugurlu, Serdal; Zorlu, Mehmet; Kıskaç, Muharrem; Çetin, Güven

    2015-01-01

    Parvovirus B19 infection is often asymptomatic, but clinical expressions may include transient aplastic crisis, erythema infectiosum, non-immune hydrops fetalis, and chronic red cell aplasia. This virus has also been associated with rheumatoid arthritis and other autoimmune connective tissue diseases; however, we could not identify any acute adult myositis case developed after a Parvovirus B19 infection in the literature. For this reason, we would like to present a rare case of acute myositis developed after Parvovirus B19 infection. In patients presenting with symptoms of fever, rash on the legs and myositis, viral infections such as Parvovirus B19 should be kept in mind. Copyright © 2013 Elsevier Editora Ltda. All rights reserved.

  12. A case of acute orbital myositis which was difficult to diagnose at first

    International Nuclear Information System (INIS)

    Yamamoto, Kiyoshi; Terabayashi, Tadasu; Mori, Hiroshi; Niida, Hirohito; Sugiyama, Yoshiaki; Nakagawa, Masato

    1988-01-01

    We report a case of acute orbital myositis. A 61-year-old woman exhibited acute orbital pain, diplopia, and left proptosis. Examination revealed a 5-mm left proptosis, left chemosis, and limitations in all directions of the movement of the left eye. Visual acuity was unimpaired, however, and the neurological examination was otherwise normal. CT demonstrated a left inferior orbital mass. We suspected an acute orbital pseudotumor based on the rapid onset and the clinical symptoms. We treated her with systemic corticosteroids. Four weeks later CT documented a reduced left orbital mass; there seemed to be left only an inferior rectus muscle enlargement. We diagnosed acute orbital myositis, a subgroup of orbital pseudotumors, based upon the rapid clinical presentation, the CT features, and the resolution after treatment with systemic corticosteroids. (author)

  13. Case of acute orbital myositis which was difficult to diagnose at first

    Energy Technology Data Exchange (ETDEWEB)

    Yamamoto, Kiyoshi; Terabayashi, Tadasu; Mori, Hiroshi; Niida, Hirohito; Sugiyama, Yoshiaki; Nakagawa, Masato

    1988-02-01

    We report a case of acute orbital myositis. A 61-year-old woman exhibited acute orbital pain, diplopia, and left proptosis. Examination revealed a 5-mm left proptosis, left chemosis, and limitations in all directions of the movement of the left eye. Visual acuity was unimpaired, however, and the neurological examination was otherwise normal. CT demonstrated a left inferior orbital mass. We suspected an acute orbital pseudotumor based on the rapid onset and the clinical symptoms. We treated her with systemic corticosteroids. Four weeks later CT documented a reduced left orbital mass; there seemed to be left only an inferior rectus muscle enlargement. We diagnosed acute orbital myositis, a subgroup of orbital pseudotumors, based upon the rapid clinical presentation, the CT features, and the resolution after treatment with systemic corticosteroids.

  14. Acute myositis associated with concurrent infection of rotavirus and norovirus in a 2-year-old girl

    Directory of Open Access Journals (Sweden)

    Kei Yamamoto

    2015-09-01

    Full Text Available Rotavirus and norovirus are common pathogens associated with gastroenteritis in children. Although rotavirus occasionally induces central nervous system disease, only 3 cases with rotavirus-induced acute myositis have been reported in the English literature. We recently treated a female patient with acute myositis associated with gastroenteritis induced by concurrent infection with rotavirus and norovirus. Having suffered from gastroenteritis for 3 days, she suddenly developed myositis affecting her lower extremities with concomitant creatine kinase elevation. Herein, we present our patient and review the previous cases including those reported in the Japanese literature.

  15. [Clinical features and management of acute myositis in idiopathic orbital inflammation].

    Science.gov (United States)

    Halimi, E; Rosenberg, R; Wavreille, O; Bouckehove, S; Franquet, N; Labalette, P

    2013-09-01

    Acute myositis is the second most common component of non-specific orbital inflammation. We will describe its clinical features and natural history. This is a retrospective study of 10 cases. The diagnosis of acute myositis was based on clinical and imaging criteria. Our study includes five men and five women. The average age was 35.8 years (17-59 years). Clinical symptoms were: pain increased on eye movement (10/10), diplopia (4/10), proptosis (6/10), visual loss (3/10), lid edema (6/10), conjunctival hyperemia (7/10), anterior scleritis (2/10), episcleritis (2/10), chemosis (4/10), upper lid retraction (1/10), limitation of eye movement (3/10), fundus abnormalities (2/10). Imaging showed thickening of one or more extraocular muscles (10/10). Recovery was complete with anti-inflammatory therapy in six patients. Three patients experienced recurrence, and one patient had a clinical rebound upon tapering the treatment. Acute myositis can be defined by pain on eye movement, signs of inflammation, and extraocular muscle thickening on imaging. If the clinical presentation is typical, histopathological analysis can be deferred but remains necessary in cases of poor response to treatment, chronic duration or suspicion of tumor infiltration. The diagnosis of acute myositis may be suspected in the presence of consistent, well-defined clinical signs. Contiguous inflammation is often associated. Treatment is based on steroids or non-steroidal treatment anti-inflammatory therapy, administered alone or consecutively. Recurrences are frequent but do not alter the final prognosis. Copyright © 2013 Elsevier Masson SAS. All rights reserved.

  16. Childhood Acute Lymphoblastic Leukemia

    DEFF Research Database (Denmark)

    Pui, Ching-Hon; Yang, Jun J; Hunger, Stephen P

    2015-01-01

    PURPOSE: To review the impact of collaborative studies on advances in the biology and treatment of acute lymphoblastic leukemia (ALL) in children and adolescents. METHODS: A review of English literature on childhood ALL focusing on collaborative studies was performed. The resulting article...

  17. Rheumatoid myositis leading to acute lower extremity compartment syndrome: a case-based review.

    Science.gov (United States)

    Jo, Daniel; Pompa, Tiffany; Khalil, Ambreen; Kong, Frank; Wetz, Robert; Goldstein, Mark

    2015-10-01

    Muscle pain and weakness in a rheumatoid arthritis (RA) patient has a broad differential, and myositis should be considered early in the disease course as serious limb and life-threatening sequelae may occur. A 55-year-old woman with a past medical history of methotrexate-controlled RA presented with right leg pain for 4 days. The patient suffered sensory loss in the right foot and decreased strength in the toes. Lab tests revealed elevated creatine kinase, ESR, and anti-rheumatoid factor antibody titers. CT scan revealed myositis of posterior compartment muscles. Progressive edema, pain, and neuromuscular deficits persisted despite steroid and antibiotic therapy, so the patient was taken for urgent fasciotomy for acute compartment syndrome. The muscle biopsy showed diffuse mononuclear cell infiltration as well as perivascular and perineural involvement consistent with rheumatoid myositis (RM). The patient did well post-op on a prednisone taper. This case underlines the systemic nature of RA and exemplifies the severity of inflammation that may lead to grave consequences such as compartment syndrome. The histopathology is diagnostic when there is evidence of mononuclear cell infiltration; however, this is not entirely specific. Early, aggressive therapy with immunosuppressives is warranted in such patients. RM has not, to our knowledge, been recorded to cause acute compartment syndrome. Clinicians should be aware of this uncommon manifestation of RA keeping the various presentations of rheumatoid disease in mind when faced with these patients.

  18. Validation and clinical significance of the childhood myositis assessment scale for assessment of muscle function in the juvenile idiopathic inflammatory myopathies

    NARCIS (Netherlands)

    Huber, AM; Feldman, BM; Rennebohm, RM; Hicks, JE; Lindsley, CB; Perez, MD; Zemel, LS; Wallace, CA; Ballinger, SH; Passo, MH; Reed, AM; Summers, RM; Katona, IM; Miller, FW; Lachenbruch, PA; Rider, LG; White, P.H.

    Objective. To examine the measurement characteristics of the Childhood Myositis Assessment Scale (CMAS) in children with juvenile idiopathic inflammatory myopathy (juvenile IIM), and to obtain preliminary data on the clinical significance of CMAS scores. Methods. One hundred eight children with

  19. Acute hemiplegia in childhood

    International Nuclear Information System (INIS)

    Okuno, Takehiko; Takao, Tatsuo; Itoh, Masatoshi; Konishi, Yukuo; Nakano, Shozo

    1983-01-01

    The results of CT in 100 patients with acute hemiplegia in childhood are reported here. The etiology was various: 2 patients had infratentorial brain tumors, 56 had cerebral vascular diseases, 3 had head injuries, 16 had intracranial infectious diseases, one had postinfectious encephalomyelitis, one had multiple sclerosis, 2 had epilepsy, and the diagnosis of 19 were unknown. Eleven patients had a normal CT and a good prognosis. As for the type of onset, there were patients of type 1 with fever and 42 with convulsions and unconsciousness; those of type 2 with convulsions and unconsciousness were 12, and those of type 3 without fever and convulsions were 46. This classification is assumed to be useful, as the type of onset is characteristic of the etiology. Six patients were diagnosed correctly by repeated examinations, although the first CT did not reveal any remarkable findings. Capsular infarction, occlusion of the posterior cerebral artery in acute hemiplegia in childhood, abnormal findings of the internal capsule, thalamus, and midbrain in a patient with postinfectious encephalomyelitis, and a diffuse low density in the CT of the unilateral hemisphere in the patients with acute encephalopathy and acute hemiplegia of an obscure origin have been found after the introduction of computerized tomography. (author)

  20. Viral myositis in children.

    Science.gov (United States)

    Magee, Haley; Goldman, Ran D

    2017-05-01

    Question I recently evaluated a child in my clinic after an emergency department visit where she presented having woken up that morning refusing to walk and was crawling around the house. The parents reported she was getting over a cold, and I recall similar cases of myositis during the H1N1 influenza epidemic a few years ago. What are the key features of myositis that I should recognize? Which investigations are needed to confirm the diagnosis and how should affected patients be managed? Answer Benign acute childhood myositis is a mild and self-limited sudden onset of lower extremity pain during or following recovery from a viral illness. Presentation can include tiptoe gait or refusal to walk, secondary to symmetric bilateral lower extremity pain that resolves quickly, usually within 3 days. In general, no investigation is needed except in severe cases for which screening bloodwork and a urine myoglobin test can confirm the diagnosis and rule out complications. Myoglobinuria and highly elevated creatine phosphokinase levels are rare but should be a consideration for admission to hospital. Prognosis is excellent and management might include rest and analgesia. Copyright© the College of Family Physicians of Canada.

  1. A case of all-trans retinoic acid-induced myositis in the treatment of acute promyelocytic leukaemia.

    Science.gov (United States)

    Chan, K H; Yuen, S L S; Joshua, D

    2005-12-01

    The use of all-trans retinoic acid (ATRA) is now standard therapy for the treatment of acute promyelocytic leukaemia (APML). There have been increasing reports of ATRA-induced myositis, with its frequent association with retinoic acid syndrome and Sweet's syndrome. We report a case of a young man with APML who developed ATRA-induced myositis characterized by unexplained fevers, bilateral leg swelling and a non-painful purpuric, petechial rash, with prompt resolution of symptoms and signs with high-dose steroids and cessation of ATRA. Rapid recognition of this adverse reaction and prompt institution of steroids is of prime importance given its potentially fatal course.

  2. Effective induction therapy for anti-SRP associated myositis in childhood: A small case series and review of the literature.

    Science.gov (United States)

    Binns, E L; Moraitis, E; Maillard, S; Tansley, S; McHugh, N; Jacques, T S; Wedderburn, L R; Pilkington, C; Yasin, S A; Nistala, K

    2017-10-31

    Anti-Signal Recognition Particle associated myopathy is a clinically and histopathologically distinct subgroup of Juvenile Idiopathic Inflammatory Myositis, which is under-recognised in children and fails to respond to conventional first line therapies. We present three cases where remission was successfully induced using combination therapy with intensive rehabilitation. Three new patients are reported. All 3 cases presented with profound, rapid-onset, proximal myopathy and markedly raised CK, but no rash. Histology revealed a destructive myopathy characterized by scattered atrophic and necrotic fibres with little or no inflammatory infiltrate. All 3 patients responded to induction with cyclophosphamide, IVIG and rituximab, in conjunction with intensive physiotherapy and methotrexate as the maintenance agent. Our patients regained near-normal strength (MMT > 70/80), in contrast with the current literature where >50% of cases reported severe residual weakness. A literature search on paediatric anti-SRP myositis was performed to June 2016; PubMed was screened using a combination of the following terms: signal recognition particle, autoantibodies, antibodies, myositis, muscular diseases, skeletal muscle, childhood, paediatric, juvenile. Articles in a foreign language were excluded. Nine case studies were found. This paper supports the hypothesis that anti-SRP myositis is distinct from other JIIM. It is an important differential to JDM and should be considered where there is severe weakness without rash or if highly elevated muscle enzymes (CK > 10,000 U/l) are found. Early identification is essential to initiate aggressive medical and physical therapy. Greater international collaboration and long-term follow-up data is needed to establish the most effective treatment strategy for this rare group of patients.

  3. Focal myositis

    International Nuclear Information System (INIS)

    Kransdorf, M.J.; Temple, H.T.; Sweet, D.E.

    1998-01-01

    Focal myositis is a pseudotumor of soft tissue that typically occurs in the deep soft tissue of the extremities, and is a relatively rare lesion. There is a wide clinical spectrum, with approximately one-third of patients with focal myositis subsequently developing polymyositis, and clinical symptoms of generalized weakness, fever, myalgia, and weight loss, with elevation of creatine phosphokinase. We report the case of a patient with focal myositis who subsequently developed myositis ossificans-like features. (orig.)

  4. NONBACTERIAL MYOSITIS

    OpenAIRE

    Crum-Cianflone, Nancy F.

    2010-01-01

    Infectious myositis is defined as an infection of a skeletal muscle. Infectious myositis is most commonly caused by bacteria; however, a variety of viral, parasitic, and fungal agents may also cause myositis. The pathogenesis of nonbacterial infectious myositis is via direct infection of the musculature or immune mechanisms. Symptoms typically include muscular pain, tenderness, swelling, and/or weakness. The diagnosis of the specific microbe is often suggested by the presence of concordant cl...

  5. Iliopsoas myositis mimicking appendicitis: MRI diagnosis

    Energy Technology Data Exchange (ETDEWEB)

    Wysoki, M.G. [Department of Radiology, Medical College of Pennsylvania Hospital and Hahnemann University, 3300 Henry Avenue, Philadelphia PA 19129 (United States); Angeid-Backman, E. [Department of Radiology, Medical College of Pennsylvania Hospital and Hahnemann University, 3300 Henry Avenue, Philadelphia PA 19129 (United States); Izes, B.A. [Department of Radiology, Medical College of Pennsylvania Hospital and Hahnemann University, 3300 Henry Avenue, Philadelphia PA 19129 (United States)

    1997-05-01

    Myositis of the truncal muscles can closely mimic acute appendicitis. Myositis is the early stage of muscular infection. It is characterized by diffuse muscular pain and swelling without a distinct mass. Early diagnosis of myositis improves the outcome and surgical debridement is usually avoided. Pyomyositis, the advanced stage of the disease, can be diagnosed by MRI examination. We present a case of early bacterial myositis that was diagnosed by MRI. (orig.). With 3 figs.

  6. Iliopsoas myositis mimicking appendicitis: MRI diagnosis

    International Nuclear Information System (INIS)

    Wysoki, M.G.; Angeid-Backman, E.; Izes, B.A.

    1997-01-01

    Myositis of the truncal muscles can closely mimic acute appendicitis. Myositis is the early stage of muscular infection. It is characterized by diffuse muscular pain and swelling without a distinct mass. Early diagnosis of myositis improves the outcome and surgical debridement is usually avoided. Pyomyositis, the advanced stage of the disease, can be diagnosed by MRI examination. We present a case of early bacterial myositis that was diagnosed by MRI. (orig.). With 3 figs

  7. Clinical and laboratory description of a series of cases of acute viral myositis

    Directory of Open Access Journals (Sweden)

    Silvana Paula Cardin

    2015-10-01

    Full Text Available ABSTRACT OBJECTIVE: Describe the clinical and laboratory profile, follow-up, and outcome of a series of cases of acute viral myositis. METHOD: A retrospective analysis of suspected cases under observation in the emergency department was performed, including outpatient follow-up with the recording of respiratory infection and musculoskeletal symptoms, measurement of muscle enzymes, creatine phosphokinase (CPK, lactate dehydrogenase (LDH, transaminases (AST and ALT, blood count, C-reactive protein, and erythrocyte sedimentation rate in the acute phase and during follow-up until normalization. RESULTS: Between 2000 and 2009, 42 suspected cases were identified and 35 (27 boys were included. The median age was 7 years and the diagnosis was reported in 89% in the first emergency visit. The observed respiratory symptoms were cough (31%, rhinorrhea (23%, and fever (63%, with a mean duration of 4.3 days. Musculoskeletal symptoms were localized pain in the calves (80%, limited ambulation (57%, gait abnormality (40%, and muscle weakness in the lower limbs (71%, with a mean duration of 3.6 days. There was significant increase in CPK enzymes (5507 ± 9180 U/L, LDH (827 ± 598 U/L, and AST (199 ± 245 U/L, with a tendency to leukopenia (4590 ± 1420 leukocytes/mm3. The complete recovery of laboratory parameters was observed in 30 days (median, and laboratory and clinical recurrence was documented in one case after 10 months. CONCLUSION: Typical symptoms with increased muscle enzymes after diagnosis of influenza and self-limited course of the disease were the clues to the diagnosis. The increase in muscle enzymes indicate transient myotropic activity related to seasonal influenza, which should be considered, regardless of the viral identification, possibly associated with influenza virus or other respiratory viruses.

  8. Clinical and laboratory description of a series of cases of acute viral myositis.

    Science.gov (United States)

    Cardin, Silvana Paula; Martin, Joelma Gonçalves; Saad-Magalhães, Claudia

    2015-01-01

    Describe the clinical and laboratory profile, follow-up, and outcome of a series of cases of acute viral myositis. A retrospective analysis of suspected cases under observation in the emergency department was performed, including outpatient follow-up with the recording of respiratory infection and musculoskeletal symptoms, measurement of muscle enzymes, creatine phosphokinase (CPK), lactate dehydrogenase (LDH), transaminases (AST and ALT), blood count, C-reactive protein, and erythrocyte sedimentation rate in the acute phase and during follow-up until normalization. Between 2000 and 2009, 42 suspected cases were identified and 35 (27 boys) were included. The median age was 7 years and the diagnosis was reported in 89% in the first emergency visit. The observed respiratory symptoms were cough (31%), rhinorrhea (23%), and fever (63%), with a mean duration of 4.3 days. Musculoskeletal symptoms were localized pain in the calves (80%), limited ambulation (57%), gait abnormality (40%), and muscle weakness in the lower limbs (71%), with a mean duration of 3.6 days. There was significant increase in CPK enzymes (5507±9180U/L), LDH (827±598U/L), and AST (199±245U/L), with a tendency to leukopenia (4590±1420) leukocytes/mm(3). The complete recovery of laboratory parameters was observed in 30 days (median), and laboratory and clinical recurrence was documented in one case after 10 months. Typical symptoms with increased muscle enzymes after diagnosis of influenza and self-limited course of the disease were the clues to the diagnosis. The increase in muscle enzymes indicate transient myotropic activity related to seasonal influenza, which should be considered, regardless of the viral identification, possibly associated with influenza virus or other respiratory viruses. Copyright © 2015 Sociedade Brasileira de Pediatria. Published by Elsevier Editora Ltda. All rights reserved.

  9. Acute severe childhood asthma

    African Journals Online (AJOL)

    Attending school regularly. • Sleeping well at night ... and children must know exactly what to do when an acute attack occurs, and when to ... peak flow reading that is 30% below the expected level, are ... oxygen saturations < 94%, should receive high-flow oxygen ... usual of the metered dose inhaler are required to achieve.

  10. Myositis Mimics.

    Science.gov (United States)

    Michelle, E Harlan; Mammen, Andrew L

    2015-10-01

    Patients with autoimmune myositis typically present with muscle weakness, elevated serum levels of muscle enzymes, and abnormal muscle biopsies. However, patients with other acquired myopathies or genetic muscle diseases may have remarkably similar presentations. Making the correct diagnosis of another muscle disease can prevent these patients from being exposed to the risks of immunosuppressive medications, which benefit those with myositis, but not those with other types of muscle disease. Here, we review some of the most common acquired and inherited muscle diseases that can mimic autoimmune myositis, including inclusion body myositis, limb girdle muscular dystrophies, metabolic myopathies, mitochondrial myopathies, and endocrine myopathies. We emphasize aspects of the medical history, physical exam, laboratory evaluation, and muscle biopsy analysis that can help clinicians distinguish myositis mimics from true autoimmune myositis.

  11. Focal myositis

    Energy Technology Data Exchange (ETDEWEB)

    Kransdorf, M.J. [Saint Mary`s Hospital, Richmond, VA (United States). Dept. of Radiol.]|[Department of Radiologic Pathology, Armed Forces Institute of Pathology, Washington, DC (United States); Temple, H.T. [Department of Orthopedic Surgery, University of Virginia Health Sciences Center, Charlottesville, Virginia (United States)]|[Department of Orthopedic Pathology, Armed Forces Institute of Pathology, Washington, DC (United States); Sweet, D.E. [Department of Orthopedic Pathology, Armed Forces Institute of Pathology, Washington, DC (United States)

    1998-05-01

    Focal myositis is a pseudotumor of soft tissue that typically occurs in the deep soft tissue of the extremities, and is a relatively rare lesion. There is a wide clinical spectrum, with approximately one-third of patients with focal myositis subsequently developing polymyositis, and clinical symptoms of generalized weakness, fever, myalgia, and weight loss, with elevation of creatine phosphokinase. We report the case of a patient with focal myositis who subsequently developed myositis ossificans-like features. (orig.) With 3 figs., 25 refs.

  12. Acute leukemia in early childhood

    Directory of Open Access Journals (Sweden)

    M. Emerenciano

    2007-06-01

    Full Text Available Acute leukemia in early childhood is biologically and clinically distinct. The particular characteristics of this malignancy diagnosed during the first months of life have provided remarkable insights into the etiology of the disease. The pro-B, CD10 negative immunophenotype is typically found in infant acute leukemia, and the most common genetic alterations are the rearrangements of the MLL gene. In addition, the TEL/AML1 fusion gene is most frequently found in children older than 24 months. A molecular study on a Brazilian cohort (age range 0-23 months has detected TEL/AML1+ve (N = 9, E2A/PBX1+ve (N = 4, PML/RARA+ve (N = 4, and AML1/ETO+ve (N = 2 cases. Undoubtedly, the great majority of genetic events occurring in these patients arise prenatally. The environmental exposure to damaging agents that give rise to genetic changes prenatally may be accurately determined in infants since the window of exposure is limited and known. Several studies have shown maternal exposures that may give rise to leukemogenic changes. The Brazilian Collaborative Study Group of Infant Acute Leukemia has found that mothers exposed to dipyrone, pesticides and hormones had an increased chance to give birth to babies with infant acute leukemia [OR = 1.48 (95%CI = 1.05-2.07, OR = 2.27 (95%CI = 1.56-3.31 and OR = 9.08 (95%CI = 2.95-27.96], respectively. This review aims to summarize recent clues that have facilitated the elucidation of the biology of early childhood leukemias, with emphasis on infant acute leukemia in the Brazilian population.

  13. Acute childhood leukemia: Nursing care

    International Nuclear Information System (INIS)

    Zietz, Hallie A

    1997-01-01

    Modern therapy for childhood acute leukemia has provided a dramatically improved prognosis over that of just 30 years ago. In the early 1960's survival rates for acute lymphocytic leukemia (ALL) and acute myelogenous leukemia (AML) were 4% and 3%, respectively. By the 1980's survival rates had risen to 72% for all and 25% to 40% for AML. Today, a diagnosis of all carries an 80% survival rate and as high as a 90% survival rate for some low-risk subtypes. Such high cure rates depend on intense and complex, multimodal therapeutic protocols. Therefore, nursing care of the child with acute leukemia must meet the demands of complicated medical therapies and balance those with the needs of a sick child and their concerned family. An understanding of disease process and principles of medical management guide appropriate and effective nursing interventions. Leukemia is a malignant disorder of the blood and blood- forming organs (bone marrow, lymph nodes and spleen). Most believe that acute leukemia results from a malignant transformation of a single early haematopoietic stem cell that is capable of indefinite self-renewal. These immature cells of blasts do not respond to normal physiologic stimuli for differentiation and gradually become the predominant cell in the bone marrow

  14. NONBACTERIAL MYOSITIS

    Science.gov (United States)

    Crum-Cianflone, Nancy F.

    2010-01-01

    Infectious myositis is defined as an infection of a skeletal muscle. Infectious myositis is most commonly caused by bacteria; however, a variety of viral, parasitic, and fungal agents may also cause myositis. The pathogenesis of nonbacterial infectious myositis is via direct infection of the musculature or immune mechanisms. Symptoms typically include muscular pain, tenderness, swelling, and/or weakness. The diagnosis of the specific microbe is often suggested by the presence of concordant clinical signs and symptoms, a detailed medical/travel history, and laboratory data. For example, immunocompromised hosts have a heightened risk of fungal myositis, whereas the presence of a travel history to an endemic location and/or eosinophilia may suggest a parasitic cause. Definitive diagnosis requires detecting the organism by specific laboratory testing including serologies, histopathology, and/or cultures. Treatment entails antimicrobial agents against the pathogen, with consideration for surgical drainage for focal purulent collections within the musculature. PMID:21308520

  15. Acute myositis: an unusual and severe side effect of docetaxel: a case report and literature review.

    Science.gov (United States)

    Rochigneux, Philippe; Schleinitz, Nicolas; Ebbo, Mikael; Aymonier, Marie; Pourroy, Bertrand; Boissier, Romain; Salas, Sébastien; Deville, Jean-Laurent

    2018-06-01

    Docetaxel is an antimicrotubules cytotoxic agent prescribed widely by medical oncologists in multiple tumor types (breast, lung, prostate, stomach, head, and neck). However, the side effects of docetaxel are numerous (cytopenia, peripheral edema, myalgia, arthralgia, alopecia, and sensitive neuropathy) and recent concerns have been raised about neutropenic enterocolitis in France. Here, we report the case of a 57-year-old patient with metastatic prostatic cancer, who developed a severe myositis and fasciitis grade IV 1 week after his second docetaxel infusion. We reviewed the five cases of docetaxel-related myositis described in the literature, and found that most of them occurred in patients with diabetes (n=5/5) or hypertension (n=4/5). A vascular toxicity may explain this severe complication, and patients with diabetes or hypertension should be monitored closely in the context of a docetaxel chemotherapy.

  16. Global Characteristics of Childhood Acute Promyelocytic Leukemia

    Science.gov (United States)

    Zhang, L; Samad, A; Pombo-de-Oliveira, MS; Scelo, G; Smith, MT; Feusner, J; Wiemels, JL; Metayer, C

    2014-01-01

    Acute promyelocytic leukemia (APL) comprises approximately 5–10% of childhood acute myeloid leukemia (AML) cases in the US. While variation in this percentage among other populations was noted previously, global patterns of childhood APL have not been thoroughly characterized. In this comprehensive review of childhood APL, we examined its geographic pattern and the potential contribution of environmental factors to observed variation. In 142 studies (spanning >60 countries) identified, variation was apparent—de novo APL represented from 2% (Switzerland) to >50% (Nicaragua) of childhood AML in different geographic regions. Because a limited number of previous studies addressed specific environmental exposures that potentially underlie childhood APL development, we gathered 28 childhood cases of therapy-related APL, which exemplified associations between prior exposures to chemotherapeutic drugs/radiation and APL diagnosis. Future population-based studies examining childhood APL patterns and the potential association with specific environmental exposures and other risk factors are needed. PMID:25445717

  17. Myositis Ossificans.

    Science.gov (United States)

    Walczak, Brian E; Johnson, Christopher N; Howe, B Matthew

    2015-10-01

    Myositis ossificans is a self-limiting, benign ossifying lesion that can affect any type of soft tissue, including subcutaneous fat, tendons, and nerves. It is most commonly found in muscle as a solitary lesion. Ossifying soft-tissue lesions historically have been inconsistently classified. Fundamentally, myositis ossificans can be categorized into nonhereditary and hereditary types, with the latter being a distinct entity with a separate pathophysiology and treatment approach. The etiology of myositis ossificans is variable; however, clinical presentation generally is characterized by an ossifying soft-tissue mass. Advanced cross-sectional imaging alone can be nonspecific and may appear to be similar to more sinister etiologies. Therefore, the evaluation of a suspicious soft-tissue mass often necessitates multiple imaging modalities for accurate diagnosis. When imaging is indeterminate, biopsy may be required for a histologic diagnosis. However, histopathology varies based on stage of evolution. The treatment of myositis ossificans is complex and is often made in a multidisciplinary fashion because accurate diagnosis is fundamental to a successful outcome. Copyright 2015 by the American Academy of Orthopaedic Surgeons.

  18. Focal myositis

    International Nuclear Information System (INIS)

    Galloway, H.R.; Dahlstrom, J.E.; Bennett, G.M.

    2001-01-01

    Focal myositis is a rare, benign focal inflammation of muscle. The lesion often presents as a mass that may be mistaken for a soft tissue sarcoma. This report describes the MRI and histopathological features of a case and illustrates how the diagnosis may be suspected on the basis of the MR findings. Copyright (2001) Blackwell Science Pty Ltd

  19. MANAGEMENT OF ACUTE RENAL FAILURE WITH DELAYED HYPERCALCEMIA SECONDARY TO SARCOCYSTIS NEURONA-INDUCED MYOSITIS AND RHABDOMYOLYSIS IN A CALIFORNIA SEA LION (ZALOPHUS CALIFORNIANUS).

    Science.gov (United States)

    Alexander, Amy B; Hanley, Christopher S; Duncan, Mary C; Ulmer, Kyle; Padilla, Luis R

    2015-09-01

    A 3-yr-old captive-born California sea lion (Zalophus californianus) developed Sarcocystis neurona-induced myositis and rhabdomyolysis that led to acute renal failure. The sea lion was successfully managed with fluid therapy, antiprotozoals, antibiotics, anti-inflammatories, antiemetics, gastroprotectants, and diuretics, but developed severe delayed hypercalcemia, a syndrome identified in humans after traumatic or exertion-induced rhabdomyolysis. Treatment with calcitonin was added to the management, and the individual recovered fully. The case emphasizes that animals with rhabdomyolysis-induced renal failure risk developing delayed hypercalcemia, which may be life threatening, and calcium levels should be closely monitored past the resolution of renal failure.

  20. Antisynthetase syndrome (ASS) presenting as acute respiratory distress syndrome (ARDS) in a patient without myositis features.

    Science.gov (United States)

    Kanchustambham, Venkat Kiran; Saladi, Swetha; Mahmoudassaf, Sarah; Patolia, Setu

    2016-12-09

    A woman aged 61 years presented to the emergency room with a 1-week history of dyspnoea on exertion and dry cough. X-ray of the chest showed diffuse interstitial opacities and was started on antibiotics and furosemide, and despite these measures, patient's respiratory status worsened, prompting endotracheal intubation. CT of the chest showed diffuse bilateral ground glass opacities and underwent bronchoscope with trans-bronchial biopsy that showed chronic bronchitis. Pt was empirically started on intravenous steroids due to concerns for interstitial lung disease (ILD). Autoimmune work up was sent and underwent video-assisted thoracoscopic surgery-guided biopsy of the lung that showed non-specific interstitial pattern with fibrosis. The patient was diagnosed as having antisynthetase syndrome with pulmonary involvement (ILD) as the cause of her acute respiratory failure. Azathioprine was started as steroid-sparing agent and was weaned off the ventilator to a tracheostomy collar and discharged to long-term rehabilitation centre. 2016 BMJ Publishing Group Ltd.

  1. Acute Non-Traumatic Abdominal Pain in Childhood at Kenyatta ...

    African Journals Online (AJOL)

    Background The assessment and diagnosis of acute abdominal pain in childhood is clinically challenging. The epidemiologic correlates differ for different paediatric age groups and settings. Objectives To determine the clinical spectrum of acute abdominal pain in childhood at a referral Kenyan public hospital. Design

  2. Epigenetic analysis of childhood acute lymphoblastic leukemia.

    Science.gov (United States)

    Dunwell, Thomas L; Hesson, Luke B; Pavlova, Tatiana; Zabarovska, Veronika; Kashuba, Vladimir; Catchpoole, Daniel; Chiaramonte, Raffaella; Brini, Anna T; Griffiths, Mike; Maher, Eamonn R; Zabarovsky, Eugene; Latif, Farida

    2009-04-01

    We used a chromosome 3 wide NotI microarray for identification of epigenetically inactivated genes in childhood acute lymphoblastic leukemia (ALL). Three novel genes demonstrated frequent methylation in childhood ALL. PPP2R3A (protein phosphatase 2, regulatory subunit B", alpha) was frequently methylated in T (69%) and B (82%)-ALL. Whilst FBLN2 (fibulin 2) and THRB (thyroid hormone receptor, beta) showed frequent methylation in B-ALL (58%; 56% respectively), but were less frequently methylated in T-ALL (17% for both genes). Recently it was demonstrated that BNC1 (Basonuclin 1) and MSX1 (msh homeobox 1) were frequently methylated across common epithelial cancers. In our series of childhood ALL BNC1 was frequently methylated in both T (77%) and B-ALL (79%), whilst MSX1 showed T-ALL (25%) specific methylation. The methylation of the above five genes was cancer specific and expression of the genes could be restored in methylated leukemia cell lines treated with 5-aza-2'-deoxycytidine. This is the first report demonstrating frequent epigenetic inactivation of PPP2R3A, FBLN2, THRB, BNC1 and MSX1 in leukemia. The identification of frequently methylated genes showing cancer specific methylation will be useful in developing early cancer detection screens and for targeted epigenetic therapies.

  3. Myositis ossificans: magnetic resonance images

    International Nuclear Information System (INIS)

    Dosda, R.; Marti-Bonmati, L.; Concepcion, L.; Galant, J.

    1999-01-01

    Myositis ossificans is characterized by a benign, self-limiting, ossifying mass of the white tissue. In the present report, we describe the magnetic resonance (MR) images in three cases of myositis ossificans in pediatric patients, correlating the MR findings with those obtained with other radiological studies. The lesions were detected in three patients, two boys and one girl, ranging in age between 10 and 14 years. The nature of the lesion was confirmed histologically in all three cases. The MR images were obtained using superconductive units at 0.5 Teslas, with T1 and T2-weighted spin-echo and STIR sequences. In two patients, gadolinium-enhanced T1-weighted images were also obtained. As in any process of maturation, the proliferation/maturation ratio depends on the moment in the course of the lesion, which affects its MR features,. In acute phases, the soft tissue mass with an intraosseous, perilesional adematous reaction predominates, while annular calcification and lesser edema are characteristic of subacute episode. Myositis ossificans is very rare in children. The inflammatory response may present a radiological pattern difficult to distinguish from that of aggressive tumor or infection, especially in the acute phase. (Author) 7 refs

  4. [Acute scrotal pain in childhood: legal pitfalls].

    Science.gov (United States)

    Bader, Pia; Hugemann, Christoph; Frohneberg, Detlef

    2017-12-01

    Acute scrotal pain in childhood is an emergency.Sudden scrotal pain may be caused by a variety of diseases. Therefore, it is important to carefully consider the specific medical history and possible differential diagnoses in each case for fast and decisive action (e. g. in case of testicular torsion). As minors lack the capacity for consent, it is absolutely necessary to obtain consent from their legal guardian. However, obtaining consent in the available time frame can cause organisational challenges in an acute emergency, which may lead to situations in the daily routine where a therapeutic decision needs to be taken (including surgery) without legal security based on consent by the guardian. In some cases, the child's consent also needs to be taken into account, depending on its age and development.For the physician and surgeon in charge, the legal evaluation of the case at hand and therewith the obtainment of legal security are of great significance. © Georg Thieme Verlag KG Stuttgart · New York.

  5. Hepatitis E-induced severe myositis.

    Science.gov (United States)

    Mengel, Annerose M; Stenzel, Werner; Meisel, Andreas; Büning, Carsten

    2016-02-01

    Hepatitis E virus (HEV) is endemic in Asian and African countries but is rarely reported in Western countries. Although there are some prominent neurological manifestations, HEV is rarely recognized by neurologists. This is a case report of myositis induced by HEV. We report the life-threatening case of a 57-year-old man with flaccid tetraparesis due to myositis, acute hepatitis, and renal failure caused by HEV infection. Muscle biopsy revealed scattered myofiber necrosis with a diffuse, mild lymphomonocytic infiltrate in the endomysium and perimysium. Because the patient suffered from an acute HEV infection with a rapidly progressive course of severe myopathy, we started ribavirin treatment. He recovered partially within 3 weeks and recovered fully within 6 months. This case highlights a neurological manifestation of endemic HEV infection with severe myositis in a patient with alcoholic chronic liver disease. Ribavirin treatment is effective in severe HEV infection and may also lead to rapid neurological recovery. © 2015 Wiley Periodicals, Inc.

  6. Childhood Acute Myeloid Leukemia Treatment (PDQ®)—Patient Version

    Science.gov (United States)

    Childhood acute myeloid leukemia and other myeloid malignancies treatment may include chemotherapy, radiation therapy, stem cell transplant, and targeted therapy. Learn more about AML and myelodysplastic/myeloproliferative diseases in this expert-reviewed summary.

  7. Validation and clinical significance of the Childhood Myositis Assessment Scale for assessment of muscle function in the juvenile idiopathic inflammatory myopathies.

    Science.gov (United States)

    Huber, Adam M; Feldman, Brian M; Rennebohm, Robert M; Hicks, Jeanne E; Lindsley, Carol B; Perez, Maria D; Zemel, Lawrence S; Wallace, Carol A; Ballinger, Susan H; Passo, Murray H; Reed, Ann M; Summers, Ronald M; White, Patience H; Katona, Ildy M; Miller, Frederick W; Lachenbruch, Peter A; Rider, Lisa G

    2004-05-01

    To examine the measurement characteristics of the Childhood Myositis Assessment Scale (CMAS) in children with juvenile idiopathic inflammatory myopathy (juvenile IIM), and to obtain preliminary data on the clinical significance of CMAS scores. One hundred eight children with juvenile IIM were evaluated on 2 occasions, 7-9 months apart, using various measures of physical function, strength, and disease activity. Interrater reliability, construct validity, and responsiveness of the CMAS were examined. The minimum clinically important difference (MID) and CMAS scores corresponding to various degrees of physical disability were estimated. The intraclass correlation coefficient for 26 patients assessed by 2 examiners was 0.89, indicating very good interrater reliability. The CMAS score correlated highly with the Childhood Health Assessment Questionnaire (C-HAQ) score and with findings on manual muscle testing (MMT) (r(s) = -0.73 and 0.73, respectively) and moderately with physician-assessed global disease activity and skin activity, parent-assessed global disease severity, and muscle magnetic resonance imaging (r(s) = -0.44 to -0.61), thereby demonstrating good construct validity. The standardized response mean was 0.81 (95% confidence interval 0.53, 1.09) in patients with at least 0.8 cm improvement on a 10-cm visual analog scale for physician-assessed global disease activity, indicating strong responsiveness. In bivariate regression models predicting physician-assessed global disease activity, MMT remained significant in models containing the CMAS (P = 0.03) while the C-HAQ did not (P = 0.4). Estimates of the MID ranged from 1.5 to 3.0 points on a 0-52-point scale. CMAS scores corresponding to no, mild, mild-to-moderate, and moderate physical disability, respectively, were 48, 45, 39, and 30. The CMAS exhibits good reliability, construct validity, and responsiveness, and is therefore a valid instrument for the assessment of physical function, muscle strength, and

  8. Childhood Acute Lymphoblastic Leukemia: Progress Through Collaboration

    Science.gov (United States)

    Yang, Jun J.; Hunger, Stephen P.; Pieters, Rob; Schrappe, Martin; Biondi, Andrea; Vora, Ajay; Baruchel, André; Silverman, Lewis B.; Schmiegelow, Kjeld; Escherich, Gabriele; Horibe, Keizo; Benoit, Yves C.M.; Izraeli, Shai; Yeoh, Allen Eng Juh; Liang, Der-Cherng; Downing, James R.; Evans, William E.; Relling, Mary V.; Mullighan, Charles G.

    2015-01-01

    Purpose To review the impact of collaborative studies on advances in the biology and treatment of acute lymphoblastic leukemia (ALL) in children and adolescents. Methods A review of English literature on childhood ALL focusing on collaborative studies was performed. The resulting article was reviewed and revised by the committee chairs of the major ALL study groups. Results With long-term survival rates for ALL approaching 90% and the advent of high-resolution genome-wide analyses, several international study groups or consortia were established to conduct collaborative research to further improve outcome. As a result, treatment strategies have been improved for several subtypes of ALL, such as infant, MLL-rearranged, Philadelphia chromosome–positive, and Philadelphia chromosome–like ALL. Many recurrent genetic abnormalities that respond to tyrosine kinase inhibitors and multiple genetic determinants of drug resistance and toxicities have been identified to help develop targeted therapy. Several genetic polymorphisms have been recognized that show susceptibility to developing ALL and that help explain the racial/ethnic differences in the incidence of ALL. Conclusion The information gained from collaborative studies has helped decipher the heterogeneity of ALL to help improve personalized treatment, which will further advance the current high cure rate and the quality of life for children and adolescents with ALL. PMID:26304874

  9. Recurrent Bilateral Focal Myositis.

    Science.gov (United States)

    Nagafuchi, Hiroko; Nakano, Hiromasa; Ooka, Seido; Takakuwa, Yukiko; Yamada, Hidehiro; Tadokoro, Mamoru; Shimojo, Sadatomo; Ozaki, Shoichi

    This report describes a rare case of recurrent bilateral focal myositis and its successful treatment via methotrexate. A 38-year-old man presented myalgia of the right gastrocnemius in May 2005. Magnetic resonance imaging showed very high signal intensity in the right gastrocnemius on short-tau inversion recovery images. A muscle biopsy revealed inflammatory CD4+ cell-dominant myogenic change. Focal myositis was diagnosed. The first steroid treatment was effective. Tapering of prednisolone, however, repeatedly induced myositis relapse, which progressed to multiple muscle lesions of both lower limbs. Initiation of methotrexate finally allowed successful tapering of prednisolone, with no relapse in the past 4 years.

  10. Childhood vaccinations and risk of acute lymphoblastic leukaemia in children

    DEFF Research Database (Denmark)

    Søegaard, Signe Holst; Rostgaard, Klaus; Schmiegelow, Kjeld

    2017-01-01

    information on ALL subtypes. Using Cox regression, we estimated hazard ratios (HRs) comparing vaccinated with unvaccinated children.Results: Childhood ALL was diagnosed in 490 children during 10 829 194 person-years of follow-up. Neither the total number of vaccine doses received nor exposure to each......Background: It has been proposed that childhood vaccinations protect against acute lymphoblastic leukaemia (ALL) in children by modulation of future responses to common infections in childhood. However, the available studies provide inconsistent findings, and population-based cohort studies...... with longitudinal information on vaccinations are lacking.Methods: In a register-based cohort of all children born in Denmark from 1 January 1990 to 31 December 2008, followed up until age 15 years or 31 December 2009 (n=1 225 404), we evaluated exposure to childhood vaccination and risk of childhood ALL, including...

  11. Purulent myositis of the thigh as a presentation of perforated low rectal cancer.

    Science.gov (United States)

    Jenkins, V; Steinke, J; Rajendran, N; Kumar, D

    2018-03-01

    Purulent myositis is an acute, intramuscular bacterial infection involving abscess formation most commonly affecting the quadriceps, hamstring and gluteal muscles. We present a case of extensive purulent myositis of the thigh and lower leg caused by bowel perforation below the peritoneal reflection secondary to rectal cancer. Cases of lower limb and perineal purulent myositis should raise suspicion of rectal perforation and should prompt investigations to exclude rectal malignancy.

  12. Adductor muscle pyo-myositis simulating appendicitis: CT and MR imaging findings

    International Nuclear Information System (INIS)

    Coumbaras, M.; Le Hir, P.; Jomaah, N.; Arrive, L.; Tubiana, J.M.

    2001-01-01

    Pyo-myositis is a primary bacterial infection of skeletal muscle. This infection tends to occur in the large muscles of the lower extremity. Pyo-myositis of the proximal muscles of the thigh can simulate acute abdominal disease. Early diagnosis improves the outcome. Delayed diagnosis may lead to septicemia and shock. We report the CT and MRI findings in a patient with pyo-myositis of the proximal muscles of the thigh. (authors)

  13. Inclusion-Body Myositis: Diagnosis

    Science.gov (United States)

    ... for MDA Blog Donate Search MDA.org Close Inclusion-Body Myositis (IBM) Diagnosis As with other muscle diseases, a doctor diagnoses inclusion-body myositis (IBM) by considering the individual’s personal ...

  14. Treatment-related mortality in relapsed childhood acute lymphoblastic leukemia

    DEFF Research Database (Denmark)

    Oskarsson, Trausti; Söderhäll, Stefan; Arvidson, Johan

    2018-01-01

    BACKGROUND: Treatment of relapsed childhood acute lymphoblastic leukemia (ALL) is particularly challenging due to the high treatment intensity needed to induce and sustain a second remission. To improve results, it is important to understand how treatment-related toxicity impacts survival...

  15. Pharmacogenetics Influence Treatment Efficacy in Childhood Acute Lymphoblastic Leukemia

    DEFF Research Database (Denmark)

    Devidsen, M.L.; Dalhoff, K.; Schmiegelow, K.

    2008-01-01

    in treatment resistance and toxic side effects. As most childhood acute lymphoblastic leukemia treatment protocols include up to 13 different chemotherapeutic agents, the impact of individual SNPs has been difficult to evaluate. So far Focus has mainly been on the widely used glucocorticosteroids, methotrexate...

  16. Etiology of common childhood acute lymphoblastic leukemia: the adrenal hypothesis

    DEFF Research Database (Denmark)

    Schmiegelow, K.; Vestergaard, T.; Nielsen, S.M.

    2008-01-01

    The pattern of infections in the first years of life modulates our immune system, and a low incidence of infections has been linked to an increased risk of common childhood acute lymphoblastic leukemia (ALL). We here present a new interpretation of these observations--the adrenal hypothesis...

  17. Increase in hospital admissions for acute childhood asthma in Cape ...

    African Journals Online (AJOL)

    To determine whether hospital admissions for acute childhood asthma were rising in Cape Town in line with the experience of other countries, Red Cross War Memorial Children's Hospital's records for the period 1978 - 1990 were analysed. These were compared with total admissions for non-surgical causes and lower ...

  18. Second Malignant Neoplasms After Treatment of Childhood Acute Lymphoblastic Leukemia

    DEFF Research Database (Denmark)

    Schmiegelow, K.; Levinsen, Mette Frandsen; Attarbaschi, Andishe

    2013-01-01

    PURPOSE: Second malignant neoplasms (SMNs) after diagnosis of childhood acute lymphoblastic leukemia (ALL) are rare events. PATIENTS AND METHODS: We analyzed data on risk factors and outcomes of 642 children with SMNs occurring after treatment for ALL from 18 collaborative study groups between 19...

  19. Management of acute moderate and severe childhood malnutrition

    Science.gov (United States)

    Acute childhood malnutrition affects about a tenth of the world's children under 5 years of age, particularly those living in circumstances of extreme poverty in the developing world. Malnutrition is typically the result of an inadequate diet and is one of the most common diagnoses in children in he...

  20. Osteogenic toxicity in childhood acute lymphoblastic leukemia

    NARCIS (Netherlands)

    M.L. te Winkel (Mariël Lizet)

    2013-01-01

    textabstractBone mineral density (BMD) Our multi-center study in children treated according to the Dutch Childhood Oncology Group (DCOG)-ALL9 protocol showed a three-years cumulative incidence of fractures of 18%. BMD of ALL patients was lower than of healthy peers. The year after treatment

  1. Acute Renal Failure In Infancy and Childhood

    African Journals Online (AJOL)

    1974-10-19

    Oct 19, 1974 ... Single kidney + calculus in ureter ... Calculus in one ureter + acute glomeru- lonephritis ... Ureteric ... A careful history and physical examination will often provide clues to ..... variation in response and tolerance occurs; frequent.

  2. Childhood Acute Lymphoblastic Leukemia: Integrating Genomics into Therapy

    Science.gov (United States)

    Tasian, Sarah K; Loh, Mignon L; Hunger, Stephen P

    2015-01-01

    Acute lymphoblastic leukemia (ALL), the most common malignancy of childhood, is a genetically complex entity that remains a major cause of childhood cancer-related mortality. Major advances in genomic and epigenomic profiling during the past decade have appreciably enhanced knowledge of the biology of de novo and relapsed ALL and have facilitated more precise risk stratification of patients. These achievements have also provided critical insights regarding potentially targetable lesions for development of new therapeutic approaches in the era of precision medicine. This review delineates the current genetic landscape of childhood ALL with emphasis upon patient outcomes with contemporary treatment regimens, as well as therapeutic implications of newly identified genomic alterations in specific subsets of ALL. PMID:26194091

  3. Acute acquired comitant esotropia of childhood

    DEFF Research Database (Denmark)

    Hesgaard, Helena; Vinding, Troels

    2015-01-01

    acute onset of comitant esotropia, available data on ophthalmologic, orthoptic and neurologic examinations. Children with neurological signs, AACE recurrence or hyperopia followed. RESULTS...... no obvious neurological signs at onset. Four significant risk factors for intracranial disease were identified as follows: larger esodeviation at distance, recurrence of AACE, neuro signs (papilledema) and older age at onset (>6 years). CONCLUSION: In a large case series of children with AACE and by review...

  4. Relapsed childhood acute lymphoblastic leukemia in the Nordic countries

    DEFF Research Database (Denmark)

    Oskarsson, Trausti; Söderhäll, Stefan; Arvidson, Johan

    2016-01-01

    Relapse is the main reason for treatment failure in childhood acute lymphoblastic leukemia. Despite improvements in the up-front therapy, survival after relapse is still relatively poor, especially for high-risk relapses. The aims of this study were to assess outcomes following acute lymphoblastic...... leukemia relapse after common initial Nordic Society of Paediatric Haematology and Oncology protocol treatment; to validate currently used risk stratifications, and identify additional prognostic factors for overall survival. Altogether, 516 of 2735 patients (18.9%) relapsed between 1992 and 2011 and were...

  5. Idiopathic inflammatory myositis.

    Science.gov (United States)

    Tieu, Joanna; Lundberg, Ingrid E; Limaye, Vidya

    2016-02-01

    Knowledge on idiopathic inflammatory myopathy (IIM) has evolved with the identification of myositis-associated and myositis-specific antibodies, development of histopathological classification and the recognition of how these correlate with clinical phenotype and response to therapy. In this paper, we outline key advances in diagnosis and histopathology, including the more recent identification of antibodies associated with immune-mediated necrotising myopathy (IMNM) and inclusion body myositis (IBM). Ongoing longitudinal observational cohorts allow further classification of these patients with IIM, their predicted clinical course and response to specific therapies. Registries have been developed worldwide for this purpose. A challenging aspect in IIM, a multisystem disease with multiple clinical subtypes, has been defining disease status and clinically relevant improvement. Tools for assessing activity and damage are now recognised to be important in determining disease activity and guiding therapeutic decision-making. The International Myositis Assessment and Clinical Studies (IMACS) group has developed such tools for use in research and clinical settings. There is limited evidence for specific treatment strategies in IIM. With significant development in the understanding of IIM and improved classification, longitudinal observational cohorts and trials using validated outcome measures are necessary, to provide important information for evidence-based care in the clinical setting. Crown Copyright © 2016. Published by Elsevier Ltd. All rights reserved.

  6. [Autoantibody profile in myositis].

    Science.gov (United States)

    Allenbach, Y; Benveniste, O

    2014-07-01

    Patients suffering from muscular symptoms or with an increase of creatine kinase levels may present a myopathy. In such situations, clinicians have to confirm the existence of a myopathy and determine if it is an acquired or a genetic muscular disease. In the presence of an acquired myopathy after having ruled out an infectious, a toxic agent or an endocrine cause, physicians must identify which type of idiopathic myopathy the patient is presenting: either a myositis including polymyositis, dermatomyositis, and inclusion body myositis, or an immune-mediated necrotizing myopathy. Histopathology examination of a muscle biopsy is determinant but detection of autoantibody is now also crucial. The myositis-specific antibodies and myositis-associated antibodies lead to a serologic approach complementary to the histological classification, because strong associations of myositis-specific antibodies with clinical features and survival have been documented. The presence of anti-synthetase antibodies is associated with an original histopathologic pattern between polymyositis and dermatomyositis, and defines a syndrome where interstitial lung disease drives the prognosis. Anti-MDA-5 antibody are specifically associated with dermatomyositis, and define a skin-lung syndrome with a frequent severe disease course. Anti-TIF1-γ is also associated with dermatomyositis but its presence is frequently predictive of a cancer association whereas anti-MI2 is associated with the classical dermatomyositis. Two specific antibodies, anti-SRP and anti-HMGCR, are observed in patients with immune-mediated necrotizing myopathies and may be very useful to distinguish acquired myopathies from dystrophic muscular diseases in case of a slow onset and to allow the initiation of effective therapy. Copyright © 2013 Société nationale française de médecine interne (SNFMI). Published by Elsevier SAS. All rights reserved.

  7. Pure White Cell Aplasia and Necrotizing Myositis

    Directory of Open Access Journals (Sweden)

    Peter Geon Kim

    2016-01-01

    Full Text Available Pure white cell aplasia (PWCA is a rare hematologic disorder characterized by the absence of neutrophil lineages in the bone marrow with intact megakaryopoiesis and erythropoiesis. PWCA has been associated with autoimmune, drug-induced, and viral exposures. Here, we report a case of a 74-year-old female who presented with severe proximal weakness without pain and was found to have PWCA with nonspecific inflammatory necrotizing myositis and acute liver injury on biopsies. These findings were associated with a recent course of azithromycin and her daily use of a statin. Myositis improved on prednisone but PWCA persisted. With intravenous immunoglobulin and granulocyte-colony stimulating factor therapies, her symptoms and neutrophil counts improved and were sustained for months.

  8. Asparaginase-associated pancreatitis in childhood acute lymphoblastic leukaemia

    DEFF Research Database (Denmark)

    Wolthers, Benjamin O.; Frandsen, Thomas L.; Baruchel, André

    2017-01-01

    BACKGROUND: Survival for childhood acute lymphoblastic leukaemia surpasses 90% with contemporary therapy; however, patients remain burdened by the severe toxic effects of treatment, including asparaginase-associated pancreatitis. To investigate the risk of complications and risk of re......-exposing patients with asparaginase-associated pancreatitis to asparaginase, 18 acute lymphoblastic leukaemia trial groups merged data for this observational study. METHODS: Patient files from 26 trials run by 18 trial groups were reviewed on children (aged 1·0-17·9 years) diagnosed with t(9;22)-negative acute...... lymphoblastic leukaemia between June 1, 1996, and Jan 1, 2016, who within 50 days of asparaginase exposure developed asparaginase-associated pancreatitis. Asparaginase-associated pancreatitis was defined by at least two criteria: abdominal pain, pancreatic enzymes at least three times the upper limit of normal...

  9. Dietary management of acute diarrhoea in childhood.

    Science.gov (United States)

    Booth, I W

    1993-04-17

    Gastroenteritis in children is usually treated with the graded introduction of milk feeds after rehydration. Although having never been rigorously tested, the practice of gradually increasing milk strength over several days has been considered an appropriate means of warding against lactose intolerance and preventing sensitization to cow's milk antigens. These guidelines were formulated in Europe and North America and invariably lead to a reduction in nutrient intake. Malnourished children in developing countries, however, may experience an average 5-6 episodes of acute diarrhea per year and the nutrient effects are cumulative. A recent study from Latin America explored whether continued feeding is safe for infants under age 6 months and whether malnourished children respond adversely. Infants randomly assigned to receive full strength cow's milk immediately after rehydration did not have more treatment failures, higher stool outputs, or longer lasting diarrhea than those whose feeds were regarded to full strength over 48 hours. It is unclear, however, whether the youngest or more malnourished subjects were overrepresented in the treatment failures. Results also indicate that deciding to change treatment should not be dictated by the presence of reducing substances in the faeces; the majority of infants with reducing substances in their stools did well. This study offers the first scientific support for rapidly reintroducing full-strength milk formula after gastroenteritis is malnourished patients under 6 months of age. The 10% of infants in which dehydration recurs after reintroducing milk feeds are still difficult to manage. In the absence of yogurt or lactose-free formula, a locally-produced modular feed of chicken, starch, and vegetable oil may be suitable.

  10. Aetiology of childhood acute leukaemias: Current status of knowledge

    International Nuclear Information System (INIS)

    Rossig, C.; Juergens, H.

    2008-01-01

    Acute leukaemia is a consequence of malignant transformation of a haematopoietic progenitor cell. Molecular studies have revealed a prenatal origin of many childhood leukaemias. According to current models, a pre-leukaemic stem cell clone is generated by a first mutation in utero which, in a minority of children, progresses to leukaemia after receiving further postnatal genetic hits. The nature of pre- and postnatal events involved in leukemogenesis in children is not well understood. Although genetic predisposition and specific environmental exposures may account for individual cases, the bulk of childhood leukaemia cannot be explained by any of these factors. The higher incidence of the most common leukaemia subtype in affluent societies, as well as the age peak between 2-5 y, suggest a contributory role of socioeconomic factors. An abnormal immune response during delayed exposure to common infections provides a plausible mechanism for malignant progression of pre-leukaemic clones in a subgroup of children. As highlighted in this review, a common cause for all types and subtypes of childhood leukaemia is highly unlikely. Deeper insights into the pathogenesis of childhood leukaemia will rely on large-scale and combined epidemiological and bio-molecular studies. (authors)

  11. Inclusion body myositis.

    OpenAIRE

    Garlepp, M J; Mastaglia, F L

    1996-01-01

    The idiopathic inflammatory myopathies (IIM) are a heterogenous group of rare disorders that share many similarities. In addition to sporadic inclusion body myositis (IBM), these include dematomyositis (DM), polymyositis (PM), and autoimmune necrotizing myopathy (NM). For discussion of later three disorders, the reader is referred to the IIM review in this issue. IBM is the most common IIM after age 50. It typically presents with chronic insidious proximal leg and/or distal arm asymmetric mus...

  12. Focal myositis: A review.

    Science.gov (United States)

    Devic, P; Gallay, L; Streichenberger, N; Petiot, P

    2016-11-01

    Amongst the heterogeneous group of inflammatory myopathies, focal myositis stands as a rare and benign dysimmune disease. Although it can be associated with root and/or nerve lesions, traumatic muscle lesions and autoimmune diseases, its triggering factors remain poorly understood. Defined as an isolated inflammatory pseudotumour usually restricted to one skeletal muscle, clinical presentation of focal myositis is that of a rapidly growing solitary mass within a single muscle, usually in the lower limbs. Electromyography shows spontaneous activity associated with a myopathic pattern. MRI reveals a contrast enhanced enlarged muscle appearing hyper-intense on FAT-SAT T2 weighted images. Adjacent structures are spared and there are no calcifications. Serum creatine kinase (CK) levels are usually moderately augmented and biological markers of systemic inflammation are absent in most cases. Pathological histological features include marked variation in fibre size, inflammatory infiltrates mostly composed of T CD4+ lymphocytes and macrophages, degenerating/regenerating fibres and interstitial fibrosis. Differential diagnoses are numerous and include myositis of other origin with focal onset. Steroid treatment should be reserved for patients who present with major pain, nerve lesions, associated autoimmune disease, or elevated C reactive protein or CK. Copyright © 2016 Elsevier B.V. All rights reserved.

  13. Nanoparticle targeted therapy against childhood acute lymphoblastic leukemia

    Science.gov (United States)

    Satake, Noriko; Lee, Joyce; Xiao, Kai; Luo, Juntao; Sarangi, Susmita; Chang, Astra; McLaughlin, Bridget; Zhou, Ping; Kenney, Elaina; Kraynov, Liliya; Arnott, Sarah; McGee, Jeannine; Nolta, Jan; Lam, Kit

    2011-06-01

    The goal of our project is to develop a unique ligand-conjugated nanoparticle (NP) therapy against childhood acute lymphoblastic leukemia (ALL). LLP2A, discovered by Dr. Kit Lam, is a high-affinity and high-specificity peptidomimetic ligand against an activated α4β1 integrin. Our study using 11 fresh primary ALL samples (10 precursor B ALL and 1 T ALL) showed that childhood ALL cells expressed activated α4β1 integrin and bound to LLP2A. Normal hematopoietic cells such as activated lymphocytes and monocytes expressed activated α4β1 integrin; however, normal hematopoietic stem cells showed low expression of α4β1 integrin. Therefore, we believe that LLP2A can be used as a targeted therapy for childhood ALL. The Lam lab has developed novel telodendrimer-based nanoparticles (NPs) which can carry drugs efficiently. We have also developed a human leukemia mouse model using immunodeficient NOD/SCID/IL2Rγ null mice engrafted with primary childhood ALL cells from our patients. LLP2A-conjugated NPs will be evaluated both in vitro and in vivo using primary leukemia cells and this mouse model. NPs will be loaded first with DiD near infra-red dye, and then with the chemotherapeutic agents daunorubicin or vincristine. Both drugs are mainstays of current chemotherapy for childhood ALL. Targeting properties of LLP2A-conjugated NPs will be evaluated by fluorescent microscopy, flow cytometry, MTS assay, and mouse survival after treatment. We expect that LLP2A-conjugated NPs will be preferentially delivered and endocytosed to leukemia cells as an effective targeted therapy.

  14. Childhood acute lymphoblastic leukemia: from genome to patient

    International Nuclear Information System (INIS)

    Kolenova, A.

    2016-01-01

    Acute lymphoblastic leukemia is the most common malignant disease in childhood. During recent decades prognosis for children with acute leukemia has greatly improved, including the patients treated in the Slovak Republic. The prognosis for these patients has improved as a result of the systematic and well-organized international research efforts and clinical trials. The advent of new genomic technologies has provided new insights into leukemogenesis, identified many novel subtypes of leukemia, and triggered development of new therapeutic formulations. The success of treatment depends on stratifying patients into risk group and incorporating novel treatment strategies.The Slovak pediatric leukemia group is actively incorporated into these international clinical trials and the outcome for our patients is comparable to the results published in Western Europe. (author)

  15. Non-infectious chemotherapy-associated acute toxicities during childhood acute lymphoblastic leukemia therapy

    DEFF Research Database (Denmark)

    Schmiegelow, Kjeld; Müller, Klaus Gottlob; Mogensen, Signe Sloth

    2017-01-01

    During chemotherapy for childhood acute lymphoblastic leukemia, all organs can be affected by severe acute side effects, the most common being opportunistic infections, mucositis, central or peripheral neuropathy (or both), bone toxicities (including osteonecrosis), thromboembolism, sinusoidal...... useful risk factors, and across study groups there has been wide diversity in toxicity definitions, capture strategies, and reporting, thus hampering meaningful comparisons of toxicity incidences for different leukemia protocols. Since treatment of acute lymphoblastic leukemia now yields 5-year overall...... obstruction syndrome, endocrinopathies (especially steroid-induced adrenal insufficiency and hyperglycemia), high-dose methotrexate-induced nephrotoxicity, asparaginase-associated hypersensitivity, pancreatitis, and hyperlipidemia. Few of the non-infectious acute toxicities are associated with clinically...

  16. Non-infectious chemotherapy-associated acute toxicities during childhood acute lymphoblastic leukemia therapy

    Science.gov (United States)

    Schmiegelow, Kjeld; Müller, Klaus; Mogensen, Signe Sloth; Mogensen, Pernille Rudebeck; Wolthers, Benjamin Ole; Stoltze, Ulrik Kristoffer; Tuckuviene, Ruta; Frandsen, Thomas

    2017-01-01

    During chemotherapy for childhood acute lymphoblastic leukemia, all organs can be affected by severe acute side effects, the most common being opportunistic infections, mucositis, central or peripheral neuropathy (or both), bone toxicities (including osteonecrosis), thromboembolism, sinusoidal obstruction syndrome, endocrinopathies (especially steroid-induced adrenal insufficiency and hyperglycemia), high-dose methotrexate-induced nephrotoxicity, asparaginase-associated hypersensitivity, pancreatitis, and hyperlipidemia. Few of the non-infectious acute toxicities are associated with clinically useful risk factors, and across study groups there has been wide diversity in toxicity definitions, capture strategies, and reporting, thus hampering meaningful comparisons of toxicity incidences for different leukemia protocols. Since treatment of acute lymphoblastic leukemia now yields 5-year overall survival rates above 90%, there is a need for strategies for assessing the burden of toxicities in the overall evaluation of anti-leukemic therapy programs. PMID:28413626

  17. Inclusion body myositis.

    Science.gov (United States)

    Dimachkie, Mazen M; Barohn, Richard J

    2014-08-01

    The idiopathic inflammatory myopathies (IIMs) are a heterogeneous group of rare disorders that share many similarities. In addition to sporadic inclusion body myositis (IBM), these include dermatomyositis, polymyositis, and autoimmune necrotizing myopathy. IBM is the most common IIM after age 50 years. Muscle histopathology shows endomysial inflammatory exudates surrounding and invading nonnecrotic muscle fibers often accompanied by rimmed vacuoles and protein deposits. It is likely that IBM is has a prominent degenerative component. This article reviews the evolution of knowledge in IBM, with emphasis on recent developments in the field, and discusses ongoing clinical trials. Copyright © 2014 Elsevier Inc. All rights reserved.

  18. Computed tomography of orbital myositis

    International Nuclear Information System (INIS)

    Dresner, S.C.; Rothfus, W.E.; Slamovits, T.L.; Kennerdell, J.S.; Curtin, H.D.

    1984-01-01

    The computerized tomographic (CT) scans of 11 consecutive patients with orbital myositis were reviewed to better characterize the CT appearance of this condition. The findings in this series differed from those of previous reports in several ways. Multiple muscle involvement predominated. Bilateral involvement was more frequent than previously reported. Enlargement of the tendon as well as the muscle was a frequent finding, but a normal tendinous insertion did not preclude the diagnosis of orbital myositis. Although the CT appearance of orbital myositis is often helpful, the findings are not pathognomonic; correlation with history, clinical findings, and therapeutic response must be considered in making the diagnosis

  19. The EuroMyositis registry

    DEFF Research Database (Denmark)

    Lilleker, James B; Vencovsky, Jiri; Wang, Guochun

    2018-01-01

    AIMS: The EuroMyositis Registry facilitates collaboration across the idiopathic inflammatory myopathy (IIM) research community. This inaugural report examines pooled Registry data. METHODS: Cross-sectional analysis of IIM cases from 11 countries was performed. Associations between clinical subtyp...

  20. Myositis ossificans localisata pseudomalignant Form

    International Nuclear Information System (INIS)

    Grunt, J.; Jankovich, E.; Vasovicova, M.

    1994-01-01

    Authors presents computer tomography and angiographic findings of rare pseudomalignant form of myositis ossificans. Correct diagnosis achieved by complex evaluation of ascertain findings, including biopsy, enables proper treatment with excluding too radical therapy. 3 figs., 4 refs

  1. Side effects of treatment in childhood acute leukemia, 2

    International Nuclear Information System (INIS)

    Fujinami, Akira; Murakami, Mako; Sako, Masahiro; Takubo, Yoshiyuki; Nakagawa, Kimiko; Konishi, Shouzaburo; Tsujino, Giiti; Hata, Shinn; Koizumi, Yoshiko

    1989-01-01

    We evaluated delayed neurotoxicities in treatment of childhood acute leukemia. Of 28 patients treated over 2 years who were examined on computed tomography of brain scans, 7 patients had abnormal findings. These abnormalities included two cases of leukoencephalopathy, three cases of intracranial calcifications, and two of ventricular dilatation. These patients were under 6 years old at the onset of disease, especially under 3 years old. Also, delayed neurotoxicities developed after relapse of leukemia, especially CNS relapse. It was considered that these were caused by cranial irradiation, intravenous methotrexate injection, intrathecal methotrexate, and sometimes high-dose Ara-C therapy, etc. Most of the cases of leukoencephalopathy were associated with treatment of intermediate-dose or high-dose methotrexate after relapse. These abnormalities must be carefully considered in the treatment of younger children with leukemia and patients with relapse. (author)

  2. Adductor muscle pyo-myositis simulating appendicitis: CT and MR imaging findings; Pyomyosite des mulcles adducteurs mimant une appendicite aigue: aspects tomodensitometriques et IRM

    Energy Technology Data Exchange (ETDEWEB)

    Coumbaras, M.; Le Hir, P.; Jomaah, N.; Arrive, L.; Tubiana, J.M. [Hopital Saint Antoine, 75 - Paris (France)

    2001-04-01

    Pyo-myositis is a primary bacterial infection of skeletal muscle. This infection tends to occur in the large muscles of the lower extremity. Pyo-myositis of the proximal muscles of the thigh can simulate acute abdominal disease. Early diagnosis improves the outcome. Delayed diagnosis may lead to septicemia and shock. We report the CT and MRI findings in a patient with pyo-myositis of the proximal muscles of the thigh. (authors)

  3. Radiological evaluation of myositis ossificans

    International Nuclear Information System (INIS)

    Kwon, Yang Sook; Kim, Soo Han; Lim, Young Chae; Shin, Hyun Ja

    1986-01-01

    The 35 patients who have suffered from myositis ossificans were investigate for 11 years. They were post traumatic patients. They trauma was divided into 3 groups; spinal cord injury, direct injury (fracture) and mixed type involving both. We evaluated the age distribution, the frequency of myositis ossificans, predilection site, bilaterally and relation between predilection site and bilaterally to the type of trauma. The results are as follows; 1. The age distribution was highest in 4th decades (12 among 35 patients). 2. In regard to distribution of 35 patients, spinal cord injury were most common (15 cases, 43%), the fracture nextly common (14, 40%) and then mixed type (6, 17%). 3. Among 51 cases of myositis ossificans, the frequency was highest in spinal cord injury (25 cases, 49%), next was fracture (14, 27%). 4. The predilection site of myositis ossificans were thigh (18 cases, 35%), hip (17, 33%) and buttock (6, 12%). 5. In correlation between predilection site of myositis ossificans and level of spinal cord injury, hip is the most frequent site in thoracic injury. 6. The bilaterally of myositis ossificans is 39% (20 among 51 lesions).

  4. Cytogenetic Profile and Gene Mutations of Childhood Acute Lymphoblastic Leukemia

    Directory of Open Access Journals (Sweden)

    Nawaf Alkhayat

    2017-07-01

    Full Text Available Background: Childhood acute lymphoblastic leukemia (ALL is characterized by recurrent genetic aberrations. The identification of those abnormalities is clinically important because they are considered significant risk-stratifying markers. Aims: There are insufficient data of cytogenetic profiles in Saudi Arabian patients with childhood ALL leukemia. We have examined a cohort of 110 cases of ALL to determine the cytogenetic profiles and prevalence of FLT3 mutations and analysis of the more frequently observed abnormalities and its correlations to other biologic factors and patient outcomes and to compare our results with previously published results. Materials and methods: Patients —We reviewed all cases from 2007 to 2016 with an established diagnosis of childhood ALL. Of the 110 patients, 98 were B-lineage ALL and 12 T-cell ALL. All the patients were treated by UKALL 2003 protocol and risk stratified according previously published criteria. Cytogenetic analysis —Chromosome banding analysis and fluorescence in situ hybridization were used to detect genetic aberrations. Analysis of FLT3 mutations —Bone marrow or blood samples were screened for FLT3 mutations (internal tandem duplications, and point mutations, D835 using polymerase chain reaction methods. Result: Cytogenetic analysis showed chromosomal anomalies in 68 out of 102 cases with an overall incidence 66.7%. The most frequent chromosomal anomalies in ALL were hyperdiploidy, t(9;22, t(12;21, and MLL gene rearrangements. Our data are in accordance with those published previously and showed that FLT3 mutations are not common in patients with ALL (4.7% and have no prognostic relevance in pediatric patients with ALL. On the contrary, t(9;22, MLL gene rearrangements and hypodiploidy were signs of a bad prognosis in childhood ALL with high rate of relapse and shorter overall survival compared with the standard-risk group ( P  = .031.The event-free survival was also found to be worse ( P

  5. [Childhood acute lymphoblastic leukemia in Norway 1992-2000].

    Science.gov (United States)

    Kolmannskog, Svein; Flaegstad, Trond; Helgestad, Jon; Hellebostad, Marit; Zeller, Bernward; Glomstein, Anders

    2007-05-31

    Acute lymphoblastic leukemia is the most common malignancy in childhood. The survival rate has increased steadily over the last 40 years. All children aged 0-15 years and diagnosed in Norway in the period 1992-2000, were included in the study (n = 301). The patients were followed up until 1.1. 2005. The diagnosis was made in 301 children, 33 new cases per year (range 24 to 40) on average. The peak incidence was between 2 and 5 years. Four of 6 infants with acute lymphoblastic leukemia and all 4 with mature B-cell leukemia are alive. Two of the remaining 291 children died before treatment was started. 289 were all treated according to the common Nordic NOPHO-ALL 1992 protocol. All children achieved remission (99.7%), except for one who died before remission was achieved. 55 children (19%) relapsed. Radiation to the brain as part of central nervous system prophylaxis was given to just 10% of the children. The 10-year event-free survival (p-EFS) was 76%, and 244 of 289 (84%) were alive 4-13 years after the diagnosis was made. The data are comparable with the best international results.

  6. Acute intrascrotal pathology in childhood: color Doppler study

    International Nuclear Information System (INIS)

    Cinta Sanguesa, C.; Muro, D.; Cortina, H.; Moreno, A.

    1997-01-01

    To asses the utility of color Doppler ultrasound in the study of acute intrascrotal pathology in childhood. Seventy-five boys with evidence of an acute intrascrotal abnormality were studied by means of color Doppler ultrasound. A 7.5 MHz linear transducer was used. The most common findings was inflammatory disease (60%) which was indicated by the presence of hyperemia in color Doppler. Of the nine boys with testicular torsion (12%) two presented extravaginal torsion, with a complete absence of intratesticular vascularization. Intravaginal torsion was observed in seven patients, six of whom presented reduced vascularization in the abnormal testicle with respect to the healthy testicle. There was one false negative in which testicular vascularization was normal but 360 degree centigree torsion was found at surgery. In addition, there were seven cases of hydatid torsion (9.33%), four of idiopathic scrotal swelling (5.3%). two cases of intermittent torsion (2.6%) and one case of Shcolein-Henoch purpura (1.3%). The ultrasound findings were completely nornal in seven boys. Color Doppler is a rapid, noninvasive method for assessing testicular blood flow. The elevated sensitivity and specificity (85.7 and 100%, respectively, in our series) for testicular torsion make Doppler ultrasound a highly reliable method for the study of this disorder. (Author) 18 refs

  7. Targeting FLT3 Signaling in Childhood Acute Myeloid Leukemia

    Directory of Open Access Journals (Sweden)

    Amy N. Sexauer

    2017-11-01

    Full Text Available Acute myeloid leukemia (AML is the second most common leukemia of childhood and is associated with high rates of chemotherapy resistance and relapse. Clinical outcomes for children with AML treated with maximally intensive multi-agent chemotherapy lag far behind those of children with the more common acute lymphoblastic leukemia, demonstrating continued need for new therapeutic approaches to decrease relapse risk and improve long-term survival. Mutations in the FMS-like tyrosine kinase-3 receptor gene (FLT3 occur in approximately 25% of children and adults with AML and are associated with particularly poor prognoses. Identification and development of targeted FLT3 inhibitors represents a major precision medicine paradigm shift in the treatment of patients with AML. While further development of many first-generation FLT3 inhibitors was hampered by limited potency and significant toxicity due to effects upon other kinases, the more selective second- and third-generation FLT3 inhibitors have demonstrated excellent tolerability and remarkable efficacy in the relapsed/refractory and now de novo FLT3-mutated AML settings. While these newest and most promising inhibitors have largely been studied in the adult population, pediatric investigation of FLT3 inhibitors with chemotherapy is relatively recently ongoing or planned. Successful development of FLT3 inhibitor-based therapies will be essential to improve outcomes in children with this high-risk subtype of AML.

  8. INCLUSION BODY MYOSITIS

    Directory of Open Access Journals (Sweden)

    Luh Yeni Laksmini

    2014-09-01

    Full Text Available Inclusion body myositis (IBM merupakan penyakit inflamasi pada otot yang bersifat progresif dengan penyebab yang tidak diketahui dan tidak menunjukkan respon yang baik terhadap berbagai terapi. Gambaran histopatologi IBM ditandai dengan infiltrat sel-sel limfosit diantara ruangan endomisial, di dalam otot dan di sekitar otot dengan fokus-fokus inklusi di dalam miosit (rimmed vacuole serta beberapa serat otot terlihat atrofi dan nekrosis. Dilaporkan wanita, usia 46 tahun dengan IBM. Keluhan utama pasien berupa kelemahan pada kedua tangan, kaki kanan terasa berat jika diangkat sehingga susah berjalan. Pemeriksaan saraf sensorik ekstremitas dekstra dan sinistra dalam batas normal. Pemeriksaan enzim cretinine kinase meningkat secara dramatik. Pemeriksaan histopatologi dari biospi otot gastrocnemius menunjukkan gambaran yang sesuai untuk IBM dan telah dilakukan penanganan dengan pemberian oral methilprednisolon 3x32 mg dan mecobalmin 1x500ìg intravena, namun tidak menunjukkan respon yang baik terhadap terapi dan akhirnya pasien meninggal. [MEDICINA 2013;44:118-123].

  9. Myositis ossificans in hemophilia

    Energy Technology Data Exchange (ETDEWEB)

    Vas, W.; Cockshott, W.P.; Martin, R.F.; Pai, M.K.; Walker, I.

    1981-10-01

    A review of the radiographs of 60 hemophilia patients showed nine (15%) with ectopic new bone formation. Three of these patients had multiple sites of involvement. The high frequency discovered in this series contrasts with the paucity of descriptions to be found in the literature. This process of myositis ossificans affects the lower half of the body and probably represents dysplastic metaplasia developing at the site of an intramuscular hematoma when remote from bone, as well as ossification of hemorrhagic lesions related to the periosteum. In conventional radiographs anatomic localization of bone foci is difficult, but use of computed tomography permits precise identification of the affected muscle. There is negligible disability associated with this condition.

  10. Myositis ossificans in hemophilia

    International Nuclear Information System (INIS)

    Vas, W.; Cockshott, W.P.; Martin, R.F.; Pai, M.K.; Walker, I.

    1981-01-01

    A review of the radiographs of 60 hemophilia patients showed nine (15%) with ectopic new bone formation. Three of these patients had multiple sites of involvement. The high frequency discovered in this series contrasts with the paucity of descriptions to be found in the literature. This process of myositis ossificans affects the lower half of the body and probably represents dysplastic metaplasia developing at the site of an intramuscular hematoma when remote from bone, as well as ossification of hemorrhagic lesions related to the periosteum. In conventional radiographs anatomic localization of bone foci is difficult, but use of computed tomography permits precise identification of the affected muscle. There is negligible disability associated with this condition. (orig.)

  11. Myositis specific autoantibodies; specificity and clinical applications.

    NARCIS (Netherlands)

    Hengstman, G.J.D.

    2005-01-01

    The sera of about half of the patients with myositis contain autoantibodies that are specific for this group of diseases compared to other inflammatory connective tissue disorders. In a recent study we showed that these myositis specific autoantibodies (MSAs) are also specific for myositis as

  12. Morphoea with Myositis: A Rare Association

    Directory of Open Access Journals (Sweden)

    Mary Sommerlad

    2011-01-01

    Full Text Available In this case, we describe an unusual presentation of a young woman with a rash typical of morphoea (confirmed on biopsy, who went on to develop myositis in an atypical distribution. Although the association of myositis with diffuse systemic sclerosis is well described, the link with localised scleroderma (morphoea and myositis has not been described.

  13. Fetal Growth and Childhood Acute Lymphoblastic Leukemia: Findings from the Childhood Leukemia International Consortium (CLIC)

    Science.gov (United States)

    Milne, Elizabeth; Greenop, Kathryn R.; Metayer, Catherine; Schüz, Joachim; Petridou, Eleni; Pombo-de-Oliveira, Maria S.; Infante-Rivard, Claire; Roman, Eve; Dockerty, John D.; Spector, Logan G.; Koifman, Sérgio; Orsi, Laurent; Rudant, Jérémie; Dessypris, Nick; Simpson, Jill; Lightfoot, Tracy; Kaatsch, Peter; Baka, Margarita; Faro, Alessandra; Armstrong, Bruce K.; Clavel, Jacqueline; Buffler, Patricia A.

    2013-01-01

    Positive associations have been reported between measures of accelerated fetal growth and risk of childhood acute lymphoblastic leukemia (ALL). We investigated this association by pooling individual-level data from 12 case-control studies participating in the Childhood Leukemia International Consortium. Two measures of fetal growth – weight-for-gestational-age and proportion of optimal birth weight (POBW) – were analysed. Study-specific odds ratios (ORs) and 95% confidence intervals (CIs) were estimated using multivariable logistic regression, and combined in fixed effects meta-analyses. Pooled analyses of all data were also undertaken using multivariable logistic regression. Subgroup analyses were undertaken when possible. Data on weight for gestational age were available for 7,348 cases and 12,489 controls from all 12 studies and POBW data were available for 1,680 cases and 3,139 controls from three studies. The summary ORs from the meta-analyses were 1.24 (95% CI 1.13, 1.36) for children who were large for gestational age relative to appropriate for gestational age, and 1.16 (95% CI: 1.09, 1.24) for a one standard deviation increase in POBW. The pooled analyses produced similar results. The summary and pooled ORs for small-for-gestational-age children were 0.83 (95% CI: 0.75, 0.92) and 0.86 (95% CI 0.77, 0.95) respectively. Results were consistent across subgroups defined by sex, ethnicity and immunophenotype, and when the analysis was restricted to children who did not have high birth weight. The evidence that accelerated fetal growth is associated with a modest increased risk of childhood ALL is strong and consistent with known biological mechanisms involving insulin like growth factors. PMID:23754574

  14. Childhood Acute Lymphoblastic Leukemia and Indicators of Early Immune Stimulation: A Childhood Leukemia International Consortium Study

    Science.gov (United States)

    Rudant, Jérémie; Lightfoot, Tracy; Urayama, Kevin Y.; Petridou, Eleni; Dockerty, John D.; Magnani, Corrado; Milne, Elizabeth; Spector, Logan G.; Ashton, Lesley J.; Dessypris, Nikolaos; Kang, Alice Y.; Miller, Margaret; Rondelli, Roberto; Simpson, Jill; Stiakaki, Eftichia; Orsi, Laurent; Roman, Eve; Metayer, Catherine; Infante-Rivard, Claire; Clavel, Jacqueline

    2015-01-01

    The associations between childhood acute lymphoblastic leukemia (ALL) and several proxies of early stimulation of the immune system, that is, day-care center attendance, birth order, maternally reported common infections in infancy, and breastfeeding, were investigated by using data from 11 case-control studies participating in the Childhood Leukemia International Consortium (enrollment period: 1980–2010). The sample included 7,399 ALL cases and 11,181 controls aged 2–14 years. The data were collected by questionnaires administered to the parents. Pooled odds ratios and 95% confidence intervals were estimated by unconditional logistic regression adjusted for age, sex, study, maternal education, and maternal age. Day-care center attendance in the first year of life was associated with a reduced risk of ALL (odds ratio = 0.77, 95% confidence interval: 0.71, 0.84), with a marked inverse trend with earlier age at start (P < 0.0001). An inverse association was also observed with breastfeeding duration of 6 months or more (odds ratio = 0.86, 95% confidence interval: 0.79, 0.94). No significant relationship with a history of common infections in infancy was observed even though the odds ratio was less than 1 for more than 3 infections. The findings of this large pooled analysis reinforce the hypothesis that day-care center attendance in infancy and prolonged breastfeeding are associated with a decreased risk of ALL. PMID:25731888

  15. Cardiac function in survivors of childhood acute myeloid leukemia treated with chemotherapy only

    DEFF Research Database (Denmark)

    Jarfelt, Marianne; Andersen, Niels Holmark; Glosli, Heidi

    2015-01-01

    OBJECTIVES: We report cardiac function of patients treated for Childhood acute myeloid leukemia with chemotherapy only according to three consecutive Nordic protocols. METHODS: Ninety-eight of 138 eligible patients accepted examination with standardized echocardiography. Results were compared...

  16. Host genome variations and risk of infections during induction treatment for childhood acute lymphoblastic leukaemia

    DEFF Research Database (Denmark)

    Lund, Bendik; Wesolowska-Andersen, Agata; Lausen, Birgitte

    2014-01-01

    Objectives: To investigate association of host genomic variation and risk of infections during treatment for childhood acute lymphoblastic leukaemia (ALL). Methods: We explored association of 34 000 singlenucleotide polymorphisms (SNPs) related primarily to pharmacogenomics and immune function...

  17. High concordance of subtypes of childhood acute lymphoblastic leukemia within families

    DEFF Research Database (Denmark)

    Schmiegelow, K.; Thomsen, U Lautsen; Baruchel, A

    2012-01-01

    Polymorphic genes have been linked to the risk of acute lymphoblastic leukemia (ALL). Surrogate markers for a low burden of early childhood infections are also related to increased risk for developing childhood ALL. It remains uncertain, whether siblings of children with ALL have an increased risk...

  18. Magnetic resonance imaging of myositis ossificans: Analysis of seven cases

    International Nuclear Information System (INIS)

    De Smet, A.A.; Norris, M.A.; Fisher, D.R.

    1992-01-01

    Since magnetic resonance imaging (MRI) is commonly used to evaluate soft tissue masses, we analyzed eight MR examinations in seven patients with myositis ossificans to determine if typical patterns were present. One acute lesion had homogeneous intermediate signal intensity on T1-weighted images and high signal intensity on T2-weighted images. Two subacute lesions had low signal intensity margins with slightly increased signal intensity centers on T1-weighted images and very high signal intensity on T2-weighted images. Five chronic lesions had two different patterns. All five were well-defined with low signal intensity borders. Three had signal intensity patterns characteristic of fat on T1-weighted and T2-weighted images. The other two lesions had intermediate signal intensity on T1-weighted images and slightly increased signal intensity on T2-weighted images. We conclude that typical MR appearances of myositis ossificans do exist. A low signal intensity rim is a common finding. However, these patterns are not unique to myositis ossificans and resemble those that have been reported in other lesions. It is important to be aware of the spectrum of MR findings of myositis ossificans when considering the differential diagnosis of a soft tissue mass. (orig./MG)

  19. Childhood acute bacterial meningitis: clinical spectrum, bacteriological profile and outcome

    International Nuclear Information System (INIS)

    Bari, A.; Zeeshan, S.; Rathore, A. W.

    2016-01-01

    Objective: To determine the disease pattern, etiological agents and outcome of childhood acute bacterial meningitis. Study Design: A descriptive study. Place and Duration of Study: Department of Paediatric Medicine, The Children's Hospital, Lahore, from January to December 2012. Methodology: A total of 199 children between the ages of 1 month and 5 years, admitted with the diagnosis of meningitis on the basis of clinical findings and positive cerebrospinal fluid (CSF), were included. In all patients, complete blood count (CBC), CSF culture sensitivity, and blood culture sensitivity were performed. Data was analysed using SPSS version 20. Results: Out of 199 children, 127 (63.8%) were males with M:F ratio of 1.7:1. Mean age was 11.33 ± 12 months. Maximum numbers of children were < 1 year of age, 136 (68.3%). Only 90 (45.2%) children were fully vaccinated according to Expanded Program of Immunisation (EPI) schedule. Presentations with refusal to take feed (p=0.008) and with impaired conscious state were independent predictors of death (p=0.002). Complications were noted in 34 (17%) and were significantly associated with severe malnutrition (p=0.006) and altered conscious level at presentation (p < 0.001). The common pathogens identified on CSF culture were coagulase negative staphylococci (CoNS) in 11 (5.5%) and streptococcus pneumoniae in 5 (2.5%). Overall mortality was 10.1%. The commonest pathogen isolated from children who died was streptococcus pneumoniae (p=0.039). Conclusion: Acute bacterial meningitis mostly affected children under the age of 1 year. CSF culture revealed both Gram-positive and Gram-negative bacteria. The most common pathogen in children who died was streptococcus pneumoniae. (author)

  20. Myositis ossificans within the intercondylar notch treated arthroscopically

    International Nuclear Information System (INIS)

    Leung, Allen H.; Desai, Panna; Rybak, Leon D.; Rose, Donald J.

    2010-01-01

    We present a case of intraarticular myositis ossificans in the right knee of a child. Myositis ossificans (MO), though relatively rare in childhood and even more uncommon within a joint, should be included in the differential diagnosis of an intra-articular mass when indicated by the typical clinical, radiographic, and histologic findings. An 11-year-old male presented with a history of trauma to his right knee. Four weeks after the initial injury, an MRI demonstrated evidence of an ACL rupture with a ''cystic mass'' within the intercondylar notch along the anterior surface of the torn ligament. At subsequent arthroscopy, the mass noted on MRI was removed. The histology was consistent with MO. The authors believe this to be the first case of MO in the intercondylar notch detected by MRI, treated by arthroscopy, and confirmed by histology. (orig.)

  1. Myositis ossificans within the intercondylar notch treated arthroscopically

    Energy Technology Data Exchange (ETDEWEB)

    Leung, Allen H.; Desai, Panna [Hospital for Joint Diseases/New York University, Department of Pathology, New York, NY (United States); Rybak, Leon D. [Hospital for Joint Diseases/New York University, Department of Radiology, New York, NY (United States); Rose, Donald J. [Hospital for Joint Diseases/New York University, Department of Orthopedic Surgery, New York, NY (United States)

    2010-09-15

    We present a case of intraarticular myositis ossificans in the right knee of a child. Myositis ossificans (MO), though relatively rare in childhood and even more uncommon within a joint, should be included in the differential diagnosis of an intra-articular mass when indicated by the typical clinical, radiographic, and histologic findings. An 11-year-old male presented with a history of trauma to his right knee. Four weeks after the initial injury, an MRI demonstrated evidence of an ACL rupture with a ''cystic mass'' within the intercondylar notch along the anterior surface of the torn ligament. At subsequent arthroscopy, the mass noted on MRI was removed. The histology was consistent with MO. The authors believe this to be the first case of MO in the intercondylar notch detected by MRI, treated by arthroscopy, and confirmed by histology. (orig.)

  2. Sarcocystis nesbitti causes acute, relapsing febrile myositis with a high attack rate: description of a large outbreak of muscular sarcocystosis in Pangkor Island, Malaysia, 2012.

    Directory of Open Access Journals (Sweden)

    Claire M Italiano

    2014-05-01

    Full Text Available BACKGROUND: From the 17th to 19th January 2012, a group of 92 college students and teachers attended a retreat in a hotel located on Pangkor Island, off the west coast of Peninsular Malaysia. Following the onset of symptoms in many participants who presented to our institute, an investigation was undertaken which ultimately identified Sarcocystis nesbitti as the cause of this outbreak. METHODOLOGY/PRINCIPAL FINDINGS: All retreat participants were identified, and clinical and epidemiological information was obtained via clinical review and self-reported answers to a structured questionnaire. Laboratory, imaging and muscle biopsy results were evaluated and possible sources of exposure, in particular water supply, were investigated. At an average of 9-11 days upon return from the retreat, 89 (97% of the participants became ill. A vast majority of 94% had fever with 57% of these persons experiencing relapsing fever. Myalgia was present in 91% of patients. Facial swelling from myositis of jaw muscles occurred in 9 (10% patients. The median duration of symptoms was 17 days (IQR 7 to 30 days; range 3 to 112. Out of 4 muscle biopsies, sarcocysts were identified in 3. S. nesbitti was identified by PCR in 3 of the 4 biopsies including one biopsy without observed sarcocyst. Non-Malaysians had a median duration of symptoms longer than that of Malaysians (27.5 days vs. 14 days, p = 0.001 and were more likely to experience moderate or severe myalgia compared to mild myalgia (83.3% vs. 40.0%, p = 0.002. CONCLUSIONS/SIGNIFICANCE: The similarity of the symptoms and clustered time of onset suggests that all affected persons had muscular sarcocystosis. This is the largest human outbreak of sarcocystosis ever reported, with the specific Sarcocystis species identified. The largely non-specific clinical features of this illness suggest that S. nesbitti may be an under diagnosed infection in the tropics.

  3. Sarcocystis nesbitti causes acute, relapsing febrile myositis with a high attack rate: description of a large outbreak of muscular sarcocystosis in Pangkor Island, Malaysia, 2012.

    Science.gov (United States)

    Italiano, Claire M; Wong, Kum Thong; AbuBakar, Sazaly; Lau, Yee Ling; Ramli, Norlisah; Syed Omar, Sharifah Faridah; Kahar Bador, Maria; Tan, Chong Tin

    2014-05-01

    From the 17th to 19th January 2012, a group of 92 college students and teachers attended a retreat in a hotel located on Pangkor Island, off the west coast of Peninsular Malaysia. Following the onset of symptoms in many participants who presented to our institute, an investigation was undertaken which ultimately identified Sarcocystis nesbitti as the cause of this outbreak. All retreat participants were identified, and clinical and epidemiological information was obtained via clinical review and self-reported answers to a structured questionnaire. Laboratory, imaging and muscle biopsy results were evaluated and possible sources of exposure, in particular water supply, were investigated. At an average of 9-11 days upon return from the retreat, 89 (97%) of the participants became ill. A vast majority of 94% had fever with 57% of these persons experiencing relapsing fever. Myalgia was present in 91% of patients. Facial swelling from myositis of jaw muscles occurred in 9 (10%) patients. The median duration of symptoms was 17 days (IQR 7 to 30 days; range 3 to 112). Out of 4 muscle biopsies, sarcocysts were identified in 3. S. nesbitti was identified by PCR in 3 of the 4 biopsies including one biopsy without observed sarcocyst. Non-Malaysians had a median duration of symptoms longer than that of Malaysians (27.5 days vs. 14 days, p = 0.001) and were more likely to experience moderate or severe myalgia compared to mild myalgia (83.3% vs. 40.0%, p = 0.002). The similarity of the symptoms and clustered time of onset suggests that all affected persons had muscular sarcocystosis. This is the largest human outbreak of sarcocystosis ever reported, with the specific Sarcocystis species identified. The largely non-specific clinical features of this illness suggest that S. nesbitti may be an under diagnosed infection in the tropics.

  4. Childhood Acute Myeloid Leukemia Treatment (PDQ®)—Health Professional Version

    Science.gov (United States)

    Acute myeloid leukemia (AML), juvenile myelomonocytic leukemia (JMML), acute promyelocytic leukemia (APL) and chronic myeloid leukemia (CML) account for about 20% of childhood myeloid leukemias. Other myeloid malignancies include transient abnormal myelopoiesis and myelodysplastic syndrome. Get detailed information about the classification, clinical presentation, diagnostic and molecular evaluation, prognosis, and treatment of newly diagnosed and recurrent disease in this summary for clinicians.

  5. Myositis specific autoantibodies: changing insights in pathophysiology and clinical associations.

    NARCIS (Netherlands)

    Hengstman, G.J.D.; Engelen, B.G.M. van; Venrooij, W.J.W. van

    2004-01-01

    PURPOSE OF REVIEW: Defined autoantibodies are found in about half of the patients with myositis. Traditionally, these autoantibodies have been divided into myositis specific autoantibodies (MSAs) and myositis associated autoantibodies. Several studies have shown that MSAs are associated with

  6. Potential Environmental Triggers of Myositis

    Science.gov (United States)

    2012-10-01

    expression disturbances in myositis patient samples at the whole genome level. With our collaborators at the Karolinska Institute and Genpathway, Inc. we... Karolinska Institute in Stockholm, Sweden. Aim 1 Methods: A total of 500 ng of genomic DNA was used for bisulfate conversion using a Bisulfite

  7. Inclusion body myositis. Clinical aspects

    NARCIS (Netherlands)

    Cox, Fieke Maria Elisabeth

    2014-01-01

    Sporadische inclusion body myositis (IBM) is een van de meest voor voorkomende verworven spierziekte die ontstaat na het 50e levensjaar. In dit proefschrift worden de klinische aspecten van sporadische IBM beschreven. Uit de studie met betrekking tot het natuurlijk beloop blijkt dat de ziekte niet

  8. Premature atherosclerosis after treatment for acute lymphoblastic leukemia in childhood

    Directory of Open Access Journals (Sweden)

    Elżbieta Sadurska

    2018-03-01

    Survivors of childhood ALL in the examined group demonstrated elevated concentrations of selected new biomarkers and increased IMT values, compared to controls, which may confirm the occurrence of endothelial injuries in blood vessels. This study indicates that subjects treated for childhood malignancy are at a higher risk of prematurely developing atherosclerosis.

  9. Bacterial, Fungal, Parasitic, and Viral Myositis

    OpenAIRE

    Crum-Cianflone, Nancy F.

    2008-01-01

    Infectious myositis may be caused by a broad range of bacterial, fungal, parasitic, and viral agents. Infectious myositis is overall uncommon given the relative resistance of the musculature to infection. For example, inciting events, including trauma, surgery, or the presence of foreign bodies or devitalized tissue, are often present in cases of bacterial myositis. Bacterial causes are categorized by clinical presentation, anatomic location, and causative organisms into the categories of pyo...

  10. Childhood acute lower respiratory tract infections in Northern Nigeria

    African Journals Online (AJOL)

    2015-03-02

    Mar 2, 2015 ... cause of childhood morbidity and deaths worldwide1, 2. Of the estimated 7.6 ... years of age with community-acquired pneumonia. (CAP) would require ..... mon respiratory pathogens, such as Haemophilus influ- enzae and ...

  11. Myositis-specific and myositis-associated autoantibodies in Indian patients with inflammatory myositis.

    Science.gov (United States)

    Srivastava, Puja; Dwivedi, Sanjay; Misra, Ramnath

    2016-07-01

    We aimed to study the prevalence and clinical associations of myositis-specific autoantibodies (MSAs) and myositis-associated autoantibodies (MAAs) in a large cohort of Indian patients with idiopathic inflammatory myositis (IIM). Clinical details and serum samples were collected from patients with IIM (satisfying Bohan and Peter Criteria, 1975) and CTD-associated myositis. Sera were analysed for antibodies against SRP, Mi2, Jo1, PL7, PL12, EJ, OJ, Ro52, Ku, Pm-Scl 75 and PM-Scl 100, using immunoblot assay. The cohort comprised 124 patients with IIM (M:F = 1:3.6). Fifty-five of them had dermatomyositis (DM), 22 had juvenile dermatomyositis (JDM), 25 had polymyositis (PM) and 22 had connective tissue disease-associated myositis (CTD myositis). Mean disease duration was 10.9 months. ANA was positive in 84 (68.9 %), and MSAs in 61 (49.2 %) patients. Among MSAs, autoantibodies to Mi2, synthetase (Jo1, PL7, PL12, EJ) and SRP were present in 26 (20.9 %), 29 (23.4 %) and 6 (4.8 %) patients, respectively. Prevalence of MAAs was as follows: antibodies to Ro52 in 45 (36.3 %), Ku and PM-Scl 75 in 13 (10.5 %) and PM-Scl 100 in 5 (4 %) patients. Anti-Mi2 antibodies were positively associated with DM (21/55, 38.2 %; p < 0.0001) and pharyngeal weakness (13/34, 38.2 %; p = 0.004) and negatively associated with ILD (0/28; p = 0.001). ILD and mechanics' hands were significantly more in patients with anti-synthetase antibodies (16/28, 57 % and 14/22, 63.6 %; p < 0.0001). Four of six patients with anti-SRP antibody showed poor response to multiple drugs. Higher prevalence of anti-Mi2 is probably related to higher proportion of patients with DM. Absence of ILD in patients with anti-Mi2 antibody suggests that it may protect against ILD. In Indian population also, anti-synthetase antibodies are associated with ILD, and anti-SRP antibodies with poor response to treatment.

  12. Proliferative myositis: a case report

    Energy Technology Data Exchange (ETDEWEB)

    Kim, Young Sook; Jeon, Ho Jong [Chosun University College of Medicine, Gwangju (Korea, Republic of)

    2002-09-01

    We report a case of proliferative myositis arising in the pectoralis major muscle of a 59-year-old man who presented with palpable mass. The initial clinical impression was a malignant tumor. Ultrasonography revealed the lesion as a spindle-shaped hypoechoic mass, and MR imaging of the left pectoralis major muscle showed hypointensity at T1-weighted imaging, hyperintensity at T2-weighted imaging, and strong enhancement at contrast-enhanced T1-weighted imaging.

  13. Proliferative myositis: a case report

    International Nuclear Information System (INIS)

    Kim, Young Sook; Jeon, Ho Jong

    2002-01-01

    We report a case of proliferative myositis arising in the pectoralis major muscle of a 59-year-old man who presented with palpable mass. The initial clinical impression was a malignant tumor. Ultrasonography revealed the lesion as a spindle-shaped hypoechoic mass, and MR imaging of the left pectoralis major muscle showed hypointensity at T1-weighted imaging, hyperintensity at T2-weighted imaging, and strong enhancement at contrast-enhanced T1-weighted imaging

  14. Brain hypothermia therapy for childhood acute encephalopathy based on clinical evidence

    OpenAIRE

    IMATAKA, GEORGE; ARISAKA, OSAMU

    2015-01-01

    Although previous studies have reported on the effectiveness of brain hypothermia therapy in childhood acute encephalopathy, additional studies in this field are necessary. In this review, we discussed brain hypothermia therapy methods for two clinical conditions for which sufficient evidences are currently available in the literature. The first condition is known as hypoxic-ischemic encephalopathy and occurs in newborns and the second condition is acute encephalopathy which occurs in adults ...

  15. Eosinophilic myositis: an updated review.

    Science.gov (United States)

    Selva-O'Callaghan, A; Trallero-Araguás, E; Grau, J M

    2014-01-01

    Eosinophilia-associated myopathies are clinically and pathologically heterogeneous conditions characterized by the presence of peripheral and/or muscle eosinophilia. There are at least three distinct subtypes: focal eosinophilic myositis, eosinophilic polymyositis, and eosinophilic perimyositis. Infiltrating eosinophils are not always identified in conventional muscle histologic examination, but the eosinophil major basic protein, whose extracellular diffusion is considered a hallmark of eosinophilic cytotoxicity, is usually detected by immunostaining in muscle biopsy. Whereas focal eosinophilic myositis seems to be a benign and isolated condition, and perimyositis is usually related with the inflammatory infiltrate due to fasciitis, eosinophilic polymyositis can be associated with muscular dystrophy or be a feature of multiorgan hypereosinophilic syndrome. Muscle biopsy remains the cornerstone for the diagnosis. Parasitic infections, connective tissue disorders, hematologic and non-hematologic malignancies, drugs, and toxic substances are the main etiologic agents of eosinophilia-associated myopathy. However, in some cases, no known etiologic factor is identified, and these are considered idiopathic. Glucocorticoids are the mainstay therapy in idiopathic forms. Imatinib and mepolizumab, a humanized anti-interleukin 5 monoclonal antibody, may be useful in patients with eosinophilic myositis as part of a hypereosinophilic syndrome. Copyright © 2014 Elsevier B.V. All rights reserved.

  16. Multimodality imaging of Candida tropicalis myositis

    Energy Technology Data Exchange (ETDEWEB)

    Schwartz, Daniel M. [Children' s Memorial Hospital, Department of Medical Imaging, 2300 Children' s Plaza, Box 9, Chicago, IL (United States); Morgan, Elaine R. [Children' s Memorial Hospital, Department of Hematology and Oncology, Chicago, IL (United States)

    2008-04-15

    Fungal myositis is a rare entity that has been described in immunocompromised patients. We present a boy with biopsy proven fungal myositis who was examined with multiple imaging modalities. MR imaging proved to be very effective for diagnostic purposes, while US imaging was able to provide guidance for biopsy. (orig.)

  17. Multimodality imaging of Candida tropicalis myositis

    International Nuclear Information System (INIS)

    Schwartz, Daniel M.; Morgan, Elaine R.

    2008-01-01

    Fungal myositis is a rare entity that has been described in immunocompromised patients. We present a boy with biopsy proven fungal myositis who was examined with multiple imaging modalities. MR imaging proved to be very effective for diagnostic purposes, while US imaging was able to provide guidance for biopsy. (orig.)

  18. Cervical myositis ossificans traumatica: a rare location

    International Nuclear Information System (INIS)

    Baysal, T.; Sarac, K.; Kutlu, R.; Baysal, O.; Ersoy, Y.; Elmali, N.

    1999-01-01

    An unusual case of myositis ossificans traumatica lesion located in the paraspinal region is reported. Despite the contiguity of the lesion with the cervical vertebrae and ominous appearance of the biopsy material, the history of antecedent trauma and computed tomography findings allowed preoperative accurate diagnosis. To our knowledge, myositis ossificans traumatica located in the cervical paraspinal region is very rare. (orig.)

  19. Non-infectious chemotherapy-associated acute toxicities during childhood acute lymphoblastic leukemia therapy [version 1; referees: 3 approved

    Directory of Open Access Journals (Sweden)

    Kjeld Schmiegelow

    2017-04-01

    Full Text Available During chemotherapy for childhood acute lymphoblastic leukemia, all organs can be affected by severe acute side effects, the most common being opportunistic infections, mucositis, central or peripheral neuropathy (or both, bone toxicities (including osteonecrosis, thromboembolism, sinusoidal obstruction syndrome, endocrinopathies (especially steroid-induced adrenal insufficiency and hyperglycemia, high-dose methotrexate-induced nephrotoxicity, asparaginase-associated hypersensitivity, pancreatitis, and hyperlipidemia. Few of the non-infectious acute toxicities are associated with clinically useful risk factors, and across study groups there has been wide diversity in toxicity definitions, capture strategies, and reporting, thus hampering meaningful comparisons of toxicity incidences for different leukemia protocols. Since treatment of acute lymphoblastic leukemia now yields 5-year overall survival rates above 90%, there is a need for strategies for assessing the burden of toxicities in the overall evaluation of anti-leukemic therapy programs.

  20. Challenges in implementing individualized medicine illustrated by antimetabolite therapy of childhood acute lymphoblastic leukemia

    DEFF Research Database (Denmark)

    Nersting, Jacob; Borst, Louise; Schmiegelow, Kjeld

    2011-01-01

    illustrated by studies involving childhood acute lymphoblastic leukemia (ALL), where each patient may receive up to 13 different anticancer agents over a period of 2-3 years. The challenges include i) addressing important, but low-frequency outcomes, ii) difficulties in interpreting the impact of single drug...

  1. Efficacy and Toxicity of Asparaginases During Prospective Drug Monitoring in Patients With Childhood Acute Lymphoblastic Leukemia

    NARCIS (Netherlands)

    W.H. Tong (Wing)

    2014-01-01

    markdownabstract__Abstract__ Intensified and effective asparaginase therapy is very important in modern treatment of childhood acute lymphoblastic leukemia. The use of native E.coli asparaginase in induction leads to a high rate of hypersensitivity reactions to PEGasparaginase in the

  2. Mutational analysis of Bax and Bcl-2 in childhood acute lymphoblastic leukaemia

    NARCIS (Netherlands)

    Salomons, G. S.; Buitenhuis, C. K.; Martínez Muñoz, C.; Verwijs-Jassen, M.; Behrendt, H.; Zsiros, J.; Smets, L. A.

    1998-01-01

    In childhood acute lymphoblastic leukaemia there are large interpatient variations in levels of the apoptosis-regulating proteins Bax and Bcl-2, but the molecular basis for this variation is unknown. Point-mutations in bax have been reported in cell lines derived from haematological malignancies.

  3. Mutations in LPIN1 cause recurrent acute myoglobinuria in childhood

    NARCIS (Netherlands)

    Zeharia, Avraham; Shaag, Avraham; Houtkooper, Riekelt H.; Hindi, Tareq; de Lonlay, Pascale; Erez, Gilli; Hubert, Laurence; Saada, Ann; de Keyzer, Yves; Eshel, Gideon; Vaz, Frédéric M.; Pines, Ophry; Elpeleg, Orly

    2008-01-01

    Recurrent episodes of life-threatening myoglobinuria in childhood are caused by inborn errors of glycogenolysis, mitochondrial fatty acid beta-oxidation, and oxidative phosphorylation. Nonetheless, approximately half of the patients do not suffer from a defect in any of these pathways. Using

  4. Magnetic resonance imaging of infectious myositis

    Energy Technology Data Exchange (ETDEWEB)

    Yun, Ji Young; Kim, Jee Young; Kim, Sang Heum; Jung, Youn Ju; Cha, Eun Suk; Park, Joung Mi; Park, Young Ha [The Catholic Univ., College of Medicine, Suwon (Korea, Republic of)

    1998-09-01

    To describe the findings of magnetic resonance imaging in infectious myositis and to determine their value for differentiation between ruberculous and bacterial myositis. Magnetic resonance images of ten proven cases of infectious myositis (five tuberculous and five bacterial) were retrospectively reviewed in the light of clinical and laboratory findings. On the basis of magnetic resonance images, signal intensity of the mass, the presence or absence of an abscess, signal intensity of the peripheral wall, patterns of contrast enhancement, and associated findings were evaluated. Compared with those of bacterial myositis, the symptoms of tuberculous myositis lasted longer but there were no difinite local inflammatory signs. In three of five cases of bacterial myositis there were specific medical records;trauma in two cases and systemic lupus erythematosus in one. All tuberculous myositis cases involved a single muscle, but bacterial myositis affected multipe muscles in three cases(60%). All but one case showed a mass in the involved muscles. In one bacterial case, there was diffuse swelling in the involved muscle. On T1-weighted images, eight infectious cases showed low signal intensity;two, of the bactrerial type, showed subtle increased signal intensity. all cases demonstrated high signal intensity on t2-weighted images. The signal intensity of peripheral wall was slightly increased on T1-weighted images, but low on T2-weighted. In four cases there was associated cellulitis, and in one case each, adjacent joint effusion and deep vein thrombosis were seen. After gadolinium infusion, peripheral rim enhancement was noted in nine cases and heterogeneous enhancement in one. After magnetic resonance imaging of infectious myositis, the characteristic finding was an abscessed lesion, with the peripheral wall showing high signal intensity on T1-weighted images and low signal intensity on T2 weighted. Although we found it difficult to differentiate bacterial from tuberculous

  5. Magnetic resonance imaging of infectious myositis

    International Nuclear Information System (INIS)

    Yun, Ji Young; Kim, Jee Young; Kim, Sang Heum; Jung, Youn Ju; Cha, Eun Suk; Park, Joung Mi; Park, Young Ha

    1998-01-01

    To describe the findings of magnetic resonance imaging in infectious myositis and to determine their value for differentiation between ruberculous and bacterial myositis. Magnetic resonance images of ten proven cases of infectious myositis (five tuberculous and five bacterial) were retrospectively reviewed in the light of clinical and laboratory findings. On the basis of magnetic resonance images, signal intensity of the mass, the presence or absence of an abscess, signal intensity of the peripheral wall, patterns of contrast enhancement, and associated findings were evaluated. Compared with those of bacterial myositis, the symptoms of tuberculous myositis lasted longer but there were no difinite local inflammatory signs. In three of five cases of bacterial myositis there were specific medical records;trauma in two cases and systemic lupus erythematosus in one. All tuberculous myositis cases involved a single muscle, but bacterial myositis affected multipe muscles in three cases(60%). All but one case showed a mass in the involved muscles. In one bacterial case, there was diffuse swelling in the involved muscle. On T1-weighted images, eight infectious cases showed low signal intensity;two, of the bactrerial type, showed subtle increased signal intensity. all cases demonstrated high signal intensity on t2-weighted images. The signal intensity of peripheral wall was slightly increased on T1-weighted images, but low on T2-weighted. In four cases there was associated cellulitis, and in one case each, adjacent joint effusion and deep vein thrombosis were seen. After gadolinium infusion, peripheral rim enhancement was noted in nine cases and heterogeneous enhancement in one. After magnetic resonance imaging of infectious myositis, the characteristic finding was an abscessed lesion, with the peripheral wall showing high signal intensity on T1-weighted images and low signal intensity on T2 weighted. Although we found it difficult to differentiate bacterial from tuberculous

  6. Quantitative assessments of indoor air pollution and the risk of childhood acute leukemia in Shanghai

    International Nuclear Information System (INIS)

    Gao, Yu; Zhang, Yan; Kamijima, Michihiro; Sakai, Kiyoshi; Khalequzzaman, Md; Nakajima, Tamie; Shi, Rong; Wang, Xiaojin; Chen, Didi; Ji, Xiaofan; Han, Kaiyi; Tian, Ying

    2014-01-01

    We investigated the association between indoor air pollutants and childhood acute leukemia (AL). A total of 105 newly diagnosed cases and 105 1:1 gender-, age-, and hospital-matched controls were included. Measurements of indoor pollutants (including nitrogen dioxide (NO 2 ) and 17 types of volatile organic compounds (VOCs)) were taken with diffusive samplers for 64 pairs of cases and controls. Higher concentrations of NO 2 and almost half of VOCs were observed in the cases than in the controls and were associated with the increased risk of childhood AL. The use of synthetic materials for wall decoration and furniture in bedroom was related to the risk of childhood AL. Renovating the house in the last 5 years, changing furniture in the last 5 years, closing the doors and windows overnight in the winter and/or summer, paternal smoking history and outdoor pollutants affected VOC concentrations. Our results support the association between childhood AL and indoor air pollution. - Highlights: • We firstly assessed the effects of indoor air pollution on childhood AL in China. • Indoor air pollutants were assessed by questionnaire and quantitative measurements. • NO 2 and 17 types of VOCs were measured in bedrooms of both cases and controls. • Higher concentrations of indoor air pollutants increased the risk of childhood AL. • Indoor behavioral factors and outdoor pollution might affect indoor air pollution. - Higher concentrations of indoor air pollutants were related to an elevated risk of childhood AL

  7. Myositis ossificans: radiologic evaluation of two cases with diagnostic computed tomograms

    International Nuclear Information System (INIS)

    Zeanah, W.R.; Hudson, T.M.

    1982-01-01

    Although most physicians associated myositis ossificans with recent, acute trauma, only 40%-60% of patients give such a history. The appearance of a soft tissue mass without a clear history of trauma may suggest a diagnosis of sarcoma, especially because results of a biopsy of the central portion of an area of myositis ossificans may yield immature, undifferentiated tissue resembling a sarcoma. Pain and rapid growth of a mass are more usual in myositis ossificans than in sarcomas, and careful inquiry may reveal stretching injury or chronic trauma associated with normal, vigorous, physical activities. Recognizing the characteristic histologic zoning phenomenon (immature tissue centrally surrounded by more mature tissue and a peripheral shell of benign bone) during the biopsy procedure permits the correct diagnosis of myositis ossificans. Plain radiographs or conventional tomograms may reflect this histologic zoning by demonstrating the typical, mature, outer shell of bone. Although additional radiographic studies are not usually necessary, they may be obtained when the mass is suspected to be a sarcoma. In two patients computed tomographic scans clearly demonstrated well-defined, peripheral shells of mature bone, diagnostic of myositis ossificans

  8. Subacute sarcoid myositis with ocular muscle involvement; a case report and review of the literature.

    Science.gov (United States)

    Hayashi, Y; Ishii, Yoshiki; Nagasawa, J; Arai, S; Okada, H; Ohmi, F; Umetsu, T; Machida, Y; Kurasawa, K; Takemasa, A; Suzuki, S; Senoh, T; Sada, T; Hirata, K

    2016-10-07

    Sarcoidosis is a chronic granulomatous disease that can affect multiple organs. The lungs, eyes, and skin are known to be highly affected organs in sarcoidosis. There have been reports based on random muscle biopsy that 32-80% of systemic sarcoidosis comprises noncaseating granulomas; however, muscle involvement in sarcoidosis is generally asymptomatic and has an unknown frequency. We describe a case of acute to subacute sarcoid myositis of the skeletal and extraocular muscles. Typical ophthalmic involvement (manifested by infiltration of the ocular adnexa, intraocular inflammation, or infiltration of the retrobulbar visual pathways) and extraocular sarcoid myositis (as with the present case) is infrequently reported. It is important to keep in mind the rare yet perhaps underestimated entity of sarcoid myositis, and to utilize muscle biopsy and imaging tests for appropriate diagnosis and management of patients with sarcoidosis.

  9. Corticosteroids in Myositis and Scleroderma.

    Science.gov (United States)

    Postolova, Anna; Chen, Jennifer K; Chung, Lorinda

    2016-02-01

    Idiopathic inflammatory myopathies (IIMs) involve inflammation of the muscles and are classified by the patterns of presentation and immunohistopathologic features on skin and muscle biopsy into 4 categories: dermatomyositis, polymyositis, inclusion body myositis, and immune-mediated necrotizing myopathy. Systemic corticosteroid (CS) treatment is the standard of care for IIM with muscle and organ involvement. The extracutaneous features of systemic sclerosis are frequently treated with CS; however, high doses have been associated with scleroderma renal crisis in high-risk patients. Although CS can be effective first-line agents, their significant side effect profile encourages concomitant treatment with other immunosuppressive medications to enable timely tapering. Published by Elsevier Inc.

  10. Ploidy and clinical characteristics of childhood acute myeloid leukemia

    DEFF Research Database (Denmark)

    Sandahl, Julie Damgaard; Kjeldsen, Eigil; Abrahamsson, Jonas

    2014-01-01

    We report the first large series (n = 596) of pediatric acute myeloid leukemia (AML) focusing on modal numbers (MN) from the population-based NOPHO-AML trials. Abnormal karyotypes were present in 452 cases (76%) and numerical aberrations were present in 40% (n = 237) of all pediatric AML. Among...... with early onset (median age 2 years), female sex (57%), and a dominance of acute megakaryoblastic leukemia (AMKL) (29%). Hypodiploidy constituted 8% of all AML and was associated with older age (median age 9 years), male predominance (60%), FAB M2 (56%), and t(8;21)(q22;q22) (56%) with loss of sex...

  11. Spontaneous Rapid Resolution of Acute Epidural Hematoma in Childhood

    Directory of Open Access Journals (Sweden)

    Ismail Gülşen

    2013-01-01

    Full Text Available Acute epidural hematoma is a critical emergency all around the world, and its aggressive diagnosis and treatment are of vital importance. Emergent surgical evacuation of the hematoma is known as standard management; however, conservative procedures are also used for small ones. Spontaneous rapid resolution of these hematomas has also been reported in eight pediatric cases. Various theories have been proposed to explain the underlying pathophysiology of this resolution. Herein, we are reporting a new pediatric case with spontaneously resolving acute epidural hematoma 12 hours after admission to the emergency room.

  12. Acute renal failure in infancy and childhood | Wiggelinkhuizen ...

    African Journals Online (AJOL)

    The clinical features and management of 132 infants and children with severe acute renal failure are reviewed. S. Afr. Med. J., 48, 2129 (1974). Full Text: EMAIL FREE FULL TEXT EMAIL FREE FULL TEXT · DOWNLOAD FULL TEXT DOWNLOAD FULL TEXT · AJOL African Journals Online. HOW TO USE AJOL.

  13. Gene Dose Effects of GSTM1, GSTT1 and GSTP1 Polymorphisms on Outcome in Childhood Acute Lymphoblastic Leukemia

    DEFF Research Database (Denmark)

    Borst, Louise; Buchard, Anders; Rosthoj, Susanne

    2012-01-01

    Children with acute lymphoblastic leukemia (ALL) react very differently to chemotherapy. One explanation for this is inherited genetic variation. The glutathione S-transferase (GST) enzymes inactivate a number of chemotherapeutic drugs administered in childhood ALL therapy. Two multiplexing methods...

  14. Genome‐wide analysis of cytogenetic aberrations in ETV6/RUNX1‐positive childhood acute lymphoblastic leukaemia

    DEFF Research Database (Denmark)

    Borst, Louise; Wesolowska, Agata; Joshi, Tejal

    2012-01-01

    The chromosomal translocation t(12;21) resulting in the ETV6/RUNX1 fusion gene is the most frequent structural cytogenetic abnormality among patients with childhood acute lymphoblastic leukaemia (ALL). We investigated 62 ETV6/RUNX1‐positive childhood ALL patients by single nucleotide polymorphism...... childhood ALL, which may be important for understanding poor responses among this otherwise highly curable subset of ALL and lead to novel targeted treatment strategies....

  15. Cure rates of childhood acute lymphoblastic leukemia in Lithuania and the benefit of joining international treatment protocol

    DEFF Research Database (Denmark)

    Vaitkevičienė, Goda; Matuzevičienė, Rėda; Stoškus, Mindaugas

    2014-01-01

    BACKGROUND: Childhood acute lymphoblastic leukemia (ALL) represents the largest group of pediatric malignancies with long-term survival rates of more than 80% achieved in developed countries. Epidemiological data and survival rates of childhood ALL in Lithuania were lacking. Therefore, the aim of...

  16. Cost-analysis of treatment of childhood acute lymphoblastic leukemia with asparaginase preparations: The impact of expensive chemotherapy

    NARCIS (Netherlands)

    W.H. Tong (Wing); I.M. van der Sluis (Inge); C.J.M. Alleman (Cathelijne); R.R. van Litsenburg (Raphaële ); G.J. Kaspers (Gertjan); R. Pieters (Rob); C.A. Uyl-de Groot (Carin)

    2013-01-01

    markdownabstract__Abstract__ Asparaginase is an expensive drug, but important in childhood acute lymphoblastic leukemia. In order to compare costs of PEGasparaginase, Erwinia asparaginase and native E. coli asparaginase, we performed a cost-analysis in the Dutch Childhood Oncology Group ALL-10

  17. The Eleventh International Childhood Acute Lymphoblastic Leukemia Workshop Report: Ponte di Legno, Italy, 6-7 May 2009

    DEFF Research Database (Denmark)

    Biondi, A; Baruchel, A; Hunger, S

    2009-01-01

    An international childhood acute lymphoblastic leukemia (ALL)working group was formed during the 27th annual meeting of the International Society of Pediatric Oncology in 1995. Since then, 10 workshops have been held to address many issues that help advance treatment outcome of childhood ALL but ...

  18. Treatment of relapsed or refractory acute leukemia in childhood with bisantrene combined with high dose aracytine.

    Science.gov (United States)

    Leblanc, T; Deméocq, F; Leverger, G; Baruchel, A; Lemerle, S; Vannier, J P; Nelken, B; Guillot, T; Schaison, G

    1994-01-01

    Bisantrene is an anthracene derivative which has demonstrated activity in acute myeloblastic leukemia (AML) and in lymphoma. The present study was designed to assess the reinduction rate and toxicity of bisantrene (250 mg/m2/d x 5) associated with aracytine (100 mg/m2 twice a day x 5) in refractory and relapsed acute childhood leukemia. Patients who relapsed after bone marrow transplantation were eligible. Twenty-six children were included. Diagnoses were as follows: 13 AML, 9 acute lymphoblastic leukemia (ALL), and 4 undifferentiated leukemia (AUL). All patients had been very highly pretreated, especially with anthracyclines, and most of them were of poor prognosis. The overall response rate was 46% with a 95% confidence interval ranging from 27-65%. According to diagnosis, complete remission (CR) rates are: AML: 5/13, ALL: 5/9, and AUL: 2/4. Four children died, three from infection and one from acute lysis syndrome. The major toxicity was infection with grade 3 and 4 episodes occurring in 42% of patients. No significant cardiac toxicity was noted. Hepatic and renal toxicity was noted. Hepatic and renal toxicity were limited and transient. Bisantrene in association with aracytine is effective in both AML and ALL of childhood. Bisantrene should be evaluated with a five-day schedule in other pediatric malignancies. In children with acute leukemia previously treated with high dose aracytine, new combination regimen is warranted.

  19. Clinical features and early treatment response of central nervous system involvement in childhood acute lymphoblastic leukemia

    DEFF Research Database (Denmark)

    Levinsen, Mette; Taskinen, Mervi; Abrahamsson, Jonas

    2014-01-01

    BACKGROUND: Central nervous system (CNS) involvement in childhood acute lymphoblastic leukemia (ALL) remains a therapeutic challenge. PROCEDURE: To explore leukemia characteristics of patients with CNS involvement at ALL diagnosis, we analyzed clinical features and early treatment response of 744...... leukemia and patients without such characteristics (0.50 vs. 0.61; P = 0.2). CONCLUSION: CNS involvement at diagnosis is associated with adverse prognostic features but does not indicate a less chemosensitive leukemia....

  20. Acute necrotising encephalopathy of childhood after exanthema subitum outside Japan or Taiwan

    Energy Technology Data Exchange (ETDEWEB)

    Porto, L.; Lanferman, H.; Moeller-Hartmann, W.; Jacobi, G.; Zanella, F. [Inst. fuer Neuroradiologie, Klinikum der Johann Wolfgang Goethe-Univ., Frankfurt am Main (Germany)

    1999-10-01

    Acute necrotising encephalopathy of childhood (ANE) is an uncommon disease which predominantly affects infants and young children living in Japan and Taiwan. A multifocal encephalopathy with symmetrical lesions in the thalamus, tegmentum of the brain stem, cerebral periventricular white matter and cerebellar medulla is characteristic. We present the imaging features in a 4-year-old Japanese boy who had been living in Germany for 2{sup 1}/{sub 2} years before presentation. (orig.)

  1. Acute necrotising encephalopathy of childhood after exanthema subitum outside Japan or Taiwan

    International Nuclear Information System (INIS)

    Porto, L.; Lanferman, H.; Moeller-Hartmann, W.; Jacobi, G.; Zanella, F.

    1999-01-01

    Acute necrotising encephalopathy of childhood (ANE) is an uncommon disease which predominantly affects infants and young children living in Japan and Taiwan. A multifocal encephalopathy with symmetrical lesions in the thalamus, tegmentum of the brain stem, cerebral periventricular white matter and cerebellar medulla is characteristic. We present the imaging features in a 4-year-old Japanese boy who had been living in Germany for 2 1 / 2 years before presentation. (orig.)

  2. Cervical myositis ossificans traumatica: a rare location

    Energy Technology Data Exchange (ETDEWEB)

    Baysal, T.; Sarac, K.; Kutlu, R. [Dept. of Radiology, Inonu University, Malatya (Turkey); Baysal, O.; Ersoy, Y. [Dept. of Physical Therapy and Rehabilitation, Inonu Univ., Malatya (Turkey); Elmali, N. [Dept. of Orthopedics and Traumatology, Inonu Univ., Malatya (Turkey)

    1999-05-01

    An unusual case of myositis ossificans traumatica lesion located in the paraspinal region is reported. Despite the contiguity of the lesion with the cervical vertebrae and ominous appearance of the biopsy material, the history of antecedent trauma and computed tomography findings allowed preoperative accurate diagnosis. To our knowledge, myositis ossificans traumatica located in the cervical paraspinal region is very rare. (orig.) With 4 figs., 16 refs.

  3. Virus detection and cytokine profile in relation to age among acute exacerbations of childhood asthma.

    Science.gov (United States)

    Kato, Masahiko; Suzuki, Kazuo; Yamada, Yoshiyuki; Maruyama, Kenichi; Hayashi, Yasuhide; Mochizuki, Hiroyuki

    2015-09-01

    Little information is available regarding eosinophil activation and cytokine profiles in relation to age in virus-induced bronchial asthma. We therefore explored the association between age, respiratory viruses, serum eosinophil cationic protein (ECP), and cytokines/chemokines in acute exacerbations of childhood asthma. We investigated viruses in nasal secretions from 88 patients with acute exacerbation of childhood asthma by using antigen detection kits and/or RT-PCR, followed by direct DNA sequencing analysis. We also measured peripheral eosinophil counts, and the serum levels of ECP and 27 types of cytokines/chemokines in 71 virus-induced acute asthma cases and 13 controls. Viruses were detected in 71(80.7%) of the 88 samples. The three major viruses detected were rhinoviruses, RS viruses, and enteroviruses; enteroviruses were found to be dominant in patients aged ≥3 years. There was no change in the levels of rhinoviruses and RS viruses between the two age groups, defined as children aged asthma cases compared with controls. Serum ECP values were significantly higher in patients with virus-induced asthma at age ≥3 years compared with those aged asthma in patients childhood asthma. Copyright © 2015 The Authors. Production and hosting by Elsevier B.V. All rights reserved.

  4. Antibodies in juvenile-onset myositis.

    Science.gov (United States)

    Tansley, Sarah L

    2016-11-01

    Juvenile-onset myositis is a highly heterogeneous disease. Myositis-specific and associated autoantibodies provide a potential means of subdividing patients into clinically homogenous subgroups. Given the increasing availability of autoantibody testing, this review explores the phenotypes associated with different autoantibodies in juvenile-onset myositis and the potential clinical utility of autoantibody testing. Autoantibodies can be identified in 60-70% of children with myositis and the recent discovery of novel myositis-associated autoantibodies in adult patients suggests this may increase in the near future. Detailed phenotype descriptions are now known for several autoantibodies commonly identified in juvenile-onset disease. Whilst there is insufficient evidence to recommend a differential treatment approach based on autoantibody status, it is becoming increasingly clear that some autoantibody subgroups are often treatment resistant and may benefit from a more aggressive approach. The validation of nonspecialised methods for myositis-specific autoantibody detection should lead to more widely available testing. In juvenile-onset disease, this will provide detailed prognostic information and in the future may also influence approach.

  5. Myositis-specific autoantibodies: an important tool to support diagnosis of myositis.

    Science.gov (United States)

    Betteridge, Z; McHugh, N

    2016-07-01

    The idiopathic inflammatory myopathies are characterized by muscle weakness, skin disease and internal organ involvement. Autoimmunity is known to have a role in myositis pathogenesis, and myositis-specific autoantibodies, targeting important intracellular proteins, are regarded as key biomarkers aiding in the diagnosis of patients. In recent years, a number of novel myositis autoantibodies including anti-TIF1, anti-NXP2, anti-MDA5, anti-SAE, anti-HMGCR and anti-cN1A have been identified in both adult and juvenile patients. These autoantibodies correlate with distinct clinical manifestations and importantly are found in inclusion body, statin-induced, clinically amyopathic and juvenile groups of myositis patients, previously believed to be mainly autoantibody negative. In this review, we will describe the main myositis-specific and myositis-associated autoantibodies and their frequencies and clinical associations across different ages and ethnic groups. We will also discuss preliminary studies investigating correlations between specific myositis autoantibody titres and clinical markers of disease course, collectively demonstrating the utility of myositis autoantibodies as both diagnostic and prognostic markers of disease. © 2015 The Association for the Publication of the Journal of Internal Medicine.

  6. Eosinophilic Fasciitis Associated with Myositis

    Directory of Open Access Journals (Sweden)

    Yuko Adachi

    2015-04-01

    Full Text Available Eosinophilic fasciitis is clinically characterized by symmetrical scleroderma-like indurations of the skin with pain. The histological features are fascial inflammation with lymphocytes and eosinophils as well as thickened and fibrotic fascia. Lymphocytic infiltration and degeneration of the underlying muscle are rarely observed. We report a 69-year-old Japanese woman who presented with multiple areas of glossy induration and painful peau d'orange-like lesions on the chest and four extremities. T2-weighted magnetic resonance imaging showed significant hyperintense thickening of the fascia of the lower extremities. Histopathological examination of a biopsy specimen from the induration showed marked fibrinoid degeneration of the fascia and the neighboring muscle with mixed cellular infiltration of lymphocytes and eosinophils. The predominant CD8+ lymphocytic infiltrates were observed by immunohistological study. A diagnosis of eosinophilic fasciitis with myositis was made. Oral administration of prednisolone and discontinuation of exercise significantly improved the lesions and pain.

  7. [Focal myositis: An unknown disease].

    Science.gov (United States)

    Gallay, L; Streichenberger, N; Benveniste, O; Allenbach, Y

    2017-10-01

    Focal myositis are inflammatory muscle diseases of unknown origin. At the opposite from the other idiopathic inflammatory myopathies, they are restricted to a single muscle or to a muscle group. They are not associated with extramuscular manifestations, and they have a good prognosis without any treatment. They are characterized by a localized swelling affecting mostly lower limbs. The pseudo-tumor can be painful, but is not associated with a muscle weakness. Creatine kinase level is normal. Muscle MRI shows an inflammation restricted to a muscle or a muscle group. Muscle biopsy and pathological analysis remain necessary for the diagnosis, showing inflammatory infiltrates composed by macrophages and lymphocytes without any specific distribution within the muscle. Focal overexpression of HLA-1 by the muscle fibers is frequently observed. The muscle biopsy permits to rule out differential diagnosis such a malignancy (sarcoma). Spontaneous remission occurs within weeks or months after the first symptoms, relapse is unusual. Copyright © 2017. Published by Elsevier SAS.

  8. Corticosteroids in Myositis and Scleroderma

    Science.gov (United States)

    Postolova, Anna; Chen, Jennifer K; Chung, Lorinda

    2017-01-01

    Synopsis Idiopathic inflammatory myopathies (IIM) involve inflammation of the muscles and are classified based on the patterns of presentation and immunohistopathologic features on skin and muscle biopsy into four categories: dermatomyositis, polymyositis, inclusion body myositis, and immune mediated necrotizing myopathy. The term “scleroderma” refers to fibrosis of the skin. Localized scleroderma (morphea) is skin-limited, while systemic sclerosis (SSc) is associated with vascular and internal organ involvement. Although there is a paucity of randomized clinical trials, treatment with systemic corticosteroids (CS) is the standard of care for IIM with muscle and organ involvement. The extra-cutaneous features of systemic sclerosis are frequently treated with CS, however high doses have been associated with scleroderma renal crisis in high-risk patients. CS monotherapy is neither recommended for the cutaneous manifestations of dermatomyositis nor scleroderma. While CS can be effective first line agents, their significant side effect profile encourages concomitant treatment with other immunosuppressive medications to enable timely tapering. PMID:26611554

  9. Cranial radiation in childhood acute lymphocytic leukemia. Neuropsychologic sequelae

    International Nuclear Information System (INIS)

    Whitt, J.K.; Wells, R.J.; Lauria, M.M.; Wilhelm, C.L.; McMillan, C.W.

    1984-01-01

    A battery of neuropsychologic tests was administered ''blindly'' to 18 children with acute lymphocytic leukemia (ALL) who had been randomly assigned to treatment regimens with or without cranial radiation. These children were all in complete continuous remission for more than 3 1/2 years and were no longer receiving therapy. The results indicated no substantial differences between groups as a function of radiation therapy. However, decreased neuropsychologic performance was found when the entire sample was compared with population norms. These data do not support the hypothesis that cranial radiation therapy is responsible for the neuropsychologic sequelae seen in these survivors of ALL. Post hoc multiple regression analysis indicated that parental education levels accounted for more of the neuropsychologic variability seen in these children than other factors such as age at diagnosis, type of therapy, or sex of child

  10. Decreased PARP and procaspase-2 protein levels are associated with cellular drug resistance in childhood acute lymphoblastic leukemia

    NARCIS (Netherlands)

    A. Holleman (Amy); M.L. den Boer (Monique); K.M. Kazemier (Karin); H.B. Beverloo (Berna); A.R.M. von Bergh (Anne); G.E. Janka-Schaub (Gritta); R. Pieters (Rob)

    2005-01-01

    textabstractDrug resistance in childhood acute lymphoblastic leukemia (ALL) and acute myeloid leukemia (AML) is associated with impaired ability to induce apoptosis. To elucidate causes of apoptotic defects, we studied the protein expression of Apaf-1, procaspases-2, -3, -6, -7,

  11. Integration of childhood TB into guidelines for the management of acute malnutrition in high burden countries.

    Science.gov (United States)

    Patel, L N; Detjen, A K

    2017-06-21

    Introduction: Childhood tuberculosis (TB) and undernutrition are major global public health challenges. In 2015, although an estimated 1 million children aged malnutrition from 17 high TB burden countries were reviewed to gather information on TB symptom screening, exposure history, and treatment. Results: Seven (41%) countries recommend routine TB screening among children with acute malnutrition, and six (35%) recommend obtaining a TB exposure history. Conclusion: TB screening is not consistently included in guidelines for acute malnutrition in high TB burden countries. Routine TB risk assessment, especially history of TB exposure, among acutely malnourished children, combined with improved linkages with TB services, would help increase TB case finding and could impact outcomes. Operational research on how best to integrate services at different levels of the health care system is needed.

  12. The clinical significance of lung hypoexpansion in acute childhood asthma

    International Nuclear Information System (INIS)

    Spottswood, Stephanie E.; Allison, Kelley Z.; Narla, Lakshmana D.; Lowry, Patricia A.; Lopatina, Olga A.; Sethi, Narinder N.; Nettleman, Mary D.

    2004-01-01

    Many children experiencing acute asthmatic episodes have chest radiographs, which may show lung hyperinflation, hypoinflation, or normal inflation. Lung hypoinflation may be a sign of respiratory fatigue and poor prognosis. To compare the clinical course in children with asthma according to the degree of lung inflation on chest radiographs. We conducted a retrospective study during a 24-month period (from July 1999 to July 2001) of children aged 0-17 years, who presented to a pediatric emergency department or outpatient clinic with an asthma exacerbation. Chest radiographs obtained at presentation were reviewed independently by three pediatric radiologists who were blinded to the admission status of the patient. The correlation between hypoinflation and hospital admission was assessed in three age groups: 0-2 years, 3-5 years, and 6-17 years. Hypoinflation on chest radiographs was significantly correlated with hospital admission for children aged 6-17 years (odds ratio 16.00, 95% confidence interval 1.89-135.43). The inter-reader agreement for interpretation of these radiographs was strong, with a kappa score of 0.76. Hypoinflation was not correlated with admission in younger children. Lung hypoinflation is associated with a greater likelihood of hospital admission in children aged 6 years or older. Therefore, hypoinflation was a poor prognostic sign and may warrant more aggressive therapy. (orig.)

  13. The clinical significance of lung hypoexpansion in acute childhood asthma

    Energy Technology Data Exchange (ETDEWEB)

    Spottswood, Stephanie E. [Department of Radiology, Medical College of Virginia, Virginia Commonwealth University Health System, Box 980615, 23298-0615, Richmond, VA (United States); Department of Radiology, The Children' s Hospital of the King' s Daughters, 601 Children' s Lane, Norfolk, VA 23507 (United States); Allison, Kelley Z.; Narla, Lakshmana D.; Lowry, Patricia A. [Department of Radiology, Medical College of Virginia, Virginia Commonwealth University Health System, Box 980615, 23298-0615, Richmond, VA (United States); Lopatina, Olga A.; Sethi, Narinder N. [School of Medicine, Medical College of Virginia, Virginia Commonwealth University Health System, Richmond, VA (United States); Nettleman, Mary D. [Department of Internal Medicine, B-427 Clinical Center, Michigan State University, East Lansing, MI 48824 (United States)

    2004-04-01

    Many children experiencing acute asthmatic episodes have chest radiographs, which may show lung hyperinflation, hypoinflation, or normal inflation. Lung hypoinflation may be a sign of respiratory fatigue and poor prognosis. To compare the clinical course in children with asthma according to the degree of lung inflation on chest radiographs. We conducted a retrospective study during a 24-month period (from July 1999 to July 2001) of children aged 0-17 years, who presented to a pediatric emergency department or outpatient clinic with an asthma exacerbation. Chest radiographs obtained at presentation were reviewed independently by three pediatric radiologists who were blinded to the admission status of the patient. The correlation between hypoinflation and hospital admission was assessed in three age groups: 0-2 years, 3-5 years, and 6-17 years. Hypoinflation on chest radiographs was significantly correlated with hospital admission for children aged 6-17 years (odds ratio 16.00, 95% confidence interval 1.89-135.43). The inter-reader agreement for interpretation of these radiographs was strong, with a kappa score of 0.76. Hypoinflation was not correlated with admission in younger children. Lung hypoinflation is associated with a greater likelihood of hospital admission in children aged 6 years or older. Therefore, hypoinflation was a poor prognostic sign and may warrant more aggressive therapy. (orig.)

  14. Outcome following late marrow relapse in childhood acute lymphoblastic leukemia

    International Nuclear Information System (INIS)

    Chessells, J.; Leiper, A.; Rogers, D.

    1984-01-01

    Thirty-four children with acute lymphoblastic leukemia, who developed bone marrow relapse after treatment was electively stopped, received reinduction, consolidation, continuing therapy, and intrathecal (IT) methotrexate (MTX). Sixteen children who relapsed within six months of stopping treatment had a median second-remission duration of 26 weeks; all next relapses occurred in the bone marrow. In 18 children who relapsed later, the median duration of second remission was in excess of two years, but after a minimum of four years follow-up, 16 patients have so far relapsed again (six in the CNS). CNS relapse occurred as a next event in four of 17 children who received five IT MTX injections only and in two of 14 children who received additional regular IT MTX. Although children with late marrow relapses may achieve long second remissions, their long-term out-look is poor, and regular IT MTX does not afford adequate CNS prophylaxis. It remains to be seen whether more intensive chemotherapy, including high-dose chemoradiotherapy and bone marrow transplantation, will improve the prognosis in this group of patients

  15. Philadelphia chromosome-positive acute lymphoblastic leukemia in childhood

    Directory of Open Access Journals (Sweden)

    Hong Hoe Koo

    2011-03-01

    Full Text Available In pediatric patients with acute lymphoblastic leukemia (ALL, the Philadelphia chromosome translocation is uncommon, with a frequency of less than 5%. However, it is classified as a high or very high risk, and only 20&#8210;30% of Philadelphia chromosome-positive (Ph+ children with ALL are cured with chemotherapy alone. Allogeneic hematopoietic stem cell transplantation from a closely matched donor cures 60% of patients in first complete remission. Recent data suggest that chemotherapy plus tyrosine kinase inhibitors (TKIs may be the initial treatment of choice for Ph+ ALL in children. However, longer observation is required to determine whether long-term outcome with intensive imatinib and chemotherapy is indeed equivalent to that with allogeneic related or alternative donor hematopoietic stem cell transplantation (HSCT. Reports on the use of second-generation TKIs in children with Ph+ ALL are limited. A few case reports have indicated the feasibility and clinical benefit of using dasatinib as salvage therapy enabling HSCT. However, more extensive data from clinical trials are needed to determine whether the administration of secondgeneration TKIs in children is comparable to that in adults. Because Ph+ ALL is rare in children, the question of whether HSCT could be a dispensable part of their therapy may not be answered for some time. An international multicenter study is needed to answer the question of whether imatinib plus chemotherapy could replace sibling allogeneic HSCT in children with Ph+ ALL.

  16. Implications of infectious diseases and the adrenal hypothesis for the etiology of childhood acute lymphoblastic leukemia

    Directory of Open Access Journals (Sweden)

    F. Azevedo-Silva

    2010-03-01

    Full Text Available Acute leukemia is the most frequent cancer in children. Recently, a new hypothesis was proposed for the pathogenesis of childhood acute lymphoblastic leukemia (ALL. The so-called "adrenal hypothesis" emphasized the role of endogenous cortisol in the etiology of B-cell precursor ALL. The incidence peak of ALL in children between 3 to 5 years of age has been well documented and is consistent with this view. The adrenal hypothesis proposes that the risk of childhood B-cell precursor ALL is reduced when early childhood infections induce qualitative and quantitative changes in the hypothalamus-pituitary-adrenal axis. It suggests that the increased plasma cortisol levels would be sufficient to eliminate all clonal leukemic cells originating during fetal life. Because Brazil is a continental and tropical country, the exposure to infections is diversified with endemic viral and regionally non-viral infections, with some characteristics that support the recent adrenal hypothesis. Here we discuss this new hypothesis in terms of data from epidemiological studies and the possible implications of the diversity of infections occurring in Brazilian children.

  17. Constitutional sequence variation in the Fanconi anaemia group C (FANCC) gene in childhood acute myeloid leukaemia.

    Science.gov (United States)

    Barber, Lisa M; McGrath, Helen E N; Meyer, Stefan; Will, Andrew M; Birch, Jillian M; Eden, Osborn B; Taylor, G Malcolm

    2003-04-01

    The extent to which genetic susceptibility contributes to the causation of childhood acute myeloid leukaemia (AML) is not known. The inherited bone marrow failure disorder Fanconi anaemia (FA) carries a substantially increased risk of AML, raising the possibility that constitutional variation in the FA (FANC) genes is involved in the aetiology of childhood AML. We have screened genomic DNA extracted from remission blood samples of 97 children with sporadic AML and 91 children with sporadic acute lymphoblastic leukaemia (ALL), together with 104 cord blood DNA samples from newborn children, for variations in the Fanconi anaemia group C (FANCC) gene. We found no evidence of known FANCC pathogenic mutations in children with AML, ALL or in the cord blood samples. However, we detected 12 different FANCC sequence variants, of which five were novel to this study. Among six FANCC variants leading to amino-acid substitutions, one (S26F) was present at a fourfold greater frequency in children with AML than in the cord blood samples (odds ratio: 4.09, P = 0.047; 95% confidence interval 1.08-15.54). Our results thus do not exclude the possibility that this polymorphic variant contributes to the risk of a small proportion of childhood AML.

  18. Severe Hypertriglyceridemia During Therapy For Childhood Acute Lymphoblastic Leukemia

    Science.gov (United States)

    Bhojwani, Deepa; Darbandi, Rashid; Pei, Deqing; Ramsey, Laura B.; Chemaitilly, Wassim; Sandlund, John T.; Cheng, Cheng; Pui, Ching-Hon; Relling, Mary V.; Jeha, Sima; Metzger, Monika L.

    2014-01-01

    Background Asparaginase and steroids can cause hypertriglyceridemia in children with acute lymphoblastic leukemia (ALL). There are no guidelines for screening or management of patients with severe hypertriglyceridemia (>1000 mg/dL) during ALL therapy. Patients and Methods Fasting lipid profiles were obtained prospectively at 4 time-points for 257 children consecutively enrolled on a frontline ALL study. Risk factors were evaluated by the exact chi-square test. Details of adverse events and management of hypertriglyceridemia were extracted retrospectively. Results Eighteen of 257 (7%) patients developed severe hypertriglyceridemia. Older age and treatment with higher doses of asparaginase and steroids on the standard/high-risk arm were significant risk factors. Severe hypertriglyceridemia was not associated with pancreatitis after adjustment for age and treatment arm or with osteonecrosis after adjustment for age. However, patients with severe hypertriglyceridemia had a 2.5 to 3 times higher risk of thrombosis compared to patients without, albeit the difference was not statistical significant. Of the 30 episodes of severe hypertriglyceridemia in 18 patients, 7 were managed conservatively while the others with pharmacotherapy. Seventeen of 18 patients continued to receive asparaginase and steroids. Triglyceride levels normalized after completion of ALL therapy in all 12 patients with available measurements. Conclusion Asparaginase- and steroid-induced transient hypertriglyceridemia can be adequately managed with dietary modifications and close monitoring without altering chemotherapy. Patients with severe hypertriglyceridemia were not at increased risk of adverse events, with a possible exception of thrombosis. The benefit of pharmacotherapy in decreasing symptoms and potential complications requires further investigation. PMID:25087182

  19. Non-infectious chemotherapy-associated acute toxicities during childhood acute lymphoblastic leukemia therapy

    DEFF Research Database (Denmark)

    Schmiegelow, Kjeld; Müller, Klaus Gottlob; Mogensen, Signe Sloth

    2017-01-01

    obstruction syndrome, endocrinopathies (especially steroid-induced adrenal insufficiency and hyperglycemia), high-dose methotrexate-induced nephrotoxicity, asparaginase-associated hypersensitivity, pancreatitis, and hyperlipidemia. Few of the non-infectious acute toxicities are associated with clinically...

  20. Visual Attention and Math Performance in Survivors of Childhood Acute Lymphoblastic Leukemia.

    Science.gov (United States)

    Richard, Annette E; Hodges, Elise K; Heinrich, Kimberley P

    2018-01-24

    Attentional and academic difficulties, particularly in math, are common in survivors of childhood acute lymphoblastic leukemia (ALL). Of cognitive deficits experienced by survivors of childhood ALL, attention deficits may be particularly responsive to intervention. However, it is unknown whether deficits in particular aspects of attention are associated with deficits in math skills. The current study investigated relationships between math calculation skills, performance on an objective measure of sustained attention, and parent- and teacher-reported attention difficulties. Twenty-four survivors of childhood ALL (Mage = 13.5 years, SD= 2.8 years) completed a computerized measure of sustained attention and response control and a written measure of math calculation skills in the context of a comprehensive clinical neuropsychological evaluation. Parent and teacher ratings of inattention and impulsivity were obtained. Visual response control and visual attention accounted for 26.4% of the variance observed among math performance scores after controlling for IQ (p < .05). Teacher-rated, but not parent-rated, inattention was significantly negatively correlated with math calculation scores. Consistency of responses to visual stimuli on a computerized measure of attention is a unique predictor of variance in math performance among survivors of childhood ALL. Objective testing of visual response control, rather than parent-rated attentional problems, may have clinical utility in identifying ALL survivors at risk for math difficulties. © The Author(s) 2018. Published by Oxford University Press. All rights reserved. For permissions, please e-mail: journals.permissions@oup.com.

  1. Topical action of Buriti oil (Mauritia flexuosa L.) in myositis induced in rats.

    Science.gov (United States)

    Barbosa, Marília Ursulino; Silva, Marcello de Alencar; Barros, Esmeralda Maria Lustosa; Barbosa, Margarida Ursulino; Sousa, Rayssilane Cardoso de; Lopes, Mateus Aguiar da Costa; Coelho, Nayana Pinheiro Machado de Freitas

    2017-11-01

    To analyze the topical effects of Buriti oil (Mauritia flexuosa L.) in induced myositis in rats. Thirty six male rats divided into three groups: Control group (C), induced myositis group (MI) and induced myositis group reated with Mauritia flexuosa L. (MT). After inducing myositis with 1% acetic acid, was topically applied 0.5 ml of Mauritia flexuosa L.extract on the posterior region of the right gastrocnemius muscle in animals belonging to group MT, for 7 and 14 days. The neutrophil number there was statistically significant difference, after 7 and 14 days, between groups C and MI (p <0.001) (p<0.01). The group MT there was a significant difference in relation to MI group in both experimental times with (p<0.001). The number of fibroblasts in the 14 days showed that when comparing the groups M and MT the differences were also significant (p<0.001). As for the DLL, in 7 days, there was a significant difference between group C and MI group (p <0.001). When considering the MT group, there was a significant difference in relation to the MI group (p <0.001). The extract of Mauritia flexuosa L. leaves lessened acute and chronic inflammation, increased fibroblast proliferation and reduced macroscopically edema.

  2. Medical and Surgical Treatment in Pediatric Orbital Myositis Associated with Coxsackie Virus

    Directory of Open Access Journals (Sweden)

    Pedro Gil

    2015-01-01

    Full Text Available Purpose. To report a case of orbital myositis associated with Coxsackie virus and its medical and surgical approach. Methods. Complete ophthalmological examination and imaging and analytical investigation were performed. Results. A 6-year-old male presented with subacute painless binocular horizontal diplopia. Examination revealed bilateral best-corrected visual acuity (BCVA of 20/20 and right eye 45-prism-dioptre (PD esotropia in near and distance fixations, with no motility restrictions. Serologic screening was positive for Coxsackie virus acute infection and computerized tomography (CT suggested right eye medial rectus orbital myositis. An oral corticosteroid 1.0 mg/kg/day regimen was started. A new CT after two months showed symmetrical lesions in both medial rectus muscles. Corticosteroids were increased to 1.5 mg/kg/day. After imagiological resolution on the 4th month, alternating 45 PD esotropia persisted. Bilateral 7 mm medial rectus recession was performed after 1 year without spontaneous recovery. At 1-year follow-up, the patient is orthophoric with 200′′ stereopsis and bilateral 20/20 BCVA. Conclusions. To our knowledge, this is the first reported case of orbital myositis associated with Coxsackie virus. This is also the first reported case of isolated strabismus surgery after orbital myositis in pediatric age, highlighting the favourable aesthetic and functional outcomes even in cases of late ocular motility disorders.

  3. [New insights of myositis-specific and -associated autoantibodies in juvenile and adult type myositis].

    Science.gov (United States)

    Váncsa, Andrea; Dankó, Katalin

    2016-07-01

    Myositis, which means inflammation of the muscles, is a general term used for inflammatory myopathies. Myositis is a rare idiopathic autoimmune disease. It is believed that environmental factors such as virus, bacteria, parasites, direct injuries, drugs side effect can trigger the immune system of genetically susceptible individuals to act against muscle tissues. There are several types of myositis with the same systemic symptoms such as muscle weakness, fatigue, muscle pain and inflammation. These include dermatomyositis, juvenile dermatomyositis, inclusion-body myositis, polymyositis, orbital myositis and myositis ossificans. Juvenile and adult dermatomyositis are chronic, immune-mediated inflammatory myopathies characterized by progressive proximal muscle weakness and typical skin symptoms. The aim of the authors was to compare the symptoms, laboratory and serological findings and disease course in children and adult patients with idiopathic inflammatory myopathy. Early diagnosis and aggressive immunosuppressive treatment improve the mortality of these patients. Myositis-specific autoantibodies have predictive and prognostic values regarding the associated overlap disease, response to treatment and disease course. The authors intend to lighten the clinical and pathogenetic significance of the new target autoantigens. Orv. Hetil., 2016, 157(29), 1179-1184.

  4. [Evaluation of association between an acute attack of childhood bronchial asthma and Chlamydia pneumoniae infection].

    Science.gov (United States)

    Jiang, Yi; Liu, Xing-Lian; Xing, Fu-Qiang; Yang, Ju-Sheng; Tu, Hong

    2006-04-01

    To identify whether there is an association between an acute attack of childhood bronchial asthma and Chlamydia pneumoniae (CP) infection. Serum specific antibodies IgM and IgG to CP were detected by ELISA in 120 asthmatic children with an acute attack and 82 healthy children. Anti-CP IgM was demonstrated in 22 cases (18.3%) and anti-CP IgG was demonstrated in 32 cases (26.7%) out of the 120 asthmatic patients. The incidence of CP infection in asthmatic children was significantly higher than that in healthy controls (3.7%) (P attack of asthma in 15 cases out of the 32 cases with CP infection, but 17 cases required glucocorticoid inhalation treatment together with anti-CP infection treatment (macrolide antibiotics, eg. azithromycin) for remission of asthma attack. There may be a link between an acute attack of childhood asthma and CP infection. It is thus necessary to detect the CP-specific antibodies in asthmatic children for proper treatment.

  5. Childhood central nervous system leukemia: historical perspectives, current therapy, and acute neurological sequelae

    Energy Technology Data Exchange (ETDEWEB)

    Laningham, Fred H. [St. Jude Children' s Research Hospital, Division of Diagnostic Imaging, Department of Radiological Sciences, Memphis, TN (United States); University of Tennessee Health Sciences Center, Memphis, TN (United States); Kun, Larry E. [St. Jude Children' s Research Hospital, Division of Radiation Oncology, Department of Radiological Sciences, Memphis, TN (United States); University of Tennessee Health Sciences Center, Memphis, TN (United States); Reddick, Wilburn E.; Ogg, Robert J. [St. Jude Children' s Research Hospital, Division of Translational Imaging Research, Department of Radiological Sciences, Memphis, TN (United States); Morris, E.B. [St. Jude Children' s Research Hospital, Department of Oncology, Memphis, TN (United States); Pui, Ching-Hon [St. Jude Children' s Research Hospital, Department of Oncology, Memphis, TN (United States); University of Tennessee Health Sciences Center, Memphis, TN (United States)

    2007-11-15

    During the past three decades, improvements in the treatment of childhood leukemia have resulted in high cure rates, particularly for acute lymphoblastic leukemia (ALL). Unfortunately, successful therapy has come with a price, as significant morbidity can result from neurological affects which harm the brain and spinal cord. The expectation and hope is that chemotherapy, as a primary means of CNS therapy, will result in acceptable disease control with less CNS morbidity than has been observed with combinations of chemotherapy and radiotherapy over the past several decades. In this review we discuss the poignant, historical aspects of CNS leukemia therapy, outline current methods of systemic and CNS leukemia therapy, and present imaging findings we have encountered in childhood leukemia patients with a variety of acute neurological conditions. A major objective of our research is to understand the neuroimaging correlates of acute and chronic effects of cancer and therapy. Specific features related to CNS leukemia and associated short-term toxicities, both disease- and therapy-related, are emphasized in this review with the specific neuroimaging findings. Specific CNS findings are similarly important when treating acute myelogenous leukemia (AML), and details of leukemic involvement and toxicities are also presented in this entity. Despite contemporary treatment approaches which favor the use of chemotherapy (including intrathecal therapy) over radiotherapy in the treatment of CNS leukemia, children still occasionally experience morbid neurotoxicity. Standard neuroimaging is sufficient to identify a variety of neurotoxic sequelae in children, and often suggest specific etiologies. Specific neuroimaging findings frequently indicate a need to alter antileukemia therapy. It is important to appreciate that intrathecal and high doses of systemic chemotherapy are not innocuous and are associated with acute, specific, recognizable, and often serious neurological

  6. Childhood central nervous system leukemia: historical perspectives, current therapy, and acute neurological sequelae

    International Nuclear Information System (INIS)

    Laningham, Fred H.; Kun, Larry E.; Reddick, Wilburn E.; Ogg, Robert J.; Morris, E.B.; Pui, Ching-Hon

    2007-01-01

    During the past three decades, improvements in the treatment of childhood leukemia have resulted in high cure rates, particularly for acute lymphoblastic leukemia (ALL). Unfortunately, successful therapy has come with a price, as significant morbidity can result from neurological affects which harm the brain and spinal cord. The expectation and hope is that chemotherapy, as a primary means of CNS therapy, will result in acceptable disease control with less CNS morbidity than has been observed with combinations of chemotherapy and radiotherapy over the past several decades. In this review we discuss the poignant, historical aspects of CNS leukemia therapy, outline current methods of systemic and CNS leukemia therapy, and present imaging findings we have encountered in childhood leukemia patients with a variety of acute neurological conditions. A major objective of our research is to understand the neuroimaging correlates of acute and chronic effects of cancer and therapy. Specific features related to CNS leukemia and associated short-term toxicities, both disease- and therapy-related, are emphasized in this review with the specific neuroimaging findings. Specific CNS findings are similarly important when treating acute myelogenous leukemia (AML), and details of leukemic involvement and toxicities are also presented in this entity. Despite contemporary treatment approaches which favor the use of chemotherapy (including intrathecal therapy) over radiotherapy in the treatment of CNS leukemia, children still occasionally experience morbid neurotoxicity. Standard neuroimaging is sufficient to identify a variety of neurotoxic sequelae in children, and often suggest specific etiologies. Specific neuroimaging findings frequently indicate a need to alter antileukemia therapy. It is important to appreciate that intrathecal and high doses of systemic chemotherapy are not innocuous and are associated with acute, specific, recognizable, and often serious neurological

  7. Myositis ossificans in rectus abdominis muscle: case report

    International Nuclear Information System (INIS)

    Ko, Eun Sook; Na, Jae Boem

    2004-01-01

    Myositis ossificans is an ossifying inflammatory lesion occurring within skeletal muscle. Myositis ossificans usually arises in the large muscles of the extremities and this lesion is characterized by progression of mineralization from periphery to center. In the early phase, myositis ossificans simulates malignant soft tissue tumor without dense mineralization. Traumatic myositis ossificans in rectus abdominis muscle has been reported worldwide. The radiologic findings of early active myositis ossificans in rectus abdominis muscle are ill defined heterogenous hypoechoic mass on US, hemorrhage, early strong enhancement and early peripheral mineralization on CT and MR

  8. Myositis ossificans in rectus abdominis muscle: case report

    Energy Technology Data Exchange (ETDEWEB)

    Ko, Eun Sook; Na, Jae Boem [Gyeongsang National University College of Medicine, Jinju (Korea, Republic of)

    2004-10-15

    Myositis ossificans is an ossifying inflammatory lesion occurring within skeletal muscle. Myositis ossificans usually arises in the large muscles of the extremities and this lesion is characterized by progression of mineralization from periphery to center. In the early phase, myositis ossificans simulates malignant soft tissue tumor without dense mineralization. Traumatic myositis ossificans in rectus abdominis muscle has been reported worldwide. The radiologic findings of early active myositis ossificans in rectus abdominis muscle are ill defined heterogenous hypoechoic mass on US, hemorrhage, early strong enhancement and early peripheral mineralization on CT and MR.

  9. Improved outcome of childhood acute myeloid leukemia in an Eastern European country: Lithuanian experience.

    Science.gov (United States)

    Kairiene, Igne; Pasauliene, Ramune; Lipunova, Nadezda; Vaitkeviciene, Goda; Rageliene, Lina; Rascon, Jelena

    2017-10-01

    The reported treatment outcomes of children treated for cancer in Eastern European countries are inferior to those in Northern/Western Europe. We hypothesized that recent survival rates could be comparable to the current standards and performed a population-based analysis of treatment outcome of childhood acute myeloid leukemia (AML) in Lithuania, a small Eastern European country. Children  80% in high-income countries. The difference in survival rates between Northern/Western and Eastern European countries as well as between high- and middle-/low-income countries is as much as 20%. Recently, the 5-year event-free survival rate of acute myeloid leukemia (AML) has reached > 60% in high-income countries. The survival rates for myeloproliferative diseases were the lowest in Eastern European countries. • The reported inferior survival rates were calculated based on outcome data of patients treated until 2007. The recent survival rates in Eastern European countries are unknown. What is New: • Being a small Eastern European country, Lithuania has experienced good economic growth during the last decade. We hypothesized that economic growth and gain of experience could result in better survival rates of children treated for cancer in our country in recent years. • A population-based analysis of treatment outcome of childhood AML treated in Lithuania in the recent years was performed for the first time. The survival rates of childhood AML in Lithuania are comparable to those of other high-income countries. Current survival rates of children treated for cancer in Eastern European countries could be comparable to the best current standards contributing to better European survival rates of childhood cancer in general.

  10. The role of radiation therapy in childhood acute leukemia. A review from the viewpoint of basic and clinical radiation oncology

    International Nuclear Information System (INIS)

    Nozaki, Miwako

    2003-01-01

    Radiation therapy has been playing important roles in the treatment of childhood acute leukemia since the 1970s. The first is the preventive cranial irradiation for central nervous system therapy in acute lymphoblastic leukemia. The second is the total body irradiation as conditioning before bone marrow transplantation for children with acute myeloid leukemia in first remission and with acute lymphoblastic leukemia in second remission. Although some late effects have been reported, a part of them could be overcome by technical improvement in radiation and salvage therapy. Radiation therapy for children might have a successful outcome on a delicate balance between efficiencies and potential late toxicities. The role of radiation therapy for childhood acute leukemia was reviewed from the standpoint of basic and clinical radiation oncology in this paper. (author)

  11. Acute necrotizing encephalopathy of childhood: a fatal complication of swine flu

    International Nuclear Information System (INIS)

    Khan, M.R.; Maheshwari, P.K.; Haque, A.

    2010-01-01

    Acute necrotizing encephalopathy of childhood (ANEC) is a rare condition characterized by the presence of multifocal symmetrical brain lesions involving mainly thalami, brainstem, cerebellum and white matter. ANEC is a serious and life threatening complication of simple viral infections. We present a case of a young child who developed this condition with classical clinical and radiological findings consistent with ANEC, secondary to swine flu (H1N1). He needed ventilatory support and had profound motor and intellectual deficit on discharge. We report this case with aim of raising awareness about this fatal complication of swine flu which has become a global health care issue these days. (author)

  12. Extremely low-frequency magnetic fields and survival from childhood acute lymphoblastic leukemia

    DEFF Research Database (Denmark)

    Schüz, J; Grell, K; Kinsey, S

    2012-01-01

    A previous US study reported poorer survival in children with acute lymphoblastic leukemia (ALL) exposed to extremely low-frequency magnetic fields (ELF-MF) above 0.3 μT, but based on small numbers. Data from 3073 cases of childhood ALL were pooled from prospective studies conducted in Canada......, Denmark, Germany, Japan, UK and US to determine death or relapse up to 10 years from diagnosis. Adjusting for known prognostic factors, we calculated hazard ratios (HRs) and 95% confidence intervals (CI) for overall survival and event-free survival for ELF-MF exposure categories and by 0.1 μT increases...

  13. Childhood acute lymphoblastic leukemia presenting as ''cold'' lesions on bone scan: a report of two cases

    International Nuclear Information System (INIS)

    Caudle, R.J.; Crawford, A.H.; Gelfand, M.J.; Gruppo, R.A.

    1987-01-01

    ''Cold'' lesions on bone scan have been reported in a variety of disease processes, including infection, avascular necrosis, and cysts. We present two cases of children who presented with large ''cold'' areas on technetium bone scans and were treated initially for septic processes. Acute childhood leukemia frequently presents with bone or joint pain, fever, and elevation of the erythrocyte sedimentation rate. Although the diagnosis may be difficult if the characteristic clinical signs and laboratory findings are absent, the presence of anemia should alert the physician to the possibility of malignancy. Bone scanning provides a sensitive method of localizing pathology, but diagnosis requires biopsy or marrow aspiration

  14. Risk factors for treatment related mortality in childhood acute lymphoblastic leukaemia

    DEFF Research Database (Denmark)

    Lund, Bendik; Åsberg, Ann; Heyman, Mats

    2011-01-01

    -cell disease (HR: 1.9, 95% CI: 1.01-3.7), Down syndrome (HR: 7.3, 95% CI: 3.6-14.9) and haematopoietic stem cell transplantation in CR1 (HR: 8.0, 95% CI: 3.3-19.5) were identified as independent risk factors for TRD. CONCLUSION: Several TRDs were potentially preventable and future efforts should be directed......BACKGROUND: In spite of major improvements in the cure rate of childhood acute lymphoblastic leukaemia (ALL), 2-4% of patients still die from treatment related complications. PROCEDURE: We investigated the pattern of treatment related deaths (TRDs) and possible risk factors in the NOPHO ALL-92...

  15. Ophthalmic evaluation of long-term survivors of childhood acute lymphoblastic leukemia

    International Nuclear Information System (INIS)

    Weaver, R.G. Jr.; Chauvenet, A.R.; Smith, T.J.; Schwartz, A.C.

    1986-01-01

    Thirty-four long-term survivors of childhood acute lymphoblastic leukemia (ALL) underwent comprehensive ophthalmic examinations to detect retinopathy or other ocular sequelae. Sixteen of the 34 patients received whole brain radiation (greater than or equal to 2400 rad). All 18 patients in the non-radiated group had normal eye examinations, while 4 of 16 in the radiated group had ocular abnormalities. None of the ocular abnormalities could be definitely attributed to radiation and all patients had normal visual acuity. No radiation retinopathy was found in either group

  16. Miosite e rabdomiólise na doença mão-pé-boca na infância Myositis and rhabdomyolysis in hand-foot-mouth disease in childhood

    Directory of Open Access Journals (Sweden)

    Maria Helena Vaisbich

    2010-03-01

    Full Text Available OBJETIVO: Relatar um caso de doença mão-pé-boca complicada por miosite, rabdomiólise e hepatite, interessante por ser a doença frequente em crianças e poder apresentar complicações graves, apesar de raras. DESCRIÇÃO DO CASO: Paciente de três anos de idade, sexo feminino, com história de febre por três dias, seguida pelo aparecimento de lesões ulceradas em mucosa oral e mialgia intensa. Após três dias, voltou a apresentar febre por mais dois dias (febre bifásica. Nesses dois dias, apresentou lesões eritematosas pelo corpo, principalmente nos pés, mãos e face, e procurou atendimento médico. Evoluiu com aumento de enzimas musculares e hepáticas (CPK com valor máximo de 345.007U/L, TGO 2041U/L, TGP 1589U/L, gama-GT 94U/L e aumento transitório da creatinina sérica, com clearance de creatinina estimado pela estatura de 73mL/minuto/1,73m2 de superfície corporal. Houve melhora progressiva, com hidratação vigorosa e alcalinização da urina, sem necessidade de diálise. COMENTÁRIOS: Trata-se de uma criança com doença mão-pé-boca, com miosite, rabdomiólise e hepatite. São enfatizados os critérios clínicos laboratoriais para o diagnóstico e a importância da monitorização das complicações da doençaOBJECTIVE: To report a hand-foot-mouth disease case, complicated by myositis, rhabdomyolisis and hepatitis, since this is a common disease in children and can result in rare but severe complications. CASE DESCRIPTION: A three-year-old girl with fever for three days, followed by the appearance of ulcerative lesions in the oral mucosa and severe muscular pain; after three days, she presented fever for two more days. At the same time, she had widespread erythematosus rash, especially in her hands, feet and face. She presented high levels of muscular and hepatic enzymes (maximum value of CPK 345.007IU/L, AST 2041IU/L, ALT 1589IU/L, GT 94IU/L, and transitory increase in serum creatinine (maximum value of 0.73mg/dL, creatinine

  17. Necrotising Myositis, the Deadly Impersonator

    Directory of Open Access Journals (Sweden)

    A. Rahman

    2014-01-01

    Full Text Available We report two cases of patients with necrotising myositis who presented initially with limb pain and swelling on a background of respiratory complaints. Patient 1, a previously well 38-year-old female, underwent various investigations in the emergency department for excessive lower limb pain and a skin rash. Patient 2, a 61-year-old female with a background of rheumatoid arthritis and hypertension, presented to accident and emergency feeling generally unwell and was treated for presumed respiratory sepsis. Both deteriorated rapidly and were referred to the plastic surgery team with soft tissue necrosis, impending multiorgan failure and toxaemia. Large areas of necrotic muscle and skin were debrided, which grew group A streptococci, Streptococcus pyogenes. Patient 1 had a high above knee amputation of the left leg with extensive debridement of the right. Despite aggressive surgical intervention and microbiological input with intensive care support, patient 2 died. These two cases highlight the importance of early diagnosis and prompt surgical and pharmacological intervention in managing this life-threatening disease. Pain is the primary symptom with skin changes being a late and subtle sign in a septic patient. The Laboratory Risk Indicator for Necrotising Fasciitis (LRINEC may be of use if there is concern to aid diagnosis of this life-threatening disease.

  18. Radiologic Findings in Gabapentin-Induced Myositis.

    Science.gov (United States)

    Coupal, Tyler Michael; Chang, David Ross; Pennycooke, Kevin; Ouellette, Hugue Alcide; Munk, Peter Loren

    2017-04-01

    Throughout recent years, Gabapentin has become increasingly used for the treatment of neuropathic pain. We report on a case of a 31 year old female who presented to the emergency department with unilateral leg pain, weakness, and swelling after increasingly titrating her Gabapentin dosage over three weeks. Magnetic resonance imaging confirmed the presence of myositis confined to the left thigh and the patient's symptoms and laboratory abnormalities resolved following Gabapentin cessation. While Gabapentin-induced myositis and rhabdomyolysis is a rare entity, it should be a diagnostic consideration for radiologists, particularly in the absence of infection or trauma.

  19. Merits of magnetic resonance imaging (MRI) for the diagnosis of myositis ossificans circumscripta

    International Nuclear Information System (INIS)

    Bouchardy, L.; Garcia, J.

    1994-01-01

    A retrospective study of 5 cases, 4 of myositis ossificans circumscripta (MOC) and 1 of non-ossificans myositis, is presented. The clinical presentation was a painful soft-tissues swelling, and the final diagnosis was established by biopsy in 3 cases and clinical evolution in 2 cases. Different types of imaging techniques were performed: 4 MRI, 2 arteriographies, 3 Tc 99m scintigraphies, 3 US, 3 CT and plain film radiographs for all patients. MOC is a benign process (as opposed to myositis ossificans progressiva, which is an hereditary pathology with a fatal prognosis) with 3 phases of evolution: an acute or pseudo-inflammatory phase, a sub-acute or pseudo-tumoral phase and a chronic phase with a spontaneous healing. The radiologic diagnostic findings are dependent of the phase of the disease. The calcifications are seen earlier with scintigraphy than plain films, with US being less helpful. A heterogenous mass and calcifications are seen with CT. MRI allows the characterization of oedema during the acute phase and sometimes can exclude a malignant process. MRI is the best method for an early diagnosis, the differential diagnosis and to follow the evolution. (authors). 26 refs., 8 figs

  20. Primary segmental omental infarction as a rare cause of acute abdominal pain in childhood

    Directory of Open Access Journals (Sweden)

    N.F. Tepeneu

    2018-01-01

    Full Text Available Introduction: Primary omental infarction (POI has a low incidence worldwide, with most cases occurring in adults. This condition is rarely considered in the differential diagnosis of acute abdominal pain in childhood. Material and methods: We present 2 cases of omental infarction in an obese 8-year-old boy and a 5-year-old boy who presented with acute abdominal pain in the right abdomen. Both patients were initially treated with intravenous fluids and analgesics with no improvement. Abdominal ultrasound of the first patient showed free intraperitoneal fluid, meteorism and distended bowel loops. The appendix was not visualized. With a presumptive clinical diagnosis of appendicitis the child underwent laparotomy.On entering the peritoneal cavity an omental infarction was seen and a portion of the omentum was resected. Appendectomy was performed.The second patient presented with acute abdominal pain in the right upper quadrant, which started 2 days before. There was a history of possible abdominal trauma about 3 weeks earlier. The patient had repeated ultrasound examinations and a CT scan of the abdomen which showed a omental infarction. He underwent laparoscopy and resection of the omental infarction, as well as incidental appendectomy. Results: The postoperative period was uneventful. The first patient was discharged on day 3, the second patient on day 4 after surgery. Histology showed a normal vermiform appendix and an omental infarction in both cases. Conclusion and discussion: Since the omental infarction as etiology of acute abdominal pain is uncommon in children, we emphasize the importance of accurate diagnosis and appropriate treatment of omental infarction. Keywords: Primary segmental omental infarction (POI, Appendicitis, Childhood

  1. Cranial radiotherapy predisposes to abdominal adiposity in survivors of childhood acute lymphocytic leukemia

    International Nuclear Information System (INIS)

    Siviero-Miachon, Adriana Aparecida; Spinola-Castro, Angela Maria; Lee, Maria Lúcia de Martino; Andreoni, Solange; Geloneze, Bruno; Lederman, Henrique; Guerra-Junior, Gil

    2013-01-01

    Advances in treatment of acute lymphocytic leukemia increased the likelihood of developing late treatment-associated effects, such as abdominal adiposity, increasing the risk of cardiovascular disease in this population. Cranial radiotherapy is one of the factors that might be involved in this process. The aim of this study was to determine the effect of cranial radiotherapy on adiposity indexes in survivors of acute lymphocytic leukemia. A comparative cross-sectional study of 56 acute lymphocytic leukemia survivors, chronological age between 15 and 24 years, assigned into two groups according to the exposure to cranial radiotherapy (25 irradiated and 31 non-irradiated), assessed according to body fat (dual energy X-ray absorptiometry), computed tomography scan-derived abdominal adipose tissue, lipid profile, and insulin resistance. Cranial radiotherapy increased body fat and abdominal adipose tissue and altered lipid panel. Yet, lipids showed no clinical relevance so far. There were significantly more obese patients among those who received cranial radiotherapy (52% irradiated versus 22.6% non-irradiated), based on dual energy X-ray absorptiometry body fat measurements. Nonetheless, no association was observed between cranial radiotherapy and body mass index, waist circumference, waist-to-height ratio or insulin resistance. Adolescent and young adult survivors of childhood acute lymphocytic leukemia showed an increase in body fat and an alteration of fat distribution, which were related to cranial radiotherapy. Fat compartment modifications possibly indicate a disease of adipose tissue, and cranial radiotherapy imports in this process

  2. Molecular signatures in childhood acute leukemia and their correlations to expression patterns in normal hematopoietic subpopulations.

    Science.gov (United States)

    Andersson, Anna; Olofsson, Tor; Lindgren, David; Nilsson, Björn; Ritz, Cecilia; Edén, Patrik; Lassen, Carin; Råde, Johan; Fontes, Magnus; Mörse, Helena; Heldrup, Jesper; Behrendtz, Mikael; Mitelman, Felix; Höglund, Mattias; Johansson, Bertil; Fioretos, Thoas

    2005-12-27

    Global expression profiles of a consecutive series of 121 childhood acute leukemias (87 B lineage acute lymphoblastic leukemias, 11 T cell acute lymphoblastic leukemias, and 23 acute myeloid leukemias), six normal bone marrows, and 10 normal hematopoietic subpopulations of different lineages and maturations were ascertained by using 27K cDNA microarrays. Unsupervised analyses revealed segregation according to lineages and primary genetic changes, i.e., TCF3(E2A)/PBX1, IGH@/MYC, ETV6(TEL)/RUNX1(AML1), 11q23/MLL, and hyperdiploidy (>50 chromosomes). Supervised discriminatory analyses were used to identify differentially expressed genes correlating with lineage and primary genetic change. The gene-expression profiles of normal hematopoietic cells were also studied. By using principal component analyses (PCA), a differentiation axis was exposed, reflecting lineages and maturation stages of normal hematopoietic cells. By applying the three principal components obtained from PCA of the normal cells on the leukemic samples, similarities between malignant and normal cell lineages and maturations were investigated. Apart from showing that leukemias segregate according to lineage and genetic subtype, we provide an extensive study of the genes correlating with primary genetic changes. We also investigated the expression pattern of these genes in normal hematopoietic cells of different lineages and maturations, identifying genes preferentially expressed by the leukemic cells, suggesting an ectopic activation of a large number of genes, likely to reflect regulatory networks of pathogenetic importance that also may provide attractive targets for future directed therapies.

  3. Deregulated WNT signaling in childhood T-cell acute lymphoblastic leukemia

    International Nuclear Information System (INIS)

    Ng, O H; Erbilgin, Y; Firtina, S; Celkan, T; Karakas, Z; Aydogan, G; Turkkan, E; Yildirmak, Y; Timur, C; Zengin, E; Dongen, J J M van; Staal, F J T; Ozbek, U; Sayitoglu, M

    2014-01-01

    WNT signaling has been implicated in the regulation of hematopoietic stem cells and plays an important role during T-cell development in thymus. Here we investigated WNT pathway activation in childhood T-cell acute lymphoblastic leukemia (T-ALL) patients. To evaluate the potential role of WNT signaling in T-cell leukomogenesis, we performed expression analysis of key components of WNT pathway. More than 85% of the childhood T-ALL patients showed upregulated β-catenin expression at the protein level compared with normal human thymocytes. The impact of this upregulation was reflected in high expression of known target genes (AXIN2, c-MYC, TCF1 and LEF). Especially AXIN2, the universal target gene of WNT pathway, was upregulated at both mRNA and protein levels in ∼40% of the patients. When β-CATENIN gene was silenced by small interfering RNA, the cancer cells showed higher rates of apoptosis. These results demonstrate that abnormal WNT signaling activation occurs in a significant fraction of human T-ALL cases independent of known T-ALL risk factors. We conclude that deregulated WNT signaling is a novel oncogenic event in childhood T-ALL

  4. Late effects of treatment in survivors of childhood acute lymphoblastic leukaemia

    International Nuclear Information System (INIS)

    Roux, P.

    1987-01-01

    The overall aim of this study was a comprehensive assessment of the nature and severity of the late effects of treatment in a group of children surviving acute lymphoblastic leukaemia. In the absence of damage preceding treatment, late effects could be ascribed to treatment. Cranial irradiation, methotrexate, L-asparaginase and cytosine arabinoside are therapeutic modalities most likely to cause injury to the central nervous system. Survivors of childhood leukaemia also showed an increase in weight-for-height during and after therapy which appeared to be the consequence of a loss in statural growth as well as increasing weight-for-age. Assessment of endocrine function in leukaemia survivors indicated abnormalities in the regulation of growth hormone and thyroid stimulating hormone in some patients. Survivors of childhood leukaemia were shown to have an intellectual deficit compared with their siblings and a high incidence of visual-perceptual defects. The intellectual effects of lower doses of cranial irradiation are as yet unknown. A variety of minor neurological abnormalities were detected among leukaemia survivors and thought to be related to preceding central nervous system 'prophylactic' chemotherapy and irradiation. A new instrument, the functional deficit score, was derived to reflect overall outcome in survivors of childhood leukaemia. With few exceptions, leukaemia survivors in this study had received 2400 rads of deep x-ray therapy as cranial irradiation. This dosage has since been reduced world-wide. Current cranial irradiation 'prophylaxis' consists of 1800 rad of megavoltage radiotherapy

  5. Late effects of treatment in survivors of childhood acute lymphoblastic leukaemia

    Energy Technology Data Exchange (ETDEWEB)

    Roux, P

    1987-01-01

    The overall aim of this study was a comprehensive assessment of the nature and severity of the late effects of treatment in a group of children surviving acute lymphoblastic leukaemia. In the absence of damage preceding treatment, late effects could be ascribed to treatment. Cranial irradiation, methotrexate, L-asparaginase and cytosine arabinoside are therapeutic modalities most likely to cause injury to the central nervous system. Survivors of childhood leukaemia also showed an increase in weight-for-height during and after therapy which appeared to be the consequence of a loss in statural growth as well as increasing weight-for-age. Assessment of endocrine function in leukaemia survivors indicated abnormalities in the regulation of growth hormone and thyroid stimulating hormone in some patients. Survivors of childhood leukaemia were shown to have an intellectual deficit compared with their siblings and a high incidence of visual-perceptual defects. The intellectual effects of lower doses of cranial irradiation are as yet unknown. A variety of minor neurological abnormalities were detected among leukaemia survivors and thought to be related to preceding central nervous system 'prophylactic' chemotherapy and irradiation. A new instrument, the functional deficit score, was derived to reflect overall outcome in survivors of childhood leukaemia. With few exceptions, leukaemia survivors in this study had received 2400 rads of deep x-ray therapy as cranial irradiation. This dosage has since been reduced world-wide. Current cranial irradiation 'prophylaxis' consists of 1800 rad of megavoltage radiotherapy.

  6. Using adaptive model predictive control to customize maintenance therapy chemotherapeutic dosing for childhood acute lymphoblastic leukemia.

    Science.gov (United States)

    Noble, Sarah L; Sherer, Eric; Hannemann, Robert E; Ramkrishna, Doraiswami; Vik, Terry; Rundell, Ann E

    2010-06-07

    Acute lymphoblastic leukemia (ALL) is a common childhood cancer in which nearly one-quarter of patients experience a disease relapse. However, it has been shown that individualizing therapy for childhood ALL patients by adjusting doses based on the blood concentration of active drug metabolite could significantly improve treatment outcome. An adaptive model predictive control (MPC) strategy is presented in which maintenance therapy for childhood ALL is personalized using routine patient measurements of red blood cell mean corpuscular volume as a surrogate for the active drug metabolite concentration. A clinically relevant mathematical model is developed and used to describe the patient response to the chemotherapeutic drug 6-mercaptopurine, with some model parameters being patient-specific. During the course of treatment, the patient-specific parameters are adaptively identified using recurrent complete blood count measurements, which sufficiently constrain the patient parameter uncertainty to support customized adjustments of the drug dose. While this work represents only a first step toward a quantitative tool for clinical use, the simulated treatment results indicate that the proposed mathematical model and adaptive MPC approach could serve as valuable resources to the oncologist toward creating a personalized treatment strategy that is both safe and effective. Copyright (c) 2010 Elsevier Ltd. All rights reserved.

  7. [Effects of birth order, maternal abortion and mode of delivery on childhood acute leukemia risk: a meta-analysis].

    Science.gov (United States)

    Zou, Guobin; Sha, Xia

    2014-03-01

    To evaluate the associations between birth order, maternal abortion and mode of delivery and childhood acute leukemia risk. Multiple electronic databases were searched to identify relevant studies up to March 2013 using the search terms "childhood leukemia", "acute lymphoblastic leukemia", "acute myeloid leukemia","birth order", "abortion", "miscarriage", "cesarean", "birth characteristics" and "prenatal risk factor". Data from cohort and case-control studies were analyzed using the Stata software. Twenty-three studies were included in this meta-analysis according to the selection criteria. No significant associations were identified for birth order and mode of delivery (birth order = 2: OR = 0.97, 95%CI: 0.89-1.05; birth order = 3: OR = 1.00, 95%CI: 0.91-1.11; birth order ≥ 4: OR = 1.02, 95%CI: 0.87-1.20; mode of delivery: OR = 1.05, 95%CI: 0.96-1.15). However, there was a significant association between maternal abortion and childhood acute leukemia risk (spontaneous abortion: OR = 1.21, 95%CI: 1.05-1.41; induced abortion: OR = 1.23, 95%CI: 1.07-1.43). Furthermore, the stratified analysis by disease subtypes showed that spontaneous and induced abortions were significantly associated with the risks of childhood acute myeloid leukemia (OR = 1.71, 95%CI: 1.09-2.70) and acute lymphoblastic leukemia (OR = 1.23, 95%CI: 1.05-1.42), respectively. This meta-analysis revealed that maternal abortion might contribute to the childhood acute leukemia risk.

  8. Myositis is meer dan een spierziekte

    NARCIS (Netherlands)

    Lim, J.; van Royen-Kerkhof, A.; Jonkers, R. E.; Starink, M. V.; Voskuyl, A. E.; van der Kooi, A. J.

    2018-01-01

    Idiopathic inflammatory myopathy (IIM), commonly referred to as "myositis", is a rare but treatable auto-immune disease that is often misdiagnosed or diagnosed after significant delay. Using three clinical case reports as introductory examples, an overview is given - and pitfalls are discussed - of

  9. Periostitis and localised myositis in polyarteritis nodosa

    International Nuclear Information System (INIS)

    Macdonald, W.B.G.; Blake, M.P.

    2003-01-01

    Full text: A 20-year-old man with previously diagnosed polyarteritis nodosa was referred for a bone scan to investigate longstanding knee and lower leg pain. The patient's symptoms worsened with any reduction of steroid dose and his physician was concerned about avascular necrosis of the hips. Plain x-rays of the lower limbs were normal. The blood pool images showed bilaterally increased activity in the anterior muscle compartments of the lower legs, suggestive of localised myositis. Three-hour delayed images showed widespread, increased subperiosteal activity with no evidence of avascular necrosis. Subsequent MRI scanning showed patchy muscle enhancement in both lower legs, also typical of myositis. A muscle biopsy was performed which demonstrated features of both myositis and vasculitis. The patient remains dependent on high-dose steroids for symptom relief. Localised myositis has previously been reported in polyarteritis nodosa and is a recognised, albeit rare, complication of the disorder, the basis of which is not well understood. Diagnostic muscle biopsy should be directed at involved muscle groups, which are best detected with MRI. Lower limb periostitis is well described in polyarteritis nodosa and may result in gross deformity. Several cases have previously been reported in the literature based on radiographic abnormalities, which were not present in our patient. Bone scanning demonstrated the sub-periosteal activity well in our subject and is suggested as a useful investigation in patients with polyarteritis nodosa who complain of lower limb pain. Copyright (2003) The Australian and New Zealand Society of Nuclear Medicine Inc

  10. Nontraumatic myositis ossificans in the breast

    International Nuclear Information System (INIS)

    Salomonowitz, Erich; Youssefzadeh, Soraya; Reiner, Angelika; Heilbron, E.A.; Zollikofer, C.L.

    1991-01-01

    The authors report the 1st case of a healthy female who developed a rapidly growing mass in her left breast which proved to be a non-progressive form of myositis ossificans originating in fat tissue. This rare entitity may be important to radiologists because the clinical symptoms are suspicious of a malignancy. (author). 5 refs.; 3 figs

  11. Myositis ossificans with Ga-67 citrate positivity

    International Nuclear Information System (INIS)

    Moreno, A.J.; Yedinak, M.A.; Spicer, M.J.; Turnbull, G.L.; Byrd, B.F.; Brown, T.J.

    1985-01-01

    A 16 year-old boy presented with a firm mass within the left thigh. Ga-67 citrate and bone scintigraphy revealed soft tissue radiotracer accumulation within the mass lesion. Radiographs and xerography of the left thigh revealed calcification within the soft tissue mass typical of myositis ossificans. The patient's clinical course was uneventful

  12. Long-term hearing outcomes after recurrent acute otitis media during early childhood.

    Science.gov (United States)

    Krakau, Mattias; Dagöö, Britta Rynnel; Hellström, Sten; Granath, Anna

    2017-12-01

    To survey long-term hearing outcomes and middle ear pathology in a 30-year follow-up in individuals with onset of recurrent acute otitis media (rAOM) before three years of age. 28 adults, aged 30.1-31.8 years, who originally - at the age of 12-32 months - participated in a study on rAOM between 1979 and 1983, were re-examined regarding self-reported ear problems, current tympanic membrane changes and audiology. Thirteen subjects had suffered from rAOM during early childhood and 15 subjects served as a control group. Recurrent acute otitis media subjects reported hearing problems comparable to those of the controls. Pure tone audiometry, at 125-8000 Hz, did not differ between groups. The rAOM group had a trend for impaired high-frequency (9000-14,000 Hz) threshold levels (9000-14,000 Hz); implying that their cochlear function seemed to have deteriorated. Adults, who suffered from recurrent acute otitis media as infants, did not show any clinically significant hearing loss for pure tone audiometry when compared to controls, but there was a trend for impaired results regarding extended high frequency audiometry (9-14 kHz). Children suffering from rAOM will be at low risk of developing hearing loss and severe middle ear disease.

  13. Impact of Childhood Nutritional Status on Pathogen Prevalence and Severity of Acute Diarrhea.

    Science.gov (United States)

    Tickell, Kirkby D; Pavlinac, Patricia B; John-Stewart, Grace C; Denno, Donna M; Richardson, Barbra A; Naulikha, Jaqueline M; Kirera, Ronald K; Swierczewski, Brett E; Singa, Benson O; Walson, Judd L

    2017-11-01

    Children with acute and chronic malnutrition are at increased risk of morbidity and mortality following a diarrheal episode. To compare diarrheal disease severity and pathogen prevalence among children with and without acute and chronic malnutrition, we conducted a cross-sectional study of human immunodeficiency virus-uninfected Kenyan children aged 6-59 months, who presented with acute diarrhea. Children underwent clinical and anthropometric assessments and provided stool for bacterial and protozoal pathogen detection. Clinical and microbiological features were compared using log binomial regression among children with and without wasting (mid-upper arm circumference ≤ 125 mm) or stunting (height-for-age z score ≤ -2). Among 1,363 children, 7.0% were wasted and 16.9% were stunted. After adjustment for potential confounders, children with wasting were more likely than nonwasted children to present with at least one Integrated Management of Childhood Illness danger sign (adjusted prevalence ratio [aPR]: 1.3, 95% confidence interval [CI]: 1.0 to 1.5, P = 0.05), severe dehydration (aPR: 2.4, 95% CI: 1.5 to 3.8, P malnutrition which may be explained by a delay in care-seeking or diminished immune response to infection. Combating social determinants and host risk factors associated with severe disease, rather than specific pathogens, may reduce the disparities in poor diarrhea-associated outcomes experienced by malnourished children.

  14. Value of MRI in diagnostics and evaluation of myositis.

    Science.gov (United States)

    Pipitone, Nicolò

    2016-11-01

    This review aims at covering the role of muscle MRI in supporting the diagnosis of myositis, in aiding to differentiate it from other muscle disorders, and in monitoring myositis patients over time by assessing response to treatment and by discriminating between muscle inflammation and chronic damage. MRI can assist in 'pattern recognition' of muscle involvement across numerous myopathies, including myositis. Novel applications of magnetic resonance such as cardiac MRI, MR elastography and blood oxigenation level-dependent magnetic resonance can shed light on different aspects of myositis and usefully complement conventional MRI in assessing patients with myositis. MRI can guide therapy by determining whether muscle weakness is related to edema (active inflammation) or muscle atrophy/fat replacement (chronic damage). There is a need to better standardize the assessment of MRI findings in myositis to provide defined outcome measures for use in clinical trials. VIDEO ABSTRACT.

  15. Contextual factors associated with health care service utilization for children with acute childhood illnesses in Nigeria.

    Directory of Open Access Journals (Sweden)

    Sulaimon T Adedokun

    Full Text Available To examine the independent contribution of individual, community and state-level factors to health care service utilization for children with acute childhood illnesses in Nigeria.The study was based on secondary analyses of cross-sectional population-based data from the 2013 Nigeria Demographic and Health Survey (DHS. Multilevel logistic regression models were applied to the data on 6,427 under-five children who used or did not use health care service when they were sick (level 1, nested within 896 communities (level 2 from 37 states (level 3.About one-quarter of the mothers were between 15 and 24 years old and almost half of them did not have formal education (47%. While only 30% of the children utilized health service when they were sick, close to 67% lived in the rural area. In the fully adjusted model, mothers with higher education attainment (Adjusted odds ratio [aOR] = 1.63; 95% credible interval [CrI] = 1.31-2.03, from rich households (aOR = 1.76; 95% CrI = 1.35-2.25, with access to media (radio, television or magazine (aOR = 1.18; 95% CrI = 1.08-1.29, and engaging in employment (aOR = 1.18; 95% CrI = 1.02-1.37 were significantly more likely to have used healthcare services for acute childhood illnesses. On the other hand, women who experienced difficulty getting to health facilities (aOR = 0.87; 95% CrI = 0.75-0.99 were less likely to have used health service for their children.Our findings highlight that utilization of healthcare service for acute childhood illnesses was influenced by not only maternal factors but also community-level factors, suggesting that public health strategies should recognise this complex web of individual composition and contextual composition factors to guide provision of healthcare services. Such interventions could include: increase in female school enrolment, provision of interest-free loans for small and medium scale enterprises, introduction of mobile clinics and establishment of more primary health care

  16. DNA incorporation of 6-thioguanine nucleotides during maintenance therapy of childhood acute lymphoblastic leukaemia and non-Hodgkin lymphoma

    DEFF Research Database (Denmark)

    Hedeland, Rikke L; Hvidt, Kristian; Nersting, Jacob

    2010-01-01

    To explore the DNA incorporation of 6-thioguanine nucleotide levels (DNA-6TGN) during 6-mercaptopurine (6MP) therapy of childhood acute lymphoblastic leukaemia (ALL) and non-Hodgkin lymphoma (NHL) and its relation to erythrocyte levels of their metabolites: 6-thioguanine-nucleotides (E-6TGN...

  17. Mercaptopurine metabolite levels are predictors of bone marrow toxicity following high-dose methotrexate therapy of childhood acute lymphoblastic leukaemia

    DEFF Research Database (Denmark)

    Vang, Sophia Ingeborg; Schmiegelow, Kjeld; Frandsen, Thomas

    2015-01-01

    High-dose methotrexate (HD-MTX) courses with concurrent oral low-dose MTX/6-mercaptopurine (6MP) for childhood acute lymphoblastic leukaemia (ALL) are often followed by neutro- and thrombocytopenia necessitating treatment interruptions. Plasma MTX during HD-MTX therapy guides folinic acid rescue ...

  18. Leukemic blasts are present at low levels in spinal fluid in one-third of childhood acute lymphoblastic leukemia cases

    DEFF Research Database (Denmark)

    Levinsen, Mette; Marquart, Hanne V; Groth-Pedersen, Line

    2016-01-01

    BACKGROUND: Central nervous system (CNS) involvement is associated with relapse in childhood acute lymphoblastic leukemia (ALL) and is a diagnostic challenge. PROCEDURE: In a Nordic/Baltic prospective study, we assessed centralized flow cytometry (FCM) of locally fixed cerebrospinal fluid (CSF......: 45 × 10(9) /l vs. 10 × 10(9) /l, P diagnosis remained so despite at least two doses...

  19. Polymorphisms in the ABCB1 gene and effect on outcome and toxicity in childhood acute lymphoblastic leukemia

    DEFF Research Database (Denmark)

    Gregers, J; Gréen, H; Christensen, I J

    2015-01-01

    The membrane transporter P-glycoprotein, encoded by the ABCB1 gene, influences the pharmacokinetics of anti-cancer drugs. We hypothesized that variants of ABCB1 affect outcome and toxicity in childhood acute lymphoblastic leukemia (ALL). We studied 522 Danish children with ALL, 93% of all those e...

  20. The impact of CYP3A5*3 on risk and prognosis in childhood acute lymphoblastic leukemia

    DEFF Research Database (Denmark)

    Borst, Louise; Wallerek, Sandra; Dalhoff, Kim

    2011-01-01

    Objectives: Acute lymphoblastic leukemia (ALL) is the most common cancer in childhood; however, little is known of the molecular etiology and environmental exposures causing the disease. Cytochrome P450 3A5 (CYP3A5) plays a crucial role in the catalytic oxidation of endogenous metabolites and toxic...

  1. The impact of CYP3A5*3 on risk and prognosis in childhood acute lymphoblastic leukemia

    DEFF Research Database (Denmark)

    Borst, Louise; Wallerek, Sandra; Dalhoff, Kim Peder

    2011-01-01

    Objectives:  Acute lymphoblastic leukemia (ALL) is the most common cancer in childhood; however, little is known of the molecular etiology and environmental exposures causing the disease. Cytochrome P450 3A5 (CYP3A5) plays a crucial role in the catalytic oxidation of endogenous metabolites...

  2. Myositis Ossificans of Psoas Muscle: Magnetic Resonance Imaging Findings

    Energy Technology Data Exchange (ETDEWEB)

    Sirvanci, M.; Ganiyusufoglu, A.K.; Karaman, K.; Tezer, M.; Hamzaoglu, A. [Univ. of Kadir Has, Istanbul (Turkey). Dept. of Radiology

    2004-08-01

    Myositis ossificans is a benign, localized, self-limiting ossifying soft tissue mass with unknown pathogenesis. It may be confused with a malignant tumor of bone or soft tissues, especially in the early stages of the disease. In this report, we present a case of myositis ossificans affecting unilateral psoas muscle, which to our knowledge is a very uncommon location. There was no history of trauma. We describe the imaging findings and clues to early diagnosis of myositis ossificans.

  3. Myositis Ossificans of Psoas Muscle: Magnetic Resonance Imaging Findings

    International Nuclear Information System (INIS)

    Sirvanci, M.; Ganiyusufoglu, A.K.; Karaman, K.; Tezer, M.; Hamzaoglu, A.

    2004-01-01

    Myositis ossificans is a benign, localized, self-limiting ossifying soft tissue mass with unknown pathogenesis. It may be confused with a malignant tumor of bone or soft tissues, especially in the early stages of the disease. In this report, we present a case of myositis ossificans affecting unilateral psoas muscle, which to our knowledge is a very uncommon location. There was no history of trauma. We describe the imaging findings and clues to early diagnosis of myositis ossificans

  4. MYOSITIS ASSOCIATED WITH MALIGNANT TUMORS

    Directory of Open Access Journals (Sweden)

    O. A. Antelava

    2016-01-01

    Full Text Available Idiopathic inflammatory myopathies (IIM are a heterogeneous group of acquired systemic diseases mainly involving skeletal muscles. The main representatives of IIM are polymyositis (PM and dermatomyositis (DM. Epidemiological surveys demonstrate that there is a relationship between PM/DM and malignant neoplasms (MNs, the detection risk of which is higher than that in the population of respective age groups. The rate of MNs in PM/DM ranges from 9 to 50%. The relationship to MNs is described in each subtype of IIM; however, these are most common in DM. The patients suffering from PM/DM associated with MNs have a worse prognosis than those without MNs. The early detection of MNs could improve the prognosis in these patients. The investigations published identify demographic, clinical, and laboratory factors increasing MN detection risks in patients with PM/DM. Just the same, they all cover small patient groups; the findings are heterogeneous and not well convincing, which calls for a further larger-scale study of this problem.Objective: to reveal and identify the specific features of paraneoplastic myositis (PnM.Subjects and methods. The investigation included 320 patients with a valid diagnosis of IIM, who had been followed up in the period of 1996 to 2016. The patients underwent laboratory tests, manual proximal muscle strength testing using a 10-point scale and electromyographic examination with needle electrodes.Results and discussion. PnM was detected in 32 (10% of the 320 patients with IIM. Among the patients with PnM, there were 6 (19% men and 26 (81% women. The mean age at the onset of PnM was 55.4 years. PnM manifested with characteristic musculocutaneous syndrome in 19 (59% patients; 18 (41% of them were found to have MNs within the first year after disease onset. The manifestation of MNs was preliminary to the picture of PM/DM in 13 (41% patients. The most commonly detected conditions were ovarian cancer (37.5%, MNs of the lung and breast

  5. Living on a farm, contact with farm animals and pets, and childhood acute lymphoblastic leukemia: pooled and meta-analyses from the Childhood Leukemia International Consortium.

    Science.gov (United States)

    Orsi, Laurent; Magnani, Corrado; Petridou, Eleni T; Dockerty, John D; Metayer, Catherine; Milne, Elizabeth; Bailey, Helen D; Dessypris, Nick; Kang, Alice Y; Wesseling, Catharina; Infante-Rivard, Claire; Wünsch-Filho, Victor; Mora, Ana M; Spector, Logan G; Clavel, Jacqueline

    2018-04-16

    The associations between childhood acute lymphoblastic leukemia (ALL) and several factors related to early stimulation of the immune system, that is, farm residence and regular contacts with farm animals (livestock, poultry) or pets in early childhood, were investigated using data from 13 case-control studies participating in the Childhood Leukemia International Consortium. The sample included 7847 ALL cases and 11,667 controls aged 1-14 years. In all studies, the data were obtained from case and control parents using standardized questionnaires. Pooled odds ratios (ORs) and 95% confidence intervals (CIs) were estimated by unconditional logistic regression adjusted for age, sex, study, maternal education, and maternal age. Contact with livestock in the first year of life was inversely associated with ALL (OR = 0.65, 95% CI: 0.50, 0.85). Inverse associations were also observed for contact with dogs (OR = 0.92, 95% CI: 0.86, 0.99) and cats (OR = 0.87, 95% CI: 0.80, 0.94) in the first year of life. There was no evidence of a significant association with farm residence in the first year of life. The findings of these large pooled and meta-analyses add additional evidence to the hypothesis that regular contact with animals in early childhood is inversely associated with childhood ALL occurrence which is consistent with Greaves' delayed infection hypothesis. © 2018 The Authors. Cancer Medicine published by John Wiley & Sons Ltd.

  6. Methotrexate resistance in relation to treatment outcome in childhood acute lymphoblastic leukemia

    DEFF Research Database (Denmark)

    Wojtuszkiewicz, Anna; Peters, Godefridus J; van Woerden, Nicole L

    2015-01-01

    BACKGROUND: Methotrexate (MTX) eradicates leukemic cells by disrupting de novo nucleotide biosynthesis and DNA replication, resulting in cell death. Since its introduction in 1947, MTX-containing chemotherapeutic regimens have proven instrumental in achieving curative effects in acute lymphoblast...... resistant to MTX at diagnosis may allow for tailoring novel treatment strategies to individual leukemia patients....... leukemia (ALL). However, drug resistance phenomena pose major obstacles to efficacious ALL chemotherapy. Moreover, clinically relevant molecular mechanisms underlying chemoresistance remain largely obscure. Several alterations in MTX metabolism, leading to impaired accumulation of this cytotoxic agent...... in tumor cells, have been classified as determinants of MTX resistance. However, the relation between MTX resistance and long-term clinical outcome of ALL has not been shown previously. METHODS: We have collected clinical data for 235 childhood ALL patients, for whom samples taken at the time of diagnosis...

  7. The importance of monitoring minimal residual disease in childhood acute lymphoblastic leukemia

    International Nuclear Information System (INIS)

    Kolenova, A.; Subova, Z.; Cizmar, A.; Sejnova, D.; Kaiserova, E.; Hikkel, I.; Hikkelova, M.; Bubanska, E.; Oravkinova, I.

    2012-01-01

    Since the strong correlation between minimal residual disease (MRD) levels and risk of relapse in childhood acute lymphoblastic leukemia, monitoring of MRD provides unique information regarding treatment response. Because the significance of MRD monitoring has been strongly supported by several studies and because it has been implemented in the latest protocols, there has been a significant effort to develop MRD monitoring in the Slovak Republic. Between 1. 10. 2006 and 31. 12. 2009, 50 children with ALL who were treated at three Slovak centers were included in the RQ PCR MRD pilot project. Based on MRD stratification, we identified 26 patients who were stratified into the HRG (high risk group) 3 patients (11,5 %), IRG (intermediate risk group), 14 p. 54 % and SRG (standard risk group), 9 p. (34,5 %). (author)

  8. Brain sarcoma of meningeal origin after cranial irradiation in childhood acute lymphocytic leukemia. Case report

    International Nuclear Information System (INIS)

    Tiberin, P.; Maor, E.; Zaizov, R.; Cohen, I.J.; Hirsch, M.; Yosefovich, T.; Ronen, J.; Goldstein, J.

    1984-01-01

    The authors report their experience with an unusual case of intracerebral sarcoma of meningeal cell origin in an 8 1/2-year-old girl. This tumor occurred 6 1/2 years after cranial irradiation at relatively low dosage (2200 rads) had been delivered to the head in the course of a multimodality treatment for acute lymphocytic leukemia. The tumor recurred approximately 10 months after the first surgical intervention. Macroscopic total excision of the recurrent growth followed by whole-brain irradiation (4500 rads) failed to eradicate it completely and local recurrence prompted reoperation 18 months later. This complication of treatment in long-term childhood leukemia survivors is briefly discussed, as well as the pathology of meningeal sarcomas

  9. Identification of germline susceptibility loci in ETV6-RUNX1-rearranged childhood acute lymphoblastic leukemia

    Science.gov (United States)

    Ellinghaus, E; Stanulla, M; Richter, G; Ellinghaus, D; te Kronnie, G; Cario, G; Cazzaniga, G; Horstmann, M; Panzer Grümayer, R; Cavé, H; Trka, J; Cinek, O; Teigler-Schlegel, A; ElSharawy, A; Häsler, R; Nebel, A; Meissner, B; Bartram, T; Lescai, F; Franceschi, C; Giordan, M; Nürnberg, P; Heinzow, B; Zimmermann, M; Schreiber, S; Schrappe, M; Franke, A

    2012-01-01

    Acute lymphoblastic leukemia (ALL) is a malignant disease of the white blood cells. The etiology of ALL is believed to be multifactorial and likely to involve an interplay of environmental and genetic variables. We performed a genome-wide association study of 355 750 single-nucleotide polymorphisms (SNPs) in 474 controls and 419 childhood ALL cases characterized by a t(12;21)(p13;q22) — the most common chromosomal translocation observed in childhood ALL — which leads to an ETV6–RUNX1 gene fusion. The eight most strongly associated SNPs were followed-up in 951 ETV6-RUNX1-positive cases and 3061 controls from Germany/Austria and Italy, respectively. We identified a novel, genome-wide significant risk locus at 3q28 (TP63, rs17505102, PCMH=8.94 × 10−9, OR=0.65). The separate analysis of the combined German/Austrian sample only, revealed additional genome-wide significant associations at 11q11 (OR8U8, rs1945213, P=9.14 × 10−11, OR=0.69) and 8p21.3 (near INTS10, rs920590, P=6.12 × 10−9, OR=1.36). These associations and another association at 11p11.2 (PTPRJ, rs3942852, P=4.95 × 10−7, OR=0.72) remained significant in the German/Austrian replication panel after correction for multiple testing. Our findings demonstrate that germline genetic variation can specifically contribute to the risk of ETV6–RUNX1-positive childhood ALL. The identification of TP63 and PTPRJ as susceptibility genes emphasize the role of the TP53 gene family and the importance of proteins regulating cellular processes in connection with tumorigenesis. PMID:22076464

  10. Exposure to professional pest control treatments and the risk of childhood acute lymphoblastic leukemia.

    Science.gov (United States)

    Bailey, Helen D; Armstrong, Bruce K; de Klerk, Nicholas H; Fritschi, Lin; Attia, John; Scott, Rodney J; Smibert, Elizabeth; Milne, Elizabeth

    2011-10-01

    Previous studies suggest that exposure to pesticides increases the risk of childhood acute lymphoblastic leukemia (ALL). The aim of this analysis was to investigate whether professional pest treatments in or around the home before birth or during childhood increased the risk of childhood ALL. Data from 388 cases and 870 frequency-matched controls were analyzed using unconditional logistic regression, adjusting for study matching variables and potential confounders, to calculate odds ratios (ORs). A meta-analysis of our findings with the published findings of previous studies was also conducted. The ORs for any professional pest control treatments were 1.19 (95% CI 0.83, 1.69) in the year before pregnancy, 1.30 (95% CI 0.86, 1.97) during pregnancy and 1.24 (95% CI 0.93, 1.65) for those done after the child's birth. The ORs for exposure after birth were highest when it occurred between the ages of two and three years. ORs were elevated for termite treatments before birth. ORs were higher for pre-B than T cell ALL and for t(12;21) (ETV6-Runx-1) than other cytogenetic sub-types. The pooled OR from a meta-analysis of our study with three previous studies of professional pest control treatments during pregnancy was 1.37 (95% CI 1.00, 1.88). Our results, and those of our meta-analysis, provide some evidence of a modestly increased risk of ALL for professional pest control treatments done during the index pregnancy and possibly in the child's early years. The analysis of pooled data from international collaborations may provide more certainty regarding these potentially important associations. Copyright © 2011 UICC.

  11. The association of folate pathway and DNA repair polymorphisms with susceptibility to childhood acute lymphoblastic leukemia.

    Science.gov (United States)

    Goričar, Katja; Erčulj, Nina; Faganel Kotnik, Barbara; Debeljak, Maruša; Hovnik, Tinka; Jazbec, Janez; Dolžan, Vita

    2015-05-15

    Genetic factors may play an important role in susceptibility to childhood acute lymphoblastic leukemia (ALL). The aim of our study was to evaluate the associations of genetic polymorphisms in folate pathway and DNA repair genes with susceptibility to ALL. In total, 121 children with ALL and 184 unrelated healthy controls of Slovenian origin were genotyped for 14 polymorphisms in seven genes of folate pathway, base excision repair and homologous recombination repair (TYMS, MTHFR, OGG1, XRCC1, NBN, RAD51, and XRCC3). In addition, the exon 6 of NBN was screened for the presence of mutations using denaturing high performance liquid chromatography. Twelve polymorphisms were in Hardy-Weinberg equilibrium in controls and their genotype frequencies were in agreement with those reported in other Caucasian populations. Among the investigated polymorphisms and mutations, NBN Glu185Gln significantly decreased susceptibility to B-cell ALL (p=0.037), while TYMS 3R allele decreased susceptibility to T-cell ALL (p=0.011). Moreover, significantly decreased susceptibility to ALL was observed for MTHFR TA (p=0.030) and RAD51 GTT haplotypes (p=0.016). Susceptibility to ALL increased with the increasing number of risk alleles (ptrend=0.007). We also observed significant influence of hOGG-RAD51 and NBN-RAD51 interactions on susceptibility to ALL. Our results suggest that combination of several polymorphisms in DNA repair and folate pathways may significantly affect susceptibility to childhood ALL. Copyright © 2015 Elsevier B.V. All rights reserved.

  12. Health-related quality of life assessment in Indonesian childhood acute lymphoblastic leukemia

    Directory of Open Access Journals (Sweden)

    Sutaryo

    2008-11-01

    Full Text Available Abstract Background Most studies on Health-related Quality of Life (HRQOL in children with cancer were conducted in developed countries. The aims of this study were to assess the HRQOL in childhood acute lymphoblastic leukemia (ALL patients in Indonesia and to assess the influence of demographic and medical characteristics on HRQOL. Methods After cultural linguistic validation, a cross-sectional study of HRQOL was conducted with childhood ALL patients and their guardians in various phases of treatment using the Pediatric Quality of Life Inventory™ (PedsQL™ 4.0 Generic Core Scale and the Pediatric Quality of Life Inventory™ (PedsQL™ 3.0 Cancer Module. Results Ninety-eight guardians and 55 patients participated. The internal consistency of both scales ranged from 0.57 to 0.92. HRQOL of Indonesian patients was comparable with those in developed countries. There were moderate to good correlations between self-reports and proxy-reports, however guardians tended to report worse HRQOL than patients. Children of the 2–5 year-group significantly had more problems in procedural anxiety, treatment anxiety and communication subscales than in older groups (p Conclusion Younger children had more problems in procedural anxiety, treatment anxiety and communication subscales. Therefore, special care during intervention procedures is needed to promote their normal development. Psychosocial support should be provided to children and their parents to facilitate their coping with disease and its treatment.

  13. Parental Perceptions of Obesity and Obesity Risk Associated With Childhood Acute Lymphoblastic Leukemia.

    Science.gov (United States)

    Jones, Gary L; McClellan, Wendy; Raman, Sripriya; Sherman, Ashley; Guest, Erin; August, Keith

    2017-07-01

    The prevalence of obesity and related comorbidities in survivors of childhood acute lymphoblastic leukemia (ALL) is well established and ranges anywhere from 29% to 69% depending on the study. We sought to explore the awareness of parents of survivors of childhood ALL regarding the increased risk of obesity and their perceptions regarding the overall health of their child. One hundred twenty-one parents of 99 survivors of pediatric ALL completed surveys regarding perceptions of obesity risk in survivors. Eighty percent of parents of overweight and obese survivors correctly identified their child as "a little overweight" or "overweight." Few parents recalled discussing weight gain (21%) or obesity risk (36%) with their practitioner. Parents that did recall having these discussions and/or reported a decreased level of posttherapy activity in their child were more likely to be concerned about their child's weight status. Improved awareness and education regarding the risk of obesity and associated comorbid conditions may provide an avenue for future prevention of obesity in survivors of pediatric ALL. Discussion and education regarding a healthy lifestyle, including proper diet and exercise, should be incorporated early in routine patient visits.

  14. Childhood acute non-traumatic coma: aetiology and challenges in management in resource-poor countries of Africa and Asia.

    Science.gov (United States)

    Gwer, Samson; Chacha, Clifford; Newton, Charles R; Idro, Richard

    2013-08-01

    This review examines the best available evidence on the aetiology of childhood acute non-traumatic coma in resource-poor countries (RPCs), discusses the challenges associated with management, and explores strategies to address them. Publications in English and French which reported on studies on the aetiology of childhood non-traumatic coma in RPCs are reviewed. Primarily, the MEDLINE database was searched using the keywords coma, unconsciousness, causality, aetiology, child, malaria cerebral, meningitis, encephalitis, Africa, Asia, and developing countries. 14 records were identified for inclusion in the review. Cerebral malaria (CM) was the commonest cause of childhood coma in most of the studies conducted in Africa. Acute bacterial meningitis (ABM) was the second most common known cause of coma in seven of the African studies. Of the studies in Asia, encephalitides were the commonest cause of coma in two studies in India, and ABM was the commonest cause of coma in Pakistan. Streptococcus pneumoniae was the most commonly isolated organism in ABM. Japanese encephalitis, dengue fever and enteroviruses were the viral agents most commonly isolated. Accurate diagnosis of the aetiology of childhood coma in RPCs is complicated by overlap in clinical presentation, limited diagnostic resources, disease endemicity and co-morbidity. For improved outcomes, studies are needed to further elucidate the aetiology of childhood coma in RPCs, explore simple and practical diagnostic tools, and investigate the most appropriate specific and supportive interventions to manage and prevent infectious encephalopathies.

  15. Extraskeletal osteosarcoma arising in myositis ossificans

    Energy Technology Data Exchange (ETDEWEB)

    Konishi, Eiichi [Div. of Anatomic Pathology, Kyoto Prefectural University of Medicine (Japan); Kusuzaki, Katsuyuki; Murata, Hiroaki [Dept. of Orthopedic Surgery, Kyoto Prefectural University of Medicine (Japan); Tsuchihashi, Yasunari [Hospital Department of Pathology, Kyoto Prefectural University of Medicine (Japan); Beabout, J.W. [Dept. of Diagnostic Radiology, Mayo Clinic and Mayo Foundation, Rochester, MN (United States); Unni, K.K. [Division of Anatomic Pathology, Mayo Clinic and Mayo Foundation, Rochester, MN 55905 (United States); Mayo Clinic, 200 First Street SW, Rochester, MN 55905 (United States)

    2001-01-01

    A 53-year-old woman had extraskeletal osteosarcoma that developed from a soft tissue bony mass present on the volar aspect of the left wrist for 4 years. Initially, the bony mass was soft and movable, but during the first year it became hard and fixed. The patient had no history of trauma. Because the lesion did not grow or cause any symptoms, the patient did not come to the hospital until 4 years after she first noticed the lesion. Radiologically, the bony mass had features characteristic of mature myositis ossificans, showing ''eggshell'' ossification. A nonmineralized soft tissue mass occurred between the surface of the radius and the bony shell. Histologically, a high-grade osteosarcoma was present between the surface of the radius and the well-differentiated bone tissue, which included fatty and hematopoietic marrow. All the findings indicated that our patient had an extremely rare case of malignant transformation of myositis ossificans. (orig.)

  16. Extraskeletal osteosarcoma arising in myositis ossificans

    International Nuclear Information System (INIS)

    Konishi, Eiichi; Kusuzaki, Katsuyuki; Murata, Hiroaki; Tsuchihashi, Yasunari; Beabout, J.W.; Unni, K.K.

    2001-01-01

    A 53-year-old woman had extraskeletal osteosarcoma that developed from a soft tissue bony mass present on the volar aspect of the left wrist for 4 years. Initially, the bony mass was soft and movable, but during the first year it became hard and fixed. The patient had no history of trauma. Because the lesion did not grow or cause any symptoms, the patient did not come to the hospital until 4 years after she first noticed the lesion. Radiologically, the bony mass had features characteristic of mature myositis ossificans, showing ''eggshell'' ossification. A nonmineralized soft tissue mass occurred between the surface of the radius and the bony shell. Histologically, a high-grade osteosarcoma was present between the surface of the radius and the well-differentiated bone tissue, which included fatty and hematopoietic marrow. All the findings indicated that our patient had an extremely rare case of malignant transformation of myositis ossificans. (orig.)

  17. Acute traumatic subdural hematoma in infancy and childhood classification and treatment from CT findings

    Energy Technology Data Exchange (ETDEWEB)

    Mochimatsu, Yasuhiko

    1988-11-01

    Acute traumatic subdural hematoma in infancy and childhood has much difference from that in adult on their symptom, clinical course, and indication of surgical treatment. The aim of this study is to examine their clinical course and CT findings just after the injury and to evaluate the treatment modality for types of complex this disease. As the result of these examination, SDH patients are divided into five categories in account of their CT findings, especially according to the relationship between the hemispheric swelling and the amount of SDH. Simple SDH type shows classical clinical course and surgical treatment are frequently essential in rapidly progressive cases. Isodensity hemispheric swelling (IHS) type is more frequently seen in CT findings which shows thin SDH and prominent brain swelling. This IHS (a subtype of diffuse brain injury) type should be recognized for their favourable outcome under conservative treatment. Other three types are; contusion with SDH, acute excerbation of chronic SDH, and battered child. Indication of surgical treatment will be decided considering to the volume of hematomas. (author).

  18. Acute traumatic subdural hematoma in infancy and childhood classification and treatment from CT findings

    International Nuclear Information System (INIS)

    Mochimatsu, Yasuhiko

    1988-01-01

    Acute traumatic subdural hematoma in infancy and childhood has much difference from that in adult on their symptom, clinical course, and indication of surgical treatment. The aim of this study is to examine their clinical course and CT findings just after the injury and to evaluate the treatment modality for types of complex this disease. As the result of these examination, SDH patients are divided into five categories in account of their CT findings, especially according to the relationship between the hemispheric swelling and the amount of SDH. Simple SDH type shows classical clinical course and surgical treatment are frequently essential in rapidly progressive cases. Isodensity hemispheric swelling (IHS) type is more frequently seen in CT findings which shows thin SDH and prominent brain swelling. This IHS (a subtype of diffuse brain injury) type should be recognized for their favourable outcome under conservative treatment. Other three types are; contusion with SDH, acute excerbation of chronic SDH, and battered child. Indication of surgical treatment will be decided considering to the volume of hematomas. (author)

  19. [Spontaneous bile duct perforation: a rare cause of acute abdominal pain during childhood].

    Science.gov (United States)

    Ozdemir, Tunç; Akgül, Ahsen Karagözlü; Arpaz, Yağmur; Arikan, Ahmet

    2008-07-01

    Spontaneous perforation of the bile duct (SPBD) is a rare cause of acute abdominal pain during childhood. Pancreatico-biliary malfunction has been postulated to contribute to its etiology. Factors related to diagnosis and treatment and difference from the other common causes of acute abdominal pain are emphasized. Five patients (3 boys, 2 girls, mean age 4.6) were admitted with peritonitis and operated with initial diagnosis of perforated appendicitis. During laparotomy, SPBD was detected. Presentation, laboratory findings and operative technique of the patients were evaluated retrospectively. Common complaints were abdominal pain and bilious vomiting. Abdominal distention was present in all patients. Leukocytosis and mild hyperbilirubinemia were detected in 5, elevated serum transaminase levels in 4, hyperglycemia in 1 and constipation in 1 patient(s). Abdominal ultrasonography showed a large amount of free fluid. During laparotomy, sterile bile peritonitis was detected initially. After exploration, SPBD was seen. T-tube drainage of the bile duct was carried out. Patients were discharged after removal of the T-tubes. Pancreatico-biliary malfunction was detected in 4 of 5 patients. In patients with generalized peritonitis, elevated transaminase levels and hyperbilirubinemia, SPBD must be considered. Even though the T-tube drainage is the treatment of choice, Roux-en-Y hepatico-portoenterostomy may be mandatory in certain patients.

  20. Proliferative myositis in a patient with AIDS

    Energy Technology Data Exchange (ETDEWEB)

    Wlachovska, B.; Deux, J.F.; Marsault, C.; Le Breton, C. [Department of Radiology, Hopital Tenon, 4 rue de la Chine, 75020, Paris (France); Abraham, B. [Department of Tropical and Infectious Diseases, Hopital Tenon, Paris (France); Sibony, M. [Department of Anatomy, Hopital Tenon, Paris (France)

    2004-04-01

    We report a case of proliferative myositis in the right biceps of a 56-year-old man with acquired immune deficiency syndrome (AIDS). Imaging methods included sonography, computed tomography and magnetic resonance imaging. The diagnosis was made by a core-cut biopsy and fine needle aspiration biopsy with immunohistochemical analysis. The lesion disappeared after 2 months without treatment. It is particularly important to determine whether intramuscular masses arising in patients with AIDS are due to an infectious or malignant process. (orig.)

  1. Dermatomyositis Sine Myositis with Membranoproliferative Glomerulonephritis

    Directory of Open Access Journals (Sweden)

    Mohammad Bagher Owlia

    2012-01-01

    Full Text Available Dermatomyositis (DM is an autoimmune disease that is characterized by involvement of proximal musculature and skin. We report a 52-year-old woman with a 6-year history of dermatomyositis sine myositis, who developed lower extremity edema and proteinuria. Pathological examination of renal biopsy showed membranoproliferative glomerulonephritis. She received steroid, cyclophosphamide, and mycophenolate mofetil. Over the 9 to 10 months after the beginning of treatment, the proteinuria was improved.

  2. Proliferative myositis in a patient with AIDS

    International Nuclear Information System (INIS)

    Wlachovska, B.; Deux, J.F.; Marsault, C.; Le Breton, C.; Abraham, B.; Sibony, M.

    2004-01-01

    We report a case of proliferative myositis in the right biceps of a 56-year-old man with acquired immune deficiency syndrome (AIDS). Imaging methods included sonography, computed tomography and magnetic resonance imaging. The diagnosis was made by a core-cut biopsy and fine needle aspiration biopsy with immunohistochemical analysis. The lesion disappeared after 2 months without treatment. It is particularly important to determine whether intramuscular masses arising in patients with AIDS are due to an infectious or malignant process. (orig.)

  3. Fungal myositis in children: serial ultrasonographic findings

    Energy Technology Data Exchange (ETDEWEB)

    Kwon, Jung Hwa; Lee, Hee Jung; Choi, Jin Soo [Keimyung University School of Medicine, Daegu (Korea, Republic of)

    2003-08-01

    To evaluate serial ultrasonographic findings of fungal myositis in children. Eleven lesions caused by fungal myositis and occurring in six children were included in this study. Eight lesions in five children were histopathologically proven and the other three were clinically diagnosed. Serial ultrasonographic findings were retrospectively evaluated in terms of size, location, margin, internal echotexture and adjacent cortical change occurring during the follow-up period ranging from five days to two months. Three patients (50%) had multiple lesions. The sites of involvment were the thigh (n=4), calf (n=3), chest wall (n=2), abdominal wall (n=1) and forearm (n=1). Initially, diffuse muscular swelling was revealed, with ill-defined hypoechoic lesions confined to the muscle layer (n=8). Follow-up examination of eight lesions over a period of 5-10 days showed that round central echogenic lesions were surrounded by previous slightly echogenic lesions (n=6, 75%). Long-term follow-up of five lesions over a two-month period revealed periosteal thickening in one case (20%), and the peristence of echogenic solid nodules in four (80%). Pathologic examination showed that the central lesions correlated with a fungus ball and the peripheral slightly echogenic lesions corresponded to hematoma and necrosis. Serial ultrasonographic findings of fungal myositis in children revealed relatively constant features in each case. In particular, the findings of muscular necrosis and a fungus ball over a period of 5-14 days were thought to be characteristic.

  4. Fungal myositis in children: serial ultrasonographic findings

    International Nuclear Information System (INIS)

    Kwon, Jung Hwa; Lee, Hee Jung; Choi, Jin Soo

    2003-01-01

    To evaluate serial ultrasonographic findings of fungal myositis in children. Eleven lesions caused by fungal myositis and occurring in six children were included in this study. Eight lesions in five children were histopathologically proven and the other three were clinically diagnosed. Serial ultrasonographic findings were retrospectively evaluated in terms of size, location, margin, internal echotexture and adjacent cortical change occurring during the follow-up period ranging from five days to two months. Three patients (50%) had multiple lesions. The sites of involvment were the thigh (n=4), calf (n=3), chest wall (n=2), abdominal wall (n=1) and forearm (n=1). Initially, diffuse muscular swelling was revealed, with ill-defined hypoechoic lesions confined to the muscle layer (n=8). Follow-up examination of eight lesions over a period of 5-10 days showed that round central echogenic lesions were surrounded by previous slightly echogenic lesions (n=6, 75%). Long-term follow-up of five lesions over a two-month period revealed periosteal thickening in one case (20%), and the peristence of echogenic solid nodules in four (80%). Pathologic examination showed that the central lesions correlated with a fungus ball and the peripheral slightly echogenic lesions corresponded to hematoma and necrosis. Serial ultrasonographic findings of fungal myositis in children revealed relatively constant features in each case. In particular, the findings of muscular necrosis and a fungus ball over a period of 5-14 days were thought to be characteristic

  5. Altered brain function in new onset childhood acute lymphoblastic leukemia before chemotherapy: A resting-state fMRI study.

    Science.gov (United States)

    Hu, Zhanqi; Zou, Dongfang; Mai, Huirong; Yuan, Xiuli; Wang, Lihong; Li, Yue; Liao, Jianxiang; Liu, Liwei; Liu, Guosheng; Zeng, Hongwu; Wen, Feiqiu

    2017-10-01

    Cognitive impairments had been reported in childhood acute lymphoblastic leukemia, what caused the impairments needed to be demonstrated, chemotherapy-related or the disease itself. The primary aim of this exploratory investigation was to determine if there were changes in brain function of children with acute lymphoblastic leukemia before chemotherapy. In this study, we advanced a measure named regional homogeneity to evaluate the resting-state brain activities, intelligence quotient test was performed at same time. Using regional homogeneity, we first investigated the resting state brain function in patients with new onset childhood acute lymphoblastic leukemia before chemotherapy, healthy children as control. The decreased ReHo values were mainly founded in the default mode network and left frontal lobe, bilateral inferior parietal lobule, bilateral temporal lobe, bilateral occipital lobe, precentral gyrus, bilateral cerebellum in the newly diagnosed acute lymphoblastic leukemia patients compared with the healthy control. While in contrast, increased ReHo values were mainly shown in the right frontal lobe (language area), superior frontal gyrus-R, middle frontal gyrus-R and inferior parietal lobule-R for acute lymphoblastic leukemia patients group. There were no significant differences for intelligence quotient measurements between the acute lymphoblastic leukemia patient group and the healthy control in performance intelligence quotient, verbal intelligence quotient, total intelligence quotient. The altered brain functions are associated with cognitive change and language, it is suggested that there may be cognition impairment before the chemotherapy. Regional homogeneity by functional magnetic resonance image is a sensitive way for early detection on brain damage in childhood acute lymphoblastic leukemia. Copyright © 2017 The Japanese Society of Child Neurology. Published by Elsevier B.V. All rights reserved.

  6. Influence of socioeconomic status on childhood acute lymphoblastic leukemia treatment in Indonesia.

    Science.gov (United States)

    Mostert, Saskia; Sitaresmi, Mei N; Gundy, Chad M; Sutaryo; Veerman, Anjo J P

    2006-12-01

    A major reason for poor survival of childhood acute lymphoblastic leukemia in developing countries is treatment refusal or abandonment. This can be associated with parental socioeconomic status and attitudes of health care providers. Our study examined the influence of 2 socioeconomic status determinants, parental income and education, on treatment in an Indonesian academic hospital. Medical charts of 164 patients who received a diagnosis of acute lymphoblastic leukemia between 1997 and 2002 were abstracted retrospectively. Data on treatment results and parental financial and educational background were collected. Open interviews were conducted with parents and health care providers. Of all patients, 35% refused or abandoned treatment, 23% experienced treatment-related death, 22% had progressive or relapsed leukemia, and 20% had an overall event-free survival. Treatment results differed significantly between patients with different socioeconomic status; 47% of poor and 2% of prosperous patients refused or abandoned treatment. Although poor and prosperous patients used the same protocol, the provided treatment differed. Poor patients received less individualized attention from oncologists and less structured parental education. Strong social hierarchical structures hindered communication with doctors, resulting in a lack of parental understanding of the necessity to continue treatment. Most poor patients could not afford treatment. Access to donated chemotherapy also was inadequate. Treatment refusal or abandonment frequently resulted. There was no follow-up system to detect and contact dropouts. Health care providers were not fully aware that their own attitude and communication skills were important for ensuring compliance of patients and parents. Children's survival of acute lymphoblastic leukemia in developing countries could improve if problems that are associated with parental financial and educational background and medical teams' attitudes to treatment and

  7. Diagnosis, pathogenesis and treatment of myositis: recent advances.

    Science.gov (United States)

    Carstens, P-O; Schmidt, J

    2014-03-01

    Dermatomyositis (DM), polymyositis (PM), necrotizing myopathy (NM) and inclusion body myositis (IBM) are four distinct subtypes of idiopathic inflammatory myopathies - in short myositis. Recent studies have shed some light on the unique pathogenesis of each entity. Some of the clinical features are distinct, but muscle biopsy is indispensable for making a reliable diagnosis. The use of magnetic resonance imaging of skeletal muscles and detection of myositis-specific autoantibodies have become useful additions to our diagnostic repertoire. Only few controlled trials are available to substantiate current treatment approaches for myositis and hopes are high that novel modalities will become available within the next few years. In this review we provide an up-to-date overview of the pathogenesis and diagnostic approach of myositis. We aim to present a guide towards therapeutic and general management. © 2013 British Society for Immunology.

  8. MYOSITIS OSSIFICANS TRAUMATICA IN A VAMPIRE BAT (DESMODUS ROTUNDUS).

    Science.gov (United States)

    Hausmann, Jennifer C; Manasse, Jorden; Churgin, Sarah; Steinberg, Howard; Clyde, Victoria L; Wallace, Roberta

    2016-09-01

    A 15-yr-old sexually intact female vampire bat ( Desmodus rotundus ) was diagnosed with myositis ossificans traumatica of the abdominal wall. The bat presented with a large ulcerated firm mass along the abdomen. Radiographs and cytology were performed, followed by surgical exploration. The mass was determined to be nonresectable and the bat was euthanized. Histopathology showed severe necrotizing, degenerative, and pyogranulomatous myositis with osseous and cartilaginous metaplasia, fibrosis, and ulceration, which were consistent with myositis ossificans traumatica. Myositis ossificans traumatica is commonly associated with previous trauma to skeletal muscle. Two years prior, this bat had an emergency Caesarian section at this site, which was postulated to elicit a marked tissue response leading to this condition. Myositis ossificans traumatica is infrequently reported in humans, dogs, cats, pigs, and horses. To the author's knowledge, this is the first report of this condition in a bat.

  9. MINIMAL REQUIREMENTS FOR THE DIAGNOSIS, CLASSIFICATION, AND EVALUATION OF THE TREATMENT OF CHILDHOOD ACUTE LYMPHOBLASTIC-LEUKEMIA (ALL) IN THE BFM FAMILY COOPERATIVE GROUP

    NARCIS (Netherlands)

    VANDERDOESVANDENBERG, A; BARTRAM, CR; BASSO, G; BENOIT, YCM; BIONDI, A; DEBATIN, KM; HAAS, OA; HARBOTT, J; KAMPS, WA; KOLLER, U; LAMPERT, F; LUDWIG, WD; NIEMEYER, CM; VANWERING, ER

    1992-01-01

    Minimal requirements and their rationale for the diagnosis and the response to treatment in childhood acute lymphoblastic leukemia (ALL) were defined in the recently instituted "BFM-Family"-Group, in which the German, Austrian, Dutch, Italian, Belgian, French and Hungarian childhood leukemia study

  10. Myositis with endomysial cell invasion indicates inclusion body myositis even if other criteria are not fulfilled

    NARCIS (Netherlands)

    Van de Vlekkert, J.; Hoogendijk, J. E.; de Visser, M.

    2015-01-01

    The objective of this study was to investigate if patients with endomysial mononuclear cell infiltrates invading non-necrotic fibers have a disease course consistent with inclusion body myositis (IBM), irrespective of other histopathological and clinical characteristics. All patients with a muscle

  11. ATF5 polymorphisms influence ATF function and response to treatment in children with childhood acute lymphoblastic leukemia

    OpenAIRE

    Rousseau, Julie; Gagné, Vincent; Labuda, Malgorzata; Beaubois, Cyrielle; Sinnett, Daniel; Laverdière, Caroline; Moghrabi, Albert; Sallan, Stephen E.; Silverman, Lewis B.; Neuberg, Donna; Kutok, Jeffery L.; Krajinovic, Maja

    2011-01-01

    Asparaginase is a standard and critical component in the therapy of childhood acute lymphoblastic leukemia. Asparagine synthetase (ASNS) and the basic region leucine zipper activating transcription factor 5 (ATF5) and arginosuccinate synthase 1 (ASS1) have been shown to mediate the antileukemic effect of asparaginase and to display variable expression between leukemia cells that are resistant and sensitive to treatment. Fourteen polymorphisms in the regulatory and coding regions of these gene...

  12. Brain Activity Associated With Attention Deficits Following Chemotherapy for Childhood Acute Lymphoblastic Leukemia.

    Science.gov (United States)

    Fellah, Slim; Cheung, Yin T; Scoggins, Matthew A; Zou, Ping; Sabin, Noah D; Pui, Ching-Hon; Robison, Leslie L; Hudson, Melissa M; Ogg, Robert J; Krull, Kevin R

    2018-05-21

    The impact of contemporary chemotherapy treatment for childhood acute lymphoblastic leukemia on central nervous system activity is not fully appreciated. Neurocognitive testing and functional magnetic resonance imaging (fMRI) were obtained in 165 survivors five or more years postdiagnosis (average age = 14.4 years, 7.7 years from diagnosis, 51.5% males). Chemotherapy exposure was measured as serum concentration of methotrexate following high-dose intravenous injection. Neurocognitive testing included measures of attention and executive function. fMRI was obtained during completion of two tasks, the continuous performance task (CPT) and the attention network task (ANT). Image analysis was performed using Statistical Parametric Mapping software, with contrasts targeting sustained attention, alerting, orienting, and conflict. All statistical tests were two-sided. Compared with population norms, survivors demonstrated impairment on number-letter switching (P < .001, a measure of cognitive flexibility), which was associated with treatment intensity (P = .048). Task performance during fMRI was associated with neurocognitive dysfunction across multiple tasks. Regional brain activation was lower in survivors diagnosed at younger ages for the CPT (bilateral parietal and temporal lobes) and the ANT (left parietal and right hippocampus). With higher serum methotrexate exposure, CPT activation decreased in the right temporal and bilateral frontal and parietal lobes, but ANT alerting activation increased in the ventral frontal, insula, caudate, and anterior cingulate. Brain activation during attention and executive function tasks was associated with serum methotrexate exposure and age at diagnosis. These findings provide evidence for compromised and compensatory changes in regional brain function that may help clarify the neural substrates of cognitive deficits in acute lymphoblastic leukemia survivors.

  13. Proteomic changes in a childhood acute lymphoblastic leukemia cell line during the adaptation to vincristine.

    Science.gov (United States)

    Guzmán-Ortiz, Ana Laura; Aparicio-Ozores, Gerardo; Valle-Rios, Ricardo; Medina-Contreras, Oscar; Patiño-López, Genaro; Quezada, Héctor

    Relapse occurs in approximately 20% of Mexican patients with childhood acute lymphoblastic leukemia (ALL). In this group, chemoresistance may be one of the biggest challenges. An overview of complex cellular processes like drug tolerance can be achieved with proteomic studies. The B-lineage pediatric ALL cell line CCRF-SB was gradually exposed to the chemotherapeutic vincristine until proliferation was observed at 6nM, control cells were cultured in the absence of vincristine. The proteome from each group was analyzed by nanoHPLC coupled to an ESI-ion trap mass spectrometer. The identified proteins were grouped into overrepresented functional categories with the PANTHER classification system. We found 135 proteins exclusively expressed in the presence of vincristine. The most represented functional categories were: Toll receptor signaling pathway, Ras Pathway, B and T cell activation, CCKR signaling map, cytokine-mediated signaling pathway, and oxidative phosphorylation. Our study indicates that signal transduction and mitochondrial ATP production are essential during adaptation of leukemic cells to vincristine, these processes represent potential therapeutic targets. Copyright © 2017 Hospital Infantil de México Federico Gómez. Publicado por Masson Doyma México S.A. All rights reserved.

  14. Factors associated with IQ scores in long-term survivors of childhood acute lymphoblastic leukemia

    International Nuclear Information System (INIS)

    Robison, L.L.; Nesbit, M.E. Jr.; Sather, H.N.; Meadows, A.T.; Ortega, J.A.; Hammond, G.D.

    1984-01-01

    To identify factors which might be associated with intellectual function following treatment for childhood acute lymphoblastic leukemia, 50 long-term survivors were studied using the Wechsler Intelligence Scale for Children-Revised. All patients were diagnosed between 1972 and 1974 and were treated on a single clinical trial protocol with identical induction and maintenance chemotherapy plus central nervous system prophylaxis that included cranial radiation. The mean full scale IQ score for the group was 95 (SEM 2.0), with mean verbal IQ of 94.4 and mean performance IQ of 96.9. Factors which were found to be closely associated with a lower IQ score included female sex (in both verbal IQ and full-scale IQ), longer duration of chemotherapy (in performance IQ), and younger age at the time of radiation (in both verbal IQ and full-scale IQ). The age at the time of radiation was found to be significantly correlated with discrepancy between verbal and performance IQ, with younger age being associated with verbal IQ scores higher than performance IQ scores. When analyses were performed within specific subgroups of patients defined by sex and age at the time of radiation, dose of cranial radiation, concomitant intrathecal methotrexate therapy, and duration of therapy were all found to be correlated with a lower level of intellectual function. These preliminary findings provide direction for future studies to help identify high-risk patients

  15. Educational late effects in long-term survivors of childhood acute lymphocytic leukemia.

    Science.gov (United States)

    Peckham, V C; Meadows, A T; Bartel, N; Marrero, O

    1988-01-01

    Records of levels of school achievement in long-term survivors of childhood acute lymphocytic leukemia were obtained for 23 children who had received 2,400-rad cranial irradiation and intrathecal methotrexate and standard chemotherapeutic agents 8 to 10 years previously. The children had been evaluated with standardized tests of intelligence at the time of diagnosis and periodically thereafter. Declines in IQ and cognitive dysfunctions have been previously described. School placements, educational histories, attendance records, learning strengths and weaknesses, social/emotional adjustments, and grade level achievements in reading and mathematics as measured by standardized achievement tests are reported here. Children achieved less than the expected levels in both reading and mathematics given both pretreatment and most recent IQ scores. Neither sex nor initial IQ were related to achievement scores. Children experienced difficulty with attention/concentration, memory, sequencing, and comprehension when performing school tasks. Individual children showed different degrees of dysfunction, but results of this study suggest that there are patterns of specific learning disabilities rather than global retardation. A small number of children achieved greater than expected levels, indicating that individualized instruction, tutoring, and parental support may reduce some learning deficits. Early educational intervention is recommended for similarly treated patients.

  16. Neuropsychological sequelae of central nervous system prophylaxis in survivors of childhood acute lymphoblastic leukemia

    International Nuclear Information System (INIS)

    Said, J.A.; Waters, B.G.; Cousens, P.; Stevens, M.M.

    1989-01-01

    We assessed neuropsychologically 106 children with acute lymphoblastic leukemia (ALL) who had all received cranial irradiation for the prevention of central nervous system (CNS) leukemia 1-13 years previously. Children were assessed for adverse late effects of their therapy, using age-appropriate Wechsler measures of overall intellectual ability and supplementary tests. Forty-five siblings near in age to the patients were tested as controls. The patients who had had the most intensive central nervous system (CNS) prophylaxis were found to have a WISC-R Full Scale IQ 17 points lower than the sibling control group. Performance IQ was more affected than verbal IQ. The patients were more easily distracted and less able to concentrate. The severity of the aftereffects was related to younger age at the time of CNS prophylaxis and to a higher dose of cranial irradiation but not to time since CNS prophylaxis. CNS prophylaxis using a combination of cranial irradiation and intrathecal methotrexate has lowered the incidence of CNS relapse in childhood ALL but is associated with considerable long-term morbidity in survivors

  17. Childhood acute disseminated encephalomyelitis: the role of brain and spinal cord MRI

    International Nuclear Information System (INIS)

    Khong, Pek-Lan; Cheng, Pui-Wai; Chan, Fu-Luk; Ho, Hok-Kung; Wong, Virginia C.N.; Goh, Winnie

    2002-01-01

    Background. It is recognised that the clinical and radiological spectrum of childhood acute disseminated encephalomyelitis (ADEM) is wide. Objective. To determine whether initial MRI features are predictive of clinical outcome and to determine the role of MRI in the management of ADEM. Materials and methods. The MRI scans of ten consecutive children (eight boys, two girls), clinically and radiologically diagnosed to have ADEM, were retrospectively reviewed. Follow-up MRI was available for eight patients. Results. Lesions ranged from small and punctate (<1 cm) to moderate sized and confluent (4-5 cm) to diffuse and extensive. Spinal cord lesions, seen in five of seven children, were contiguous or segmental. Seven children (70%) made good clinical recovery while three children (30%) remained severely handicapped. There was no correlation between the site, extent and pattern of involvement and clinical outcome. However, the evolution of MRI findings on follow-up correlated well with the subsequent clinical course and outcome. Conclusions. Although the extent and site of lesions on initial MRI scans are not predictive of clinical outcome, early MRI of the brain and spine is useful in aiding clinical diagnosis, and subsequent follow-up MRI is helpful in monitoring disease progression. (orig.)

  18. High Throughput Drug Sensitivity Assay and Genomics- Guided Treatment of Patients With Relapsed or Refractory Acute Leukemia

    Science.gov (United States)

    2018-02-28

    Acute Leukemia of Ambiguous Lineage; Recurrent Adult Acute Lymphoblastic Leukemia; Recurrent Adult Acute Myeloid Leukemia; Recurrent Childhood Acute Lymphoblastic Leukemia; Recurrent Childhood Acute Myeloid Leukemia; Refractory Acute Myeloid Leukemia; Refractory Adult Acute Lymphoblastic Leukemia; Refractory Childhood Acute Lymphoblastic Leukemia

  19. Streptococcal necrotizing myositis: a case report and clinical review.

    Science.gov (United States)

    Hourmozdi, Justin J; Hawley, Dean A; Hadi, Christiane M; Tahir, Bilal; Seupaul, Rawle A

    2014-03-01

    Streptococcal necrotizing myositis, also known as gangrenous myositis, is a very rare and severe soft tissue infection that predominately involves skeletal muscle and, eventually, superficial fascia and surrounding tissues. The presentation is often nonspecific until the rapidly progressing clinical course becomes apparent. A high morbidity and mortality rate has been reported in the small number of cases since 1900. Despite several attempts to better define the different entities causing necrotizing myositis, no single definitive causal relationship has been defined. A review of the literature is presented here to help clinicians distinguish those with necrotizing myositis from those with nonnecrotizing myositis when the clinician is at all confronted with the suspicion for such an infection. The case presented is that of a 48-year-old woman who had streptococcal necrotizing myositis. She died roughly 72 h after admission. After the patient's death, the clinical team sought consent for autopsy. Hospital staff made contact with family, and information was obtained from the family that the onset of the patient's symptoms was allegedly temporally related to her acquisition of a new tattoo on the right back, where the tattoo process allegedly included injection of cremated ashes of a pet dog. A high level of suspicion for necrotizing myositis must be maintained for a patient with unexplained severe muscle pain and soft tissue swelling accompanied by systemic inflammatory response syndrome. Copyright © 2014 Elsevier Inc. All rights reserved.

  20. Pediatric nontraumatic myositis ossificans of the neck

    Energy Technology Data Exchange (ETDEWEB)

    Kokkosis, Angela A. [Stony Brook University Medical Center, Stony Brook University School of Medicine, Stony Brook, NY (United States); Balsam, Dvorah [Stony Brook University Medical Center, Department of Radiology, Stony Brook, NY (United States); Lee, Thomas K. [Stony Brook University Medical Center, Department of Pediatric Surgery, Stony Brook, NY (United States); Schreiber, Z.J. [Stony Brook University Medical Center, Department of Pathology, Stony Brook, NY (United States)

    2009-04-15

    Nontraumatic myositis ossificans circumscripta (MOC) is a rarely reported benign heterotopic ossification characterized by the aberrant formation of bone in extraskeletal soft tissues. Although a history of trauma can be elicited in 75% of MOC patients, the etiology is unclear in patients without inciting injury. MOC is associated with young male athletes, and is most often localized to the muscle groups of the extremities. Rare cases have been reported in children and adolescents of nontraumatic MOC in the neck. We present a 15-year-old adolescent with a rapidly growing, painful neck mass without traumatic stimulus. (orig.)

  1. Pediatric nontraumatic myositis ossificans of the neck

    International Nuclear Information System (INIS)

    Kokkosis, Angela A.; Balsam, Dvorah; Lee, Thomas K.; Schreiber, Z.J.

    2009-01-01

    Nontraumatic myositis ossificans circumscripta (MOC) is a rarely reported benign heterotopic ossification characterized by the aberrant formation of bone in extraskeletal soft tissues. Although a history of trauma can be elicited in 75% of MOC patients, the etiology is unclear in patients without inciting injury. MOC is associated with young male athletes, and is most often localized to the muscle groups of the extremities. Rare cases have been reported in children and adolescents of nontraumatic MOC in the neck. We present a 15-year-old adolescent with a rapidly growing, painful neck mass without traumatic stimulus. (orig.)

  2. Myositis ossificans imaging: keys to successful diagnosis

    International Nuclear Information System (INIS)

    Lacout, Alexis; Jarraya, Mohamed; Marcy, Pierre-Yves; Thariat, Juliette; Carlier, Robert Yves

    2012-01-01

    Myositis ossificans (MO) is an inflammatory pseudotumor of the muscle that may be mistaken clinically and even histologically for a malignant soft tissue tumor. The aim of this article is to report the imaging characteristics of MO, the emphasis being on the early diagnostic clues. USG can be used at an early stage to reveal the ‘zone phenomenon,’ which is highly suggestive of MO. A short course of nonsteroidal anti-inflammatory drug therapy may be an efficient treatment for early MO

  3. The metabolic syndrome in survivors of childhood acute lymphoblastic leukemia in Isfahan, Iran

    Directory of Open Access Journals (Sweden)

    Nahid Reisi

    2009-04-01

    Full Text Available

    • BACKGROUND: To determine the prevalence of metabolic syndrome in survivors of childhood leukemia in Isfahan, Iran.
    • METHODS: During a 4-year period (2003 to 2007, 55 children (33 male and 22 female diagnosed with ALL at Unit of Hematology/ Oncology, Department of Pediatrics, Isfahan University of Medical Science, were enrolled in this crosssectional study. Metabolic syndrome was defined using the modified version of Adult Treatment Panel (ATP III criteria. Insulin resistance was defined based on the homeostasis model assessment index (HOMA-IR.
    • RESULTS: The mean age of participates was 10.4 years (range 6-19 years and the mean interval since completion of chemotherapy was 35 months. Twenty percent (11/55 of survivors (10 male, 1 female met criteria for diagnosis of metabolic syndrome. Obesity was observed in one forth of patients and nearly 3/4 of obese patients had metabolic syndrome. High serum insulin levels were found in 16% of participants and in 63% of obese survivors. The mean insulin levels in survivors with metabolic syndrome was three-times more than those without (28.3 mu/l vs. 9.57 mu/l, p = 0.004. Insulin resistance was detected in 72.7% of survivors with metabolic syndrome and it was  ositively correlated with serum triglycerides (0.543, p < 0.001, systolic and diastolic BP (0.348, p = 0.01 and 0.368, p = 006 respectively, insulin levels (0.914, p < 0.001 and blood sugar (0.398, p = 003.
    • CONCLUSIONS: The prevalence of metabolic syndrome in survivors of childhood leukemia in Iran is higher than developed countries. Nearly all of the obese patients had metabolic syndrome. Weight control and regular physical exercise are recommended to the survivors.
    • KEYWORDS: Acute lymphoblastic leukemia, metabolic syndrome, obesity, children.

  4. New developments in genetics of myositis.

    Science.gov (United States)

    Rothwell, Simon; Lamb, Janine A; Chinoy, Hector

    2016-11-01

    This article reviews the advances that have been made in our understanding of the genetics of the idiopathic inflammatory myopathies (IIM) in the past 2 years, with a particular focus on polymyositis, dermatomyositis and inclusion body myositis. Two large human leukocyte antigen (HLA) imputation studies have confirmed a strong association with the 8.1 ancestral haplotype in clinical subgroups of myositis and suggest multiple independent associations on this haplotype. Risk in these genes may be due to specific amino acid positions within the peptide-binding grooves of HLA molecules. A large genetic study in 2566 IIM patients revealed associations such as PTPN22, STAT4, UBE2L3 and BLK, which overlap with risk variants reported in other seropositive autoimmune diseases. There is also evidence of different genetic architectures in clinical subgroups of IIM. Candidate gene studies in the Japanese and Chinese populations have replicated previous IIM associations which suggest common aetiology between ethnicities. International collaborations have facilitated large genetic studies in IIM that have revealed much about the genetics of this rare complex disease both within the HLA region and genome-wide. Future approaches, such as sequencing and trans-ethnic meta-analyses, will advance our knowledge of IIM genetics.

  5. Clinical significance of productive immunoglobulin heavy chain gene rearrangements in childhood acute lymphoblastic leukemia.

    Science.gov (United States)

    Katsibardi, Katerina; Braoudaki, Maria; Papathanasiou, Chrissa; Karamolegou, Kalliopi; Tzortzatou-Stathopoulou, Fotini

    2011-09-01

    We analyzed the CDR3 region of 80 children with B-cell acute lymphoblastic leukemia (B-ALL) using the ImMunoGeneTics Information System and JOINSOLVER. In total, 108 IGH@ rearrangements were analyzed. Most of them (75.3%) were non-productive. IGHV@ segments proximal to IGHD-IGHJ@ were preferentially rearranged (45.3%). Increased utilization of IGHV3 segments IGHV3-13 (11.3%) and IGHV3-15 (9.3%), IGHD3 (30.5%), and IGHJ4 (34%) was noted. In pro-B ALL more frequent were IGHV3-11 (33.3%) and IGHV6-1 (33.3%), IGHD2-21 (50%), IGHJ4 (50%), and IGHJ6 (50%) segments. Shorter CDR3 length was observed in IGHV@6, IGHD7, and IGHJ1 segments, whereas increased CDR3 length was related to IGHV3, IGHD2, and IGHJ4 segments. Increased risk of relapse was found in patients with productive sequences. Specifically, the relapse-free survival rate at 5 years in patients with productive sequences at diagnosis was 75% (standard error [SE] ±9%), whereas in patients with non-productive sequences it was 97% (SE ±1.92%) (p-value =0.0264). Monoclonality and oligoclonality were identified in 81.2% and 18.75% cases at diagnosis, respectively. Sequence analysis revealed IGHV@ to IGHDJ joining only in 6.6% cases with oligoclonality. The majority (75%) of relapsed patients had monoclonal IGH@ rearrangements. The preferential utilization of IGHV@ segments proximal to IGHDJ depended on their location on the IGHV@ locus. Molecular mechanisms occurring during IGH@ rearrangement might play an essential role in childhood ALL prognosis. In our study, the productivity of the rearranged sequences at diagnosis proved to be a significant prognostic factor.

  6. Tobacco smoke and risk of childhood acute non-lymphocytic leukemia: findings from the SETIL study.

    Directory of Open Access Journals (Sweden)

    Stefano Mattioli

    Full Text Available Parental smoking and exposure of the mother or the child to environmental tobacco smoke (ETS as risk factors for Acute non-Lymphocytic Leukemia (AnLL were investigated.Incident cases of childhood AnLL were enrolled in 14 Italian Regions during 1998-2001. We estimated odds ratios (OR and 95% confidence intervals (95%CI conducting logistic regression models including 82 cases of AnLL and 1,044 controls. Inverse probability weighting was applied adjusting for: age; sex; provenience; birth order; birth weight; breastfeeding; parental educational level age, birth year, and occupational exposure to benzene.Paternal smoke in the conception period was associated with AnLL (OR for ≥ 11 cigarettes/day  = 1.79, 95% CI 1.01-3.15; P trend 0.05. An apparent effect modification by maternal age was identified: only children of mothers aged below 30 presented increased risks. We found weak statistical evidence of an association of AnLL with maternal exposure to ETS (OR for exposure>3 hours/day  = 1.85, 95%CI 0.97-3.52; P trend 0.07. No association was observed between AnLL and either maternal smoking during pregnancy or child exposure to ETS.This study is consistent with the hypothesis that paternal smoke is associated with AnLL. We observed statistical evidence of an association between maternal exposure to ETS and AnLL, but believe bias might have inflated our estimates.

  7. Tobacco Smoke and Risk of Childhood Acute Non-Lymphocytic Leukemia: Findings from the SETIL Study

    Science.gov (United States)

    Mattioli, Stefano; Farioli, Andrea; Legittimo, Patrizia; Miligi, Lucia; Benvenuti, Alessandra; Ranucci, Alessandra; Salvan, Alberto; Rondelli, Roberto; Magnani, Corrado

    2014-01-01

    Background Parental smoking and exposure of the mother or the child to environmental tobacco smoke (ETS) as risk factors for Acute non-Lymphocytic Leukemia (AnLL) were investigated. Methods Incident cases of childhood AnLL were enrolled in 14 Italian Regions during 1998–2001. We estimated odds ratios (OR) and 95% confidence intervals (95%CI) conducting logistic regression models including 82 cases of AnLL and 1,044 controls. Inverse probability weighting was applied adjusting for: age; sex; provenience; birth order; birth weight; breastfeeding; parental educational level age, birth year, and occupational exposure to benzene. Results Paternal smoke in the conception period was associated with AnLL (OR for ≥11 cigarettes/day  = 1.79, 95% CI 1.01–3.15; P trend 0.05). An apparent effect modification by maternal age was identified: only children of mothers aged below 30 presented increased risks. We found weak statistical evidence of an association of AnLL with maternal exposure to ETS (OR for exposure>3 hours/day  = 1.85, 95%CI 0.97–3.52; P trend 0.07). No association was observed between AnLL and either maternal smoking during pregnancy or child exposure to ETS. Conclusions This study is consistent with the hypothesis that paternal smoke is associated with AnLL. We observed statistical evidence of an association between maternal exposure to ETS and AnLL, but believe bias might have inflated our estimates. PMID:25401754

  8. Thiopurine methyltransferase genotype-phenotype discordance and thiopurine active metabolite formation in childhood acute lymphoblastic leukaemia.

    Science.gov (United States)

    Lennard, Lynne; Cartwright, Cher Suzanne; Wade, Rachel; Richards, Susan M; Vora, Ajay

    2013-07-01

    In children with acute lymphoblastic leukaemia (ALL) bone marrow activity can influence red blood cell (RBC) kinetics, the surrogate tissue for thiopurine methyltransferase (TPMT) measurements. The aim of this study was to investigate TPMT phenotype-genotype concordance in ALL, and the influence of TPMT on thiopurine metabolite formation. We measured TPMT (activity, as units ml(-1) packed RBCs and genotype) at diagnosis (n = 1150) and TPMT and thioguanine nucleotide (TGN) and methylmercaptopurine nucleotide (MeMPN) metabolites (pmol/8 × 10(8) RBCs) during chemotherapy (n = 1131) in children randomized to thioguanine or mercaptopurine on the United Kingdom trial ALL97. Median TPMT activity at diagnosis (8.5 units) was significantly lower than during chemotherapy (13.8 units, median difference 5.1 units, 95% confidence interval (CI) 4.8, 5.4, P mercaptopurine, median TGNs were higher in TPMT heterozygous genotype (754 pmol) than wild-type (360 pmol) patients (median difference 406 pmol, 95% CI 332, 478, P products of the TPMT reaction, were higher in wild-type (10 650 pmol) than heterozygous patients (3868 pmol) (P < 0.0001). In TPMT intermediate activity patients with a wild-type genotype, TGN (median 366 pmol) and MeMPN (median 8590 pmol) concentrations were similar to those in wild-type, high activity patients. In childhood ALL, TPMT activity should not be used to predict heterozygosity particularly in blood samples obtained at disease diagnosis. Genotype is a better predictor of TGN accumulation during chemotherapy. © 2012 The Authors. British Journal of Clinical Pharmacology © 2012 The British Pharmacological Society.

  9. Thiopurine methyltransferase genotype–phenotype discordance and thiopurine active metabolite formation in childhood acute lymphoblastic leukaemia

    Science.gov (United States)

    Lennard, Lynne; Cartwright, Cher Suzanne; Wade, Rachel; Richards, Susan M; Vora, Ajay

    2013-01-01

    Aims In children with acute lymphoblastic leukaemia (ALL) bone marrow activity can influence red blood cell (RBC) kinetics, the surrogate tissue for thiopurine methyltransferase (TPMT) measurements. The aim of this study was to investigate TPMT phenotype–genotype concordance in ALL, and the influence of TPMT on thiopurine metabolite formation. Methods We measured TPMT (activity, as units ml−1 packed RBCs and genotype) at diagnosis (n = 1150) and TPMT and thioguanine nucleotide (TGN) and methylmercaptopurine nucleotide (MeMPN) metabolites (pmol/8 × 108 RBCs) during chemotherapy (n = 1131) in children randomized to thioguanine or mercaptopurine on the United Kingdom trial ALL97. Results Median TPMT activity at diagnosis (8.5 units) was significantly lower than during chemotherapy (13.8 units, median difference 5.1 units, 95% confidence interval (CI) 4.8, 5.4, P mercaptopurine, median TGNs were higher in TPMT heterozygous genotype (754 pmol) than wild-type (360 pmol) patients (median difference 406 pmol, 95% CI 332, 478, P products of the TPMT reaction, were higher in wild-type (10 650 pmol) than heterozygous patients (3868 pmol) (P < 0.0001). In TPMT intermediate activity patients with a wild-type genotype, TGN (median 366 pmol) and MeMPN (median 8590 pmol) concentrations were similar to those in wild-type, high activity patients. Conclusions In childhood ALL, TPMT activity should not be used to predict heterozygosity particularly in blood samples obtained at disease diagnosis. Genotype is a better predictor of TGN accumulation during chemotherapy. PMID:23252716

  10. Endocrinological and Cardiological Late Effects Among Survivors of Childhood Acute Lymphoblastic Leukemia

    Directory of Open Access Journals (Sweden)

    Hale Ören

    2013-09-01

    Full Text Available Objective: Survival rates for childhood acute lymphoblastic leukemia (ALL have significantly improved and late effects of therapy have been important in the follow-up of survivors. The objective of this study is to identify the endocrinological and cardiological late effects of ALL patients treated in our pediatric hematology unit. Materials and Methods: Patients treated for ALL with BFM protocols after at least 5 years of diagnosis and not relapsed were included in the study. Endocrinological late effects (growth failure, obesity, insulin resistance, dyslipidemia, thyroid gland disorders, osteopenia/osteoporosis, and pubertal disorders and cardiological late effects were evaluated. The study group was evaluated with anthropometric measurements, body mass index, and laboratory testing of fasting glucose, insulin, serum lipids, thyroid functions, and bone mineral densities. Echocardiography and pulsed wave Doppler imaging were performed for analysis of cardiac functions. Results: Of the 38 ALL survivors, at least 1 adverse event occurred in 23 (60%, with 8 of them (21% having multiple problems. Six (16% of the survivors were obese and 8 (21% of them were overweight. Subjects who were overweight or obese at the time of diagnosis were more likely to be overweight or obese at last follow-up. Obesity was more frequently determined in patients who were younger than 6 years of age at the time of diagnosis. Insulin resistance was observed in 8 (21% subjects. Insulin resistance was more frequently seen in subjects who had family history of type 2 diabetes mellitus. Hyperlipidemia was detected in 8 (21% patients. Hypothyroidism or premature thelarche were detected in 2 children. Two survivors had osteopenia. Cardiovascular abnormalities occurred in one of the subjects with hypertension and cardiac diastolic dysfunction. Conclusion: We point out the necessity of follow-up of these patients for endocrinological and cardiological late effects, since at least

  11. Long-term sequelae after chemotherapy and radiotherapy for childhood acute lymphoblastic leukemia

    International Nuclear Information System (INIS)

    Reiter, G.E.P.

    1994-12-01

    Background: Effective forms of treatment for acute lymphoblastic leukemia (ALL) in childhood now result in survival rates of more than 70%. With improving cure rates increasing interest has been focused on adverse late effects caused by chemotherapy and cranial irradiation. Methods: We investigated 40 survivors, 22 males and 18 females with an average age of 15.8 years (6.6 to 28.1), all treated at the Children's Hospital of Innsbruck, Austria, after a follow-up of 9.2 years (4.6 - 20) on average in continuous complete remission. Our evaluation included cardiac status, growth, endocrinological function and a wide variety of other clinical and laboratory investigations. To identify cardiac dysfunction due to anthracyclines we performed Dobutamine-Stress-Echocardiography (DSE) using a graded dosage regimen (1.0, 2.5 and 5.0 μg/kg/min). We compared the DSE data with those obtained from 17 age-matched control subjects. Results: Conventional echocardiography revealed only 4 patients (11.4%) with abnormalities of left ventricular contractility (measured as left ventricular shortening fraction). In contrast DSE detected a 3-fold higher percentage of patients with cardiac dysfunction. There was no correlation between total cumulative anthracycline dose, age at time of diagnosis and length of follow-up with incidence of abnormalities. Primary hypothyroidism in 4 patients (10%) and a permanent linear growth retardation in 5 patients (12%, all of which had been irradiated) were the only endocrinological problems detected. No survivor showed hemato-immunological disturbances. Remarkably, transfusion- associated sequelae, liver or kidney dysfunction were not found. Conclusion: The high incidence of late cardiac effects requires continued monitoring of patients after ALL treatment. In this respect, DSE revealed to be a sensitive method. (author)

  12. Genetic evaluation of childhood acute lymphoblastic leukemia in Iraq using FTA cards.

    Science.gov (United States)

    Al-Kzayer, Lika'a Fasih Y; Sakashita, Kazuo; Matsuda, Kazuyuki; Al-Hadad, Salma Abbas; Al-Jadiry, Mazin Faisal; Abed, Wisam Majeed; Abdulkadhim, Jaafar M H; Al-Shujairi, Tariq Abadi; Hasan, Janan Ghalib; Al-Abdullah, Hussam M Salih; Al-Ani, Mouroge H; Saber, Paiman Ali I; Inoshita, Toshi; Kamata, Minoru; Koike, Kenichi

    2012-09-01

    Genetic examination of childhood leukemia has not been available in Iraq. We here report the frequency of TEL-AML1, E2A-PBX1, MLL-AF4, and BCR-ABL chimeric transcripts in 264 Iraqi children newly diagnosed with acute lymphoblastic leukemia (ALL), using FTA cards impregnated with bone marrow aspirate or whole blood. The diagnosis of ALL was made according to standard French-American-British morphologic criteria. Based on the results of storage temperature and duration, most of the FTA samples were preserved at 4°C for up to 6 weeks in five Iraqi hospitals and then transferred to Japan for molecular analysis. Nested reverse transcription-polymerase chain reaction was adopted for the analysis. TEL-AML1 chimeric transcript product was found in 32 (12.1%) of 264 ALL patients. Eleven (4.2%) patients, 4 (1.5%) patients, and 11 (4.2%) patients had E2A-PBX1 mRNA, MLL-AF4 mRNA, and BCR-ABL mRNA, respectively. One patient had both TEL-AML1 and E2A-PBX1 fusion genes. The incidence of TEL-AML1 in Iraqi ALL children appears to be similar to or slightly higher than those of Jordan (12%) and Kuwait (7%). The prevalence and clinical findings of ALL patients with either E2A-PBX1 or BCR-ABL were comparable to the data reported elsewhere. International collaboration via FTA cards may be helpful to improve diagnosis and management of patients with hematological malignancies in low-income and underdeveloped countries. Copyright © 2012 Wiley Periodicals, Inc.

  13. Emerging therapeutic options for sporadic inclusion body myositis

    Directory of Open Access Journals (Sweden)

    Alfano LN

    2015-09-01

    Full Text Available Lindsay N Alfano, Linda P Lowes Nationwide Children’s Hospital, Center for Gene Therapy, Columbus, OH, USA Abstract: Sporadic inclusion body myositis is the most common inflammatory muscle disorder preferentially affecting males over the age of 40 years. Progressive muscle weakness of the finger flexors and quadriceps muscles results in loss of independence with activities of daily living and eventual wheelchair dependence. Initial signs of disease are often overlooked and can lead to mis- or delayed diagnosis. The underlying cause of disease is unknown, and disease progression appears refractory to available treatment options. This review discusses the clinical presentation of inclusion body myositis and the current efforts in diagnosis, and focuses on the current state of research for both nonpharmacological and pharmacological treatment options for this patient group. Keywords: myositis, inclusion body myositis, inflammatory myopathy, treatment, function, outcomes

  14. Tubuloreticular structures in different types of myositis: implications for pathogenesis

    NARCIS (Netherlands)

    Bronner, Irene M.; Hoogendijk, Jessica E.; Veldman, Henk; Ramkema, Marja; van den Bergh Weerman, Marius A.; Rozemuller, Annemieke J. M.; de Visser, Marianne

    2008-01-01

    In dermatomyositis (DM) there is strong histopathological evidence of a microvascular pathogenesis, including endothelial microtubular inclusions. In nonspecific myositis, perimysial and perivascular infiltrates in the muscle biopsy similar to DM are found. Microtubular inclusions in endothelial

  15. Myositis ossificans and the three-phase bone scan

    International Nuclear Information System (INIS)

    Drane, W.E.

    1984-01-01

    Myositis ossificans circumscripta (or paraosteoarthropathy) in paraplegics has been a well known entity since its classic description in 1918 by Dejerine and Ceillier. The disease is characterized by ectopic bone formation, primarily occurring in the particular soft tissues of the hips and knees. Hypotheses concerning its origin have been proposed, but its etiology is still unknown. Myositis ossificans can occur after traumatic injury, but develops in paraplegics without apparent injury in the involved regions. Radionuclide techniques have been used in the evaluation of myositis ossificans, particularly with serial studies to stage the activity of the disease. The author reports a case of myositis ossificans in a paraplegic that emphasizes the benefit of the three-phase bone scan in the early diagnosis of this disorder

  16. Focal myositis of lower extremity responsive to botulinum A toxin.

    Science.gov (United States)

    Mitrovic, Josko; Prka, Zeljko; Zic, Rado; Marusic, Srecko; Morovic-Vergles, Jadranka

    2014-01-01

    Focal myositis is a rare, mostly benign disease (pseudotumor) of skeletal muscle, histopathologically characterized by interstitial myositis and tumorous enlargement of a single muscle. The etiology of focal myositis remains unknown; however, localized myopathy has been postulated to be caused by denervation lesions. This case report describes a patient that presented with clinical, laboratory, electromyoneurography, and magnetic resonance imaging features of focal myositis complicated with intervertebral disk protrusion in the lumbosacral spine affected with radicular distress. In most cases, focal myositic lesions show spontaneous regression, relapses are rare, and long-term prognosis is good. There is a wide spectrum of therapeutic options, from no therapy at all through nonsteroidal antirheumatics and glucocorticoids to radiotherapy, surgical excision, and immunosuppressants. In the patient presented, treatment with glucocorticoids, methotrexate, and surgical excision failed to produce satisfactory results. Clinical improvement, pain relief, and reduction in lower leg volume were only achieved by local infiltration of botulinum A toxin.

  17. Tubuloreticular structures in different types of myositis: Implications for pathogenesis

    NARCIS (Netherlands)

    Bronner, I.M.; Hoogendijk, J.E.; Veldman, H.; Ramkema, M; Weerman, M.A.V.; Rozemuller, A.J.M.; Visser, M.

    2008-01-01

    In dermatomyositis (DM) there is strong histopathological evidence of a microvascular pathogenesis, including endothelial microtubular inclusions. In nonspecific myositis, perimysial and perivascular infiltrates in the muscle biopsy similar to DM are found. Microtubular inclusions in endothelial

  18. Inflammatory muscle diseases (myositis); Entzuendliche Muskelerkrankungen (Myositiden)

    Energy Technology Data Exchange (ETDEWEB)

    Vahlensieck, M. [Praxisnetz Radiologie und Nuklearmedizin Bonn Bad Godesberg Rhein Sieg, Bonn (Germany)

    2017-12-15

    Inflammatory muscle diseases are quite heterogeneous and frequently a specific diagnosis is not easy. Magnetic resonance imaging (MRI) is best suited to demonstrate pattern and size of inflamed muscles. Sensitivity of MRI in showing inflamed muscles is nearly 100%. Specificity, however, is much lower. In cases of suspected bacterial myositis, sonography may be used to exclude abscess formation prior to MRI for more precise information about inflamed muscles. (orig.) [German] Entzuendliche Muskelerkrankungen stellen eine heterogene Gruppe dar und sind mitunter nur schwer exakt zu diagnostizieren. Die Magnetresonanztomographie (MRT) stellt Ausdehnung und Befallsmuster am besten dar. Der Nachweis entzuendlicher Oedeme oder von Einschmelzungen gelingt mit der MRT in annaehernd 100 % der Faelle. Die Spezifitaet der Methode ist allerdings deutlich geringer. Bei Verdacht auf bakterielle Myositiden kommt erst die Sonographie zum Ausschluss von Einschmelzungen und dann die MRT zum Einsatz. (orig.)

  19. Statin-induced autoimmune necrotizing myositis

    Directory of Open Access Journals (Sweden)

    Katarzyna Ząber

    2016-02-01

    Full Text Available Myositides comprise a large group of disorders involving limb muscle weakness. In differential diagnosis we have to consider idiopathic myositides, myositides associated with other diseases, and those induced by external factors, e.g. drug-induced. Statins are commonly used drugs, but many patients experience a broad spectrum of adverse effects including symptoms from skeletal muscle. Physicians should pay special attention to patients reporting muscle weakness lasting longer than 12 weeks, despite statin withdrawal, as well as other symptoms: dysphagia, disturbed grip function, elevated creatinine kinase (CK levels and abnormal electromyography. The reported case deals with the problem of differential diagnosis of drug-induced muscle injury, polymyositis with a recently reported myopathy – statin-induced autoimmune necrotizing myositis, related to anti-HMGCR antibodies.

  20. Extraocular myositis in a female puppy

    Directory of Open Access Journals (Sweden)

    O. Adegboye

    2015-04-01

    Full Text Available Extraocular myositis (EOM is not commonly encountered in dogs. It is generally diagnosed based on clinical features of exophthalmos without third eyelid protrusion, pain or vision loss. The traditional treatment of choice is prednisolone. This report describes a case of a mixed-breed puppy with clinical signs consistent with EOM, the use of ascorbic acid as an adjuvant to traditional corticosteroid therapy and rapid resolution of the condition without recurrence. It also shows that prolapse of the third eyelid and ptosis of the lower eyelids are possible signs of EOM during recovery. This is the first report of this sort from Africa and therefore the report is of epidemiological significance.

  1. Genomic signatures characterize leukocyte infiltration in myositis muscles

    Science.gov (United States)

    2012-01-01

    Background Leukocyte infiltration plays an important role in the pathogenesis and progression of myositis, and is highly associated with disease severity. Currently, there is a lack of: efficacious therapies for myositis; understanding of the molecular features important for disease pathogenesis; and potential molecular biomarkers for characterizing inflammatory myopathies to aid in clinical development. Methods In this study, we developed a simple model and predicted that 1) leukocyte-specific transcripts (including both protein-coding transcripts and microRNAs) should be coherently overexpressed in myositis muscle and 2) the level of over-expression of these transcripts should be correlated with leukocyte infiltration. We applied this model to assess immune cell infiltration in myositis by examining mRNA and microRNA (miRNA) expression profiles in muscle biopsies from 31 myositis patients and 5 normal controls. Results Several gene signatures, including a leukocyte index, type 1 interferon (IFN), MHC class I, and immunoglobulin signature, were developed to characterize myositis patients at the molecular level. The leukocyte index, consisting of genes predominantly associated with immune function, displayed strong concordance with pathological assessment of immune cell infiltration. This leukocyte index was subsequently utilized to differentiate transcriptional changes due to leukocyte infiltration from other alterations in myositis muscle. Results from this differentiation revealed biologically relevant differences in the relationship between the type 1 IFN pathway, miR-146a, and leukocyte infiltration within various myositis subtypes. Conclusions Results indicate that a likely interaction between miR-146a expression and the type 1 IFN pathway is confounded by the level of leukocyte infiltration into muscle tissue. Although the role of miR-146a in myositis remains uncertain, our results highlight the potential benefit of deconvoluting the source of

  2. Risk-Based Classification System of Patients With Newly Diagnosed Acute Lymphoblastic Leukemia

    Science.gov (United States)

    2018-02-22

    Adult B Acute Lymphoblastic Leukemia; Adult T Acute Lymphoblastic Leukemia; Childhood B Acute Lymphoblastic Leukemia; Childhood T Acute Lymphoblastic Leukemia; Untreated Adult Acute Lymphoblastic Leukemia; Untreated Childhood Acute Lymphoblastic Leukemia

  3. Genes commonly deleted in childhood B-cell precursor acute lymphoblastic leukemia: association with cytogenetics and clinical features

    Science.gov (United States)

    Schwab, Claire J.; Chilton, Lucy; Morrison, Heather; Jones, Lisa; Al-Shehhi, Halima; Erhorn, Amy; Russell, Lisa J.; Moorman, Anthony V.; Harrison, Christine J.

    2013-01-01

    In childhood B-cell precursor acute lymphoblastic leukemia, cytogenetics is important in diagnosis and as an indicator of response to therapy, thus playing a key role in risk stratification of patients for treatment. Little is known of the relationship between different cytogenetic subtypes in B-cell precursor acute lymphoblastic leukemia and the recently reported copy number abnormalities affecting significant leukemia associated genes. In a consecutive series of 1427 childhood B-cell precursor acute lymphoblastic leukemia patients, we have determined the incidence and type of copy number abnormalities using multiplex ligation-dependent probe amplification. We have shown strong links between certain deletions and cytogenetic subtypes, including the novel association between RB1 deletions and intrachromosomal amplification of chromosome 21. In this study, we characterized the different copy number abnormalities and show heterogeneity of PAX5 and IKZF1 deletions and the recurrent nature of RB1 deletions. Whole gene losses are often indicative of larger deletions, visible by conventional cytogenetics. An increased number of copy number abnormalities is associated with NCI high risk, specifically deletions of IKZF1 and CDKN2A/B, which occur more frequently among these patients. IKZF1 deletions and rearrangements of CRLF2 among patients with undefined karyotypes may point to the poor risk BCR-ABL1-like group. In conclusion, this study has demonstrated in a large representative cohort of children with B-cell precursor acute lymphoblastic leukemia that the pattern of copy number abnormalities is highly variable according to the primary genetic abnormality. PMID:23508010

  4. Minimal Residual Disease Evaluation in Childhood Acute Lymphoblastic Leukemia: An Economic Analysis.

    Science.gov (United States)

    2016-01-01

    Minimal residual disease (MRD) testing by higher performance techniques such as flow cytometry and polymerase chain reaction (PCR) can be used to detect the proportion of remaining leukemic cells in bone marrow or peripheral blood during and after the first phases of chemotherapy in children with acute lymphoblastic leukemia (ALL). The results of MRD testing are used to reclassify these patients and guide changes in treatment according to their future risk of relapse. We conducted a systematic review of the economic literature, cost-effectiveness analysis, and budget-impact analysis to ascertain the cost-effectiveness and economic impact of MRD testing by flow cytometry for management of childhood precursor B-cell ALL in Ontario. A systematic literature search (1998-2014) identified studies that examined the incremental cost-effectiveness of MRD testing by either flow cytometry or PCR. We developed a lifetime state-transition (Markov) microsimulation model to quantify the cost-effectiveness of MRD testing followed by risk-directed therapy to no MRD testing and to estimate its marginal effect on health outcomes and on costs. Model input parameters were based on the literature, expert opinion, and data from the Pediatric Oncology Group of Ontario Networked Information System. Using predictions from our Markov model, we estimated the 1-year cost burden of MRD testing versus no testing and forecasted its economic impact over 3 and 5 years. In a base-case cost-effectiveness analysis, compared with no testing, MRD testing by flow cytometry at the end of induction and consolidation was associated with an increased discounted survival of 0.0958 quality-adjusted life-years (QALYs) and increased discounted costs of $4,180, yielding an incremental cost-effectiveness ratio (ICER) of $43,613/QALY gained. After accounting for parameter uncertainty, incremental cost-effectiveness of MRD testing was associated with an ICER of $50,249/QALY gained. In the budget-impact analysis, the

  5. E2F3a gene expression has prognostic significance in childhood acute lymphoblastic leukemia.

    Science.gov (United States)

    Wang, Kai-Ling; Mei, Yan-Yan; Cui, Lei; Zhao, Xiao-Xi; Li, Wei-Jing; Gao, Chao; Liu, Shu-Guang; Jiao, Ying; Liu, Fei-Fei; Wu, Min-Yuan; Ding, Wei; Li, Zhi-Gang

    2014-10-01

    To study E2F3a expression and its clinical significance in children with acute lymphoblastic leukemia (ALL). We quantified E2F3a expression at diagnosis in 148 children with ALL by real-time PCR. In the test cohort (n = 48), receiver operating characteristic (ROC) curve was used to find the best cut-off point to divide the patients into E2F3a low- and high-expression groups. The prognostic significance of E2F3a expression was investigated in the test cohort and confirmed in the validation cohort (n = 100). The correlations of E2F3a expression with the clinical features and treatment outcome of these patients were analyzed. ROC curve analysis indicated that the best cut-off point of E2F3a expression was 0.3780. In the test cohort, leukemia-free survival (LFS) and event-free survival (EFS) of the low-expression group were lower than those of the high-expression group (log rank: P = 0.026 for both). This finding was verified in the validation cohort. LFS, EFS, and overall survival were also lower in the low-expression group than in the high-expression group (log rank, P = 0.015, 0.008, and 0.002 respectively). E2F3a low expression was correlated with the existence of BCR-ABL fusion. An algorithm composed of E2F3a expression and minimal residual disease (MRD) could predict relapse or induction failure more precisely than current risk stratification. These results were still significant in the ALL patients without BCR-ABL fusion. Low expression of E2F3a was associated with inferior prognosis in childhood ALL. An algorithm composed of E2F3a expression and MRD could predict relapse or induction failure more precisely than that of the current risk stratification. © 2014 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

  6. Final height and body mass index after treatment for childhood acute lymphoblastic leukemia

    Directory of Open Access Journals (Sweden)

    Tadej Battelino

    2006-03-01

    Full Text Available Background: Newer and more agressive forms of chemotherapy and newer protocols in the treatment have increased the survival rate of children with malignancies. Improved survival rates in children treated for acute lymphoblastic leukemia have focused attention on late effects including disorders of growth and puberty, and development of overweight or obesity.Methods: The height and weight expressed as body mass index (BMI of 47 patients (29 girls, 18 boys long-term survivors of childhood lymphoblastic leukemia was retrospectively analyzed. Height standard deviation score (HSDS according to Tanner and body mass index standard deviation scores (BMISDS before treatment and at follow-up were calculated. At the time of analysis all patients remained in first remission. Twenty-eight patients had cranial radiation with 12–18 Gy and 15 with 20–30 Gy. Four patients had no radiotherapy. All patients were treated with standard chemotherapy including intrathecal Methotrexat. Mean age (SD at the diagnosis was 5 5/12 (3 2/12 years, range (5/12 – 12 5/12 and at the time of evaluation 17 11/12 (3 9/12 years, range (10 1/12 – 31 6/12.Results: We observed significant decrease in HSDS from diagnosis to the final height in both radiation groups (p < 0.01 but the decrement in final height was similar with both radiation dose regimens. The decrement in final height SDS was greater in patients treated at a younger age (Pearson, p < 0.01. Girls treated with higher radiation dose (20–30 Gy were more severely affected than boys. In both radiation dose treatment groups there was a significant increase in BMISDS between diagnosis and final height (p < 0.0001 with no significant difference between treatment groups. Menarche occurred earlier in girls than normal with no significant difference between both radiation dose regimens.Conclusions: We observed significant deterioration in HSDS and increment in BMISDS regardless to the radiation dose.

  7. Minimal Residual Disease Evaluation in Childhood Acute Lymphoblastic Leukemia: An Economic Analysis

    Science.gov (United States)

    Gajic-Veljanoski, O.; Pham, B.; Pechlivanoglou, P.; Krahn, M.; Higgins, Caroline; Bielecki, Joanna

    2016-01-01

    Background Minimal residual disease (MRD) testing by higher performance techniques such as flow cytometry and polymerase chain reaction (PCR) can be used to detect the proportion of remaining leukemic cells in bone marrow or peripheral blood during and after the first phases of chemotherapy in children with acute lymphoblastic leukemia (ALL). The results of MRD testing are used to reclassify these patients and guide changes in treatment according to their future risk of relapse. We conducted a systematic review of the economic literature, cost-effectiveness analysis, and budget-impact analysis to ascertain the cost-effectiveness and economic impact of MRD testing by flow cytometry for management of childhood precursor B-cell ALL in Ontario. Methods A systematic literature search (1998–2014) identified studies that examined the incremental cost-effectiveness of MRD testing by either flow cytometry or PCR. We developed a lifetime state-transition (Markov) microsimulation model to quantify the cost-effectiveness of MRD testing followed by risk-directed therapy to no MRD testing and to estimate its marginal effect on health outcomes and on costs. Model input parameters were based on the literature, expert opinion, and data from the Pediatric Oncology Group of Ontario Networked Information System. Using predictions from our Markov model, we estimated the 1-year cost burden of MRD testing versus no testing and forecasted its economic impact over 3 and 5 years. Results In a base-case cost-effectiveness analysis, compared with no testing, MRD testing by flow cytometry at the end of induction and consolidation was associated with an increased discounted survival of 0.0958 quality-adjusted life-years (QALYs) and increased discounted costs of $4,180, yielding an incremental cost-effectiveness ratio (ICER) of $43,613/QALY gained. After accounting for parameter uncertainty, incremental cost-effectiveness of MRD testing was associated with an ICER of $50,249/QALY gained. In

  8. Upregulation of microRNA-21 is a poor prognostic marker in patients with childhood B cell acute lymphoblastic leukemia.

    Science.gov (United States)

    Labib, Hany Abedelmalik; Elantouny, Neveen G; Ibrahim, Nevin F; Alnagar, Ahmed A

    2017-08-01

    Many studies have demonstrated that microRNA-21 (miR-21) is an oncogene and is upregulated in tumor tissue. However, its association with B-cell acute lymphoblastic leukemia (B-ALL) remains poorly understood. The expression of miR-21 was detected by real-time quantitative PCR in 75 children with de novo B-ALL as well as in 50 healthy controls. This study was conducted to evaluate the miR-21 as a biomarker for risk assessment, diagnosis and prognosis. Compared with normal controls, miR-21 expression was significantly upregulated in childhood B-ALL patients. Using the receiver operating characteristic curve 3.23 was selected as the cut-off value of miR-21 expression in distinguishing patients from controls. Patients group with High miR-21 expression was significantly associated with those aged 10 years, lower platelets count, more incidence of CNS infiltration and poorer treatment outcome also, they showed a significantly poorer disease-free survival (DFS) and overall survival (OS) compared to those with low miR-21 expression group. Its expression was an independent prognostic marker according to multivariate analysis. This is the first report demonstrating the upregulation of miR-21 in childhood B-ALL, and its association with poor response to induction therapy, shorter DFS and OS. These results suggest that miR-21 upregulation represent an unfavorable prognostic marker in Childhood B-ALL.

  9. Vitamin and mineral supplements in pregnancy and the risk of childhood acute lymphoblastic leukaemia: a case-control study

    Directory of Open Access Journals (Sweden)

    Skegg David CG

    2007-07-01

    Full Text Available Abstract Background An earlier case-control study from Western Australia reported a protective effect of maternal folic acid supplementation during pregnancy on the risk of childhood acute lymphoblastic leukaemia (ALL. The present study tested that association. Methods A national case-control study was conducted in New Zealand. The mothers of 97 children with ALL and of 303 controls were asked about vitamin and mineral supplements taken during pregnancy. Results There was no association between reported folate intake during pregnancy and childhood ALL (adjusted odds ratio (OR 1.1, 95% confidence interval (CI 0.5–2.7. Combining our results with the study from Western Australia and another study from Québec in a meta-analysis gave a summary OR of 0.9 (95% CI 0.8–1.1. Conclusion Our own study, of similar size to the Australian study, does not support the hypothesis of a protective effect of folate on childhood ALL. Neither do the findings of the meta-analysis.

  10. Childhood Leukemia

    Science.gov (United States)

    ... acute types. Symptoms include Infections Fever Loss of appetite Tiredness Easy bruising or bleeding Swollen lymph nodes Night sweats Shortness of breath Pain in the bones or joints Risk factors for childhood leukemia include having a brother ...

  11. Differences in disease features between childhood-onset and adult-onset systemic lupus erythematosus patients presenting with acute abdominal pain.

    Science.gov (United States)

    Tu, Yu-Ling; Yeh, Kuo-Wei; Chen, Li-Chen; Yao, Tsung-Chieh; Ou, Liang-Shiou; Lee, Wen-I; Huang, Jing-Long

    2011-04-01

    Abdominal pain in systemic lupus erythematosus (SLE) patients has rarely been analyzed in pediatric populations. We planned to investigate the potential differences between childhood-onset and adult-onset SLE patients who were hospitalized because of acute abdominal pain. A retrospective study including 23 childhood-onset SLE patients with 38 admissions and 88 adult-onset SLE patients with 108 admissions from 1999 to 2008 were conducted in our hospital. All of them had the chief complaint of diffuse abdominal pain. The etiologies of acute abdominal pain in adult-onset SLE patients were more diverse than childhood-onset SLE patients. The most common cause of acute abdominal pain in SLE patients was lupus mesenteric vasculitis (LMV) (18.5%), followed by acute gastroenteritis (14.4%), pancreatitis (10.3%), appendicitis (7.5%), and cholecystitis (6.2%). Compared with adults, children were admitted more often due to LMV (31.6% versus 13.9%; P = 0.016), had more frequently recurrent episodes (39.1% versus 14.8%; P = 0.009), and were more often treated with immunosuppressive agents (31.6% versus 7.4%; P abdominal pain should be considered in SLE patients. LMV is the most common cause of acute abdomen in childhood-onset SLE patients with low mortality and morbidity provided by prompt diagnosis and timely administration of high-dose intravenous corticosteroids after excluding real surgical abdomen. Crown Copyright © 2011. Published by Elsevier Inc. All rights reserved.

  12. Computed Tomography in the Diagnosis of Myositis Ossificans – Case Report

    International Nuclear Information System (INIS)

    Nitek, Żaneta; Czwojdziński, Adam; Wolf-Kuś, Alicja; Walecki, Jerzy

    2014-01-01

    The term myositis ossificans refers to the formation of ossifications in the muscles, ligaments and fascias, usually as a result of trauma. Fibrodysplasia ossificans progressiva is a rare genetic disease in which heterotopic ossifications appear in early childhood and are accompanied by feet and spine defects. We present a case of a 31-year-old woman with massive heterotopic ossifications who suffered multiple injuries. We would like to emphasize the role of computed tomography in the exact localization of ossifications. Thanks to the volume rendering techniques and 3D image reconstructions, it is possible to precisely determine the position of ossifications in relation to the internal organs and blood vessels, allowing to schedule the surgery to remove the lesions

  13. Confirmation of childhood acute lymphoblastic leukemia variants, ARID5B and IKZF1, and interaction with parental environmental exposures.

    Directory of Open Access Journals (Sweden)

    Tiffany-Jane Evans

    Full Text Available Genome wide association studies (GWAS have established association of ARID5B and IKZF1 variants with childhood acute lymphoblastic leukemia (ALL. Epidemiological studies suggest that environmental factors alone appear to make a relatively minor contribution to disease risk. The polygenic nature of childhood ALL predisposition together with the timing of environmental triggers may hold vital clues for disease etiology. This study presents results from an Australian GWAS of childhood ALL cases (n = 358 and population controls (n = 1192. Furthermore, we utilised family trio (n = 204 genotypes to extend our investigation to gene-environment interaction of significant loci with parental exposures before conception, and child's sex and age. Thirteen SNPs achieved genome wide significance in the population based case/control analysis; ten annotated to ARID5B and three to IKZF1. The most significant SNPs in these regions were ARID5B rs4245595 (OR 1.63, CI 1.38-1.93, P = 2.13×10(-9, and IKZF1 rs1110701 (OR 1.69, CI 1.42-2.02, p = 7.26×10(-9. There was evidence of gene-environment interaction for risk genotype at IKZF1, whereby an apparently stronger genetic effect was observed if the mother took folic acid or if the father did not smoke prior to pregnancy (respective interaction P-values: 0.04, 0.05. There were no interactions of risk genotypes with age or sex (P-values >0.2. Our results evidence that interaction of genetic variants and environmental exposures may further alter risk of childhood ALL however, investigation in a larger population is required. If interaction of folic acid supplementation and IKZF1 variants holds, it may be useful to quantify folate levels prior to initiating use of folic acid supplements.

  14. Testing for myositis specific autoantibodies: Comparison between line blot and immunoprecipitation assays in 57 myositis sera.

    Science.gov (United States)

    Cavazzana, Ilaria; Fredi, Micaela; Ceribelli, Angela; Mordenti, Cristina; Ferrari, Fabio; Carabellese, Nice; Tincani, Angela; Satoh, Minoru; Franceschini, Franco

    2016-06-01

    To analyze the performance of a line blot assay for the identification of autoantibodies in sera of patients affected by myositis, compared with immunoprecipitation (IP) as gold standard. 66 sera of patients with myositis (23 polymyositis, 8 anti-synthetase syndromes, 29 dermatomyositis and 6 overlap syndromes) were tested by commercial LB (Euroimmun, Lubeck, Germany); 57 sera were analyzed also by IP of K562 cell extract radiolabeled with (35)S-methionine. Inter-rater agreement was calculated with Cohen's k coefficient. Myositis-specific antibodies (MSA) were detected in 36/57 sera (63%) by IP and in 39/66 sera (59%) by LB. The most frequent MSA found by LB were anti-Jo1 and anti-Mi2 found in 15% (10/66) of sera, followed by anti-NXP2 and anti-SRP detected in 106% (7/66) of sera. Anti-TIF1gamma and anti-MDA5 were found in 6 (9%) and 5 sera (7.6%), respectively. A good agreement between methods was found only for anti-TIF1γ, anti-MDA5 and anti-NXP-2 antibodies, while a moderate agreement was estimated for anti-Mi2 and anti-EJ. By contrast, a high discordance rate for the detection of anti-Jo1 antibodies was evident (k: 0.3). Multiple positivity for MSA were found in 11/66 (17%) by LB and 0/57 by IP (p: 0001). Comparing the clinical features of these 11 sera, we found total discrepancies between assays in 3 sera (27.3%), a relative discrepancy due to the occurrence of one discordant autoantibody (not confirmed by IP) in 5 cases (45.5%) and a total discrepancy between LB and IP results, but with a relative concordance with clinical features were found in other 3 sera (27.3%). The semiquantitative results do not support the interpretation of the data. The use of LB assay allowed the detection of new MSA, such as anti-MDA5, anti-MJ and anti-TIF1gamma antibodies, previously not found with routine methods. However, the high prevalence of multiple positivities and the high discondant rate of anti-Jo1 antibodies could create some misinterpretation of the results from the

  15. Necrotizing streptococcal myositis of the upper extremity: a case report.

    Science.gov (United States)

    Reichert, Johannes C; Habild, Götz; Simon, Paul; Nöth, Ulrich; Krümpelmann, Jan B

    2017-08-15

    Necrotizing myositis is a rare but life-threatening soft-tissue infection characterized by rapidly spreading inflammation and subsequent necrosis of the affected tissue. The myositis is often caused by toxin-producing, virulent bacteria such as group A β-hemolytic streptococcus and associated with severe systemic toxicity. It is rapidly fatal unless diagnosed promptly and treated aggressively. However, necrotizing myositis is often initially misdiagnosed as a more benign soft-tissue infection as such fulminant, invasive muscle infections are rare with no more than 30 cases reported over the last century. We illustrate the case of a 74-year-old male Caucasian initially presenting with a progressing swelling and gradually oncoming pain of the upper right extremity. Rapidly, livid discolorations of the skin, blisters, hypoesthesia and severe pain resistant to analgesics treatment developed accompanied by disruption of the arterial blood flow. Due to a manifest compartment syndrome the patient was admitted to theater for fasciotomy of the arm. After multiple revision surgeries wound closure was achieved using a pedicled, fasciocutaneous parascapular flap and a free, ipsilateral anterolateral thigh flap. Microbiological analysis revealed group A β-hemolytic streptococcus, histology a bacterial interstitial myositis with necrotic muscular fibers. A high degree of clinical suspicion is necessary to avert potentially disastrous consequences of necrotizing myositis. Timely diagnosis, broad-spectrum antibiotic therapy, and aggressive surgical debridement of affected tissue are keys to the treatment of this serious, often life-threatening infection.

  16. [Cytopathologic features of childhood acute leukemia at the Hospital de Especialidades Pediátricas, Chiapas, Mexico].

    Science.gov (United States)

    Lepe-Zúñiga, José Luis; Jerónimo-López, Francisco Javier; Hernández-Orantes, Jorge Gregorio

    Childhood acute leukemia cytological features are unknown in Chiapas, Mexico. Defining these features is important because this is a relatively isolated population with high consanguinity index, and these aspects could determine differences in responses to treatment and outcome. Eighty-one childhood acute leukemia cases treated at the Hospital de Especialidades Pediátricas in Chiapas were characterized by morphology, immunophenotype, genotype, initial risk assignment and status at the time of the study. The proportion of leukemic cell types found in this study was B cell, 75.3%; myeloid, 16%; T cell, 3.7% and NK 1.2%. In B cell leukemia, genetic alterations were present in 40.6% of cases and had a specific outcome regardless of initial risk assessment. Cases with MLL gene alteration died within a month from diagnosis. Translocations were present in 17.5% B cases; t(1;19) was present in those with a favorable outcome. The t(12;21) translocation was related to initial remission and midterm relapse and dead. Hyperdiploidy was present in 20% of B cell cases with good outcome. In 38.5%of myeloid cases were translocations and karyotypic abnormalities. Short-term outcome in this group has been poor; 69% have died or abandoned treatment in relapse from 15 days to 37 months after diagnosis. Relative frequency of different types of acute leukemia in patients treated at a tertiary level pediatric hospital in Chiapas, Mexico, was similar to the one found in other parts of the country. Patients' outcome, under a standardized treatment, differs according to the group, the subgroup and the presence and type of genetic alterations. Copyright © 2017 Hospital Infantil de México Federico Gómez. Publicado por Masson Doyma México S.A. All rights reserved.

  17. Decay-accelerating factor 1 deficiency exacerbates Trypanosoma cruzi-induced murine chronic myositis.

    Science.gov (United States)

    Solana, María E; Ferrer, María F; Novoa, María Mercedes; Song, Wen-Chao; Gómez, Ricardo M

    2012-10-01

    Murine infection with Trypanosoma cruzi (Tc) has been used to study the role of T-cells in the pathogenesis of human inflammatory idiopathic myositis. Absence of decay-accelerating factor 1 (Daf1) has been shown to enhance murine T-cell responses and autoimmunity. To determine whether Daf1 deficiency can exacerbate Tc-induced myositis, C57BL/6 DAF(+/+) and DAF(-/-) mice were inoculated with 5 × 10(4) trypomastigotes, and their morbidity, parasitemia, parasite burden, histopathology, and T-cell expansion were studied in the acute and chronic stages. DAF(-/-) mice had lower parasitemia and parasite burden but higher morbidity, muscle histopathology, and increased number of CD44(+) (activated/memory phenotype) splenic CD4(+) and CD8(+) T-cells. An enhanced CD8(+) T-cell immune-specific response may explain the lower parasitemia and parasite burden levels and the increase in histopathological lesions. We propose that Tc-inoculated DAF(-/-) mice are a useful model to study T-cell mediated immunity in skeletal muscle tissues. Copyright © 2012 Wiley Periodicals, Inc.

  18. Myositis ossificans circumscripta of the psoas muscle due to overuse in an adolescent gymnast.

    Science.gov (United States)

    Masquijo, Julio Javier; Sartori, Federico

    2014-11-01

    Myositis ossificans is a pseudoinflammatory tumour that originates from skeletal muscle and corresponds to a heterotopic, metaplastic, nonmalignant bone tumour. The purpose of this article is to report the case of myositis ossificans circumscripta (MOC) of the psoas muscle due to overuse in an adolescent gymnast. A 16-year-old female athlete presented at our outpatient orthopaedic clinic for evaluation of a 1-month history of low back pain. Initial plain radiographs were initially interpreted as negative, and laboratory values were normal. MRI imaging demonstrated a circumscribed mass with associated oedema in the psoas muscle. Computed tomography-guided percutaneous biopsy was performed and histology confirmed the diagnosis of MOC. Conservative treatment was initiated with rest and anti-inflammatory drugs (indomethacin). The patient had a resolution of pain and function after 3 months of conservative treatment. At 6 months' follow-up, MRI demonstrated complete resolution of the lesion and she gradually returned to her sports activity. At last follow-up she was asymptomatic. MOC is a rare lesion in the paediatric-adolescent population. To our knowledge, this is the first report of MOC in the psoas muscle produced by overuse. MRI is very sensitive in detecting oedema during the acute phase of the lesion. Conservative treatment should be considered, especially at the early stage of the disease. Spontaneous resolution can be expected in most cases.

  19. High-resolution Antibody Array Analysis of Childhood Acute Leukemia Cells

    Czech Academy of Sciences Publication Activity Database

    Kanderová, V.; Kuzilkova, D.; Stuchlý, J.; Vašková, M.; Brdička, Tomáš; Fišer, K.; Hrušák, O.; Lund-Johansen, F.; Kalina, T.

    2016-01-01

    Roč. 15, č. 4 (2016), s. 1246-1261 ISSN 1535-9476 R&D Projects: GA MŠk 2B06064 Institutional support: RVO:68378050 Keywords : acute lymphoblastic-leukemia * acute promyelocytic leukemia * cytometric immunobead assay * caspase-dependent cleavage * acute myeloid-leukemia * gene-expression * fusion proteins * flow-cytometry * pcr data * b-cells Subject RIV: EB - Genetics ; Molecular Biology Impact factor: 6.540, year: 2016

  20. Cognitive, behaviour, and academic functioning in adolescent and young adult survivors of childhood acute lymphoblastic leukaemia: a report from the Childhood Cancer Survivor Study.

    Science.gov (United States)

    Jacola, Lisa M; Edelstein, Kim; Liu, Wei; Pui, Ching-Hon; Hayashi, Robert; Kadan-Lottick, Nina S; Srivastava, Deokumar; Henderson, Tara; Leisenring, Wendy; Robison, Leslie L; Armstrong, Gregory T; Krull, Kevin R

    2016-10-01

    Survivors of childhood acute lymphoblastic leukaemia (ALL) are at risk for neurocognitive deficits that affect development in adolescence and young adulthood, and influence educational attainment and future independence. We examined a large and diverse cohort of survivors to identify risk predictors and modifiers of these outcomes. In this cohort study, cognitive and behaviour symptoms were assessed via a standardised parent questionnaire for 1560 adolescent survivors of ALL diagnosed between 1970 and 1999. Clinically significant symptoms (≥90th percentile) and learning problems were compared between survivors and a sibling cohort. Multivariable regression models were used to examine associations with demographic and treatment characteristics. Models were adjusted for inverse probability of sampling weights to reflect undersampling of ALL survivors in the expansion cohort. In a subset of survivors with longitudinal data (n=925), we examined associations between adolescent symptoms or problems and adult educational attainment. Compared with siblings, survivors treated with chemotherapy only were more likely to demonstrate headstrong behaviour (155 [19%] of 752 survivors vs 88 [14%] of 610 siblings, p=0·010), inattention-hyperactivity (15 [19%] vs 86 [14%], p4·3 g/m 2 ) conferred increased risk of inattention-hyperactivity (relative risk [RR] 1·53, 95% CI 1·13-2·08). Adolescent survivors with cognitive or behaviour problems and those with learning problems were less likely to graduate from college as young adults than adolescent survivors without cognitive or behaviour problems. Although modern therapy for childhood ALL has eliminated the use of cranial radiation therapy, adolescent survivors treated with chemotherapy only remain at increased risk for cognitive, behaviour, and academic problems that adversely affect adult education outcomes. National Cancer Institute, American Lebanese-Syrian Associated Charities. Copyright © 2016 Elsevier Ltd. All rights

  1. Pseudomalignant myositis ossificans involving multiple masticatory muscles: Imaging evaluation

    International Nuclear Information System (INIS)

    Kamalapur, Muralidhar G; Patil, Pritam B; Joshi, Shyamsundar; Shastri, Dinesh

    2014-01-01

    Myositis ossificans is a rare cause of trismus. We present a case of pseudomalignant myositis ossificans involving medial pterygoid, lateral pterygoid, and temporalis muscles. Patient presented with gross limitation in mouth opening. There was no history of trauma. Computed tomography (CT) images revealed a bone density mass located in the region of medial and lateral pterygoid muscles on the right and temporalis muscle on the left. Magnetic resonance imaging (MRI) showed similar findings. Radiological diagnosis was pseudomalignant myositis ossificans. The masses were resected and histopathologic examination confirmed the above diagnosis. This report describes the characteristic CT and MRI features. The unique feature of this case is the absence of history of trauma with involvement of multiple masticatory muscles, which, to the best of our knowledge, has not been reported before

  2. MASTICATORY MUSCLE MYOSITIS IN A GRAY WOLF (CANIS LUPUS).

    Science.gov (United States)

    Kent, Marc; Glass, Eric N; Castro, Fernando A; Miller, Andrew D; de Lahunta, Alexander

    2017-03-01

    A 10-yr-old male, neutered gray wolf ( Canis lupus ) was presented for atrophy of the temporalis and masseter muscles. Clinical signs and magnetic resonance imaging were consistent with a myopathy. Positive serology for antibody titers directed against Type 2M myofibers, and the observation of a mixed mononuclear inflammatory cell infiltrate along with eosinophils and neutrophils within the temporalis muscle, were diagnostic for masticatory muscle myositis. Importantly, protozoal myositis was excluded based on other clinicopathologic data. The case highlights the potential for immune-mediated polymyositis in canids other than the domesticated dog ( Canis lupus familaris). Additionally, awareness of a diet in which raw meat is used should prompt a thorough investigation for an underlying infectious myositis in the gray wolf.

  3. Myositis as the initial presentation of panarteritis nodosa.

    Science.gov (United States)

    Calvo, Romina; Negri, Melina; Ortiz, Alberto; Roverano, Susana; Paira, Sergio

    2017-07-26

    A 47-year-old man presented with weight loss, bilateral calf pain, fever, hypertension, orchitis and oligoarthritis. Lab tests: anemia and elevated muscle enzymes. Resonance magnetic imaging: hyperintensity in gastrocnemius muscles (myositis). Histologic exam of the muscles: inflammatory infiltrate with atrophy and perifascicular regeneration. methylprednisone (bolus) and cyclophosphamide. Muscle pain and swelling and difficulty in walking are common in panarteritis nodosa (PAN), whereas histologically demonstrated myositis is not. Even more rare is myositis as the initial presentation of this vasculitis. Copyright © 2017 Elsevier España, S.L.U. and Sociedad Española de Reumatología y Colegio Mexicano de Reumatología. All rights reserved.

  4. Myositis ossificans with atypical clinical, radiographic, or pathologic findings

    International Nuclear Information System (INIS)

    Nuovo, M.A.; Chumas, J.; Ackerman, L.V.

    1992-01-01

    Myositis ossificans is a relatively rare, well-defined entity. The 23 cases sent for consultation to two of us (L.V.A. and A. N.) were reviewed. Clinical, radiologic, and microscopic information was reexamined, and special attention was given to features infrequently seen in typical myositis ossificans. Due to the uncommon location of 15 lesions and an unusual presentation in 5, the correct diagnosis was not obvious in these cases. Radiologic studies raised the possibility of a malignant bone-forming tumor in at least three instances; myositis ossificans was originally diagnosed in 6 cases radiologically. In 8 cases, histologic evidence suggested malignancy, including osteosarcoma, either parosteal or extraosseous, in 6. Other diagnoses included epithelioid sarcoma and callus formation. Presentation of these variations from the norm highlights the importance of recognizing the evolution of a nonneoplastic fibro-osseous and cartilaginous entity in which conservative treatment is curative. (orig./GDG)

  5. Duration of adrenal insufficiency during treatment for childhood acute lymphoblastic leukemia

    DEFF Research Database (Denmark)

    Vestergaard, Therese Risom; Juul, Anders; Lausten-Thomsen, Ulrik

    2011-01-01

    Children with acute lymphoblastic leukemia (ALL) recive high doses of glucocorticosteroid as part of their treatment. This may lead to suppression of the hypothalamic-pituitary-adrenal axis, acute adrenal insufficiency, and ultimately to life-threatening conditions. This study explores the adrena...

  6. Renal, gastrointestinal, and hepatic late effects in survivors of childhood acute myeloid leukemia treated with chemotherapy only--a NOPHO-AML study

    DEFF Research Database (Denmark)

    Skou, Anne-Sofie; Glosli, Heidi; Jahnukainen, Kirsi

    2014-01-01

    BACKGROUND: We investigated the spectrum, frequency, and risk factors for renal, gastrointestinal, and hepatic late adverse effects in survivors of childhood acute myeloid leukemia (AML) without relapse treated with chemotherapy alone according to three consecutive AML trials by the Nordic Society...

  7. Relapsed childhood high hyperdiploid acute lymphoblastic leukemia: presence of preleukemic ancestral clones and the secondary nature of microdeletions and RTK-RAS mutations

    DEFF Research Database (Denmark)

    Davidsson, J; Paulsson, K; Lindgren, D

    2010-01-01

    Although childhood high hyperdiploid acute lymphoblastic leukemia is associated with a favorable outcome, 20% of patients still relapse. It is important to identify these patients already at diagnosis to ensure proper risk stratification. We have investigated 11 paired diagnostic and relapse samp...

  8. Relapsed childhood high hyperdiploid acute lymphoblastic leukemia: presence of preleukemic ancestral clones and the secondary nature of microdeletions and RTK-RAS mutations

    DEFF Research Database (Denmark)

    Davidsson, J; Paulsson, K; Lindgren, D

    2010-01-01

    Although childhood high hyperdiploid acute lymphoblastic leukemia is associated with a favorable outcome, 20% of patients still relapse. It is important to identify these patients already at diagnosis to ensure proper risk stratification. We have investigated 11 paired diagnostic and relapse...

  9. Cost-Effectiveness of Treatment of Childhood Acute Lymphoblastic Leukemia With Chemotherapy Only: The Influence of New Medication and Diagnostic Technology

    NARCIS (Netherlands)

    van Litsenburg, R.R.L.; Uyl-de Groot, C.A.; Raat, H.; Kaspers, G.J.L.; Gemke, R.J.B.J.

    2011-01-01

    Background: Survival for childhood acute lymphoblastic leukemia (ALL) has reached 80-90%. Future improvement in treatment success will involve new technologies and medication, adding to the pressure on limited financial resources. Therefore a retrospective cost-effectiveness analysis of ALL

  10. The Circadian Schedule for Childhood Acute Lymphoblastic Leukemia Maintenance Therapy does not Influence Event-Free Survival in the NOPHO ALL92 Protocol

    DEFF Research Database (Denmark)

    Clemmensen, Kim K. B.; Christensen, Regitse H.; Shabaneh, Diana N.

    2014-01-01

    BACKGROUND: The event-free survival of childhood acute lymphoblastic leukemia (ALL) has been reported to be superior when oral methotrexate (MTX) and 6-mercaptopurine (6MP) maintenance therapy (MT) is administered in the evening compared to the morning. PROCEDURE: In the ALL92 MT study we prospec...

  11. Reduction of adult height in childhood acute lymphoblastic leukemia survivors after prophylactic cranial irradiation

    NARCIS (Netherlands)

    Bongers, MEJ; Francken, AB; Rouwe, C; Kamps, WA; Postma, A

    Background. Impaired linear growth is a well-recognized complication in long-term childhood ALL survivors who received cranial irradiation. However, as many patients achieve a final height between the 5th and the 95th centile, the true incidence of linear growth impairment might be underestimated.

  12. Regional blood flow in experimental myositis ossificans

    International Nuclear Information System (INIS)

    Hierton, C.

    1983-01-01

    In a recent model for heterotopic bone formation, muscular oedema, swelling and necrosis is seen in the quadriceps muscle of rabbit hind limbs immobilized for at least 2 weeks when, from the second week, the immobilized limb is subjected to dayly forcible mobilization lasting about 5 min. According to this model, heterotopic calcification develops gradually from the second week of forcible mobilization and is located in the vastus intermedius region. Between the fourth and fifth week of immobilization and forcible mobilization, heterotopic bone formation is seen in virtually all cases. The histological findings are similar to those in human ectopic bone formation. In the present investigation the labelled microsphere technique was used to study the regional blood flow effects in the early development of myositis ossificans with this model. The results are quite different from those reported by other investigators on immobilization alone and point to a causal relation between regional blood flow and forcible mobilization of the immobilized rabbit hind limp. Prostaglandins as mediators between the traumatic inflammation, a part of the circulatory effects observed and the induction of a new bone is suggested. (author)

  13. Focal myositis of the thigh: unusual MR pattern

    International Nuclear Information System (INIS)

    Llauger, Jaume; Palmer, Jaume; San Roman, Luis; Bague, Silvia; Matias-Guiu, Xavier; Doncel, Antonio

    2002-01-01

    Focal myositis is a commonly referenced, infrequently reported and poorly documented benign inflammatory pseudotumor which may be misdiagnosed clinically as a malignant tumor. We report the clinicopathologic features and magnetic resonance imaging findings in a case of focal myositis in the thigh of a 55-year-old woman. A different radiologic presentation of this disorder is described. The gross appearance of the lesion, previously undescribed, appears to be rather specific for such a pseudoneoplastic disorder, and correlates very well with the magnetic resonance imaging features. (orig.)

  14. Myositis ossificans progressiva : a report of two cases

    Energy Technology Data Exchange (ETDEWEB)

    Kim, Eun Ah; Lee, Sun Wha [Ewha Womans Univ., Seoul (Korea, Republic of). Coll. of Medicine; Han, Tae Il [Kyung Hee University, Seoul (Korea, Republic of). Coll. of Medicine

    1997-12-01

    Myositis ossificans progressive is rare hereditable disorder characterized progressiva heterotopic bone formation in connective tissue and muscles in association with congenital skeletal anomalies. We report the plain radiologic and MR findings of myositis ossificants progressiva in two children. One case showed discrete ossification in the right buttock, neck, and both chest walls on plain radiographs, while the other showed diffuse swelling of the left posterior neck, back, and buttock muscles, which was demonstrated on MR images. Both case showed associated anomalies in the hands and feet. (author). 8 refs., 2 figs.

  15. Gallium uptake in myositis ossificans. Potential pitfalls in diagnosis

    International Nuclear Information System (INIS)

    Salzman, L.; Lee, V.W.; Grant, P.

    1987-01-01

    Seven cases of gallium uptake in myositis ossificans are described. Gallium scans are done frequently in paraplegics, quadriplegics, and comatose patients to look for occult infection. It is important to be aware of possible gallium uptake in myositis ossificans, particularly in the extremities, which is frequent in these patients. Gallium uptake may be present prior to any abnormalities seen on plain films or CT scans. It is important to correlate roentgenograms with abnormal gallium scans, particularly in the extremities, to avoid potential pitfalls in diagnosis and prevent unnecessary antibiotic treatment. A bone scan should be obtained whenever possible, particularly when roentgenograms are negative, to confirm the diagnosis

  16. Focal myositis of the thigh: unusual MR pattern

    Energy Technology Data Exchange (ETDEWEB)

    Llauger, Jaume; Palmer, Jaume; San Roman, Luis [Department of Radiology, Hospital de la Santa Creu i Sant Pau, Barcelona (Spain); Bague, Silvia; Matias-Guiu, Xavier [Department of Pathology, Hospital de la Santa Creu i Sant Pau, Barcelona (Spain); Doncel, Antonio [Department of Orthopedic Surgery, Hospital de la Santa Creu i Sant Pau, Barcelona (Spain)

    2002-05-01

    Focal myositis is a commonly referenced, infrequently reported and poorly documented benign inflammatory pseudotumor which may be misdiagnosed clinically as a malignant tumor. We report the clinicopathologic features and magnetic resonance imaging findings in a case of focal myositis in the thigh of a 55-year-old woman. A different radiologic presentation of this disorder is described. The gross appearance of the lesion, previously undescribed, appears to be rather specific for such a pseudoneoplastic disorder, and correlates very well with the magnetic resonance imaging features. (orig.)

  17. Sodium and chloride channelopathies with myositis: coincidence or connection?

    Science.gov (United States)

    Matthews, E.; Miller, J.A.L.; Macleod, M.R.; Ironside, J.; Ambler, G.; Labrum, R.; Sud, R.; Holton, J.L.; Hanna, M.G.

    2011-01-01

    Introduction A proximal myopathy develops in some patients with muscle channelopathies, but the causative molecular mechanisms are unknown. Methods We reviewed retrospectively all clinical and muscle biopsy findings of three patients with channelopathy and additional myositis. Direct DNA sequencing was performed. Results Pathogenic mutations were identified in each case. Biopsies illustrated inflammatory infiltrates. Conclusions Clinicians should consider muscle biopsy in channelopathy patients with severe myalgia and/or subacute weakness and accompanying elevated CK. Chance association of myositis and channelopathy is statistically unlikely. An alternative hypothesis suggests that inflammatory insults could contribute to myopathy in some patients. PMID:21698652

  18. Myositis ossificans progressiva : a report of two cases

    International Nuclear Information System (INIS)

    Kim, Eun Ah; Lee, Sun Wha; Han, Tae Il

    1997-01-01

    Myositis ossificans progressive is rare hereditable disorder characterized progressiva heterotopic bone formation in connective tissue and muscles in association with congenital skeletal anomalies. We report the plain radiologic and MR findings of myositis ossificants progressiva in two children. One case showed discrete ossification in the right buttock, neck, and both chest walls on plain radiographs, while the other showed diffuse swelling of the left posterior neck, back, and buttock muscles, which was demonstrated on MR images. Both case showed associated anomalies in the hands and feet. (author). 8 refs., 2 figs

  19. Anti-Erwinia asparaginase antibodies during treatment of childhood acute lymphoblastic leukemia and their relationship to outcome

    DEFF Research Database (Denmark)

    Albertsen, BK; Schmiegelow, Kjeld; Schrøder, Henrik

    2002-01-01

    PURPOSE: A case-control study was performed to determine whether patients who had been treated with Erwinia asparaginase as part of their treatment for childhood acute lymphoblastic leukemia (ALL) and who showed relapsed of their disease more often developed anti-asparaginase antibodies than...... (median follow-up 70 months). Anti- Erwinia asparaginase antibodies were measured (ELISA method) during maintenance therapy after asparaginase treatment (30,000 IU/m(2) daily for 10 days in all patients plus twice weekly for 2 weeks in intermediate-risk and high-risk ALL patients). RESULTS: The overall...... incidence of anti- Erwinia asparaginase antibodies was 8% (3 of 39 patients). There was no statistically significant difference in the incidence of antibody formation between patients who had suffered relapse (1 of 13) and those who had not (2 of 26). In two of the three patients who developed antibodies...

  20. DNA methylation for subtype classification and prediction of treatment outcome in patients with childhood acute lymphoblastic leukemia

    DEFF Research Database (Denmark)

    Milani, Lili; Lundmark, Anders; Kiialainen, Anna

    2010-01-01

    CpG sites in regulatory regions of 416 genes in cells from 401 children diagnosed with ALL. Hierarchical clustering of 300 CpG sites distinguished between T-lineage ALL and B-cell precursor (BCP) ALL and between the main cytogenetic subtypes of BCP ALL. It also stratified patients with high......Despite improvements in the prognosis of childhood acute lymphoblastic leukemia (ALL), subgroups of patients would benefit from alternative treatment approaches. Our aim was to identify genes with DNA methylation profiles that could identify such groups. We determined the methylation levels of 1320...... hyperdiploidy and t(12;21) ALL into 2 subgroups with different probability of relapse. By using supervised learning, we constructed multivariate classifiers by external cross-validation procedures. We identified 40 genes that consistently contributed to accurate discrimination between the main subtypes of BCP...

  1. DNA methylation for subtype classification and prediction of treatment outcome in patients with childhood acute lymphoblastic leukemia

    DEFF Research Database (Denmark)

    Milani, Lili; Lundmark, Anders; Kiialainen, Anna

    2010-01-01

    Despite improvements in the prognosis of childhood acute lymphoblastic leukemia (ALL), subgroups of patients would benefit from alternative treatment approaches. Our aim was to identify genes with DNA methylation profiles that could identify such groups. We determined the methylation levels of 1320...... CpG sites in regulatory regions of 416 genes in cells from 401 children diagnosed with ALL. Hierarchical clustering of 300 CpG sites distinguished between T-lineage ALL and B-cell precursor (BCP) ALL and between the main cytogenetic subtypes of BCP ALL. It also stratified patients with high...... ALL and gene sets that discriminated between subtypes of ALL and between ALL and controls in pairwise classification analyses. We also identified 20 individual genes with DNA methylation levels that predicted relapse of leukemia. Thus, methylation analysis should be explored as a method to improve...

  2. Current status of total body irradiation in conditioning regimen for childhood acute lymphoblastic leukemia. Survey in the Japan Association of Childhood Leukemia Study (JACLS) Group

    International Nuclear Information System (INIS)

    Suzuki, Nobuhiro; Hara, Jun-ichi; Chayama, Kohsuke; Akiyama, Yuichi; Nakahata, Tatsutoshi

    2005-01-01

    We surveyed methods of total body irradiation (TB I) in conditioning regimens of stem cell transplantation (SCT) for children with acute lymphoblastic leukemia (ALL) at participating institutions of the Japan Association of Childhood Leukemia Study (JACLS) ALL-97 protocol. We obtained information about TBI from 25 institutions. Total dose of 12 Gy fractionated by four to six in two to three days for TBI was conducted in 22 of 25 institutions. High-risk patients, such as patients with Philadelphia positive ALL, received over 12 Gy in five institutions. Beam direction and patient's positioning were horizontal and lateral respectively in 15 institutions. Shielding of lung and/or eyes and boost irradiation to central nervous system and/or testis were done in 24 and 11 institutions respectively, but in various ways. We have to keep in mind that a great variety of TBI have been undergone in each institution when we intend to interpret multi-institutional trials of treatment including SCT for patients with ALL. (author)

  3. Genetic variation in the extended major histocompatibility complex and susceptibility to childhood acute lymphoblastic leukemia: a review of the evidence

    Directory of Open Access Journals (Sweden)

    Kevin Y Urayama

    2013-12-01

    Full Text Available The enduring suspicion that infections and immunologic response may play a role in the etiology of childhood leukemia, particularly acute lymphoblastic leukemia (ALL, is now supported, albeit still indirectly, by numerous epidemiological studies. The cumulative evidence includes, for example, descriptive observations of a peculiar peak incidence at age 2-5 years for ALL in economically developed countries, clustering of cases in situations of population mixing associated with unusual patterns of personal contacts, associations with various proxy measures for immune modulatory exposures early in life, and genetic susceptibility conferred by variation in genes involved in the immune system. In this review, our focus is the extended major histocompatibility complex (xMHC, an approximately 7.6 megabase region that is well-known for its high density of expressed genes, extensive polymorphisms exhibiting complex linkage disequilibrium patterns, and its disproportionately large number of immune-related genes, including human leukocyte antigen (HLA. First discovered through the role they play in transplant rejection, the classical HLA class I (HLA-A, -B, and -C and class II (HLA-DR, HLA-DQ, and HLA-DP molecules reside at the epicenter of the immune response pathways and are now the targets of many disease susceptibility studies, including those for childhood leukemia. The genes encoding the HLA molecules are only a minority of the over 250 expressed genes in the xMHC, and a growing number of studies are beginning to evaluate other loci through targeted investigations or utilizing a mapping approach with a comprehensive screen of the entire region. Here, we review the current epidemiologic evidence available to date regarding genetic variation contained within this highly unique region of the genome and its relationship with childhood ALL risk.

  4. Translational profiling in childhood acute lymphoblastic leukemia: no evidence for glucocorticoid regulation of mRNA translation.

    Science.gov (United States)

    Aneichyk, Tatsiana; Bindreither, Daniel; Mantinger, Christine; Grazio, Daniela; Goetsch, Katrin; Kofler, Reinhard; Rainer, Johannes

    2013-12-01

    Glucocorticoids (GCs) are natural stress induced steroid hormones causing cell cycle arrest and cell death in lymphoid tissues. Therefore they are the central component in the treatment of lymphoid malignancies, in particular childhood acute lymphoblastic leukemia (chALL). GCs act mainly via regulating gene transcription, which has been intensively studied by us and others. GC control of mRNA translation has also been reported but has never been assessed systematically. In this study we investigate the effect of GCs on mRNA translation on a genome-wide scale. Childhood T- (CCRF-CEM) and precursor B-ALL (NALM6) cells were exposed to GCs and subjected to "translational profiling", a technique combining sucrose-gradient fractionation followed by Affymetrix Exon microarray analysis of mRNA from different fractions, to assess the translational efficiency of the expressed genes. Analysis of GC regulation in ribosome-bound fractions versus transcriptional regulation revealed no significant differences, i.e., GC did not entail a significant shift between ribosomal bound and unbound mRNAs. In the present study we analyzed for the first time possible effects of GC on the translational efficiency of expressed genes in two chALL model systems employing whole genome polysome profiling. Our results did not reveal significant differences in translational efficiency of expressed genes thereby arguing against a potential widespread regulatory effect of GCs on translation at least in the investigated in vitro systems.

  5. High resolution melting curve analysis, a rapid and affordable method for mutation analysis in childhood acute myeloid leukemia

    Directory of Open Access Journals (Sweden)

    Yin eLiu

    2014-09-01

    Full Text Available Background: Molecular genetic alterations with prognostic significance have been described in childhood acute myeloid leukemia (AML. The aim of this study was to establish cost-effective techniques to detect mutations of FMS-like tyrosine kinase 3 (FLT3, Nucleophosmin 1 (NPM1, and a partial tandem duplication within the mixed lineage leukemia (MLL-PTD genes in childhood AML. Procedure: Ninety-nine children with newly diagnosed AML were included in this study. We developed a fluoresent dye SYTO-82 based high resolution melting curve (HRM anaylsis to detect FLT3 internal tandem duplication (FLT3-ITD, FLT3 tyrosine kinase domain (FLT3-TKD and NPM1 mutations. MLL-PTD was screened by real-time quantitative PCR. Results: The HRM methodology correlated well with gold standard Sanger sequencing with less cost. Among the 99 patients studied, the FLT3-ITD mutation was associated with significantly worse event free survival (EFS. Patients with the NPM1 mutation had significantly better EFS and overall survival. However, HRM was not sensitive enough for minimal residual disease monitoring. Conclusions: HRM was a rapid and efficient method for screening of FLT3 and NPM1 gene mutations. It was both affordable and accurate, especially in resource underprivileged regions. Our results indicated that HRM could be a useful clinical tool for rapid and cost effective screening of the FLT3 and NPM1 mutations in AML patients.

  6. Genomics in childhood acute myeloid leukemia comes of age | Office of Cancer Genomics

    Science.gov (United States)

    TARGET investigator’s study of nearly 1,000 pediatric acute myeloid leukemia (AML) cases reveals marked differences between the genomic landscapes of pediatric and adult AML and offers directions for future work.

  7. Effect of azole antifungal therapy on vincristine toxicity in childhood acute lymphoblastic leukaemia

    NARCIS (Netherlands)

    Schie, R.M. van; Bruggemann, R.J.M.; Hoogerbrugge, P.M.; Loo, D.M. te

    2011-01-01

    BACKGROUND: Vincristine is one of the cornerstones of the treatment of children with acute lymphoblastic leukaemia (ALL). Constipation, and peripheral and central neurotoxicities are the most common side effects. A comparative study exploring vincristine toxicity in individual patients receiving

  8. Resistance to different classes of drugs is associated with impaired apoptosis in childhood acute lymphoblastic leukemia

    NARCIS (Netherlands)

    A. Holleman (Amy); M.L. den Boer (Monique); K.M. Kazemier (Karin); G.E. Janka-Schaub (Gritta); R. Pieters (Rob)

    2003-01-01

    textabstractResistance of leukemic cells to chemotherapeutic agents is associated with an unfavorable outcome in pediatric acute lymphoblastic leukemia (ALL). To investigate the underlying mechanisms of cellular drug resistance, the activation of various apoptotic parameters in

  9. Inflammatory focal myositis of the sternomastoid muscle: is there an absolute indication for biopsy? A case report and review of the literature

    NARCIS (Netherlands)

    Georgalas, Christos; Kapoor, Lekha; Chau, Ha; Bhattacharyya, Abir

    2006-01-01

    Focal myositis is a localised inflammatory process affecting skeletal muscles belonging to the pathological group of inflammatory pseudo tumours of soft tissue that includes myositis ossificans, proliferative myositis and nodular pseudosarcomatous fasciitis. Very rarely, it may affect one of the

  10. Family characteristics as risk factors for childhood acute lymphoblastic leukemia: a population-based case-control study.

    Directory of Open Access Journals (Sweden)

    Martin Feller

    Full Text Available BACKGROUND: To date, few risk factors for childhood acute lymphoblastic leukemia (ALL have been confirmed and the scientific literature is full of controversial "evidence." We examined if family characteristics, particularly maternal and paternal age and number of older siblings, were risk factors for childhood acute lymphoblastic leukemia (ALL. METHODOLOGY/PRINCIPAL FINDINGS: In this population-based nationwide matched case-control study, patients 0-14 years of age with ALL diagnosed 1991-2006 and registered in the Swiss Childhood Cancer Registry were linked with their census records of 1990 and 2000. Eight controls per case were selected from the census. The association between family characteristics and ALL was analyzed by conditional logistic regressions. We found that increasing maternal age was associated with incidence of ALL in the offspring (OR per 5-year increase in maternal age 1.18, 95% CI 1.05-1.31; p = 0.004, remaining stable (trend OR 1.14, 95% CI 0.99-1.31; p = 0.060 after adjustment for other risk factors. The association with paternal age was weaker (OR per 5-year increase 1.14, 95% CI 1.01-1.28, p = 0.032 and disappeared after adjustments. Number of older siblings was not associated with risk of ALL in the overall group of children aged 0-14 years at diagnosis. However, we found a negative trend between number of older siblings and ALL diagnosed at age 0-4 years (OR per sibling 0.85, 95% CI 0.68-1.06; p = 0.141 and a positive trend for ALL diagnosed at age 5-9 (OR 1.34, 95% CI 1.05-1.72; p = 0.019, with some evidence for an effect modification (p-value for interaction  = 0.040. CONCLUSIONS: As in other studies, increasing maternal, but not paternal age was associated with risk of ALL. We found only a weak association with the number of older siblings, suggesting a delay in disease manifestation rather than a decrease in incidence.

  11. Associated Variables of Myositis in Systemic Lupus Erythematosus: A Cross-Sectional Study.

    Science.gov (United States)

    Liang, Yan; Leng, Rui-Xue; Pan, Hai-Feng; Ye, Dong-Qing

    2017-05-26

    BACKGROUND This study aimed to estimate the point prevalence of myositis and identify associated variables of myositis in systemic lupus erythematosus (SLE). MATERIAL AND METHODS Clinical date of patients hospitalized with lupus at the First Affiliated Hospital of Anhui Medical University and Anhui Provincial Hospital were collected. Patients were defined as having myositis if they reported the presence of persistent invalidating muscular weakness combined with increased levels of creatine phosphokinase (CPK) and abnormal electromyography (EMG). RESULTS The study sample comprised 1701 lupus patients, of which 44 had myositis. Patients with SLE-associated myositis are more likely to have skin rash, alopecia, pericarditis, vasculitis, anti-Sm, anti-RNP, anti-dsDNA, thrombocytopenia, leukopenia, low C3, low C4, high erythrocyte sedimentation rate (ESR), high D-dimer, and active disease. Multivariate logistic regression found positive associations between leukopenia, alopecia, and active disease with myositis. Negative associations between myositis with the use of corticosteroids or immunosuppressive drugs were revealed in univariate and multivariate analysis. CONCLUSIONS The point prevalence of myositis was 2.6% in SLE patients. The significant association of alopecia, leukopenia, and active disease with myositis suggests that organ damage, hematological abnormality, and high disease activity promote the progression of myositis in lupus patients.

  12. Brucellosis presenting as piriformis myositis: a case report

    Directory of Open Access Journals (Sweden)

    Romanos Odysseas

    2011-03-01

    Full Text Available Abstract Introduction Myositis is a rare bacterial muscle infection. Involvement of the piriformis muscle has been rarely reported in the literature. In this report we describe a case of piriformis myositis due to Brucella melitensis, which to the best of our knowledge is the first such case presented in the literature. Case presentation We report the case of a 19-year-old Caucasian man who presented to our institution with fever and right hip pain. Brucellosis was suspected, but the clinical suspicion was for spondylodiscitis. A pelvic magnetic resonance imaging scan allowed prompt diagnosis of inflammatory involvement of the right piriformis muscle. Blood culture results were positive for B. melitensis. Our patient was treated with antibiotics, and follow-up magnetic resonance imaging scans showed resolution of the inflammation. Conclusion Brucellosis can present as piriformis myositis. The clinical diagnosis of piriformis myositis is difficult, as it can mimic other common entities such as referred back pain from spondylodiscitis. Magnetic resonance imaging is the method of choice for establishing the diagnosis in the early stages of the disease, as late diagnosis can lead to abscess formation and the need for drainage.

  13. Oval pulsed high-dose dexamethasone for myositis

    NARCIS (Netherlands)

    Hoogendijk, JE; Wokke, JHJ; de Visser, M

    To study the short-term effect of oral pulsed high-dose dexamethasone for myositis we treated eight newly diagnosed patients with three 28-day cycles of oral dexamethasone. Primary outcome measures were muscle strength, pain, and serum creatine kinase activity. Sis patients responded. Side effects

  14. Management of a femoral fracture complicated by clostridial myositis

    International Nuclear Information System (INIS)

    Thomson, M.J.; Eger, C.E.

    1997-01-01

    A clinical case of clostridial myositis secondary to a comminuted femoral fracture is described. This case is unusual because, despite the severe degree of obvious muscle necrosis and gas production, the dog had minimal signs of systemic toxicity. Union of the fracture was achieved but six months postoperatively muscular contracture had resulted in permanent stifle extension

  15. Myositis Ossificans in a 4-year-old Child

    Directory of Open Access Journals (Sweden)

    HW Boon

    2010-11-01

    Full Text Available Sprengel’s shoulder and myositis ossificans (MO are rarely seen concomitantly. This report is about a rare case in a 4 year-old girl who presented with right shoulder deformity and pain associated with right proximal arm swelling.

  16. Physical function and muscle strength in sporadic inclusion body myositis

    DEFF Research Database (Denmark)

    Jørgensen, Anders N; Aagaard, Per; Nielsen, Jakob L

    2017-01-01

    INTRODUCTION: In this study, self-reported physical function, functional capacity, and isolated muscle function were investigated in sporadic inclusion body myositis (sIBM) patients. METHODS: The 36-item Short Form (SF-36) Health Survey and 2-min walk test (2MWT), timed up & go test (TUG), and 30-s...

  17. Oral pulsed high-dose dexamethasone for myositis

    NARCIS (Netherlands)

    van der Meulen, M. F.; Hoogendijk, J. E.; Wokke, J. H.; de Visser, M.

    2000-01-01

    To study the short-term effect of oral pulsed high-dose dexamethasone for myositis we treated eight newly diagnosed patients with three 28-day cycles of oral dexamethasone. Primary outcome measures were muscle strength, pain, and serum creatine kinase activity. Six patients responded. Side effects

  18. Update on the pharmacological treatment of adult myositis.

    Science.gov (United States)

    Oddis, C V

    2016-07-01

    The management of patients with idiopathic inflammatory myopathy (IIM) remains a challenge given the systemic features beyond active myositis. That is, recognizing the inflammatory arthropathy, varying dermatomyositis rashes, and overt and occult features of interstitial lung disease in addition to myositis adds to the complexity of diagnosis and treatment of IIM. However, clinicians now have available many more immunosuppressive drugs as well as biologic agents for use in patients with myositis and other autoimmune diseases. Here, the use of these agents is reviewed and support based on available published literature is provided even though many studies have been small and results somewhat anecdotal. Glucocorticoids remain the initial treatment of choice in most instances and methotrexate and azathioprine are often used early in the treatment course. These agents are followed by other immunosuppressive drugs, for example mycophenolate mofetil, tacrolimus, cyclosporine and cyclophosphamide, some of which are used alone while combinations of these agents also provide an effective option. There is more rationale for the use of biologic agents such as rituximab from a mechanistic perspective and, given the incorporation of validated core set measures in assessing myositis patients, we can look forward to better designed clinical trials in the future. © 2016 The Association for the Publication of the Journal of Internal Medicine.

  19. [The practice guideline 'Dermatomyositis, polymyositis and sporadic inclusion body myositis'

    NARCIS (Netherlands)

    Hoogendijk, J.E.; Bijlsma, J.W.J.; Engelen, B.G.M. van; Lindeman, E.J.M.; Royen-Kerkhof, A. van; Rie, M.A. de; Visser, M. de; Jennekens, F.G.I.

    2005-01-01

    This guideline presents recommendations for the diagnosis and treatment of dermatomyositis, polymyositis and sporadic inclusion body myositis (sIBM) according to the best available evidence. Characteristic skin abnormalities can be sufficient for the diagnosis of dermatomyositis. In case of doubt, a

  20. Richtlijn 'dermatomyositis, polymyositis en sporadische "inclusion body"-myositis'

    NARCIS (Netherlands)

    Hoogendijk, J. E.; Bijlsma, J. W. J.; van Engelen, B. G. M.; Lindeman, E.; van Royen-Kerkhof, A.; de Rie, M. A.; de Visser, M.; Jennekens, F. G. I.

    2005-01-01

    This guideline presents recommendations for the diagnosis and treatment of dermatomyositis, polymyositis and sporadic inclusion body myositis (sIBM) according to the best available evidence. Characteristic skin abnormalities can be sufficient for the diagnosis of dermatomyositis. In case of doubt, a

  1. Plasma Exchange for Refractory MDA5 Myositis and ILD

    Science.gov (United States)

    2017-04-26

    plasma exchange, the patient had improvement of hypocarbic respiratory alkalosis and reversal of myositis with resolution of dysphagia/odynophagia and...symptoms with respiratory distress. A five day course of plasmapheresis was initiated on hospital day eight. Subsequently his respiratory acid-base

  2. Outcome of allogeneic hematopoietic stem cell transplantation for childhood acute lymphoblastic leukemia in second complete remission: a single institution study

    Directory of Open Access Journals (Sweden)

    Eun-Jung Lee

    2012-03-01

    Full Text Available Purpose : The survival rate for childhood acute lymphoblastic leukemia (ALL has improved significantly. However, overall prognosis for the 20 to 25% of patients who relapse is poor, and allogeneic hematopoietic stem cell transplantation (HSCT offers the best chance for cure. In this study, we identified significant prognostic variables by analyzing the outcomes of allogeneic HSCT in ALL patients in second complete remission (CR. Methods : Fifty-three ALL patients (42 men, 79% who received HSCT in second CR from August 1991 to February 2009 were included (26 sibling donor HSCTs, 49%; 42 bone marrow transplantations, 79%. Study endpoints included cumulative incidence of acute and chronic graft-versus-host disease (GVHD, relapse, 1-year transplant-related mortality (TRM, disease-free survival (DFS, and overall survival (OS. Results : Cumulative incidences of acute GVHD (grade 2 or above and chronic GVHD were 45.3% and 28.5%, respectively. The estimated 5-year DFS and OS for the cohort was 45.2¡?#?.8%; and 48.3¡?#?%,; respectively. Only donor type, i.e., sibling versus unrelated, showed significant correlation with DFS in multivariate analysis (P=0.010. The rates of relapse and 1 year TRM were 28.9¡?#?.4%; and 26.4¡?#?.1%;, respectively, and unrelated donor HSCT (P=0.002 and HLA mismatch (P =0.022 were significantly correlated with increased TRM in univariate analysis. Conclusion : In this single institution study spanning more than 17 years, sibling donor HSCT was the only factor predicting a favorable result in multivariate analysis, possibly due to increased TRM resulting from unrelated donor HSCT.

  3. Quality of health in survivors of childhood acute myeloid leukemia treated with chemotherapy only

    DEFF Research Database (Denmark)

    Molgaard-Hansen, Lene; Glosli, Heidi; Jahnukainen, Kirsi

    2011-01-01

    More than 60% of children with acute myeloid leukemia (AML) become long-term survivors, and approximately 50% are cured with chemotherapy only. Limited data exist about their long-term morbidity and social outcomes. The aim of the study was to compare the self-reported use of health care services...

  4. Pubertal development and fertility in survivors of childhood acute myeloid leukemia treated with chemotherapy only

    DEFF Research Database (Denmark)

    Molgaard-Hansen, Lene; Skou, Anne-Sofie; Juul, Anders

    2013-01-01

    More than 60% of children with acute myeloid leukemia (AML) become long-term survivors. Most are cured using chemotherapy without hematopoietic stem cell transplantation (HSCT). We report on pubertal development and compare self-reported parenthood among AML survivors and their siblings....

  5. Childhood Acute Lymphoblastic Leukemia Treatment (PDQ®)—Health Professional Version

    Science.gov (United States)

    For acute lymphoblastic leukemia (ALL), the 5-year survival rate has improved significantly since 1975. Get information about risk factors, signs, diagnosis, molecular features, survival, risk-based treatment assignment, and induction and postinduction therapy for children and adolescents with newly diagnosed and recurrent ALL.

  6. Prediction of immunophenotype, treatment response, and relapse in childhood acute lymphoblastic leukemia using DNA microarrays

    DEFF Research Database (Denmark)

    Willenbrock, Hanni; Juncker, Agnieszka; Schmiegelow, K.

    2004-01-01

    Gene expression profiling is a promising tool for classification of pediatric acute lymphoblastic leukemia ( ALL). We analyzed the gene expression at the time of diagnosis for 45 Danish children with ALL. The prediction of 5-year event-free survival or relapse after treatment by NOPHO-ALL92 or 2000...

  7. Symptom Differences in Acute and Chronic Presentation of Childhood Post-Traumatic Stress Disorder.

    Science.gov (United States)

    Famularo, Richard; And Others

    1990-01-01

    Twenty-four child abuse victims, age 5-13, were diagnosed with posttraumatic stress disorder (PTSD). Children with the acute form of PTSD exhibited such symptoms as difficulty falling asleep, hypervigilance, nightmares, and generalized anxiety. Children exhibiting chronic PTSD exhibited increased detachment, restricted range of affect,…

  8. Apoptosis induction by Maackia amurensis agglutinin in childhood acute lymphoblastic leukemic cells

    DEFF Research Database (Denmark)

    Kapoor, Sarika; Marwaha, Ram; Majumdar, Siddhartha

    2007-01-01

    acute lymphoblastic leukemia (ALL) as compared to cells from children with non-hematological disorders ("Controls"). MAA recognized a 66 kDa sialoglycoprotein present in membrane fraction of ALL cells. Moreover, MAA induced apoptosis in ALL cells was found to be reduced significantly in presence of GM2...

  9. Hyperglycemia during induction therapy is associated with increased infectious complications in childhood acute lymphocytic leukemia

    Science.gov (United States)

    Children with acute lymphocytic leukemia (ALL) are at high risk for developing hyperglycemia. Hyperglycemic adult ALL patients have shorter remissions, more infections, and increased mortality. No corresponding data are available in children. We hypothesized that children with ALL who become hypergl...

  10. The role of ABC-transporters in childhood and adult acute lymphoblastic leukemia

    NARCIS (Netherlands)

    Plasschaert, Sabine Louise Anne

    2005-01-01

    Acute lymphoblastic leukemia is a disease characterized by an uncontrolled proliferation and maturation arest of lymphoid progenitor cells in the bone marrow, resulting in an excesso f malignant cells. The disease has a peak incidence between the age of 2-5 years, and a low and steady rise from the

  11. Measures of 6-mercaptopurine and methotrexate maintenance therapy intensity in childhood acute lymphoblastic leukemia

    DEFF Research Database (Denmark)

    Nielsen, Stine Nygaard; Grell, Kathrine; Nersting, Jacob

    2016-01-01

    PURPOSE: Normal white blood cell counts (WBC) are unknown in children with acute lymphoblastic leukemia (ALL). Accordingly, 6-mercaptopurine (6MP) and methotrexate (MTX) maintenance therapy is adjusted by a common WBC target of 1.5-3.0 × 10(9)/L. Consequently, the absolute degree...

  12. Consensus definitions of 14 severe acute toxic effects for childhood lymphoblastic leukaemia treatment

    DEFF Research Database (Denmark)

    Schmiegelow, K.; Attarbaschi, Andishe; Barzilai, Shlomit

    2016-01-01

    Although there are high survival rates for children with acute lymphoblastic leukaemia, their outcome is often counterbalanced by the burden of toxic effects. This is because reported frequencies vary widely across studies, partly because of diverse definitions of toxic effects. Using the Delphi ...

  13. Late cardiac effects of anthracycline containing therapy for childhood acute lymphoblastic leukemia

    DEFF Research Database (Denmark)

    Rathe, Mathias; Carlsen, Niels L T; Oxhøj, Henrik

    2007-01-01

    At present about 80% of children with acute lymphoblastic leukemia (ALL) will be cured following treatment with multi-drug chemotherapy. A major concern for this growing number of survivors is the risk of late effects of treatment. The aim of this study was to determine whether signs...

  14. The effect of central nervous system involvement and irradiation in childhood acute lymphoblastic leukemia

    DEFF Research Database (Denmark)

    Taskinen, Mervi; Oskarsson, Trausti; Levinsen, Mette

    2017-01-01

    BACKGROUND: Central nervous system irradiation (CNS-RT) has played a central role in the cure of acute lymphoblastic leukemia (ALL), but due to the risk of long-term toxicity, it is now considered a less-favorable method of CNS-directed therapy. PROCEDURES: Retrospectively, we estimated the effect...

  15. Screening for acute childhood malnutrition during the National Nutrition Week in mali increases treatment referrals.

    Directory of Open Access Journals (Sweden)

    Daniele H Nyirandutiye

    Full Text Available OBJECTIVE: To evaluate a pilot intervention designed to integrate mid-upper arm circumference (MUAC screening for acute malnutrition into the semi-annual Child Nutrition Week (Semaine d'Intensification des Activités de Nutrition, or "SIAN" activities carried out in June 2008. DESIGN: A cross-sectional survey was conducted in Kolokani and Nara, two health districts in the Koulikoro region of Mali, 4-5 months after the SIAN, using a population-proportionate, multi-stage random sample of: 1 health centers, and 2 households in communities linked to each of the selected health centers. Caregivers of 1543 children who were 6-59 months of age at the time of the SIAN, 17 community-based volunteers and 45 health center staff members were interviewed. RESULTS: A total of 1278 children 6-59 months (83% of those studied reportedly participated in SIAN. Of the participating children, 1258 received vitamin A (98% of SIAN participants; 82% of all eligible children, 945 received anti-helminth tablets (84% of participants; 71% of eligibles, and 669 were screened for acute malnutrition (52% of participants; 43% of eligibles. 186 of the children screened (27% were reportedly identified as acutely malnourished. SIAN screening covered a significantly greater proportion of children than were examined in both community-based (22% of children and health center-based screening activities (5% of children combined during the 4-5 months after the SIAN (P<0.0001. In general, community volunteers and health personnel positively evaluated their experience adding MUAC screening to SIAN. CONCLUSION: Integrating MUAC screening for acute malnutrition in SIAN permits the assessment of a large number of children for acute malnutrition, and should be continued.

  16. Screening for Acute Childhood Malnutrition during the National Nutrition Week in Mali Increases Treatment Referrals

    Science.gov (United States)

    Nyirandutiye, Daniele H.; Ag Iknane, Akory; Fofana, Amadou; Brown, Kenneth H.

    2011-01-01

    Objective To evaluate a pilot intervention designed to integrate mid-upper arm circumference (MUAC) screening for acute malnutrition into the semi-annual Child Nutrition Week (Semaine d'Intensification des Activités de Nutrition, or “SIAN”) activities carried out in June 2008. Design A cross-sectional survey was conducted in Kolokani and Nara, two health districts in the Koulikoro region of Mali, 4–5 months after the SIAN, using a population-proportionate, multi-stage random sample of: 1) health centers, and 2) households in communities linked to each of the selected health centers. Caregivers of 1543 children who were 6–59 months of age at the time of the SIAN, 17 community-based volunteers and 45 health center staff members were interviewed. Results A total of 1278 children 6–59 months (83% of those studied) reportedly participated in SIAN. Of the participating children, 1258 received vitamin A (98% of SIAN participants; 82% of all eligible children), 945 received anti-helminth tablets (84% of participants; 71% of eligibles), and 669 were screened for acute malnutrition (52% of participants; 43% of eligibles). 186 of the children screened (27%) were reportedly identified as acutely malnourished. SIAN screening covered a significantly greater proportion of children than were examined in both community-based (22% of children) and health center-based screening activities (5% of children) combined during the 4-5 months after the SIAN (P<0.0001). In general, community volunteers and health personnel positively evaluated their experience adding MUAC screening to SIAN. Conclusion Integrating MUAC screening for acute malnutrition in SIAN permits the assessment of a large number of children for acute malnutrition, and should be continued. PMID:21731602

  17. Asparaginase-associated pancreatitis in childhood acute lymphoblastic leukaemia: an observational Ponte di Legno Toxicity Working Group study.

    Science.gov (United States)

    Wolthers, Benjamin O; Frandsen, Thomas L; Baruchel, André; Attarbaschi, Andishe; Barzilai, Shlomit; Colombini, Antonella; Escherich, Gabriele; Grell, Kathrine; Inaba, Hiroto; Kovacs, Gábor; Liang, Der-Cherng; Mateos, Marion; Mondelaers, Veerle; Möricke, Anja; Ociepa, Tomasz; Samarasinghe, Sujith; Silverman, Lewis B; van der Sluis, Inge M; Stanulla, Martin; Vrooman, Lynda M; Yano, Michihiro; Zapotocka, Ester; Schmiegelow, Kjeld

    2017-09-01

    Survival for childhood acute lymphoblastic leukaemia surpasses 90% with contemporary therapy; however, patients remain burdened by the severe toxic effects of treatment, including asparaginase-associated pancreatitis. To investigate the risk of complications and risk of re-exposing patients with asparaginase-associated pancreatitis to asparaginase, 18 acute lymphoblastic leukaemia trial groups merged data for this observational study. Patient files from 26 trials run by 18 trial groups were reviewed on children (aged 1·0-17·9 years) diagnosed with t(9;22)-negative acute lymphoblastic leukaemia between June 1, 1996, and Jan 1, 2016, who within 50 days of asparaginase exposure developed asparaginase-associated pancreatitis. Asparaginase-associated pancreatitis was defined by at least two criteria: abdominal pain, pancreatic enzymes at least three times the upper limit of normal (ULN), and imaging compatible with pancreatitis. Patients without sufficient data for diagnostic criteria were excluded. Primary outcomes were defined as acute and persisting complications of asparaginase-associated pancreatitis and risk of re-exposing patients who suffered an episode of asparaginase-associated pancreatitis to asparaginase. Data were collected from Feb 2, 2015, to June 30, 2016, and analysed and stored in a common database at Rigshospitalet, Copenhagen, Denmark. Of 465 patients with asparaginase-associated pancreatitis, 33 (8%) of 424 with available data needed mechanical ventilation, 109 (26%) of 422 developed pseudocysts, acute insulin therapy was needed in 81 (21%) of 393, and seven (2%) of 458 patients died. Risk of assisted mechanical ventilation, need for insulin, pseudocysts, or death was associated with older age (median age for patients with complications 10·5 years [IQR 6·4-13·8] vs without complications 6·1 years [IQR 3·6-12·2], ppancreatitis, 31 (11%) of 275 patients still needed insulin or had recurrent abdominal pain or both. Both the risk of persisting

  18. Lateral rectus myositis mimicking an abducens nerve palsy in a pregnant woman.

    Science.gov (United States)

    Haslinda, Abd-Rahim; Shatriah, Ismail; Azhany, Yaakub; Nik-Ahmad-Zuky, Nik-Lah; Yunus, Rohaizan

    2014-01-01

    Myositis is a rare unknown inflammatory disorder of the skeletal muscle tissue. Generalized inflammatory myopathies, polymyositis, and dermatomyositis have been reported during pregnancy. Isolated orbital myositis in pregnancy has not been previously described in the literature. The authors report a case of left isolated orbital myositis in a primigravida at 38 weeks gestation affecting the patient's left lateral rectus muscle. MRI of the orbit was consistent with the diagnosis. She showed remarkable clinical improvement with oral corticosteroids therapy.

  19. Long-Term Effect of Cranial Radiotherapy on Pituitary-Hypothalamus Area in Childhood Acute Lymphoblastic Leukemia Survivors.

    Science.gov (United States)

    Follin, Cecilia; Erfurth, Eva Marie

    2016-09-01

    Survival rates of childhood cancer have improved markedly, and today more than 80 % of those diagnosed with a pediatric malignancy will become 5-year survivors. Nevertheless, survivors exposed to cranial radiotherapy (CRT) are at particularly high risk for long-term morbidity, such as endocrine insufficiencies, metabolic complications, and cardiovascular morbidity. Deficiencies of one or more anterior pituitary hormones have been described following therapeutic CRT for primary brain tumors, nasopharyngeal tumors, and following prophylactic CRT for childhood acute lymphoblastic leukemia (ALL). Studies have consistently shown a strong correlation between the total radiation dose and the development of pituitary deficits. Further, age at treatment and also time since treatment has strong implications on pituitary hormone deficiencies. There is evidence that the hypothalamus is more radiosensitive than the pituitary and is damaged by lower doses of CRT. With doses of CRT hypothalamus and this usually causes isolated GH deficiency (GHD). Higher doses (>50 Gy) may produce direct anterior pituitary damage, which contributes to multiple pituitary deficiencies. The large group of ALL survivors treated with CRT in the 70-80-ties has now reached adulthood, and these survivors were treated mainly with 24 Gy, and the vast majority of these patients suffer from GHD. Further, after long-term follow-up, insufficiencies in prolactin (PRL) and thyroid stimulating hormone (TSH) have also been reported and a proportion of these patients were also adrenocoticotrophic hormone (ACTH) deficient. CRT to the hypothalamus causes neuroendocrine dysfunction, which means that the choice of GH test is crucial for the diagnosis of GHD.

  20. Severe acute malnutrition in childhood: hormonal and metabolic status at presentation, response to treatment, and predictors of mortality.

    Science.gov (United States)

    Bartz, Sarah; Mody, Aaloke; Hornik, Christoph; Bain, James; Muehlbauer, Michael; Kiyimba, Tonny; Kiboneka, Elizabeth; Stevens, Robert; Bartlett, John; St Peter, John V; Newgard, Christopher B; Freemark, Michael

    2014-06-01

    Malnutrition is a major cause of childhood morbidity and mortality. To identify and target those at highest risk, there is a critical need to characterize biomarkers that predict complications prior to and during treatment. We used targeted and nontargeted metabolomic analysis to characterize changes in a broad array of hormones, cytokines, growth factors, and metabolites during treatment of severe childhood malnutrition. Children aged 6 months to 5 years were studied at presentation to Mulago Hospital and during inpatient therapy with milk-based formulas and outpatient supplementation with ready-to-use food. We assessed the relationship between baseline hormone and metabolite levels and subsequent mortality. Seventy-seven patients were enrolled in the study; a subset was followed up from inpatient treatment to the outpatient clinic. Inpatient and outpatient therapies increased weight/height z scores and induced striking changes in the levels of fatty acids, amino acids, acylcarnitines, inflammatory cytokines, and various hormones including leptin, insulin, GH, ghrelin, cortisol, IGF-I, glucagon-like peptide-1, and peptide YY. A total of 12.2% of the patients died during hospitalization; the major biochemical factor predicting mortality was a low level of leptin (P = .0002), a marker of adipose tissue reserve and a critical modulator of immune function. We have used metabolomic analysis to provide a comprehensive hormonal and metabolic profile of severely malnourished children at presentation and during nutritional rehabilitation. Our findings suggest that fatty acid metabolism plays a central role in the adaptation to acute malnutrition and that low levels of the adipose tissue hormone leptin associate with, and may predict, mortality prior to and during treatment.

  1. Psychological Impact of Chemotherapy for Childhood Acute Lymphoblastic Leukemia on Patients and Their Parents

    OpenAIRE

    Sherief, Laila M.; Kamal, Naglaa M.; Abdalrahman, Hadel M.; Youssef, Doaa M.; Alhady, Mohamed A Abd; Ali, Adel SA; Elbasset, Maha Aly Abd; Hashim, Hiatham M.

    2015-01-01

    Abstract To assess the self-esteem of pediatric patients on chemotherapy for acute lymphoblastic leukemia (ALL) and psychological status of their parents. The psychological status of 178 children receiving chemotherapy for ALL and their parents was assessed using parenting stress index (PSI) to determine the degree of stress the parents are exposed to using parent's and child's domains. Self-esteem Scale was used to determine the psychological status of patients. The study revealed significan...

  2. Screening for acute childhood malnutrition during the National Nutrition Week in mali increases treatment referrals.

    Science.gov (United States)

    Nyirandutiye, Daniele H; Ag Iknane, Akory; Fofana, Amadou; Brown, Kenneth H

    2011-01-01

    To evaluate a pilot intervention designed to integrate mid-upper arm circumference (MUAC) screening for acute malnutrition into the semi-annual Child Nutrition Week (Semaine d'Intensification des Activités de Nutrition, or "SIAN") activities carried out in June 2008. A cross-sectional survey was conducted in Kolokani and Nara, two health districts in the Koulikoro region of Mali, 4-5 months after the SIAN, using a population-proportionate, multi-stage random sample of: 1) health centers, and 2) households in communities linked to each of the selected health centers. Caregivers of 1543 children who were 6-59 months of age at the time of the SIAN, 17 community-based volunteers and 45 health center staff members were interviewed. A total of 1278 children 6-59 months (83% of those studied) reportedly participated in SIAN. Of the participating children, 1258 received vitamin A (98% of SIAN participants; 82% of all eligible children), 945 received anti-helminth tablets (84% of participants; 71% of eligibles), and 669 were screened for acute malnutrition (52% of participants; 43% of eligibles). 186 of the children screened (27%) were reportedly identified as acutely malnourished. SIAN screening covered a significantly greater proportion of children than were examined in both community-based (22% of children) and health center-based screening activities (5% of children) combined during the 4-5 months after the SIAN (Pmalnutrition in SIAN permits the assessment of a large number of children for acute malnutrition, and should be continued.

  3. Child symptoms, parent behaviors, and family strain in long-term survivors of childhood acute lymphoblastic leukemia.

    Science.gov (United States)

    Huang, I-Chan; Brinkman, Tara M; Mullins, Larry; Pui, Ching-Hon; Robison, Leslie L; Hudson, Melissa M; Krull, Kevin R

    2018-05-17

    How family environment and parental factors affect health status and symptoms in childhood cancer survivors is understudied. We examined the influence of family cohesion, parent distress, and overprotection on child symptom burden and health-related quality of life (HRQOL) and family strain in survivors of childhood acute lymphoblastic leukemia (ALL). Parents of 213 children treated with chemotherapy-only completed a survey when survivors were at least five-years post-diagnosis. Family Environment Scale, Brief Symptom Inventory-18, Parent Protection Scale, PedsQL, and Impact on Family were used to assess family cohesion, parental distress, overprotection, child symptom burden and HRQOL, and family strain, respectively. Path analysis was conducted to quantify effects of family cohesion on family strain through parental distress, overprotection, child symptoms, and HRQOL. Lower family cohesion (β=0.06, 95% CI=0.01 to 0.13), higher parental distress (β=0.35, 95% CI=0.20 to 0.45), and overprotection (β=0.17, 95% CI=0.01 to 0.32) were associated with more child symptom burden. More symptom burden were associated with poorer child HRQOL (β=0.66, 95% CI=0.57 to 0.75), which in turn was associated with more family strain (β=0.11, 95% CI=0.01 to 0.22). Lower maternal education was associated with overprotection (β=-0.23, 95% CI=-0.33 to -0.12), more child symptoms (β=-0.30, 95% CI=-0.41 to -0.16), poorer child HRQOL (β=-0.36, 95% CI=-0.46 to -0.21), and more family strain (β=-0.15, 95% CI=-0.23 to -0.08). Family and parental factors contributed to health outcomes of childhood ALL survivors. Interventions to enhance family cohesion, decrease parental distress and overprotection, and ameliorate child symptoms may improve family functioning. This article is protected by copyright. All rights reserved.

  4. Unilateral temporal myositis heralding polymyositis: ultrasonographic and elastographic findings. Case report.

    Science.gov (United States)

    Damian, Laura; Botar Jid, Carolina; Rogojan, Liliana; Dinu, Cristian; Maniu, Alma; Fodor, Daniela; Rednic, Simona; Simon, Siao-Pin

    2016-03-01

    Temporal myositis is a rare inflammatory disease of the temporal muscle. We report a case of unilateral temporal myositis, in which a polymyositis was diagnosed two years thereafter. Although focal myositis may rarely herald polymyositis, isolated temporal myositis preceding inflammatory myopathies has not been described, to our knowledge. In the setting of a temporal pain and swelling, ultrasonography may help in diagnosis, biopsy guidance, disease extension, and progression assessment. Further studies are necessary to establish the role of elastography in differentiating between muscle inflammation and hypertrophy.

  5. Childhood Acute Respiratory Infections and Household Environment in an Eastern Indonesian Urban Setting

    Directory of Open Access Journals (Sweden)

    Tomoyuki Shibata

    2014-11-01

    Full Text Available This pilot study evaluated the potential effect of household environmental factors such as income, maternal characteristics, and indoor air pollution on children’s respiratory status in an Eastern Indonesian community. Household data were collected from cross-sectional (n = 461 participants and preliminary childhood case-control surveys (pneumonia cases = 31 diagnosed within three months at a local health clinic; controls = 30. Particulate matter (PM2.5 and PM10 was measured in living rooms, kitchens, children’s bedrooms, and outside areas in close proximity once during the case-control household interviews (55 homes and once per hour from 6 a.m. to midnight in 11 homes. The household survey showed that children were 1.98 times (p = 0.02 more likely to have coughing symptoms indicating respiratory infection, if mothers were not the primary caregivers. More children exhibited coughing if they were not exclusively breastfed (OR = 2.18; p = 0.06 or there was a possibility that their mothers were exposed to environmental tobacco smoke during pregnancy (OR = 2.05; p = 0.08. This study suggests that household incomes and mother’s education have an indirect effect on childhood pneumonia and respiratory illness. The concentrations of PM2.5 and PM10 ranged from 0.5 to 35.7 µg/m3 and 7.7 to 575.7 µg/m3, respectively, based on grab samples. PM was significantly different between the case and control groups (p < 0.01. The study also suggests that ambient air may dilute indoor pollution, but also introduces pollution into the home from the community environment. Effective intervention programs need to be developed that consider multiple direct and indirect risk factors to protect children.

  6. Seizure characteristics of epilepsy in childhood after acute encephalopathy with biphasic seizures and late reduced diffusion.

    Science.gov (United States)

    Ito, Yuji; Natsume, Jun; Kidokoro, Hiroyuki; Ishihara, Naoko; Azuma, Yoshiteru; Tsuji, Takeshi; Okumura, Akihisa; Kubota, Tetsuo; Ando, Naoki; Saitoh, Shinji; Miura, Kiyokuni; Negoro, Tamiko; Watanabe, Kazuyoshi; Kojima, Seiji

    2015-08-01

    The aim of this study was to clarify characteristics of post-encephalopathic epilepsy (PEE) in children after acute encephalopathy with biphasic seizures and late reduced diffusion (AESD), paying particular attention to precise diagnosis of seizure types. Among 262 children with acute encephalopathy/encephalitis registered in a database of the Tokai Pediatric Neurology Society between 2005 and 2012, 44 were diagnosed with AESD according to the clinical course and magnetic resonance imaging (MRI) findings and were included in this study. Medical records were reviewed to investigate clinical data, MRI findings, neurologic outcomes, and presence or absence of PEE. Seizure types of PEE were determined by both clinical observation by pediatric neurologists and ictal video-electroencephalography (EEG) recordings. Of the 44 patients after AESD, 10 (23%) had PEE. The period between the onset of encephalopathy and PEE ranged from 2 to 39 months (median 8.5 months). Cognitive impairment was more severe in patients with PEE than in those without. Biphasic seizures and status epilepticus during the acute phase of encephalopathy did not influence the risk of PEE. The most common seizure type of PEE on clinical observation was focal seizures (n = 5), followed by epileptic spasms (n = 4), myoclonic seizures (n = 3), and tonic seizures (n = 2). In six patients with PEE, seizures were induced by sudden unexpected sounds. Seizure types confirmed by ictal video-EEG recordings were epileptic spasms and focal seizures with frontal onset, and all focal seizures were startle seizures induced by sudden acoustic stimulation. Intractable daily seizures remain in six patients with PEE. We demonstrate seizure characteristics of PEE in children after AESD. Epileptic spasms and startle focal seizures are common seizure types. The specific seizure types may be determined by the pattern of diffuse subcortical white matter injury in AESD and age-dependent reorganization of the brain

  7. The EuroMyositis registry: an international collaborative tool to facilitate myositis research.

    Science.gov (United States)

    Lilleker, James B; Vencovsky, Jiri; Wang, Guochun; Wedderburn, Lucy R; Diederichsen, Louise Pyndt; Schmidt, Jens; Oakley, Paula; Benveniste, Olivier; Danieli, Maria Giovanna; Danko, Katalin; Thuy, Nguyen Thi Phuong; Vazquez-Del Mercado, Monica; Andersson, Helena; De Paepe, Boel; deBleecker, Jan L; Maurer, Britta; McCann, Liza J; Pipitone, Nicolo; McHugh, Neil; Betteridge, Zoe E; New, Paul; Cooper, Robert G; Ollier, William E; Lamb, Janine A; Krogh, Niels Steen; Lundberg, Ingrid E; Chinoy, Hector

    2018-01-01

    The EuroMyositis Registry facilitates collaboration across the idiopathic inflammatory myopathy (IIM) research community. This inaugural report examines pooled Registry data. Cross-sectional analysis of IIM cases from 11 countries was performed. Associations between clinical subtypes, extramuscular involvement, environmental exposures and medications were investigated. Of 3067 IIM cases, 69% were female. The most common IIM subtype was dermatomyositis (DM) (31%). Smoking was more frequent in connective tissue disease overlap cases (45%, OR 1.44, 95% CI 1.09 to 1.90, p=0.012). Smoking was associated with interstitial lung disease (ILD) (OR 1.32, 95% CI 1.06 to 1.65, p=0.013), dysphagia (OR 1.43, 95% CI 1.16 to 1.77, p=0.001), malignancy ever (OR 1.78, 95% CI 1.36 to 2.33, p<0.001) and cardiac involvement (OR 2.40, 95% CI 1.60 to 3.60, p<0.001).Dysphagia occurred in 39% and cardiac involvement in 9%; either occurrence was associated with higher Health Assessment Questionnaire (HAQ) scores (adjusted OR 1.79, 95% CI 1.43 to 2.23, p<0.001). HAQ scores were also higher in inclusion body myositis cases (adjusted OR 3.85, 95% CI 2.52 to 5.90, p<0.001). Malignancy (ever) occurred in 13%, most commonly in DM (20%, OR 2.06, 95% CI 1.65 to 2.57, p<0.001).ILD occurred in 30%, most frequently in antisynthetase syndrome (71%, OR 10.7, 95% CI 8.6 to 13.4, p<0.001). Rash characteristics differed between adult-onset and juvenile-onset DM cases ('V' sign: 56% DM vs 16% juvenile-DM, OR 0.16, 95% CI 0.07 to 0.36, p<0.001). Glucocorticoids were used in 98% of cases, methotrexate in 71% and azathioprine in 51%. This large multicentre cohort demonstrates the importance of extramuscular involvement in patients with IIM, its association with smoking and its influence on disease severity. Our findings emphasise that IIM is a multisystem inflammatory disease and will help inform prognosis and clinical management of patients. © Article author(s) (or their employer(s) unless otherwise stated

  8. Identification of de Novo Fanconi Anemia in Younger Patients With Newly Diagnosed Acute Myeloid Leukemia

    Science.gov (United States)

    2016-05-13

    Childhood Acute Erythroleukemia (M6); Childhood Acute Megakaryocytic Leukemia (M7); Childhood Acute Minimally Differentiated Myeloid Leukemia (M0); Childhood Acute Monoblastic Leukemia (M5a); Childhood Acute Monocytic Leukemia (M5b); Childhood Acute Myeloblastic Leukemia With Maturation (M2); Childhood Acute Myeloblastic Leukemia Without Maturation (M1); Childhood Acute Myelomonocytic Leukemia (M4); Childhood Myelodysplastic Syndromes; Chronic Myelomonocytic Leukemia; de Novo Myelodysplastic Syndromes; Fanconi Anemia; Refractory Anemia; Refractory Anemia With Excess Blasts; Refractory Anemia With Excess Blasts in Transformation; Refractory Anemia With Ringed Sideroblasts; Secondary Myelodysplastic Syndromes; Untreated Childhood Acute Myeloid Leukemia and Other Myeloid Malignancies

  9. Mortality and prognostic factors in idiopathic inflammatory myositis: a retrospective analysis of a large multicenter cohort of Spain.

    Science.gov (United States)

    Nuño-Nuño, Laura; Joven, Beatriz Esther; Carreira, Patricia E; Maldonado-Romero, Valentina; Larena-Grijalba, Carmen; Cubas, Irene Llorente; Tomero, Eva Gloria; Barbadillo-Mateos, María Carmen; De la Peña Lefebvre, Paloma García; Ruiz-Gutiérrez, Lucía; López-Robledillo, Juan Carlos; Moruno-Cruz, Henry; Pérez, Ana; Cobo-Ibáñez, Tatiana; Almodóvar González, Raquel; Lojo, Leticia; García De Yébenes, María Jesús; López-Longo, Francisco Javier

    2017-11-01

    The present study was undertaken to assess mortality, causes of death, and associated prognostic factors in a large cohort of patients diagnosed with idiopathic inflammatory myositis (IIM) from Spain. A retrospective longitudinal study was carried out in 467 consecutive patients with IIM, identified from 12 medical centers. Patients were classified as primary polymyositis, primary dermatomyositis (DM), overlap myositis, cancer-associated myositis (CAM), and juvenile idiopathic inflammatory myopathies. A total of 113 deaths occurred (24%) after a median follow-up time of 9.7 years. In the overall cohort, the 2-, 5-, and 10-year survival probabilities were 91.9, 86.7, and 77%, respectively. Main causes of death were infections and cancer (24% each). Multivariate model revealed that CAM (HR = 24.06), OM (HR = 12.00), DM (HR = 7.26), higher age at diagnosis (HR = 1.02), severe infections (HR = 3.66), interstitial lung disease (HR = 1.61), and baseline elevation of acute phase reactants (HR = 3.03) were associated with a worse prognosis, while edema of the hands (HR = 0.39), female gender (HR = 0.39), and longer disease duration (HR = 0.73) were associated with a better prognosis. The standardized mortality ratio was 1.56 (95% CI 1.28-1.87) compared to the Spanish general population. Our findings indicate that IIM has a high long-term mortality, with an excess of mortality compared to the Spanish population. A more aggressive therapy may be required in IIM patients presenting with poor predictive factors.

  10. Diapers in war zones: ethnomedical factors in acute childhood gastroenteritis in Peshawar, Pakistan.

    Directory of Open Access Journals (Sweden)

    Saira H Zaidi

    Full Text Available This article considers ethnomedical knowledge and practices among parents related to contraction of acute gastroenteritis among children in Peshawar, Pakistan. Research methods included analysis of the Emergency Pediatric Services' admission register, a structured interview administered to 47 parents of patients seen in the Khyber Medical College Teaching Hospital, semi-structured interviews of 12 staff, and four home visits among families with children treated at the hospital. The use of native research assistants and participant observation contributed to the reliability of the findings, though the ethnographic, home-visit sample is small. Our research indicated that infection rates are exacerbated in homes through two culturally salient practices and one socioeconomic condition. Various misconceptions propagate the recurrence or perserverance of acute gastroenteritis including assumptions about teething leading to poor knowledge of disease etiology, rehydration solutions leading to increased severity of disease, and diaper usage leading to the spread of disease. In our Discussion, we suggest how hospital structures of authority and gender hierarchy may impact hospital interactions, the flow of information, and its respective importance to the patient's parents leading to possible propagation of disease. These ethnographic data offer a relatively brief but targeted course of action to improve the effectiveness of prevention and treatment efforts.

  11. Risk-adapted stratification and treatment of childhood acute lymphoblastic leukaemia

    International Nuclear Information System (INIS)

    Schrappe, M.

    2008-01-01

    Systematic enrolment of children and adolescents with acute lymphoblastic leukaemia (ALL) into clinical trials has allowed the establishment of prognostic parameters derived from initial diagnostic findings. More important, these trials have significantly contributed to the reduction of disease recurrence as much as to the reduction of acute and late side effects. Some problems that are related to the specificity of the parameters used for risk assessment were not overcome: high tumour load by white blood cell count (WBC), age and (rare) cytogenetic subtypes (e.g. t9;22) may characterise a significant proportion of children and adolescents with high-risk ALL. Most patients who will eventually relapse do not present with characteristic features at initial diagnosis. It appears feasible through careful response assessment to identify these patients at risk of relapse, who present initially without specific features. Earlier trials of the ALL-BFM (Berlin/Frankfurt/Muenster) study group and others have demonstrated that inadequate leukaemic blast reduction in the peripheral blood or bone marrow after the first few days of therapy is highly predictive of treatment failure. Using clone-specific polymerase chain reaction-based detection of minimal residual disease (MRD) as done in trial AIEOP-BFM ALL 2000 allowed a close surveillance of specific treatment elements when applied in MRD positive patients. This may facilitate innovative chemotherapy approaches and a more rational use of allogeneic haematopoietic stem cell transplantation. In addition, genetic signatures of treatment response or failure have been identified. (authors)

  12. Human parvovirus B19 in childhood acute lymphoblastic leukaemia in Basrah.

    Science.gov (United States)

    Ibrahem, Wijdan Nazar; Hasony, Hassan Jaber; Hassan, Jenan Ghulam

    2014-01-01

    To investigate the association of human parvovirus B19 infection with the onset of acute lymphoblastic leukaemia and its effect on TEL-AML-1 fusion gene and the presence of mutant P53. The case-control study was conducted at Basrah Hospital for Paediatrics and Gynaecology, Basrah, Iraq, from May 2009 to April 2010. A total of 100 blood samples were collected from 40 newly diagnosed cases and 60 healthy children to serve as control matched by age and gender. Human parvovirus B19-IgG and anti-P53 antibody were detected by enzyme-linked immunosorbent assay and TEL-AML-1 fusion gene was detected by reverse transcriptase-polymerase chain reaction on extracted ribonucleic acid from fresh blood samples using specified primers. SPSS 15 was used for statistical analysis. A higher proportion of human parvovirus B19-positive cases was found in leukaemic patients (n=19; 47.5%) compared to 12 (20%) in the control group (pparvovirus-B19 infection as 10 (71.4%) of TEL-AML-1 translocation-positive cases had human parvovirus-B19 IgG. On the other hand, there was no association between such infections and P53 gene mutation in the patients. Human parvovirus-B19 infection is common in the population, with higher prevalence among leukaemic patients with significant association between human parvovirus-B19 and TEL-AML-1 fusion gene in patients of acute lymphoblastic leukaemia.

  13. Post-induction residual leukemia in childhood acute lymphoblastic leukemia quantified by PCR correlates with in vitro prednisolone resistance

    DEFF Research Database (Denmark)

    Schmiegelow, K; Nyvold, C; Seyfarth, J

    2001-01-01

    Most prognostic factors in childhood acute lymphoblastic leukemia (ALL) are informative for groups of patients, whereas new approaches are needed to predict the efficacy of chemotherapy for the individual patient. The residual leukemia following 4 weeks of induction therapy with prednisolone......, vincristine, doxorubicin and i.t. methotrexate and the in vitro resistance to prednisolone, vincristine, and doxorubicin were measured in 30 boys and 12 girls with B (n = 34) or T lineage (n = 8) ALL. The residual leukemia was quantified after 2 (MRD-D15, n = 29) and 4 weeks (MRD-PI, n = 42) of induction...... pronounced when B cell precursor and T cell leukemia were analyzed separately (B cell precursor ALL: MRD-PI vs prednisolone LC50: n = 33, rs = 0.47, P = 0.006; T cell ALL: MRD-PI vs prednisolone resistance: n = 8, rs = 0.84, P = 0.009). After a median follow-up of 5.0 years (75% range 3.2-6.9) eight patients...

  14. An adult patient who developed malignant fibrous histiocytoma 9 years after radiation therapy for childhood acute lymphoblastic leukemia

    International Nuclear Information System (INIS)

    Kato, Yasuhiro; Ohno, Norioki; Horikawa, Yoko; Nishimura, Shin-ichiro; Ueda, Kazuhiro; Shimose, Shoji

    2002-01-01

    A 24-year-old Japanese man with a history of acute lymphoblastic leukemia, which occurred during childhood, developed malignant fibrous histiocytoma of his left knee. His past history revealed that he had undergone leukemic blast cell invasion of the left knee and subsequent radiation therapy 9 years ago. The total radiation doses for the upper part of the left tibia and the lower part of the left femur were 60 Gy and 40 Gy, respectively. Neither distant metastasis nor a relapse of leukemia occurred. A curative resection of the left femur with a noninvasive margin was performed. Adjuvant chemotherapy including high-dose methotrexate was given successfully before and after surgery; this was followed by relapse-free survival for 3 years. The nature of postirradiation malignant fibrous histiocytoma is highly aggressive. When a patient complains of persistent symptoms in a previously irradiated field, the possibility of this tumor must be taken into account. The importance of early diagnosis cannot be over-emphasized. (author)

  15. Extremely low-frequency magnetic fields and childhood acute lymphoblastic leukemia: an exploratory analysis of alternative exposure metrics.

    Science.gov (United States)

    Auvinen, A; Linet, M S; Hatch, E E; Kleinerman, R A; Robison, L L; Kaune, W T; Misakian, M; Niwa, S; Wacholder, S; Tarone, R E

    2000-07-01

    Data collected by the National Cancer Institute-Children's Cancer Group were utilized to explore various metrics of magnetic field levels and risk of acute lymphoblastic leukemia (ALL) in children. Cases were aged 0-14 years, were diagnosed with ALL during 1989-1993, were registered with the Children's Cancer Group, and resided in one home for at least 70 percent of the 5 years immediately prior to diagnosis. Controls were identified by using random digit dialing and met the same residential requirements. With 30-second ("spot") measurements and components of the 24-hour measurement obtained in the subject's bedroom, metrics evaluated included measures of central tendency, peak exposures, threshold values, and measures of short-term temporal variability. Measures of central tendency and the threshold measures showed good-to-high correlation, but these metrics correlated less well with the others. Small increases in risk (ranging from 1.02 to 1.69 for subjects in the highest exposure category) were associated with some measures of central tendency, but peak exposures, threshold values, measures of short-term variability, and spot measurements demonstrated little association with risk of childhood ALL. In general, risk estimates were slightly higher for the nighttime (10 p.m.-6 a.m.) interval than for the corresponding 24-hour period.

  16. An adult patient who developed malignant fibrous histiocytoma 9 years after radiation therapy for childhood acute lymphoblastic leukemia

    Energy Technology Data Exchange (ETDEWEB)

    Kato, Yasuhiro [National Hiroshima Hospital, Higashi-Hiroshima (Japan); Ohno, Norioki; Horikawa, Yoko; Nishimura, Shin-ichiro; Ueda, Kazuhiro; Shimose, Shoji [Hiroshima Univ. (Japan). School of Medicine

    2002-12-01

    A 24-year-old Japanese man with a history of acute lymphoblastic leukemia, which occurred during childhood, developed malignant fibrous histiocytoma of his left knee. His past history revealed that he had undergone leukemic blast cell invasion of the left knee and subsequent radiation therapy 9 years ago. The total radiation doses for the upper part of the left tibia and the lower part of the left femur were 60 Gy and 40 Gy, respectively. Neither distant metastasis nor a relapse of leukemia occurred. A curative resection of the left femur with a noninvasive margin was performed. Adjuvant chemotherapy including high-dose methotrexate was given successfully before and after surgery; this was followed by relapse-free survival for 3 years. The nature of postirradiation malignant fibrous histiocytoma is highly aggressive. When a patient complains of persistent symptoms in a previously irradiated field, the possibility of this tumor must be taken into account. The importance of early diagnosis cannot be over-emphasized. (author)

  17. DNA methylation for subtype classification and prediction of treatment outcome in patients with childhood acute lymphoblastic leukemia.

    Science.gov (United States)

    Milani, Lili; Lundmark, Anders; Kiialainen, Anna; Nordlund, Jessica; Flaegstad, Trond; Forestier, Erik; Heyman, Mats; Jonmundsson, Gudmundur; Kanerva, Jukka; Schmiegelow, Kjeld; Söderhäll, Stefan; Gustafsson, Mats G; Lönnerholm, Gudmar; Syvänen, Ann-Christine

    2010-02-11

    Despite improvements in the prognosis of childhood acute lymphoblastic leukemia (ALL), subgroups of patients would benefit from alternative treatment approaches. Our aim was to identify genes with DNA methylation profiles that could identify such groups. We determined the methylation levels of 1320 CpG sites in regulatory regions of 416 genes in cells from 401 children diagnosed with ALL. Hierarchical clustering of 300 CpG sites distinguished between T-lineage ALL and B-cell precursor (BCP) ALL and between the main cytogenetic subtypes of BCP ALL. It also stratified patients with high hyperdiploidy and t(12;21) ALL into 2 subgroups with different probability of relapse. By using supervised learning, we constructed multivariate classifiers by external cross-validation procedures. We identified 40 genes that consistently contributed to accurate discrimination between the main subtypes of BCP ALL and gene sets that discriminated between subtypes of ALL and between ALL and controls in pairwise classification analyses. We also identified 20 individual genes with DNA methylation levels that predicted relapse of leukemia. Thus, methylation analysis should be explored as a method to improve stratification of ALL patients. The genes highlighted in our study are not enriched to specific pathways, but the gene expression levels are inversely correlated to the methylation levels.

  18. Acute and long-term cytogenetic effects of treatment in childhood cancer

    International Nuclear Information System (INIS)

    Aronson, M.M.; Miller, R.C.; Hill, R.B.; Nichols, W.W.; Meadows, A.T.

    1982-01-01

    The incidence of chromosomal aberrations in banded karyotypes and of sister-chromatid exchanges (SCEs) was determined in the lymphocytes of survivors of childhood cancer as 2 parameters which are pertinent in assessing the genetic damage induced by chemotherapy. The proportion of cells with chromosome breakage or structural rearrangement-type aberration was 1 cell in 67 in a control group of 8 untreated cancer patients and 2 parents of cancer patients, 1 cell in 8 in 12 patients currently on therapy, and 1 cell in 50 in 17 patients sampled 6 months to 35 years post-treatment. The range of mean SCE levels per cell was 4.5-6.5 in the untreated cancer patients, 4.0-9.6 in non-cancer controls, 3.3-33.7 in patients on therapy, and 4.6-9.7 in post-therapy survivors. Considerable variability was observed between individuals with both SCE and breakage assays but therapy-induced increases in SCEs were not necessarily correlated with increased levels of aberrations arising from chromosomal breakage. (orig.)

  19. Management of Myositis-Related Interstitial Lung Disease.

    Science.gov (United States)

    Morisset, Julie; Johnson, Cheilonda; Rich, Eric; Collard, Harold R; Lee, Joyce S

    2016-11-01

    Interstitial lung disease (ILD) is a frequent pulmonary manifestation and an important cause of morbidity and mortality in patients with idiopathic inflammatory myopathy. Myositis-related ILD presents a therapeutic challenge for clinicians, as there are no available guidelines to help with management decisions. This review covers the existing evidence on the pharmacologic and nonpharmacologic management of myositis-related ILD, highlighting the lack of randomized controlled data to guide treatment. Given the absence of existing guidelines to inform treatment decisions, we provide a comprehensive summary, including dosing, side effects, and suggested monitoring of the commonly used immunosuppressive agents and a proposed treatment algorithm based on the existing literature. Copyright © 2016 American College of Chest Physicians. Published by Elsevier Inc. All rights reserved.

  20. Myositis ossificans traumatica causing ankylosis of the elbow.

    Science.gov (United States)

    Kanthimathi, B; Udhaya Shankar, S; Arun Kumar, K; Narayanan, V L

    2014-12-01

    Myositis ossificans traumatica is an unusual complication following a muscle contusion injury. A significantly large myositic mass causing ankylosis of the elbow is even rarer. We report a 13-year-old boy who presented with a 14-month history of a fixed elbow with no movement and a palpable bony mass in the anterior aspect of the elbow. He had sustained significant trauma to the affected limb 1 month prior to onset of symptoms, which was managed by native massage and bandaging for 4 weeks. The clinicoradiological diagnosis was suggestive of myositis ossificans, and the myositic mass was completely excised. Histopathology revealed lamellar bone. The 2-year follow-up showed full function of the affected limb and no signs of recurrence. We report this case of clinical interest due to the unusually large myositic mass.

  1. TEST performance of a myositis panel in a clinical immunology laboratory in New South Wales, Australia.

    Science.gov (United States)

    Tan, Teck Choon; Wienholt, Louise; Adelstein, Stephen

    2016-10-01

    There is increasing recognition of a clinico-serological correlation between the idiopathic inflammatory myopathies and myositis-specific autoantibodies (MSA). We review the use of a line immunoassay-based myositis panel incorporating both MSA and myositis-associated autoantibodies (MAA) in a selected population of patients. A retrospective analysis of patients with myositis panel assays performed in 2013 were reviewed and compared against clinical diagnoses. A total of 96 patient samples were evaluated, the clinical indications include 60 patients with suspected idiopathic inflammatory myositis (IIM), 24 patients with suspected interstitial lung disease (ILD) and 12 patients with suspected systemic autoimmune disease (SAD). In the myositis group, there were 21 patients diagnosed with IIM and 18 patients diagnosed with IIM had a positive myositis panel. Of the 39 patients without IIM, nine of these patients had a positive myositis panel. In the ILD group, 10 of 24 patients had a positive myositis panel; of these, two were diagnosed anti-synthetase syndrome (ASS) and five patients with ILD. In the suspected SAD group, three had positive myositis panel and all did not appear associated with their final diagnoses. In patients with a clinical diagnosis of IIM or ILD-associated SAD, four patients with anti-PL-12 were detected, three patients with anti-signal recognition protein, two patients with anti-Jo-1, and two patients with anti-Mi2. The myositis panel is an objective investigative modality with a sensitivity of 80.00% and a specificity of 75.76% in a setting of high pretest clinical suspicion. © 2015 Asia Pacific League of Associations for Rheumatology and Wiley Publishing Asia Pty Ltd.

  2. Myositis Ossificans Progressiva in the Whole Spine: A Case Report

    Directory of Open Access Journals (Sweden)

    Ebrahim Ghayem Hasankhani

    2018-02-01

    Full Text Available Myositis ossificans progressiva is a rare inherited disease characterized by progressive ectopic ossifications associated with thumb and big toe anomalies. Ossification usually progresses from central to the peripheral, proximal to distal, cranial to caudal, and from dorsal to ventral directions and leading to activity limitation, significant eating disability, recurrent pulmonary infection, and atelectasis. In this report, we present a 7-year-old boy with a total spine stiffness (wooden spine seriously limited his activity of daily living.

  3. The Clinical Features of Myositis-Associated Autoantibodies: a Review.

    Science.gov (United States)

    Gunawardena, Harsha

    2017-02-01

    The idiopathic inflammatory myopathies (IIM) are a group of autoimmune diseases traditionally defined by clinical manifestations including skeletal muscle weakness, skin rashes, elevated skeletal muscle enzymes, and neurophysiological and/or histological evidence of muscle inflammation. Patients with myositis overlap can develop other features including parenchymal lung disease, inflammatory arthritis, gastrointestinal manifestations and marked constitutional symptoms. Although patients may be diagnosed as having polymyositis (PM) or dermatomyositis (DM) under the IIM spectrum, it is quite clear that disease course between subgroups of patients is different. For example, interstitial lung disease may predominate in some, whereas cutaneous complications, cancer risk, or severe refractory myopathy may be a significant feature in others. Therefore, tools that facilitate diagnosis and indicate which patients require more detailed investigation for disease complications are invaluable in clinical practice. The expanding field of autoantibodies (autoAbs) associated with connective tissue disease (CTD)-myositis overlap has generated considerable interest over the last few years. Using an immunological diagnostic approach, this group of heterogeneous conditions can be separated into a number of distinct clinical phenotypes. Rather than diagnose a patient as simply having PM, DM or overlap CTD, we can define syndromes to differentiate disease subsets that emphasise clinical outcomes and guide management. There are now over 15 CTD-myositis overlap autoAbs found in patients with a range of clinical manifestations including interstitial pneumonia, cutaneous disease, cancer-associated myositis and autoimmune-mediated necrotising myopathy. This review describes their diagnostic utility, potential role in disease monitoring and response to treatment. In the future, routine use of these autoAb will allow a stratified approach to managing this complex set of conditions.

  4. A Rare Case Of Non Traumatic Myositis Ossificans Circumscripta

    OpenAIRE

    Mahale, Yashwant J.; Vyawahare, Chaitanya S.; Dravid, Nandkishore V.; Upase, Aditya; Rathi, Romil

    2015-01-01

    Introduction: Myositis ossificans circumscripta is a benign non neoplastic ossifying tumor presenting with bone like osteoid tissue extraskelletaly amidst the muscle planes. This condition when not associated with trauma is very trivial and considering the way it mimics certain characteristics, it may be misunderstood as a malignant neoplasm, abscess or antibioma. The aetiology of this atraumatic condition is still indistinct and remains a question unsolved. We would like to report such a cas...

  5. Tubercular myositis of infraspinatus: a rare clinical entity

    OpenAIRE

    Vikas Verma; Yogesh Kumar Yadav; Anuj Rastogi; Farid Mohammed

    2016-01-01

    Tuberculosis of the musculoskeletal system is generally confined to bones and joints. The surrounding soft tissue is secondarily infected. Tuberculous bursitis, tenosynovitis and primary pyomyositis are rarer manifestations of the disease. Of these, primary tuberculouspyomyositis is probably the rarest entity. We report a case of tubercular myositis of infraspinatus in an 8 year-old female who presented with pain, low grade fever, weight loss, anorexia, progressively increasing pain in the sc...

  6. CT in idiopathic pyogenic myositis of the iliopsoas muscle

    International Nuclear Information System (INIS)

    Kvernebo, K.; Stiris, G.; Haaland, M.; Aker Sykehus, Oslo; Buskerud Country Hospital

    1983-01-01

    Pyogenic myositis of the iliopsoas muscle may occur as a primary clinical entity of an idiopathie nature, or more commonly secondarily to an adjacent disease process. We report 2 cases of idiopathic pyogenic infection caused by Staphylococcus aureus. This disease entity is rare in temperate climates. CT combined with clinical and biochemical information enabled the correct diagnosis, and appropriate treatment could thus be started. (orig.)

  7. Acute Disseminated Encephalomyelitis: A Review of Eleven Cases in Childhood in North of Iran

    Directory of Open Access Journals (Sweden)

    Ali Nikkhah

    2016-01-01

    Full Text Available Background: Acute disseminated encephalomyelitis (ADEM is an inflammatory demyelinating disorder. The pathogenesis is unclear, but it is thought to be immune-mediated. The prognosis is favorable, with most children making a full recovery. Objectives: The present report analyzed different clinical presentations, response to treatment and outcome in a series of 11 patients with ADEM who referred to our tertiary center in north of Iran from 2010 to 2014. Materials and Methods: In this retrospective simple descriptive review, eleven cases with ADEM admitted in the neurology ward from 2010 to 2014 were enrolled. The clinical findings and laboratory and imaging results of patients were reviewed. All of these cases were evaluated with neurological examination, serologic tests for bacterial meningitis and viral encephalitis (especially, herpes simplex virus and brain MRI without contrast. After discharge, patients were followed for at least six months (6 to 12 months clinically and radiologically. Results: Of 11 children, 8 were male and 3 female. Their ages ranged between 4 and 10 years. The mean interval between the preceding infection and symptoms of encephalomyelitis was nine days. The most common presenting symptoms were ataxia in 45.4%, fever and headache in 36.4% and altered consciousness in 18.2% of patients. Neurological examination revealed pyramidal motor signs such as brisk deep tendon reflexes (hyperreflexia (81.8%, cranial nerve involvement (18.2%, dysarthria (9.1% and abnormal movements (9.1%. We followed up these patients in long-term for 6 to 12 months. Only in 1 child who received IVIG, mild ataxia had reminded. Conclusions: The prognosis of acute disseminated encephalomyelitis (ADEM is favorable. Early diagnosis and prompt treatment of ADEM would probably reduce morbidity.

  8. Human Parvovirus B19 in childhood acute lymphoblastic leukaemia in basrah

    International Nuclear Information System (INIS)

    Ibrahem, W.N.; Hasony, H.J.; Hassan, J.G.

    2014-01-01

    Objective: To investigate the association of human parvovirus B19 infection with the onset of acute lymphoblastic leukaemia and its effect on TEL-AML-1 fusion gene and the presence of mutant P53. Methods: The case-control study was conducted at Basrah Hospital for Paediatrics and Gynaecology, Basrah, Iraq, from May 2009 to April 2010. A total of 100 blood samples were collected from 40 newly diagnosed cases and 60 healthy children to serve as control matched by age and gender. Human parvovirus B19-IgG and anti-P53 antibody were detected by enzyme-linked immunosorbent assay and TEL-AML-1 fusion gene was detected by reverse transcriptase-polymerase chain reaction on extracted ribonucleic acid from fresh blood samples using specified primers. SPSS 15 was used for statistical analysis. Results: A higher proportion of human parvovirus B19-positive cases was found in leukaemic patients (n=19; 47.5%) compared to 12 (20%) in the control group (p<0.05). There was significant association between Tel-Amyl-1 translocation and human parvovirus-B19 infection as 10 (71.4%) of TEL-AML-1 translocation-positive cases had human parvovirus-B19 IgG. On the other hand, there was no association between such infections and P53 gene mutation in the patients. Conclusion: Human parvovirus-B19 infection is common in the population, with higher prevalence among leukaemic patients with significant association between human parvovirus-B19 and TEL-AML-1 fusion gene in patients of acute lymphoblastic leukaemia. (author)

  9. Patients' Experience of Myositis and Further Validation of a Myositis-specific Patient Reported Outcome Measure - Establishing Core Domains and Expanding Patient Input on Clinical Assessment in Myositis. Report from OMERACT 12.

    Science.gov (United States)

    Regardt, Malin; Basharat, Pari; Christopher-Stine, Lisa; Sarver, Catherine; Björn, Anita; Lundberg, Ingrid E; Wook Song, Yeong; Bingham, Clifton O; Alexanderson, Helene

    2015-12-01

    The Outcome Measures in Rheumatology (OMERACT) myositis working group was established to examine patient-reported outcomes (PRO) as well as to validate patient-reported outcome measures (PROM) in myositis. Qualitative studies using focus group interviews and cognitive debriefing of the myositis-specific Myositis Activities Profile (MAP) were used to explore the experience of adults living with polymyositis (PM) and dermatomyositis (DM). Preliminary results underscore the importance of patient input in the development of PROM to ensure content validity. Results from multicenter focus groups indicate the range of symptoms experienced including pain, fatigue, and impaired cognitive function, which are not currently assessed in myositis. Preliminary cognitive debriefing of the MAP indicated that while content was deemed relevant and important, several activities were not included; and that questionnaire construction and wording may benefit from revision. A research agenda was developed to continue work toward optimizing PRO assessment in myositis with 2 work streams. The first would continue to conduct and analyze focus groups until saturation in the thematic analysis was achieved to develop a framework that encompassed the patient-relevant aspects of myositis. The second would continue cognitive debriefing of the MAP to identify potential areas for revision. There was agreement that further work would be needed for inclusion body myositis and juvenile dermatomyositis, and that the inclusion of additional contributors such as caregivers and individuals from the pharmaceutical/regulatory spheres would be desirable. The currently used PROM do not assess symptoms or the effects of disease that are most important to patients; this emphasizes the necessity of patient involvement. Our work provides concrete examples for PRO identification.

  10. Brief Report: Association of Myositis Autoantibodies, Clinical Features, and Environmental Exposures at Illness Onset With Disease Course in Juvenile Myositis.

    Science.gov (United States)

    Habers, G Esther A; Huber, Adam M; Mamyrova, Gulnara; Targoff, Ira N; O'Hanlon, Terrance P; Adams, Sharon; Pandey, Janardan P; Boonacker, Chantal; van Brussel, Marco; Miller, Frederick W; van Royen-Kerkhof, Annet; Rider, Lisa G

    2016-03-01

    To identify early factors associated with disease course in patients with juvenile idiopathic inflammatory myopathies (IIMs). Univariable and multivariable multinomial logistic regression analyses were performed in a large juvenile IIM registry (n = 365) and included demographic characteristics, early clinical features, serum muscle enzyme levels, myositis autoantibodies, environmental exposures, and immunogenetic polymorphisms. Multivariable associations with chronic or polycyclic courses compared to a monocyclic course included myositis-specific autoantibodies (multinomial odds ratio [OR] 4.2 and 2.8, respectively), myositis-associated autoantibodies (multinomial OR 4.8 and 3.5), and a documented infection within 6 months of illness onset (multinomial OR 2.5 and 4.7). A higher overall clinical symptom score at diagnosis was associated with chronic or monocyclic courses compared to a polycyclic course. Furthermore, severe illness onset was associated with a chronic course compared to monocyclic or polycyclic courses (multinomial OR 2.1 and 2.6, respectively), while anti-p155/140 autoantibodies were associated with chronic or polycyclic courses compared to a monocyclic course (multinomial OR 3.9 and 2.3, respectively). Additional univariable associations of a chronic course compared to a monocyclic course included photosensitivity, V-sign or shawl sign rashes, and cuticular overgrowth (OR 2.2-3.2). The mean ultraviolet index and highest ultraviolet index in the month before diagnosis were associated with a chronic course compared to a polycyclic course in boys (OR 1.5 and 1.3), while residing in the Northwest was less frequently associated with a chronic course (OR 0.2). Our findings indicate that myositis autoantibodies, in particular anti-p155/140, and a number of early clinical features and environmental exposures are associated with a chronic course in patients with juvenile IIM. These findings suggest that early factors, which are associated with poorer

  11. Myositis ossificans circumscripta, secondary to high-velocity gunshot and fragment wound that causes sciatica.

    Science.gov (United States)

    Gokkus, Kemal; Sagtas, Ergin; Suslu, Feride Ekimler; Aydin, Ahmet Turan

    2013-10-17

    This report concerns an unusual cause of sciatica. The case presented is of a young man with myositis ossificans that resulted in sciatica and was treated with en bloc excision and low-dose radiotherapy and indomethacine. The aim of this study was to explain the different diagnostic properties of myositis ossificans around the hip and non-classic causes of sciatica.

  12. Scintigraphic evaluation of Lyme disease: Gallium-67 imaging of Lyme myositis

    International Nuclear Information System (INIS)

    Kengen, R.A.; Linde, M. von der; Sprenger, H.G.; Piers, D.A.

    1989-01-01

    A patient suffering from Lyme disease had cardiac conduction abnormalities, symptoms of arthritis, and myalgia. A Ga-67 image showed evidence of endomyocarditis, but intense skeletal muscle uptake pointed to Lyme myositis. Reference is made to two other case reports of Lyme myositis

  13. The myositis autoantibody phenotypes of the juvenile idiopathic inflammatory myopathies.

    Science.gov (United States)

    Rider, Lisa G; Shah, Mona; Mamyrova, Gulnara; Huber, Adam M; Rice, Madeline Murguia; Targoff, Ira N; Miller, Frederick W

    2013-07-01

    The juvenile idiopathic inflammatory myopathies (JIIM) are systemic autoimmune diseases characterized by skeletal muscle weakness, characteristic rashes, and other systemic features. In follow-up to our study defining the major clinical subgroup phenotypes of JIIM, we compared demographics, clinical features, laboratory measures, and outcomes among myositis-specific autoantibody (MSA) subgroups, as well as with published data on adult idiopathic inflammatory myopathy patients enrolled in a separate natural history study. In the present study, of 430 patients enrolled in a nationwide registry study who had serum tested for myositis autoantibodies, 374 had either a single specific MSA (n = 253) or no identified MSA (n = 121) and were the subject of the present report. Following univariate analysis, we used random forest classification and exact logistic regression modeling to compare autoantibody subgroups. Anti-p155/140 autoantibodies were the most frequent subgroup, present in 32% of patients with juvenile dermatomyositis (JDM) or overlap myositis with JDM, followed by anti-MJ autoantibodies, which were seen in 20% of JIIM patients, primarily in JDM. Other MSAs, including anti-synthetase, anti-signal recognition particle (SRP), and anti-Mi-2, were present in only 10% of JIIM patients. Features that characterized the anti-p155/140 autoantibody subgroup included Gottron papules, malar rash, "shawl-sign" rash, photosensitivity, cuticular overgrowth, lowest creatine kinase (CK) levels, and a predominantly chronic illness course. The features that differed for patients with anti-MJ antibodies included muscle cramps, dysphonia, intermediate CK levels, a high frequency of hospitalization, and a monocyclic disease course. Patients with anti-synthetase antibodies had higher frequencies of interstitial lung disease, arthralgia, and "mechanic's hands," and had an older age at diagnosis. The anti-SRP group, which had exclusively juvenile polymyositis, was characterized by high

  14. The development of cerebral CT changes during treatment of acute lymphocytic leukemia in childhood

    International Nuclear Information System (INIS)

    Pedersen, H.; Clausen, N.

    1981-01-01

    Twenty-three children with acute lymphocytic leukemia (ALL) were examined with cranial CT at least twice with a minimal interval of 10 months. The first CT was performed at the time of diagnosis in 11 children and during therapy in 12; all but two were normal on the first CT examination. These two had slight enlargement of the ventricular system and subarachnoid space at the time of diagnosis. These findings were unchanged on the second CT examinations. Seven patients, all in remission from leukemia of the central nervous system manifested abnormal findings on later CTs. Low density areas in the periventricular white matter were seen in the brains of three, with increasing subcortical calcification in one of these cases. Five children had slight enlargement of the ventricular system and subarachnoid space, especially of the basal and Sylvian cisterns. Later CT examinations in five, plus brain autopsy in two cases, revealed unchanged or progressive conditions. The CT findings have been related to the treatment and some characteristics of the disease. The frequency of CT abnormalities was higher in patients who had received therapeutic irradiation and intraventricular methotrexate treatment. The possible reasons for the CT abnormalities are discussed. (orig.)

  15. Changes in cytogenetics and molecular genetics in acute myeloid leukemia from childhood to adult age groups.

    Science.gov (United States)

    Creutzig, Ursula; Zimmermann, Martin; Reinhardt, Dirk; Rasche, Mareike; von Neuhoff, Christine; Alpermann, Tamara; Dworzak, Michael; Perglerová, Karolína; Zemanova, Zuzana; Tchinda, Joelle; Bradtke, Jutta; Thiede, Christian; Haferlach, Claudia

    2016-12-15

    To obtain better insight into the biology of acute myeloid leukemia (AML) in various age groups, this study focused on the genetic changes occurring during a lifetime. This study analyzed the relation between age and genetics from birth to 100 years in 5564 patients with de novo AML diagnosed from 1998 to 2012 (1192 patients from nationwide pediatric studies [AML Berlin-Frankfurt-Münster studies 98 and 2004] and 4372 adults registered with the Munich Leukemia Laboratory). The frequencies of cytogenetic subgroups were age-dependent. Favorable subtypes (t(8;21), inv(16)/t(16;16), and t(15;17)) decreased in general from the pediatric age group (2 to groups ( 70 years; P age-specific incidence with age. Interestingly, the frequency of 11q23 abnormalities decreased from infants to older patients. The proportion of clinically relevant molecular aberrations of CCAAT/enhancer binding protein α, nucleophosmin (NPM1), and NPM1/fms-related tyrosine kinase 3-internal tandem duplication increased with age. Altogether, with the exclusion of infants, a significant decrease in the proportion of favorable cytogenetic subtypes and an increase in unfavorable cytogenetics were observed with increasing age. These findings indicate different mechanisms for the pathogenesis of AML; these different mechanisms also suggest directions for etiological research and contribute to the more unfavorable prognosis with increasing age. Cancer 2016;122:3821-3830. © 2016 American Cancer Society. © 2016 American Cancer Society.

  16. Increased Body Mass Index during Therapy for Childhood Acute Lymphoblastic Leukemia: A Significant and Underestimated Complication

    Directory of Open Access Journals (Sweden)

    Helen C. Atkinson

    2015-01-01

    Full Text Available Objective & Design. We undertook a retrospective review of children diagnosed with acute lymphoblastic leukemia (ALL and treated with modern COG protocols (n=80 to determine longitudinal changes in body mass index (BMI and the prevalence of obesity compared with a healthy reference population. Results. At diagnosis, the majority of patients (77.5% were in the healthy weight category. During treatment, increases in BMI z-scores were greater for females than males; the prevalence of obesity increased from 10.3% to 44.8% (P<0.004 for females but remained relatively unchanged for males (9.8% to 13.7%, P=0.7. Longitudinal analysis using linear mixed-effects identified associations between BMI z-scores and time-dependent interactions with sex (P=0.0005, disease risk (P<0.0001, age (P=0.0001, and BMI z-score (P<0.0001 at diagnosis and total dose of steroid during maintenance (P=0.01. Predicted mean BMI z-scores at the end of therapy were greater for females with standard risk ALL irrespective of age at diagnosis and for males younger than 4 years of age at diagnosis with standard risk ALL. Conclusion. Females treated on standard risk protocols and younger males may be at greatest risk of becoming obese during treatment for ALL. These subgroups may benefit from intervention strategies to manage BMI during treatment for ALL.

  17. Rotavirus and other enteropathogens in childhood acute diarrhoea: a study of two centres in Malaysia.

    Science.gov (United States)

    Lee, Way S; Rajasekaran, Ganeswrie; Pee, Susan; Karunakaran, Rina; Hassan, Hamimah H; Puthucheary, Savithri D

    2006-09-01

    To study the role of rotavirus in children hospitalised for acute gastroenteritis (AGE) in two urban hospitals in Malaysia. A 12-month prospective study (January to December 2002), in children younger than 14 years with AGE hospitalised to the paediatric units of University of Malaya Medical Centre (UMMC), Kuala Lumpur; and Hospital Sultanah Aminah (HSA), Johor Bahru, Malaysia was conducted. In 2002, 399 and 1307 children with AGE were admitted to UMMC and HSA, respectively. Two hundred and eighty-eight (72%) stool samples from UMMC and 901 (69%) samples from HSA were analysed. Rotavirus was the most common aetiological agent identified in both centres (average 32%; UMMC 35%, HSA 30%, P = 0.94). The peak age group for rotavirus-related hospitalisation was 24-35 months for UMMC and 12-23 months for HSA. Nine percent of patients hospitalised for rotavirus infection in UMMC and 22% of patients in HSA were older than 5 years of age. An outbreak of rotavirus infection within the communities served by both centres resulting in an increase in hospital admissions of rotavirus gastroenteritis was observed in both units from January to March 2002. The peak age group for rotavirus-related hospital admission in this study was much older, between 12 to 35 months. It is uncertain whether this was related to the outbreak of rotavirus gastroenteritis observed within two urban areas from January to March 2002 causing re-infection with rotavirus in older children.

  18. JAK2 aberrations in childhood B-cell precursor acute lymphoblastic leukemia

    Science.gov (United States)

    de Goffau-Nobel, Willemieke; Hoogkamer, Alex Q.; Boer, Judith M.; Boeree, Aurélie; van de Ven, Cesca; Koudijs, Marco J.; Besselink, Nicolle J.M.; de Groot-Kruseman, Hester A.; Zwaan, Christian Michel; Horstmann, Martin A.; Pieters, Rob; den Boer, Monique L.

    2017-01-01

    JAK2 abnormalities may serve as target for precision medicines in pediatric B-cell precursor acute lymphoblastic leukemia (BCP-ALL). In the current study we performed a screening for JAK2 mutations and translocations, analyzed the clinical outcome and studied the efficacy of two JAK inhibitors in primary BCP-ALL cells. Importantly, we identify a number of limitations of JAK inhibitor therapy. JAK2 mutations mainly occurred in the poor prognostic subtypes BCR-ABL1-like and non- BCR-ABL1-like B-other (negative for sentinel cytogenetic lesions). JAK2 translocations were restricted to BCR-ABL1-like cases. Momelotinib and ruxolitinib were cytotoxic in both JAK2 translocated and JAK2 mutated cells, although efficacy in JAK2 mutated cells highly depended on cytokine receptor activation by TSLP. However, our data also suggest that the effect of JAK inhibition may be compromised by mutations in alternative survival pathways and microenvironment-induced resistance. Furthermore, inhibitors induced accumulation of phosphorylated JAK2Y1007, which resulted in a profound re-activation of JAK2 signaling upon release of the inhibitors. This preclinical evidence implies that further optimization and evaluation of JAK inhibitor treatment is necessary prior to its clinical integration in pediatric BCP-ALL. PMID:29163799

  19. Genomic and transcriptional landscape of P2RY8-CRLF2-positive childhood acute lymphoblastic leukemia

    Science.gov (United States)

    Vesely, C; Frech, C; Eckert, C; Cario, G; Mecklenbräuker, A; zur Stadt, U; Nebral, K; Kraler, F; Fischer, S; Attarbaschi, A; Schuster, M; Bock, C; Cavé, H; von Stackelberg, A; Schrappe, M; Horstmann, M A; Mann, G; Haas, O A; Panzer-Grümayer, R

    2017-01-01

    Children with P2RY8-CRLF2-positive acute lymphoblastic leukemia have an increased relapse risk. Their mutational and transcriptional landscape, as well as the respective patterns at relapse remain largely elusive. We, therefore, performed an integrated analysis of whole-exome and RNA sequencing in 41 major clone fusion-positive cases including 19 matched diagnosis/relapse pairs. We detected a variety of frequently subclonal and highly instable JAK/STAT but also RTK/Ras pathway-activating mutations in 76% of cases at diagnosis and virtually all relapses. Unlike P2RY8-CRLF2 that was lost in 32% of relapses, all other genomic alterations affecting lymphoid development (58%) and cell cycle (39%) remained stable. Only IKZF1 alterations predominated in relapsing cases (P=0.001) and increased from initially 36 to 58% in matched cases. IKZF1’s critical role is further corroborated by its specific transcriptional signature comprising stem cell features with signs of impaired lymphoid differentiation, enhanced focal adhesion, activated hypoxia pathway, deregulated cell cycle and increased drug resistance. Our findings support the notion that P2RY8-CRLF2 is dispensable for relapse development and instead highlight the prominent rank of IKZF1 for relapse development by mediating self-renewal and homing to the bone marrow niche. Consequently, reverting aberrant IKAROS signaling or its disparate programs emerges as an attractive potential treatment option in these leukemias. PMID:27899802

  20. Impact of genetic polymorphisms on chemotherapy toxicity in childhood acute lymphoblastic leukemia

    Directory of Open Access Journals (Sweden)

    Guillermo eGervasini

    2012-11-01

    Full Text Available The efficacy of chemotherapy in pediatric acute lymphoblastic leukemia (ALL patients has significantly increased in the last twenty years; as a result, the focus of research is slowly shifting from trying to increase survival rates to reduce chemotherapy-related toxicity.At the present time, the cornerstone of therapy for ALL is still formed by a reduced number of drugs with a highly toxic profile. In recent years, a number of genetic polymorphisms have been identified that can play a significant role in modifying the pharmacokinetics and pharmacodynamics of these drugs. The best example is that of the TPMT gene, whose genotyping is being incorporated to clinical practice in order to individualize doses of mercaptopurine. However, there are additional genes that are relevant for the metabolism, activity and/or transport of other chemotherapy drugs that are widely use in ALL, such as methotrexate, cyclophosphamide, vincristine, L-asparaginase, etoposide, cytarabine or cytotoxic antibiotics. These genes can also be affected by genetic alterations that could therefore have clinical consequences.In this review we will discuss recent data on this field, with special focus on those polymorphisms that could be used in clinical practice to tailor chemotherapy for ALL in order to reduce the occurrence of serious adverse effects.

  1. Psychological Impact of Chemotherapy for Childhood Acute Lymphoblastic Leukemia on Patients and Their Parents.

    Science.gov (United States)

    Sherief, Laila M; Kamal, Naglaa M; Abdalrahman, Hadel M; Youssef, Doaa M; Abd Alhady, Mohamed A; Ali, Adel S A; Abd Elbasset, Maha Aly; Hashim, Hiatham M

    2015-12-01

    To assess the self-esteem of pediatric patients on chemotherapy for acute lymphoblastic leukemia (ALL) and psychological status of their parents.The psychological status of 178 children receiving chemotherapy for ALL and their parents was assessed using parenting stress index (PSI) to determine the degree of stress the parents are exposed to using parent's and child's domains. Self-esteem Scale was used to determine the psychological status of patients.The study revealed significant low level of self-esteem in 84.83% of patients. Their parents had significant psychological stress. PSI was significantly associated with parents' low sense of competence, negative attachment to their children, feeling of high restriction, high depression, poor relation to spouse, high social isolation variables of parent's domains. It was significantly associated with low distraction, negative parents' reinforcement, low acceptability, and high demanding variables of child's domains. Long duration of disease was the most detrimental factor among demographic data of the patients.Chemotherapy for ALL has a significant impact on the psychological status of both patients and their parents with high prevalence of low self-esteem in children and high degree of stress in their parents.

  2. Childhood acute pyelonephritis: comparison of power Doppler sonography and Tc-DMSA scintigraphy

    Energy Technology Data Exchange (ETDEWEB)

    Stogianni, Aggeliki; Oikonomou, Ippoliti; Dimitriadis, Athanasios [Aristotle University of Thessaloniki, Department of Radiology, AHEPA Hospital, Thessaloniki (Greece); Nikolopoulos, Panagiotis [424 Army Hospital, Department of Radiology, Thessaloniki (Greece); Gatzola, Magdalini [Aristotle University of Thessaloniki, 2nd Paediatric Clinic, AHEPA Hospital, Thessaloniki (Greece); Balaris, Vassilios [Aristotle University of Thessaloniki, Department of Nuclear Medicine, AHEPA Hospital, Thessaloniki (Greece); Farmakiotis, Dimitrios [Infectious Diseases Hospital of Thessaloniki, Department of Medicine, Thessaloniki (Greece)

    2007-07-15

    Tc 99m DMSA scintigraphy is regarded as the gold standard for the detection and localization of acute pyelonephritis (APN) in children. Power Doppler sonography (PD US) is a radiation-free and cost-effective technique that could be useful in the diagnosis of APN in children. To compare the predictive value of PD US with DMSA scintigraphy in the diagnosis of APN in children. A total of 74 neonates and children with clinical findings consistent with possible upper urinary tract infection were evaluated with PD US and DMSA scintigraphy. Children with anatomic (grey-scale) abnormalities were excluded. A total of 147 kidneys were examined within the first 48 h after the onset of symptoms. Each kidney was divided into three zones (upper, middle, and lower third). APN was diagnosed by PD US in 46 kidneys. Sensitivity and specificity for detecting APN using DMSA scintigraphy as the reference standard were 73.8% and 85.7%, respectively. There was good agreement between PD US and DMSA scintigraphy in the localization of lesions. In clinically suspected APN, PD US has acceptable specificity and sensitivity, if performed within the first 48 h and could be helpful in neonates and children under 3 months of age in whom the use of scintigraphy is generally discouraged. (orig.)

  3. Anthropometry in Long-Term Survivors of Acute Lymphoblastic Leukemia in Childhood and Adolescence.

    Science.gov (United States)

    Collins, Laura; Beaumont, Lesley; Cranston, Amy; Savoie, Stefanie; Nayiager, Trishana; Barr, Ronald

    2017-06-01

    Body mass index (BMI) is an inadequate measure of nutritional status in children and adolescents with cancer as it does not distinguish muscle from adipose tissue. However, arm anthropometry offers simple assessments of fat mass and lean body mass; especially valuable in low- and middle-income countries where the great majority of young people with cancer live and access to sophisticated expensive measures of body composition is markedly limited. The nutritional status of 75 long-term survivors of acute lymphoblastic leukemia was assessed by arm anthropometry, in addition to BMI, in a cross-sectional cohort study. Normal ranges for triceps skin fold thickness (TSFT, a surrogate for fat mass) and mid-upper arm circumference (MUAC, a surrogate for lean body mass) were between the 15th and 85th percentiles for age and sex. Overweight/obesity was classified as a TSFT >85th percentile and sarcopenia as an MUAC obesity was identified in 1/3 of subjects by a BMI >25 and by TSFT; and 20% of the subjects had a TSFT >95th percentile. Only two subjects were sarcopenic. None met the combined criteria for sarcopenic obesity. TSFT and MUAC/height indices did not add sensitivity to identification of sarcopenia or obesity. TSFT is a useful measure of overweight/obesity in this population, but MUAC does not identify a notable proportion with sarcopenia. Further resolution may be provided by more sophisticated measures of body composition.

  4. Promoter DNA methylation pattern identifies prognostic subgroups in childhood T-cell acute lymphoblastic leukemia.

    Directory of Open Access Journals (Sweden)

    Magnus Borssén

    Full Text Available BACKGROUND: Treatment of pediatric T-cell acute lymphoblastic leukemia (T-ALL has improved, but there is a considerable fraction of patients experiencing a poor outcome. There is a need for better prognostic markers and aberrant DNA methylation is a candidate in other malignancies, but its potential prognostic significance in T-ALL is hitherto undecided. DESIGN AND METHODS: Genome wide promoter DNA methylation analysis was performed in pediatric T-ALL samples (n = 43 using arrays covering >27000 CpG sites. Clinical outcome was evaluated in relation to methylation status and compared with a contemporary T-ALL group not tested for methylation (n = 32. RESULTS: Based on CpG island methylator phenotype (CIMP, T-ALL samples were subgrouped as CIMP+ (high methylation and CIMP- (low methylation. CIMP- T-ALL patients had significantly worse overall and event free survival (p = 0.02 and p = 0.001, respectively compared to CIMP+ cases. CIMP status was an independent factor for survival in multivariate analysis including age, gender and white blood cell count. Analysis of differently methylated genes in the CIMP subgroups showed an overrepresentation of transcription factors, ligands and polycomb target genes. CONCLUSIONS: We identified global promoter methylation profiling as being of relevance for subgrouping and prognostication of pediatric T-ALL.

  5. Increased μ-Calpain Activity in Blasts of Common B-Precursor Childhood Acute Lymphoblastic Leukemia Correlates with Their Lower Susceptibility to Apoptosis.

    Directory of Open Access Journals (Sweden)

    Anna Mikosik

    Full Text Available Childhood acute lymphoblastic leukemia (ALL blasts are characterized by inhibited apoptosis promoting fast disease progress. It is known that in chronic lymphocytic and acute myeloid leukemias the reduced apoptosis is strongly related with the activity of calpain-calpastatin system (CCS composed of cytoplasmic proteases--calpains--performing the modulatory proteolysis of key proteins involved in cell proliferation and apoptosis, and of their endogenous inhibitor--calpastatin. Here, the CCS protein abundance and activity was for the first time studied in childhood ALL blasts and in control bone marrow CD19+ B cells by semi-quantitative flow cytometry and western blotting of calpastatin fragments resulting from endogenous calpain activity. Significantly higher μ-calpain (CAPN1 gene transcription, protein amounts and activity (but not those of m-calpain, with calpastatin amount and transcription of its gene (CAST greatly varying were observed in CD19(+ ALL blasts compared to control cells. Significant inverse relation between the amount/activity of calpain and spontaneous apoptosis was noted. Patients older than 10 years (considered at higher risk displayed increased amounts and activities of blast calpain. Finally, treatment of blasts with the tripeptide calpain inhibitors II and IV significantly and in dose-dependent fashion increased the percentage of blasts entering apoptosis. Together, these findings make the CCS a potential new predictive tool and therapeutic target in childhood ALL.

  6. Recent advances in the diagnosis and management of childhood acute promyelocytic leukemia

    Directory of Open Access Journals (Sweden)

    Eun Sun Yoo

    2011-03-01

    Full Text Available Since the successful introduction of all-trans-retinoic acid (ATRA and its combination with anthracycline-containing chemotherapy, the prognosis for acute promyelocytic leukemia (APL has markedly improved. With ATRA and anthracycline-based-chemotherapy, the complete remission rate is greater than 90%, and the long-term survival rate is 70&#8210;89%. Moreover, arsenic trioxide (ATO, which was introduced for APL treatment in 1994, resulted in excellent remission rates in relapsed patients with APL, and more recently, several clinical studies have been designed to explore its role in initial therapy either alone or in combination with ATRA. APL is a rare disease in children and is frequently associated with hyperleukocytosis, which is a marker for higher risk of relapse and an increased incidence of microgranular morphology. The frequency of occurrence of the promyelocytic leukemia/ retinoic acid receptor-alpha (PML/RAR?#6752;isoforms bcr 2 and bcr 3 is higher in children than in adults. Although recent clinical studies have reported comparable long-term survival rates in patients with APL, therapy for APL in children is challenging because of the risk of early death and the potential long-term cardiac toxicity resulting from the need to use high doses of anthracyclines. Additional prospective, randomized, large clinical trials are needed to address several issues in pediatric APL and to possibly minimize or eliminate the need for chemotherapy by combining ATRA and ATO. In this review article, we discuss the molecular pathogenesis, diagnostic progress, and most recent therapeutic advances in the treatment of children with APL.

  7. Spectrum of centrosome autoantibodies in childhood varicella and post-varicella acute cerebellar ataxia

    Directory of Open Access Journals (Sweden)

    Stinton Laura M

    2003-09-01

    Full Text Available Abstract Background Sera from children with post-varicella infections have autoantibodies that react with centrosomes in brain and tissue culture cells. We investigated the sera of children with infections and post-varicella ataxia and related conditions for reactivity to five recombinant centrosome proteins: γγ-enolase, pericentrin, ninein, PCM-1, and Mob1. Methods Sera from 12 patients with acute post-varicella ataxia, 1 with post-Epstein Barr virus (EBV ataxia, 5 with uncomplicated varicella infections, and other conditions were tested for reactivity to cryopreserved cerebellum tissue and recombinant centrosome proteins. The distribution of pericentrin in the cerebellum was studied by indirect immunofluorescence (IIF using rabbit antibodies to the recombinant protein. Antibodies to phospholipids (APL were detected by ELISA. Results Eleven of 12 children with post-varicella ataxia, 4/5 children with uncomplicated varicella infections, 1/1 with post-EBV ataxia, 2/2 with ADEM, 1/2 with neuroblastoma and ataxia, and 2/2 with cerebellitis had antibodies directed against 1 or more recombinant centrosome antigens. Antibodies to pericentrin were seen in 5/12 children with post-varicella ataxia but not in any of the other sera tested. IIF demonstrated that pericentrin is located in axons and centrosomes of cerebellar cells. APL were detected in 75% of the sera from children with post-varicella ataxia and 50% of children with varicella without ataxia and in none of the controls. Conclusion This is the first study to show the antigen specificity of anti-centrosome antibodies in children with varicella. Our data suggest that children with post-varicella ataxia have unique autoantibody reactivity to pericentrin.

  8. Mercaptopurine/Methotrexate Maintenance Therapy of Childhood Acute Lymphoblastic Leukemia: Clinical Facts and Fiction

    Science.gov (United States)

    Nielsen, Stine N.; Frandsen, Thomas L.; Nersting, Jacob

    2014-01-01

    The antileukemic mechanisms of 6-mercaptopurine (6MP) and methotrexate (MTX) maintenance therapy are poorly understood, but the benefits of several years of myelosuppressive maintenance therapy for acute lymphoblastic leukemia are well proven. Currently, there is no international consensus on drug dosing. Because of significant interindividual and intraindividual variations in drug disposition and pharmacodynamics, vigorous dose adjustments are needed to obtain a target degree of myelosuppression. As the normal white blood cell counts vary by patients’ ages and ethnicity, and also within age groups, identical white blood cell levels for 2 patients may not reflect the same treatment intensity. Measurements of intracellular levels of cytotoxic metabolites of 6MP and MTX can identify nonadherent patients, but therapeutic target levels remains to be established. A rise in serum aminotransferase levels during maintenance therapy is common and often related to high levels of methylated 6MP metabolites. However, except for episodes of hypoglycemia, serious liver dysfunction is rare, the risk of permanent liver damage is low, and aminotransferase levels usually normalize within a few weeks after discontinuation of therapy. 6MP and MTX dose increments should lead to either leukopenia or a rise in aminotransferases, and if neither is experienced, poor treatment adherence should be considered. The many genetic polymorphisms that determine 6MP and MTX disposition, efficacy, and toxicity have precluded implementation of pharmacogenomics into treatment, the sole exception being dramatic 6MP dose reductions in patients who are homozygous deficient for thiopurine methyltransferase, the enzyme that methylates 6MP and several of its metabolites. In conclusion, maintenance therapy is as important as the more intensive and toxic earlier treatment phases, and often more challenging. Ongoing research address the applicability of drug metabolite measurements for dose adjustments

  9. Overlapping features of polymyositis and inclusion body myositis in HIV-infected patients

    Science.gov (United States)

    Lloyd, Thomas E.; Pinal-Fernandez, Iago; Michelle, E. Harlan; Christopher-Stine, Lisa; Pak, Katherine; Sacktor, Ned

    2017-01-01

    Objective: To characterize patients with myositis with HIV infection. Methods: All HIV-positive patients with myositis seen at the Johns Hopkins Myositis Center from 2003 to 2013 were included in this case series. Muscle biopsy features, weakness pattern, serum creatine kinase (CK) level, and anti–nucleotidase 1A (NT5C1A) status of HIV-positive patients with myositis were assessed. Results: Eleven of 1,562 (0.7%) patients with myositis were HIV-positive. Myositis was the presenting feature of HIV infection in 3 patients. Eight of 11 patients had weakness onset at age 45 years or less. The mean time from the onset of weakness to the diagnosis of myositis was 3.6 years (SD 3.2 years). The mean of the highest measured CK levels was 2,796 IU/L (SD 1,592 IU/L). On muscle biopsy, 9 of 10 (90%) had endomysial inflammation, 7 of 10 (70%) had rimmed vacuoles, and none had perifascicular atrophy. Seven of 11 (64%) patients were anti-NT5C1A-positive. Upon presentation, all had proximal and distal weakness. Five of 6 (83%) patients followed 1 year or longer on immunosuppressive therapy had improved proximal muscle strength. However, each eventually developed weakness primarily affecting wrist flexors, finger flexors, knee extensors, or ankle dorsiflexors. Conclusions: HIV-positive patients with myositis may present with some characteristic polymyositis features including young age at onset, very high CK levels, or proximal weakness that improves with treatment. However, all HIV-positive patients with myositis eventually develop features most consistent with inclusion body myositis, including finger and wrist flexor weakness, rimmed vacuoles on biopsy, or anti-NT5C1A autoantibodies. PMID:28283597

  10. Impact of sleep, fatigue, and systemic inflammation on neurocognitive and behavioral outcomes in long-term survivors of childhood acute lymphoblastic leukemia.

    Science.gov (United States)

    Cheung, Yin Ting; Brinkman, Tara M; Mulrooney, Daniel A; Mzayek, Yasmin; Liu, Wei; Banerjee, Pia; Panoskaltsis-Mortari, Angela; Srivastava, Deokumar; Pui, Ching-Hon; Robison, Leslie L; Hudson, Melissa M; Krull, Kevin R

    2017-09-01

    Long-term survivors of childhood acute lymphoblastic leukemia (ALL) are at risk for neurocognitive impairment, which may be associated with fatigue, sleep problems, systemic inflammation, and oxidative stress. We examined these associations among survivors of childhood ALL treated with chemotherapy only. Survivors of childhood ALL (male, n = 35 and female, n = 35; mean age, 14.3 years [standard deviation, 4.7 years] and mean years from diagnosis, 7.4 years [standard deviation, 1.9 years]) completed neurocognitive testing, behavioral ratings, and reported sleep quality and fatigue symptoms 5 years after diagnosis. Serum was collected concurrently and assayed for interleukin (IL)-1β and IL-6, tumor necrosis factor α (TNF-α), high-sensitivity C-reactive protein (hsCRP), malondialdehyde, myeloperoxidase, and oxidized low-density lipoprotein. General linear modeling was used to assess associations among biomarkers and functional outcomes, adjusting for age and stratified by sex. Survivors performed worse than population norms on executive function and processing speed and reported more behavioral problems (P fatigue was associated with poor executive function (r = 0.41; P = .02), processing speed (r = 0.56; P fatigue measures were observed. Neurocognitive function in female survivors of childhood ALL appears more susceptible to the effects of sleep disturbance and fatigue. Systemic inflammation may play a role in neurocognitive impairment and behavioral symptoms. Cancer 2017;123:3410-9. © 2017 American Cancer Society. © 2017 American Cancer Society.

  11. FBXW7 and NOTCH1 mutations in childhood T cell acute lymphoblastic leukaemia and T cell non-Hodgkin lymphoma.

    Science.gov (United States)

    Park, Myoung-Ja; Taki, Tomohiko; Oda, Megumi; Watanabe, Tomoyuki; Yumura-Yagi, Keiko; Kobayashi, Ryoji; Suzuki, Nobuhiro; Hara, Junichi; Horibe, Keizo; Hayashi, Yasuhide

    2009-04-01

    Mutation analysis of FBXW7 and NOTCH1 genes was performed in 55 T cell acute lymphoblastic leukaemia (T-ALL) and 14 T cell non-Hodgkin lymphoma (T-NHL) patients who were treated on the Japan Association of Childhood Leukaemia Study (JACLS) protocols ALL-97 and NHL-98. FBXW7 and/or NOTCH1 mutations were found in 22 (40.0%) of 55 T-ALL and 7 (50.0%) of 14 T-NHL patients. FBXW7 mutations were found in 8 (14.6%) of 55 T-ALL and 3 (21.4%) of 14 T-NHL patients, and NOTCH1 mutations in 17 (30.9%) of 55 T-ALL and 6 (42.9%) of 14 T-NHL patients. Three (5.4%) T-ALL and two (1.4%) T-NHL patients had mutations in both FBXW7 and NOTCH1. FBXW7 mutations included one insertion, one deletion, one deletion/insertion and nine missense mutations. NOTCH1 mutations were detected in the heterodimerization domain (HD) in 15 cases, in the PEST domain in seven cases, and in both the HD and PEST domains in one case. Five-year event-free survival and overall survival for patients with FBXW7 and/or NOTCH1 mutations were 95.5% (95% CI, 71.9-99.4%) and 100% respectively, suggesting that T-ALL patients with FBXW7 and/or NOTCH1 mutation represent a good prognosis compared to those without FBXW7 and/or NOTCH1 mutations (63.6%, P = 0.007 and 78.8%, P = 0.023, respectively).

  12. Weight change during childhood acute lymphoblastic leukemia induction therapy predicts obesity: a report from the Children's Oncology Group.

    Science.gov (United States)

    Withycombe, Janice S; Smith, Lynette M; Meza, Jane L; Merkle, Carrie; Faulkner, Melissa Spezia; Ritter, Leslie; Seibel, Nita L; Moore, Ki

    2015-03-01

    Obesity is a well documented problem associated with childhood acute lymphoblastic leukemia (ALL) with increasing body mass index often observed during therapy. This study aims to evaluate if weight gain, early in therapy, is predictive of obesity at the end of treatment. In this secondary analysis, data from 1,017 high-risk ALL patients previously treated on a Children's Oncology Group protocol (CCG study 1961) were reviewed. Logistic regression was used to examine whether change in BMI z-score at Induction or Delayed Intensification (DI) 1 were predictive of obesity at the end of therapy. The BMI z-score at the beginning of Induction and the change in BMI z-score during Induction were both significant predictors of obesity at the end of therapy. The change in BMI z-score during cycle 1 of DI was not found to be associated with obesity. It is well know that obesity at the beginning of therapy is predictive of obesity at the end of ALL therapy. The new, and more important, finding from this study is that even after adjusting for baseline weight, the increase in BMI z-scores during induction was an independent predictor of obesity at the end of therapy. Most researchers agree that prevention is the best form of treatment for obesity as it is difficult to reverse once it is present. This study suggests that monitoring weight trends during Induction may be useful in guiding healthcare practitioners in identifying which patients are at highest risk for obesity development so that early intervention may occur. © 2014 Wiley Periodicals, Inc.

  13. Deficient innate immunity, thymopoiesis, and gene expression response to radiation in survivors of childhood acute lymphoblastic leukemia.

    Science.gov (United States)

    Leung, Wing; Neale, Geoffrey; Behm, Fred; Iyengar, Rekha; Finkelstein, David; Kastan, Michael B; Pui, Ching-Hon

    2010-06-01

    Survivors of childhood acute lymphoblastic leukemia (ALL) are at an increased risk of developing secondary malignant neoplasms. Radiation and chemotherapy can cause mutations and cytogenetic abnormalities and induce genomic instability. Host immunity and appropriate DNA damage responses are critical inhibitors of carcinogenesis. Therefore, we sought to determine the long-term effects of ALL treatment on immune function and response to DNA damage. Comparative studies on 14 survivors in first complete remission and 16 siblings were conducted. In comparison to siblings on the cells that were involved in adaptive immunity, the patients had either higher numbers (CD19+ B cells and CD4+CD25+ T regulatory cells) or similar numbers (alphabetaT cells and CD45RO+/RA- memory T cells) in the blood. In contrast, patients had lower numbers of all lymphocyte subsets involved in innate immunity (gammadeltaT cells and all NK subsets, including KIR2DL1+ cells, KIR2DL2/L3+ cells, and CD16+ cells), and lower natural cytotoxicity against K562 leukemia cells. Thymopoiesis was lower in patients, as demonstrated by less CD45RO-/RA+ naïve T cell and less SjTREC levels in the blood, whereas the Vbeta spectratype complexity score was similar. Array of gene expression response to low-dose radiation showed that about 70% of the probesets had a reduced response in patients. One of these genes, SCHIP-1, was also among the top-ranked single nucleotide polymorphisms (SNPs) during the whole-genome scanning by SNP microarray analysis. ALL survivors were deficient in innate immunity, thymopoiesis, and DNA damage responses to radiation. These defects may contribute to their increased likelihood of second malignancy. Copyright (c) 2010 Elsevier Ltd. All rights reserved.

  14. Prevalence and predictors of anxiety and depression after completion of chemotherapy for childhood acute lymphoblastic leukemia: A prospective longitudinal study

    Science.gov (United States)

    Kunin-Batson, Alicia S.; Lu, Xiaomin; Balsamo, Lyn; Graber, Kelsey; Devidas, Meenakshi; Hunger, Stephen P.; Carroll, William L.; Winick, Naomi J.; Mattano, Leonard A.; Maloney, Kelly W.; Kadan-Lottick, Nina S.

    2016-01-01

    Background The months immediately following completion of treatment for childhood acute lymphoblastic leukemia (ALL) are often regarded as a stressful time for children and families. In this prospective, longitudinal study, the prevalence and predictors of anxiety and depressive symptoms after completion of treatment were examined. Methods Participants included 160 children (ages 2-9 years) with standard-risk ALL enrolled on Children's Oncology Group protocol AALL0331. Parents completed standardized rating scales of children's emotional-behavioral functioning, and measures of coping and family functioning at ∼1, 6, and 12 months after diagnosis, and again 3 months following completion of chemotherapy. Results Three months off-therapy, 24% of survivors had at-risk/clinically elevated anxiety scores and 28% had elevated depression scores, significantly higher than the expected 15% in the general population (p=0.028 and 0.001, respectively). Patients with elevated anxiety one-month post-diagnosis were at greater risk for off–therapy anxiety (OR=4.1; 95% CI, 1.31-12.73, p=0.022), and those with elevated depressive symptoms 6-months post-diagnosis were at greater risk for off-therapy depression (OR=7.88, 95% CI, 2.61-23.81, p=0.0002). In adjusted longitudinal analyses, unhealthy family functioning (p=0.008), and less reliance on social support coping (p=0.009) were associated with risk for emotional distress. Children from Spanish-speaking families (p=0.05) were also at greater risk for distress. Conclusions A significant proportion of children experience emotional distress during and after therapy for ALL. These data provide a compelling rationale for targeted early screening, and psychosocial interventions to support family functioning and coping skills. PMID:27028090

  15. Merits of magnetic resonance imaging (MRI) for the diagnosis of myositis ossificans circumscripta. Apport de l'imagerie par resonance magnetique (IRM) dans le diagnostic de la myosite ossifiante circonscrite (MOC)

    Energy Technology Data Exchange (ETDEWEB)

    Bouchardy, L.; Garcia, J. (Hopital Cantonal Geneve, Geneva (Switzerland))

    1994-02-01

    A retrospective study of 5 cases, 4 of myositis ossificans circumscripta (MOC) and 1 of non-ossificans myositis, is presented. The clinical presentation was a painful soft-tissues swelling, and the final diagnosis was established by biopsy in 3 cases and clinical evolution in 2 cases. Different types of imaging techniques were performed: 4 MRI, 2 arteriographies, 3 Tc 99m scintigraphies, 3 US, 3 CT and plain film radiographs for all patients. MOC is a benign process (as opposed to myositis ossificans progressiva, which is an hereditary pathology with a fatal prognosis) with 3 phases of evolution: an acute or pseudo-inflammatory phase, a sub-acute or pseudo-tumoral phase and a chronic phase with a spontaneous healing. The radiologic diagnostic findings are dependent of the phase of the disease. The calcifications are seen earlier with scintigraphy than plain films, with US being less helpful. A heterogenous mass and calcifications are seen with CT. MRI allows the characterization of oedema during the acute phase and sometimes can exclude a malignant process. MRI is the best method for an early diagnosis, the differential diagnosis and to follow the evolution. (authors). 26 refs., 8 figs.

  16. Maintenance therapy of childhood acute lymphoblastic leukemia revisited—Should drug doses be adjusted by white blood cell, neutrophil, or lymphocyte counts?

    DEFF Research Database (Denmark)

    Schmiegelow, Kjeld; Nersting, Jacob; Nielsen, Stine Nygaard

    2016-01-01

    BACKGROUND: 6-Mercaptopurine (6MP) and methotrexate (MTX) based maintenance therapy is a critical phase of childhood acute lymphoblastic leukemia treatment. Wide interindividual variations in drug disposition warrant frequent doses adjustments, but there is a lack of international consensus on dose...... levels of 6-thioguanine nucleotides or MTX (including its polyglutamates) to be significant relapse predictors. The parameters significantly associated with risk of relapse (N = 83) were male sex (hazard ratio [HR] 2.0 [1.3-3.1], P = 0.003), WBC at diagnosis (HR = 1.04 per 10 × 10(9) /l rise [1...

  17. High white blood cell count at diagnosis of childhood acute lymphoblastic leukaemia: biological background and prognostic impact. Results from the NOPHO ALL-92 and ALL-2000 studies

    DEFF Research Database (Denmark)

    Vaitkeviciene, G; Forestier, E; Hellebostad, M

    2011-01-01

    Prognostic impact of peripheral blood white blood cell count (WBC) at the diagnosis of childhood acute lymphoblastic leukaemia (ALL) was evaluated in a population-based consecutive series of 2666 children aged 1–15 treated for ALL between 1992 and 2008 in the five Nordic countries (Denmark, Finland.......58) and for T-ALL (pEFS5y 0.71 vs. 0.38). Whether the inferior EFS for the subset of patients with high WBC and slow initial response to treatment reflects rare or overlooked cytogenetic aberrations as well as the factors that determine WBC levels at diagnosis awaits exploration....

  18. Hepatic sinusoidal obstruction syndrome during maintenance therapy of childhood acute lymphoblastic leukemia is associated with continuous asparaginase therapy and mercaptopurine metabolites

    DEFF Research Database (Denmark)

    Toksvang, Linea Natalie; De Pietri, Silvia; Nielsen, Stine N.

    2017-01-01

    BACKGROUND: Hepatic sinusoidal obstruction syndrome (SOS) during treatment of childhood acute lymphoblastic leukemia (ALL) has mainly been associated with 6-thioguanine. The occurrence of several SOS cases after the introduction of extended pegylated asparaginase (PEG-asparaginase) therapy...... in the Nordic Society of Paediatric Haematology and Oncology (NOPHO) ALL2008 protocol led us to hypothesize that PEG-asparaginase, combined with other drugs, may trigger SOS during 6-thioguanine-free maintenance therapy. PROCEDURE: In children with ALL treated in Denmark according to the NOPHO ALL2008 protocol...... children receiving PEG-asparaginase biweekly, 29 developed SOS (≥2 criteria: hyperbilirubinemia, hepatomegaly, ascites, weight gain ≥2.5%, unexplained thrombocytopenia

  19. Diagnostic performance of a commercial immunoblot assay for myositis antibody testing.

    Science.gov (United States)

    Bundell, Chris; Rojana-Udomsart, Arada; Mastaglia, Frank; Hollingsworth, Peter; McLean-Tooke, Andrew

    2016-06-01

    The objective of this study was to establish a population based reference range for a commercial immunoblot assay detecting myositis specific autoantibodies (MSAs) and myositis associated autoantibodies (MAAs), and to assess the diagnostic performance of this reference range against the manufacturer's recommended ranges in a myositis patient cohort. A total of 124 patients from a myositis cohort and 197 healthy controls were serologically assessed using a commercial immunoblot containing eleven autoantigens (Jo-1, EJ, OJ, PL7, PL12, Mi-2, SRP, Ku, PMScl75, PMScl100 and Ro52) according to the manufacturer's instructions. Use of the manufacturer's reference ranges resulted in detection of MSAs in 19.4% of myositis patients and 9.1% of controls; MAAs were detected in 41.1% of myositis patients and 14.2% of controls. Reference values derived from the healthy control population resulted in significant differences in cut-off values for some autoantibodies, particularly Ro52 and PMScl75. Use of local reference ranges reduced detection of MSAs to 16.9% of myositis patients and 3% of healthy controls, with MAAs 23.4% of patients and 2% of healthy controls. Application of population based reference ranges resulted in significant differences in detection of MSAs and MAAs compared to the manufacturer's recommended ranges. Cut-off levels should be assessed to ensure suitability for the population tested. Copyright © 2016. Published by Elsevier B.V.

  20. Significance of myositis autoantibody in patients with idiopathic interstitial lung disease.

    Science.gov (United States)

    Song, Ju Sun; Hwang, Jiwon; Cha, Hoon-Suk; Jeong, Byeong-Ho; Suh, Gee Young; Chung, Man Pyo; Kang, Eun-Suk

    2015-05-01

    Some patients with interstitial lung disease (ILD) related to connective tissue disease (CTD) have a delayed diagnosis of the underlying CTD when the ILD is categorized as idiopathic. In this study, we evaluated the frequency of myositis autoantibodies in patients diagnosed with idiopathic ILD and investigated the clinical significance stemming from the presence of the antibodies. A total 32 patients diagnosed with idiopathic ILD were enrolled in this study. We analyzed a panel of 11 myositis autoantibody specificities in the patients using a line blot immunoassay. Then, we divided them into myositis autoantibody-positive and -negative groups and compared the clinical features and laboratory data between the two groups. Of the 32 idiopathic ILD patients, 12 patients had myositis autoantibodies encompassing 9 specificities, except for anti-Mi-2 and anti-PM-Scl 100 (12/32, 38%). Anti-synthetase autoantibodies including Jo-1, EJ, OJ, PL-7, and PL-12 were present in 7 patients (7/32, 22%). The group with myositis autoantibodies presented more frequently with the symptom of mechanic's hand and showed abnormal pulmonary function test results with low forced vital capacity, diffusing capacity for carbon monoxide, total lung capacity, and high lactate dehydrogenase values in blood when compared with the group without myositis antibodies. We strongly suggest that patients undergo an evaluation of myositis autoantibodies, if they are diagnosed with idiopathic ILD in the presence of clinical characteristics including mechanic's hand, arthralgia, and autoantibodies which are insufficient to make a diagnosis of a specific CTD category.

  1. International collaboration including patients is essential to develop new therapies for patients with myositis.

    Science.gov (United States)

    Lundberg, Ingrid E; Vencovsky, Jiri

    2017-05-01

    To discuss the needs for international collaborations between investigators in different disciplines working with myositis and with patients with myositis. Recent advances in detection of several myositis-specific autoantibodies that are associated with distinct clinical phenotypes, will enable studies in new well defined clinically homogenous subgroups of myositis This is likely to lead to development of new information on molecular pathogenesis that might be different in different myositis subgroups. Subgrouping patients according to autoantibody profile may also be important to assess outcome, to identify prognostic biomarkers and in clinical trials. As these are rare disorders international collaboration is essential to enrol large enough cohorts of the subgroups. To facilitate such collaboration we have developed a web-based international myositis register, www.euromyositis.eu, which includes validated outcome measures and patient reported outcome measures. This register is to support research but also to support decision-making in the clinic. We welcome investigators to join the Euromyositis register. Myositis is a heterogeneous disorder with varying treatment response and outcome. There is a high unmet need for new therapies which can only be achieved by increased knowledge on molecular disease mechanisms. Subgrouping patients according to autoantibody profile may be a new way forward to get a better understanding on disease mechanisms and to develop novel therapies.

  2. Idiopathic Inflammatory Myopathies; Association with Overlap Myositis and Syndromes: Classification, Clinical Characteristics, and Associated Autoantibodies

    Directory of Open Access Journals (Sweden)

    Pari Basharat

    2016-07-01

    Full Text Available Idiopathic inflammatory myopathies (IIM are traditionally identified as a group of disorders that target skeletal muscle due to autoimmune dysfunction. The IIM can be divided into subtypes based on certain clinical characteristics, and several classification schemes have been proposed. The predominant diagnostic criteria for IIM is the Bohan and Peter criteria, which subdivides IIM into primary polymyositis (PM, primary dermatomyositis (DM, myositis with another connective tissue disease, and myositis associated with cancer. However, this measure has been criticised for several reasons including lack of specific criteria to help distinguish between muscle biopsy findings of PM, DM, and immune-mediated necrotising myopathy, as well as the lack of identification of cases of overlap myositis (OM. Because of this issue, other classification criteria for IIM have been proposed, which include utilising myositis-associated antibodies and myositis-specific antibodies, as well as overlap features such as Raynaud’s phenomenon, polyarthritis, oesophageal abnormalities, interstitial lung disease, small bowel abnormalities such as hypomotility and malabsorption, and renal crises, amongst others. Indeed, the identification of autoantibodies associated with certain clinical phenotypes of myositis, in particular connective tissue disease-myositis overlap, has further helped divide IIM into distinct clinical subsets, which include OM and overlap syndromes (OS. This paper reviews the concepts of OM and OS as they pertain to IIM, including definitions in the literature, clinical characteristics, and overlap autoantibodies.

  3. Myositis Ossificans Traumatica Causing Ankylosis of the Elbow

    OpenAIRE

    Kanthimathi, B.; Udhaya Shankar, S.; Arun Kumar, K.; Narayanan, V. L.

    2014-01-01

    Myositis ossificans traumatica is an unusual complication following a muscle contusion injury. A significantly large myositic mass causing ankylosis of the elbow is even rarer. We report a 13-year-old boy who presented with a 14-month history of a fixed elbow with no movement and a palpable bony mass in the anterior aspect of the elbow. He had sustained significant trauma to the affected limb 1 month prior to onset of symptoms, which was managed by native massage and bandaging for 4 weeks. Th...

  4. Support for social rehabilitation of childhood acute lymphoblastic leukemia patients. Psychological and educational assessment by the K-ABC

    Energy Technology Data Exchange (ETDEWEB)

    Izumi, Mayuko [Ochanomizu Univ., Tokyo (Japan); Hosoya, Ryouta; Oohira, Mutsuro; Kaneko, Takashi; Matsushita, Taketsugu

    2000-10-01

    Intellectual impairment in pediatric acute lymphoblastic leukemia (ALL) is thought to be caused by the effect of treatment on the central nervous system. We therefore assessed the characteristics and tendencies of patients' cognitive ability by using the K-ABC (Kaufman Assessment Battery for Children), an intelligence test. The subjects were 28 patients treated for ALL (males 18, females 10, age 4.7-12.0 years). The patients who took the K-ABC test were divided into irradiation group (15 patients who received brain irradiation as prophylactic treatment) and a non-irradiation group (13 patients whose brain was not irradiated), and evaluated the results. The K-ABC consists of a cognition processing scale and an acquisition level, and the cognition processing scale consists of a sequential processing scale and simultaneous processing scale. Patients were assessed in regard to various factors: 1. sex, 2. age of onset, 3. length of hospital stay, 4. age at the time of irradiation, 5. radiation dose, 6. score on the cognition processing scale, and multiple comparisons were made based on analysis of variance, least significant differences (1, 2, 3, 6), and the t-test (4, 5). Sequential processing ability was impaired in the patients with impaired cognitive processing in both groups. Part of simultaneous processing ability (ability to understand spatial relationships) tended to be reduced in the irradiation group in addition to the impairment in sequential processing ability, and factors 1 and 4 influenced cognitive ability in the irradiation group. The ability of girls decreased more than in boys. When children were irradiated below 4 years of age, their ability decreased even more. Regardless of whether they had received radiation therapy, all of the patients had received chemotherapy, including methotrexate, etc., and the anticancer drugs may have reduced their cognitive ability. The reduction of simultaneous processing ability may have been caused by the addition

  5. Support for social rehabilitation of childhood acute lymphoblastic leukemia patients. Psychological and educational assessment by the K-ABC

    International Nuclear Information System (INIS)

    Izumi, Mayuko; Hosoya, Ryouta; Oohira, Mutsuro; Kaneko, Takashi; Matsushita, Taketsugu

    2000-01-01

    Intellectual impairment in pediatric acute lymphoblastic leukemia (ALL) is thought to be caused by the effect of treatment on the central nervous system. We therefore assessed the characteristics and tendencies of patients' cognitive ability by using the K-ABC (Kaufman Assessment Battery for Children), an intelligence test. The subjects were 28 patients treated for ALL (males 18, females 10, age 4.7-12.0 years). The patients who took the K-ABC test were divided into irradiation group (15 patients who received brain irradiation as prophylactic treatment) and a non-irradiation group (13 patients whose brain was not irradiated), and evaluated the results. The K-ABC consists of a cognition processing scale and an acquisition level, and the cognition processing scale consists of a sequential processing scale and simultaneous processing scale. Patients were assessed in regard to various factors: 1. sex, 2. age of onset, 3. length of hospital stay, 4. age at the time of irradiation, 5. radiation dose, 6. score on the cognition processing scale, and multiple comparisons were made based on analysis of variance, least significant differences (1, 2, 3, 6), and the t-test (4, 5). Sequential processing ability was impaired in the patients with impaired cognitive processing in both groups. Part of simultaneous processing ability (ability to understand spatial relationships) tended to be reduced in the irradiation group in addition to the impairment in sequential processing ability, and factors 1 and 4 influenced cognitive ability in the irradiation group. The ability of girls decreased more than in boys. When children were irradiated below 4 years of age, their ability decreased even more. Regardless of whether they had received radiation therapy, all of the patients had received chemotherapy, including methotrexate, etc., and the anticancer drugs may have reduced their cognitive ability. The reduction of simultaneous processing ability may have been caused by the addition of

  6. Increased visfatin levels are associated with higher disease activity in anti-Jo-1-positive myositis patients.

    Science.gov (United States)

    Hulejová, Hana; Kryštůfková, Olga; Mann, Heřman; Klein, Martin; Pavlíčková, Klára; Zámečník, Josef; Vencovský, Jiří; Šenolt, Ladislav

    2016-01-01

    The aim of this study was to evaluate serum levels of visfatin in anti-Jo-1-positive myositis patients, its expression in muscle tissue and to investigate potential relationships between visfatin, B-cell activating factor of the TNF family (BAFF), disease activity and anti-Jo-1 autoantibody levels. Serum levels of visfatin and BAFF were measured in 38 anti-Jo-1 positive myositis patients and 35 healthy subjects. Disease activity was evaluated by myositis disease activity assessment tool (MYOACT) using visual analogue scales (VAS) and by serum muscle enzymes. Visfatin expression was evaluated by immunohistochemistry in muscle tissue of myositis patients (n=10) and compared with non-inflammatory control muscle tissue samples from patients with myasthenia gravis (n=5). Serum visfatin and BAFF levels were significantly higher in myositis patients compared to healthy subjects and were associated with clinical muscle activity assessed by VAS. Only serum BAFF levels, but not visfatin levels, positively correlated with muscle enzyme concentrations and anti-Jo1 antibody levels. There was a positive correlation between visfatin and BAFF serum levels in myositis patients but a negative correlation was observed in healthy subjects. Visfatin expression was up-regulated in endomysial and perimysial inflammatory infiltrates of muscle tissue from myositis patients. Up-regulation of visfatin in myositis muscle tissue and an association between increased visfatin levels and muscle disease activity evaluated by MYOACT in anti-Jo-1 positive myositis patients could support possible role of visfatin in the pathogenesis of myositis.

  7. Influence of IL15 gene variations on the clinical features, treatment response and risk of developing childhood acute lymphoblastic leukemia in Latvian population.

    Science.gov (United States)

    Rots, Dmitrijs; Kreile, Madara; Nikulshin, Sergejs; Kovalova, Zhanna; Gailite, Linda

    2018-02-01

    Acute lymphoblastic leukemia (ALL) is the most common childhood malignancy. Modern treatment protocols allow achievement of long-term event-free survival rates in up to 85% of cases, although the treatment response varies among different patient groups. It is hypothesized that treatment response is influenced by the IL15 gene variations, although research results are conflicting. To analyze IL15 gene variations influence treatment response, clinical course and the risk of developing ALL we performed a case-control and family-based study. The study included 81 patients with childhood ALL. DNA samples of both or one biological parent were available for 62 of ALL patients and 130 age and gender adjusted healthy samples were used as a control group. Analyzed IL15 gene variations: rs10519612, rs10519613 and rs17007695 were genotyped using PCR-RFLP assay. Our results shows that IL15 gene variations haplotypes are associated with the risk of developing childhood ALL (p variations separately. The variations rs10519612 and rs1059613 in a recessive pattern of inheritance were associated with hyperdiploidy (p = 0.048). Analyzed genetic variations had no impact on other clinical features and treatment response (assessed by the minimal residual disease) in our study.

  8. Therapy-Related Myelodysplastic Syndrome Following Treatment for Childhood Acute Lymphoblastic Leukemia: Outcome of Patients Registered in the EWOG-MDS 98/06 Studies

    DEFF Research Database (Denmark)

    Strahm, Birgitte; Amann, Roland; De Moerloose, Barbara

    Objective: Therapy-related myelodysplastic syndrome (tMDS) following treatment of childhood acute lymphoblastic leukemia (ALL) is one of the most frequently observed secondary malignancies in survivors of childhood cancer. Allogeneic stem cell transplantation (SCT) is the only curative treatment....... This analysis was performed to asses the outcome of patients with tMDS following treatment for childhood ALL reported to the EWOG-MDS study group. Patients and Transplant Procedure: Forty-three patients (19 male/24 female) were diagnosed with tMDS between August 1989 and August 2009. The median age at diagnosis...... was 8.9 yrs (3.4–20.5). The median interval from diagnosis of ALL to the diagnosis of tMDS was 3.3 yrs (1.7–7.0). Five patients did not receive SCT and died due to progressive disease at a median of 5.6 mo after diagnosis. Thirty-eight patients were transplanted. One patient was excluded from...

  9. Brain Function in Young Patients Receiving Methotrexate for Acute Lymphoblastic Leukemia

    Science.gov (United States)

    2017-07-19

    Childhood B Acute Lymphoblastic Leukemia; Childhood T Acute Lymphoblastic Leukemia; Cognitive Side Effects of Cancer Therapy; Long-Term Effects Secondary to Cancer Therapy in Children; Neurotoxicity Syndrome; Psychological Impact of Cancer; Untreated Childhood Acute Lymphoblastic Leukemia

  10. Temporal relationship between cancer and myositis identifies two distinctive subgroups of cancers: impact on cancer risk and survival in patients with myositis.

    Science.gov (United States)

    Kang, Eun Ha; Lee, Sang Jin; Ascherman, Dana P; Lee, Yun Jong; Lee, Eun Young; Lee, Eun Bong; Song, Yeong Wook

    2016-09-01

    The aim was to compare standardized incidence ratios (SIRs) of cancers temporally related and unrelated to active myositis in patients with myositis. Fifty-two cancer cases were identified in 281 myositis patients. SIRs of cancers having temporal overlap with the active phase of myositis [cancers concurrent with active myositis (CAM), n = 30] and cancers not having such temporal overlap [cancers non-concurrent with active myositis (CNM), n = 22] were compared in 281 patients. Patients with CAM were older at diagnosis of myositis, had a greater tendency to be male, more frequent dysphagia and less frequent interstitial lung disease than patients with CNM. CAM SIR (95% CI) was 1.78 (1.19, 2.56) and CNM SIR 1.23 (0.75, 1.90). The peak SIR was observed in the seventh decade of life for CAM and in the third decade for CNM. When stratified by myositis-cancer intervals, CAM SIR was 9.94 (6.43, 14.67) within 1 year of myositis diagnosis, whereas no temporal relationship was found for CNM. Elevated SIRs were observed for oesophageal cancer [57.77 (11.91, 168.82)], non-Hodgkin's lymphoma [41.43 (13.45, 96.69)], adenocarcinoma of unknown primary origin [67.6 (18.42, 173.07]), lung cancer [7.27 (1.98, 18.61)] and ovarian cancer [19.15 (2.32, 69.17)] within 3 years of CAM diagnosis. The cancer stage at the time of diagnosis was more advanced in CAM than CNM (P < 0.001), with a correspondingly increased hazard ratio of mortality [4.3 (1.5, 12.7)] in patients with CAM vs CNM. A significantly elevated SIR was found for CAM, whereas there was a comparable SIR for CNM relative to the general population. Multiple types of cancers showed elevated SIRs among CAM, but none among CNM. Given that cancer stages in CAM were far advanced at diagnosis, mortality risk was greater in patients with CAM. © The Author 2016. Published by Oxford University Press on behalf of the British Society for Rheumatology. All rights reserved. For Permissions, please email: journals.permissions@oup.com.

  11. Differences in meiotic recombination rates in childhood acute lymphoblastic leukemia at an MHC class II hotspot close to disease associated haplotypes.

    Directory of Open Access Journals (Sweden)

    Pamela Thompson

    Full Text Available Childhood Acute Lymphoblastic Leukemia (ALL is a malignant lymphoid disease of which B-cell precursor- (BCP and T-cell- (T ALL are subtypes. The role of alleles encoded by major histocompatibility loci (MHC have been examined in a number of previous studies and results indicating weak, multi-allele associations between the HLA-DPB1 locus and BCP-ALL suggested a role for immunosusceptibility and possibly infection. Two independent SNP association studies of ALL identified loci approximately 37 kb from one another and flanking a strong meiotic recombination hotspot (DNA3, adjacent to HLA-DOA and centromeric of HLA-DPB1. To determine the relationship between this observation and HLA-DPB1 associations, we constructed high density SNP haplotypes of the 316 kb region from HLA-DMB to COL11A2 in childhood ALL and controls using a UK GWAS data subset and the software PHASE. Of four haplotype blocks identified, predicted haplotypes in Block 1 (centromeric of DNA3 differed significantly between BCP-ALL and controls (P = 0.002 and in Block 4 (including HLA-DPB1 between T-ALL and controls (P = 0.049. Of specific common (>5% haplotypes in Block 1, two were less frequent in BCP-ALL, and in Block 4 a single haplotype was more frequent in T-ALL, compared to controls. Unexpectedly, we also observed apparent differences in ancestral meiotic recombination rates at DNA3, with BCP-ALL showing increased and T-ALL decreased levels compared to controls. In silico analysis using LDsplit sotware indicated that recombination rates at DNA3 are influenced by flanking loci, including SNPs identified in childhood ALL association studies. The observed differences in rates of meiotic recombination at this hotspot, and potentially others, may be a characteristic of childhood leukemia and contribute to disease susceptibility, alternatively they may reflect interactions between ALL-associated haplotypes in this region.

  12. INTERSTITIAL LUNG-DISEASE AND MYOSITIS IN A PATIENT WITH SIMULTANEOUSLY OCCURRING SARCOIDOSIS AND SCLERODERMA

    NARCIS (Netherlands)

    GROEN, H; POSTMA, DS; KALLENBERG, CGM

    1993-01-01

    A patient initially presented with sarcoidosis in combination with myositis of sarcoid origin and Raynaud's phenomenon. During the course of his disease, he additionally developed scleroderma. Bronchoalveolar lavage, performed because of increase of interstitial markings in the presence of enlarged

  13. Allergy and acute leukaemia in children with Down syndrome: a population study. Report from the Mexican inter-institutional group for the identification of the causes of childhood leukaemia

    OpenAIRE

    Núñez-Enríquez, J C; Fajardo-Gutiérrez, A; Buchán-Durán, E P; Bernáldez-Ríos, R; Medina-Sansón, A; Jiménez-Hernández, E; Amador-Sanchez, R; Peñaloza-Gonzalez, J G; Paredes-Aguilera, R; Alvarez-Rodriguez, F J; Bolea-Murga, V; de Diego Flores-Chapa, J; Flores-Lujano, J; Bekker-Mendez, V C; Rivera-Luna, R

    2013-01-01

    Background: Allergies have been described as protective factors against the development of childhood acute leukaemia (AL). Our objective was to investigate the associations between allergy history and the development of AL and acute lymphoblastic leukaemia (ALL) in children with Down syndrome (DS). Methods: A case–control study was performed in Mexico City. The cases (n=97) were diagnosed at nine public hospitals, and the controls (n=222) were recruited at institutions for children with DS. O...

  14. Myositis complicating benzathine penicillin-G injection in a case of rheumatic heart disease

    Directory of Open Access Journals (Sweden)

    Joshua R. Francis

    2016-01-01

    Full Text Available A 7-year old boy developed myositis secondary to intramuscular injection of benzathine penicillin-G in the context of secondary prophylaxis for rheumatic heart disease. Side effects of intramuscular delivery of benzathine penicillin-G are well described and include injection site pain and inflammation, but myositis, as depicted on magnetic resonance imaging in this case, has not previously been described.

  15. MR findings of infectious myositis caused by vibrio vulnificus: case report

    Energy Technology Data Exchange (ETDEWEB)

    Lee, Joon Ho; Na, Jae Boem [Gyeongsang National University College of Medicine, Jinju (Korea, Republic of)

    2003-03-01

    Vibrio vulnificus infection is a fatal disease occurring after the consumption of seafood in patients with underlying liver disease. Inflammation of the skin, subcutanous fat and fascia disseminates from the lower extremity to the trunk and upper extremity. Infection myositis caused by vibrio vulnificus is rare, and its MR findings have not been reported. We report these in a case of infectious myositis caused by vibrio vulnificus involving both lower extremities.

  16. MR findings of infectious myositis caused by vibrio vulnificus: case report

    International Nuclear Information System (INIS)

    Lee, Joon Ho; Na, Jae Boem

    2003-01-01

    Vibrio vulnificus infection is a fatal disease occurring after the consumption of seafood in patients with underlying liver disease. Inflammation of the skin, subcutanous fat and fascia disseminates from the lower extremity to the trunk and upper extremity. Infection myositis caused by vibrio vulnificus is rare, and its MR findings have not been reported. We report these in a case of infectious myositis caused by vibrio vulnificus involving both lower extremities

  17. Atypical proliferative myositis: original MR description with pathologic correlation: Case report

    Energy Technology Data Exchange (ETDEWEB)

    Jarraya, Mohamed; Guermazi, Ali [Boston University School of Medicine, Department of Radiology, Musculoskeletal Section, Boston, MA (United States); Parva, Pedram [VA Boston Healthcare System, Boston, MA (United States); Stone, Michael [Stamford Hospital, Department of Surgery, Stamford, CT (United States); Klein, Michael J. [Hospital for Special Surgery, Department of Pathology and Laboratory Medicine, New York, NY (United States)

    2014-08-15

    Proliferative myositis (PM) along with proliferative fasciitis and nodular fasciitis are a group of pseudosarcomatous myofibroblastic proliferations. Although the histologic presentation of each is almost identical, the magnetic resonance imaging (MRI) appearance of proliferative myositis is closer to that of inflammatory myopathies. We report a case of PM in which the imaging and histologic features combine typical findings of PM with unusual imaging features, suggesting of reactive (or nodular) fasciitis. (orig.)

  18. Atypical proliferative myositis: original MR description with pathologic correlation: Case report

    International Nuclear Information System (INIS)

    Jarraya, Mohamed; Guermazi, Ali; Parva, Pedram; Stone, Michael; Klein, Michael J.

    2014-01-01

    Proliferative myositis (PM) along with proliferative fasciitis and nodular fasciitis are a group of pseudosarcomatous myofibroblastic proliferations. Although the histologic presentation of each is almost identical, the magnetic resonance imaging (MRI) appearance of proliferative myositis is closer to that of inflammatory myopathies. We report a case of PM in which the imaging and histologic features combine typical findings of PM with unusual imaging features, suggesting of reactive (or nodular) fasciitis. (orig.)

  19. Multiple drug resistance protein (MDR-1, multidrug resistance-related protein (MRP and lung resistance protein (LRP gene expression in childhood acute lymphoblastic leukemia

    Directory of Open Access Journals (Sweden)

    Elvis Terci Valera

    Full Text Available CONTEXT: Despite the advances in the cure rate for acute lymphoblastic leukemia, approximately 25% of affected children suffer relapses. Expression of genes for the multiple drug resistance protein (MDR-1, multidrug resistance-related protein (MRP, and lung resistance protein (LRP may confer the phenotype of resistance to the treatment of neoplasias. OBJECTIVE: To analyze the expression of the MDR-1, MRP and LRP genes in children with a diagnosis of acute lymphoblastic leukemia via the semiquantitative reverse transcription polymerase chain reaction (RT-PCR, and to determine the correlation between expression and event-free survival and clinical and laboratory variables. DESIGN: A retrospective clinical study. SETTING: Laboratory of Pediatric Oncology, Department of Pediatrics, Faculdade de Medicina de Ribeirão Preto, Universidade de São Paulo, Brazil. METHODS: Bone marrow aspirates from 30 children with a diagnosis of acute lymphoblastic leukemia were assessed for the expression of messenger RNA for the MDR-1, MRP and LRP genes by semi-quantitative RT-PCR. RESULTS: In the three groups studied, only the increased expression of LRP was related to worsened event-free survival (p = 0.005. The presence of the common acute lymphoblastic leukemia antigen (CALLA was correlated with increased LRP expression (p = 0.009 and increased risk of relapse or death (p = 0.05. The relative risk of relapse or death was six times higher among children with high LRP expression upon diagnosis (p = 0.05, as confirmed by multivariate analysis of the three genes studied (p = 0.035. DISCUSSION: Cell resistance to drugs is a determinant of the response to chemotherapy and its detection via RT-PCR may be of clinical importance. CONCLUSIONS: Evaluation of the expression of genes for resistance to antineoplastic drugs in childhood acute lymphoblastic leukemia upon diagnosis, and particularly the expression of the LRP gene, may be of clinical relevance, and should be the

  20. Core biopsy as a simple and effective diagnostic tool in head and neck focal myositis.

    Science.gov (United States)

    Tan, Chun Yee; Chong, Sheldon; Shaw, Chi-Kee Leslie

    2015-12-01

    Most unilateral head and neck masses are benign, although malignancy is a possibility in some cases. However, there are other rare causes of unilateral neck masses, such as focal myositis, which is a rare, benign condition belonging to the family of inflammatory pseudotumors of the skeletal muscles, with rare presentations in the head and neck region. Focal myositis presents as a rapidly enlarging neck mass that can be misdiagnosed by fine-needle aspiration biopsy and/or radiologic imaging as either an infective or a neoplastic process. To date, there are only 5 reported cases of adult focal myositis of the sternocleidomastoid muscle in the medical literature. In this article, the authors present 2 cases involving patients with focal myositis of the sternocleidomastoid muscle that were successfully diagnosed with core-needle biopsy and managed conservatively. The pros and cons of fine-needle aspiration biopsy and core-needle biopsy are discussed. Based on the authors' results, fine-needle aspiration biopsy universally fails to provide the diagnosis of focal myositis. In contrast, core-needle biopsy successfully diagnosed focal myositis in both of our patients. Both of them had complete resolution with conservative management.

  1. Myositis registries and biorepositories: powerful tools to advance clinical, epidemiologic and pathogenic research.

    Science.gov (United States)

    Rider, Lisa G; Dankó, Katalin; Miller, Frederick W

    2014-11-01

    Clinical registries and biorepositories have proven extremely useful in many studies of diseases, especially rare diseases. Given their rarity and diversity, the idiopathic inflammatory myopathies, or myositis syndromes, have benefited from individual researchers' collections of cohorts of patients. Major efforts are being made to establish large registries and biorepositories that will allow many additional studies to be performed that were not possible before. Here, we describe the registries developed by investigators and patient support groups that are currently available for collaborative research purposes. We have identified 46 myositis research registries, including many with biorepositories, which have been developed for a wide variety of purposes and have resulted in great advances in understanding the range of phenotypes, clinical presentations, risk factors, pathogenic mechanisms, outcome assessment, therapeutic responses, and prognoses. These are now available for collaborative use to undertake additional studies. Two myositis patient registries have been developed for research, and myositis patient support groups maintain demographic registries with large numbers of patients available to be contacted for potential research participation. Investigator-initiated myositis research registries and biorepositories have proven extremely useful in understanding many aspects of these rare and diverse autoimmune diseases. These registries and biorepositories, in addition to those developed by myositis patient support groups, deserve continued support to maintain the momentum in this field as they offer major opportunities to improve understanding of the pathogenesis and treatment of these diseases in cost-effective ways.

  2. The Co-Existence of Myasthenia Gravis in Patients with Myositis: A Case Series

    Science.gov (United States)

    Paik, Julie J.; Corse, Andrea M.; Mammen, Andrew L.

    2014-01-01

    Objective Myositis and myasthenia gravis (MG) are both autoimmune disorders presenting with muscle weakness. Rarely, they occur simultaneously in the same patient. Since the management of myasthenia gravis differs from that of myositis, it is important to recognize when patients have both diseases. We reviewed the cases of 6 patients with both myositis and MG to identify clinical features that suggest the possibility of co-existing MG in myositis patients. Methods We identified 6 patients with dermatomyositis or polymyositis and MG. We reviewed their medical records to assess their clinical presentations, laboratory findings, and electrophysiological features. Results All 6 patients had definite dermatomyositis or polymyositis by the criteria of Bohan and Peter as well as electrophysiologic and/or serologic confirmation of MG. Among overlap patients, 5/6 (83%) had bulbar weakness, 2/6 (33%) had ptosis, and 1/6 (17%) had diplopia. Fatigable weakness was noted by 5/6 (83%) patients. Treatment with pyridostigmine improved symptoms in 5/6 (83%). High dose steroids were associated with worsening weakness in 2/6 (33%) patients. Conclusions Prominent bulbar symptoms, ptosis, diplopia, and fatigable weakness should suggest the possibility of MG in patients with myositis. A suspicion of MG may be confirmed through appropriate electrophysiologic and laboratory testing. In those with myositis-MG overlap, high dose steroids may exacerbate symptoms and pryidostigmine may play an important therapeutic role. PMID:24412588

  3. Autoantibody levels in myositis patients correlate with clinical response during B cell depletion with rituximab.

    Science.gov (United States)

    Aggarwal, Rohit; Oddis, Chester V; Goudeau, Danielle; Koontz, Diane; Qi, Zengbiao; Reed, Ann M; Ascherman, Dana P; Levesque, Marc C

    2016-06-01

    To determine the longitudinal trends in serum levels of four myositis-associated autoantibodies: anti-Jo-1, -transcription intermediary factor 1 γ (TIF1-γ), -signal recognition particle (SRP) and -Mi-2, after B cell depletion with rituximab, and to determine the longitudinal association of these autoantibody levels with disease activity as measured by myositis core-set measures (CSMs). Treatment-resistant adult and pediatric myositis subjects (n = 200) received rituximab in the 44-week Rituximab in Myositis Trial. CSMs [muscle enzymes, manual muscle testing (MMT), physician and patient global disease activity, HAQ, and extramuscular disease activity] were evaluated monthly and anti-Jo-1 (n = 28), -TIF1-γ (n = 23), -SRP (n = 25) and -Mi-2 (n = 26) serum levels were measured using validated quantitative ELISAs. Temporal trends and the longitudinal relationship between myositis-associated autoantibodies levels and CSM were estimated using linear mixed models. Following rituximab, anti-Jo-1 levels decreased over time (P myositis subjects decreased after B cell depletion and were correlated with changes in disease activity, whereas anti-SRP levels were only associated with longitudinal muscle enzyme levels. The strong association of anti-Jo-1 levels with clinical outcomes suggests that anti-Jo-1 autoantibodies may be a good biomarker for disease activity. © The Author 2016. Published by Oxford University Press on behalf of the British Society for Rheumatology. All rights reserved. For Permissions, please email: journals.permissions@oup.com.

  4. [Clinical and histopathological features of myositis associated with anti-mitochondrial antibodies].

    Science.gov (United States)

    Shimizu, Jun

    2013-01-01

    Anti-mitochondrial antibodies (AMA) are known to be characteristic markers of primary biliary cirrhosis (PBC). The association of PBC with myositis has been reported mainly as case reports, and comprehensive studies of the clinical and histopathological features of patients with myositis and AMAs or PBC have not been conducted thus far. We retrospectively reviewed 212 patients with inflammatory myopathies in our laboratory and found 24 patients with AMA-positive myositis (11%) (seven patients with PBC and 17 patients without PBC). The analysis of clinical and histopathological features revealed that myositis associated with AMAs frequently include patients with a clinically chronic disease course, muscle atrophy, cardiopulmonary involvement and granulomatous inflammation, regardless of the presence or absence of PBC. We also reviewed and analyzed the clinical features of previously reported patients. The analysis of 75 patients, which have been described in previous case reports including the ones of meeting abstracts, also showed the similar results about clinical features of myositis associated with AMAs and supported our findings. Our study suggests that myositis associated with AMAs form a characteristic subgroup.

  5. Eosinophilic granulomatosis with polyangiitis (Churg-Strauss syndrome) presenting as diffuse myositis.

    Science.gov (United States)

    Parent, Marc-Etienne; Larue, Sandrine; Ellezam, Benjamin

    2014-11-21

    Eosinophilic granulomatosis with polyangiitis is a complex multisystemic syndrome with heterogeneous presentation. Most often, there is a clinical history of asthma or other atopic conditions, and current presentation generally includes signs of cutaneous or pulmonary involvement. Very few reports described myalgia or weakness as the chief complaint. Of these, only a few included muscle biopsy evaluation and none showed convincing evidence of primary myositis. We believe this report is the first to demonstrate true myositis in the setting of early eosinophilic granulomatosis with polyangiitis. This report describes a 74 year old Caucasian man, with no known allergies, presenting severe myalgia, muscle weakness, jaw claudication, and fever. Blood work showed marked eosinophilia and high creatine kinase levels. Biceps brachialis muscle biopsy revealed eosinophilic necrotizing vasculitis and true myositis with myophagocytosis of non-necrotic fibers and strong sarcolemmal MHC-1 overexpression by immunohistochemistry. This patient was successfully treated with prednisone and azathioprine. Our finding of true myositis in a case of eosinophilic granulomatosis with polyangiitis suggests that primary auto-immunity against muscle fibers, distinct from the secondary effects of vasculitis, can occur in this entity and may represent an overlap syndrome. Early recognition of eosinophilic granulomatosis with polyangiitis in patients presenting with myositis may provide an opportunity to treat the vasculitis before onset of severe multisystemic disease. We recommend the use of muscle biopsy with immunohistochemistry for MHC-1 to confirm the diagnosis of myositis in the setting of eosinophilic granulomatosis with polyangiitis.

  6. Myositis Ossificans of the Psoas Muscle After Compression Fracture of Lumbar Spine: CT and MR Imaging Findings

    International Nuclear Information System (INIS)

    Choi, Mi Nyong; Lee, Gyung Kyu; Suh, Kyung Jin

    2010-01-01

    Myositis ossificans is a benign, self-limiting and non-neoplastic development of heterotopic bone in skeletal muscle following trauma. Although myositis ossificans can occur anywhere in the body, psoas muscle involvement is very rare. To the best of our knowledge, CT and MR imaging findings of myositis ossificans in the psoas muscle secondary to lumbar spine fracture have not been reported in the radiological literature. In this article, we describe the CT and MR imaging findings of myositis ossificans of the psoas muscle after lumbar spine fracture in a 64-year-old man, and conduct a review of the relevant literature

  7. Myositis Ossificans of the Psoas Muscle After Compression Fracture of Lumbar Spine: CT and MR Imaging Findings

    Energy Technology Data Exchange (ETDEWEB)

    Choi, Mi Nyong; Lee, Gyung Kyu [Hallym University College of Medicine, Hangang Sacred Heart Hospital, Seoul (Korea, Republic of); Suh, Kyung Jin [Dongguk University College of Medicine, Gyungju Hospital, Gyeongju (Korea, Republic of)

    2010-02-15

    Myositis ossificans is a benign, self-limiting and non-neoplastic development of heterotopic bone in skeletal muscle following trauma. Although myositis ossificans can occur anywhere in the body, psoas muscle involvement is very rare. To the best of our knowledge, CT and MR imaging findings of myositis ossificans in the psoas muscle secondary to lumbar spine fracture have not been reported in the radiological literature. In this article, we describe the CT and MR imaging findings of myositis ossificans of the psoas muscle after lumbar spine fracture in a 64-year-old man, and conduct a review of the relevant literature

  8. Cured meat, vegetables, and bean-curd foods in relation to childhood acute leukemia risk: a population based case-control study.

    Science.gov (United States)

    Liu, Chen-Yu; Hsu, Yi-Hsiang; Wu, Ming-Tsang; Pan, Pi-Chen; Ho, Chi-Kung; Su, Li; Xu, Xin; Li, Yi; Christiani, David C

    2009-01-13

    Consumption of cured/smoked meat and fish leads to the formation of carcinogenic N-nitroso compounds in the acidic stomach. This study investigated whether consumed cured/smoked meat and fish, the major dietary resource for exposure to nitrites and nitrosamines, is associated with childhood acute leukemia. A population-based case-control study of Han Chinese between 2 and 20 years old was conducted in southern Taiwan. 145 acute leukemia cases and 370 age- and sex-matched controls were recruited between 1997 and 2005. Dietary data were obtained from a questionnaire. Multiple logistic regression models were used in data analyses. Consumption of cured/smoked meat and fish more than once a week was associated with an increased risk of acute leukemia (OR = 1.74; 95% CI: 1.15-2.64). Conversely, higher intake of vegetables (OR = 0.55; 95% CI: 0.37-0.83) and bean-curd (OR = 0.55; 95% CI: 0.34-0.89) was associated with a reduced risk. No statistically significant association was observed between leukemia risk and the consumption of pickled vegetables, fruits, and tea. Dietary exposure to cured/smoked meat and fish may be associated with leukemia risk through their contents of nitrites and nitrosamines among children and adolescents, and intake of vegetables and soy-bean curd may be protective.

  9. HA-1 T TCR T Cell Immunotherapy for the Treating of Patients With Relapsed or Refractory Acute Leukemia After Donor Stem Cell Transplant

    Science.gov (United States)

    2018-04-30

    HLA-A*0201 HA-1 Positive Cells Present; Minimal Residual Disease; Recurrent Acute Biphenotypic Leukemia; Recurrent Acute Undifferentiated Leukemia; Recurrent Adult Acute Lymphoblastic Leukemia; Recurrent Adult Acute Myeloid Leukemia; Recurrent Childhood Acute Lymphoblastic Leukemia; Recurrent Childhood Acute Myeloid Leukemia; Refractory Acute Myeloid Leukemia; Refractory Adult Acute Lymphoblastic Leukemia; Refractory Childhood Acute Lymphoblastic Leukemia

  10. Vitamin D and bone minerals status in the long-term survivors of childhood acute lymphoblastic leukemia

    Directory of Open Access Journals (Sweden)

    Nahid Reisi

    2015-01-01

    Conclusions: ALL treatment is associated with the increase in prevalence of vitamin D insufficiency in the childhood ALL survivors and since the low vitamin D level potentially increases the risk of low bone density, subsequent malignancies, and cardiovascular disease in the survivors, close follow-up of such patients are highly recommended to prevent the stated complications.

  11. Group G streptococcal myositis in a patient with myeloproliferative neoplasm

    Directory of Open Access Journals (Sweden)

    Monica Midha, MD MBS

    2016-01-01

    Full Text Available While many cases of streptococcal infection are due to Lancefield groups A and B, there has been a rise in reported cases of infections due to group G streptococcus. We present a case of an individual with a hematologic malignancy who developed myositis secondary to group G streptococcus, with no clearly identifiable source of infection. The patient was managed with antibiotic therapy rather than surgical intervention due to high surgical risk related to severe thrombocytopenia. Targeted antibiotics initiated early in the course of disease may prevent the need for surgical intervention. Early diagnosis and treatment are critical to avoid the high morbidity and mortality of life-threatening infections caused by group G streptococcus.

  12. Sporadic inclusion body myositis: the genetic contributions to the pathogenesis

    Science.gov (United States)

    2014-01-01

    Sporadic inclusion body myositis (sIBM) is the commonest idiopathic inflammatory muscle disease in people over 50 years old. It is characterized by slowly progressive muscle weakness and atrophy, with typical pathological changes of inflammation, degeneration and mitochondrial abnormality in affected muscle fibres. The cause(s) of sIBM are still unknown, but are considered complex, with the contribution of multiple factors such as environmental triggers, ageing and genetic susceptibility. This review summarizes the current understanding of the genetic contributions to sIBM and provides some insights for future research in this mysterious disease with the advantage of the rapid development of advanced genetic technology. An international sIBM genetic study is ongoing and whole-exome sequencing will be applied in a large cohort of sIBM patients with the aim of unravelling important genetic risk factors for sIBM. PMID:24948216

  13. Functional impairment in patients with sporadic Inclusion Body Myositis.

    Science.gov (United States)

    Dunlap, Heather V; Macneil, Lauren G; Tarnopolsky, Mark A

    2014-03-01

    We conducted a retrospective chart review of 53 patients diagnosed with sporadic Inclusion Body Myositis (sIBM) who have been followed at the McMaster Neuromuscular Clinic since 1996. We reviewed patient medical histories in order to compare our findings with similar cohorts, and analyzed quantitative strength data to determine functionality in guiding decisions related to gait assistive devices. Patient information was acquired through retrospective clinic chart review. Our study found knee extension strength decreased significantly as patients transitioned to using more supportive gait assistive devices (P cane)(P Falls and fear of falling poses a significant threat to patient physical well-being. The prevalence of dysphagia increased as patients required more supportive gait devices, and finally a significant negative correlation was found between time after onset and creatine kinase (CK) levels (P falling would be beneficial in preventing future falls and improving long-term patient outcomes.

  14. Simultaneous Combined Myositis, Inflammatory Polyneuropathy, and Overlap Myasthenic Syndrome

    Directory of Open Access Journals (Sweden)

    Stéphane Mathis

    2016-01-01

    Full Text Available Immune-mediated neuromuscular disorders include pathologies of the peripheral nervous system, neuromuscular junction, and muscles. If overlap syndromes (or the association of almost two autoimmune disorders are recognized, the simultaneous occurrence of several autoimmune neuromuscular disorders is rare. We describe two patients presenting the simultaneous occurrence of inflammatory neuropathy, myositis, and myasthenia gravis (with positive acetylcholine receptor antibodies. For each patient, we carried out a pathological analysis (nerve and muscle and an electrophysiological study (and follow-up. To our knowledge, this is the first description of such a triple immune-mediated neuromuscular syndrome. We compared our observations with a few other cases of simultaneous diagnosis of two inflammatory neuromuscular disorders.

  15. Consequenses of childhood adversity on health concerns in adulthood

    African Journals Online (AJOL)

    Consequenses of childhood adversity on health concerns in adulthood. ... childhood adversity have similar levels of depression, acute and chronic health. ... to explain the pathways linking childhood adversity to physical health in adulthood.

  16. The association of reduced folate carrier 80G>A polymorphism to outcome in childhood acute lymphoblastic leukemia interacts with chromosome 21 copy number

    DEFF Research Database (Denmark)

    Gregers, Jannie; Christensen, Ib Jarle; Dalhoff, Kim

    2010-01-01

    with chromosome 21 copy number in the leukemic clone. A total of 500 children with acute lymphoblastic leukemia treated according to the common Nordic treatment protocols were included, and we found that the RFC AA variant was associated with a 50% better chance of staying in remission compared with GG or GA......The reduced folate carrier (RFC) is involved in the transport of methotrexate (MTX) across the cell membrane. The RFC gene (SLC19A1) is located on chromosome 21, and we hypothesized that the RFC80 G>A polymorphism would affect outcome and toxicity in childhood leukemia and that this could interact...... variants (P = .046). Increased copy numbers of chromosome 21 appear to improve outcome also in children with GA or GG variant. In a subset of 182 children receiving 608 high-dose MTX courses, we observed higher degree of bone marrow toxicity in patients with the RFC AA variant compared with GA/GG variants...

  17. Genomic profiling of thousands of candidate polymorphisms predicts risk of relapse in 778 Danish and German childhood acute lymphoblastic leukemia patients

    DEFF Research Database (Denmark)

    Wesolowska, Agata; Borst, L.; Dalgaard, Marlene Danner

    2015-01-01

    Childhood acute lymphoblastic leukemia survival approaches 90%. New strategies are needed to identify the 10–15% who evade cure. We applied targeted, sequencing-based genotyping of 25 000 to 34 000 preselected potentially clinically relevant singlenucleotide polymorphisms (SNPs) to identify host...... associated with risk of relapse across protocols. SNP and biologic pathway level analyses associated relapse risk with leukemia aggressiveness, glucocorticosteroid pharmacology/response and drug transport/metabolism pathways. Classification and regression tree analysis identified three distinct risk groups...... defined by end of induction residual leukemia, white blood cell count and variants in myeloperoxidase (MPO), estrogen receptor 1 (ESR1), lamin B1 (LMNB1) and matrix metalloproteinase-7 (MMP7) genes, ATP-binding cassette transporters and glucocorticosteroid transcription regulation pathways. Relapse rates...

  18. Family-based exome-wide association study of childhood acute lymphoblastic leukemia among Hispanics confirms role of ARID5B in susceptibility.

    Directory of Open Access Journals (Sweden)

    Natalie P Archer

    Full Text Available We conducted an exome-wide association study of childhood acute lymphoblastic leukemia (ALL among Hispanics to confirm and identify novel variants associated with disease risk in this population. We used a case-parent trio study design; unlike more commonly used case-control studies, this study design is ideal for avoiding issues with population stratification bias among this at-risk ethnic group. Using 710 individuals from 323 Guatemalan and US Hispanic families, two inherited SNPs in ARID5B reached genome-wide level significance: rs10821936, RR = 2.31, 95% CI = 1.70-3.14, p = 1.7×10-8 and rs7089424, RR = 2.22, 95% CI = 1.64-3.01, p = 5.2×10-8. Similar results were observed when restricting our analyses to those with the B-ALL subtype: ARID5B rs10821936 RR = 2.22, 95% CI = 1.63-3.02, p = 9.63×10-8 and ARID5B rs7089424 RR = 2.13, 95% CI = 1.57-2.88, p = 2.81×10-7. Notably, effect sizes observed for rs7089424 and rs10821936 in our study were >20% higher than those reported among non-Hispanic white populations in previous genetic association studies. Our results confirmed the role of ARID5B in childhood ALL susceptibility among Hispanics; however, our assessment did not reveal any strong novel inherited genetic risks for acute lymphoblastic leukemia among this ethnic group.

  19. Family-based exome-wide association study of childhood acute lymphoblastic leukemia among Hispanics confirms role of ARID5B in susceptibility

    Science.gov (United States)

    Stoltze, Ulrik; Scheurer, Michael E.; Wilkinson, Anna V.; Lin, Ting-Nien; Qian, Maoxiang; Goodings, Charnise; Swartz, Michael D.; Ranjit, Nalini; Rabin, Karen R.; Peckham-Gregory, Erin C.; Plon, Sharon E.; de Alarcon, Pedro A.; Zabriskie, Ryan C.; Antillon-Klussmann, Federico; Najera, Cesar R.; Yang, Jun J.

    2017-01-01

    We conducted an exome-wide association study of childhood acute lymphoblastic leukemia (ALL) among Hispanics to confirm and identify novel variants associated with disease risk in this population. We used a case-parent trio study design; unlike more commonly used case-control studies, this study design is ideal for avoiding issues with population stratification bias among this at-risk ethnic group. Using 710 individuals from 323 Guatemalan and US Hispanic families, two inherited SNPs in ARID5B reached genome-wide level significance: rs10821936, RR = 2.31, 95% CI = 1.70–3.14, p = 1.7×10−8 and rs7089424, RR = 2.22, 95% CI = 1.64–3.01, p = 5.2×10−8. Similar results were observed when restricting our analyses to those with the B-ALL subtype: ARID5B rs10821936 RR = 2.22, 95% CI = 1.63–3.02, p = 9.63×10−8 and ARID5B rs7089424 RR = 2.13, 95% CI = 1.57–2.88, p = 2.81×10−7. Notably, effect sizes observed for rs7089424 and rs10821936 in our study were >20% higher than those reported among non-Hispanic white populations in previous genetic association studies. Our results confirmed the role of ARID5B in childhood ALL susceptibility among Hispanics; however, our assessment did not reveal any strong novel inherited genetic risks for acute lymphoblastic leukemia among this ethnic group. PMID:28817678

  20. Efficacy and Toxicity of Intrathecal Liposomal Cytarabine in First-line Therapy of Childhood Acute Lymphoblastic Leukemia

    DEFF Research Database (Denmark)

    Levinsen, Mette; Harila-Saari, Arja; Grell, Kathrine

    2016-01-01

    We investigated efficacy and toxicity of replacing conventional triple (cytarabine, methotrexate, and hydrocortisone) intrathecal therapy (TIT) with liposomal cytarabine during maintenance therapy among 40 acute lymphoblastic leukemia patients. Twenty-eight of 29 patients in the TIT arm received...

  1. Tumour genesis syndrome: severe hypophosphatemia and hypokalemia may be ominous presenting findings in childhood acute myeloid leukaemia.

    Science.gov (United States)

    Chan, Winnie Ky; Chang, Kai On; Lau, Wing Hung

    2017-08-01

    We report a 16-year-old girl who was diagnosed with acute leukaemia and a marked leucocytosis >200 × 10 9 /L. She presented with marked hypophosphatemia, hypokalemia, acute renal failure and acute respiratory failure. These electrolytes disturbances may indicate rapid tumour genesis. These ominous findings required urgent treatment to halt the crises of rapid leukemic cell proliferation. Mark hypophosphatemia and hypokalemia may be presenting electrolyte abnormalities in a patient with acute leukaemia, and these may be indicators of aggressive tumour genesis. What is known: • Mild electrolyte disturbances are common in oncology patients • Tumour lysis syndrome is well recognized by paediatriaticians What is new: • Life-threatening hypophosphatemia is an uncommon presentation • These electrolytes disorders may indicate an aggressive tumour genesis process even at presentation and require urgent treatment.

  2. Identification of a novel myositis-associated antibody directed against cortactin.

    Science.gov (United States)

    Labrador-Horrillo, Moisés; Martínez, Maria Angeles; Selva-O'Callaghan, Albert; Trallero-Araguás, Ernesto; Grau-Junyent, Josep M; Vilardell-Tarrés, Miquel; Juarez, Candido

    2014-10-01

    The aim of this study is to describe a novel myositis-associated autoantibody (anti-cortactin antibody) and assess related clinical and immunological manifestations and its clinical significance. Adult patients with myositis (dermatomyositis, polymyositis, immune-mediated necrotizing myopathy, and inclusion body myositis), as well as patients with other autoimmune diseases and non-inflammatory myopathies were analyzed for the presence of anti-cortactin antibody using in-house developed ELISA and immunoblotting techniques with a commercial source of purified cortactin. The cut-off for positive status was determined in a group of healthy volunteers. Antibody against cortactin was positive in 7/34 (20%) polymyositis patients, 9/117 (7.6%) dermatomyositis, 2/7 (26%) immune-mediated necrotizing myopathy, and none of the 4 patients with inclusion body myositis. The antibody also tested positive in 3/101 patients with other autoimmune diseases (2 systemic sclerosis and 1 systemic lupus erythematosus), and in 1/29 patients with non-inflammatory myopathy. No relevant association with specific clinical features was found in patients with these antibodies. Anti-cortactin antibody was more frequently positive in patients with polymyositis and immune-mediated necrotizing myopathy than in the remaining myositis patients, and was the only myositis autoantibody found in sera of 3 patients from these groups. Our data indicate that cortactin is a novel target antigen in patients with autoimmune diseases, especially patients with polymyositis or immune-mediated necrotizing myopathy. Anti-cortactin can be considered a new myositis-associated antibody. Copyright © 2014 Elsevier B.V. All rights reserved.

  3. HLA-DPβ1 Asp84-Lys69 antigen-binding signature predicts event-free survival in childhood B-cell precursor acute lymphoblastic leukaemia: results from the MRC UKALL XI childhood ALL trial.

    Science.gov (United States)

    Taylor, G M; Wade, R; Hussain, A; Thompson, P; Hann, I; Gibson, B; Eden, T; Richards, S

    2012-07-01

    We previously reported that children in the UKALL XI ALL trial with HLA-DP 1 and -DP 3 supertypes had significantly worse event-free survival (EFS) than children with other DP supertypes. As DP 1 and DP 3 share two of four key antigen-binding amino-acid polymorphisms (aspartic acid84-lysine69), we asked whether Asp84-Lys69 or Asp84 alone were independent prognostic indicators in childhood acute lymphoblastic leukemia (ALL). We analysed EFS in 798 UKALL XI patients, stratified by Asp84-Lys69 vs non-Asp84-Lys69, for a median follow-up of 12.5 years. Asp84-Lys69 was associated with a significantly worse EFS than non-Asp84-Lys69 (5-year EFS: Asp84-Lys69: 58.8% (95% CI (confidence of interval): 52.7-64.9%); non-Asp84-Lys69: 67.3% (63.4-71.2%); 2P=0.007). Post-relapse EFS was 10% less in Asp84-Lys69 than non-Asp84-Lys69 patients. EFS was significantly worse (P=0.03) and post-relapse EFS marginally worse (P=0.06) in patients with Asp84 compared with Gly84. These results suggest that Asp84-Lys69 predicted adverse EFS in the context of UKALL XI because of Asp84, and may have influenced post-relapse EFS. We speculate that this may be due to the recruitment of Asp84-Lys69-restricted regulatory T cells in the context of this regimen, leading to the re-emergence of residual disease. However, functional and molecular studies of the prognostic value of this and other HLA molecular signatures in other childhood ALL trials are needed.

  4. An Autoimmune Myositis-Overlap Syndrome Associated With Autoantibodies to Nuclear Pore Complexes

    Science.gov (United States)

    Senécal, Jean-Luc; Isabelle, Catherine; Fritzler, Marvin J.; Targoff, Ira N.; Goldstein, Rose; Gagné, Michel; Raynauld, Jean-Pierre; Joyal, France; Troyanov, Yves; Dabauvalle, Marie-Christine

    2014-01-01

    Abstract Autoimmune myositis encompasses various myositis-overlap syndromes, each being identified by the presence of serum marker autoantibodies. We describe a novel myositis-overlap syndrome in 4 patients characterized by the presence of a unique immunologic marker, autoantibodies to nuclear pore complexes. The clinical phenotype was characterized by prominent myositis in association with erosive, anti-CCP, and rheumatoid factor-positive arthritis, trigeminal neuralgia, mild interstitial lung disease, Raynaud phenomenon, and weight loss. The myositis was typically chronic, relapsing, and refractory to corticosteroids alone, but remitted with the addition of a second immunomodulating drug. There was no clinical or laboratory evidence for liver disease. The prognosis was good with 100% long-term survival (mean follow-up 19.5 yr). By indirect immunofluorescence on HEp-2 cells, sera from all 4 patients displayed a high titer of antinuclear autoantibodies (ANA) with a distinct punctate peripheral (rim) fluorescent pattern of the nuclear envelope characteristic of nuclear pore complexes. Reactivity with nuclear pore complexes was confirmed by immunoelectron microscopy. In a cohort of 100 French Canadian patients with autoimmune myositis, the nuclear pore complex fluorescent ANA pattern was restricted to these 4 patients (4%). It was not observed in sera from 393 adult patients with systemic sclerosis (n = 112), mixed connective tissue disease (n = 35), systemic lupus (n = 94), rheumatoid arthritis (n = 45), or other rheumatic diseases (n = 107), nor was it observed in 62 normal adults. Autoantibodies to nuclear pore complexes were predominantly of IgG isotype. No other IgG autoantibody markers for defined connective tissue diseases or overlap syndromes were present, indicating a selective and highly focused immune response. In 3 patients, anti-nuclear pore complex autoantibody titers varied in parallel with myositis activity, suggesting a pathogenic

  5. Rare myositis-specific autoantibody associations among Hungarian patients with idiopathic inflammatory myopathy.

    Science.gov (United States)

    Bodoki, L; Nagy-Vincze, M; Griger, Z; Betteridge, Z; Szöllősi, L; Jobanputra, R; Dankó, K

    2015-01-01

    Idiopathic inflammatory myopathies are systemic, chronic autoimmune diseases characterized by symmetrical, proximal muscle weakness. Homogeneous groups present with similar symptoms. The response to therapy and prognosis could be facilitated by myositis-specific autoantibodies, and in this way, give rise to immunoserological classification. The myositis-specific autoantibodies are directed against specific proteins found in the cytoplasm or in the nucleus of the cells. To date, literature suggests the rarity of the co-existence of two myositis-specific autoantibodies. In this study the authors highlight rare associations of myositis-specific autoantibodies. Three hundred and thirty-seven Hungarian patients with polymyositis or dermatomyositis were studied. Their clinical findings were noted retrospectively. Specific blood tests identified six patients with the rare co-existence of myositis-specific autoantibodies, anti-Jo-1 and anti-SRP, anti-Jo-1 and anti-Mi-2, anti-Mi-2 and anti-PL-12, anti-Mi-2 and anti-SRP, and anti-SRP and anti-PL-7, respectively. This case review aims to identify the clinical importance of these rare associations and their place within the immunoserological classification.

  6. Eosinophilic myositis as first manifestation in a patient with type 2 myotonic dystrophy CCTG expansion mutation and rheumatoid arthritis.

    Science.gov (United States)

    Meyer, Alain; Lannes, Béatrice; Carapito, Raphaël; Bahram, Seiamak; Echaniz-Laguna, Andoni; Geny, Bernard; Sibilia, Jean; Gottenberg, Jacques Eric

    2015-02-01

    Eosinophilic myositis is characterized by eosinophilic infiltration of skeletal muscles. In the absence of an identifiable causative factor or source (including parasitic infection, intake of drugs or L-tryptophan, certain systemic disorders as well as malignant diseases), the diagnosis of idiopathic eosinophilic myositis is usually retained. However, some muscular dystrophies have been recently identified in this subset of eosinophilic myositis. Here, we report a patient with an 8 kb CCTG expansion in intron 1 of the CNBP gene, a mutation characteristic of myotonic dystrophy type 2 (DM2), whose first manifestation was "idiopathic" eosinophilic myositis. This report suggests that in "idiopathic" eosinophilic myositis, clinicians should consider muscular dystrophies, including DM2. Copyright © 2014 Elsevier B.V. All rights reserved.

  7. White versus gray matter function as seen on neuropsychological testing following bone marrow transplant for acute leukemia in childhood

    Directory of Open Access Journals (Sweden)

    Fiona S Anderson

    2008-03-01

    Full Text Available Fiona S Anderson1, Alicia S Kunin-Batson1, Joanna L Perkins2, K Scott Baker31Divisions of Pediatric Clinical Neuroscience; 2Department of Pediatric Hematology/Oncology, Children’s Hospitals and Clinics, Minneapolis, MN, USA and 3Hematology/Oncology/BMT, Department of Pediatrics, University of Minnesota, Minneapolis, MN, USAAbstract: Current theory suggests that neurocognitive late effects of treatments for childhood cancer such as difficulties with attention, processing speed and visual-motor ability are the result of white matter damage. Neuroimaging studies have produced a variety of white matter findings. However, although white matter is thought to be differentially affected, previous studies have not demonstrated a discrepancy between white and gray matter function. The present study included 36 children treated for childhood leukemia with hematopoietic stem cell transplant (HCT. Their performance on neurocognitive measures traditionally thought to measure white matter was compared to performance on measures thought to measure gray matter function. Composite white and gray matter standard scores were created based on neuropsychological measures that individuals with known white or gray matter damage perform poorly. As predicted, composite white matter scores (mean = 98.1 were significantly lower (t = 2.26, p = 0.03 than composite gray matter scores (mean = 102.5. Additionally, as gray matter performance increased, the difference between gray and white matter scores increased (R = 0.353, p = 0.035. Overall, the results of this study support the current theory that white matter damage is responsible for the more subtle neurocognitive late effects resulting from treatment for childhood leukemia.Keywords: late effects of cancer treatment, leukemia, neuropsychology, white matter, brain function

  8. Cost-effective multiplexing before capture allows screening of 25 000 clinically relevant SNPs in childhood acute lymphoblastic leukemia

    DEFF Research Database (Denmark)

    Wesolowska, Agata; Dalgaard, M. D.; Borst, L.

    2011-01-01

    designed a cost-effective, high-throughput capture assay of â¼25â000 clinically relevant SNPs, and demonstrated that multiple samples can be tagged and pooled before genome capture in targeted enrichment with a sufficient sequencing depth for genotyping. This multiplexed, targeted sequencing method allows...... exploration of the impact of pharmacogenetics on efficacy and toxicity in childhood ALL treatment, which will be of importance for personalized chemotherapy.Leukemia advance online publication, 18 March 2011; doi:10.1038/leu.2011.32....

  9. Beneficial role of rapamycin in experimental autoimmune myositis.

    Directory of Open Access Journals (Sweden)

    Nicolas Prevel

    Full Text Available We developed an experimental autoimmune myositis (EAM mouse model of polymyositis where we outlined the role of regulatory T (Treg cells. Rapamycin, this immunosuppressant drug used to prevent rejection in organ transplantation, is known to spare Treg. Our aim was to test the efficacy of rapamycin in vivo in this EAM model and to investigate the effects of the drug on different immune cell sub-populations.EAM is induced by 3 injections of myosin emulsified in CFA. Mice received rapamycin during 25 days starting one day before myosin immunization (preventive treatment, or during 10 days following the last myosin immunization (curative treatment.Under preventive or curative treatment, an increase of muscle strength was observed with a parallel decrease of muscle inflammation, both being well correlated (R(2 = -0.645, p<0.0001. Rapamycin induced a general decrease in muscle of CD4 and CD8 T cells in lymphoid tissues, but spared B cells. Among T cells, the frequency of Treg was increased in rapamycin treated mice in draining lymph nodes (16.9 ± 2.2% vs. 9.3 ± 1.4%, p<0.001, which were mostly activated regulatory T cells (CD62L(lowCD44(high: 58.1 ± 5.78% vs. 33.1 ± 7%, treated vs. untreated, p<0.001. In rapamycin treated mice, inhibition of proliferation (Ki-67(+ is more important in effector T cells compared to Tregs cells (p<0.05. Furthermore, during preventive treatment, rapamycin increased the levels of KLF2 transcript in CD44(low CD62L(high naive T cell and in CD62L(low CD44(high activated T cell.Rapamycin showed efficacy both as curative and preventive treatment in our murine model of experimental myositis, in which it induced an increase of muscle strength with a parallel decrease in muscle inflammation. Rapamycin administration was also associated with a decrease in the frequency of effector T cells, an increase in Tregs, and, when administered as preventive treatment, an upregulation of KFL2 in naive and activated T cells.

  10. Hypothalamic-pituitary-adrenal (HPA) axis suppression after treatment with glucocorticoid therapy for childhood acute lymphoblastic leukaemia

    NARCIS (Netherlands)

    Gordijn, Maartje S.; Gemke, Reinoud J. B. J.; van Dalen, Elvira C.; Rotteveel, Joost; Kaspers, Gertjan J. L.

    2012-01-01

    Background Glucocorticoids play a major role in the treatment of acute lymphoblastic leukaemia (ALL). However, supraphysiological doses may cause suppression of the hypothalamic-pituitary-adrenal (HPA) axis. HPA axis suppression resulting in reduced cortisol response may cause an impaired stress

  11. Hypothalamic-pituitary-adrenal (HPA) axis suppression after treatment with glucocorticoid therapy for childhood acute lymphoblastic leukaemia

    NARCIS (Netherlands)

    Gordijn, Maartje S.; Rensen, Niki; Gemke, Reinoud J. B. J.; van Dalen, Elvira C.; Rotteveel, Joost; Kaspers, Gertjan J. L.

    2015-01-01

    Glucocorticoids play a major role in the treatment of acute lymphoblastic leukaemia (ALL). However, supraphysiological doses can suppress the hypothalamic-pituitary-adrenal (HPA) axis. HPA axis suppression resulting in reduced cortisol response may cause an impaired stress response and an inadequate

  12. Hypothalamic-pituitary-adrenal (HPA) axis suppression after treatment with glucocorticoid therapy for childhood acute lymphoblastic leukaemia

    NARCIS (Netherlands)

    Rensen, Niki; Gemke, Reinoud J. B. J.; van Dalen, Elvira C.; Rotteveel, Joost; Kaspers, Gertjan J. L.

    2017-01-01

    Glucocorticoids play a major role in the treatment of acute lymphoblastic leukaemia (ALL). However, supraphysiological doses can suppress the hypothalamic-pituitary-adrenal (HPA) axis. HPA axis suppression resulting in reduced cortisol response may cause an impaired stress response and an inadequate

  13. Long-term results of NOPHO ALL-92 and ALL-2000 studies of childhood acute lymphoblastic leukemia

    DEFF Research Database (Denmark)

    Schmiegelow, K; Forestier, E; Hellebostad, M

    2010-01-01

    Analysis of 2668 children with acute lymphoblastic leukemia (ALL) treated in two successive Nordic clinical trials (Nordic Society of Paediatric Haematology and Oncology (NOPHO) ALL-92 and ALL-2000) showed that 75% of all patients are cured by first-line therapy, and 83% are long-term survivors...

  14. Assessment of Mercaptopurine (6MP) Metabolites and 6MP Metabolic Key-Enzymes in Childhood Acute Lymphoblastic Leukemia

    NARCIS (Netherlands)

    Wojtuszkiewicz, A.; Barcelos, A.; Dubbelman, B.; Abreu, R.A. de; Brouwer, C.; Bökkerink, J.P.M.; Haas, V. de; Groot-Kruseman, H. de; Jansen, G.; Kaspers, G.L.; Cloos, J.; Peters, G.J.

    2014-01-01

    Pediatric acute lymphoblastic leukemia (ALL) is treated with combination chemotherapy including mercaptopurine (6MP) as an important component. Upon its uptake, 6MP undergoes a complex metabolism involving many enzymes and active products. The prognostic value of all the factors engaged in this

  15. High-risk childhood acute lymphoblastic leukemia in first remission treated with novel intensive chemotherapy and allogeneic transplantation

    NARCIS (Netherlands)

    Marshall, G. M.; Dalla Pozza, L.; Sutton, R.; Ng, A.; de Groot-Kruseman, Ha; van der Velden, V. H.; Venn, N. C.; van den Berg, H.; de Bont, E. S. J. M.; Egeler, R. Maarten; Hoogerbrugge, P. M.; Kaspers, G. J. L.; Bierings, M. B.; van der Schoot, E.; van Dongen, J.; Law, T.; Cross, S.; Mueller, H.; de Haas, V.; Haber, M.; Revesz, T.; Alvaro, F.; Suppiah, R.; Norris, M. D.; Pieters, R.

    Children with acute lymphoblastic leukemia (ALL) and high minimal residual disease (MRD) levels after initial chemotherapy have a poor clinical outcome. In this prospective, single arm, Phase 2 trial, 111 Dutch and Australian children aged 1-18 years with newly diagnosed, t(9; 22)-negative ALL, were

  16. High-risk childhood acute lymphoblastic leukemia in first remission treated with novel intensive chemotherapy and allogeneic transplantation.

    NARCIS (Netherlands)

    Marshall, G.M.; Pozza, L. Dalla; Sutton, R.; Ng, A.; Groot-Kruseman, H.A. de; Velden, V.H. van der; Venn, N.C.; Berg, H. van den; Bont, E.S. de; rten Egeler, R. Maa; Hoogerbrugge, P.M.; Kaspers, G.J.L.; Bierings, M.B.; Schoot, E. van der; Dongen, J. Van; Law, T.; Cross, S.; Mueller, H.; Haas, V. de; Haber, M.; Revesz, T.; Alvaro, F.; Suppiah, R.; Norris, M.D.; Pieters, R.

    2013-01-01

    Children with acute lymphoblastic leukemia (ALL) and high minimal residual disease (MRD) levels after initial chemotherapy have a poor clinical outcome. In this prospective, single arm, Phase 2 trial, 111 Dutch and Australian children aged 1-18 years with newly diagnosed, t(9;22)-negative ALL, were

  17. A subtype of childhood acute lymphoblastic leukaemia with poor treatment outcome: a genome-wide classification study

    NARCIS (Netherlands)

    M.L. den Boer (Monique); M.A. van Slegtenhorst (Marjon); R.X. de Menezes (Renee); M.H. Cheok (Meyling); J.G.C.A.M. Buijs-Gladdines (Jessica); S.T.C.J.M. Arentsen-Peters (Susan); L.J.C.M. van Zutven (Laura); H.B. Beverloo (Berna); P.J. van der Spek (Peter); G. Escherich (Gabriele); M.A. Horstmann (Martin); G.E. Janka-Schaub (Gritta); W.A. Kamps (Willem); W.E. Evans (William); R. Pieters (Rob)

    2009-01-01

    textabstractBackground: Genetic subtypes of acute lymphoblastic leukaemia (ALL) are used to determine risk and treatment in children. 25% of precursor B-ALL cases are genetically unclassified and have intermediate prognosis. We aimed to use a genome-wide study to improve prognostic classification of

  18. High-risk childhood acute lymphoblastic leukemia in first remission treated with novel intensive chemotherapy and allogeneic transplantation

    NARCIS (Netherlands)

    Marshall, G. M.; Dalla Pozza, L.; Sutton, R.; Ng, A.; de Groot-Kruseman, H. A.; van der Velden, V. H.; Venn, N. C.; van den Berg, H.; de Bont, E. S. J. M.; Egeler, R. Maarten; Hoogerbrugge, P. M.; Kaspers, G. J. L.; Bierings, M. B.; van der Schoot, E.; van Dongen, J.; Law, T.; Cross, S.; Mueller, H.; de Haas, V.; Haber, M.; Révész, T.; Alvaro, F.; Suppiah, R.; Norris, M. D.; Pieters, R.

    2013-01-01

    Children with acute lymphoblastic leukemia (ALL) and high minimal residual disease (MRD) levels after initial chemotherapy have a poor clinical outcome. In this prospective, single arm, Phase 2 trial, 111 Dutch and Australian children aged 1-18 years with newly diagnosed, t(9;22)-negative ALL, were

  19. Association of inclusion body myositis with T cell large granular lymphocytic leukaemia

    DEFF Research Database (Denmark)

    Greenberg, Steven A; Pinkus, Jack L; Amato, Anthony A

    2016-01-01

    SEE HOHLFELD AND SCHULZE-KOOPS DOI101093/BRAIN/AWW053 FOR A SCIENTIFIC COMMENTARY ON THIS ARTICLE: Inclusion body myositis and T cell large granular lymphocytic leukaemia are rare diseases involving pathogenic cytotoxic CD8+ T cells. After encountering four patients with both disorders, we...... prospectively screened 38 patients with inclusion body myositis for the presence of expanded large granular lymphocyte populations by standard clinical laboratory methods (flow cytometry, examination of blood smears, and T cell receptor gene rearrangements), and performed muscle immunohistochemistry for CD8, CD......57, and TIA1. Most (22/38; 58%) patients with inclusion body myositis had aberrant populations of large granular lymphocytes in their blood meeting standard diagnostic criteria for T cell large granular lymphocytic leukaemia. These T cell populations were clonal in 20/20 patients and stably present...

  20. Surgical Treatment of Traumatic Myositis Ossificans of the Extensor Carpi Radialis Muscle in a Dog.

    Science.gov (United States)

    Morton, Bridget A; Hettlich, Bianca F; Pool, Roy R

    2015-07-01

    To report clinical signs, diagnostic imaging findings, and outcome in a dog with traumatic myositis ossificans of the origin of the extensor carpi radialis muscle. Clinical report. An 8-month-old intact female Irish Setter Dog. After radiographic and computed tomographic evaluation of an osseous proliferation arising from the cranial cortex of the right distal humeral diaphysis, the protruding bone was surgically removed and evaluated by histopathology. Traumatic myositis ossificans was successfully treated with surgical removal of the osseous proliferation resulting in improved postoperative range of motion of the right elbow joint. There was no evidence of lameness or abnormal bone regrowth associated with the surgical site radiographically at follow up. Surgical removal of a traumatic myositis ossificans lesion resulted in full return to function in a young, competitive show dog. © Copyright 2014 by The American College of Veterinary Surgeons.

  1. Sjögren's syndrome-associated myositis with germinal centre-like structures.

    Science.gov (United States)

    Espitia-Thibault, Alexandra; Masseau, Agathe; Néel, Antoine; Espitia, Olivier; Toquet, Claire; Mussini, Jean-Marie; Hamidou, Mohamed

    2017-02-01

    Muscular impairment is a rare systemic manifestation of SS that is rarely described in the literature and classically non-specific, both clinically and histologically. We reviewed the cases of 4 patients with primary SS presenting with myositis and a common histologic pattern on muscular biopsy with germinal centre-like structures resembling that which occurs in salivary glands. We analysed the data files of patients with SS who had muscular manifestations and underwent a muscular biopsy. Among 23 patients with SS who had muscle biopsies, 13 had non-specific myositis and 10 (4 primary and 6 secondary SS) had a common histologic pattern consisting of germinal centre-like structures. We analysed the data files of the 4 patients with primary SS presenting with myositis with muscular germinal-centre like structures. The 4 patients had an unspecific clinical presentation, with myalgias, muscular weakness and normal or elevated values of CPK. In the four patients, SS-associated myositis had common histologic characteristics, with endomysial and perimysial inflammatory infiltrate. The cellular infiltrate was composed predominantly of CD4+ T lymphocytes and B lymphocytes. The B and T CD4+ cells infiltrates may gather into masses, even forming lymphoid follicles. Three patients were treated with corticosteroids and/or hydroxychloroquine with improvement of myositis and 1 patient was lost to follow-up. We describe four patients with a common histologic appearance of myositis with lymphoid follicles associated with primary SS. The clinical presentation was non-specific and non-severe, with favorable outcome with corticosteroids and/or hydroxycholoroquine. The discovery of this particular histologic appearance in a muscle biopsy independent of the final diagnosis should indicate the possibility of SS. Copyright © 2016 Elsevier B.V. All rights reserved.

  2. Cytosolic 5′-nucleotidase 1A autoantibody profile and clinical characteristics in inclusion body myositis

    Science.gov (United States)

    Rietveld, A; Pye, S R; Mariampillai, K; Benveniste, O; Peeters, M T J; Miller, J A L; Hanna, M G; Machado, P M; Parton, M J; Gheorghe, K R; Badrising, U A; Lundberg, I E; Sacconi, S; Herbert, M K; McHugh, N J; Lecky, B R F; Brierley, C; Hilton-Jones, D; Lamb, J A; Roberts, M E; Cooper, R G; Saris, C G J; Pruijn, G J M; Chinoy, H; van Engelen, B G M

    2017-01-01

    Objectives Autoantibodies directed against cytosolic 5′-nucleotidase 1A have been identified in many patients with inclusion body myositis. This retrospective study investigated the association between anticytosolic 5′-nucleotidase 1A antibody status and clinical, serological and histopathological features to explore the utility of this antibody to identify inclusion body myositis subgroups and to predict prognosis. Materials and methods Data from various European inclusion body myositis registries were pooled. Anticytosolic 5′-nucleotidase 1A status was determined by an established ELISA technique. Cases were stratified according to antibody status and comparisons made. Survival and mobility aid requirement analyses were performed using Kaplan-Meier curves and Cox proportional hazards regression. Results Data from 311 patients were available for analysis; 102 (33%) had anticytosolic 5′-nucleotidase 1A antibodies. Antibody-positive patients had a higher adjusted mortality risk (HR 1.89, 95% CI 1.11 to 3.21, p=0.019), lower frequency of proximal upper limb weakness at disease onset (8% vs 23%, adjusted OR 0.29, 95% CI 0.12 to 0.68, p=0.005) and an increased prevalence of excess of cytochrome oxidase deficient fibres on muscle biopsy analysis (87% vs 72%, adjusted OR 2.80, 95% CI 1.17 to 6.66, p=0.020), compared with antibody-negative patients. Interpretation Differences were observed in clinical and histopathological features between anticytosolic 5′-nucleotidase 1A antibody positive and negative patients with inclusion body myositis, and antibody-positive patients had a higher adjusted mortality risk. Stratification of inclusion body myositis by anticytosolic 5′-nucleotidase 1A antibody status may be useful, potentially highlighting a distinct inclusion body myositis subtype with a more severe phenotype. PMID:28122761

  3. Cytosolic 5'-nucleotidase 1A autoantibody profile and clinical characteristics in inclusion body myositis.

    Science.gov (United States)

    Lilleker, J B; Rietveld, A; Pye, S R; Mariampillai, K; Benveniste, O; Peeters, M T J; Miller, J A L; Hanna, M G; Machado, P M; Parton, M J; Gheorghe, K R; Badrising, U A; Lundberg, I E; Sacconi, S; Herbert, M K; McHugh, N J; Lecky, B R F; Brierley, C; Hilton-Jones, D; Lamb, J A; Roberts, M E; Cooper, R G; Saris, C G J; Pruijn, G J M; Chinoy, H; van Engelen, B G M

    2017-05-01

    Autoantibodies directed against cytosolic 5'-nucleotidase 1A have been identified in many patients with inclusion body myositis. This retrospective study investigated the association between anticytosolic 5'-nucleotidase 1A antibody status and clinical, serological and histopathological features to explore the utility of this antibody to identify inclusion body myositis subgroups and to predict prognosis. Data from various European inclusion body myositis registries were pooled. Anticytosolic 5'-nucleotidase 1A status was determined by an established ELISA technique. Cases were stratified according to antibody status and comparisons made. Survival and mobility aid requirement analyses were performed using Kaplan-Meier curves and Cox proportional hazards regression. Data from 311 patients were available for analysis; 102 (33%) had anticytosolic 5'-nucleotidase 1A antibodies. Antibody-positive patients had a higher adjusted mortality risk (HR 1.89, 95% CI 1.11 to 3.21, p=0.019), lower frequency of proximal upper limb weakness at disease onset (8% vs 23%, adjusted OR 0.29, 95% CI 0.12 to 0.68, p=0.005) and an increased prevalence of excess of cytochrome oxidase deficient fibres on muscle biopsy analysis (87% vs 72%, adjusted OR 2.80, 95% CI 1.17 to 6.66, p=0.020), compared with antibody-negative patients. Differences were observed in clinical and histopathological features between anticytosolic 5'-nucleotidase 1A antibody positive and negative patients with inclusion body myositis, and antibody-positive patients had a higher adjusted mortality risk. Stratification of inclusion body myositis by anticytosolic 5'-nucleotidase 1A antibody status may be useful, potentially highlighting a distinct inclusion body myositis subtype with a more severe phenotype. Published by the BMJ Publishing Group Limited. For permission to use (where not already granted under a licence) please go to http://www.bmj.com/company/products-services/rights-and-licensing/.

  4. International consensus on preliminary definitions of improvement in adult and juvenile myositis.

    Science.gov (United States)

    Rider, Lisa G; Giannini, Edward H; Brunner, Hermine I; Ruperto, Nicola; James-Newton, Laura; Reed, Ann M; Lachenbruch, Peter A; Miller, Frederick W

    2004-07-01

    To use a core set of outcome measures to develop preliminary definitions of improvement for adult and juvenile myositis as composite end points for therapeutic trials. Twenty-nine experts in the assessment of myositis achieved consensus on 102 adult and 102 juvenile paper patient profiles as clinically improved or not improved. Two hundred twenty-seven candidate definitions of improvement were developed using the experts' consensus ratings as a gold standard and their judgment of clinically meaningful change in the core set of measures. Seventeen additional candidate definitions of improvement were developed from classification and regression tree analysis, a data-mining decision tree tool analysis. Six candidate definitions specifying percentage change or raw change in the core set of measures were developed using logistic regression analysis. Adult and pediatric working groups ranked the 13 top-performing candidate definitions for face validity, clinical sensibility, and ease of use, in which the sensitivity and specificity were >/=75% in adult, pediatric, and combined data sets. Nominal group technique was used to facilitate consensus formation. The definition of improvement (common to the adult and pediatric working groups) that ranked highest was 3 of any 6 of the core set measures improved by >/=20%, with no more than 2 worse by >/=25% (which could not include manual muscle testing to assess strength). Five and 4 additional preliminary definitions of improvement for adult and juvenile myositis, respectively, were also developed, with several definitions common to both groups. Participants also agreed to prospectively test 6 logistic regression definitions of improvement in clinical trials. Consensus preliminary definitions of improvement were developed for adult and juvenile myositis, and these incorporate clinically meaningful change in all myositis core set measures in a composite end point. These definitions require prospective validation, but they are now

  5. An intronic polymorphism of IRF4 gene influences gene transcription in vitro and shows a risk association with childhood acute lymphoblastic leukemia in males.

    Science.gov (United States)

    Do, Thuy N; Ucisik-Akkaya, Esma; Davis, Charronne F; Morrison, Brittany A; Dorak, M Tevfik

    2010-02-01

    The interferon regulatory factor (IRF) family of DNA-binding proteins regulates expression of interferon-inducible genes with roles in the immune response and carcinogenesis. IRF4 is involved in the differentiation of B and T cells and is overexpressed in B-cell malignancies as a result of c-REL (NF-kappaB) hyperactivation. IRF4 polymorphisms are associated with susceptibility to chronic lymphoid leukemia (CLL) and non-Hodgkin lymphoma (NHL). We examined 13 IRF4 SNPs in 114 cases of childhood acute lymphoblastic leukemia (ALL) and 388 newborn controls from Wales (U.K.) using TaqMan assays. IRF4 intron 4 SNP rs12203592 showed a male-specific risk association (OR=4.4, 95% CI=1.5 to 12.6, P=0.007). Functional consequences of the C>T substitution at this SNP were assessed by cell-based reporter assays using three different cell lines. We found a repressive effect of the rs12203592 wildtype allele C on IRF4 promoter activity (Pcell line tested. Thus, homozygosity for the rs12203592 variant allele would result in increased IRF4 expression. This increase would be compounded by high levels of NF-kappaB activity in males due to the absence of estrogen. IRF4 differs from other IRFs in its anti-interferon activity which interferes with immune surveillance. We propose that a detailed study of IRF4 can provide information on the mechanism of the sex effect and the role of immune surveillance in childhood ALL development. Copyright 2009 Elsevier B.V. All rights reserved.

  6. Botulinum toxin alleviates dysphagia of patients with inclusion body myositis.

    Science.gov (United States)

    Schrey, Aleksi; Airas, Laura; Jokela, Manu; Pulkkinen, Jaakko

    2017-09-15

    Oropharyngeal dysphagia is a disabling and undertreated symptom that often occurs in patients with sporadic inclusion body myositis (s-IBM). In this study, we examined the effect of botulinum neurotoxin A (BoNT-A) injections to the cricopharyngeus muscle (CPM) of patients with s-IBM and dysphagia. A single-center retrospective study involving 40 biopsy-proven s-IBM-patients treated in the District of Southwest Finland from 2000 to 2013. The incidence of dysphagia, rate of aspirations, rate of aspiration pneumonias and treatment results of dysphagia were analyzed. Patients treated for dysphagia were evaluated before and after surgery by video-fluoroscopy and/or using a questionnaire. Twenty-five of the 40 s-IBM patients (62.5%) experienced dysphagia. BoNT-A was injected a median of 2 times (range 1-7) in 12 patients with dysphagia. Before the injections 7 patients reported aspiration, none afterwards. The corresponding figures for aspiration pneumonia were 3 and 0. All of these patients had normal swallowing function 12months (median, range 2-60) after the last injection. BoNT-A injections to the CPM alleviate the dysphagia of s-IBM patients reversibly and appear to reduce the rate of aspiration effectively. Copyright © 2017 Elsevier B.V. All rights reserved.

  7. Evaluation and construction of diagnostic criteria for inclusion body myositis

    Science.gov (United States)

    Mammen, Andrew L.; Amato, Anthony A.; Weiss, Michael D.; Needham, Merrilee

    2014-01-01

    Objective: To use patient data to evaluate and construct diagnostic criteria for inclusion body myositis (IBM), a progressive disease of skeletal muscle. Methods: The literature was reviewed to identify all previously proposed IBM diagnostic criteria. These criteria were applied through medical records review to 200 patients diagnosed as having IBM and 171 patients diagnosed as having a muscle disease other than IBM by neuromuscular specialists at 2 institutions, and to a validating set of 66 additional patients with IBM from 2 other institutions. Machine learning techniques were used for unbiased construction of diagnostic criteria. Results: Twenty-four previously proposed IBM diagnostic categories were identified. Twelve categories all performed with high (≥97%) specificity but varied substantially in their sensitivities (11%–84%). The best performing category was European Neuromuscular Centre 2013 probable (sensitivity of 84%). Specialized pathologic features and newly introduced strength criteria (comparative knee extension/hip flexion strength) performed poorly. Unbiased data-directed analysis of 20 features in 371 patients resulted in construction of higher-performing data-derived diagnostic criteria (90% sensitivity and 96% specificity). Conclusions: Published expert consensus–derived IBM diagnostic categories have uniformly high specificity but wide-ranging sensitivities. High-performing IBM diagnostic category criteria can be developed directly from principled unbiased analysis of patient data. Classification of evidence: This study provides Class II evidence that published expert consensus–derived IBM diagnostic categories accurately distinguish IBM from other muscle disease with high specificity but wide-ranging sensitivities. PMID:24975859

  8. Myositis ossificans around shoulder following military training programme

    Directory of Open Access Journals (Sweden)

    Mustafa C Kir

    2011-01-01

    Full Text Available The myositis ossificans around shoulder in military recruits are not reported yet. Three young male soldiers presented with complaints of palpable mass at the anterior aspect of shoulder; tenderness around the superior part of deltopectoral groove close to acromioclavicular joint; and restriction of shoulder motion. They also noticed ecchymosis and pain around the coracoid process and anterior shoulder region during regular firing exercises. Plain X-rays and computerized tomography showed extra-capsular, dense, irregular structure in the space between pectoralis and deltoid muscles which correlated with heterotopic bone. One patient refused surgical intervention because of the completion of his military serving period. Surgical excision was performed for the other two patients. During surgical exploration, both ossified masses were found in deltopectoral region and mostly in fibers of clavicular and acromial parts of deltoid muscle. Pathological reports confirmed the structure of masses as mature trabecular bone. Postoperatively indomethacin treatment and active shoulder exercises were started until the full range of motion was regained. Mini soft bag was used on the rifle contact area of the shoulder. No complications or recurrences were observed during the 24 months of followup period.

  9. Prognostic significance of bi/oligoclonality in childhood acute lymphoblastic leukemia as determined by polymerase chain reaction

    Directory of Open Access Journals (Sweden)

    Carlos Alberto Scrideli

    2001-09-01

    Full Text Available CONTEXT: The CDR-3 region of heavy-chain immunoglobulin has been used as a clonal marker in the study of minimal residual disease in children with acute lymphoblastic leukemia. Southern blot and polymerase chain reaction studies have demonstrated the occurrence of bi/oligoclonality in a variable number of cases of B-lineage acute lymphoblastic leukemia, a fact that may strongly interfere with the detection of minimal residual disease. Oligoclonality has also been associated with a poorer prognosis and a higher chance of relapse. OBJECTIVES: To correlate bi/oligoclonality, detected by polymerase chain reaction in Brazilian children with B-lineage acute lymphoblastic leukemia with a chance of relapse, with immunophenotype, risk group, and disease-free survival. DESIGN: Prospective study of patients’ outcome. SETTING: Pediatric Oncology Unit of the University Hospital, Faculty of Medicine of Ribeirão Preto, University of São Paulo. PARTICIPANTS: 47 children with acute lymphoblastic leukemia DIAGNOSTIC TEST: Polymerase chain reaction using consensus primers for the CDR-3 region of heavy chain immunoglobulin (FR3A, LJH and VLJH for the detection of clonality. RESULTS: Bi/oligoclonality was detected in 15 patients (31.9%. There was no significant difference between the groups with monoclonality and biclonality in terms of the occurrence of a relapse (28.1% versus 26.1%, presence of CALLA+ (81.2% versus 80% or risk group (62.5% versus 60%. Disease-free survival was similar in both groups, with no significant difference (p: 0.7695. CONCLUSIONS: We conclude that bi/oligoclonality was not associated with the factors investigated in the present study and that its detection in 31.9% of the patients may be important for the study and monitoring of minimal residual disease.

  10. Long-term results of NOPHO ALL-92 and ALL-2000 studies of childhood acute lymphoblastic leukemia

    DEFF Research Database (Denmark)

    Schmiegelow, K; Forestier, E; Hellebostad, M

    2010-01-01

    Analysis of 2668 children with acute lymphoblastic leukemia (ALL) treated in two successive Nordic clinical trials (Nordic Society of Paediatric Haematology and Oncology (NOPHO) ALL-92 and ALL-2000) showed that 75% of all patients are cured by first-line therapy, and 83% are long-term survivors....... Improvements in systemic and intrathecal chemotherapy have reduced the use of central nervous system (CNS) irradiation to...

  11. Adult Niemann-Pick disease type B with myositis ossificans: a case report

    Directory of Open Access Journals (Sweden)

    Russka Shumnalieva

    2016-07-01

    Full Text Available Niemann-Pick Disease (NPD is a rare autosomal recessive lysosomal lipid storage disorder. The disease is caused by gene mutations that affect the metabolism of sphingolipids. The dysfunctions cause sphingomyelin to accumulate in different organs. NPD includes forms with low and high levels of sphingomyelin. We report a case of a 34 year-old man with a family history of NPD type B who presented with hepatosplenomegaly, neurological deficiency, bone abnormalities, and myositis ossificans. The clinical, biochemical, and imaging data confirmed the combined diagnosis of NPD type B with myositis ossificans.

  12. Proliferating Myositis: An Inflammatory Lesion often Misdiagnosed as A Malignant Tumor.

    Science.gov (United States)

    Binesh, Fariba; Sobhanardekani, Mohammad; Zabihi, Somayeh; Behniafard, Nasim

    2016-12-01

    Proliferative myositis (PM) is a rare inflammatory disease. Most commonly, the lesion occurs in the extremities. Regarding its fast growth and bizarre shape of the cellular components this entity commonly misdiagnosed and the patients undergo improper therapeutic approaches. In other words, it is often misdiagnosed as sarcoma. The diagnosis can only be made by the microscopic examination, so biopsy is mandatory. Here the authors report a patient with PM who was initially misdiagnosed as pleomorphic sarcoma of the lower extremity and explain this rare entity. Proliferative myositis should be taken into account if a fast growing, intramuscular mass occurs in the extremities.

  13. Blood-flow restricted resistance training in patients with sporadic inclusion body myositis

    DEFF Research Database (Denmark)

    Jørgensen, A.; Aagaard, P.; Frandsen, U.

    2018-01-01

    Objectives: To investigate the effect of 12 weeks of low-load blood-flow restricted resistance (BFR) training on self-reported and objective physical function, and maximal muscle strength in patients with sporadic inclusion body myositis (sIBM). Method: Twenty-two patients with sIBM were randomized......), which was used to measure self-reported physical function. All patients performed physical function tests (2-Minute Walk Test, Timed Up and Go, and 30-Second Chair Stand), completed the Inclusion Body Myositis Functional Rating Scale (IBMFRS), and were tested for isolated knee extensor muscle strength...

  14. Fatal Tuberculous Myositis in an Immunocompromised Adult With Primary Sjögren's Syndrome

    Directory of Open Access Journals (Sweden)

    Chi-Chang Huang

    2010-09-01

    Full Text Available Tuberculous myositis, which mimics rheumatic symptoms, is an extremely rare disease. Clinical ambiguity easily leads to misdiagnosis and delayed initial treatment. We present the case of a 55-year-old man who had primary Sjögren's syndrome and active cutaneous vasculitis treated with steroid and immunosuppressive drugs. He presented with a swollen, painful, hot left thigh. Although anti-tuberculosis medications were administered soon after a positive acid-fast stain of incisional muscular tissue, he died of rapidly progressive tuberculous myositis and multiorgan failure following 18 days of hospitalization. This case is presented to increase the awareness of this rare entity in clinical practice.

  15. Family-based exome-wide assessment of maternal genetic effects on susceptibility to childhood B-cell acute lymphoblastic leukemia in Hispanics

    Science.gov (United States)

    Archer, Natalie P.; Perez-Andreu, Virginia; Scheurer, Michael E.; Rabin, Karen R.; Peckham-Gregory, Erin C.; Plon, Sharon E.; Zabriskie, Ryan C.; De Alarcon, Pedro A.; Fernandez, Karen S.; Najera, Cesar R.; Yang, Jun J.; Antillon-Klussmann, Federico; Lupo, Philip J.

    2016-01-01

    Background Children of Hispanic ancestry have a higher incidence of acute lymphoblastic leukemia (ALL) than other ethnic groups, but the genetic basis for racial disparities remain incompletely understood. Genome-wide association studies (GWAS) of childhood ALL to date have focused on inherited genetic effects; however, maternal genetic effects (the role of maternal genotype on offspring phenotype development) may also play a role in ALL susceptibility. Methods We conducted a family-based exome-wide association study (EXWAS) of maternal genetic effects among Hispanics with childhood B-cell ALL (B-ALL) using the Illumina Human Exome BeadChip. We used a discovery cohort of 312 Guatemalan and Hispanic American families and an independent replication cohort of 152 Hispanic American families. Results Three maternal SNPs approached our threshold for significance, after correction for multiple testing (P<1.0×10−6): MTL5 rs12365708 (RR=2.62, 95% CI=1.61-4.27, P=1.8×10−5); ALKBH1 rs6494 (RR=3.77, 95% CI=1.84-7.74, P=3.7×10−5); NEUROG3 rs4536103 (RR=1.75, 95% CI=1.30-2.37, P=1.2×10−4). While effect sizes were similar, these SNPs were not nominally significant in our replication cohort. In a meta-analysis comprised of the discovery cohort and the replication cohort, these SNPs were still not statistically significant after correction for multiple comparisons (rs12365708: pooled RR=2.27, 95% CI=1.48-3.50, P=1.99×10−4; rs6494: pooled RR=2.31, 95% CI=1.38-3.85, P=0.001; rs4536103: pooled RR=1.67, 95% CI=1.29-2.16, P=9.23×10−5). Conclusions In the first family-based EXWAS to investigate maternal genotype effects associated with childhood ALL, our results did not implicate a strong role of maternal genotype on disease risk among Hispanics; however, we identified three maternal SNPs that may play a modest role in susceptibility. PMID:27529658

  16. Potential gonadotoxicity of treatment in relation to quality of life and mental well-being of male survivors of childhood acute lymphoblastic leukemia.

    Science.gov (United States)

    Gunn, Mirja Erika; Lähteenmäki, Päivi Maria; Puukko-Viertomies, Leena-Riitta; Henriksson, Markus; Heikkinen, Risto; Jahnukainen, Kirsi

    2013-09-01

    Results of earlier studies concerning quality of life (QOL) and psychosocial coping of childhood acute lymphoblastic leukemia (ALL) survivors have been inconsistent. Some treatments for ALL affect testicular function and we hypothesized that this may influence the QOL and psychosocial coping of male survivors. Our aims were to assess the QOL and psychosocial coping of male long-term ALL survivors and to evaluate the effect of both testosterone level and the potential gonadotoxicity of various treatment modalities on them. Fifty-two male long-term survivors treated for childhood ALL at Helsinki University Hospital between 1970 and 1995, and 56 age- and gender-matched controls were studied. The participants completed a self-report questionnaire including questions on sociodemographics, RAND-36 to assess QOL, General Health Questionnaire and Beck Depression Inventory to assess mental well-being, and CAGE to assess alcohol abuse/dependence. Testosterone levels were measured, and treatment details were reviewed. ALL survivors in general had QOL close to that of controls or population norms. Decreased QOL was seen in physical health-related subscales, and vitality and emotional well-being were lowered in survivors with more gonadotoxic treatment modalities. No single independent factor in the treatment or the level of testosterone could, however, be found to clearly explain the variation in QOL scores of the survivors. Mental well-being of most of the survivors was good, but a subgroup with previous cyclophosphamide treatment or testicular irradiation showed increased risk of psychiatric morbidity. The male ALL survivors generally cope well, but increased focus on specific risk groups seems to be necessary. Further studies using patient interviews would probably point out issues concerning the QOL and psychosocial coping of ALL survivors, which may not emerge in these screening studies. In general, more attention should be paid for physical functioning of childhood ALL

  17. Whole-exome sequencing of a rare case of familial childhood acute lymphoblastic leukemia reveals putative predisposing mutations in Fanconi anemia genes.

    Science.gov (United States)

    Spinella, Jean-François; Healy, Jasmine; Saillour, Virginie; Richer, Chantal; Cassart, Pauline; Ouimet, Manon; Sinnett, Daniel

    2015-07-23

    Acute lymphoblastic leukemia (ALL) is the most common pediatric cancer. While the multi-step model of pediatric leukemogenesis suggests interplay between constitutional and somatic genomes, the role of inherited genetic variability remains largely undescribed. Nonsyndromic familial ALL, although extremely rare, provides the ideal setting to study inherited contributions to ALL. Toward this goal, we sequenced the exomes of a childhood ALL family consisting of mother, father and two non-twinned siblings diagnosed with concordant pre-B hyperdiploid ALL and previously shown to have inherited a rare form of PRDM9, a histone H3 methyltransferase involved in crossing-over at recombination hotspots and Holliday junctions. We postulated that inheritance of additional rare disadvantaging variants in predisposing cancer genes could affect genomic stability and lead to increased risk of hyperdiploid ALL within this family. Whole exomes were captured using Agilent's SureSelect kit and sequenced on the Life Technologies SOLiD System. We applied a data reduction strategy to identify candidate variants shared by both affected siblings. Under a recessive disease model, we focused on rare non-synonymous or frame-shift variants in leukemia predisposing pathways. Though the family was nonsyndromic, we identified a combination of rare variants in Fanconi anemia (FA) genes FANCP/SLX4 (compound heterozygote - rs137976282/rs79842542) and FANCA (rs61753269) and a rare homozygous variant in the Holliday junction resolvase GEN1 (rs16981869). These variants, predicted to affect protein function, were previously identified in familial breast cancer cases. Based on our in-house database of 369 childhood ALL exomes, the sibs were the only patients to carry this particularly rare combination and only a single hyperdiploid patient was heterozygote at both FANCP/SLX4 positions, while no FANCA variant allele carriers were identified. FANCA is the most commonly mutated gene in FA and is essential for

  18. The Role of Type I Insulin Like Growth Factor Receptor (IGF-IR) in Adult and Childhood Acute Lymphoblastic Leukemia

    International Nuclear Information System (INIS)

    KAMEL, M.M.; HAMMAM, A.A.; ELHOSEINY, Sh.M.; MOKHLES, A.; MOHSEN, E.

    2008-01-01

    Background: Type 1 insulin like growth factor receptor (IGF-IR) is over expressed in many tumors including hematological cancers. It is a critical signaling molecule for tumor cell proliferation and survival. Data suggest that IGF-IR antibodies can effectively and specifically inhibit cancer cell growth in vitro and in vivo. Blockage of IGF-IR expression could be a promising therapeutic approach for the management of cancer patients. Aim of Work: To characterize the expression pattern of IGF-IR gene in malignant lymphoblasts of children and adults suffering from ALL in relation to clinical features at diagnosis. Patients and Methods: The expression of IGF-IR was analyzed in 60 patients with ALL, 30 childhood ALL (16 newly diagnosed and 14 in complete remission) and 30 adulthood ALL (15 newly diagnosed and 15 in complete remission) together with 20 normal age and sex matched healthy controls using a Real-Time Quantitative Reverse- Transcriptase Polymerase Chain Reaction (RTQ-PCR) to assess the possible relation, association or correlation between IGF-IR expression and ALL clinical and laboratory features at diagnosis. Results: IGF-IR was expressed in all 60 patients with ALL; the expression levels of IGF-IR were significantly higher in newly diagnosed patients than in patients in complete remission (CR) and controls (p<0.001). There were no statistically significant differences in the expression of IGF-IR between patients with different clinical and laboratory features. Conclusion: IGF-1R seems to play a crucial role in patients with ALL since it is expressed in all ALL cases (adulthood and childhood). Therefore, new therapeutic agents targeting IGF-1R may provide a better chance for those patients

  19. Randomized, double-blind clinical trial of a lactose-free and a lactose-containing formula in dietary management of acute childhood diarrhea.

    Science.gov (United States)

    Simakachorn, Nipat; Tongpenyai, Yothi; Tongtan, Orapin; Varavithya, Wandee

    2004-06-01

    Refeeding of artificially fed infants with lactose-containing formula after oral rehydration therapy in the treatment of acute diarrhea was concluded to be indifferent to non-lactose formula by a meta-analysis. In Thai as well as Asian infants and children with low lactase level from genetically determinant and with rotavirus infection, lactose malabsorption is most likely to occur and cause delayed recovery. The aim of this study was to compare the effect of a lactose-free and a lactose-containing formula in dietary management of acute childhood diarrhea. A randomized, double-blind clinical trial of 80 male children, formula-fed, aged 3 to 24 months, admitted with acute watery diarrhea and mild or moderate dehydration, was carried out. All children received oral rehydration therapy for the first 4 hours. After appropriate rehydration, they were fed either a lactose-free formula (Dumex Lactose-Free Formula; treatment group, n = 40) or a lactose-containing formula (Dumex Infant Formula; control group, n = 40) in adjunction with oral rehydration solution. In addition, the infants were fed rice gruel as tolerated. Comparisons of duration of diarrhea, weight gain, vomiting, biochemical changes, stool frequency and weight and unscheduled intravenous fluid were made. Three children (2 treatment, and 1 control) dropped out from the study. The total number of unscheduled intravenous infusions were 6 of 80 children (7.5%), including 2 (5.0%) in the treatment group and 4 (10.0%) in the control group. Three children in the control group did not resolve from diarrhea within 7 days of treatment. Rotavirus was identified in approximately 50% of the children in each group. Using survival analysis, the median duration of diarrhea was significantly shortened by 20.5 hours in the treatment group compared to the control group (77.0 hours in the treatment group vs 97.5 hours in the control group; P = 0.002). Significantly decrease in stool frequency and increase in percent weight gain

  20. CD19/CD22 Chimeric Antigen Receptor T Cells and Chemotherapy in Treating Children or Young Adults With Recurrent or Refractory CD19 Positive B Acute Lymphoblastic Leukemia

    Science.gov (United States)

    2017-11-20

    B Acute Lymphoblastic Leukemia; CD19 Positive; Minimal Residual Disease; Philadelphia Chromosome Positive; Recurrent Adult Acute Lymphoblastic Leukemia; Recurrent Childhood Acute Lymphoblastic Leukemia; Refractory Acute Lymphoblastic Leukemia

  1. Sequential Oral Hydroxyurea and Intravenous Cytosine Arabinoside in Refractory Childhood Acute Leukemia: A Pediatric Oncology Group Phase I Study

    OpenAIRE

    Dubowy, Ronald; Graham, Michael; Hakami, Nasrollah; Kletzel, Morris; Mahoney, Donald; Newman, Edward; Ravindranath, Yaddanapudi; Camitta, Bruce

    2008-01-01

    At concentrations >0.1 mM, Hydroxyurea (HU) enhances the accumulation of cytosine arabinoside (ara-C) in leukemia cells in vitro. This study of children with refractory acute leukemia was designed to take advantage of this biochemical modulation. A fixed dose of HU and an escalating dose of ara-C were used. Oral HU, 1200 mg/m2 was followed 2 hours later by ara-C, 250-3100 mg/m2 intravenously in 15 minutes. The combination was given on days 1,2,3 and 8,9,10. Thirty-three children (26 ALL, 7 AN...

  2. Chemotherapy for Initial Induction Failures in Childhood Acute Lymphoblastic Leukemia: a Children’s Oncology Group Study (POG 8764)

    OpenAIRE

    Joyce, Michael; Pollock, Brad H.; Devidas, Meenakshi; Buchanan, George; Camitta, Bruce

    2013-01-01

    Children with acute lymphocytic leukemia (ALL) who fail to enter remission have a poor prognosis. In a previous study, 9 of 14 children with induction failure entered remission after teniposide (VM26) plus cytosine arabinoside (Ara-C). We attempted to confirm these results. Twenty children received teniposide (200 mg/m2/day IV) for 3 days and cytosine arabinoside (100 mg/m2/day continuous IV infusion) for 7 days. There were 3 complete and 3 partial responses. Two additional patients achieved ...

  3. An animal model to study toxicity of central nervous system therapy for childhood acute lymphoblastic leukemia: Effects on behavior

    International Nuclear Information System (INIS)

    Mullenix, P.J.; Kernan, W.J.; Tassinari, M.S.; Schunior, A.; Waber, D.P.; Howes, A.; Tarbell, N.J.

    1990-01-01

    Central nervous system prophylactic therapy used in the treatment of acute lymphoblastic leukemia can reduce intelligence quotient scores and impair memory and attention in children. Cranial irradiation, intrathecal methotrexate, and steroids are commonly utilized in acute lymphoblastic leukemia therapy. How they induce neurotoxicity is unknown. This study employs an animal model to explore the induction of neurotoxicity. Male and female Sprague-Dawley rats at 17 and 18 days of age were administered 18 mg/kg prednisolone, 2 mg/kg methotrexate, and 1000 cGy cranial irradiation. Another 18-day-old group was administered 1000 cGy cranial irradiation but no drugs. Matching controls received saline and/or a sham exposure to radiation. All animals at 6 weeks and 4 months of age were tested for alterations in spontaneous behavior. A computer pattern recognition system automatically recorded and classified individual behavioral acts displayed during exploration of a novel environment. Measures of behavioral initiations, total time, and time structure were used to compare treated and control animals. A permanent sex-specific change in the time structure of behavior was induced by the prednisolone, methotrexate, and radiation treatment but not by radiation alone. Unlike hyperactivity, the effect consisted of abnormal clustering and dispersion of acts in a pattern indicative of disrupted development of sexually dimorphic behavior. This study demonstrates the feasibility of an animal model delineating the agent/agents responsible for the neurotoxicity of central nervous system prophylactic therapy

  4. Lymphoid Progenitor Cells from Childhood Acute Lymphoblastic Leukemia Are Functionally Deficient and Express High Levels of the Transcriptional Repressor Gfi-1

    Directory of Open Access Journals (Sweden)

    Jessica Purizaca

    2013-01-01

    Full Text Available Acute lymphoblastic leukemia (ALL is the most frequent malignancy of childhood. Substantial progress on understanding the cell hierarchy within ALL bone marrow (BM has been recorded in the last few years, suggesting that both primitive cell fractions and committed lymphoid blasts with immature stem cell-like properties contain leukemia-initiating cells. Nevertheless, the biology of the early progenitors that initiate the lymphoid program remains elusive. The aim of the present study was to investigate the ability of lymphoid progenitors from B-cell precursor ALL BM to proliferate and undergo multilineage differentiation. By phenotype analyses, in vitro proliferation assays, and controlled culture systems, the lymphoid differentiation potentials were evaluated in BM primitive populations from B-cell precursor ALL pediatric patients. When compared to their normal counterparts, functional stem and progenitor cell contents were substantially reduced in ALL BM. Moreover, neither B nor NK or dendritic lymphoid-cell populations developed recurrently from highly purified ALL-lymphoid progenitors, and their proliferation and cell cycle status revealed limited proliferative capacity. Interestingly, a number of quiescence-associated transcription factors were elevated, including the transcriptional repressor Gfi-1, which was highly expressed in primitive CD34+ cells. Together, our findings reveal major functional defects in the primitive hematopoietic component of ALL BM. A possible contribution of high levels of Gfi-1 expression in the regulation of the stem/progenitor cell biology is suggested.

  5. The impact of therapy for childhood acute lymphoblastic leukaemia on intelligence quotients; results of the risk-stratified randomized central nervous system treatment trial MRC UKALL XI

    Directory of Open Access Journals (Sweden)

    Vargha-Khadem Faraneh

    2011-10-01

    Full Text Available Abstract Background The MRC UKALLXI trial tested the efficacy of different central nervous system (CNS directed therapies in childhood acute lymphoblastic leukaemia (ALL. To evaluate morbidity 555/1826 randomised children underwent prospective psychological evaluations. Full Scale, verbal and performance IQs were measured at 5 months, 3 years and 5 years. Scores were compared in; (1 all patients (n = 555 versus related controls (n = 311, (2 low-risk children (presenting white cell count (WCC 9/l randomised to intrathecal methotrexate (n = 197 versus intrathecal and high-dose intravenous methotrexate (HDM (n = 202, and (3 high-risk children (WCC ≥ 50 × 109/l, age ≥ 2 years randomised to HDM (n = 79 versus cranial irradiation (n = 77. Results There were no significant differences in IQ scores between the treatment arms in either low- or high-risk groups. Despite similar scores at baseline, results at 3 and 5 years showed a significant reduction of between 3.6 and 7.3 points in all three IQ scores in all patient groups compared to controls (P Conclusion Children with ALL are at risk of CNS morbidity, regardless of the mode of CNS-directed therapy. Further work needs to identify individuals at high-risk of adverse CNS outcomes. Trial registration ISRCTN: ISRCTN16757172

  6. An animal model to study toxicity of central nervous system therapy for childhood acute lymphoblastic leukemia: Effects on growth and craniofacial proportion

    International Nuclear Information System (INIS)

    Schunior, A.; Zengel, A.E.; Mullenix, P.J.; Tarbell, N.J.; Howes, A.; Tassinari, M.S.

    1990-01-01

    Many long term survivors of childhood acute lymphoblastic leukemia have short stature, as well as craniofacial and dental abnormalities, as side effects of central nervous system prophylactic therapy. An animal model is presented to assess these adverse effects on growth. Cranial irradiation (1000 cGy) with and without prednisolone (18 mg/kg i.p.) and methotrexate (2 mg/kg i.p.) was administered to 17- and 18-day-old Sprague-Dawley male and female rats. Animals were weighed 3 times/week. Final body weight and body length were measured at 150 days of age. Femur length and craniofacial dimensions were measured directly from the bones, using calipers. For all exposed groups there was a permanent suppression of weight gain with no catch-up growth or normal adolescent growth spurt. Body length was reduced for all treated groups, as were the ratios of body weight to body length and cranial length to body length. Animals subjected to cranial irradiation exhibited microcephaly, whereas those who received a combination of radiation and chemotherapy demonstrated altered craniofacial proportions in addition to microcephaly. Changes in growth patterns and skeletal proportions exhibited sexually dimorphic characteristics. The results indicate that cranial irradiation is a major factor in the growth failure in exposed rats, but chemotherapeutic agents contribute significantly to the outcome of growth and craniofacial dimensions

  7. Association of Anti-3-Hydroxy-3-Methylglutaryl-Coenzyme A Reductase Autoantibodies With DRB1*07:01 and Severe Myositis in Juvenile Myositis Patients.

    Science.gov (United States)

    Kishi, Takayuki; Rider, Lisa G; Pak, Katherine; Barillas-Arias, Lilliana; Henrickson, Michael; McCarthy, Paul L; Shaham, Bracha; Weiss, Pamela F; Horkayne-Szakaly, Iren; Targoff, Ira N; Miller, Frederick W; Mammen, Andrew L

    2017-07-01

    Autoantibodies recognizing 3-hydroxy-3-methylglutaryl-coenzyme A reductase (HMGCR) are associated with statin exposure, the HLA allele DRB1*11:01, and necrotizing muscle biopsies in adult myositis patients. The aim of this study was to characterize the features of juvenile anti-HMGCR-positive myositis patients. The sera of 440 juvenile myositis patients were screened for anti-HMGCR autoantibodies. Demographic and clinical features, responses to therapy, and HLA alleles were assessed. The features of anti-HMGCR-positive patients were compared to those of previously described adult patients with this autoantibody and to children with other myositis-specific autoantibodies (MSAs). Five of 440 patients (1.1%) were anti-HMGCR-positive; none had taken statin medications. Three patients had rashes characteristic of juvenile dermatomyositis and 2 patients had immune-mediated necrotizing myopathies. The median highest creatine kinase (CK) level of anti-HMGCR-positive subjects was 17,000 IU/liter. All patients had severe proximal muscle weakness, distal weakness, muscle atrophy, joint contractures, and arthralgias, which were all more prevalent in HMGCR-positive subjects compared to MSA-negative patients or those with other MSAs. Anti-HMGCR-positive patients had only partial responses to multiple immunosuppressive medications, and their disease often took a chronic course. The DRB1*07:01 allele was present in all 5 patients, compared to 26.25% of healthy controls (corrected P = 0.01); none of the 5 juvenile patients had DRB1*11:01. Compared to children with other MSAs, muscle disease appears to be more severe in those with anti-HMGCR autoantibodies. Like adults, children with anti-HMGCR autoantibodies have severe weakness and high CK levels. In contrast to adults, in anti-HMGCR-positive children, there is a strong association with HLA-DRB1*07:01. © 2017, American College of Rheumatology.

  8. Shorter maintenance therapy in childhood Acute Lymphoblastic Leukemia. The experience of the prospective, randomized Brazilian GBTLI ALL-93 protocol.

    Directory of Open Access Journals (Sweden)

    Silvia Regina Brandalise

    2016-10-01

    Full Text Available Maintenance therapy is an important phase of the childhood ALL treatment, requiring 2-year long therapy adherence of the patients and families. Weekly methotrexate (MTX with daily 6-mercaptopurine (6MP constitutes the backbone of maintenance therapy. Reduction in the maintenance therapy could overweight problems related with poverty of children with ALL living in Limited-Income countries (LIC. Objective: To compare, prospectively, the EFS rates of children with ALL treated according to two maintenance regimens: 18 vs 24 months duration. Materials and Methods: From October 1993 to September 1999, 867 consecutive untreated ALL patients 10 years and high WBC at diagnosis. Overall death in remission rate was 6.85% (56 patients. Deaths during maintenance were 13 in group 1 and 12 in group 2, all due to infection. Over 15 years of follow-up, two patients both from Group 2 presented a second malignancy (Hodgkin’s disease and thyroid carcinoma after 8.3 and 11 years off therapy, respectively. Conclusion: Six-month reduction of maintenance therapy in ALL children treated according to the GBTLI ALL-93 protocol, provided the same overall outcome as 2-year duration regimen.

  9. Complications in the central nervous system during chemotherapy for childhood acute lymphoblastic leukemia. JACLS ALL-02 study

    International Nuclear Information System (INIS)

    Umeda, Katsutsugu; Yoshida, Makoto; Suzuki, Nobuhiro

    2007-01-01

    We evaluated central nervous system (CNS) complications treated under the ALL-02 protocol of the Japan Association of Childhood Leukemia Study (JACLS) from April 2002 to March 2005. According to National Cancer Institute (NCI) Toxicity Criteria, 17 events of grade 3 and 4 CNS complications were reported in 15 out of 541 patients. Out of these CNS complications, leukoencephalopathy was seen in 5 patients; seizure in 5; cerebrovascular disease in 3; conscious disturbance in 2; and hypertensive encephalopathy and reversible posterior leukoencephalopathy syndrome in one patient each. The complications were intensively observed during induction therapy and the last of the early phase chemotherapy. The protocol treatment was stopped or modified in most patients after CNS complications. MRI imaging demonstrated no improvement in one patient with leukoencephalopathy who developed an isolated CNS relapse, while other patients were alive and remain in their first complete remission without any neurological sequelae. Further studies will be required to analyze risk factors for CNS complications during chemotherapy not accompanied by irradiation and to establish alternative treatments after the appearance of such CNS complications. (author)

  10. Sarcoidosis presenting as granulomatous myositis in a 16-year-old adolescent.

    Science.gov (United States)

    Orandi, Amir B; Eutsler, Eric; Ferguson, Cole; White, Andrew J; Kitcharoensakkul, Maleewan

    2016-11-10

    Sarcoidosis is a multi-system disease characterized by the presence of non-caseating epithelioid granulomas in affected tissues, including skeletal muscle. These organized collections of immune cells have important pathophysiologic action including cytokine production leading to inflammation as well as enzymatic conversion of cholecalciferol to calcitriol via 1-α hydroxylase. There are limited reports of isolated granulomatous myositis causing hypercalcemia in pediatric patients. Our patient uniquely presented with symptoms from hypercalcemia and renal insufficiency caused by an overwhelming burden of granulomatous myositis in her lower extremities, but was otherwise asymptomatic. A 16 year old Caucasian female presented with protracted symptoms of fatigue, nausea and prominent weight loss with laboratory evidence of hypercalcemia and renal insufficiency. She lacked clinical and physical findings of arthritis, weakness, rash, uveitis, fever, lymphadenopathy or respiratory symptoms. After extensive negative investigations, re-examination yielded subtle soft tissue changes in her lower extremities, with striking MRI findings of extensive myositis without correlative weakness or serum enzyme elevation. Biopsy showed the presence of non-caseating epithelioid granulomas and calcium oxalate crystals. The patient responded well to prednisone and methotrexate but relapsed with weaning of steroids. She reachieved remission with addition of adalimumab. Sarcoidosis should be considered in patients presenting with symptomatic hypercalcemia with no apparent causes and negative routine workup. The absences of decreased muscle strength or elevated muscle enzymes do not preclude the diagnosis of granulomatous myositis.

  11. Comparison of weakness progression in inclusion body myositis during treatment with methotrexate or placebo

    NARCIS (Netherlands)

    Badrising, UA; Maat-Schieman, MLC; Ferrari, MD; Zwinderman, AH; Wessels, JAM; Breedveld, FC; van Doorn, PA; van Engelen, BGM; Hoogendijk, JE; Howeler, CJ; de Jager, AE; Jennekens, FGI; Koehler, PJ; de Visser, M; Viddeleer, A; Verschuuren, JJ; Wintzen, AR

    We investigated whether 5 to 20mg per week oral methotrexate could slow down disease progression in 44 patients with inclusion body myositis in a randomized double-blind placebo-controlled study over 48 weeks. Mean change of quantitative muscle strength testing sum scores was the primary study

  12. Myositis in the head and neck: challenges in diagnosis and management.

    Science.gov (United States)

    Ratansi, R; Fabbroni, G; Kanatas, A

    2017-09-01

    Myositis in the head and neck may present with non-specific symptoms, and radiographically may mimic malignancy. Multidisciplinary management is often essential, and we describe the challenges in an effort to raise awareness of the condition. Copyright © 2017 The British Association of Oral and Maxillofacial Surgeons. Published by Elsevier Ltd. All rights reserved.

  13. Epidemiology of inclusion body myositis in the Netherlands : A nationwide study

    NARCIS (Netherlands)

    Badrising, UA; Maat-Schieman, M; van Duinen, SG; Breedveld, F; van Doorn, P; van Engelen, B; van den Hoogen, F; Hoogendijk, J; Howeler, C; de Jager, A; Jennekens, F; Koehler, P; van der Leeuw, H; de Visser, M; Verschuuren, JJ; Wintzen, AR

    2000-01-01

    Epidemiologic data on inclusion body myositis (IBM) are scarce, and possibly biased, because they are derived from larger neuromuscular centers. The present nationwide collaborative cross-sectional study, which culminated on July 1, 1999, resulted in identification of 76 patients with IBM and the

  14. Radiation-recall myositis presenting as low-back pain (2010: 4b)

    International Nuclear Information System (INIS)

    Heirwegh, Geert; Bruyeer, Eveline; Demaerel, Philippe; Renard, Marleen; Uyttebroeck, Anne

    2010-01-01

    We report on a patient with a history of Ewing sarcoma who underwent surgery and subsequent adjuvant chemotherapy and radiotherapy. He developed low-back pain 6 months after the end of the radiotherapy and during consolidation chemotherapy. Magnetic resonance imaging showed evidence of myositis corresponding to the 'radiation-recall phenomenon', an inflammatory reaction of irradiated tissue. (orig.)

  15. Statin-induced focal myositis of the upper extremity. A report of two cases

    Energy Technology Data Exchange (ETDEWEB)

    Wagner, M., E-mail: wagner.radiologie@herzchirurgie.de [Department of Radiology, Herz- und Gefaessklinik GmbH, Salzburger Leite 1, D-97616 Bad Neustadt an der Saale (Germany); Muehldorfer-Fodor, M.; Prommersberger, K.J. [Department of Handsurgery, Herz- und Gefaessklinik GmbH, Bad Neustadt an der Saale (Germany); Schmitt, R. [Department of Radiology, Herz- und Gefaessklinik GmbH, Salzburger Leite 1, D-97616 Bad Neustadt an der Saale (Germany)

    2011-02-15

    Statins are widely used to lower increased cholesterol levels with the aim to prevent major cardiovascular events. However, they bare the risk of myotoxic side effects. We report on two patients with focal weakness and pain in the upper extremities. In both patients, abnormal MRI signal heights in the muscle groups involved were indicative of the final diagnosis of focal myositis during statin therapy.

  16. Recovery from severe dysphagia in systemic sclerosis - myositis overlap: a case report.

    Science.gov (United States)

    Chinniah, Keith J; Mody, Girish M

    2017-06-01

    Dysphagia is common in inflammatory myopathies and usually responds to corticosteroids. Severe dysphagia requiring feeding by percutaneous endoscopic gastrostomy is associated with significant morbidity and high mortality. A 56-year old African Black woman initially presented with systemic sclerosis (SSC) - myositis overlap and interstitial lung disease. She responded to high dose corticosteroids and cyclophosphamide followed by azathioprine, with improvement in her lung function and regression of the skin changes. Six years later she had a myositis flare with severe dysphagia. Her myositis improved after high doses of corticosteroids, azathioprine and two doses of intravenous immunoglobulin (IVIG). As her dysphagia persisted, she was fed via a percutaneous endoscopic gastrostomy (PEG) tube and given a course of rituximab. Her dysphagia gradually resolved and the PEG tube was removed within two months. She received another dose of rituximab six months later and continued low dose prednisone and azathioprine. Her muscle power improved, weight returned to normal and she remained well 20 months after hospital discharge. Our patient with SSC-myositis overlap and severe dysphagia requiring PEG feeding, improved with high dose corticosteroids, azathioprine, two courses of IVIG and rituximab, and remained in remission 20 months after hospital discharge.

  17. A fatal case of metastatic squamous cell carcinoma in a patient with myositis ossificans traumatica.

    NARCIS (Netherlands)

    Vlasveld, I N; Scheper, H; Stalenhoef, J; Baas, J M; van Dissel, J

    Myositis ossificans traumatica is a rare disease associated with chronic wounds and fistulae. Chronic ulcers, fistulae and wounds can transform into squamous cell carcinoma, the so-called Marjolin's ulcer. We describe a rapid, progressive and fulminant course of a metastatic squamous cell carcinoma

  18. Radiation-recall myositis presenting as low-back pain (2010: 4b)

    Energy Technology Data Exchange (ETDEWEB)

    Heirwegh, Geert [AZ Damiaanziekenhuis, Department of Radiology, Oostende (Belgium); University Hospital K.U. Leuven, Department of Radiology, Leuven (Belgium); Bruyeer, Eveline; Demaerel, Philippe [University Hospital K.U. Leuven, Department of Radiology, Leuven (Belgium); Renard, Marleen; Uyttebroeck, Anne [University Hospital K.U. Leuven, Department of Paediatrics, Leuven (Belgium)

    2010-07-15

    We report on a patient with a history of Ewing sarcoma who underwent surgery and subsequent adjuvant chemotherapy and radiotherapy. He developed low-back pain 6 months after the end of the radiotherapy and during consolidation chemotherapy. Magnetic resonance imaging showed evidence of myositis corresponding to the 'radiation-recall phenomenon', an inflammatory reaction of irradiated tissue. (orig.)

  19. ''Dropped-head'' syndrome due to isolated myositis of neck extensor muscles: MRI findings

    International Nuclear Information System (INIS)

    Gaeta, Michele; Mazziotti, Silvio; Blandino, Alfredo; Toscano, Antonio; Rodolico, Carmelo; Mazzeo, Anna

    2006-01-01

    MRI findings of a patient with dropped-head syndrome due to focal myositis of the neck extensor muscles are presented. MRI showed oedematous changes and marked enhancement of the neck extensor muscles. After therapy MRI demonstrated disappearance of the abnormal findings. (orig.)

  20. Statin-induced focal myositis of the upper extremity. A report of two cases

    International Nuclear Information System (INIS)

    Wagner, M.; Muehldorfer-Fodor, M.; Prommersberger, K.J.; Schmitt, R.

    2011-01-01

    Statins are widely used to lower increased cholesterol levels with the aim to prevent major cardiovascular events. However, they bare the risk of myotoxic side effects. We report on two patients with focal weakness and pain in the upper extremities. In both patients, abnormal MRI signal heights in the muscle groups involved were indicative of the final diagnosis of focal myositis during statin therapy.