Recombinant interferon-α in myelofibrosis reduces bone marrow fibrosis, improves its morphology and is associated with clinical response.

PubMed

Pizzi, Marco; Silver, Richard T; Barel, Ariella; Orazi, Attilio

2015-10-01

Recombinant interferon-α represents a well-established therapeutic option for the treatment of polycythemia vera and essential thrombocythemia. Recent studies also suggest a role for recombinant interferon-α in the treatment of 'early stage' primary myelofibrosis, but few studies have reported the bone marrow changes after clinically successful interferon therapy. The aim of the present study is to detail the histological responses to recombinant interferon-α in primary myelofibrosis and post-polycythemia vera/post-essential thrombocythemia myelofibrosis and to correlate these with clinical findings. We retrospectively studied 12 patients with primary myelofibrosis or post-polycythemia vera/post-essential thrombocythemia myelofibrosis, who had been treated with recombinant interferon-α. Six patients had received other prior cytoreductive therapies. Bone marrow biopsy was assessed for the following histological parameters: (i) cellularity; (ii) myeloid-to-erythroid ratio; (iii) megakaryocyte tight clusters; (iv) megakaryocyte and naked nuclei density; (v) megakaryocytic atypia; (vi) fibrosis; and (vii) the percentage of blasts. Clinical and laboratory data were included: (i) constitutional symptoms; (ii) splenomegaly, if present; and (iii) complete cell blood count. The clinical response to therapy was evaluated using the International Working Group for Myelofibrosis Research and Treatment/European LeukemiaNet response criteria. The Dynamic International Prognostic Scoring System (DIPSS) score was calculated before and after recombinant interferon-α administration. Successful interferon therapy for myelofibrosis was associated with a significant reduction of marrow fibrosis, cellularity, megakaryocyte density and naked nuclei density. The presence of JAK2(V617F) mutation correlated with improved DIPSS score. JAK2(V617F)-negative cases showed worsening of such score or evolution to acute myeloid leukemia. Cytogenetic analysis documented a normal karyotype in all

Cytogenetics, JAK2 and MPL mutations in polycythemia vera, primary myelofibrosis and essential thrombocythemia

PubMed Central

dos Santos, Leonardo Caires; Ribeiro, Juliana Corrêa da Costa; Silva, Neusa Pereira; Cerutti, Janete; da Silva, Maria Regina Regis; Chauffaille, Maria de Lourdes Lopes Ferrari

2011-01-01

Background The detection of molecular and cytogenetic alterations is important for the diagnosis, prognosis and classification of myeloproliferative neoplasms. Objectives The aim of this study was to detect the following mutations: JAK2 V617F, JAK2 exon 12 and MPL W515K/L, besides chromosomal abnormalities. Furthermore, molecular and cytogenetic alterations were correlated with the leukocyte and platelet counts, hemoglobin levels and age in all patients and with the degree of fibrosis in primary myelofibrosis cases. Methods Twenty cases of polycythemia vera, 17 of essential thrombocythemia and 21 of primary myelofibrosis were selected in the Hematology Department of the Universidade Federal de São Paulo (UNIFESP) between February 2008 and December 2009. The JAK2 V617F, JAK2 exon 12 mutations, MPL W515K and MPL W515L mutations were investigated by real-time PCR and direct sequencing. G-band karyotyping and fluorescence in situ hybridization were used to detect chromosomal abnormalities. Results Chromosomal abnormalities were observed only in polycythemia vera (11.8%) and primary myelofibrosis cases (17.6%), without correlation to clinical data. Chromosomal abnormalities were not detected by fluorescence in situ hybridization. The JAK2 V617F mutation was observed in polycythemia vera (90%), primary myelofibrosis (42.8%) and essential thrombocythemia (47%). Patients with JAK2 V617F-negative polycythemia vera had lower platelet and leukocyte counts compared to V617F-positive polycythemia vera (p-value = 0.0001 and p-value = 0.023, respectively). JAK2 V617F-positive and MPL W515L-positive primary myelofibrosis cases had a higher degree of fibrosis than V617F-negative cases (p-value = 0.022). JAK2 exon 12 mutations were not detected in polycythemia vera patients. The MPL W515L mutation was observed in one case of primary myelofibrosis and in one of essential thrombocythemia. The MPL W515K mutation was not found in patients with essential thrombocythemia or primary

Cytogenetics, JAK2 and MPL mutations in polycythemia vera, primary myelofibrosis and essential thrombocythemia.

PubMed

Dos Santos, Leonardo Caires; Ribeiro, Juliana Corrêa da Costa; Silva, Neusa Pereira; Cerutti, Janete; da Silva, Maria Regina Regis; Chauffaille, Maria de Lourdes Lopes Ferrari

2011-01-01

The detection of molecular and cytogenetic alterations is important for the diagnosis, prognosis and classification of myeloproliferative neoplasms. THE AIM OF THIS STUDY WAS TO DETECT THE FOLLOWING MUTATIONS: JAK2 V617F, JAK2 exon 12 and MPL W515K/L, besides chromosomal abnormalities. Furthermore, molecular and cytogenetic alterations were correlated with the leukocyte and platelet counts, hemoglobin levels and age in all patients and with the degree of fibrosis in primary myelofibrosis cases. Twenty cases of polycythemia vera, 17 of essential thrombocythemia and 21 of primary myelofibrosis were selected in the Hematology Department of the Universidade Federal de São Paulo (UNIFESP) between February 2008 and December 2009. The JAK2 V617F, JAK2 exon 12 mutations, MPL W515K and MPL W515L mutations were investigated by real-time PCR and direct sequencing. G-band karyotyping and fluorescence in situ hybridization were used to detect chromosomal abnormalities. Chromosomal abnormalities were observed only in polycythemia vera (11.8%) and primary myelofibrosis cases (17.6%), without correlation to clinical data. Chromosomal abnormalities were not detected by fluorescence in situ hybridization. The JAK2 V617F mutation was observed in polycythemia vera (90%), primary myelofibrosis (42.8%) and essential thrombocythemia (47%). Patients with JAK2 V617F-negative polycythemia vera had lower platelet and leukocyte counts compared to V617F-positive polycythemia vera (p-value = 0.0001 and p-value = 0.023, respectively). JAK2 V617F-positive and MPL W515L-positive primary myelofibrosis cases had a higher degree of fibrosis than V617F-negative cases (p-value = 0.022). JAK2 exon 12 mutations were not detected in polycythemia vera patients. The MPL W515L mutation was observed in one case of primary myelofibrosis and in one of essential thrombocythemia. The MPL W515K mutation was not found in patients with essential thrombocythemia or primary myelofibrosis. The MPL W515L

Clinical, histopathologic, and genetic features of pediatric primary myelofibrosis--an entity different from adults.

PubMed

DeLario, Melissa R; Sheehan, Andrea M; Ataya, Ramona; Bertuch, Alison A; Vega, Carlos; Webb, C Renee; Lopez-Terrada, Dolores; Venkateswaran, Lakshmi

2012-05-01

Primary myelofibrosis is a chronic myeloproliferative neoplasm characterized by cytopenias, leukoerythroblastosis, extramedullary hematopoiesis, hepatosplenomegaly and bone marrow fibrosis. Primary myelofibrosis is a rare disorder in adults; children are even less commonly affected by this entity, with the largest pediatric case series reporting on three patients. Most literature suggests spontaneous resolution of myelofibrosis without long term complications in the majority of affected children. We describe the clinical, pathologic, and molecular characteristics and outcomes of nineteen children with primary myelofibrosis treated in our center from 1984 to 2011. Most patients had cytopenia significant enough to require supportive therapy. No child developed malignant transformation and only five of the 19 children (26%) had spontaneous resolution of disease. Sequence analyses for JAK2V617F and MPLW515L mutations were performed on bone marrow samples from 17 and six patients, respectively, and the results were negative. In conclusion, analysis of this large series of pediatric patients with primary myelofibrosis demonstrates distinct clinical, hematologic, bone marrow, and molecular features from adult patients. Copyright © 2012 Wiley Periodicals, Inc.

Multiple esophageal variceal ruptures with massive ascites due to myelofibrosis-induced portal hypertension

PubMed Central

Tokai, Koichi; Miyatani, Hiroyuki; Yoshida, Yukio; Yamada, Shigeki

2012-01-01

A 75-year old man had been diagnosed at 42 years of age as having polycythemia vera and had been monitored at another hospital. Progression of anemia had been recognized at about age 70, and the patient was thus referred to our center in 2008 where secondary myelofibrosis was diagnosed based on bone marrow biopsy findings. Hematemesis due to rupture of esophageal varices occurred in January and February of 2011. The bleeding was stopped by endoscopic variceal ligation. Furthermore, in March of the same year, hematemesis recurred and the patient was transported to our center. He was in irreversible hemorrhagic shock and died. The autopsy showed severe bone marrow fibrosis with mainly argyrophilic fibers, an observation consistent with myelofibrosis. The liver weighed 1856 g the spleen 1572 g, indicating marked hepatosplenomegaly. The liver and spleen both showed extramedullary hemopoiesis. Myelofibrosis is often complicated by portal hypertension and is occasionally associated with gastrointestinal hemorrhage due to esophageal varices. A patient diagnosed as having myelofibrosis needs to be screened for esophageal/gastric varices. Myelofibrosis has a poor prognosis. Therefore, it is necessary to carefully decide the therapeutic strategy in consideration of the patient’s concomitant conditions, treatment invasiveness and quality of life. PMID:22851873

JAK2 Exon 12 Mutations in Polycythemia Vera and Idiopathic Erythrocytosis

PubMed Central

Scott, Linda M.; Tong, Wei; Levine, Ross L.; Scott, Mike A.; Beer, Philip A.; Stratton, Michael R.; Futreal, P. Andrew; Erber, Wendy N.; McMullin, Mary Frances; Harrison, Claire N.; Warren, Alan J.; Gilliland, D. Gary; Lodish, Harvey F.; Green, Anthony R.

2010-01-01

BACKGROUND The V617F mutation, which causes the substitution of phenylalanine for valine at position 617 of the Janus kinase (JAK) 2 gene (JAK2), is often present in patients with polycythemia vera, essential thrombocythemia, and idiopathic myelofibrosis. However, the molecular basis of these myeloproliferative disorders in patients without the V617F mutation is unclear. METHODS We searched for new mutations in members of the JAK and signal transducer and activator of transcription (STAT) gene families in patients with V617F-negative polycythemia vera or idiopathic erythrocytosis. The mutations were characterized biochemically and in a murine model of bone marrow transplantation. RESULTS We identified four somatic gain-of-function mutations affecting JAK2 exon 12 in 10 V617F-negative patients. Those with a JAK2 exon 12 mutation presented with an isolated erythrocytosis and distinctive bone marrow morphology, and several also had reduced serum erythropoietin levels. Erythroid colonies could be grown from their blood samples in the absence of exogenous erythropoietin. All such erythroid colonies were heterozygous for the mutation, whereas colonies homozygous for the mutation occur in most patients with V617F-positive polycythemia vera. BaF3 cells expressing the murine erythropoietin receptor and also carrying exon 12 mutations could proliferate without added interleukin-3. They also exhibited increased phosphorylation of JAK2 and extracellular regulated kinase 1 and 2, as compared with cells transduced by wild-type JAK2 or V617F JAK2. Three of the exon 12 mutations included a substitution of leucine for lysine at position 539 of JAK2. This mutation resulted in a myeloproliferative phenotype, including erythrocytosis, in a murine model of retroviral bone marrow transplantation. CONCLUSIONS JAK2 exon 12 mutations define a distinctive myeloproliferative syndrome that affects patients who currently receive a diagnosis of polycythemia vera or idiopathic erythrocytosis

Acute myelofibrosis and acute lymphoblastic leukemia in an elderly patient with previously treated multiple myeloma.

PubMed

Gonzalez, Maria M; Kidd, Laura; Quesada, Jorge; Nguyen, Nghia; Chen, Lei

2013-01-01

Multiple myeloma (MM) is a plasma cell neoplasm involving the bone marrow with organ damage and/or a monoclonal protein (M-spike in the serum and/or urine). This neoplasm typically affects adults over the age of 50. Acute lymphoblastic leukemia (ALL) is a hematological disorder involving at least 20% lymphoblasts in the bone marrow of the B-cell lineage. Acute lymphoblastic leukemia most commonly affects young children with 75% of cases occurring in children less than 6 years old. This case report describes a patient diagnosed with MM in 2000 who achieved a complete remission in 2006 after chemotherapy. Four years later, the patient presented with sudden pancytopenia. A bone marrow biopsy was obtained revealing a B lymphoblastic leukemia in an extensively fibrotic marrow without evidence of MM. A diagnosis of ALL with myelofibrosis is rare in the adult population, acute myelofibrosis (AMF) is more commonly associated with myeloproliferative disorders, and the development of acute leukemia in myeloma is rare. To the best of our knowledge, the presence of MM, ALL, and myelofibrosis in one patient has never been reported.

Busulfan, Fludarabine, Donor Stem Cell Transplant, and Cyclophosphamide in Treating Patients With Multiple Myeloma or Myelofibrosis

ClinicalTrials.gov

2018-01-31

Anemia; ASXL1 Gene Mutation; EZH2 Gene Mutation; IDH1 Gene Mutation; IDH2 Gene Mutation; Plasma Cell Myeloma; Primary Myelofibrosis; Recurrent Plasma Cell Myeloma; Secondary Myelofibrosis; Thrombocytopenia

A multinational, open-label, phase 2 study of ruxolitinib in Asian patients with myelofibrosis: Japanese subset analysis.

PubMed

Oritani, Kenji; Okamoto, Shinichiro; Tauchi, Tetsuzo; Saito, Shigeki; Ohishi, Kohshi; Handa, Hiroshi; Takenaka, Katsuto; Gopalakrishna, Prashanth; Amagasaki, Taro; Ito, Kazuo; Akashi, Koichi

2015-03-01

Ruxolitinib is a potent Janus kinase (JAK) 1/JAK2 inhibitor that has demonstrated rapid and durable improvements in splenomegaly and symptoms and a survival benefit in 2 phase 3 trials in patients with myelofibrosis. Ruxolitinib was well tolerated and effectively reduced splenomegaly and symptom burden in Asian patients with myelofibrosis in the Asian multinational, phase 2 Study A2202. We present a subset analysis of Japanese patients (n = 30) in Study A2202. At data cutoff, 22 patients were ongoing; 8 discontinued, mainly due to adverse events (n = 4). At week 24, 33 % of patients achieved ≥35 % reduction from baseline in spleen volume; 56.0 % achieved ≥50 % reduction from baseline in total symptom score, as measured by the 7-day Myelofibrosis Symptom Assessment Form v2.0. The most common adverse events were anemia (63 %), thrombocytopenia (40 %), nasopharyngitis (37 %), decreased platelet counts (30 %), and diarrhea (30 %). Dose reductions or interruptions due to hemoglobin decreases were more frequent in Japanese patients; no loss of efficacy and no discontinuations due to hematologic abnormalities were observed. Ruxolitinib was well tolerated in Japanese patients and provided substantial reductions in splenomegaly and myelofibrosis-related symptoms similar to those observed in the overall Asian population and phase 3 COMFORT studies.

Insulinoma presenting as idiopathic hypersomnia.

PubMed

Maestri, Michelangelo; Monzani, Fabio; Bonanni, Enrica; Di Coscio, Elisa; Cignoni, Fabio; Dardano, Angela; Iudice, Alfonso; Murri, Luigi

2010-06-01

We report the case of a 32-year-old woman with a history of increased sleep need and difficulty waking up; the diagnosis of idiopathic hypersomnia was hypothesized. During ambulatory polysomnography (PSG), the patient presented an episode characterized by loss of consciousness and jerking of the four limbs. A video-PSG monitoring was performed and the patient showed unresponsiveness and drowsiness at 7 a.m. During the episode, EEG showed theta-delta diffuse activity, and blood glucose level was 32 mg dl(-1). The diagnosis of insulinoma was then assumed; CT scan showed a hypodense mass into the pancreatic tail, and a partial pancreasectomy was performed. The described symptoms disappeared, and 5 years later the findings of a complete clinical and neurophysiological examination were negative. The clinical picture of insulinoma presenting with paroxysmal disorders has been previously described; however, whereas hypersomnia is uncommon, in the current case it represents the main symptom. Clinicians should keep in mind that neuroglycopenia should be considered in the differential diagnosis of patients with hypersomnia, particularly if the clinical scenario does not conform to standard criteria.

How we treat myelofibrosis after failure of JAK inhibitors.

PubMed

Pardanani, Animesh; Tefferi, Ayalew

2018-06-04

The introduction of JAK inhibitors, leading to regulatory approval of ruxolitinib, represents a major therapeutic advance in myelofibrosis. Most patients experience reduction in splenomegaly and improved quality of life from symptom improvement. It is a paradox however that, despite inhibition of signaling downstream of disease-related driver mutations, JAK inhibitor treatment is not associated with consistent molecular or pathologic responses in myelofibrosis. Furthermore, there are important limitations to JAK inhibitor therapy including development of dose-limiting cytopenias and/or non-hematological toxicities such as neuropathy or opportunistic infections. Over half the patients discontinue treatment within three years of starting treatment. While data are sparse, clinical outcome after JAK inhibitor 'failure' is likely poor; consequently, it is important to understand patterns of failure to select appropriate salvage treatment(s). An algorithmic approach, particularly one that incorporates cytogenetics/molecular data, is most helpful in selecting stem cell transplant candidates. Treatment of transplant-ineligible patients relies on a problem-based approach that includes use of investigational drugs, or consideration of splenectomy or radiotherapy. Data from early-phase ruxolitinib combination studies, despite promising pre-clinical data, has not shown clear benefit over monotherapy thus far. Development of effective treatment strategies for myelofibrosis patients failing JAK inhibitors remains a major unmet need. Copyright © 2018 American Society of Hematology.

Unusual Presentation of Chronic Idiopathic Thrombocytopenic Purpura

PubMed Central

Madhusudhanan, M.; Yusuff, Ali M.

2008-01-01

A snakebite victim presented with normal clotting profile and a low platelet count. A routine CBC in his past records (February 2004) showed a platelet count of 20,000/microlitre, but the patient was not symptomatic. We report a case of chronic idiopathic thrombocytopenic purpura, incidentally found in a patient presenting with snakebite. The patient also has acquired primary testicular failure. After the diagnosis the patient was on regular follow up. He caused trauma to the right external auditory canal and perforated his tympanic membrane. His left tympanic membrane was also scarred and retracted. Establishing a diagnosis of an ITP early is important so that the patient can take precaution to avoid undue trauma and monitor proper follow up. PMID:22567212

Myelofibrosis associated with prominent periosteal bone apposition. Report of two cases.

PubMed

Yu, J S; Greenway, G; Resnick, D

1994-01-01

Myelofibrosis is a myeloproliferative disorder that is characterized by splenomegaly and bone marrow replacement by fibrous tissue. The predominant radiographic feature is osteosclerosis; however, in rare instances, periosteal bone apposition or periostitis is apparent in the metaphysis of the distal femura and proximal tibiae. It has been suggested that periostitis, when associated with fever and bone pain, is indicative of more aggressive disease. We report this unusual radiographic finding and its similar appearance to hypertrophic osteoarthropathy in two patients with myelofibrosis. In our patients, the presence of periosteal bone apposition did not correlate with increased disease aggressiveness.

PEG-rHuMGDF ameliorates thrombocytopenia in carboplatin-treated rats without inducing myelofibrosis.

PubMed

Ide, Y; Harada, K; Imai, A; Yanagida, M

1999-08-01

We examined the effects of pegylated recombinant human megakaryocyte growth and development factor (PEG-rHuMGDF) on carboplatin-induced thrombocytopenia in rats. The focus was on whether myelofibrosis is associated with the PEG-rHuMGDF treatment in this chemotherapy model. After a single injection of carboplatin, rats received subcutaneous PEG-rHuMGDF at pharmacologic doses (1,3, or 30 micrograms/kg) or a vehicle daily for 7 days. PEG-rHuMGDF at more than 3 micrograms/kg ameliorated the thrombocytopenia at day 10. Histologically, no myelofibrosis was detected in the rats treated with PEG-rHuMGDF or vehicle. Subsequently, PEG-rHuMGDF at a suprapharmacologic dose (100 micrograms/kg) was subcutaneously administered to normal and to carboplatin-treated rats daily for 7 days. Histological analysis revealed that the treatment with PEG-rHuMGDF induced myelofibrosis in the normal rats but not in the carboplatin-treated rats. Additionally, the transforming growth factor-beta 1 (TGF-beta 1) levels in the extracellular fluid and the whole extract of the bone marrow were increased to a much lesser degree in the carboplatin-treated rats compared to the normal rats. These findings suggest that PEG-rHuMGDF is effective for carboplatin-induced thrombocytopenia. Proper control of platelet counts and TGF-beta 1 levels is essential so that myelofibrosis is not induced in clinical use.

Impact of Molecular Genetics on Outcome in Myelofibrosis Patients after Allogeneic Stem Cell Transplantation.

PubMed

Kröger, Nicolaus; Panagiota, Victoria; Badbaran, Anita; Zabelina, Tatjana; Triviai, Ioanna; Araujo Cruz, Michelle Maria; Shahswar, Rabia; Ayuk, Francis; Gehlhaar, Marten; Wolschke, Christine; Bollin, Robin; Walter, Carolin; Dugas, Martin; Wiehlmann, Lutz; Lehmann, Ulrich; Koenecke, Christian; Chaturvedi, Anuhar; Alchalby, Haefaa; Stadler, Michael; Eder, Matthias; Christopeit, Max; Göhring, Gudrun; Koenigsmann, Michael; Schlegelberger, Brigitte; Kreipe, Hans-Heinrich; Ganser, Arnold; Stocking, Carol; Fehse, Boris; Thol, Felicitas; Heuser, Michael

2017-07-01

Molecular genetics may influence outcome for patients with myelofibrosis. To determine the impact of molecular genetics on outcome after allogeneic stem cell transplantation, we screened 169 patients with primary myelofibrosis (n = 110), post-essential thrombocythemia/polycythemia vera myelofibrosis (n = 46), and myelofibrosis in transformation (n = 13) for mutations in 16 frequently mutated genes. The most frequent mutation was JAK2V617F (n = 101), followed by ASXL1 (n = 49), calreticulin (n = 34), SRSF2 (n = 16), TET2 (n = 10), U2AF1 (n = 11), EZH2 (n = 7), MPL (n = 6), IDH2 (n = 5), IDH1 (n = 4), and CBL (n = 1). The cumulative incidence of nonrelapse mortality (NRM) at 1 year was 21% and of relapse at 5 years 25%. The 5-year rates progression-free (PFS) and overall survival (OS) were and 56%, respectively. In a multivariate analysis CALR mutation was an independent factor for lower NRM (HR, .415; P = .05), improved PFS (HR, .393; P = .01), and OS (HR, .448; P = .03). ASXL1 and IDH2 mutations were independent risk factors for lower PFS (HR, 1.53 [P = .008], and HR, 5.451 [P = .002], respectively), whereas no impact was observed for "triple negative" patients. Molecular genetics, especially CALR, IDH2, and ASXL1 mutations, may thus be useful to predict outcome independently from known clinical risk factors after allogeneic stem cell transplantation for myelofibrosis. Copyright © 2017 The American Society for Blood and Marrow Transplantation. Published by Elsevier Inc. All rights reserved.

ON012380: A Non-ATP Competitive Inhibitor of BCR-ABL for the Therapy of Imatinib-Resistant CMLs

DTIC Science & Technology

2007-05-01

polycythemia vera (PV) as well as in some cases of essential thrombocythemia (ET) and chronic idiopathic myelofibrosis (CIMF), all of which are...in polycythemia vera, essential thrombocythemia, and myeloid metaplasia with myelofibrosis. Cancer Cell. 7(4):387-97. 20 Meydan N, Grunberger T

Neutropenia caused by hairy cell leukemia in a patient with myelofibrosis secondary to polycythemia vera: a case report.

PubMed

Habberstad, Andreas Hanssønn; Tran, Hoa Thi Tuyet; Randen, Ulla; Spetalen, Signe; Dybedal, Ingunn; Tjønnfjord, Geir E; Dahm, Anders Erik Astrup

2018-04-24

Polycythemia vera is a myeloproliferative disease that sometimes evolves to myelofibrosis, causing splenomegaly and neutropenia. In this case report, we describe a patient with polycythemia vera and unexplained neutropenia who later turned out to also have hairy cell leukemia. A middle-aged Caucasian man with polycythemia vera presented to our hospital with chronic mouth ulcers. Later he developed leukopenia and pancytopenia. Bone marrow biopsies showed fibrosis. Further morphological analyses of bone marrow and blood smears revealed probable transformation into acute myeloid leukemia. However, there were also cells indicating hairy cell leukemia. Morphological and immunohistochemical analyses later confirmed the presence of hairy cell leukemia in biopsies that had been present for 3 years. Treatment with cladribine temporarily reversed the patient's neutropenia. Hairy cell leukemia may mimic development to myelofibrosis in patients with polycythemia vera.

High Frequency of Copy-Neutral Loss of Heterozygosity in Patients with Myelofibrosis.

PubMed

Rego de Paula Junior, Milton; Nonino, Alexandre; Minuncio Nascimento, Juliana; Bonadio, Raphael S; Pic-Taylor, Aline; de Oliveira, Silviene F; Wellerson Pereira, Rinaldo; do Couto Mascarenhas, Cintia; Forte Mazzeu, Juliana

2018-01-01

Myelofibrosis is the rarest and most severe type of Philadelphia-negative classical myeloproliferative neoplasms. Although mutually exclusive driver mutations in JAK2, MPL, or CALR that activate JAK-STAT pathway have been related to the pathogenesis of the disease, chromosome abnormalities have also been associated with the phenotype and prognosis of the disease. Here, we report the use of a chromosomal microarray platform consisting of both oligo and SNP probes to improve the detection of chromosome abnormalities in patients with myelofibrosis. Sixteen patients with myelofibrosis were tested, and the results were compared to karyotype analysis. Driver mutations in JAK2, MPL, or CALR were investigated by PCR and MLPA. Conventional cytogenetics revealed chromosome abnormalities in 3 out of 16 cases (18.7%), while chromosomal microarray analysis detected copy-number variations (CNV) or copy-neutral loss of heterozygosity (CN-LOH) alterations in 11 out of 16 (68.7%) patients. These included 43 CN-LOH, 14 deletions, 1 trisomy, and 1 duplication. Ten patients showed multiple chromosomal abnormalities, varying from 2 to 13 CNVs or CN-LOHs. Mutational status for JAK2, CALR, and MPL by MLPA revealed a total of 3/16 (18.7%) patients positive for the JAK2 V617F mutation, 9 with CALR deletion or insertion and 1 positive for MPL mutation. Considering that most of the CNVs identified were smaller than the karyotype resolution and the high frequency of CN-LOHs in our study, we propose that chromosomal microarray platforms that combine oligos and SNP should be used as a first-tier genetic test in patients with myelofibrosis. © 2018 S. Karger AG, Basel.

[Myelofibrosis in a benzene-exposed cleaning worker].

PubMed

Bausà, Roser; Navarro, Lydia; Cortès-Franch, Imma

Long-term exposure to benzene has been associated with several blood malignancies, including aplastic anemia, myeloproliferative neoplasms, and different leukemias. We present a case of primary myelofibrosis in a 59-year-old woman who worked as a cleaner at a car dealership and automobile mechanic shop. For 25 years, she used gasoline as a degreaser and solvent to clean engine parts, floors and work desks on a daily basis. She was referred by her primary care provider to the Occupational Health Unit of Barcelona to assess whether her illness was work-related. Review of her job history and working conditions revealed chronic exposure to benzene in the absence of adequate preventive measures. An association between benzene exposure and myeloproliferative disease was established, suspicious for an occupational disease. Copyright belongs to the Societat Catalana de Salut Laboral.

The Myelofibrosis Symptom Assessment Form (MFSAF): An Evidence-based Brief Inventory to Measure Quality of Life and Symptomatic Response to Treatment in Myelofibrosis

PubMed Central

Mesa, Ruben A.; Schwager, Susan; Radia, Deepti; Cheville, Andrea; Hussein, Kebede; Niblack, Joyce; Pardanani, Animesh D.; Steensma, David P.; Litzow, Mark R.; Rivera, Candido E.; Camoriano, John; Verstovsek, Srdan; Sloan, Jeffrey; Harrison, Claire; Kantarjian, Hagop; Tefferi, Ayalew

2015-01-01

Quality of life (QoL) in patients with myelofibrosis (MF) is severely compromised by severe constitutional symptoms (i.e. fatigue, night sweats, fever, weight loss), pruritus, and symptoms from frequently massive hepatosplenomegaly. Given that no current instrument of patient reported outcomes (PRO) exists that covers the unique spectrum of symptomatology seen in MF patients, we sought to develop a new PRO instrument for MF patients for use in therapeutic clinical trials. Utilizing data from an international internet based survey of 458 patients with MF we created a 20 item instrument (MFSAF: Myelofibrosis Symptom Assessment Form) which measures the symptoms reported by >10% of MF patients, and includes a measure of QoL. We subsequently validated the MFSAF in a prospective trial of MF patients involving patient and provider feedback, as well as comparison to other validated instruments used in cancer patients. The MFSAF results were highly correlated with other instruments, judged comprehensive and understandable by patients, and should be considered for evaluation of MF symptoms in therapeutic trials. PMID:19250674

Expanding the SHOC2 mutation associated phenotype of Noonan syndrome with loose anagen hair: structural brain anomalies and myelofibrosis.

PubMed

Gripp, Karen W; Zand, Dina J; Demmer, Laurie; Anderson, Carol E; Dobyns, William B; Zackai, Elaine H; Denenberg, Elizabeth; Jenny, Kim; Stabley, Deborah L; Sol-Church, Katia

2013-10-01

Noonan syndrome is a heterogenous rasopathy typically presenting with short stature, characteristic facial features, cardiac abnormalities including pulmonic valve stenosis, ASD and hypertrophic cardiomyopathy (HCM), cryptorchidism, ectodermal abnormalities, and learning differences. The phenotype is variable, and limited genotype phenotype correlation exists with SOS1 mutations often associated with normal cognition and stature, RAF1 mutations entailing a high HCM risk, and certain PTPN11 mutations predisposing to juvenile myelomonocytic leukemia. The recently identified SHOC2 mutation (p.Ser2Gly) causes Noonan syndrome with loose anagen hair. We report five patients with this mutation. All had skin hyperpigmentation, sparse light colored hair, increased fine wrinkles, ligamentous laxity, developmental delay, and 4/4 had a structural cardiac anomaly. Hypotonia and macrocephaly occurred in 4/5 (80%); 3/5 (60%) had polyhydramnios, increased birth weight or required use of a feeding tube. Distinctive brain abnormalities included relative megalencephaly and enlarged subarachnoid spaces suggestive of benign external hydrocephalus, and a relatively small posterior fossa as indicated by a vertical tentorium. The combination of a large brain with a small posterior fossa likely resulted in the high rate of cerebellar tonsillar ectopia (3/4; 75%). Periventricular nodular heterotopia was seen in one patient with a thick and dysplastic corpus callosum. We report on the first hematologic neoplasm, myelofibrosis, in a 2-year-old patient with SHOC2 mutation. Myelofibrosis is exceedingly rare in children and young adults. The absence of a somatic JAK2 mutation, seen in the majority of patients with myelofibrosis, is noteworthy as it suggests that germline or somatic SHOC2 mutations are causally involved in myelofibrosis. Copyright © 2013 Wiley Periodicals, Inc.

Efficacy and Safety of Ruxolitinib in the Treatment of Patients with Myelofibrosis

PubMed Central

Yi, Cecilia Arana; Tam, Constantine S.; Verstovsek, Srdan

2016-01-01

The JAK 1 and JAK2 inhibitor ruxolitinib has approved indications in myelofibrosis, a BCR-ABL1-negative myeloproliferative neoplasm associated with progressive bone marrow fibrosis and shortened survival. In Phase III clinical studies, ruxolitinib provided rapid and durable improvement of myelofibrosis-related splenomegaly and symptoms irrespective of mutation status, and was associated with a survival advantage compared with placebo or best available therapy. Because of dose-dependent cytopenias, blood count monitoring and dose titration are important to optimize therapy. Specific precautions apply to the treatment of patients with or at risk of serious infections. Discontinuation of ruxolitinib generally leads to symptom return within 1 week. Ruxolitinib also is approved for treatment of patients with polycythemia vera who have had an inadequate response to or are intolerant of hydroxyurea. PMID:25757677

The Small Molecule Inhibitor G6 Significantly Reduces Bone Marrow Fibrosis and the Mutant Burden in a Mouse Model of Jak2-Mediated Myelofibrosis

PubMed Central

Kirabo, Annet; Park, Sung O.; Wamsley, Heather L.; Gali, Meghanath; Baskin, Rebekah; Reinhard, Mary K.; Zhao, Zhizhuang J.; Bisht, Kirpal S.; Keserű, György M.; Cogle, Christopher R.; Sayeski, Peter P.

2013-01-01

Philadelphia chromosome–negative myeloproliferative neoplasms, including polycythemia vera, essential thrombocytosis, and myelofibrosis, are disorders characterized by abnormal hematopoiesis. Among these myeloproliferative neoplasms, myelofibrosis has the most unfavorable prognosis. Furthermore, currently available therapies for myelofibrosis have little to no efficacy in the bone marrow and hence, are palliative. We recently developed a Janus kinase 2 (Jak2) small molecule inhibitor called G6 and found that it exhibits marked efficacy in a xenograft model of Jak2-V617F–mediated hyperplasia and a transgenic mouse model of Jak2-V617F–mediated polycythemia vera/essential thrombocytosis. However, its efficacy in Jak2-mediated myelofibrosis has not previously been examined. Here, we hypothesized that G6 would be efficacious in Jak2-V617F–mediated myelofibrosis. To test this, mice expressing the human Jak2-V617F cDNA under the control of the vav promoter were administered G6 or vehicle control solution, and efficacy was determined by measuring parameters within the peripheral blood, liver, spleen, and bone marrow. We found that G6 significantly reduced extramedullary hematopoiesis in the liver and splenomegaly. In the bone marrow, G6 significantly reduced pathogenic Jak/STAT signaling by 53%, megakaryocytic hyperplasia by 70%, and the Jak2 mutant burden by 68%. Furthermore, G6 significantly improved the myeloid to erythroid ratio and significantly reversed the myelofibrosis. Collectively, these results indicate that G6 is efficacious in Jak2-V617F–mediated myelofibrosis, and given its bone marrow efficacy, it may alter the natural history of this disease. PMID:22796437

Aggressive B-cell lymphomas in patients with myelofibrosis receiving JAK1/2 inhibitor therapy.

PubMed

Porpaczy, Edit; Tripolt, Sabrina; Hoelbl-Kovacic, Andrea; Gisslinger, Bettina; Bago-Horvath, Zsuzsanna; Casanova-Hevia, Emilio; Clappier, Emmanuelle; Decker, Thomas; Fajmann, Sabine; Fux, Daniela A; Greiner, Georg; Gueltekin, Sinan; Heller, Gerwin; Herkner, Harald; Hoermann, Gregor; Kiladjian, Jean-Jacques; Kolbe, Thomas; Kornauth, Christoph; Krauth, Maria-Theresa; Kralovics, Robert; Muellauer, Leonhard; Mueller, Mathias; Prchal-Murphy, Michaela; Putz, Eva Maria; Raffoux, Emmanuel; Schiefer, Ana-Iris; Schmetterer, Klaus; Schneckenleithner, Christine; Simonitsch-Klupp, Ingrid; Skrabs, Cathrin; Sperr, Wolfgang R; Staber, Philipp Bernhard; Strobl, Birgit; Valent, Peter; Jaeger, Ulrich; Gisslinger, Heinz; Sexl, Veronika

2018-06-14

Inhibition of Janus-kinase 1/2 (JAK1/2) is a mainstay to treat myeloproliferative neoplasms (MPN). Sporadic observations reported the co-incidence of B-cell non-Hodgkin lymphomas during treatment of MPN with JAK1/2 inhibitors. We assessed 626 MPN patients including 69 with myelofibrosis receiving JAK1/2 inhibitors for lymphoma development. B-cell lymphomas evolved in 4/69 patients (5.8%) upon JAK1/2 inhibition compared to 2/557 (0.36%) with conventional treatment (16-fold increased risk). A similar 15-fold increase was observed in an independent cohort of 929 MPN patients. Considering primary myelofibrosis only (N=216), 3 lymphomas were observed in 31 inhibitor-treated patients (9.7%) versus 1/185 controls (0.54%). Lymphomas were of aggressive B-cell type, extra-nodal or leukemic with high MYC expression in the absence of JAK2 V617F or other MPN-associated mutations. Median time from initiation of inhibitor therapy to lymphoma diagnosis was 25 months. Clonal immunoglobulin gene rearrangements were already detected in the bone marrow during myelofibrosis in 16.3% of patients. Lymphomas occurring during JAK1/2 inhibitor treatment were preceded by a pre-existing B-cell clone in all 3 patients tested. Sequencing verified clonal identity in 2 patients. The effects of JAK1/2 inhibition were mirrored in Stat1 -/- mice: 16/24 mice developed a spontaneous myeloid hyperplasia with the concomitant presence of aberrant B-cells. Transplantations of bone marrow from diseased mice unmasked the outgrowth of a malignant B-cell clone evolving into aggressive B-cell leukemia-lymphoma. We conclude that JAK/STAT1 pathway inhibition in myelofibrosis is associated with an elevated frequency of aggressive B-cell lymphomas. Detection of a pre-existing B-cell clone may identify individuals at risk. Copyright © 2018 American Society of Hematology.

Idiopathic Ophthalmodynia and Idiopathic Rhinalgia: A Prospective Series of 16 New Cases.

PubMed

Pareja, Juan A; Montojo, Teresa; Guerrero, Ángel L; Álvarez, Mónica; Porta-Etessam, Jesús; Cuadrado, María L

2015-01-01

Idiopathic ophthalmodynia and idiopathic rhinalgia were described a few years ago. These conditions seem specific pain syndromes with a distinctive location in the eye or in the nose. We aimed to present a new prospective series in order to verify the consistency of these syndromes. We performed a descriptive study of all patients referred to our regional neurologic clinics from 2010 to 2014 because of facial pain exclusively felt in the eye or in the nose fulfilling the proposed diagnostic criteria for idiopathic ophthalmodynia and idiopathic rhinalgia. There were 9 patients with idiopathic ophthalmodynia and 7 patients with idiopathic rhinalgia, with a clear female preponderance, and a mean age at onset in the fifth decade. The pain was usually moderate and the temporal pattern was generally chronic. Only one patient reported accompaniments (hypersensitivity to the light and to the flow of air in the symptomatic eye). Preventive treatment with amitriptyline, pregabalin, or gabapentin was partially or totally effective. The clinical features of this new series parallels those of the original description, thus indicating that both idiopathic ophthalmodynia and idiopathic rhinalgia have clear-cut clinical pictures with excellent consistency both inter- and intra-individually. © 2015 American Headache Society.

Prognostic features and clinical presentation of acute idiopathic enterocolitis in horses

PubMed Central

Staempfli, Henry R.; Townsend, Hugh G.G.; Prescott, John F.

1991-01-01

Clinical and hematological changes observed on presentation of 47 horses referred to the Ontario Veterinary College with acute idiopathic colitis were analyzed for their prognostic features. Cases of acute enterocolitis were characterized by fever, dehydration, abnormalities of serum electrolyte concentrations, azotemia, hypoalbuminemia, and increased serum concentrations of muscle enzymes. Severely dehydrated horses were seven times more likely to die or be euthanized than those that were not dehydrated. Other factors associated with failure to survive included the following: increased hematocrit, increased number of band neutrophils, increased serum creatinine and urea concentrations, and decreased blood pH and increasingly negative base excess. The results of multivariate variable analysis (stepwise logistic regression) suggested that, among the variables tested, base excess was the best predictor of death or survival. Twenty of 47 horses died or were euthanized. Reasons for death or euthanasia included: severe disseminated intravascular coagulation, unresponsiveness of severe metabolic acidosis and hypoproteinemia to treatments, and severity of colonic lesions on exploratory laparotomy. Of the surviving horses, three developed chronic laminitis (two were destroyed) and five developed jugular vein thrombosis. Fourteen of 16 horses for which subsequent histories were available returned to normal function. Early recognition of the disease, combined with early and aggressive correction of dehydration and of acid-base imbalance, may be important determinants of survival in horses with acute idiopathic colitis. PMID:17423769

Bone morphogenetic protein antagonist gene NOG is involved in myeloproliferative disease associated with myelofibrosis.

PubMed

Andrieux, Joris; Roche-Lestienne, Catherine; Geffroy, Sandrine; Desterke, Christophe; Grardel, Nathalie; Plantier, Isabelle; Selleslag, Dominik; Demory, Jean-Loup; Laï, Jean-Luc; Leleu, Xavier; Le Bousse-Kerdiles, Caroline; Vandenberghe, Peter

2007-10-01

In a case with secondary myelofibrosis occurring after essential thrombocythemia, cytogenetic analysis revealed an isolated translocation t(X;17)(q27;q22) in all cells. We found that a bacterial artificial chromosome (BAC) encompassing the breakpoint on chromosome 17 long arm contained only one gene, NOG. We therefore investigated the occurrence of this rare breakpoint in myeloproliferative disorders (MPDs). We identified three more patients with a 17q abnormality in MPDs: myelofibrosis with myeloid metaplasia (MMM); chronic myeloid leukemia positive for t(9;22)(q34;q11) with additional t(4;17)(p15;q22) at diagnosis; and myelofibrosis complicating polycythemia vera. All three cases exhibited a split of BACs containing NOG. The protein encoded by NOG, noggin, acts as an antagonist to bone morphogenetic secreted protein 2 and 4 (BMP2 and BMP4). A comparative analysis of gene expression on Agilent 22K oligonucleotide microarrays in purified CD34+ cells from the blood of MMM patients showed significant downregulation of BMPR2, BMPR1B, BMP2, and BMP8; upregulation of BMP3 and BMP10; and a trend to lower expression of NOG. Thus, given that expression and release of BMPs are important in the induction of osteosclerosis and angiogenic activity, the observed BMP deregulations could be triggered by potential NOG genetic alterations in the four cases here described, and may contribute to the myelofibrotic process characterized by bone marrow stromal reaction including collagen fibrosis, osteosclerosis, and angiogenesis.

The role of the extracellular matrix in primary myelofibrosis

PubMed Central

Leiva, O; Ng, S K; Chitalia, S; Balduini, A; Matsuura, S; Ravid, K

2017-01-01

Primary myelofibrosis (PMF) is a myeloproliferative neoplasm that arises from clonal proliferation of hematopoietic stem cells and leads to progressive bone marrow (BM) fibrosis. While cellular mutations involved in the development of PMF have been heavily investigated, noteworthy is the important role the extracellular matrix (ECM) plays in the progression of BM fibrosis. This review surveys ECM proteins contributors of PMF, and highlights how better understanding of the control of the ECM within the BM niche may lead to combined therapeutic options in PMF. PMID:28157219

Atypical Headbanging Presentation of Idiopathic Sleep Related Rhythmic Movement Disorder: Three Cases with Video-Polysomnographic Documentation

PubMed Central

Yeh, Shih-Bin; Schenck, Carlos H.

2012-01-01

Study Objectives: To describe three cases of sleep related, idiopathic rhythmic movement disorder (RMD) with atypical headbanging, consisting of head punching and head slapping. Methods: Three consecutive patients (2 males [11 and 13 years old) and one female [22 years old]) presented with atypical headbanging of 6 years, 7 years, and 17 years duration. In 2 cases, typical rhythmic headbanging (with use of the head) shifted after 3-4 years to atypical headbanging, with frontal head punching that was quasi-rhythmic. In one case, atypical headbanging (head-slapping) was the initial and only RMD. There was no injury from the headbanging. Prenatal, perinatal, developmental, behavioral-psychological, medical-neurological, and family histories were negative. Clinical evaluations and nocturnal video-polysomnography with seizure montage were performed on all patients. Results: Atypical headbanging was documented in all 3 cases; episodes always emerged late in the sleep cycle: from N2 sleep in 11 episodes, from REM sleep in 4 episodes, and from N1 sleep in 1 episode. Epileptiform activity was not detected. Clonazepam therapy was substantially effective in 1 case but not effective in 2 cases. Conclusions: These 3 cases of idiopathic atypical headbanging expand the literature on this RMD variant, as to our knowledge only one previously documented case has been reported. Citation: Yeh SB; Schenck CH. Atypical headbanging presentation of idiopathic sleep related rhythmic movement disorder: three cases with video-polysomnographic documentation. J Clin Sleep Med 2012;8(4):403-411. PMID:22893771

Regenerative nodular hyperplasia, portal vein thrombosis and primary myelofibrosis: an unusual triple association.

PubMed

Sández Montagut, Víctor Manuel; Giráldez Gallego, Álvaro; Ontanilla Clavijo, Guilermo

2018-03-01

We report a case of a regenerative nodular hyperplasia with a portal vein cavernomatosis with a subsequent progression to symptomatic, occlusive thrombosis of the superior mesenteric vein. A thorough investigation resulted in a final diagnosis of primary myelofibrosis associated with the V617F mutation in the JAK2 gene.

F-18-Fluorodeoxyglucose Positron Emission Tomography/Computed Tomography Appearance of Extramedullary Hematopoesis in a Case of Primary Myelofibrosis

PubMed Central

Mukherjee, Anirban; Bal, Chandrasekhar; Tripathi, Madhavi; Das, Chandan Jyoti; Shamim, Shamim Ahmed

2017-01-01

A 44-year-old female with known primary myelofibrosis presented with shortness of breath. High Resolution Computed Tomography thorax revealed large heterogeneously enhancing extraparenchymal soft tissue density mass involving bilateral lung fields. F-18-fluorodeoxyglucose (FDG) positron emission tomography/computed tomography revealed mildly FDG avid soft tissue density mass with specks of calcification involving bilateral lung fields, liver, and spleen. Subsequent histopathologic evaluation from the right lung mass was suggestive of extramedullary hematopoesis. PMID:28533647

Nephrogenic diabetes insipidus with idiopathic Fanconi's syndrome in a child who presented as vitamin D resistant rickets.

PubMed

Patra, Soumya; Nadri, Gulnaz; Chowdhary, Harish; Pemde, Harish K; Singh, Varinder; Chandra, Jagdish

2011-10-01

Fanconi's syndrome is a complex of multiple tubular dysfunctions of proximal tubular cells occurring alone or in association with a variety of inherited (primary) or acquired (secondary) disorders. It is characterized by aminoaciduria, normoglycaemic glycosuria, tubular proteinuria without hematuria, metabolic acidosis without anion gap and excessive urinary excretion of phosphorous, calcium, uric acid, bicarbonate, sodium, potassium, and magnesium. Whereas diabetes insipidus is a disease of collecting tubules and child mainly presents with dehydration and hypernatremia. Though all the cases published till date were secondary to drugs, myeloma, hematological disorders, etc., we are reporting the first case of idiopathic Fanconi's syndrome along with nephrogenic diabetes insipidus in a child who presented to us as resistant rickets. Medline search did not reveal any case of nephrogenic diabetes insipidus associated with idiopathic Fanconi syndrome. We hypothesized that the NDI may be due to of severe hypokalemia induced tubular dysfunction.

Inability of immunomorphometric assessment of angiogenesis to distinguish primary versus secondary myelofibrosis.

PubMed

Sharma, Prashant; Pati, Hara Prasad; Mishra, Pravas Chandra; Dinda, Amit Kumar; Gupta, Ruchika; Sharma, Alok; Jacob, Tony George

2011-08-01

To explore the utility of bone marrow (BM) angiogenesis in differentiating primary myelofibrosis (PMF) from secondary myelofibrosis (MF). CD34 immunostaining was performed on BM biopsies from 21 PMFs, 23 non-PMF myeloproliferative neoplasms (MPN) with associated MF, 20 secondary MF samples, and 10 nonfibrotic controls. Microvessel density (MVD) and microvessel surface area (MSA), along with blood and BM findings were compared between the groups. The post-MPN MF cases included chronic myeloid leukemia-MF and polycythemia vera-MF. Etiologies of secondary MF were metastatic carcinomas, non-MPN hematologic malignancies, tuberculosis, autoimmune MF, and osteopetrosis. Megakaryocytic clustering was the most frequent and intrasinusoidal hematopoiesis the most specific feature of PMF. Higher reticulin grade, collagenization, and osteomyelosclerosis were commoner in PMF. MVD and MSA were significantly increased in fibrotic marrows regardless of etiology. Although mean MVD as well as MSA were highest in PMF, extensive overlaps among groups and marked heterogeneity in the secondary MF group rendered them of limited utility in the differential diagnosis. Enhanced angiogenesis is not entirely specific for PMF. Overlaps with secondary MF limits its differential diagnostic utility. Pathogenetically, our findings suggest that enhanced angiogenesis is a secondary paraneoplastic stromal response shared by various unrelated conditions.

Adult idiopathic hypertrophic pyloric stenosis - a common presentation with an uncommon diagnosis

PubMed Central

Mubarik, Ateeq; Muddassir, Salman; Haq, Furqan

2018-01-01

ABSTRACT Background and Objectives: Adult Idiopathic hypertrophic pyloric stenosis (AIHPS) is a rare but well-defined entity in adults with only 200-300 cases reported so far in the literature.We describe a case of AIHPS and the relevant literature review. Methods and Results: The patient presented with acute onset upper abdominal pain associated with nausea, vomiting, foul-smelling black tarry stools, and anorexia. On the Esophagogastroduodenoscopy (EGD), pylorus demonstrated a unique “cervix sign.” The patient had multiple endoscopic dilations with minimal relief. She then underwent a distal partial gastrectomy with a Billroth 1 gastroduodenostomy with considerable  improvement in her symptoms on follow up. Conclusion: Adult Idiopathic hypertrophic pyloric stenosis (AIHPS) is a rare disease which is also underreported due to a difficulty in diagnosis. The most common symptoms of AIHPS are postprandial nausea, vomiting, early satiety, and epigastric pain as seen in our patient. Endoscopy usually shows ?Cervix sign? a unique sign showing a fixed, markedly narrowed pylorus with a smooth border. Multiple treatments have been proposed for AIHPS, including endoscopic dilation, pyloromyotomy with or without pyloroplasty, gastrectomy with a Billroth 1 gastroduodenostomy. Currently, there is no evidence of one surgical technique being superior to another. Further research needs to be done on AIHPS before one technique can be standardized as the standard of care. PMID:29686790

Transfusion Independency and Histological Remission in a Patient with Advanced Primary Myelofibrosis Receiving Iron-Chelation Therapy with Deferasirox.

PubMed

Groepper, Stefanie; Schlue, Jerome; Haferlach, Claudia; Giagounidis, Aristoteles

2016-01-01

Iron overload is a common problem in patients with primary myelofibrosis and anemia due to transfusion dependency. This results in organ damage and toxic effects on hematopoietic cells in the bone marrow. At present, iron chelation therapy is not recommended in patients with myeloproliferative syndromes. We describe a very interesting development in a patient with primary myelofibrosis receiving iron chelation. Transfusion independency and a nearly complete histological remission of the underlying disease occurred within a few weeks of therapy. In addition, a change in molecular genetic findings was observed. Initially a JAK2 and a U2AF1 mutation were detected in the core biopsy. During and after therapy the U2AF1 mutation progressed, whereas the JAK2 mutation could no longer be verified. The improvement in hematopoiesis might results from reduction of oxidative stress on hematopoietic progenitor cells or other unclear deferasirox-mediated effects, whereas the reason for the change in molecular genetic findings is unclear. It appears that deferasirox might have a modulating effect on JAK2-kinase mutations. However, further investigation of selective molecular suppression properties of deferasirox are warranted. © 2016 S. Karger GmbH, Freiburg.

Idiopathic ophthalmodynia and idiopathic rhinalgia: two topographic facial pain syndromes.

PubMed

Pareja, Juan A; Cuadrado, María L; Porta-Etessam, Jesús; Fernández-de-las-Peñas, César; Gili, Pablo; Caminero, Ana B; Cebrián, José L

2010-09-01

To describe 2 topographic facial pain conditions with the pain clearly localized in the eye (idiopathic ophthalmodynia) or in the nose (idiopathic rhinalgia), and to propose their distinction from persistent idiopathic facial pain. Persistent idiopathic facial pain, burning mouth syndrome, atypical odontalgia, and facial arthromyalgia are idiopathic facial pain syndromes that have been separated according to topographical criteria. Still, some other facial pain syndromes might have been veiled under the broad term of persistent idiopathic facial pain. Through a 10-year period we have studied all patients referred to our neurological clinic because of facial pain of unknown etiology that might deviate from all well-characterized facial pain syndromes. In a group of patients we have identified 2 consistent clinical pictures with pain precisely located either in the eye (n=11) or in the nose (n=7). Clinical features resembled those of other localized idiopathic facial syndromes, the key differences relying on the topographic distribution of the pain. Both idiopathic ophthalmodynia and idiopathic rhinalgia seem specific pain syndromes with a distinctive location, and may deserve a nosologic status just as other focal pain syndromes of the face. Whether all such focal syndromes are topographic variants of persistent idiopathic facial pain or independent disorders remains a controversial issue.

Idiopathic ventricular tachycardia and fibrillation.

PubMed

Belhassen, B; Viskin, S

1993-06-01

Important data have recently been added to our understanding of sustained ventricular tachyarrhythmias occurring in the absence of demonstrable heart disease. Idiopathic ventricular tachycardia (VT) is usually of monomorphic configuration and can be classified according to its site of origin as either right monomorphic (70% of all idiopathic VTs) or left monomorphic VT. Several physiopathological types of monomorphic VT can be presently individualized, according to their mode of presentation, their relationship to adrenergic stress, or their response to various drugs. The long-term prognosis is usually good. Idiopathic polymorphic VT is a much rarer type of arrhythmia with a less favorable prognosis. Idiopathic ventricular fibrillation may represent an underestimated cause of sudden cardiac death in ostensibly healty patients. A high incidence of inducibility of sustained polymorphic VT with programmed ventricular stimulation has been found by our group, but not by others. Long-term prognosis on Class IA antiarrhythmic medications that are highly effective at electrophysiologic study appears excellent.

Idiopathic Inflammatory Myopathies

PubMed Central

Dimachkie, Mazen M.; Barohn, Richard J.

2012-01-01

The idiopathic inflammatory myopathies are a group of rare disorders including polymyositis (PM), dermatomyositis (DM), and autoimmune necrotizing myopathies (NMs). The idiopathic inflammatory myopathies share many similarities. They present acutely, subacutely, or chronically with marked proximal and symmetric muscle weakness, except for associated distal and asymmetric weakness in inclusion body myositis. The idiopathic inflammatory myopathies also share a variable degree of creatine kinase (CK) elevation and a nonspecifically abnormal electromyogram demonstrating an irritative myopathy. The muscle pathology demonstrates inflammatory exudates of variable distribution within the muscle fascicle. Despite these similarities, the idiopathic inflammatory myopathies are a heterogeneous group. The overlap syndrome (OS) refers to the association of PM, DM, or NM with connective tissue disease, such as scleroderma or systemic lupus erythematosus. In addition to elevated antinuclear antibodies (ANA), patients with OS may be weaker in the proximal arms than the legs mimicking the pattern seen in some muscular dystrophies. In this review, we focus on DM, PM, and NM and examine current and promising therapies. PMID:23117947

MPLW515L mutation in acute megakaryoblastic leukaemia.

PubMed

Hussein, K; Bock, O; Theophile, K; Schulz-Bischof, K; Porwit, A; Schlue, J; Jonigk, D; Kreipe, H

2009-05-01

The thrombopoietin receptor gene (MPL) is expressed in megakaryocytes and exhibits the gain of function point mutation W515K/L in approximately 5% of patients with primary myelofibrosis/idiopathic myelofibrosis (PMF) representing one subtype of the chronic myeloproliferative disorders (myeloproliferative neoplasm). A series of primary and secondary acute myeloid leukaemias (AML) with megakaryoblastic phenotype and myelofibrosis unrelated to PMF (n=12) was analysed for the MPL(W515K/L) mutation by pyrosequencing. In three cases (25%), MPL(W515L) was found and in two of these a combination with trisomy 21 or the Philadelphia chromosome occurred. None of the secondary AML cases evolving from pre-existing PMF showed MPL(W515K/L) (n=4). We conclude that MPL(W515L) occurs in a considerable proportion of acute megakaryoblastic leukaemias with myelofibrosis unrelated to PMF.

Predictive factors for anemia response to erythropoiesis-stimulating agents in myelofibrosis.

PubMed

Hernández-Boluda, Juan-Carlos; Correa, Juan-Gonzalo; García-Delgado, Regina; Martínez-López, Joaquín; Alvarez-Larrán, Alberto; Fox, María-Laura; García-Gutiérrez, Valentín; Pérez-Encinas, Manuel; Ferrer-Marín, Francisca; Mata-Vázquez, María-Isabel; Raya, José-María; Estrada, Natalia; García, Silvia; Kerguelen, Ana; Durán, María-Antonia; Albors, Manuel; Cervantes, Francisco

2017-04-01

Erythropoiesis-stimulating agents (ESAs) are commonly used to treat the anemia of myelofibrosis (MF), but information on the predictors of response is limited. Results of ESA therapy were analyzed in 163 MF patients with severe anemia, most of whom had inadequate erythropoietin (EPO) levels (<125 U/L) at treatment start. According to the revised criteria of the International Working Group for Myelofibrosis Treatment and Research, anemia response was achieved in 86 patients (53%). Median response duration was 19.3 months. In multivariate analysis, baseline factors associated with a higher response rate were female sex (P=.007), leukocyte count ≥10×10 9 /L (P=.033), and serum ferritin <200 ng/mL (P=.002). Patients with 2 or 3 of the above features had a significantly higher response rate than the remainder (73% vs 28%, respectively; P<.001). Over the 373 patient-years of follow-up on ESA treatment, nine patients developed thrombotic complications (six arterial, three venous), accounting for 2.41 events per 100 patient-years. Survival time from ESA start was longer in anemia responders than in non-responders (P=.011). Besides the already established predictive value of EPO levels, these data can help to identify which MF patients are more likely to benefit from ESA treatment. © 2016 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

Idiopathic hypersomnia.

PubMed

Billiard, Michel; Sonka, Karel

2016-10-01

Idiopathic hypersomnia continues to evolve from the concept of "sleep drunkenness" introduced by Bedrich Roth in Prague in 1956 and the description of idiopathic hypersomnia with two forms, polysymptomatic and monosymptomatic, by the same Bedrich Roth in 1976. The diagnostic criteria of idiopathic hypersomnia have varied with the successive revisions of the International classifications of sleep disorders, including the recent 3rd edition. No epidemiological studies have been conducted so far. Disease onset occurs most often during adolescence or young adulthood. A familial background is often present but rigorous studies are still lacking. The key manifestation is hypersomnolence. It is often accompanied by sleep of long duration and debilitating sleep inertia. Polysomnography (PSG) followed by a multiple sleep latency test (MSLT) is mandatory, as well as a 24 h PSG or a 2-wk actigraphy in association with a sleep log to ensure a total 24-h sleep time longer than or equal to 66O minutes, when the mean sleep latency on the MSLT is longer than 8 min. Yet, MSLT is neither sensitive nor specific and the polysomnographic diagnostic criteria require continuous readjustment and biologic markers are still lacking. Idiopathic hypersomnia is most often a chronic condition though spontaneous remission may occur. The condition is disabling, sometimes even more so than narcolepsy type 1 or 2. Based on neurochemical, genetic and immunological analyses as well as on exploration of the homeostatic and circadian processes of sleep, various pathophysiological hypotheses have been proposed. Differential diagnosis involves a number of diseases and it is not yet clear whether idiopathic hypersomnia and narcolepsy type 2 are not the same condition. Until now, the treatment of idiopathic hypersomnia has mirrored that of the sleepiness of narcolepsy type 1 or 2. The first randomized, double-blind, placebo-controlled trials of modafinil have just been published, as well as a double

Mesenchymal Cell Reprogramming in Experimental MPLW515L Mouse Model of Myelofibrosis.

PubMed

Han, Ying; Yue, Lanzhu; Wei, Max; Ren, Xiubao; Shao, Zonghong; Zhang, Ling; Levine, Ross L; Epling-Burnette, Pearlie K

2017-01-01

Myelofibrosis is an indicator of poor prognosis in myeloproliferative neoplasms (MPNs), but the precise mechanism(s) contributing to extracellular matrix remodeling and collagen deposition in the bone marrow (BM) niche remains unanswered. In this study, we isolated mesenchymal stromal cells (MSCs) from mice transplanted with wild-type thrombopoietin receptor (MPLWT) and MPLW515L retroviral-transduced bone marrow. Using MSCs derived from MPLW515-transplant recipients, excessive collagen deposition was maintained in the absence of the virus and neoplastic hematopoietic cells suggested that the MSCs were reprogrammed in vivo. TGFβ production by malignant megakaryocytes plays a definitive role promoting myelofibrosis in MPNs. However, TGFβ was equally expressed by MSCs derived from MPLWT and MPLW515L expressing mice and the addition of neutralizing anti-TGFβ antibody only partially reduced collagen secretion in vitro. Interestingly, profibrotic MSCs displayed increased levels of pSmad3 and pSTAT3 suggesting that inflammatory mediators cooperating with the TGFβ-receptor signaling may maintain the aberrant phenotype ex vivo. FGFb is a known suppressor of TGFβ signaling. Reduced collagen deposition by FGFb-treated MSCs derived from MPLW515L mice suggests that the activating pathway is vulnerable to this suppressive mediator. Therefore, our findings have implications for the future investigation of therapies to reverse fibrosis in MPNs.

Mesenchymal Cell Reprogramming in Experimental MPLW515L Mouse Model of Myelofibrosis

PubMed Central

Wei, Max; Ren, Xiubao; Shao, Zonghong; Zhang, Ling; Levine, Ross L.; Epling-Burnette, Pearlie K.

2017-01-01

Myelofibrosis is an indicator of poor prognosis in myeloproliferative neoplasms (MPNs), but the precise mechanism(s) contributing to extracellular matrix remodeling and collagen deposition in the bone marrow (BM) niche remains unanswered. In this study, we isolated mesenchymal stromal cells (MSCs) from mice transplanted with wild-type thrombopoietin receptor (MPLWT) and MPLW515L retroviral-transduced bone marrow. Using MSCs derived from MPLW515-transplant recipients, excessive collagen deposition was maintained in the absence of the virus and neoplastic hematopoietic cells suggested that the MSCs were reprogrammed in vivo. TGFβ production by malignant megakaryocytes plays a definitive role promoting myelofibrosis in MPNs. However, TGFβ was equally expressed by MSCs derived from MPLWT and MPLW515L expressing mice and the addition of neutralizing anti-TGFβ antibody only partially reduced collagen secretion in vitro. Interestingly, profibrotic MSCs displayed increased levels of pSmad3 and pSTAT3 suggesting that inflammatory mediators cooperating with the TGFβ-receptor signaling may maintain the aberrant phenotype ex vivo. FGFb is a known suppressor of TGFβ signaling. Reduced collagen deposition by FGFb-treated MSCs derived from MPLW515L mice suggests that the activating pathway is vulnerable to this suppressive mediator. Therefore, our findings have implications for the future investigation of therapies to reverse fibrosis in MPNs. PMID:28135282

Phase II Evaluation of IPI-926, an Oral Hedgehog Inhibitor, in Patients with Myelofibrosis

PubMed Central

Sasaki, Koji; Gotlib, Jason R.; Mesa, Ruben A.; Newberry, Kate J.; Ravandi, Farhad; Cortes, Jorge E.; Kelly, Patrick; Kutok, Jeffery L.; Kantarjian, Hagop M.; Verstovsek, Srdan

2016-01-01

The clinical safety and efficacy of IPI-926 was evaluated in 14 patients with myelofibrosis in a phase II study. Patients received 160-mg IPI-926 orally in continuous 28-day cycles. The median treatment duration was 5.1 months, and all patients had discontinued treatment by 7.5 months. Nine patients discontinued due to lack of response as determined by the treating physician, two after developing acute leukemia and one due to disease progression/loss of response. Twelve patients had slight reductions in spleen size (less than 50% from baseline), but symptoms did not improve consistently. One patient achieved transfusion independence lasting 5 months. Reductions in GLI1 mRNA and protein levels, JAK2V617F allele burden, degree of fibrosis, or cytokine levels were observed in some patients, but were not significant when evaluated for the cohort. Low-grade gastrointestinal/liver abnormalities were the most common toxicities. The results did not support continued evaluation of IPI-926 as a monotherapy in myelofibrosis. PMID:25641433

The role of transforming growth factor-beta in PEG-rHuMGDF-induced reversible myelofibrosis in rats.

PubMed

Yanagida, M; Ide, Y; Imai, A; Toriyama, M; Aoki, T; Harada, K; Izumi, H; Uzumaki, H; Kusaka, M; Tokiwa, T

1997-12-01

Pegylated recombinant human megakaryocyte growth and development factor (PEG-rHuMGDF) injected at a suprapharmacologic dose (100 microg/kg) daily for 5 d in normal rats caused marked increases in marrow megakaryocytes and platelet counts at 6-8 d followed by gradual decreases to control levels at 10-20 d. Interestingly, in addition to the expected thrombopoiesis, PEG-rHuMGDF was associated with myelofibrosis with a predominance of reticulin fibres at day 10 followed by complete normalization by day 20. At 6-8 d, the levels of transforming growth factor-beta1 (TGF-beta1) in the extracellular fluid of the marrow, the platelet poor plasma, and the platelet extract were increased 23-, 7- and 2-fold, respectively. The elevated levels of TGF-beta1 were gradually reduced to baseline levels at 13-20 d in accordance with the normalization of myelofibrosis and thrombopoiesis. An ultrastructural analysis showed that large fragments of megakaryocytes were deposited in the marrow parenchyma of PEG-rHuMGDF-treated rats at day 6. PEG-rHuMGDF administration at pharmacologic doses (1 and 10 microg/kg) did not induce the deposition of reticulin fibres in the marrow. These findings suggest that TGF-beta1 leaked from megakaryocytes is involved in the development of the PEG-rHuMGDF-induced myelofibrosis and that this is a reversible process related to the regulation of the excess production of platelets.

Sustained Erythroid Response in a Patient with Myelofibrosis Receiving Concomitant Treatment with Ruxolitinib and Deferasirox.

PubMed

Piro, Eugenio; Lentini, Maria; Levato, Luciano; Russo, Antonio; Molica, Stefano

2018-04-25

Iron overload (IOL) due to transfusion-dependent anemia is a serious adverse effect in patients with myelofibrosis (MF). Recent studies have shown that the oral iron chelator deferasirox may prevent multiple organ damage due to IOL in MF. However, it is not clear whether deferasirox may contribute to revert transfusion-dependent anemia. Here, we present a patient with transfusion-dependent intermediate-2 MF according to the International Prognostic Scoring System treated with ruxolitinib in combination with deferasirox. In addition to a reduced serum ferritin level, the patient required less blood transfusions, ultimately resulting in long-lasting transfusion-free survival. © 2018 S. Karger AG, Basel.

Idiopathic granulomatous mastitis: a heterogeneous disease with variable clinical presentation.

PubMed

Baslaim, Muna M; Khayat, Hind A; Al-Amoudi, Shefaa A

2007-08-01

Idiopathic granulomatous mastitis (IGM) is a rare benign inflammatory breast disease that presents with variable local manifestations. We describe here the different management protocols based on the clinical presentation of these patients. A retrospective review of 20 histopathologic confirmed cases of IGM seen over a period of 10 years was performed. The median age was 34 years (age range: 21-45 years). All were married, parous with history of breast feeding. Ill-defined mass mimicking carcinoma was the commonest presentation (70%); however, with the presence of signs of inflammation like pain (55%), redness (40%), and peau d'orange (40%), an inflammatory process appeared more likely. Axillary lymph node enlargement was infrequently seen (40%). Radiologic findings (mammography and ultrasound) were nonspecific. Histopathology showed the characteristic lobular distribution of granulomatous inflammation in all cases. Surgically, 7 patients had abscess drainage with open biopsy, and 7 patients had lumpectomy. Six patients with diffuse breast involvement were diagnosed by core needle biopsy only. Microbial cultures showed no growth. Antibiotics were given empirically when signs of inflammation where present. Two patients needed further abscess drainage followed by persistent sinus excision 3-6 weeks later. The median follow-up was 24 months (range: 15-42 months). Seventeen patients (85%) were recurrence-free, and 3 patients (15%) were lost to follow-up. Management of IGM cases needs to be tailored according to the clinical presentation. Precise radiologic and pathologic data interpretation by a multidisciplinary breast team will facilitate diagnosis and minimize unnecessary intervention.

Idiopathic anaphylaxis.

PubMed

Fenny, Nana; Grammer, Leslie C

2015-05-01

Idiopathic anaphylaxis is a diagnosis of exclusion after other causes have been thoroughly evaluated and excluded. The pathogenesis of idiopathic anaphylaxis remains uncertain, although increased numbers of activated lymphocytes and circulating histamine-releasing factors have been implicated. Signs and symptoms of patients diagnosed with idiopathic anaphylaxis are indistinguishable from the manifestations of other forms of anaphylaxis. Treatment regimens are implemented based on the frequency and severity of patient symptoms and generally include the use of epinephrine autoinjectors, antihistamines, and steroids. The prognosis of idiopathic anaphylaxis is generally favorable with well-established treatment regimens and effective patient education. Copyright © 2015 Elsevier Inc. All rights reserved.

A clinical-molecular prognostic model to predict survival in patients with post polycythemia vera and post essential thrombocythemia myelofibrosis.

PubMed

Passamonti, F; Giorgino, T; Mora, B; Guglielmelli, P; Rumi, E; Maffioli, M; Rambaldi, A; Caramella, M; Komrokji, R; Gotlib, J; Kiladjian, J J; Cervantes, F; Devos, T; Palandri, F; De Stefano, V; Ruggeri, M; Silver, R T; Benevolo, G; Albano, F; Caramazza, D; Merli, M; Pietra, D; Casalone, R; Rotunno, G; Barbui, T; Cazzola, M; Vannucchi, A M

2017-12-01

Polycythemia vera (PV) and essential thrombocythemia (ET) are myeloproliferative neoplasms with variable risk of evolution into post-PV and post-ET myelofibrosis, from now on referred to as secondary myelofibrosis (SMF). No specific tools have been defined for risk stratification in SMF. To develop a prognostic model for predicting survival, we studied 685 JAK2, CALR, and MPL annotated patients with SMF. Median survival of the whole cohort was 9.3 years (95% CI: 8-not reached-NR-). Through penalized Cox regressions we identified negative predictors of survival and according to beta risk coefficients we assigned 2 points to hemoglobin level <11 g/dl, to circulating blasts ⩾3%, and to CALR-unmutated genotype, 1 point to platelet count <150 × 10 9 /l and to constitutional symptoms, and 0.15 points to any year of age. Myelofibrosis Secondary to PV and ET-Prognostic Model (MYSEC-PM) allocated SMF patients into four risk categories with different survival (P<0.0001): low (median survival NR; 133 patients), intermediate-1 (9.3 years, 95% CI: 8.1-NR; 245 patients), intermediate-2 (4.4 years, 95% CI: 3.2-7.9; 126 patients), and high risk (2 years, 95% CI: 1.7-3.9; 75 patients). Finally, we found that the MYSEC-PM represents the most appropriate tool for SMF decision-making to be used in clinical and trial settings.

Indirect and non-medical economic burden, quality-of-life, and disabilities of the myelofibrosis disease in Spain.

PubMed

Gimenez, Emmanuel; Besses, Carles; Boque, Concepcion; Velez, Patricia; Kerguelen, Ana; Cervantes, Francisco; Ferrer-Marin, Francisca; Perez-Encinas, Manuel; Rodriguez, Mercedes; Gonzalez, Juan Diego; Calzada, Reyes; Hernandez-Boluda, Juan Carlos

2014-06-01

Myelofibrosis is a non-frequent chronic myeloproliferative Philadelphia-negative chromosome neoplasm. It is a heavy incapacitating orphan disease and associated with high morbidity and mortality. In this context, indirect and non-medical costs are expected to be high. The main objective of this project is to estimate the economic burden of this disease in Spain. Thirty-three patients with a diagnosis of myelofibrosis for at least 1 year participated in a questionnaire in three Spanish centers. The study consisted of analyzing in various aspects the cost and impact of the disease; indeed, daily life time limitations with a need of informal care, symtomatology. Additionally, information concerning the clinical management of the disease was collected through a focus group of eight experts. The mean age was 65 years. 15 of 33 patients were at their productive stage. Six had difficulties at work and eight have received informal care. Bone and muscular pain were the main symptoms of patients (72%). The estimated global indirect and non-medical costs of the disease were 86,315€ per patient (20% working and 80% informal care), which reached 104,153€ at productive stage patients (45%) and 168,459€ for more symptomatic patients. The economic burden of indirect and non-medical costs of myelofibrosis are important (15,142€/annual) as a result, and should be considered in economic evaluation, as well as in preventive plans for patients and caregivers, despite the fact that studies with larger numbers of patients should be done.

Comparison of monocyte gene expression among patients with neurocysticercosis-associated epilepsy, Idiopathic Epilepsy and idiopathic headaches in India.

PubMed

Prabhakaran, Vasudevan; Drevets, Douglas A; Ramajayam, Govindan; Manoj, Josephine J; Anderson, Michael P; Hanas, Jay S; Rajshekhar, Vedantam; Oommen, Anna; Carabin, Hélène

2017-06-01

Neurocysticercosis (NCC), a neglected tropical disease, inflicts substantial health and economic costs on people living in endemic areas such as India. Nevertheless, accurate diagnosis using brain imaging remains poorly accessible and too costly in endemic countries. The goal of this study was to test if blood monocyte gene expression could distinguish patients with NCC-associated epilepsy, from NCC-negative imaging lesion-free patients presenting with idiopathic epilepsy or idiopathic headaches. Patients aged 18 to 51 were recruited from the Department of Neurological Sciences, Christian Medical College and Hospital, Vellore, India, between January 2013 and October 2014. mRNA from CD14+ blood monocytes was isolated from 76 patients with NCC, 10 Recovered NCC (RNCC), 29 idiopathic epilepsy and 17 idiopathic headaches patients. A preliminary microarray analysis was performed on six NCC, six idiopathic epilepsy and four idiopathic headaches patients to identify genes differentially expressed in NCC-associated epilepsy compared with other groups. This analysis identified 1411 upregulated and 733 downregulated genes in patients with NCC compared to Idiopathic Epilepsy. Fifteen genes up-regulated in NCC patients compared with other groups were selected based on possible relevance to NCC, and analyzed by qPCR in all patients' samples. Differential gene expression among patients was assessed using linear regression models. qPCR analysis of 15 selected genes showed generally higher gene expression among NCC patients, followed by RNCC, idiopathic headaches and Idiopathic Epilepsy. Gene expression was also generally higher among NCC patients with single cyst granulomas, followed by mixed lesions and single calcifications. Expression of certain genes in blood monocytes can distinguish patients with NCC-related epilepsy from patients with active Idiopathic Epilepsy and idiopathic headaches. These findings are significant because they may lead to the development of new tools to

Treatment and management of myelofibrosis in the era of JAK inhibitors

PubMed Central

Keohane, Clodagh; Radia, Deepti H; Harrison, Claire N

2013-01-01

Myelofibrosis (MF) can present as a primary disorder or evolve from polycythemia vera (PV) or essential thrombocythemia (ET) to post-PV MF or post-ET MF, respectively. MF is characterized by bone marrow fibrosis, splenomegaly, leukoerythroblastosis, extramedullary hematopoiesis, and a collection of debilitating symptoms. Until recently, the therapeutic options for patients with MF consisted of allogeneic hematopoietic stem cell transplant (alloHSCT), the use of cytoreductive agents (ie, hydroxyurea), splenectomy and splenic irradiation for treatment of splenomegaly, and management of anemia with transfusions, erythropoiesis-stimulating agents (ESAs), androgens, and immunomodulatory agents. However, with increased understanding of the pathogenesis of MF resulting from dysregulated Janus kinase (JAK) signaling, new targeted JAK inhibitor therapies, such as ruxolitinib, are now available. The purpose of this article is to review the clinical features of MF, discuss the use and future of JAK inhibitors, reassess when and how to use conventional MF treatments in the context of JAK inhibitors, and provide a perspective on the future of MF treatment. PMID:23990704

Treatment and management of myelofibrosis in the era of JAK inhibitors.

PubMed

Keohane, Clodagh; Radia, Deepti H; Harrison, Claire N

2013-01-01

Myelofibrosis (MF) can present as a primary disorder or evolve from polycythemia vera (PV) or essential thrombocythemia (ET) to post-PV MF or post-ET MF, respectively. MF is characterized by bone marrow fibrosis, splenomegaly, leukoerythroblastosis, extramedullary hematopoiesis, and a collection of debilitating symptoms. Until recently, the therapeutic options for patients with MF consisted of allogeneic hematopoietic stem cell transplant (alloHSCT), the use of cytoreductive agents (ie, hydroxyurea), splenectomy and splenic irradiation for treatment of splenomegaly, and management of anemia with transfusions, erythropoiesis-stimulating agents (ESAs), androgens, and immunomodulatory agents. However, with increased understanding of the pathogenesis of MF resulting from dysregulated Janus kinase (JAK) signaling, new targeted JAK inhibitor therapies, such as ruxolitinib, are now available. The purpose of this article is to review the clinical features of MF, discuss the use and future of JAK inhibitors, reassess when and how to use conventional MF treatments in the context of JAK inhibitors, and provide a perspective on the future of MF treatment.

A Review of Ruxolitinib for the Treatment of Myelofibrosis: A Critique of the Evidence.

PubMed

Wade, Ros; Hodgson, Robert; Biswas, Mousumi; Harden, Melissa; Woolacott, Nerys

2017-02-01

As part of the National Institute for Health and Care Excellence's (NICE) Single Technology Appraisal (STA) process, ruxolitinib was assessed to determine the clinical and cost effectiveness of its use in the treatment of disease-related splenomegaly or symptoms in adults with myelofibrosis. Ruxolitinib had previously been assessed as part of the STA process and was not recommended in NICE guidance issued in June 2013 (TA289). A review of TA289 was commissioned following the availability of new longer-term survival data; a price discount patient access scheme (PAS) was also introduced. The Centre for Reviews and Dissemination (CRD) and Centre for Health Economics (CHE) Technology Appraisal Group at the University of York was commissioned to act as the independent Evidence Review Group (ERG). This article provides a summary of the manufacturer or sponsor of the technology's (referred to as the company) submission, the ERG review and the resulting NICE guidance issued in March 2016. The main clinical effectiveness data were derived from two good-quality multicentre randomised controlled trials (RCTs): COMFORT-II compared ruxolitinib with best available therapy (BAT) and COMFORT-I compared ruxolitinib with placebo. Both RCTs demonstrated a statistically significant reduction in splenomegaly and its associated symptoms in intermediate-2 and high-risk myelofibrosis patients. Overall survival was statistically significantly improved with ruxolitinib compared with BAT at 3.5 years of follow-up in the COMFORT-II trial (hazard ratio 0.58, 95 % CI 0.36-0.93). Grade 3-4 adverse events were more frequent in the ruxolitinib group than in the BAT group; 42 % compared with 25 %. Evidence relating to patients with lower-risk disease or low platelet counts (50-100 × 10 9 /L) was less robust. The company's economic model was well-presented and had an appropriate model structure. The base-case incremental cost-effectiveness ratio (ICER) was estimated to be around £45,000 per

Splanchnic vein thrombosis as a first manifestation of Primary myelofibrosis

PubMed

Campos-Cabrera, Gregorio; Campos-Cabrera, Virginia; Campos-Cabrera, Salvador; Campos-Villagómez, José-Luis; Romero-González, Alejandra

2017-01-01

Myeloproliferative neoplasms are chronic disorders of clonal hematopoietic stem cells, characterized by an overproduction of functional granulocytes, red blood cells and / or platelets, and one of the major complications is the occurrence of venous and arterial thrombotic problems caused by increased platelet aggregation and thrombin generation. In this study 11 cases of primary myelofibrosis (PM) were evaluated and 2 debuted with splanchnic venous thrombosis (SVT); so after seeing the results of this study and of world literature, it is suggested that in patients with SVT, diagnostic methods for PM like the JAK2V617F mutation should be included. Copyright: © 2017 SecretarÍa de Salud

Acute Idiopathic Scrotal Edema: Systematic Literature Review.

PubMed

Santi, Maristella; Lava, Sebastiano A G; Simonetti, Giacomo D; Bianchetti, Mario G; Milani, Gregorio P

2018-06-01

 Existing information on acute idiopathic scrotal edema relies on small case series and textbooks.  We searched reports with no date limits on acute idiopathic scrotal edema.  Thirty-seven studies were included. Sixteen case series addressed the prevalence of acute idiopathic scrotal edema among males with acute scrotum: among 3,403 cases, the diagnosis of acute idiopathic scrotal edema was made in 413 cases (12%). Twenty-four reports addressed history, findings, management, and course of acute idiopathic scrotal edema in 311 patients. The patients mostly ranged in age from 5 to 8 years, presented with acute scrotal redness and swelling, associated or not with mild pain. Ninety percent or more of the cases developed in patients without atopic diathesis and were not preceded by inguinoscrotal surgery, acute febrile illnesses, or trauma. They were afebrile; in good general condition; and presented without pruritus, nausea or vomiting, or abdominal pain. The lesions were bilateral in two-thirds and unilateral in one-third of the cases. The condition resolved spontaneously within 2 to 3 days without sequelae. Approximately 10% of the cases experienced a recurrence.  Acute idiopathic scrotal edema is a self-limiting condition that accounts for ≥ 10% of cases of acute scrotum in children and adolescents. Georg Thieme Verlag KG Stuttgart · New York.

A case report of nephrogenic diabetes insipidus with idiopathic Fanconi syndrome in a child who presented with vitamin D resistant rickets.

PubMed

Patra, Soumya; Nadri, Gulnaz; Chowdhary, Harish; Pemde, Harish K; Singh, Varinder; Chandra, Jagdish

2014-05-01

Fanconi syndrome is a complex of multiple tubular dysfunctions of proximal tubular cells, occurring alone or in association with a variety of inherited (primary) or acquired (secondary) disorders. It is characterized by aminoaciduria, normoglycemic glycosuria, tubular proteinuria without hematuria, metabolic acidosis without anion gap and excessive urinary excretion of phosphorous, calcium, uric acid, bicarbonate, sodium, potassium and magnesium. Diabetes insipidus is a disease of collecting tubules and children mainly present with dehydration and hypernatremia. We are reporting the first case of idiopathic Fanconi's syndrome along with nephrogenic diabetes insipidus in a child who presented to us with vitamin D resistant rickets. Medline search did not reveal any case of nephrogenic diabetes insipidus (NDI) associated with idiopathic Fanconi syndrome. We hypothesized that the NDI may be due to to severe hypokalemia induced tubular dysfunction.

Outcome of patients presenting with idiopathic facial nerve paralysis (Bell's palsy) in a tertiary centre--a five year experience.

PubMed

Tang, I P; Lee, S C; Shashinder, S; Raman, R

2009-06-01

This is a retrospective study. The objective of this study is to review the factors influencing the outcome of treatment for the patients presented with idiopathic facial nerve paralysis. The demographic data, clinical presentation and management of 84 patients with idiopathic facial nerve paralysis (Bell's palsy) were collected from the medical record office, reviewed and analyzed from 2000 to 2005. Thirty-four (72.3%) out of 47 patients who were treated with oral prednisolone alone, fully recovered from Bell's palsy meanwhile 36 (97%) out of 37 patients who were treated with combination of oral prednisolone and acyclovir fully recovered. The difference was statistically significant. 42 (93.3%) out of 45 patients who presented within three days to our clinic, fully recovered while 28 (71.8%) out of 39 patients presented later then three days had full recovery from Bell's palsy. The difference was statistically significant. The outcome of full recovery is better with the patients treated with combined acyclovir and prednisolone compared with prednisolone alone. The patients who were treated after three days of clinical presentation, who were more than 50 years of age, who had concurrent chronic medical illness and facial nerve paralysis HB Grade IV to VI during initial presentation have reduced chance of full recovery of facial nerve paralysis.

Clinical utility of routine MPL exon 10 analysis in the diagnosis of essential thrombocythaemia and primary myelofibrosis.

PubMed

Boyd, Elaine M; Bench, Anthony J; Goday-Fernández, Andrea; Anand, Shubha; Vaghela, Krishna J; Beer, Phillip; Scott, Mike A; Bareford, David; Green, Anthony R; Huntly, Brian; Erber, Wendy N

2010-04-01

Approximately 50% of essential thrombocythaemia and primary myelo-fibrosis patients do not have a JAK2 V617F mutation. Up to 5% of these are reported to have a MPL exon 10 mutation but testing for MPL is not routine as there are multiple mutation types. The ability to routinely assess both JAK2 and MPL mutations would be beneficial in the differential diagnosis of unexplained thrombocytosis or myelofibrosis. We developed and applied a high resolution melt (HRM) assay, capable of detecting all known MPL mutations in a single analysis, for the detection of MPL exon 10 mutations. We assessed 175 ET and PMF patients, including 67 that were JAK2 V617F-negative by real time polymerase chain reaction (PCR). Overall, 19/175 (11%) patients had a MPL exon 10 mutation, of whom 16 were JAK2 V617F-negative (16/67; 24%). MPL mutation types were W515L (11), W515K (4), W515R (2) and W515A (1). One patient had both W515L and S505N MPL mutations and these were present in the same haemopoietic colonies. Real time PCR for JAK2 V617F analysis and HRM for MPL exon 10 status identified one or more clonal marker in 71% of patients. This combined genetic approach increases the sensitivity of meeting the World Health Organization diagnostic criteria for these myeloproliferative neoplasms.

Aetiology of idiopathic granulomatous mastitis.

PubMed

Altintoprak, Fatih; Kivilcim, Taner; Ozkan, Orhan Veli

2014-12-16

Idiopathic granulomatous mastitis is a rare chronic inflammatory lesion of the breast that can clinically and radiographically mimic breast carcinoma. The most common clinical presentation is an unilateral, discrete breast mass, nipple retraction and even a sinus formation often associated with an inflammation of the overlying skin. The etiology of idiopathic granulomatous mastitis is still obscure. Its treatment remains controversial. The cause may be the autoimmune process, infection, a chemical reaction associated with oral contraceptive pills, or even lactation. Various factors, including hormonal imbalance, autoimmunity, unknown microbiological agents, smoking and α 1-antitrypsin deficiency have been suggested to play a role in disease aetiology. In this review, causing factors in the aetiology of idiopathic granulomatous mastitis are reviewed in detail.

Aetiology of idiopathic granulomatous mastitis

PubMed Central

Altintoprak, Fatih; Kivilcim, Taner; Ozkan, Orhan Veli

2014-01-01

Idiopathic granulomatous mastitis is a rare chronic inflammatory lesion of the breast that can clinically and radiographically mimic breast carcinoma. The most common clinical presentation is an unilateral, discrete breast mass, nipple retraction and even a sinus formation often associated with an inflammation of the overlying skin. The etiology of idiopathic granulomatous mastitis is still obscure. Its treatment remains controversial. The cause may be the autoimmune process, infection, a chemical reaction associated with oral contraceptive pills, or even lactation. Various factors, including hormonal imbalance, autoimmunity, unknown microbiological agents, smoking and α 1-antitrypsin deficiency have been suggested to play a role in disease aetiology. In this review, causing factors in the aetiology of idiopathic granulomatous mastitis are reviewed in detail. PMID:25516860

An accurate, simple prognostic model consisting of age, JAK2, CALR, and MPL mutation status for patients with primary myelofibrosis.

PubMed

Rozovski, Uri; Verstovsek, Srdan; Manshouri, Taghi; Dembitz, Vilma; Bozinovic, Ksenija; Newberry, Kate; Zhang, Ying; Bove, Joseph E; Pierce, Sherry; Kantarjian, Hagop; Estrov, Zeev

2017-01-01

In most patients with primary myelofibrosis, one of three mutually exclusive somatic mutations is detected. In approximately 60% of patients, the Janus kinase 2 gene is mutated, in 20%, the calreticulin gene is mutated, and in 5%, the myeloproliferative leukemia virus gene is mutated. Although patients with mutated calreticulin or myeloproliferative leukemia genes have a favorable outcome, and those with none of these mutations have an unfavorable outcome, prognostication based on mutation status is challenging due to the heterogeneous survival of patients with mutated Janus kinase 2. To develop a prognostic model based on mutation status, we screened primary myelofibrosis patients seen at the MD Anderson Cancer Center, Houston, USA, between 2000 and 2013 for the presence of Janus kinase 2, calreticulin, and myeloproliferative leukemia mutations. Of 344 primary myelofibrosis patients, Janus kinase 2 V617F was detected in 226 (66%), calreticulin mutation in 43 (12%), and myeloproliferative leukemia mutation in 16 (5%); 59 patients (17%) were triple-negatives. A 50% cut-off dichotomized Janus kinase 2-mutated patients into those with high Janus kinase 2 V617F allele burden and favorable survival and those with low Janus kinase 2 V617F allele burden and unfavorable survival. Patients with a favorable mutation status (high Janus kinase 2 V617F allele burden/myeloproliferative leukemia/calreticulin mutation) and aged 65 years or under had a median survival of 126 months. Patients with one risk factor (low Janus kinase 2 V617F allele burden/triple-negative or age >65 years) had an intermediate survival duration, and patients aged over 65 years with an adverse mutation status (low Janus kinase 2 V617F allele burden or triple-negative) had a median survival of only 35 months. Our simple and easily applied age- and mutation status-based scoring system accurately predicted the survival of patients with primary myelofibrosis. Copyright© Ferrata Storti Foundation.

Cyclophosphamide and Busulfan Followed by Donor Stem Cell Transplant in Treating Patients With Myelofibrosis, Acute Myeloid Leukemia, or Myelodysplastic Syndrome

ClinicalTrials.gov

2017-12-01

Adult Acute Myeloid Leukemia in Remission; Adult Acute Myeloid Leukemia With 11q23 (MLL) Abnormalities; Adult Acute Myeloid Leukemia With Del(5q); Adult Acute Myeloid Leukemia With Inv(16)(p13;q22); Adult Acute Myeloid Leukemia With t(15;17)(q22;q12); Adult Acute Myeloid Leukemia With t(16;16)(p13;q22); Adult Acute Myeloid Leukemia With t(8;21)(q22;q22); Childhood Acute Myeloid Leukemia in Remission; Childhood Myelodysplastic Syndromes; de Novo Myelodysplastic Syndromes; Essential Thrombocythemia; Myelodysplastic Syndrome With Isolated Del(5q); Polycythemia Vera; Previously Treated Myelodysplastic Syndromes; Primary Myelofibrosis; Recurrent Adult Acute Myeloid Leukemia; Recurrent Childhood Acute Myeloid Leukemia; Secondary Acute Myeloid Leukemia; Secondary Myelodysplastic Syndromes; Secondary Myelofibrosis; Untreated Adult Acute Myeloid Leukemia; Untreated Childhood Acute Myeloid Leukemia and Other Myeloid Malignancies

Correction of anemia in a transfusion-dependent patient with primary myelofibrosis receiving iron chelation therapy with deferasirox (Exjade®, ICL670)

PubMed Central

Di Tucci, Anna Angela; Murru, Roberta; Alberti, Daniele; Rabault, Bertrand; Deplano, Simona; Angelucci, Emanuele

2007-01-01

Transfusional iron overload in patients with chronic anemias can result in multiple organ failure. Experience in the management of iron overload in patients with myelodysplastic syndromes is limited, as many do not receive chelation therapy due to short-life expectancy and the difficulties associated with the administration of the current reference standard chelator, deferoxamine. There have, however, been some reports of reduced transfusion requirement associated with chelation therapy in patients with myelodysplastic syndromes and myelofibrosis. Here, we discuss a patient with primary myelofibrosis and related transfusion-dependent anemia who received chelation therapy with the once-daily oral iron chelator, deferasirox. In addition to the reduced iron levels, the patient demonstrated an unexpected reduction in blood transfusion requirement, ultimately resulting in long-lasting transfusion-free survival. PMID:17391307

Etiological Theories of Adolescent Idiopathic Scoliosis: Past and Present

PubMed Central

Fadzan, Maja; Bettany-Saltikov, Josette

2017-01-01

Adolescent idiopathic scoliosis is one of the most common spinal deformities, yet its cause is unknown. Various theories look to biomechanical, neuromuscular, genetic, and environmental origins, yet our understanding of scoliosis etiology is still limited. Determining the cause of a disease is crucial to developing the most effective treatment. Associations made with scoliosis do not necessarily point to causality, and it is difficult to determine whether said associations are primary (playing a role in development) or secondary (develop as a result of scoliosis). Scoliosis is a complex condition with highly variable expression, even among family members, and likely has many causes. These causes could be similar among homogenous groups of AIS patients, or they could be individual. Here, we review the most prevalent theories of scoliosis etiology and recent trends in research. PMID:29399224

Pharmacoeconomics of ruxolitinib therapy in patients with myelofibrosis.

PubMed

Vandewalle, Björn; Andreozzi, Valeska; Almeida, João; Félix, Jorge

2016-01-01

Overall survival (OS) and other important clinical trial end-points seem increasingly more elusive in supporting rapid and efficient incorporation of innovative cancer drugs in clinical practice. This study proposes a clinical trial based pharmacoeconomic framework to assess the therapeutic and economic value of ruxolitinib in patients with intermediate-2 or high-risk myelofibrosis. Individual patient level 144 week follow-up data from the COMFORT-II trial was used to account for the crossover effect on overall survival. Lifetime treatment benefits and costs were estimated considering detailed patterns of both ruxolitinib dose adjustments and blood transfusion needs. The authors estimate a 3.3 years increment in life expectancy (HR = 0.30; 95% CI = 0.17-0.55; p-value <0.001) and an incremental cost-effectiveness ratio of €40,000 per life year gained with the use of ruxolitinib. This study also demonstrates how valuable information from clinical trials can be used to support informed decisions about the early incorporation of innovative drugs.

Idiopathic pulmonary fibrosis.

PubMed

Xaubet, Antoni; Ancochea, Julio; Molina-Molina, María

2017-02-23

Idiopathic pulmonary fibrosis is a fibrosing interstitial pneumonia associated with the radiological and/or histological pattern of usual interstitial pneumonia. Its aetiology is unknown, but probably comprises the action of endogenous and exogenous micro-environmental factors in subjects with genetic predisposition. Its diagnosis is based on the presence of characteristic findings of high-resolution computed tomography scans and pulmonary biopsies in absence of interstitial lung diseases of other aetiologies. Its clinical evolution is variable, although the mean survival rate is 2-5 years as of its clinical presentation. Patients with idiopathic pulmonary fibrosis may present complications and comorbidities which modify the disease's clinical course and prognosis. In the mild-moderate disease, the treatment consists of the administration of anti-fibrotic drugs. In severe disease, the best therapeutic option is pulmonary transplantation. In this paper we review the diagnostic and therapeutic aspects of the disease. Copyright © 2016 Elsevier España, S.L.U. All rights reserved.

Atypical headbanging presentation of idiopathic sleep related rhythmic movement disorder: three cases with video-polysomnographic documentation.

PubMed

Yeh, Shih-Bin; Schenck, Carlos H

2012-08-15

To describe three cases of sleep related, idiopathic rhythmic movement disorder (RMD) with atypical headbanging, consisting of head punching and head slapping. Three consecutive patients (2 males [11 and 13 years old) and one female [22 years old]) presented with atypical headbanging of 6 years, 7 years, and 17 years duration. In 2 cases, typical rhythmic headbanging (with use of the head) shifted after 3-4 years to atypical headbanging, with frontal head punching that was quasi-rhythmic. In one case, atypical headbanging (head-slapping) was the initial and only RMD. There was no injury from the headbanging. Prenatal, perinatal, developmental, behavioral-psychological, medical-neurological, and family histories were negative. Clinical evaluations and nocturnal video-polysomnography with seizure montage were performed on all patients. Atypical headbanging was documented in all 3 cases; episodes always emerged late in the sleep cycle: from N2 sleep in 11 episodes, from REM sleep in 4 episodes, and from N1 sleep in 1 episode. Epileptiform activity was not detected. Clonazepam therapy was substantially effective in 1 case but not effective in 2 cases. These 3 cases of idiopathic atypical headbanging expand the literature on this RMD variant, as to our knowledge only one previously documented case has been reported.

Idiopathic granulomatous mastitis: an institutional experience

PubMed Central

Prasad, Seetharam; Jaiprakash, Padmapriya; Dave, Aniket; Pai, Deepti

2017-01-01

Objective To study idiopathic granulomatous mastitis with respect to its various clinical features, etiologic factors, treatment modalities and complications. Material and methods Retrospective study of all patients who were diagnosed with idiopathic granulomatous mastitis from 1st January 2006 to 31st December 2014 at Kasturba Hospital, Manipal, India (a tertiary care referral centre). The research was performed according to the World Medical Association Declaration of Helsinki. Informed consent was taken from the patient before invasive procedures including surgery. Data was analysed using the Statistical Package for Social Sciences version 16.0 wherever appropriate. Results 73 patients diagnosed with idiopathic granulomatous mastitis during the time period were included. One patient was a male (1.37%), rest were all females (98.63%). The mean age of presentation was 32.67 years (range 23 to 66 years). 70 patients (95.89%) were parous females. Average duration since last childbirth was 4.6 years (range: 3 months to 33 years). 8 patients (10.95%) were lactating. History of oral contraceptive pill use was present in 40 patients (54.79%). The right breast was affected in 44 patients (60.27%), and the left breast in 29 patients (39.73%). None of the patients had bilateral disease. The most common symptom was a painless lump (61.64%). Rest of the patients (38.36%) presented with features of a breast abscess. 19 out of 39 FNACs done (48.72%) were positive for granulomatous mastitis. 59 were primarily managed surgically (lumpectomy/wide excision-33, incision & drainage-26). One patient was treated primarily with prednisolone. 13 patients did not receive specific treatment, and were only kept on regular follow-up. Patients managed with lumpectomy/wide excision had the least rate of complications & recurrence (18.18%). Conclusion Patients with idiopathic granulomatous mastitis can present with a wide variety of symptoms which mimic other more common conditions. Surgical

Idiopathic thoracic transdural intravertebral spinal cord herniation

PubMed Central

Turel, Mazda K; Wewel, Joshua T; Kerolus, Mena G; O'Toole, John E

2017-01-01

Idiopathic spinal cord herniation is a rare and often missed cause of thoracic myelopathy. The clinical presentation and radiological appearance is inconsistent and commonly confused with a dorsal arachnoid cyst and often is a misdiagnosed entity. While ventral spinal cord herniation through a dural defect has been previously described, intravertebral herniation is a distinct entity and extremely rare. We present the case of a 70-year old man with idiopathic thoracic transdural intravertebral spinal cord herniation and discuss the clinico-radiological presentation, pathophysiology and operative management along with a review the literature of this unusual entity. PMID:29021685

Massive periosteal reaction a presenting feature of acute megakaryocytic leukemia.

PubMed

Ueda, Takahiro; Ito, Yasuhiko; Maeda, Miho; Fukunaga, Yoshitaka

2007-12-01

Acute megakaryoblastic leukemia (AML M7) is a biologically heterogeneous form of acute myeloid leukemia accounting for 14.6% of cases. In many instances in the past, AML M7 has been classified as undifferentiated leukemia, myelodysplasia, myelofibrosis or some other disease because of its complex clinical presentation or the difficulty of obtaining and interpreting bone marrow samples. However, with currently available morphological, cytochemical, cytogenetic and immunophenotypic methods, AML M7 can now be reliably diagnosed. Although the radiographic spectrum of bony changes in leukemia have been well characterized, skeletal X-ray abnormalities in the setting of AML M7 in pediatric patients have been described in few reports that were associated with bone marrow fibrosis. Here we report on a 14-month-old girl who presented with a massive periosteal reaction of the extremities and clavicles associated with myelofibrosis, a presenting feature of AML M7. The bone changes were very unusual in this case.

Juvenile Idiopathic Arthritis

MedlinePlus

... Is Juvenile Idiopathic Arthritis the same as Juvenile Rheumatoid Arthritis? Yes, Juvenile Idiopathic Arthritis (JIA) is a new ... of chronic inflammatory diseases that affect children. Juvenile Rheumatoid Arthritis (JRA) is the older term that was used ...

Idiopathic Intracranial Hypertension (Pseudotumor Cerebri)

MedlinePlus

... Asked Questions Español Condiciones Chinese Conditions Idiopathic Intracranial Hypertension (Pseudotumor Cerebri) En Español Read in Chinese What is idiopathic intracranial hypertension? Idiopathic intracranial hypertension (IIH) is a disorder that ...

Multiple idiopathic external apical root resorption: report of four cases.

PubMed

Cholia, S S; Wilson, P H R; Makdissi, J

2005-07-01

Multiple idiopathic external root resorption is an unusual condition that may present in a cervical or an apical form. In this article, we review the published literature relating to multiple idiopathic external apical root resorption and present four clinical cases. We consider the aetiology of this condition and discuss the various treatment options.

From idiopathic diabetes insipidus to neurodegenerative Langerhans cell histiocytosis--an unusual presentation and progression of disease.

PubMed

Hayward, Rachel M; Nicolin, Gary; Kennedy, Charles; Joy, Harriet; Davies, Justin H

2011-01-01

Diabetes insipidus (DI) is rare in childhood and has a wide-ranging aetiology including the involvement of uncontrolled proliferation of dendritic cells in the hypothalamic-pituitary axis, characteristic of Langerhans cell histiocytosis (LCH). DI may manifest as a sequela of multisystem LCH disease involving skin, bone, liver, spleen and lymph nodes. In very rare cases patients diagnosed with LCH exhibit neurodegenerative changes, such as severe ataxia, tremor, dysarthria and intellectual impairment. We report a 2 1/2-year-old boy who presented initially with apparent idiopathic DI, developed anterior pituitary hormone deficiency and progressive neurological deterioration secondary to neurodegenerative LCH.

Juvenile idiopathic arthritis.

PubMed

Boros, Christina; Whitehead, Ben

2010-09-01

Juvenile idiopathic arthritis is the most common rheumatic disease in childhood, occurring in approximately 1:500 children. Despite a recent expansion in treatment options and improvement of outcomes, significant morbidity still occurs. This article outlines the clinical manifestations, assessment, detection of complications, treatment options and monitoring requirements, with the aid of guidelines recently published by The Royal Australian College of General Practitioners, which provide practical support for general practitioners to ensure best practice care and to prevent lifelong disability in patients with juvenile idiopathic arthritis. General practice plays an important role in the early detection, initial management and ongoing monitoring of children with juvenile idiopathic arthritis. Early detection involves understanding the classification framework for subtypes of juvenile idiopathic arthritis, and being aware of the clinical manifestations and how to look for them, through history, examination and appropriate investigation. The major extra-articular manifestations of juvenile idiopathic arthritis are uveitis and growth disturbance. Treatment options include nonsteroidal anti-inflammatory drugs, methotrexate, biologic agents, and corticosteroids. Management using a multidisciplinary approach can prevent long term sequelae. Unfortunately, approximately 50% of children will have active disease as adults.

Idiopathic scrotal elephantiasis.

PubMed

Hornberger, Brad J; Elmore, James M; Roehrborn, Claus G

2005-02-01

Scrotal lymphedema (scrotal elephantiasis) is a condition that has historically been described in areas endemic to filariasis. We present a unique case of a 22-year-old man with idiopathic lymphedema isolated to the scrotum. After acquired causes of lymphedema were ruled out, the patient was treated with scrotectomy and scrotal reconstruction.

Vocal cord paralysis: What matters between idiopathic and non-idiopathic cases?

PubMed

Özbal Koç, Ayça Eltaf; Türkoğlu, Seda Babakurban; Erol, Ozan; Erbek, Selim

2016-01-01

This study aims to evaluate the demographic and clinical characteristics of patients with idiopathic and non-idiopathic vocal cord paralysis (VCP). This retrospective cohort was performed on data extracted from medical files of 92 consecutive patients (43 males, 49 females; median age 52.1±23.1 years; min. 1 - max. 87) with VCP diagnosed in the otorhinolaryngology department between April 2012 and December 2015. Diagnoses associated with VCP, side of involvement (right, left or bilateral) and previous medical histories were noted and compared between patients with idiopathic and non-idiopathic VCP. Vocal cord paralysis occurred on the left side (n=56, 60.9%), right side (n=28, 30.4%) or bilaterally (n=8, 8.7%). A clinical entity related with VCP was identified in 63 patients (68.5%), while 29 (31.5%) patients had idiopathic VCP. Most common etiologies for VCP were thyroid surgery (n=32, 34.8%), cardiovascular surgery (n=9, 9.8%), lung cancer (n=6, 6.5%) and cardiac anomalies (n=4, 4.3%), respectively. Patients with idiopathic VCP were significantly older (p<0.001), while gender distribution (p=0.121) and side of involvement (p=0.340) did not differ between two groups. Vocal cord paralysis is a relatively common clinical entity with substantial rate of morbidity. Identification of the underlying etiology and awareness on the clinical characteristics are keystones for foreseeing complications and determining the appropriate therapeutic modality.

The treatment of adolescent idiopathic scoliosis (AIS) according to present evidence. A systematic review.

PubMed

Weiss, H-R; Goodall, D

2008-06-01

Traditionally, the treatment options for adolescent idiopathic scoliosis (AIS), the most common form of scoliosis, are exercises; in-patient rehabilitation; braces and surgery. The outcomes of treatments are usually compared with the natural history or observation (non-intervention). The aim of this paper was to provide a synopsis of all treatment options in the light of evidence based practice (EBP). A systematic review was carried out using the most encompassing databases available. Literature has been searched for the outcome parameter ''rate of progression'' and only prospective controlled studies that have considered the treatment versus the natural history have been included. The search strategy included the following terms: ''adolescent idiopathic scoliosis''; ''idiopathic scoliosis''; ''natural history''; ''observation''; ''physiotherapy''; ''physical therapy''; ''rehabilitation''; ''bracing''; ''orthotics'' and ''surgery''. Prospective short-term studies have been found to support outpatient physiotherapy. One prospective controlled study was found to support scoliosis in-patient rehabilitation (SIR). One prospective multi-centre study, a long-term prospective controlled study and a meta-analysis have been found to support bracing. No controlled study, neither short, mid nor long-term, was found to reveal any substantial evidence to support surgery as a treatment for this condition. There is some evidence supporting the conservative treatment for AIS. No substantial evidence has been found in terms of prospective controlled studies to support surgical intervention. In light of the unknown long-term effects of surgery, a randomised controlled trial (RCT) seems necessary. Due to the presence of evidence to support conservative treatments, a plan to compose a RCT for conservative treatment options seems unethical. But it is also important to conclude that the evidence for conservative treatments is weak in number and length.

Idiopathic CD4 lymphocytopenia: Pathogenesis, etiologies, clinical presentations and treatment strategies.

PubMed

Yarmohammadi, Hale; Cunningham-Rundles, Charlotte

2017-10-01

Idiopathic CD4 lymphocytopenia (ICL) is a rare condition characterized by an unexplained deficit of circulating CD4 T cells leading to increased risk of serious opportunistic infections. The pathogenesis, etiology, clinical presentation, and best treatment options remain unclear. To describe the clinical presentation, treatment strategies, and outcome of patients with ICL seen in a single referral center. In a retrospective study, from January 1993 to January 2014, the demographic characteristics, clinical presentation, and treatments of patients diagnosed with ICL were reviewed. Twenty-four patients (14 female [58%] and 10 male [42%]) were evaluated. The mean age was 45 ± 17.6 years (range 7-76 years). Mean CD4 and CD8 T-cell counts at the time of diagnosis were 119 ± 84/mm 3 (range 4-294/mm 3 ) and 219 ± 258/mm 3 (range 7-630/mm 3 ), respectively. Seventeen patients (71%) had opportunistic infections, 4 (17%) had malignancies, and 3 (13%) had unexplained demyelinating disease and neurologic problems. Most patients had normal levels of immunoglobulins. Thirteen patients had abnormally low to absent response to phytohemagglutinin, concanavalin A, and antigens (candida and tetanus). Three patients had resolution of warts and 1 had mycobacterial lung infection on interleukin-2 with increases in CD4 count. The 11 patients on trimethoprim and sulfamethoxazole had no further hospital admissions for infections. The pathogenesis of ICL remains unclear. Although only some patients are healthy, most patients present with opportunistic infections. There is no known standard treatment aside from prophylactic antibiotics. Copyright © 2017 American College of Allergy, Asthma & Immunology. Published by Elsevier Inc. All rights reserved.

Assessment of the paraspinal muscles of subjects presenting an idiopathic scoliosis: an EMG pilot study

PubMed Central

Gaudreault, Nathaly; Arsenault, A Bertrand; Larivière, Christian; DeSerres, Sophie J; Rivard, Charles-Hilaire

2005-01-01

Background It is known that the back muscles of scoliotic subjects present abnormalities in their fiber type composition. Some researchers have hypothesized that abnormal fiber composition can lead to paraspinal muscle dysfunction such as poor neuromuscular efficiency and muscle fatigue. EMG parameters were used to evaluate these impairments. The purpose of the present study was to examine the clinical potential of different EMG parameters such as amplitude (RMS) and median frequency (MF) of the power spectrum in order to assess the back muscles of patients presenting idiopathic scoliosis in terms of their neuromuscular efficiency and their muscular fatigue. Methods L5/S1 moments during isometric efforts in extension were measured in six subjects with idiopathic scoliosis and ten healthy controls. The subjects performed three 7 s ramp contractions ranging from 0 to 100% maximum voluntary contraction (MVC) and one 30 s sustained contraction at 75% MVC. Surface EMG activity was recorded bilaterally from the paraspinal muscles at L5, L3, L1 and T10. The slope of the EMG RMS/force (neuromuscular efficiency) and MF/force (muscle composition) relationships were computed during the ramp contractions while the slope of the EMG RMS/time and MF/time relationships (muscle fatigue) were computed during the sustained contraction. Comparisons were performed between the two groups and between the left and right sides for the EMG parameters. Results No significant group or side differences between the slopes of the different measures used were found at the level of the apex (around T10) of the major curve of the spine. However, a significant side difference was seen at a lower level (L3, p = 0.01) for the MF/time parameter. Conclusion The EMG parameters used in this study could not discriminate between the back muscles of scoliotic subjects and those of control subject regarding fiber type composition, neuromuscular efficiency and muscle fatigue at the level of the apex. The

Practical management of patients with myelofibrosis receiving ruxolitinib.

PubMed

Harrison, Claire; Mesa, Ruben; Ross, David; Mead, Adam; Keohane, Clodagh; Gotlib, Jason; Verstovsek, Srdan

2013-10-01

Myelofibrosis (MF) is characterized by bone marrow fibrosis, progressive anemia and extramedullary hematopoiesis, primarily manifested as splenomegaly. Patients also experience debilitating constitutional symptoms, including sequelae of splenomegaly, night sweats and fatigue. Ruxolitinib (INC424, INCB18424, Jakafi, Jakavi), a JAK1 and JAK2 inhibitor, was approved in November 2011 by the US FDA for the treatment of intermediate- or high-risk MF, and more recently in Europe and Canada for the treatment of MF-related splenomegaly or symptoms. These approvals were based on data from two randomized Phase III studies: COMFORT-I randomized against placebo, and COMFORT-II randomized against best available therapy. In these studies, ruxolitinib rapidly improved multiple disease manifestations of MF, reducing splenomegaly and improving quality of life of patients and potentially prolonging survival. However, as with other chemotherapies, ruxolitinib therapy is associated with some adverse events, such as anemia and thrombocytopenia. The aims of this article are to provide a brief overview of ruxolitinib therapy, to discuss some common adverse events associated with ruxolitinib therapy and to provide clinical management recommendations to maximize patients' benefit from ruxolitinib.

[Physical therapy for idiopathic scoliosis].

PubMed

Steffan, K

2015-11-01

The objective is the description and summary of the current state of idiopathic scoliosis treatment with physical therapy based on new scientific knowledge and concluded from more than 15 years of experience as a leading physician in two well-known clinics specializing in the conservative treatment of scoliosis. Based on current scientific publications on physical therapy in scoliosis treatment and resulting from the considerable personal experience gained working with conservative treatment and consulting scoliosis patients (as inpatients and outpatients), the current methods of physical therapy have been compared and evaluated. Physical therapy according to Schroth and Vojta therapy are at present the most common and effective methods in the physical treatment of idiopathic scoliosis. These methods can be applied during inpatient or outpatient treatment or intensified in the practice of specialized therapists. As there are only a few scientific studies on this subject, the author's findings are based mainly on his own experiences of the conservative treatment of idiopathic scoliosis. Athough these experiences are the results of over 15 years of working in the field of therapy, and the Schroth method in combination with corrective bracing presents highly promising results, it would nevertheless be desirable to conduct detailed scientific studies to verify the effectiveness of conservative treatment.

Hematologic malignancies

DOE Office of Scientific and Technical Information (OSTI.GOV)

Hoogstraten, B.

1986-01-01

The principle aim of this book is to give practical guidelines to the modern treatment of the six important hematologic malignancies. Topics considered include the treatment of the chronic leukemias; acute leukemia in adults; the myeloproliferative disorders: polycythemia vera, essential thrombocythemia, and idiopathic myelofibrosis/agnogenic myeloid metaplasia; Hodgkin's Disease; non-Hodgkin's lymphoma; and Multiple Myeloma.

Idiopathic intracranial hypertension and sickle cell disease: two case reports.

PubMed

Segal, Laura; Discepola, Marino

2005-12-01

Two patients with sickle cell disease presented with headaches and visual disturbances, typical complaints of this disorder. However, prompt diagnosis of idiopathic intracranial hypertension and initiation of medical therapy lead to improved symptoms and restored vision. Ophthalmologists should consider sickle cell disease to be an independent risk factor for idiopathic intracranial hypertension when a patient is being assessed for visual disturbances. Although a rare condition, idiopathic intracranial hypertension has several key signs useful in establishing a diagnosis. It is critical to recognize the warning signs and symptoms to prevent devastating ophthalmologic complications. We report the first cases of idiopathic intracranial hypertension in patients with the novel Quebec-Chori beta-chain variant of sickle cell disease.

Intestinal Volvulus in Idiopathic Steatorrhea

PubMed Central

Warner, H. A.; Kinnear, D. G.; Cameron, D. G.

1963-01-01

Volvulus of the intestine has recently been observed in three patients with idiopathic steatorrhea in relapse. Two patients gave a history of intermittent abdominal pain, distension and obstipation. Radiographic studies during these attacks revealed obstruction at the level of the sigmoid colon. Reduction under proctoscopic control was achieved in one instance, spontaneous resolution occurring in the other. The third patient presented as a surgical emergency and underwent operative reduction of a small intestinal volvulus. Persistence of diarrhea and weight loss postoperatively led to further investigation and a diagnosis of idiopathic steatorrhea. In all cases, treatment resulted in clinical remission with a coincident disappearance of obstructive intestinal symptoms. The pathogenesis of volvulus in sprue is poorly understood. Atonicity and dilatation of the bowel and stretching of the mesentery likely represent important factors. The symptoms of recurrent abdominal pain and distension in idiopathic steatorrhea necessitate an increased awareness of intestinal volvulus as a complication of this disease. ImagesFig. 1Fig. 2Fig. 3Figs. 4 and 5Fig. 6 PMID:13998948

Pelvic confined idiopathic retroperitoneal fibrosis mimicking a large tumor.

PubMed

Salemis, N S; Tsiambas, E; Tsohataridis, E

2009-01-01

Idiopathic retroperitoneal fibrosis (IRF) entirely confined to the pelvic cavity is an extremely rare clinical entity. Herein, is described the case of a 36- year old male who presented with clinical and imaging manifestations of a large pelvic tumor. Exploratory laparotomy revealed a large mass in the right pelvis originating from the retroperitoneal space, displacing the right iliac vessels, the right ureter and the urinary bladder completely to the left. A laborious resection of the mass measuring 14 x 10cm was performed. Histopathological examination and detailed immunohistochemistry analysis were suggestive of idiopathic retroperitoneal fibrosis with no evidence of malignancy. This is a very rare case regarding localization and clinical presentation of idiopathic retroperitoneal fibrosis. We conclude that IRF should be included in the differential diagnosis of patients presenting with a pelvic mass even if there is no involvement of the typical para aortic area.

Idiopathic inflammatory myopathies overlapping with systemic diseases

PubMed Central

Lepreux, Sébastien; Hainfellner, Johannes A.; Vital, Anne

2018-01-01

A muscle biopsy is currently requested to assess the diagnosis of an idiopathic inflammatory myopathy overlapping with a systemic disease. During the past few years, the classification of inflammatory myopathy subtypes has been revisited progressively on the basis of correlations between clinical phenotypes, autoantibodies and histological data. Several syndromic entities are now more clearly defined, and the aim of the present review is to clarify the contribution of muscle biopsy in a setting of idiopathic inflammatory myopathies overlapping with systemic diseases. PMID:29154752

Efficacy of ALK5 inhibition in myelofibrosis

PubMed Central

Zhao, Wanke; Ho, Wanting Tina; Han, Ying; Murdun, Cem; Mailloux, Adam W.; Zhang, Ling; Wang, Xuefeng; Budhathoki, Anjali; Pradhan, Kith; Rapaport, Franck; Wang, Huaquan; Shao, Zonghong; Ren, Xiubao; Steidl, Ulrich; Levine, Ross L.; Zhao, Zhizhuang Joe; Verma, Amit; Epling-Burnette, Pearlie K.

2017-01-01

Myelofibrosis (MF) is a bone marrow disorder characterized by clonal myeloproliferation, aberrant cytokine production, extramedullary hematopoiesis, and bone marrow fibrosis. Although somatic mutations in JAK2, MPL, and CALR have been identified in the pathogenesis of these diseases, inhibitors of the Jak2 pathway have not demonstrated efficacy in ameliorating MF in patients. TGF-β family members are profibrotic cytokines and we observed significant TGF-β1 isoform overexpression in a large cohort of primary MF patient samples. Significant overexpression of TGF-β1 was also observed in murine clonal MPLW515L megakaryocytic cells. TGF-β1 stimulated the deposition of excessive collagen by mesenchymal stromal cells (MSCs) by activating the TGF-β receptor I kinase (ALK5)/Smad3 pathway. MSCs derived from MPLW515L mice demonstrated sustained overproduction of both collagen I and collagen III, effects that were abrogated by ALK5 inhibition in vitro and in vivo. Importantly, use of galunisertib, a clinically active ALK5 inhibitor, significantly improved MF in both MPLW515L and JAK2V617F mouse models. These data demonstrate the role of malignant hematopoietic stem cell (HSC)/TGF-β/MSC axis in the pathogenesis of MF, and provide a preclinical rationale for ALK5 blockade as a therapeutic strategy in MF. PMID:28405618

The Amelioration of Myelofibrosis with Thrombocytopenia by a JAK1/2 Inhibitor, Ruxolitinib, in a Post-polycythemia Vera Myelofibrosis Patient with a JAK2 Exon 12 Mutation.

PubMed

Ikeda, Kazuhiko; Ueda, Koki; Sano, Takahiro; Ogawa, Kazuei; Ikezoe, Takayuki; Hashimoto, Yuko; Morishita, Soji; Komatsu, Norio; Ohto, Hitoshi; Takeishi, Yasuchika

2017-01-01

Less than 5% of patients with polycythemia vera (PV) show JAK2 exon 12 mutations. Although PV patients with JAK2 exon 12 mutations are known to develop post-PV myelofibrosis (MF) as well as PV with JAK2V617F, the role of JAK inhibitors in post-PV MF patients with JAK2 exon 12 mutations remains unknown. We describe how treatment with a JAK1/2 inhibitor, ruxolitinib, led to the rapid amelioration of marrow fibrosis, erythrocytosis and thrombocytopenia in a 77-year-old man with post-PV MF who carried a JAK2 exon 12 mutation (JAK2H538QK539L). This case suggests that ruxolitinib is a treatment option for post-PV MF in patients with thrombocytopenia or JAK2 exon 12 mutations.

Idiopathic granulomatous mastitis: a diagnostic dilemma for the breast radiologist.

PubMed

Sripathi, Smiti; Ayachit, Anurag; Bala, Archana; Kadavigere, Rajagopal; Kumar, Sandeep

2016-08-01

Idiopathic granulomatous mastitis is a chronic inflammatory disease of the breast, which is often difficult to differentiate both clinically and radiologically from infectious aetiologies such as tuberculosis, fungal infections, and also from malignancy, thus posing a diagnostic dilemma. We present a pictorial review of the commonly encountered imaging findings in idiopathic granulomatous mastitis on mammography and ultrasound. Mammographic and ultrasound findings of histopathologically proven cases of granulomatous mastitis are discussed. Idiopathic granulomatous mastitis has varied and non-specific appearances on ultrasound and mammography. Histopathology is essential to establish diagnosis. • Idiopathic granulomatous mastitis often poses a diagnostic dilemma for the radiologist by mimicking malignancy. • It has varied and non-specific appearances on mammography and ultrasound. • Histopathology is mandatory to establish the diagnosis and decide management.

Orthodontic treatment in patient with idiopathic root resorption: a case report.

PubMed

Rey, Diego; Smit, Rosana Martínez; Gamboa, Liliana

2015-01-01

Multiple idiopathic external root resorption is a rare pathological condition usually detected as an incidental radiographic finding. External root resorption of permanent teeth is a multifactorial process related to several local and systemic factors. If an etiological factor cannot be identified for root resorption, the term "idiopathic" is applied. This report presents a case of multiple idiopathic apical root resorption. The condition was found in a young female patient seeking orthodontic treatment due to malocclusion. This kind of resorption starts apically and progresses coronally, causing a gradual shortening and rounding of the remaining root. Patients with this condition are not the ideal candidates for orthodontic treatment; however, the aim of this report is to describe an unusual case of idiopathic root resorption involving the entire dentition, and to present the orthodontic treatment of this patient. It describes the progress and completion of orthodontic therapy with satisfactory end results.

STELLATE NONHEREDITARY IDIOPATHIC FOVEOMACULAR RETINOSCHISIS ACCOMPANIED BY CONTRALATERAL PERIPHERAL RETINOSCHISIS.

PubMed

Ahmed, Daniel; Stattin, Martin; Glittenberg, Carl; Krebs, Ilse; Ansari-Shahrezaei, Siamak

2017-01-16

To present a patient with stellate nonhereditary idiopathic foveomacular retinoschisis on one eye and peripheral retinoschisis without foveal affection on the other eye. A case report with complete workup of family history and clinical examination, including multimodal imaging with optical coherence tomography and angiography, fluorescein angiography, and infrared fundus imaging. Genetic testing for gene mutation XRLS1 was performed. A white woman with unremarkable medical history presented with stellate foveal splitting of the outer plexiform layer on the right eye and peripheral splitting of the outer plexiform layer on both eyes. All known allegeable trigger factors for the existence of a hereditary or acquired foveomacular retinoschisis were ruled out either by clinical presentation or genetic testing. This led to the diagnosis of stellate nonhereditary idiopathic foveomacular retinoschisis with central involvement only present on one eye. Although peripheral schisis of the outer plexiform layer is often concomitant with central splitting in X-linked juvenile retinoschisis, this is the first known report of nonhereditary cleavage of the outer plexiform layer of the peripheral retina without central affection in a patient with documented stellate nonhereditary idiopathic foveomacular retinoschisis on the other eye. These findings suggest an accurate bilateral examination of the peripheral retina while confirming the diagnose of stellate nonhereditary idiopathic foveomacular retinoschisis.

Idiopathic granulomatous mastitis masquerading as carcinoma of the breast: a case report and review of the literature

PubMed Central

Tuli, Richard; O'Hara, Brian J; Hines, Janet; Rosenberg, Anne L

2007-01-01

Background Idiopathic granulomatous mastitis is an uncommon, benign entity with a diagnosis of exclusion. The typical clinical presentation of idiopathic granulomatous mastitis often mimics infection or malignancy. As a result, histopathological confirmation of idiopathic granulomatous mastitis combined with exclusion of infection, malignancy and other causes of granulomatous disease is absolutely necessary. Case Presentation We present a case of a young woman with idiopathic granulomatous mastitis, initially mistaken for mastitis as well as breast carcinoma, and successfully treated with a course of corticosteroids. Conclusion There is no clear clinical consensus regarding the ideal therapeutic management of idiopathic granulomatous mastitis. Treatment options include expectant management with spontaneous remission, corticosteroid therapy, immunosuppressive agents and extensive surgery for refractory cases. PMID:17662130

Idiopathic Fanconi's syndrome with nephrogenic diabetes insipidus in a child who presented as vitamin D resistant rickets--a case report and review of literature.

PubMed

Patra, Soumya; Nadri, Gulnaz; Chowdhary, Harish; Pemde, Harish K; Singh, Varinder; Chandra, Jagdish

2011-01-01

Fanconi's syndrome is a complex of multiple tubular dysfunctions of proximal tubular cells occurring alone or in association with a variety of inherited (primary) or acquired (secondary) disorders. It is characterized by aminoaciduria, normoglycemic glycosuria, tubular proteinuria without hematuria, metabolic acidosis without anion gap and excessive urinary excretion of phosphorous, calcium, uric acid, bicarbonate, sodium, potassium and magnesium. Diabetes insipidus is a disease of collecting tubules and a child mainly presents with dehydration and hypernatremia. We report the first case of idiopathic Fanconi's syndrome along with nephrogenic diabetes insipidus (NDI) in a child who presented to us as resistant rickets. Medline search did not reveal any case of nephrogenic diabetes insipidus associated with idiopathic Fanconi's syndrome. We hypothesized that the NDI may be due to severe hypokalemia induced tubular dysfunction. The child was treated for hypophosphatemic rickets with severe metabolic acidosis and the treatment for NDI was also given. Now he has healed rickets and normal blood pH, sodium and osmolarity.

Non-marfan idiopathic medionecrosis (cystic medial necrosis) presenting with multiple visceral artery aneurysms and diffuse connective tissue fragility: Two brothers

DOE Office of Scientific and Technical Information (OSTI.GOV)

Kubota, Jun; Tsunemura, Mami; Amano, Shigeko

1997-05-15

Two brothers with multiple visceral artery aneurysms or dilatations and diffuse connective tissue fragility who did not have clinical features of Marfan syndrome are reported. One presented with retroperitoneal hemorrhage during angiography, and idiopathic medionecrosis was proved by resection of the aneurysms. These cases belong to the heterogeneous group of Marfan syndrome. The angiographical features (multiple dilation of visceral arteries) suggests fragility of connective tissue and is predictive of hazards during and after a catheterization and operation.

Pacritinib versus best available therapy for the treatment of myelofibrosis irrespective of baseline cytopenias (PERSIST-1): an international, randomised, phase 3 trial.

PubMed

Mesa, Ruben A; Vannucchi, Alessandro M; Mead, Adam; Egyed, Miklos; Szoke, Anita; Suvorov, Aleksandr; Jakucs, Janos; Perkins, Andrew; Prasad, Ritam; Mayer, Jiri; Demeter, Judit; Ganly, Peter; Singer, Jack W; Zhou, Huafeng; Dean, James P; Te Boekhorst, Peter A; Nangalia, Jyoti; Kiladjian, Jean-Jacques; Harrison, Claire N

2017-05-01

Available therapies for myelofibrosis can exacerbate cytopenias and are not indicated for patients with severe thrombocytopenia. Pacritinib, which inhibits both JAK2 and FLT3, induced spleen responses with limited myelosuppression in phase 1/2 trials. We aimed to assess the efficacy and safety of pacritinib versus best available therapy in patients with myelofibrosis irrespective of baseline cytopenias. This international, multicentre, randomised, phase 3 trial (PERSIST-1) was done at 67 sites in 12 countries. Patients with higher-risk myelofibrosis (with no exclusions for baseline anaemia or thrombocytopenia) were randomly assigned (2:1) to receive oral pacritinib 400 mg once daily or best available therapy (BAT) excluding JAK2 inhibitors until disease progression or unacceptable toxicity. Randomisation was stratified by risk category, platelet count, and region. Treatment assignments were known to investigators, site personnel, patients, clinical monitors, and pharmacovigilance personnel. The primary endpoint was spleen volume reduction (SVR) of 35% or more from baseline to week 24 in the intention-to-treat population as assessed by blinded, centrally reviewed MRI or CT. We did safety analyses in all randomised patients who received either treatment. Here we present the final data. This trial is registered with ClinicalTrials.gov, number NCT01773187. Between Jan 8, 2013, and Aug 1, 2014, 327 patients were randomly assigned to pacritinib (n=220) or BAT (n=107). Median follow-up was 23·2 months (IQR 14·8-28·7). At week 24, the primary endpoint of SVR of 35% or more was achieved by 42 (19%) patients in the pacritinib group versus five (5%) patients in the BAT group (p=0·0003). 90 patients in the BAT group crossed over to receive pacritinib at a median of 6·3 months (IQR 5·8-6·7). The most common grade 3-4 adverse events through week 24 were anaemia (n=37 [17%]), thrombocytopenia (n=26 [12%]), and diarrhoea (n=11 [5%]) in the pacritinib group, and anaemia (n

Calreticulin mutants in mice induce an MPL-dependent thrombocytosis with frequent progression to myelofibrosis.

PubMed

Marty, Caroline; Pecquet, Christian; Nivarthi, Harini; El-Khoury, Mira; Chachoua, Ilyas; Tulliez, Micheline; Villeval, Jean-Luc; Raslova, Hana; Kralovics, Robert; Constantinescu, Stefan N; Plo, Isabelle; Vainchenker, William

2016-03-10

Frameshift mutations in the calreticulin (CALR) gene are seen in about 30% of essential thrombocythemia and myelofibrosis patients. To address the contribution of the CALR mutants to the pathogenesis of myeloproliferative neoplasms, we engrafted lethally irradiated recipient mice with bone marrow cells transduced with retroviruses expressing these mutants. In contrast to wild-type CALR, CALRdel52 (type I) and, to a lesser extent, CALRins5 (type II) induced thrombocytosis due to a megakaryocyte (MK) hyperplasia. Disease was transplantable into secondary recipients. After 6 months, CALRdel52-, in contrast to rare CALRins5-, transduced mice developed a myelofibrosis associated with a splenomegaly and a marked osteosclerosis. Monitoring of virus-transduced populations indicated that CALRdel52 leads to expansion at earlier stages of hematopoiesis than CALRins5. However, both mutants still specifically amplified the MK lineage and platelet production. Moreover, a mutant deleted of the entire exon 9 (CALRdelex9) did not induce a disease, suggesting that the oncogenic property of CALR mutants was related to the new C-terminus peptide. To understand how the CALR mutants target the MK lineage, we used a cell-line model and demonstrated that the CALR mutants, but not CALRdelex9, specifically activate the thrombopoietin (TPO) receptor (MPL) to induce constitutive activation of Janus kinase 2 and signal transducer and activator of transcription 5/3/1. We confirmed in c-mpl- and tpo-deficient mice that expression of Mpl, but not of Tpo, was essential for the CALR mutants to induce thrombocytosis in vivo, although Tpo contributes to disease penetrance. Thus, CALR mutants are sufficient to induce thrombocytosis through MPL activation. © 2016 by The American Society of Hematology.

Study on Treatment with Respect to Idiopathic Scoliosis

NASA Astrophysics Data System (ADS)

Takeuchi, Kenzen; Azegami, Hideyuki; Murachi, Shunji; Kitoh, Junzoh; Ishida, Yoshito; Kawakami, Noriaki; Makino, Mitsunori

A hypothesis that the thoracic idiopathic scoliosis is buckling phenomenon of the fourth mode induced by the growth of thoracic vertebral bodies was presented in the previous work by the authors using numerical simulations with finite element model of the spine. If the hypothesis is acceptable, sensitivity function with respect to the critical growth of thoracic vertebrae on the maximization problem of buckling load with the fourth buckling mode gives us useful information to improve and develop treatments for the idiopathic scoliosis. The numerical results analyzed by the finite element method demonstrated that the sensitivity function is high at the articular capsules of the intervertebral joints, the intervertebral disks, the costotransverse joints and the constovertebral joints around the apex of the curvature in the case of the thoracic idiopathic scoliosis.

Influence of past breast feeding on pattern and severity of presentation of juvenile idiopathic arthritis.

PubMed

Hyrich, Kimme L; Baildam, Eileen; Pickford, Hannah; Chieng, Alice; Davidson, Joyce E; Foster, Helen; Gardner-Medwin, Janet; Wedderburn, Lucy R; Thomson, Wendy

2016-04-01

This analysis aimed to study the influence of breast feeding on the pattern and severity of juvenile idiopathic arthritis (JIA) at presentation. The association between ever versus never breast feeding and disease severity at onset was compared in 923 children with JIA recruited to the UK Childhood Arthritis Prospective Study at first presentation to rheumatology. Fifty six per cent of children were ever breast fed (median 3.7 months). Breastfed children reported a lower median age at onset, a lower Childhood Health Assessment Questionnaire (CHAQ), a measure of disease severity, lower parent general evaluation scores and lower pain at presentation. There was a trend towards a higher proportion of breastfed children with rheumatoid factor-negative polyarthritis, but lesser enthesitis-related and psoriatic arthritis. There was a statistically significant inverse association between breast feeding and high CHAQ, even after adjusting for differences in socioeconomic status (adjusted OR 0.61 (95% CI 0.39 to 0.95)). Further work to understand the reasons behind these associations is required. 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/

Idiopathic hemifacial spasm responsive to zonisamide: a case report.

PubMed

Siniscalchi, Antonio; Gallelli, Luca; Palleria, Caterina; De Sarro, Giovambattista

2009-01-01

We describe a patient with idiopathic hemifacial spasm (HFS) that was responsive to zonisamide treatment. A 65-year-old woman presented with a 4-year history of left-sided HFS developing gradually, starting from the upper facial muscles. After several analyses, the diagnosis of idiopathic HFS was made, and the clonazepam treatment (0.5 mg every 8 hours) was started, without a complete remission of symptoms. Therefore, zonisamide (150 mg twice a day for a 6-week period) was added, with a complete resolution. The rechallenge with zonisamide after its dechallenge confirmed its effectiveness. During follow-up, the patient remained symptom-free, with no adverse drug reactions. We suggest that zonisamide could represent a useful therapeutic option in the treatment of idiopathic HFS.

IgG abnormality in narcolepsy and idiopathic hypersomnia.

PubMed

Tanaka, Susumu; Honda, Makoto

2010-03-05

A close association between narcolepsy and the Human Leukocyte Antigen (HLA)-DQB1*0602 allele suggests the involvement of the immune system, or possibly an autoimmune process. We investigated serum IgG levels in narcolepsy. We measured the serum total IgG levels in 159 Japanese narcolepsy-cataplexy patients positive for the HLA-DQB1*0602 allele, 28 idiopathic hypersomnia patients with long sleep time, and 123 healthy controls (the HLA-DQB1*0602 allele present in 45 subjects). The serum levels of each IgG subclass were subsequently measured. The distribution of serum IgG was significantly different among healthy controls negative for the HLA-DQB1*0602 allele (11.66+/-3.55 mg/ml), healthy controls positive for the HLA-DQB1*0602 allele (11.45+/-3.43), narcolepsy patients (9.67+/-3.38), and idiopathic hypersomnia patients (13.81+/-3.80). None of the following clinical variables, age, disease duration, Epworth Sleepiness Scale, smoking habit and BMI at the time of blood sampling, were associated with IgG levels in narcolepsy or idiopathic hypersomnia. Furthermore we found the decrease in IgG1 and IgG2 levels, stable expression of IgG3, and the increase in the proportion of IgG4 in narcolepsy patients with abnormally low IgG levels. The increase in the proportion of IgG4 levels was also found in narcolepsy patients with normal serum total IgG levels. Idiopathic hypersomnia patients showed a different pattern of IgG subclass distribution with high IgG3 and IgG4 level, low IgG2 level, and IgG1/IgG2 imbalance. Our study is the first to determine IgG abnormalities in narcolepsy and idiopathic hypersomnia by measuring the serum IgG levels in a large number of hypersomnia patients. The observed IgG abnormalities indicate humoral immune alterations in narcolepsy and idiopathic hypersomnia. Different IgG profiles suggest immunological differences between narcolepsy and idiopathic hypersomnia.

Treatment of idiopathic pulmonary fibrosis with losartan: a pilot project.

PubMed

Couluris, Marisa; Kinder, Brent W; Xu, Ping; Gross-King, Margaret; Krischer, Jeffrey; Panos, Ralph J

2012-10-01

Idiopathic pulmonary fibrosis is a progressive interstitial lung disease with no current effective therapies. Treatment has focused on antifibrotic agents to stop proliferation of fibroblasts and collagen deposition in the lung. We present the first clinical trial data on the use of losartan, an antifibrotic agent, to treat idiopathic pulmonary fibrosis. The primary objective was to evaluate the effect of losartan on progression of idiopathic pulmonary fibrosis measured by the change in percentage of predicted forced vital capacity (%FVC) after 12 months. Secondary outcomes included the change in forced expiratory volume at 1 second, diffusing capacity of carbon monoxide, 6-minute walk test distance, and baseline/transition dyspnea index. Patients with idiopathic pulmonary fibrosis and a baseline %FVC of ≥50 % were treated with losartan 50 mg by mouth daily for 12 months. Pulmonary function testing, 6-minute walk, and breathlessness indices were measured every 3 months. Twenty participants with idiopathic pulmonary fibrosis were enrolled and 17 patients were evaluable for response. Twelve patients had a stable or improved %FVC at study month 12. Similar findings were observed in secondary end-point measures, including 58, 71, and 65 % of patients with stable or improved forced expiratory volume at 1 second, diffusing capacity for carbon monoxide, and 6-minute walk test distance, respectively. No treatment-related adverse events that resulted in early study discontinuation were reported. Losartan stabilized lung function in patients with idiopathic pulmonary fibrosis over 12 months. Losartan is a promising agent for the treatment of idiopathic pulmonary fibrosis and has a low toxicity profile.

[Coincidence of juvenile idiopathic arthritis and multiple sclerosis: case report].

PubMed

Puszczewicz, Mariusz J; Tuchocka-Piotrowska, Aleksandra; Majewski, Dominik; Kołczewska, Aleksandra

2006-01-01

Juvenile idiopathic arthritis is a systemic pathology of connective tissue characterized by a chronic inflammatory process with an autoimmune background whereas multiple sclerosis is a demyelination disease with an important role of immune disorders in its pathogenesis. The etiology in both cases remains unknown. The coincidence of juvenile idiopathic arthritis and multiple sclerosis was described a just a few patients. We now report on a 31-year-old woman with juvenile idiopathic arthritis and multiple sclerosis. In the present case, the main problem was to find the right proper medication for a very, aggressive course of multiple sclerosis and for arthritis. Treatment with interferon-beta and methylprednisolone led to remission with just minor side-effects.

Natural history of idiopathic diabetes insipidus.

PubMed

Richards, Gail E; Thomsett, Michael J; Boston, Bruce A; DiMeglio, Linda A; Shulman, Dorothy I; Draznin, Martin

2011-10-01

To determine what percentage of diabetes insipidus (DI) in childhood is idiopathic and to assess the natural history of idiopathic DI. We conducted a retrospective chart review of 105 patients with DI who were born or had DI diagnosed between 1980-1989 at 3 medical centers. A second cohort of 30 patients from 6 medical centers in whom idiopathic DI was diagnosed after 1990 was evaluated retrospectively for subsequent etiologic diagnoses and additional hypothalamic/pituitary deficiencies and prospectively for quality of life. In the first cohort, 11% of patients had idiopathic DI. In the second cohort, additional hypothalamic/pituitary hormone deficiencies developed in 33%, and 37% received an etiologic diagnosis for DI. Health-related quality of life for all the patients with idiopathic DI was comparable with the healthy reference population. Only a small percentage of patients with DI will remain idiopathic after first examination. Other hormone deficiencies will develop later in one-third of those patients, and slightly more than one-third of those patients will have an etiology for the DI diagnosed. Long-term surveillance is important because tumors have been diagnosed as long as 21 years after the onset of DI. Quality of life for these patients is as good as the reference population. Copyright © 2011 Mosby, Inc. All rights reserved.

Idiopathic pulmonary fibrosis misdiagnosed as sputum-negative pulmonary tuberculosis.

PubMed

Isah, Muhammad Danasabe; Abbas, Aminu; Abba, Abdullahi A; Umar, Mohammed

2016-01-01

Idiopathic pulmonary fibrosis (IPF), also known as cryptogenic fibrosing alveolitis, is one of a spectrum of idiopathic interstitial pneumonia. IPF is an increasingly common condition which poses many diagnostic and therapeutic challenges leading to misdiagnosis and mismanagement. We presented a 55-year-old male textile trader who was initially managed as sputum-negative pulmonary tuberculosis before histology report. He presented to our clinic with Breathlessness and cough of 3 years and 2.5 years, respectively. He had commenced anti-tuberculosis two months before presentation without significant relief. General Physical examination and vital signs were essentially normal. SPO2 was 96% on room air. Chest Examination revealed end-inspiratory bi-basal velcro-like crackles. Other systemic examinations were normal. Radiological examination by way of chest X- ray and chest CT showed features suggestive of IPF. The patient also had open Lung biopsy for histology and spirometry which demonstrated restrictive ventilatory function pattern. A diagnosis of Interstitial lung disease probably Idiopathic Pulmonary Fibrosis was entertained. He was commenced on Tab prednisolone, Tab Rabeprazole, with minimal improvement. IPF have often been misdiagnosed and treated as pulmonary tuberculosis with unfavorable outcome.

Vitamin D deficiency in chronic idiopathic urticaria.

PubMed

Movahedi, Masoud; Tavakol, Marzieh; Hirbod-Mobarakeh, Armin; Gharagozlou, Mohammad; Aghamohammadi, Asghar; Tavakol, Zahra; Momenzadeh, Kaveh; Nabavi, Mohammad; Dabbaghzade, Abbas; Mosallanejad, Asieh; Rezaei, Nima

2015-04-01

Chronic urticaria is the most common skin diseases, characterized by chronic cutaneous lesions which severely debilitates patients in several aspects of their everyday life. Vitamin D is known to exert several actions in the immune system and to influence function and differentiation of mast cells, central role players in the pathogenesis of chronic idiopathic urticaria. This study was performed to evaluate the relationship between vitamin D levels and susceptibility to chronic idiopathic urticaria. One hundred and fourteen patients with chronic idiopathic urticaria were recruited in this study along with one hundred and eighty seven sex-matched and age-matched healthy volunteers as the control group. For each patient, urticaria activity score was calculated and autologous serum skin test was done. Vitamin D metabolic statue was measured in serum as 25 hydroxyvitamin D using enzyme immunoassay method. Patients with chronic idiopathic urticaria significantly showed lower levels of vitamin D. Vitamin D deficiency was significantly associated with increased susceptibility to chronic idiopathic urticaria. There was a significant positive correlation between vitamin D levels and urticaria activity score. This study showed that patients with chronic idiopathic urticaria had reduced levels of vitamin D, while vitamin D deficiency could increase susceptibility to chronic idiopathic urticaria.

Epidemiology of myelofibrosis, essential thrombocythemia, and polycythemia vera in the European Union.

PubMed

Moulard, Odile; Mehta, Jyotsna; Fryzek, Jon; Olivares, Robert; Iqbal, Usman; Mesa, Ruben A

2014-04-01

Primary myelofibrosis (PMF), essential thrombocythemia (ET), and polycythemia vera (PV) are BCR ABL-negative myeloproliferative neoplasms (MPN). Published epidemiology data are scarce, and multiple sources are needed to assess the disease burden. We assembled the most recent information available on the incidence and prevalence of myelofibrosis (MF), ET, and PV by conducting a structured and exhaustive literature review of the published peer-reviewed literature in EMBASE and by reviewing online documentation from disease registries and relevant health registries in European countries. The search was restricted to human studies written in English or French and published between January 1, 2000, and December 6, 2012. Eleven articles identified from EMBASE, three online hematology or oncology registries, and two Web-based databases or reports were used to summarize epidemiological estimates for MF, PV, and ET. The incidence rate of MF ranged from 0.1 per 100,000 per year to 1 per 100,000 per year. Among the various registries, the incidence of PV ranged from 0.4 per 100,000 per year to 2.8 per 100,000 per year, while the literature estimated the range of PV incidence to be 0.68 per 100,000 to 2.6 per 100,000 per year. The estimated incidence of ET was between 0.38 per 100,000 per year and 1.7 per 100,000 per year. While a few studies reported on the MPNs' prevalences, it is difficult to compare them as various types of prevalence were calculated (point prevalence vs. period prevalence) and standardization was made according to different populations (e.g., the world population and the European population). There is a wide variation in both prevalence and incidence estimates observed across European data sources. Carefully designed studies, with standardized definitions of MPNs and complete ascertainment of patients including both primary and secondary MFs, should be conducted so that estimates of the population aimed to receive novel treatments for these neoplasms are

Relation between adolescent idiopathic scoliosis and morphologic somatotypes.

PubMed

LeBlanc, R; Labelle, H; Rivard, C H; Poitras, B

1997-11-01

A prospective and controlled comparative study. To verify the difference in morphologic appearance between a group of adolescents with progressive adolescent idiopathic scoliosis and a control group of normal adolescents. In a previous retrospective study, the possibility of a relation between progressive adolescent idiopathic scoliosis and specific morphotypes was demonstrated. Fifty-two adolescent girls with progressive adolescent idiopathic scoliosis were compared with an age-matched control group of 62 unaffected girls using a classification technique based on morphologic somatotypes. Morphotypes were evaluated with standardized pre-established criteria based on Sheldon's technique. Patients with progressive adolescent idiopathic scoliosis showed significantly less mesomorphism (mean value of 0.88 +/- 0.51) than control girls (mean value of 1.72 +/- 0.52). Adolescent girls with progressive adolescent idiopathic scoliosis have a morphologic somatotype that is different from the normal adolescent population. Subjects with progressive adolescent idiopathic scoliosis are significantly less mesomorphic than control girls. This observation may be of value as a predictive factor for early identification of subjects with adolescent idiopathic scoliosis at greater risk of progression.

Perspective: Update on Idiopathic Intracranial Hypertension

PubMed Central

Bruce, Beau B.; Biousse, Valérie; Newman, Nancy J.

2011-01-01

Purpose Provide an update on various features of idiopathic intracranial hypertension. Design Perspective. Methods Selected articles on the epidemiology, clinical and imaging features, natural history, pathophysiology, and treatment of idiopathic intracranial hypertension were reviewed and interpreted in the context of the authors’ clinical and research experience. Results Idiopathic intracranial hypertension is primarily a disease of obese women of childbearing age, but it can affect patients of any weight, sex, and age. Although a relatively rare disorder, idiopathic intracranial hypertension’s associated costs in the U.S. entail hundreds of millions of dollars. Even following treatment, headaches are frequently persistent and may require the continued involvement of a neurologist. Quality of life reductions and depression are common among idiopathic intracranial hypertension patients. However, visual dysfunction, especially visual field abnormalities, represents the major morbidity of this disorder, and serial automated perimetry remains the primary mode of patient monitoring. Patients who are men, black, very obese, or anemic are at higher risk of visual loss. Vitamin A metabolism, adipose tissue as an actively secreting endocrine tissue, and cerebral venous abnormalities are areas of active study regarding idiopathic intracranial hypertension’s pathophysiology. Treatment studies show that lumbar puncture is a valuable treatment (in addition to its crucial diagnostic role) and that weight management is critical. However, open questions remain regarding the efficacy of acetazolamide, CSF diversion procedures, and cerebral venous stenting. Conclusions Many questions remain unanswered about idiopathic intracranial hypertension. Ongoing studies, especially an ongoing NIH-funded clinical trial of acetazolamide, should provide more insight into this important, yet poorly understood syndrome of isolated intracranial hypertension. PMID:21696699

Giant scrotal elephantiasis: an idiopathic case.

PubMed

Dianzani, C; Gaspardini, F; Persichetti, P; Brunetti, B; Pizzuti, A; Margiotti, K; Degener, A M

2010-01-01

Scrotal elephantiasis is very rare disease in industrialized countries, where it is mainly due to surgery, irradiation or malignancies. It can be defined as idiopathic only when the possible congenital, infectious and compressive causes are excluded. We report a case of massive scrotal lymphoedema in an adult Caucasian patient, in Italy. He presented an extremely voluminous scrotal mass measuring 50 x 47 x 13 cm (weight 18 kg), which extended below his knees, invalidating all his daily activities. The patient was hospitalized in order to undergo to surgical treatment. Although genetic causes were searched and the possible role of infectious agents and compressive factors was evaluated, no etiology was ascertained. Histopathologic examination showed non-specific chronic inflammation, confirming the diagnosis of idiopathic elephantiasis. One year after surgical treatment, the patient is healthy without recurrence signs.

MR venography in idiopathic intracranial hypertension: unappreciated and misunderstood

PubMed Central

Higgins, J; Gillard, J; Owler, B; Harkness, K; Pickard, J

2004-01-01

Background: Venous sinus disease must be excluded before diagnosing idiopathic intracranial hypertension but is found only rarely in typical cases. Magnetic resonance venography (MRV) is the technique of choice for investigating this, and provides images that are diagnostic and easy to interpret. However, recent work using more invasive techniques has documented pressure gradients and stenoses in the lateral venous sinuses in many cases of idiopathic intracranial hypertension. Objective: To examine the reason for this discrepancy and to establish whether there are characteristic appearances on MRV in idiopathic intracranial hypertension that are routinely overlooked in clinical practice. Methods: MRVs from 20 patients with idiopathic intracranial hypertension were reviewed, unblinded, by two neuroradiologists, and their appearances rated for focal narrowings and signal gaps. A control group of 40 asymptomatic volunteers, matched for age and sex with the patient group, was recruited prospectively for MRV, and their scans rated in the same way. Results: The lateral sinuses presented a range of appearances with quite different distributions in the two groups (p<0.001). Bilateral lateral sinus flow gaps were seen in 13 of 20 patients with idiopathic intracranial hypertension and in none of 40 controls. Conclusions: A historical failure to use normal healthy controls to establish the boundaries between imaging artefact, normal anatomical variant, and disease means that the pathological significance of the different appearances of the lateral sinuses on MRV has not so far been appreciated. PMID:15026510

Idiopathic burning mouth syndrome: a common treatment-refractory somatoform condition responsive to ECT.

PubMed

McGirr, Alexander; Davis, Lindsay; Vila-Rodriguez, Fidel

2014-04-30

Somatic symptom disorders are common causes of disability and suffering, and can pose significant management challenges. Idiopathic burning mouth syndrome is a challenging somatic symptom disorder with relatively high prevalence, particularly among post-menopausal women. Here, we present the case of a woman with severe treatment refractory idiopathic burning mouth syndrome and comorbid major depressive disorder, who was successfully treated with bitemporal electroconvulsive therapy. This case highlights the potential effectiveness of electroconvulsive therapy in idiopathic burning mouth syndrome when other treatment options have been exhausted. Copyright © 2014 Elsevier Ireland Ltd. All rights reserved.

Idiopathic pulmonary fibrosis. A rare cause of scintigraphic ventilation-perfusion mismatch

DOE Office of Scientific and Technical Information (OSTI.GOV)

Pochis, W.T.; Krasnow, A.Z.; Collier, B.D.

1990-05-01

A case of idiopathic pulmonary fibrosis with multiple areas of mismatch on ventilation-perfusion lung imaging in the absence of pulmonary embolism is presented. Idiopathic pulmonary fibrosis is one of the few nonembolic diseases producing a pulmonary ventilation-perfusion mismatch. In this condition, chest radiographs may not detect the full extent of disease, and xenon-133 ventilation imaging may be relatively insensitive to morbid changes in small airways. Thus, when examining patients with idiopathic pulmonary fibrosis, one should be aware that abnormal perfusion imaging patterns without matching ventilation abnormalities are not always due to embolism. In this setting, contrast pulmonary angiography is oftenmore » needed for accurate differential diagnosis.« less

From bad to worse: when lung cancer complicates idiopathic pulmonary fibrosis.

PubMed

Strock, Stephen B; Alder, Jonathan K; Kass, Daniel J

2018-04-01

Patients with idiopathic pulmonary fibrosis have a significantly increased risk for the development of lung cancer. The morbidity and mortality of this disease combination are substantial, and, unfortunately, there are currently few data to help guide clinicians in its diagnosis and treatment. In a recent issue of this journal, Hwang et al presented one of the first studies to evaluate lung cancer in patients with idiopathic pulmonary fibrosis at the molecular level. They demonstrate variants in regulators of the cell cycle, which are known to be important in malignant transformation and may also be important in the pathogenesis of idiopathic pulmonary fibrosis. Further understanding of the pathogenic overlap between lung cancer and idiopathic pulmonary fibrosis could help point the direction to specific diagnostic modalities and targeted treatment of both conditions in the future. Copyright © 2017 Pathological Society of Great Britain and Ireland. Published by John Wiley & Sons, Ltd. Copyright © 2017 Pathological Society of Great Britain and Ireland. Published by John Wiley & Sons, Ltd.

The Natural History of Idiopathic Scoliosis During Growth: A Meta-Analysis.

PubMed

Di Felice, Francesca; Zaina, Fabio; Donzelli, Sabrina; Negrini, Stefano

2018-05-01

The aim of the study was to provide a meta-analysis of current literature concerning the natural history of idiopathic scoliosis during growth. A comprehensive search of Medline, Embase, And Scopus databases was conducted up to November 2016. Eligible works were prospective or retrospective studies that enrolled patients with infantile idiopathic scoliosis, juvenile idiopathic scoliosis, or adolescent idiopathic scoliosis, followed up without any treatment from the time of detection. A meta-analysis for proportion was performed. The following studies were grouped per diagnosis: infantile idiopathic scoliosis, juvenile idiopathic scoliosis, and adolescent idiopathic scoliosis. Of the 1797 citations screened, we assessed 61 full-text articles and included 13 of these (2301 participants). Three studies included infantile idiopathic scoliosis patients (347 participants), five studies included a mixed population of juvenile idiopathic scoliosis and adolescent idiopathic scoliosis (1330 participants), and five studies included adolescent idiopathic scoliosis patients only (624 participants). The random pooled estimated progression rate was 49% (95% confidence interval = 1%-97%) for infantile idiopathic scoliosis, 49% in a mixed group of patients affected by juvenile idiopathic scoliosis or adolescent idiopathic scoliosis (95% confidence interval = 19%-79%), and 42% in adolescent idiopathic scoliosis (95% confidence interval = 11%-73%). During growth, idiopathic scoliosis tends to progress in a high percentage of cases. The progression rate varies according to the age at diagnosis, with infantile scoliosis being the most unpredictable. There are many confounders, such as age, Risser sign and baseline Cobb angles that were not consistent among studies, making the data very heterogeneous.

Autoimmune myelofibrosis accompanied by Sjögren's syndrome in a 47, XXX/46, XX mosaic woman.

PubMed

Takahashi, Tohru

2014-01-01

This report describes a patient with autoimmune myelofibrosis accompanied by Sjögren's syndrome (SS). A 36-year-old woman was admitted due to petechiae, purpura, gingival bleeding, dyspnea on exertion, and a lack of concentration. She had pancytopenia and was diagnosed with SS. A bone marrow study showed hypercellular marrow with reticulin fibrosis. Lymphocytic infiltrates and aggregates composed of a mixture of T and B cells in the marrow were also observed. A chromosomal analysis of the marrow cells showed 47, XXX and an analysis of peripheral lymphocytes revealed 47, XXX/46, XX mosaic results. The patient's cytopenia resolved following treatment with oral prednisolone.

Idiopathic Hypersomnia: A Study of 77 Cases

PubMed Central

Anderson, Kirstie N.; Pilsworth, Samantha; Sharples, Linda D.; Smith, Ian E.; Shneerson, John M.

2007-01-01

Study Objectives: To review the clinical and polysomnographic characteristics of idiopathic hypersomnia as well as the long-term response to treatment. Setting: The Respiratory Support and Sleep Centre at Papworth Hospital, Cambridge, UK. Patients and Design: A large database of more than 6000 patients with sleep disorders was reviewed. A retrospective study of the clinical and polysomnographic characteristics of 77 patients with idiopathic hypersomnia was performed. Comparison with a similar group of patients with narcolepsy was performed. The response to drug treatment was assessed in 61 patients over a mean follow-up of 3.8 years. Measurements and Results: Idiopathic hypersomnia was 60% as prevalent as narcolepsy. Comparison with a similar group of patients with narcolepsy showed that those with idiopathic hypersomnia were more likely to have prolonged unrefreshing daytime naps, a positive family history, increased slow-wave sleep, and a longer sleep latency on the Multiple Sleep Latency Test. The results of the Multiple Sleep Latency Test were not helpful in predicting disease severity or treatment response. The clinical features were heterogeneous and of variable severity. The majority of patients with idiopathic hypersomnia had symptoms that remained stable over many years, but 11% had spontaneous remission, which was never seen in narcolepsy. Two thirds of patients with idiopathic hypersomnolence had a sustained improvement in daytime somnolence with medication, although a third needed high doses or combinations of drugs. Conclusions: Idiopathic hypersomnolence has characteristic clinical and polysomnographic features but the prolonged latency on the Multiple Sleep Latency Test raises doubt about the validity of this test within the current diagnostic criteria. The disease often responds well to treatment and a substantial minority of patients appear to spontaneously improve. Citation: Anderson KN; Pilsworth S; Sharples LD; Smith IE; Shneerson JM. Idiopathic

Significance of Myositis Autoantibody in Patients with Idiopathic Interstitial Lung Disease

PubMed Central

Song, Ju Sun; Hwang, Jiwon; Cha, Hoon-Suk; Jeong, Byeong-Ho; Suh, Gee Young; Chung, Man Pyo

2015-01-01

Purpose 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. Materials and Methods 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. Results 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. Conclusion 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. PMID:25837172

Significance of myositis autoantibody in patients with idiopathic interstitial lung disease.

PubMed

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.

Radiographic and MRI characteristics of lumbar disseminated idiopathic spinal hyperostosis and spondylosis deformans in dogs.

PubMed

Togni, A; Kranenburg, H J C; Morgan, J P; Steffen, F

2014-07-01

To evaluate clinical signs, describe lesions and differences in the magnetic resonance imaging appearance of spinal new bone formations classified as disseminated idiopathic spinal hyperostosis and/or spondylosis deformans on radiographs and compare degeneration status of the intervertebral discs using the Pfirrmann scale. Retrospective analysis of 18 dogs presented with spinal disorders using information from radiographic and magnetic resonance imaging examinations. All dogs were found to be affected with both disseminated idiopathic spinal hyperostosis and spondylosis deformans. Neurological signs due to foraminal stenosis associated with disseminated idiopathic spinal hyperostosis were found in two dogs. Spondylosis deformans was associated with foraminal stenosis and/or disc protrusion in 15 cases. The Pfirrmann score on magnetic resonance imaging was significantly higher in spondylosis deformans compared with disseminated idiopathic spinal hyperostosis and signal intensity of new bone due to disseminated idiopathic spinal hyperostosis was significantly higher compared to spondylosis deformans. Differences between disseminated idiopathic spinal hyperostosis and spondylosis deformans found on magnetic resonance imaging contribute to an increased differentiation between the two entities. Clinically relevant lesions in association with disseminated idiopathic spinal hyperostosis were rare compared to those seen with spondylosis deformans. © 2014 British Small Animal Veterinary Association.

IDIOPATHIC MULTIFOCAL CHOROIDITIS PRESENTING WITH A TRANSIENT PERIPAPILLARY WHITE RING.

PubMed

Gattoussi, Sarra; Ghadiali, Quraish; Dolz-Marco, Rosa; Freund, K Bailey

2017-11-22

We describe with multimodal imaging the presentation and follow-up for a patient with idiopathic multifocal choroiditis and a transient peripapillary white ring. Case report. A 39-year-old Asian woman was initially seen for an evaluation of lattice degeneration in 2015. Her medical history included Graves disease and psoriasis. Best-corrected visual acuity was 20/25 in her right eye and 20/25 in her left eye. Ultra-widefield fundus autofluorescence imaging showed a curvilinear hyperautofluorescent line in her right eye. One year later, the patient returned complaining of floaters in her right eye for 1 month. Her visual acuity was unchanged. Funduscopic examination showed new inflammatory yellowish lesions in the right eye corresponding to hyperreflective sub-retinal pigment epithelium lesions on structural spectral domain optical coherence tomography. Fluorescein angiography showed corresponding late staining of these active lesions. Late-phase indocyanine green angiography showed multiple nummular hypocyanescent dots. Ultra-widefield fundus autofluorescence showed large areas of hyperautofluorescence. The patient was started on a 60-mg oral prednisone taper and demonstrated subsequent regression of the inflammatory lesions. Ten months later, the patient returned emergently with complaints of floaters in both eyes for 2 days and a new temporal scotoma in her left eye. Funduscopic examination demonstrated a white ring around the optic nerve of the left eye corresponding to a hyperautofluorescent lesion. Ultra-widefield fundus autofluorescence showed new areas of hyperautofluorescence in both eyes. Structural spectral domain optical coherence tomography showed new sub-retinal pigment epithelium inflammatory lesions and a disruption of the ellipsoid zone in both eyes. The patient was again treated with a 60-mg oral prednisone taper and demonstrated subsequent restoration of the ellipsoid zone. To our knowledge, this is the first report of a transient annular white

McArdle's disease: A differential diagnosis of idiopathic toe walking.

PubMed

Pomarino, David; Martin, Stephan; Pomarino, Andrea; Morigeau, Stefanie; Biskup, Saskia

2018-06-01

Idiopathic toe walking (ITW) is a pathological gait pattern in which children walk on their tip toes with no orthopedic or neurological reason. Physiological characteristics of the gastrocnemius muscles, the Achilles tendon, and the foot of toe walkers differ from subjects with a plantigrade walking pattern. McArdle's disease is characterized by the inability to break down muscle glycogen. It is an autosomal-recessive condition, characterized by low exercise tolerance, muscular atrophy at the shoulder girdle, episodes of myoglobinuria after vigorous physical activities and the occurrence of the second wind phenomenon. The aim of this review is to present the case studies of two subjects who were originally diagnosed as idiopathic toe walkers, but were then found to have McArdle's disease. This review will describe some physical characteristics that distinguish McArdle´s disease from Idiopathic toe walkers.

Idiopathic hypersomnia: a study of 77 cases.

PubMed

Anderson, Kirstie N; Pilsworth, Samantha; Sharples, Linda D; Smith, Ian E; Shneerson, John M

2007-10-01

To review the clinical and polysomnographic characteristics of idiopathic hypersomnia as well as the long-term response to treatment. The Respiratory Support and Sleep Centre at Papworth Hospital, Cambridge, UK. A large database of more than 6000 patients with sleep disorders was reviewed. A retrospective study of the clinical and polysomnographic characteristics of 77 patients with idiopathic hypersomnia was performed. Comparison with a similar group of patients with narcolepsy was performed. The response to drug treatment was assessed in 61 patients over a mean follow-up of 3.8 years. Idiopathic hypersomnia was 60% as prevalent as narcolepsy. Comparison with a similar group of patients with narcolepsy showed that those with idiopathic hypersomnia were more likely to have prolonged unrefreshing daytime naps, a positive family history, increased slow-wave sleep, and a longer sleep latency on the Multiple Sleep Latency Test. The results of the Multiple Sleep Latency Test were not helpful in predicting disease severity or treatment response. The clinical features were heterogeneous and of variable severity. The majority of patients with idiopathic hypersomnia had symptoms that remained stable over many years, but 11% had spontaneous remission, which was never seen in narcolepsy. Two thirds of patients with idiopathic hypersomnolence had a sustained improvement in daytime somnolence with medication, although a third needed high doses or combinations of drugs. Idiopathic hypersomnolence has characteristic clinical and polysomnographic features but the prolonged latency on the Multiple Sleep Latency Test raises doubt about the validity of this test within the current diagnostic criteria. The disease often responds well to treatment and a substantial minority of patients appear to spontaneously improve.

The Clinical Phenotype of Idiopathic Rapid Eye Movement Sleep Behavior Disorder at Presentation: A Study in 203 Consecutive Patients

PubMed Central

Fernández-Arcos, Ana; Iranzo, Alex; Serradell, Mónica; Gaig, Carles; Santamaria, Joan

2016-01-01

Objective: To describe the clinical phenotype of idiopathic rapid eye movement (REM) sleep behavior disorder (IRBD) at presentation in a sleep center. Methods: Clinical history review of 203 consecutive patients with IRBD identified between 1990 and 2014. IRBD was diagnosed by clinical history plus video-polysomnographic demonstration of REM sleep with increased electromyographic activity linked to abnormal behaviors. Results: Patients were 80% men with median age at IRBD diagnosis of 68 y (range, 50–85 y). In addition to the already known clinical picture of IRBD, other important features were apparent: 44% of the patients were not aware of their dream-enactment behaviors and 70% reported good sleep quality. In most of these cases bed partners were essential to convince patients to seek medical help. In 11% IRBD was elicited only after specific questioning when patients consulted for other reasons. Seven percent did not recall unpleasant dreams. Leaving the bed occurred occasionally in 24% of subjects in whom dementia with Lewy bodies often developed eventually. For the correct diagnosis of IRBD, video-polysomnography had to be repeated in 16% because of insufficient REM sleep or electromyographic artifacts from coexistent apneas. Some subjects with comorbid obstructive sleep apnea reported partial improvement of RBD symptoms following continuous positive airway pressure therapy. Lack of therapy with clonazepam resulted in an increased risk of sleep related injuries. Synucleinopathy was frequently diagnosed, even in patients with mild severity or uncommon IRBD presentations (e.g., patients who reported sleeping well, onset triggered by a life event, nocturnal ambulation) indicating that the development of a neurodegenerative disease is independent of the clinical presentation of IRBD. Conclusions: We report the largest IRBD cohort observed in a single center to date and highlight frequent features that were not reported or not sufficiently emphasized in previous

Idiopathic gingival fibromatosis rehabilitation: a case report with two-year followup.

PubMed

Jayachandran, Mahesh; Kapoor, Shalini; Mahesh, Rethi

2013-01-01

Gingival enlargements are quite common and may be either inflammatory, noninflammatory, or a combination of both. Gingival hyperplasia is a bizarre condition causing esthetic, functional, psychological, and masticatory disturbances of the oral cavity. Causes of gingival enlargement can be due to plaque accumulation, due to poor oral hygiene, inadequate nutrition, or systemic hormonal stimulation (Bakaeen and Scully, 1998). It can occur as an isolated disease or as part of a syndrome or chromosomal abnormality. A progressive fibrous enlargement of the gingiva is a facet of idiopathic fibrous hyperplasia of the gingiva (Carranza and Hogan, 2002; Gorlin et al., 1976). It is described variously as fibromatosis gingivae, gingivostomatitis, hereditary gingival fibromatosis, idiopathic fibromatosis, familial elephantiasis, and diffuse fibroma. We present a case of idiopathic gingival fibromatosis with its multidisciplinary approach of management.

Assessment of sensorimotor control in adults with surgical correction for idiopathic scoliosis.

PubMed

Pialasse, Jean-Philippe; Mercier, Pierre; Descarreaux, Martin; Simoneau, Martin

2016-10-01

This study aims at verifying if impaired sensorimotor control observed in adolescents and young adults with scoliosis is also present in adult patients who underwent surgery to reduce their spine deformation. The study included ten healthy adults and ten adults with idiopathic scoliosis who underwent surgery to reduce their spine deformation. Galvanic vestibular stimulation was delivered to assess sensorimotor control. Vertical forces under each foot and horizontal displacement of the upper body were measured before, during and after stimulation. Balance control was assessed by calculating the root mean square values of kinematic and kinetic variables. The amplitude of the vestibular-evoked postural response was 3.4 % (0.8-6.0 %) and 4.5 % (-0.4 to 9.5 %) of the maximal range of motion. Therefore, spine surgery did not limit the postural response. Patients with idiopathic scoliosis exhibited larger body sway than the healthy controls during and immediately after vestibular stimulation. The maximal normalized lateral displacement of the body was 0.85 and 0.40 cm/m and maximal normalized vertical force was 0.78 vs. 0.39 N/kg, for idiopathic scoliosis and healthy groups, respectively. This result suggests that dysfunctional sensorimotor integration is still present even in adult idiopathic scoliosis that underwent spine deformation correction.

Recurrent urethral obstruction secondary to idiopathic renal hematuria in a puppy.

PubMed

Hawthorne, J C; deHaan, J J; Goring, R L; Randall, S R; Kennedy, F S; Stone, E; Zimmerman, K M; McAbee, S W

1998-01-01

A seven-month-old, neutered male Catahoula leopard dog cross was presented for recurrent urethral obstruction and intermittent hematuria. After exploratory laparotomy and ventral cystotomy, unilateral idiopathic renal hematuria was diagnosed based on gross observation of hematuria from the left ureteral catheter. The hematuria resolved after nephrectomy of the left kidney. The histopathological diagnosis was multifocal, acute congestion and intratubular hemorrhage. Although idiopathic renal hematuria has been described previously, this puppy was unique because the hematuria caused recurrent, complete urethral obstruction.

Natural history of idiopathic abducens nerve paresis in a young adult.

PubMed

Hussaindeen, Jameel Rizwana; Mani, Revathy; Rakshit, Archayeeta; Ramasubramanian, Srikanth; Vittal Praveen, Smitha

2016-01-01

The natural history of idiopathic abducens nerve paresis and the role of conservative management such as vision training during the recovery process is not well documented in the literature to the best of our knowledge. This case report presents the natural recovery process of idiopathic abducens nerve paresis in a young adult and the role of vision therapy in the recovery process. Copyright © 2016 Spanish General Council of Optometry. Published by Elsevier España, S.L.U. All rights reserved.

[Idiopathic facial paralysis in children].

PubMed

Achour, I; Chakroun, A; Ayedi, S; Ben Rhaiem, Z; Mnejja, M; Charfeddine, I; Hammami, B; Ghorbel, A

2015-05-01

Idiopathic facial palsy is the most common cause of facial nerve palsy in children. Controversy exists regarding treatment options. The objectives of this study were to review the epidemiological and clinical characteristics as well as the outcome of idiopathic facial palsy in children to suggest appropriate treatment. A retrospective study was conducted on children with a diagnosis of idiopathic facial palsy from 2007 to 2012. A total of 37 cases (13 males, 24 females) with a mean age of 13.9 years were included in this analysis. The mean duration between onset of Bell's palsy and consultation was 3 days. Of these patients, 78.3% had moderately severe (grade IV) or severe paralysis (grade V on the House and Brackmann grading). Twenty-seven patients were treated in an outpatient context, three patients were hospitalized, and seven patients were treated as outpatients and subsequently hospitalized. All patients received corticosteroids. Eight of them also received antiviral treatment. The complete recovery rate was 94.6% (35/37). The duration of complete recovery was 7.4 weeks. Children with idiopathic facial palsy have a very good prognosis. The complete recovery rate exceeds 90%. However, controversy exists regarding treatment options. High-quality studies have been conducted on adult populations. Medical treatment based on corticosteroids alone or combined with antiviral treatment is certainly effective in improving facial function outcomes in adults. In children, the recommendation for prescription of steroids and antiviral drugs based on adult treatment appears to be justified. Randomized controlled trials in the pediatric population are recommended to define a strategy for management of idiopathic facial paralysis. Copyright © 2015 Elsevier Masson SAS. All rights reserved.

Interphase FISH screening for the LCR-mediated common rearrangement of isochromosome 17q in primary myelofibrosis.

PubMed

Bien-Willner, Gabriel A; Stankiewicz, Paweł; Lupski, James R; Northup, Jill K; Velagaleti, Gopalrao V N

2005-08-01

Non-allelic homologous recombination (NAHR) between low-copy repeats (LCRs) has been implicated recently in somatic rearrangements including isochromosome i(17q), which is associated with hematologic malignancies as well as solid tumors. In hematological malignancies, the most common i(17q) breakpoint results from LCR-mediated NAHR, which creates a dicentric chromosome, idic(17)(p11.2). We report an elderly patient who presented with primary myelofibrosis (MF) with myeloid metaplasia (MMM), associated with idic(17)(p11.2) as the sole chromosomal abnormality, making this the first idic(17)(p11.2) myeloproliferative case reported in which the breakpoints are mapped to the breakpoint cluster region in proximal 17p. The rearrangement breakpoint maps to the previously defined LCR cluster, further suggesting that the genomic architecture of proximal 17p may be responsible for the formation of the majority of i(17q) cases. We describe our development of a rapid screening test using interphase FISH to detect idic(17)(p11.2), discuss the potential prognostic value of this molecular diagnostic test, and examine the relevance of LCR-mediated NAHR to common rearrangements in neoplasms. Copyright (c) 2005 Wiley-Liss, Inc.

Ironing out the details of iron overload in myelofibrosis: Lessons from myelodysplastic syndromes.

PubMed

Carreau, Nicole; Tremblay, Douglas; Savona, Michael; Kremyanskaya, Marina; Mascarenhas, John

2016-09-01

Myelofibrosis (MF) and myelodysplastic syndrome (MDS) are hematopoietic stem cell disorders associated with cytopenias and red blood cell (RBC) transfusion dependence. Iron overload (IO) as a consequence of RBC transfusion dependence and its effect on outcomes in MF has not been formally studied. However, IO is a demonstrated poor prognostic feature in patients with MDS and congenital or acquired chronic anemias. Evidence that iron chelation therapy (ICT) reduces the deleterious effects of IO in MDS has led to speculation of benefit in MF. However, data supporting the use of ICT in MF is lacking. Neither disease has clear consensus guidelines for the use of ICT. Moreover, JAK-STAT inhibition, the cornerstone of MF treatment, often contributes to anemia and transfusional requirements. This manuscript reviews known and potential implications of IO in MF and highlights the need for prospective clinical investigations of ICT with consideration in the setting of JAK2 inhibitor therapy. Copyright © 2016 Elsevier Ltd. All rights reserved.

DNA Methylation as an Epigenetic Factor in the Development and Progression of Polycythemia Vera

DTIC Science & Technology

2008-10-01

vera and idiopathic myelofibrosis. Pathol Biol ( Paris ). 2001;49:164-166. 2. Spivak JL. Diagnosis of the myeloproliferative disorders: resolving...leukemia cell lines with different cellular origin (myeloid cell lines KG1, KG1a, HEL, K562, and TF1; T lymphoid cell lines CEM and JTAg; and B lymphoid...in the cell lines of lymphoid origin versus myeloid leukemia cell lines and a GM-CSF- Services Email this article to a friend Download to

Biochemical analysis of tunica vaginalis fluid in patients with or without idiopathic hydroceles.

PubMed

Madlala, T S; Rencken, R K; Bornman, M S; Reif, S; Joubert, H F; Van der Merwe, C A

1994-10-01

To establish the differences, if any, between the biochemical composition of idiopathic hydrocele fluid and the fluid normally present in the tunica vaginalis. Aspiration and sclerotherapy of 37 idiopathic hydroceles from patients who presented to this urology clinic were performed. The biochemical content of the fluid was compared with that of the tunica vaginalis fluid from a small group of controls (n = 8), taken from patients undergoing orchidectomy for carcinoma of the prostate. Differences in several measurements were recorded; in particular, there were significantly higher concentrations of calcium, albumin, total protein and creatine-kinase in the hydrocele group. The levels of potassium, aspartate transaminase, alanine transaminase and alkaline phosphatase were significantly lower in the hydrocele group. Whether these differences have a role in the causation of an idiopathic hydrocele is, at this stage, speculative. A similar study on a larger scale would probably be more conclusive.

Clinical course and outcome of essential thrombocythemia and prefibrotic myelofibrosis according to the revised WHO 2016 diagnostic criteria

PubMed Central

Rumi, Elisa; Boveri, Emanuela; Bellini, Marta; Pietra, Daniela; Ferretti, Virginia V.; Sant’Antonio, Emanuela; Cavalloni, Chiara; Casetti, Ilaria C.; Roncoroni, Elisa; Ciboddo, Michele; Benvenuti, Pietro; Landini, Benedetta; Fugazza, Elena; Troletti, Daniela; Astori, Cesare; Cazzola, Mario

2017-01-01

The recently revised World Health Organization (WHO) classification of myeloid neoplasms recognizes prefibrotic myelofibrosis (prePMF) as a distinct entity, characterized by well-defined histopathologic features together with minor clinical criteria (leukocytes, anemia, increased LDH, splenomegaly). The aim of the study was to examine the clinical relevance of distinguishing prePMF from essential thrombocythemia (ET). We identified in our database all patients affected with ET, prePMF and primary myelofibrosis (PMF) diagnosed according to 2008 WHO criteria with a bone marrow fibrosis grade 0-1 at diagnosis and one DNA sample to define the mutational status. The bone marrow morphology of all 404 identified patients was reviewed by an expert pathologist and patients were reclassified according to the 2016 WHO criteria. After reclassification, our cohort included 269 ET, 109 prePMF, and 26 myeloproliferative neoplasm unclassificable. In comparison with ET, patients with prePMF had higher leukocyte count, lower hemoglobin level, higher platelet count, higher LDH values, and higher number of circulating CD34-positive cells; they showed more frequently splenomegaly (all P values < ·001). CALR mutations were more frequent in prePMF than in ET (35·8% vs 17·8%, P < ·001). PrePMF patients had shorter overall survival (P < ·001) and a trend to a higher incidence of leukemic evolution (P ·067) compared to ET patients, while they did not differ in terms of thrombotic and bleeding complications. In conclusion, ET and prePMF diagnosed according to 2016 WHO criteria are two entities with a different clinical phenotype at diagnosis and a different clinical outcome. PMID:29254200

Perioperative Care of a Patient with Refractory Idiopathic Thrombocytopenic Purpura Undergoing Total Knee Arthroplasty

PubMed Central

Gudimetla, Veera; Stewart, Andrew; Luscombe, Karen L; Charalambous, Charalambos P

2012-01-01

Idiopathic thrombocytopenic purpura (ITP) is an autoimmune disorder leading to low platelet count and an increased risk of bleeding. Major joint replacement surgery in a patient with ITP can be associated with severe postoperative bleeding. We present our experience of perioperative management in a patient with severe refractory chronic idiopathic thrombocytopenic purpura who successfully underwent a cemented total knee replacement. PMID:23269964

Managing side effects of JAK inhibitors for myelofibrosis in clinical practice.

PubMed

Saeed, Iram; McLornan, Donal; Harrison, Claire N

2017-07-01

Myelofibrosis (MF) is characterized by bone marrow fibrosis, abnormalities in peripheral counts, extramedullary hematopoiesis, splenomegaly and an increased risk of transformation to acute myeloid leukaemia. The disease course is often heterogeneous and management can range from observation alone through to allogeneic stem cell transplantation. As of 2017, the only approved medication for MF remains the JAK Inhibitor (JAKi), ruxolitinib (Novartis Pharmaceuticals, Basel, Switzerland; Incyte, Wilmington, Detroit, USA) although several others have reached advanced stages of clinical trials. Areas covered: In this review, we focus on the management of both common and uncommon side effects arising from the use of currently approved and clinical trial JAKi. Most of the discussion concerns ruxolitinib although we also cover both pacritinib (CTI BioPharma) and momelotinib (Gilead Sciences, Foster City, California) which have been in recent large, multinational phase III trials. The various approaches to management of JAKi-related side effects are discussed - with particular emphasis to anaemia, thrombocytopaenia and infection risk. Expert commentary: JAK inhibitors are effective in many individuals with MF and have revolutionized the current treatment paradigm. The side effect profile, in the most, is predictable and manageable with high degrees of clinical surveillance and dose modifications.

Towards a new taxonomy of idiopathic orofacial pain.

PubMed

Woda, Alain; Tubert-Jeannin, Stéphanie; Bouhassira, Didier; Attal, Nadine; Fleiter, Bernard; Goulet, Jean-Paul; Gremeau-Richard, Christelle; Navez, Marie Louise; Picard, Pascale; Pionchon, Paul; Albuisson, Eliane

2005-08-01

There is no current consensus on the taxonomy of the different forms of idiopathic orofacial pain (stomatodynia, atypical odontalgia, atypical facial pain, facial arthromyalgia), which are sometimes considered as separate entities and sometimes grouped together. In the present prospective multicentric study, we used a systematic approach to help to place these different painful syndromes in the general classification of chronic facial pain. This multicenter study was carried out on 245 consecutive patients presenting with chronic facial pain (>4 months duration). Each patient was seen by two experts who proposed a diagnosis, administered a 111-item questionnaire and filled out a standardized 68-item examination form. Statistical processing included univariate analysis and several forms of multidimensional analysis. Migraines (n=37), tension-type headache (n=26), post-traumatic neuralgia (n=20) and trigeminal neuralgia (n=13) tended to cluster independently. When signs and symptoms describing topographic features were not included in the list of variables, the idiopathic orofacial pain patients tended to cluster in a single group. Inside this large cluster, only stomatodynia (n=42) emerged as a distinct homogenous subgroup. In contrast, facial arthromyalgia (n=46) and an entity formed with atypical facial pain (n=25) and atypical odontalgia (n=13) could only be individualised by variables reflecting topographical characteristics. These data provide grounds for an evidence-based classification of idiopathic facial pain entities and indicate that the current sub-classification of these syndromes relies primarily on the topography of the symptoms.

Juvenile idiopathic arthritis

MedlinePlus

... www.ncbi.nlm.nih.gov/pubmed/21452260 . Long AR, Rouster-Stevens KA. The role of exercise therapy ... nlm.nih.gov/pubmed/21131338 . Wu EY, Bryan AR, Rabinovich CE. Juvenile idiopathic arthritis. In: Kliegman RM, ...

Serial Derotational Casting in Idiopathic and Non-Idiopathic Progressive Early-Onset Scoliosis.

PubMed

Gussous, Yazeed M; Tarima, Sergey; Zhao, Shi; Khan, Safdar; Caudill, Angela; Sturm, Peter; Hammerberg, Kim W

2015-05-01

Serial derotational casting has been used as a definitive treatment or as delaying strategy in progressive idiopathic (IS) and non-idiopathic (NIS) early-onset scoliosis (EOS). Retrospective chart and radiographic review of patients who underwent serial casting for progressive EOS between 2005 and 2012 at a single institution. A total of 74 consecutive patients entered serial cast treatment. Twenty-eight were currently being casted, 30 completed cast treatment and were converted to thoracolumbosacral orthosis (TLSO), 9 were treated surgically, 6 were lost to follow-up, and 1 had no further treatment. The researchers diagnosed IS in 41 patients; 33 had NIS. At presentation the IS group had an average Cobb angle (CA) of 49° and a rib vertebral angle difference (RVAD) of 37°. The NIS group had a CA of 51° (p = .69) and RVAD of 37° (p = .94). In patients currently being casted, 19 IS patients had a decreased CA, from 47° to 27°. The 9 NIS patients had a decreased CA, from 62° to 57° (p = .0002). Cobb angle improvement was significantly better in IS (p = .0005). In the TLSO group the 17 IS patients had a decreased average CA, from 46° to 18°, after serial casting and the 13 NIS patients decreased CA from 42° to 32°. Patients with IS had better improvement in CA than the NIS group (p < .001). At last follow-up, this was reduced to 11° in the IS group and maintained at 32° in the NIS. In the IS group, 5 of 41 patients were converted to growth constructs, and 4 of 26 in the NIS group. Casting initiated before age 2 years yielded better curve correction for IS (p < .01) compared with NIS. Progressive idiopathic scoliosis patients had better curve correction with casting than NIS patients. Casting in IS patients before age 24 months yielded better curve correction. Patients who required surgery had a higher age and Cobb angle at presentation than those who transitioned to a TLSO. The surgical group was observed for a similar duration of time and there was no

Assessing idiopathic pulmonary fibrosis (IPF) with bronchoscopic OCT (Conference Presentation)

NASA Astrophysics Data System (ADS)

Hariri, Lida P.; Adams, David C.; Colby, Thomas V.; Tager, Andrew M.; Suter, Melissa J.

2016-03-01

Idiopathic pulmonary fibrosis (IPF) is a progressive, fatal form of fibrotic lung disease, with a 3 year survival rate of 50%. Diagnostic certainty of IPF is essential to determine the most effective therapy for patients, but often requires surgery to resect lung tissue and look for microscopic honeycombing not seen on chest computed tomography (CT). Unfortunately, surgical lung resection has high risks of associated morbidity and mortality in this patient population. We aim to determine whether bronchoscopic optical coherence tomography (OCT) can serve as a novel, low-risk paradigm for in vivo IPF diagnosis without surgery or tissue removal. OCT provides rapid 3D visualization of large tissue volumes with microscopic resolutions well beyond the capabilities of CT. We have designed bronchoscopic OCT catheters to effectively and safely access the peripheral lung, and conducted in vivo peripheral lung imaging in patients, including those with pulmonary fibrosis. We utilized these OCT catheters to perform bronchoscopic imaging in lung tissue from patients with pulmonary fibrosis to determine if bronchoscopic OCT could successfully visualize features of IPF through the peripheral airways. OCT was able to visualize characteristic features of IPF through the airway, including microscopic honeycombing (< 1 mm diameter) not visible by CT, dense peripheral fibrosis, and spatial disease heterogeneity. These findings support the potential of bronchoscopic OCT as a minimally-invasive method for in vivo IPF diagnosis. However, future clinical studies are needed to validate these findings.

Introversion, the prevalent trait of adolescents with idiopathic scoliosis: an observational study.

PubMed

D'Agata, Elisabetta; Sánchez-Raya, Judith; Bagó, Juan

2017-01-01

A large number of studies about adolescents with idiopathic scoliosis focus on health-related quality of life (HRQOL). However, only a few articles aim at evaluating the personality of these patients. Therefore, the purpose of the present research is to assess the personality traits of adolescents with idiopathic scoliosis and their relationship with HRQOL.Our hypothesis is that adolescents with idiopathic scoliosis present the principal personality trait of introversion, defined as self-reliance and inhibition in social relationships. This was a cross-sectional study. The examined group consisted of 43 patients (only 4 boys), mean age = 14.3 (SD = 2.23). On the day of the visit, HRQOL tools (Scoliosis Research Society-22 Questionnaire (SRS-22) and Trunk Appearance Perception Scale (TAPS)) and a personality test (16 Personality Factors-Adolescent Personality Questionnaire (16PF-APQ)) were completed; in addition, a posterior-anterior radiography was performed. Correlations among demographic and medical data and HRQOL and personality tests were assessed. Results for SRS-22 were as follows: Function 4.5 (SD = .4), Pain 4.3 (SD = .5), Self-image 3.6 (SD = .7), Mental Health 3.8. (SD = .7), and Subtotal 4.2 (SD = .7). Mean TAPS was 3.5 (SD = .6).In personality, the lowest values were assessed for Extroversion ( M  = 29.4, SD = 24.7) and Self-reliance ( M  = 71, SD = 25.3).Independence was negatively related to Self-image ( r  = -.51), Mental Health ( r  = -.54), and Subtotal SRS-22 ( r  = -.60) ( p  < .01). Adolescents with idiopathic scoliosis presented a common style of personality, characterized by social inhibition (introversion), preference for staying alone, and being self-sufficient (self-reliance).Specific programs in promoting social abilities may help adolescent patients with idiopathic scoliosis in finding a way to express themselves and to become more sociable. Correlational studies between personality and HRQOL need to be

Idiopathic Chronic Parotitis: Imaging Findings and Sialendoscopic Response.

PubMed

Heineman, Thomas E; Kacker, Ashutosh; Kutler, David I

2015-01-01

The purpose of this study was to correlate imaging and sialendoscopic findings to therapeutic response in patients with idiopathic chronic parotitis. We retrospectively reviewed 122 consecutive sialendoscopies performed in an academic medical center by two surgeons between 2008 and 2013. Forty-one (34%) and 54 (44%) patients were excluded on the basis of having parotid or submandibular sialolith, respectively. Nineteen cases were included in the study with idiopathic chronic parotitis. There was a median follow-up of 5 months. Computed tomography (CT) imaging had a sensitivity and specificity of 80.0 and 71.4%, respectively, for predicting abnormal findings on sialendoscopy, while magnetic resonance imaging (MRI) had 100% accuracy in a small set of cases. In glands with noticeable pathology present on preoperative imaging or sialendoscopy, 11 out of 12 glands (92%) treated experienced symptomatic improvement, while 3 out of 7 glands (43%) without pathology on imaging or endoscopy experienced symptomatic improvement (p = 0.038). Sialendoscopy for the treatment of idiopathic chronic parotid disease can improve pain and swelling with a higher frequency of success in patients with abnormalities noted on endoscopy. CT and MRI have a moderate degree of accuracy in predicting which patients will benefit from therapeutic sialendoscopy. © 2015 S. Karger AG, Basel.

Intraspinal anomalies in early-onset idiopathic scoliosis.

PubMed

Pereira, E A C; Oxenham, M; Lam, K S

2017-06-01

In the United Kingdom, lower incidences of intraspinal abnormalities in patients with early onset idiopathic scoliosis have been observed than in studies in other countries. We aimed to determine the rates of these abnormalities in United Kingdom patients diagnosed with idiopathic scoliosis before the age of 11 years. This retrospective study of patients attending an urban scoliosis clinic identified 71 patients satisfying a criteria of: clinical diagnosis of idiopathic scoliosis; age of onset ten years and 11 months or less; MRI screening for intraspinal abnormalities. United Kingdom census data combined with patient referral data was used to calculate incidence. Mean age at diagnosis was six years with 39 right-sided and 32 left-sided curves. Four patients (5.6%) were found to have intraspinal abnormalities on MRI. These consisted of: two combined Arnold-Chiari type 1 malformations with syrinx; one syrinx with a low lying conus; and one isolated syrinx. Overall annual incidence of early onset idiopathic scoliosis was one out of 182 000 (0.0006%). This study reports the lowest rates to date of intraspinal anomalies in patients with early onset idiopathic scoliosis, adding to knowledge regarding current incidences of these abnormalities as well as any geographical variation in the nature of the disease. Cite this article: Bone Joint J 2017;99-B:829-33. ©2017 The British Editorial Society of Bone & Joint Surgery.

Idiopathic slow transit constipation and megacolon are not associated with neurturin mutations.

PubMed

Chen, B; Knowles, C H; Scott, M; Anand, P; Williams, N S; Milbrandt, J; Tam, P K H

2002-10-01

Chronic idiopathic slow-transit constipation (ISTC) and idiopathic megacolon (IMC) are early-onset gastrointestinal motility disorders of unknown aetiology. The gene encoding the neurotrophic factor neurturin may be a candidate for these disorders, as neurturin-deficient mice have a similar enteric phenotype. In the present study, we tested this hypothesis. Genomic DNA from 26 cases of chronic idiopathic STC [with a family history of constipation in 15 (58%) and Hirschsprung's disease in two (8%)], and five cases of IMC [two familial (40%)] was screened by direct DNA sequencing using the fluorescent dideoxy terminator method. Results were compared with published sequence data and 24 control DNAs. Our results revealed several previously unreported common sequence polymorphisms, but overall frequencies were comparable between patients and controls. We conclude that mutation of neurturin is not a frequent cause of ISTC or IMC.

[Juvenile idiopathic arthritis with dry synovitis: clinical case and review of literature].

PubMed

Dias, Bruno Leonardo Scofano; Imamura, Erica Ueno; Izumi, Ana Paula; Pinheiro, Lúcia Virgínia de Melo; Borigato, Eliana Valverde Magro

2009-01-01

Juvenile idiopathic arthritis is a term that encompasses all forms of arthritis that begin before the age of 16 years, persist for more than 6 weeks and are of unknown cause. Dry synovitis is still not completely understood nor commonly described. It is associated with juvenile idiopathic arthritis and must be considered in patients with minimal swelling but pain and stiffness along with flexion contractures as well as other evidence of an inflammatory process (lab changes and/or other symptoms, such as uveitis or rash), and often follow a destructive course. The authors present a case of a brazilian child with a rheumatoid factor- negative polyarthritis compatible with the subtype dry synovitis, who had great clinical and functional improvement after participation in rehabilitation activities and beginning of pharmacological treatment usually used in Juvenile idiopathic arthritis, including immunossuppressive therapy.

Angiopoietin-2 polymorphism in women with idiopathic recurrent miscarriage.

PubMed

Pietrowski, Detlef; Tempfer, Clemens; Bettendorf, Hertha; Bürkle, Bernd; Nagele, Fritz; Unfried, Gertrud; Keck, Christoph

2003-10-01

To investigate the relationship between idiopathic recurrent miscarriage and a polymorphism of the gene encoding for angiopoietin-2 (ANGPT2), an autochthonous modulator of angiogenesis during pregnancy. Prospective case control study. Academic research institution. One hundred thirty-one women with a history of three or more consecutive pregnancy losses before 20 weeks' gestation, and 125 healthy, postmenopausal controls with at least two live births and no history of pregnancy loss. Peripheral venous puncture. Polymerase chain reaction and restriction fragment length polymorphism analysis were performed to identify the different ANGPT2 alleles. No association between mutant (mt) allele and the occurrence of idiopathic recurrent miscarriage was found. Between women with primary and secondary idiopathic recurrent miscarriage, no statistically significant differences with respect to allele frequencies were observed. This is the first report on the ANGPT2 gene polymorphism in women with idiopathic recurrent miscarriage, demonstrating that the investigated polymorphism is not associated with idiopathic recurrent miscarriage in a white population.

Discrete potentials guided radiofrequency ablation for idiopathic outflow tract ventricular arrhythmias.

PubMed

Liu, Enzhao; Xu, Gang; Liu, Tong; Ye, Lan; Zhang, Qitong; Zhao, Yanshu; Li, Guangping

2015-03-01

Discrete potentials (DPs) have been recorded and targeted as the site of ablation of the outflow tract arrhythmias. The aim of the present study was to investigate the significance of DPs with respect to mapping and ablation for idiopathic outflow tract premature ventricular contractions (PVCs) or ventricular tachycardias (VTs). Seventeen consecutive patients with idiopathic right or left ventricular outflow tract PVCs/VTs who underwent radiofrequency catheter ablation were included. Intracardiac electrograms during the mapping and ablation were analysed. During sinus rhythm, sharp high-frequency DPs that displayed double or multiple components were recorded following or buried in the local ventricular electrograms in all of the 17 patients, peak amplitude 0.51 ± 0.21 mV. The same potential was recorded prior to the local ventricular potential of the PVCs/VTs. Spontaneous reversal of the relationship of the DPs to the local ventricular electrogram during the arrhythmias was noted. The DPs were related to a region of low voltage showed by intracardiac high-density contact mapping. At the sites with DPs, lower unipolar and bipolar ventricular voltage of sinus beats were noted compared with the adjacent regions without DPs (unipolar: 6.1 ± 1.8 vs. 8.3 ± 2.3 mV, P < 0.05; bipolar: 0.62 ± 0.45 vs. 1.03 ± 0.60 mV, P < 0.05). The targeted DPs were still present in 12 patients after successful elimination of the ectopies. Discrete potentials were not present in seven controls. Discrete potentials and related low-voltage regions were common in idiopathic outflow tract ventricular arrhythmias. Discrete potential- and substrate-guided ablation strategy will help to reduce the recurrence of idiopathic outflow tract arrhythmias. Published on behalf of the European Society of Cardiology. All rights reserved. © The Author 2014. For permissions please email: journals.permissions@oup.com.

Idiopathic Noncirrhotic Portal Hypertension: An Appraisal

PubMed Central

Lee, Hwajeong; Rehman, Aseeb Ur; Fiel, M. Isabel

2016-01-01

Idiopathic noncirrhotic portal hypertension is a poorly defined clinical condition of unknown etiology. Patients present with signs and symptoms of portal hypertension without evidence of cirrhosis. The disease course appears to be indolent and benign with an overall better outcome than cirrhosis, as long as the complications of portal hypertension are properly managed. This condition has been recognized in different parts of the world in diverse ethnic groups with variable risk factors, resulting in numerous terminologies and lack of standardized diagnostic criteria. Therefore, although the diagnosis of idiopathic noncirrhotic portal hypertension requires clinical exclusion of other conditions that can cause portal hypertension and histopathologic confirmation, this entity is under-recognized clinically as well as pathologically. Recent studies have demonstrated that variable histopathologic entities with different terms likely represent a histologic spectrum of a single entity of which obliterative portal venopathy might be an underlying pathogenesis. This perception calls for standardization of the nomenclature and formulation of widely accepted diagnostic criteria, which will facilitate easier recognition of this disorder and will highlight awareness of this entity. PMID:26563701

Bilateral versus single lung transplant for idiopathic pulmonary fibrosis.

PubMed

Lehmann, Sven; Uhlemann, Madlen; Leontyev, Sergey; Seeburger, Joerg; Garbade, Jens; Merk, Denis R; Bittner, Hartmuth B; Mohr, Friedrich W

2014-10-01

It is unknown if uni- or bilateral lung transplant is best for treatment of usual idiopathic pulmonary fibrosis. We reviewed our single-center experience comparing both treatments. Between 2002 and 2011, one hundred thirty-eight patients at our institution underwent a lung transplant. Of these, 58 patients presented with idiopathic pulmonary fibrosis (56.9%) and were the focus of this study. Thirty-nine patients received a single lung transplant and 19 patients a bilateral sequential lung transplant. The mean patient age was 54 ± 10 years, and 69% were male. The intraoperative course was uneventful, save for 7 patients who needed extracorporeal membrane oxygenation support. Three patients had respiratory failure before the lung transplant that required mechanical ventilation and was supported by extracorporeal membrane oxygenation. Elevated pulmonary artery pressure > 40 mm Hg was identified as an independent predictor of early mortality by uni- and multivariate analysis (P = .01; OR 9.7). Using a Cox regression analysis, postoperative extracorporeal membrane oxyge-nation therapy (P = .01; OR 10.2) and the need for > 10 red blood cell concentrate during the first 72 hours after lung transplant (P = .01; OR 5.6) were independent predictors of long-term survival. Actuarial survival at 1 and 5 years was 65.6% and 55.3%, with no significant between-group differences (70.6% and 54.3%). Lung transplant is a safe and curative treatment for idiopathic pulmonary fibrosis. According to our results, unilateral lung transplant for idiopathic pulmonary fibrosis is an alternative to bilateral lung transplant and may affect the allocation process.

Comparison of CSF Distribution between Idiopathic Normal Pressure Hydrocephalus and Alzheimer Disease.

PubMed

Yamada, S; Ishikawa, M; Yamamoto, K

2016-07-01

CSF volumes in the basal cistern and Sylvian fissure are increased in both idiopathic normal pressure hydrocephalus and Alzheimer disease, though the differences in these volumes in idiopathic normal pressure hydrocephalus and Alzheimer disease have not been well-described. Using CSF segmentation and volume quantification, we compared the distribution of CSF in idiopathic normal pressure hydrocephalus and Alzheimer disease. CSF volumes were extracted from T2-weighted 3D spin-echo sequences on 3T MR imaging and quantified semi-automatically. We compared the volumes and ratios of the ventricles and subarachnoid spaces after classification in 30 patients diagnosed with idiopathic normal pressure hydrocephalus, 10 with concurrent idiopathic normal pressure hydrocephalus and Alzheimer disease, 18 with Alzheimer disease, and 26 control subjects 60 years of age or older. Brain to ventricle ratios at the anterior and posterior commissure levels and 3D volumetric convexity cistern to ventricle ratios were useful indices for the differential diagnosis of idiopathic normal pressure hydrocephalus or idiopathic normal pressure hydrocephalus with Alzheimer disease from Alzheimer disease, similar to the z-Evans index and callosal angle. The most distinctive characteristics of the CSF distribution in idiopathic normal pressure hydrocephalus were small convexity subarachnoid spaces and the large volume of the basal cistern and Sylvian fissure. The distribution of the subarachnoid spaces in the idiopathic normal pressure hydrocephalus with Alzheimer disease group was the most deformed among these 3 groups, though the mean ventricular volume of the idiopathic normal pressure hydrocephalus with Alzheimer disease group was intermediate between that of the idiopathic normal pressure hydrocephalus and Alzheimer disease groups. The z-axial expansion of the lateral ventricle and compression of the brain just above the ventricle were the common findings in the parameters for differentiating

Idiopathic orthostatic hypotension treated with levodopa and MAO inhibitor: a preliminary report

PubMed Central

Sharpe, J.; Marquez-Julio, A.; Ashby, P.

1972-01-01

The clinical and pathophysiological features of a case of idiopathic orthostatic hypotension (Shy-Drager syndrome) are presented. Recent reports on the pathological findings in this condition indicate that there may be a defect in catecholamine synthesis in the pigmented brain stem nuclei and sympathetic ganglia similar to that in idiopathic parkinsonism. On this basis a new form of therapy using levodopa combined with MAO inhibition is derived. The results of a trial of this therapy, which produced improvements in both the hypotension and in the extrapyramidal features of the disease, are reported. PMID:5056115

[Clinical features of idiopathic restless legs syndrome in Japanese patients].

PubMed

Kume, Akito; Kume, Hideaki

2010-06-01

Little is known about the diagnosis and management of restless legs syndrome (RLS) in Japanese neurology clinics. To validate the diagnostic criteria of the International RLS Study Group (IRLSSG) and the treatment algorithm of the Mayo Clinic in a Japanese neurology clinic setting and to clarify the features of Japanese patients with idiopathic RLS. Patients with RLS symptoms were examined by a neurologist and the assessment included neurological examination, tests for periodic limb movements (PLM) and dopaminergic response, and the clinical diagnosis was made according to IRLSSG diagnostic criteria. Patients diagnosed with idiopathic RLS were treated with dopaminergic agents and the efficacy was evaluated. The study subjects were 151 Japanese patients who presented with RLS symptoms. Idiopathic RLS was diagnosed in 113 patients, secondary RLS in 16 and RLS mimics in 22. The cause of RLS mimics was either myelopathy, radiculopathy or neuropathy in 11 patients. The mean age of patients with idiopathic RLS was 50.1 (SD 20.0) years, 63% were woman, 97% had daily RLS, 31% had family history (40% of the early-onset subgroup), 86% reported unpleasant sensations in the lower legs, 43% had PLM in the daytime suggested immobilization test, 81% suffered from insomnia, 49% had limitations of work and activities, 71% reported impaired mood, 27% had consulted physicians about their symptoms, 4% had been diagnosed with RLS, 73% improved after dopaminergic treatments, and 33% experienced complete remission. The clinical features of Japanese patients with idiopathic RLS were identical to those reported in western countries, which suggests that IRLSSG diagnostic criteria and Mayo Clinic treatment algorism are valid in Japanese neurology clinics. Both patients and physicians were not fully aware of RLS in this country. Neurological examination was important in excluding RLS mimics and making a diagnosis of RLS.

Pediatric and adult vision restoration after optic nerve sheath decompression for idiopathic intracranial hypertension.

PubMed

Bersani, Thomas A; Meeker, Austin R; Sismanis, Dimitrios N; Carruth, Bryant P

2016-06-01

To compare presentations of idiopathic intracranial hypertension and efficacy of optic nerve sheath decompression between adult and pediatric patients, a retrospective cohort study was completed All idiopathic intracranial hypertension patients undergoing optic nerve sheath decompression by one surgeon between 1991 and 2012 were included. Pre-operative and post-operative visual fields, visual acuity, color vision, and optic nerve appearance were compared between adult and pediatric (<18 years) populations. Outcome measures included percentage of patients with complications or requiring subsequent interventions. Thirty-one adults (46 eyes) and eleven pediatric patients (18 eyes) underwent optic nerve sheath decompression for vision loss from idiopathic intracranial hypertension. Mean deviation on visual field, visual acuity, color vision, and optic nerve appearance significantly improved across all subjects. Pre-operative mean deviation was significantly worse in children compared to adults (p=0.043); there was no difference in mean deviation post-operatively (p=0.838). Significantly more pediatric eyes (6) presented with light perception only or no light perception than adult eyes (0) (p=0.001). Pre-operative color vision performance in children (19%) was significantly worse than in adults (46%) (p=0.026). Percentage of patients with complications or requiring subsequent interventions did not differ between groups. The consistent improvement after surgery and low rate of complications suggest optic nerve sheath decompression is safe and effective in managing vision loss due to adult and pediatric idiopathic intracranial hypertension. Given the advanced pre-operative visual deficits seen in children, one might consider a higher index of suspicion in diagnosing, and earlier surgical intervention in treating pediatric idiopathic intracranial hypertension.

Assessing idiopathic pulmonary fibrosis (IPF) with bronchoscopic OCT (Conference Presentation)

NASA Astrophysics Data System (ADS)

Hariri, Lida P.; Adams, David C.; Colby, Thomas V.; Tager, Andrew M.; Suter, Melissa J.

2016-03-01

Idiopathic pulmonary fibrosis (IPF) is a progressive, fatal form of fibrotic lung disease, with a significantly worse prognosis than other forms of pulmonary fibrosis (3-year survival rate of 50%). Distinguishing IPF from other fibrotic diseases is essential to patient care because it stratifies prognosis and therapeutic decision-making. However, making the diagnosis often requires invasive, high-risk surgical procedures to look for microscopic features not seen on chest CT, such as characteristic cystic honeycombing in the peripheral lung. Optical coherence tomography (OCT) provides rapid 3D visualization of large tissue volumes with microscopic resolutions well beyond the capabilities of CT. We aim to determine whether bronchoscopic OCT can provide a low-risk, non-surgical method for IPF diagnosis. We have developed bronchoscopic OCT catheters that access the peripheral lung and conducted in vivo peripheral lung imaging in patients, including those with pulmonary fibrosis. We also conducted bronchoscopic OCT in ex vivo lung from pulmonary fibrosis patients, including IPF, to determine if OCT could successfully visualize features of IPF through the peripheral airways. Our results demonstrate that OCT is able to visualize characteristic features of IPF through the airway, including microscopic honeycombing (< 1 mm diameter) not visible by CT, dense peripheral fibrosis, and spatial disease heterogeneity. We also found that OCT has potential to distinguish mimickers of IPF honeycombing, such as traction bronchiectasis and emphysema, from true honeycombing. These findings support the potential of bronchoscopic OCT as a minimally-invasive method for in vivo IPF diagnosis. However, future clinical studies are needed to validate these findings.

Idiopathic granulomatous mastitis: a mimicking disease in a pregnant woman: a case report

PubMed Central

2013-01-01

Background Idiopathic granulomatous mastitis is a rare, benign, inflammatory chronic condition of unclear etiology. This case is reported because it illustrates how idiopathic granulomatous mastitis can mimic other diseases, making it difficult to associate the presenting symptoms and the correct diagnosis; This disease is a challenge for clinicians to diagnose, manage and avoid iatrogenic complications, and requires consultation with experts in several specialties. Case presentation The patient was 30 years old, South-American, eleven weeks pregnant, and with an apparent infectious mastitis. She presented with progressive worsening of her breast symptoms and multiple negative laboratory tests. She suffered different side effects from several prescribed treatments and endured a prolonged recovery. The article emphasizes the need for ruling out common pathologies to arrive at the correct diagnosis such as bacterial and fungal infections; granulomatous conditions like tuberculosis and sarcoidosis; and inflammatory breast carcinoma. It also describes frequently used pharmacological and supplementary forms of treatment for patients with this condition. Conclusion Idiopathic granulomatous mastitis is a rare unusual condition of unknown etiology. Pathological confirmation is required for its diagnosis and optimal management is still unclear. The presentation and management of this case is intended to advance its awareness to physicians from different specialties. PMID:23497626

Nonsurgical Management of Adolescent Idiopathic Scoliosis.

PubMed

Gomez, Jaime A; Hresko, M Timothy; Glotzbecker, Michael P

2016-08-01

Pediatric patient visits for spinal deformity are common. Most of these visits are for nonsurgical management of scoliosis, with approximately 600,000 visits for adolescent idiopathic scoliosis (AIS) annually. Appropriate management of scoliotic curves that do not meet surgical indication parameters is essential. Renewed enthusiasm for nonsurgical management of AIS (eg, bracing, physical therapy) exists in part because of the results of the Bracing in Adolescent Idiopathic Scoliosis Trial, which is the only randomized controlled trial available on the use of bracing for AIS. Bracing is appropriate for idiopathic curves between 20° and 40°, with successful control of these curves reported in >70% of patients. Patient adherence to the prescribed duration of wear is essential to maximize the effectiveness of the brace. The choice of brace type must be individualized according to the deformity and the patient's personality as well as the practice setting and brace availability.

Occurrence of idiopathic pulmonary fibrosis during immunosuppressive treatment: a case report.

PubMed

Cerri, Stefania; Sgalla, Giacomo; Richeldi, Luca; Luppi, Fabrizio

2016-05-25

Immunosuppressive therapy has been-until the recent release of new guidelines on diagnosis and management-the recommended treatment for idiopathic pulmonary fibrosis. However, its efficacy in patients with idiopathic pulmonary fibrosis has always been a matter of debate. We report the occurrence of idiopathic pulmonary fibrosis in a white man receiving chronic immunosuppressive treatment following a heart transplant. This case report suggests that the immune mechanisms targeted by azathioprine and cyclosporine do not play a role in the pathogenesis of idiopathic pulmonary fibrosis.

Pathology of idiopathic non-cirrhotic portal hypertension.

PubMed

Guido, Maria; Sarcognato, Samantha; Sacchi, Diana; Colloredo, Guido

2018-04-12

Idiopathic non-cirrhotic portal hypertension is an under-recognized vascular liver disease of unknown etiology, characterized by clinical signs of portal hypertension in the absence of cirrhosis. By definition, any disorder known to cause portal hypertension in the absence of cirrhosis and any cause of chronic liver disease must be excluded to make a diagnosis of idiopathic non-cirrhotic portal hypertension. However, the diagnosis is often difficult because the disease resembles cirrhosis and there is no gold standard test. Liver biopsy is an essential tool: it is able to exclude cirrhosis and other causes of portal hypertension and it allows the identification of the characteristic lesions. Nonetheless, the histological diagnosis of idiopathic non-cirrhotic portal hypertension is not always straightforward, in particular by needle biopsy samples, because there is no pathognomonic lesion, but rather a variety of vascular changes which are unevenly distributed, very subtle, and not all necessarily identified in a single specimen. Pathologists should be able to recognize several patterns of injury, involving portal/periportal areas as well as parenchymal structures.The histological features of idiopathic non-cirrhotic portal hypertension are described in this review, focusing on their interpretation in needle biopsy specimens.

A geriatric patient with diffuse idiopathic skeletal hyperostosis

PubMed Central

Karadag, Berrin; Cat, Huseyin; Aksoy, Selma; Ozulu, Banu; Ozturk, Ali Osman; Oguz, Sukru; Altuntas, Yuksel

2010-01-01

The most frequent health problems seen in senility are chronic and degenerative diseases. A 75-year-old male patient with the complaints of weight loss and difficulty in swallowing was admitted to our hospital from a nursing home. Upper system fiber-optic gastrointestinal endoscopy was performed and a mass at the junction of the hypopharynx and esophagus just below recessus piriformis obstructing almost the whole of the lumen and blocking the distal passage was detected. Computed tomography revealed marked narrowing secondary to osseous hypertrophy in the air column of the hypopharynx and proximal esophagus. Diffuse idiopathic skeletal hyperostosis or Forestier’s disease is an idiopathic disease characterized by the ossification of the anterior longitudinal ligament of vertebra and some of the extraspinal ligaments. In the present case we aim to discuss an elderly patient who suffered from dysphagia and weight loss and the diagnostic stages. PMID:20355249

[Adolescent idiopathic scoliosis].

PubMed

2016-12-01

Adolescent idiopathic scoliosis is a 3D spinal deformity in frontal, sagittal and axial planes, with high relevance in the pediatric population especially in adolescents and females between 10 years of age and the end of growth spurt and skeletal maturity. The radiographic manifestation is a curve greater than 10° measured by Cobb method associated with vertebral rotation. "Idiopathic" diagnosis has to be done after neuroanatomical anomalies of the posterior cerebral fosa and spinal canal have been ruled out. The physical finding of a thoracic or lumbar hump is the clinical manifestation of vertebral rotation seen in a forward bending test (Adam's Test). It is recommended that all curves with a magnitude greater than 20° have to be controlled and treated by a spinal surgeon being observation, bracing and surgery the different treatment options based on the extent, progression of deformity and basically the clinical condition of the patient. Sociedad Argentina de Pediatría.

Idiopathic toe walking.

PubMed

Oetgen, Matthew E; Peden, Sean

2012-05-01

Toe walking is a bilateral gait abnormality in which a normal heel strike is absent and most weight bearing occurs through the forefoot. This abnormality may not be pathologic in patients aged <2 years, but it is a common reason for referral to an orthopaedic surgeon. Toe walking can be caused by several neurologic and developmental abnormalities and may be the first sign of a global developmental problem. Cases that lack a definitive etiology are categorized as idiopathic. A detailed history, with careful documentation of the developmental history, and a thorough physical examination are required in the child with a primary report of toe walking. Treatment is based on age and the severity of the abnormality. Management includes observation, stretching, casting, bracing, chemodenervation, and surgical lengthening of the gastrocnemius-soleus complex and/or Achilles tendon. An understanding of idiopathic toe walking as well as treatment options and their outcomes can help the physician individualize treatment to achieve optimal results.

CLINICAL CHARACTERISTICS OF IDIOPATHIC FOVEOMACULAR RETINOSCHISIS.

PubMed

Maruko, Ichiro; Morizane, Yuki; Kimura, Shuhei; Shiode, Yusuke; Hosokawa, Mio; Sekiryu, Tetsuju; Iida, Tomohiro; Shiraga, Fumio

2016-08-01

To describe the clinical features of idiopathic foveomacular retinoschisis not in association with myopia, glaucoma, optic disk pit, or juvenile retinoschisis. Retrospective observational case series. Five eyes of five patients with idiopathic foveomacular retinoschisis were included. The patients were 2 men and 3 women (average age, 75.2 years; range, 71-78 years). The average spherical equivalent was +2.40 diopters (range, +0.88 to +5.75 diopters), and the average axial length was 22.0 mm (range, 21.1-23.1 mm). All patients had retinoschisis from the macula to the optic disk in the affected eye. No patients had retinoschisis in the fellow eye. The average best-corrected visual acuity was 20/44 (68 Early Treatment Diabetic Retinopathy Study letter score). Idiopathic foveomacular retinoschisis is not inherited or associated with myopia, vitreomacular traction syndrome, optic pit, or glaucoma but is associated with older age, unilaterality, hyperopia with short axial length, complete posterior vitreous detachment, and weak leakage from the optic disk on fluorescein angiography.

Optimal management of idiopathic scoliosis in adolescence

PubMed Central

Kotwicki, Tomasz; Chowanska, Joanna; Kinel, Edyta; Czaprowski, Dariusz; Tomaszewski, Marek; Janusz, Piotr

2013-01-01

Idiopathic scoliosis is a three-dimensional deformity of the growing spine, affecting 2%–3% of adolescents. Although benign in the majority of patients, the natural course of the disease may result in significant disturbance of body morphology, reduced thoracic volume, impaired respiration, increased rates of back pain, and serious esthetic concerns. Risk of deterioration is highest during the pubertal growth spurt and increases the risk of pathologic spinal curvature, increasing angular value, trunk imbalance, and thoracic deformity. Early clinical detection of scoliosis relies on careful examination of trunk shape and is subject to screening programs in some regions. Treatment options are physiotherapy, corrective bracing, or surgery for mild, moderate, or severe scoliosis, respectively, with both the actual degree of deformity and prognosis being taken into account. Physiotherapy used in mild idiopathic scoliosis comprises general training of the trunk musculature and physical capacity, while specific physiotherapeutic techniques aim to address the spinal curvature itself, attempting to achieve self-correction with active trunk movements developed in a three-dimensional space by an instructed adolescent under visual and proprioceptive control. Moderate but progressive idiopathic scoliosis in skeletally immature adolescents can be successfully halted using a corrective brace which has to be worn full time for several months or until skeletal maturity, and is able to prevent more severe deformity and avoid the need for surgical treatment. Surgery is the treatment of choice for severe idiopathic scoliosis which is rapidly progressive, with early onset, late diagnosis, and neglected or failed conservative treatment. The psychologic impact of idiopathic scoliosis, a chronic disease occurring in the psychologically fragile period of adolescence, is important because of its body distorting character and the onerous treatment required, either conservative or surgical

Whither the etiopathogenesis (and scoliogeny) of adolescent idiopathic scoliosis? Incorporating presentations on scoliogeny at the 2012 IRSSD and SRS meetings

PubMed Central

2013-01-01

This paper aims to integrate into current understanding of AIS causation, etiopathogenetic information presented at two Meetings during 2012 namely, the International Research Society of Spinal Deformities (IRSSD) and the Scoliosis Research Society (SRS). The ultimate hope is to prevent the occurrence or progression of the spinal deformity of AIS with non-invasive treatment, possibly medical. This might be attained by personalised polymechanistic preventive therapy targeting the appropriate etiology and/or etiopathogenetic pathways, to avoid fusion and maintain spinal mobility. Although considerable progress had been made in the past two decades in understanding the etiopathogenesis of adolescent idiopathic scoliosis (AIS), it still lacks an agreed theory of etiopathogenesis. One problem may be that AIS results not from one cause, but several that interact with various genetic predisposing factors. There is a view there are two other pathogenic processes for idiopathic scoliosis namely, initiating (or inducing), and those that cause curve progression. Twin studies and observations of family aggregation have revealed significant genetic contributions to idiopathic scoliosis, that place AIS among other common disease or complex traits with a high heritability interpreted by the genetic variant hypothesis of disease. We summarize etiopathogenetic knowledge of AIS as theories of pathogenesis including recent multiple concepts, and blood tests for AIS based on predictive biomarkers and genetic variants that signify disease risk. There is increasing evidence for the possibility of an underlying neurological disorder for AIS, research which holds promise. Like brain research, most AIS workers focus on their own corner and there is a need for greater integration of research effort. Epigenetics, a relatively recent field, evaluates factors concerned with gene expression in relation to environment, disease, normal development and aging, with a complex regulation across the

Adolescent idiopathic scoliosis: Indications and efficacy of nonoperative treatment

PubMed Central

Canavese, Federico; Kaelin, André

2011-01-01

The strategy for the treatment of idiopathic scoliosis depends essentially upon the magnitude and pattern of the deformity, and its potential for progression. Treatment options include observation, bracing and/or surgery. During the past decade, several studies have demonstrated that the natural history of adolescent idiopathic scoliosis can be positively affected by nonoperative treatment, especially bracing. Other forms of conservative treatment, such as chiropractic or osteopathic manipulation, acupuncture, exercise or other manual treatments, or diet and nutrition, have not yet been proven to be effective in controlling spinal deformity progression, and those with a natural history that is favorable at the completion of growth. Observation is appropriate treatment for small curves, curves that are at low risk of progression, and those with a natural history that is favorable at the completion of growth. Indications for brace treatment are a growing child presenting with a curve of 25°–40° or a curve less than 25° with documented progression. Curves of 20°–25° in patients with pronounced skeletal immaturity should also be treated. The purpose of this review is to provide information about conservative treatment of adolescent idiopathic scoliosis. Indications for conservative treatment, hours daily wear and complications of brace treatment as well as brace types are discussed. PMID:21221217

Treatment of the idiopathic scoliosis with brace and physiotherapy.

PubMed

Hundozi-Hysenaj, Hajrije; Dallku, Iliriana Boshnjaku; Murtezani, Ardiana; Rrecaj, Shkurte

2009-01-01

Scoliosis is a three-dimensional deformation of the spine with a lateral curvature or deviation greater than 10 degrees and associated with vertebral rotation. Many conservative treatments are available for adolescents with idiopathic scoliosis, but the evidence for their effectiveness is still questioned. The objective of this study was to define the effectiveness of braces and individual physiotherapy for the comprehensive treatment of idiopathic scoliosis in adolescents. A retrospective study of 57 children with idiopathic thoracic dextroscoliosis with the magnitude of the thoracic curve between 20 degrees-35 degrees, treated in Orthopedic and Physiatrist Clinic as well as National Ortho-prosthetic Center within University Clinical Center of Kosova in Prishtina, during the period of 2003-2006. Inclusion of kinesitherapy in the comprehensive management of idiopathic scoliosis varied in the improvement of the muscle strength (satisfied and moderate) in almost 80% of the children while the correction of the curve was small in approximately 42.1% of cases. For children with idiopathic scoliosis, who require braces, an exercise program helps chest mobility, muscle strength, proper breathing flexibility in the spine, correct posture and keeps muscles in tone so that the transition period after brace removal is easier.

Acute exacerbation of idiopathic pulmonary fibrosis triggered by Aspergillus empyema.

PubMed

Suzuki, Atsushi; Kimura, Tomoki; Kataoka, Kensuke; Matsuda, Toshiaki; Yokoyama, Toshiki; Mori, Yuta; Kondoh, Yasuhiro

2018-01-01

Acute exacerbation (AE) is a severe and life-threatening complication of idiopathic pulmonary fibrosis (IPF). In 2016, the definition and diagnostic criteria for AE-IPF were updated by an international working group. The new definition includes any acute, clinically significant respiratory deterioration (both idiopathic and triggered events) characterized by evidence of new widespread alveolar abnormality in patients with IPF. There are no currently proven beneficial management strategies for idiopathic and triggered AE-IPF. This is the first report describing AE-IPF triggered by Aspergillus empyema, which was improved by a combination of corticosteroid, systemic antifungal therapy, local antifungal therapy, and additional pharmacological therapies. Future research may reveal optimal strategies for both idiopathic and triggered AE-IPF.

Guidelines for the medical treatment of idiopathic pulmonary fibrosis.

PubMed

Xaubet, Antoni; Molina-Molina, María; Acosta, Orlando; Bollo, Elena; Castillo, Diego; Fernández-Fabrellas, Estrella; Rodríguez-Portal, José Antonio; Valenzuela, Claudia; Ancochea, Julio

2017-05-01

Idiopathic pulmonary fibrosis is defined as chronic fibrosing interstitial pneumonia limited to the lung, with poor prognosis. The incidence has been rising in recent years probably due to improved diagnostic methods and increased life expectancy. In 2013, the SEPAR guidelines for the diagnosis and treatment for idiopathic pulmonary fibrosis were published. Since then, clinical trials and meta-analyses have shown strong scientific evidence for the use of pirfenidone and nintedanib in the treatment of idiopathic pulmonary fibrosis. In 2015, the international consensus of 2011 was updated and new therapeutic recommendations were established, prompting us to update our recommendation for the medical treatment of idiopathic pulmonary fibrosis accordingly. Diagnostic aspects and non-pharmacological treatment will not be discussed as no relevant developments have emerged since the 2013 guidelines. Copyright © 2017 SEPAR. Publicado por Elsevier España, S.L.U. All rights reserved.

Effects of Low-frequency Current Sacral Dermatome Stimulation on Idiopathic Slow Transit Constipation.

PubMed

Kim, Jin-Seop; Yi, Seung-Ju

2014-06-01

[Purpose] This study aimed to determine whether low-frequency current therapy can be used to reduce the symptoms of idiopathic slow transit constipation (ISTC). [Subjects] Fifteen patients (ten male and five female) with idiopathic slow transit constipation were enrolled in the present study. [Results] Bowel movements per day, bowel movements per week, and constipation assessment scale scores significantly improved after low-frequency current simulation of S2-S3. [Conclusion] Our results show that stimulation with low-frequency current of the sacral dermatomes may offer therapeutic benefits for a subject of patients with ISTC.

Idiopathic Juxtafoveolar Retinal Telangiectasis: A Current Review

PubMed Central

Nowilaty, Sawsan R.; Al-Shamsi, Hanan N.; Al-Khars, Wajeeha

2010-01-01

Idiopathic juxtafoveolar retinal telangiectasis (IJFT), also known as parafoveal telangiectasis or idiopathic macular telangiectasia, refers to a heterogeneous group of well-recognized clinical entities characterized by telangiectatic alterations of the juxtafoveolar capillary network of one or both eyes, but which differ in appearance, presumed pathogenesis, and management strategies. Classically, three groups of IJFT are identified. Group I is unilateral easily visible telangiectasis occurring predominantly in males, and causing visual loss as a result of macular edema. Group II, the most common, is bilateral occurring in both middle-aged men and women, and presenting with telangiectasis that is more difficult to detect on biomicroscopy, but with characteristic and diagnostic angiographic and optical coherence tomography features. Vision loss is due to retinal atrophy, not exudation, and subretinal neovascularization is common. Group III is very rare characterized predominantly by progressive obliteration of the perifoveal capillary network, occurring usually in association with a medical or neurologic disease. This paper presents a current review of juxtafoveolar retinal telangiectasis, reviewing the classification of these entities and focusing primarily on the two most common types encountered in clinical practice, i.e., groups I and II, describing their clinical features, histopathology, natural history, complications, latest results from imaging modalities and functional studies, differential diagnosis, and treatment modalities. PMID:20844678

Maternal asthma and idiopathic preterm labor.

PubMed

Kramer, M S; Coates, A L; Michoud, M C; Dagenais, S; Moshonas, D; Davis, G M; Hamilton, E F; Nuwayhid, B; Joshi, A K; Papageorgiou, A

1995-11-15

Previous studies suggest that women with asthma are at increased risk of preterm birth. Moreover, drugs (especially beta-agonists) used to treat asthma are also used to treat preterm labor. The authors carried out a case-control study of 555 women from three hospital centers with idiopathic preterm labor (< 37 weeks), including two overlapping (i.e., non-mutually exclusive) subsamples: cases with early idiopathic preterm labor (< 34 weeks) and cases with idiopathic recurrent preterm labor (< 37 weeks plus a previous history of preterm delivery or second-trimester miscarriage). Controls were matched to cases according to race and smoking history prior to and during pregnancy. All subjects responded in person to questions about atopic, respiratory, obstetric, and sociodemographic histories. Subjects in the early and recurrent preterm labor subsamples were also asked to undergo spirometric testing with methacholine challenge 6-12 weeks after delivery. Cases were significantly more likely to report histories of asthma symptoms and physician-diagnosed asthma (matched odds ratios of 2-3) than controls, particularly those cases with recurrent preterm labor. No significant associations were observed, however, with methacholine responsiveness. These results could not be explained by residual confounding by smoking or other variables, nor by selective recall of asthma symptoms and histories by cases. Women with asthma are at increased risk of idiopathic preterm labor. The fact that no such association was seen with methacholine responsiveness suggests that nonatopic, noncholinergic mechanisms may link bronchial and uterine smooth muscle lability.

Altered Regional Cerebral Blood Flow in Idiopathic Hypersomnia.

PubMed

Boucetta, Soufiane; Montplaisir, Jacques; Zadra, Antonio; Lachapelle, Francis; Soucy, Jean-Paul; Gravel, Paul; Dang-Vu, Thien Thanh

2017-10-01

Idiopathic hypersomnia is characterized by excessive daytime sleepiness, despite normal or long sleep time. Its pathophysiological mechanisms remain unclear. This pilot study aims at characterizing the neural correlates of idiopathic hypersomnia using single photon emission computed tomography. Thirteen participants with idiopathic hypersomnia and 16 healthy controls were scanned during resting wakefulness using a high-resolution single photon emission computed tomography scanner with 99mTc-ethyl cysteinate dimer to assess cerebral blood flow. The main analysis compared regional cerebral blood flow distribution between the two groups. Exploratory correlations between regional cerebral blood flow and clinical characteristics evaluated the functional correlates of those brain perfusion patterns. Significance was set at p < .05 after correction for multiple comparisons. Participants with idiopathic hypersomnia showed regional cerebral blood flow decreases in medial prefrontal cortex and posterior cingulate cortex and putamen, as well as increases in amygdala and temporo-occipital cortices. Lower regional cerebral blood flow in the medial prefrontal cortex was associated with higher daytime sleepiness. These preliminary findings suggest that idiopathic hypersomnia is characterized by functional alterations in brain areas involved in the modulation of vigilance states, which may contribute to the daytime symptoms of this condition. The distribution of regional cerebral blood flow changes was reminiscent of the patterns associated with normal non-rapid-eye-movement sleep, suggesting the possible presence of incomplete sleep-wake transitions. These abnormalities were strikingly distinct from those induced by acute sleep deprivation, suggesting that the patterns seen here might reflect a trait associated with idiopathic hypersomnia rather than a non-specific state of sleepiness. © Sleep Research Society 2017. Published by Oxford University Press on behalf of the Sleep

Idiopathic Hypersomnia: Clinical Features and Response to Treatment

PubMed Central

Ali, Mohsin; Auger, R. Robert; Slocumb, Nancy L.; Morgenthaler, Timothy I.

2009-01-01

Objective: A recent American Academy of Sleep Medicine publication identified a need for research regarding idiopathic hypersomnia. We describe various clinical and polysomnographic features of patients with idiopathic hypersomnia, with an emphasis on response to pharmacotherapy. Methods: A retrospective review of our database initially identified 997 patients, utilizing “idiopathic hypersomnia,” “hypersomnia NOS,” and “primary hypersomnia” as keywords. The charts of eligible patients were examined in detail, and data were abstracted and analyzed. Response to treatment was graded utilizing an internally developed scale. Results: Eighty-five patients were ultimately identified (65% female). Median (interquartile range) ages of onset and diagnosis were 19.6 (15.5) and 33.7 (15.5), respectively. During a median follow-up duration of 2.4 (4.7) years, 65% of patients demonstrated a “complete response” to pharmacotherapy as assessed by the authors' grading schema. Methylphenidate was most commonly used as a first-line agent prior to December 1998, but subsequently, modafinil became the most common first drug. At the last recorded follow-up visit, 92% of patients were on monotherapy, with greater representation of methylphenidate versus modafinil (51% vs. 32%). Among these patients, methylphenidate produced a higher percentage of “complete” or “partial” responses than modafinil, although statistical significance was not reached (38/40 [ 95%] vs 22/25 [88%], respectively, p = 0.291). Conclusions: The majority of patients with idiopathic hypersomnia respond well to treatment. Methylphenidate is chosen more often than modafinil as final monotherapy in the treatment of idiopathic hypersomnia, despite the fact that it is less commonly used initially. Further prospective comparisons of medications should be explored. Citation: Ali M; Auger RR; Slocumb NL; Morgenthaler TI. Idiopathic hypersomnia: clinical features and response to treatment. J Clin Sleep

Brain MRI findings in patients with idiopathic hypersomnia.

PubMed

Trotti, Lynn Marie; Bliwise, Donald L

2017-06-01

Proper diagnosis of idiopathic hypersomnia necessitates the exclusion of neurologic or medical causes of sleepiness that better explain the clinical syndrome. However, there are no formal guidelines regarding the use of neuroimaging to identify such secondary causes of symptoms. We sought to characterize brain MRI findings in a series of patients with idiopathic hypersomnia. We reviewed medical records on a consecutive series of 61 patients diagnosed with idiopathic hypersomnia to determine the frequency and results of brain magnetic resonance imaging (MRI). One-third of patients had undergone brain MRI, with focal neurologic signs or symptoms being the most common indication for neuroimaging. Although seven patients had an identifiable finding on neuroimaging (e.g., chronic microvascular ischemic changes), clinical management was changed as a result of imaging in only three cases. In all three, the imaging finding was predated by clear clinical abnormalities. Neuroimaging may be a complementary part of an idiopathic hypersomnia evaluation, but the decision to pursue imaging should be made on a case-by-case basis. Copyright © 2017 Elsevier B.V. All rights reserved.

Lack of evidence for central sensitization in idiopathic, non-traumatic neck pain: a systematic review.

PubMed

Malfliet, Annaleen; Kregel, Jeroen; Cagnie, Barbara; Kuipers, Mandy; Dolphens, Mieke; Roussel, Nathalie; Meeus, Mira; Danneels, Lieven; Bramer, Wichor M; Nijs, Jo

2015-01-01

Chronic neck pain is a common problem with a poorly understood pathophysiology. Often no underlying structural pathology can be found and radiological imaging findings are more related to age than to a patient's symptoms. Besides its common occurrence, chronic idiopathic neck pain is also very disabling with almost 50% of all neck pain patients showing moderate disability at long-term follow-up. Central sensitization (CS) is defined as "an amplification of neural signaling within the central nervous system that elicits pain hypersensitivity," "increased responsiveness of nociceptive neurons in the central nervous system to their normal or subthreshold afferent input," or "an augmentation of responsiveness of central neurons to input from unimodal and polymodal receptors." There is increasing evidence for involvement of CS in many chronic pain conditions. Within the area of chronic idiopathic neck pain, there is consistent evidence for the presence and clinical importance of CS in patients with traumatic neck pain, or whiplash-associated disorders. However, the majority of chronic idiopathic neck pain patients are unrelated to a traumatic injury, and hence are termed chronic idiopathic non-traumatic neck pain. When comparing whiplash with idiopathic non-traumatic neck pain, indications for different underlying mechanisms are found. The goal of this article was to review the existing scientific literature on the role of CS in patients with chronic idiopathic non-traumatic neck pain. Systematic review. All selected studies were case control studies. A systematic search of existing, relevant literature was performed via the electronic databases Medline, Embase, Web of Science, Cinahl, PubMed, and Google Scholar. All titles and abstracts were checked to identify relevant articles. An article was considered eligible if it met following inclusion criteria: (1) participants had to be human adults (> 18 years) diagnosed with idiopathic non-traumatic chronic (present for at

[Idiopathic scrotal elephantiasis. A case report].

PubMed

López-Caballero, Ignacio; Sánchez-Ruvalcaba, Itzel; Sánchez-Martinez, Luis Carlos; Hernández-Ordoñez, Octavio; Gómez-Lara, Miguel; Flores-Carrillo, Víctor

2014-01-01

Penoscrotal lymphedema (scrotal elephantiasis) is a condition that has been described in areas in which filariasis is endemic. This paper presents a case of a 45-year-old man with idiopathic lymphedema isolated to the scrotum. After acquired causes of lymphedema were ruled out, the patient was treated with scrotectomy and penoscrotal reconstruction. Currently, the patient is receiving follow-up care without evidence of recurrence. Penoscrotal lymphedema may cause symptoms of weakness, immobility and emotional disturbance. Surgery procedure provides a satisfactory cosmetical and functional outcome.

Conservative management of idiopathic scoliosis--guidelines based on SOSORT 2006 Consensus.

PubMed

Kotwicki, Tomasz; Durmała, Jacek; Czaprowski, Dariusz; Głowacki, Maciej; Kołban, Maciej; Snela, Sławomir; Sliwiński, Zbigniew; Kowalski, Ireneusz M

2009-01-01

Idiopathic scoliosis, defined as a lateral curvature of the spine of above 10 degrees (Cobb angle), is seen in 2-3% of the growing age population, while curves above 20 degrees , requiring conservative treatment, are found in 0.3-0.5%. In our observation, both under-treatment of progressive curves and over-treatment of stable cases are common during conservative management of scoliosis. A model of therapeutic management is presented based on the experience of Polish clinicians specialising in the treatment of scoliosis as well as the effects of work of a panel of experts of SOSORT (Society on Scoliosis Orthopaedic and Rehabilitation Treatment). The model comprises the indications for conservative treatment according to age, curve type and size and Risser grading. The aetiology, classifications, usefulness of the Lonstein and Carlson factor of progression and other methods of determining the probability of scoliosis progression, as well as the psychological aspects of conservative management are presented. Based on the knowledge of the natural history of idiopathic scoliosis, factors of progression and on the SOSORT experts' opinion, guidelines are proposed for clinicians treating children and adolescents with idiopathic scoliosis, including the timing and course of brace treatment and the types of exercises. Uniform practical guidelines developed by experts may represent an essential step towards establishing standards of conservative scoliosis care in our country.

Idiopathic diaphragmatic paralysis: Bell's palsy of the diaphragm?

PubMed

Crausman, Robert S; Summerhill, Eleanor M; McCool, F Dennis

2009-01-01

Idiopathic diaphragm paralysis is probably more common and responsible for more morbidity than generally appreciated. Bell's palsy, or idiopathic paralysis of the seventh cranial nerve, may be seen as an analogous condition. The roles of zoster sine herpete and herpes simplex have increasingly been recognized in Bell's palsy, and there are some data to suggest that antiviral therapy is a useful adjunct to steroid therapy. Thus, we postulated that antiviral therapy might have a positive impact on the course of acute idiopathic diaphragm paralysis which is likely related to viral infection. Three consecutive patients with subacute onset of symptomatic idiopathic hemidiaphragm paralysis were empirically treated with valacyclovir, 1,000 mg twice daily for 1 week. Prior to therapy, diaphragmatic function was assessed via pulmonary function testing and two-dimensional B-mode ultrasound, with testing repeated 1 month later. Diaphragmatic function pre- and post-treatment was compared to that of a historical control group of 16 untreated patients. All three subjects demonstrated ultrasound recovery of diaphragm function 4-6 weeks following treatment with valacyclovir. This recovery was accompanied by improvements in maximum inspiratory pressure (PI(max)) and vital capacity (VC). In contrast, in the untreated cohort, diaphragm recovery occurred in only 11 subjects, taking an average of 14.9 +/- 6.1 months (mean +/- SD). The results of this small, preliminary study suggest that antiviral therapy with valacyclovir may be helpful in the treatment of idiopathic diaphragm paralysis induced by a viral infection.

Idiopathic Granulomatous Mastitis Associated with Corynebacterium Sp. Infection

PubMed Central

Lee, Yun Sun; Balfour, John

2011-01-01

Idiopathic granulomatous mastitis (IGM) is a rare inflammatory condition of the breast. The etiology and treatments options of IGM remain controversial. Previous case reports have suggested that Corynebacterium sp., a gram-positive bacillus endogenous to the skin, may be associated with IGM. In the present report, we describe the first case of IGM with a positive culture for Corynebacterium sp. reported in the United States. PMID:21857740

Different expression patterns of LGALS1 and LGALS3 in polycythemia vera, essential thrombocythemia and primary myelofibrosis.

PubMed

Moura, L G; Tognon, R; Nunes, N S; Rodrigues, L Cataldi; Ferreira, A F; Kashima, S; Covas, D T; Santana, M; Souto, E X; Perobelli, L; Simões, B P; Dias-Baruffi, M; Castro, F A

2016-10-01

Despite all the knowledge, the cellular and molecular mechanisms involved in myeloproliferative neoplasm (MPN) pathophysiology remain unclear. Authors have shown galectin-1 (Gal-1) and 3 playing roles in tumour angiogenesis and fibrosis, which were correlated with poor prognosis in patients with MPN. In the present study LGALS1 and LGALS3 were differently expressed between polycythemia vera, essential thrombocythemia (ET) and primary myelofibrosis (PMF) diseases. Increased LGALS3 expression was associated with a negative JAK2 V617F status mutation in leucocytes from PMF but not in patients with ET without this mutation. However, a positive Janus kinase 2 (JAK2) V617F cell line established from patients with ET (SET-2 cells) when treated with JAK inhibitor presented high levels of LGALS3. Additionally, high LGALS1 expression was found in CD34(+) cells but not in leucocytes from patients with PMF, in absence of JAK2 V617F mutation, and also in SET-2 cells treated with JAK inhibitor. Thus, our findings indicate that differential expression of LGALS1 and/or LGALS3 in patients with MPN is linked with JAK2 V617F status mutation in these diseases and state of cell differentiation. 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/

Philadelphia chromosome-negative myeloproliferative disorders: biology and treatment.

PubMed

Hoffman, Ronald; Prchal, Josef T; Samuelson, Scott; Ciurea, Stefan O; Rondelli, Damiano

2007-01-01

The Philadelphia chromosome (Ph)-negative myeloproliferative disorders (MPDs) include essential thrombocythemia (ET), idiopathic myelofibrosis (IMF), and polycythemia vera (PV). All of these disorders are clonal hematologic malignancies originating at the level of the pluripotent hematopoietic stem cell. Recently, activating mutations of the intracellular cytokine-signaling molecule JAK2 have been identified in > 90% of patients with PV and in 50% of those with IMF and ET. In addition, a mutation of the thrombopoietin receptor, MPLW515L, has been documented in some patients with IMF. Both mutations activate JAK-STAT signaling pathways and likely play a role in disease progression. Both ET and PV are associated with prolonged clinical courses associated with frequent thrombotic and hemorrhagic events, and progression to myelofibrosis and acute leukemia. IMF has a much poorer prognosis and is associated with cytopenias, splenomegaly, extramedullary hematopoiesis, and bone marrow fibrosis. Stratification of risk for the development of complications from Ph-negative MPDs has guided the identification of appropriate therapies for this population. Intermediate/high-risk IMF or myelofibrosis after ET or PV is associated with a sufficiently poor prognosis to justify the use of allogeneic stem cell transplantation, which is capable of curing such patients. Reduced-intensity conditioning in preparation for allogeneic stem cell transplantation has permitted older patients with IMF to undergo transplantation with increasing success.

Lameness associated with tarsal haemarthrosis as the sole clinical sign of idiopathic immune-mediated thrombocytopenia in a dog.

PubMed

Walton, M B; Mardell, E; Spoor, M; Innes, J

2014-01-01

A four-year-old, male Cocker Spaniel was presented for investigation of pelvic limb stiffness. There was palpable effusion of both tarsi, and analysis of synovial fluid from these joints indicated previous haemorrhage. After further investigation a diagnosis of idiopathic immune-mediated thrombocytopenia was made. The dog responded to treatment with prednisolone and azathioprine. To the authors' knowledge, this is the first reported case of confirmed haemarthrosis as the sole presenting clinical sign for canine idiopathic immune-mediated thrombocytopenia.

Risk of Idiopathic Dilated Cardiomyopathy in 29 000 Patients With Celiac Disease

PubMed Central

Emilsson, Louise; Andersson, Bert; Elfström, Peter; Green, Peter H.R.; Ludvigsson, Jonas F.

2012-01-01

Background Dilated cardiomyopathy (DCM) is a rare disease of largely unknown origin. Previous studies have suggested an increased prevalence of celiac disease (CD) in patients with DCM. These studies, however, were based on a maximum of 5 patients with both CD and DCM. In the present large Swedish population-based cohort study, we examined the risk of idiopathic DCM in patients with CD determined by small-intestinal histopathology. Methods and Results From 2006 to 2008, we collected duodenal/jejunal biopsy data on CD (equal to villous atrophy, Marsh stage 3, n=29 071 unique individuals) from (all) 28 pathology departments in Sweden. These individuals were compared with 144 429 reference individuals matched for age, sex, calendar year, and county. Data on DCM were obtained through the National Patient Register and confirmed by patient charts and echocardiography data. During follow-up, 17 patients with CD and 52 reference individuals developed idiopathic DCM. Thus, patients with CD were at an increased risk of idiopathic DCM (hazard ratio, 1.73; 95% confidence interval, 1.00 to 3.00), although the risk estimate failed to attain statistical significance (P=0.052). Conclusion This nationwide study found a moderately but not statistically significantly increased risk of idiopathic DCM in patients with biopsy-verified CD. (J Am Heart Assoc. 2012;1:e001594 doi: 10.1161/JAHA.112.001594.) PMID:23130142

Effects of Low-frequency Current Sacral Dermatome Stimulation on Idiopathic Slow Transit Constipation

PubMed Central

Kim, Jin-Seop; Yi, Seung-Ju

2014-01-01

[Purpose] This study aimed to determine whether low-frequency current therapy can be used to reduce the symptoms of idiopathic slow transit constipation (ISTC). [Subjects] Fifteen patients (ten male and five female) with idiopathic slow transit constipation were enrolled in the present study. [Results] Bowel movements per day, bowel movements per week, and constipation assessment scale scores significantly improved after low-frequency current simulation of S2-S3. [Conclusion] Our results show that stimulation with low-frequency current of the sacral dermatomes may offer therapeutic benefits for a subject of patients with ISTC. PMID:25013277

Surgical repair of idiopathic scrotal elephantiasis.

PubMed

Zacharakis, Evangelos; Dudderidge, Tim; Zacharakis, Emmanouil; Ioannidis, Evangelos

2008-02-01

Scrotal lymphedema (scrotal elephantiasis) is uncommon outside of filariasis endemic regions. We present a case of a 65-year-old with idiopathic lymphedema of the scrotum and functional impairment of the penis. The patient underwent surgical excision of the edematous subcutaneous tissues and plastic reconstruction of his penis and scrotum. Three years later, the patient showed no signs of local recurrence, had complete restoration of urinary and sexual function and was extremely satisfied with the result. Surgical management was an effective strategy in the management of scrotal lymphedema in this case.

Stent-Graft Placement for Femoral Artery Pseudoaneurysm in a Patient with Idiopathic Multiple Arterial Aneurysmal Disease

DOE Office of Scientific and Technical Information (OSTI.GOV)

Koo, Bon Kwon; Choi, Donghoon; Kwon, Kihwan

2002-12-15

A 34-year-old man presenting with a left inguinal mass was diagnosed as having idiopathic multiple aneurysmal disease and pseudoaneurysm of a left superficial femoral artery. A stent-graft was successfully deployed percutaneously at the left superficial femoral artery pseudoaneurysm. Less invasive treatment should be used to avoid vascular complications in patients with idiopathic multiple aneurysmal disease, especially in those who have a progressive course or a history of prior complications after surgical repair.

Sleep apnea, daytime somnolence, and idiopathic dizziness--a novel association.

PubMed

Sowerby, Leigh J; Rotenberg, Brian; Brine, Meggan; George, Charles F P; Parnes, Lorne S

2010-06-01

To determine if an association exists between sleep apnea, daytime somnolence, and chronic idiopathic dizziness. Case-control study of new patients presenting to a tertiary neuro-otologic practice. A total of 46 subjects with idiopathic dizziness (ID), 20 positive controls with dizziness (benign paroxysmal positional vertigo [BPV]), and 69 negative controls with hearing loss (HL) but no dizziness were enrolled. Participants who were patients diagnosed with the above conditions and who met all other inclusion criteria completed a sleep questionnaire and had a complete physical exam and investigations to establish or exclude a neuro-otologic diagnosis. They were subsequently evaluated for risk of symptomatic sleep disturbance based on the Epworth Sleepiness Scale (ESS), the Berlin Questionnaire, and the Multivariable Apnea Risk Index (MAP). Statistical analysis was carried out using SPSS (SPSS Inc., Chicago, IL). There was no significant demographic difference among the groups in terms of age, sex, body mass index, neck size, alcohol consumption, or smoking. Using a cutoff of both 10 and 12 on the ESS, the ID were more likely to have significant daytime somnolence than the HL group, with a likelihood ratio (LR) of 7.8 for the ESS 12 score (P = .021) and 7.1 for the ESS 10 score (P = .029). Using the MAP score, a statistically significant difference between the ID group and both the BPV group (LR 3.99, P = .046) and the HL group (LR 5.46, P = .019) was found. This study suggests that a previously undescribed link between idiopathic dizziness, daytime somnolence, and sleep apnea might exist. Prospective investigation is warranted to determine whether treatment of any sleep issues resolves symptoms of idiopathic dizziness.

Significant increase in the apparent incidence of essential thrombocythemia related to new WHO diagnostic criteria: a population-based study

PubMed Central

Girodon, François; Bonicelli, Gilles; Schaeffer, Céline; Mounier, Morgane; Carillo, Serge; Lafon, Ingrid; Carli, Paule Marie; Janoray, Inès; Ferrant, Emmanuelle; Maynadié, Marc

2009-01-01

To observe the effect of the new World Health Organization (WHO) criteria on the incidence of myeloproliferative neoplasms, we performed a retrospective study of a population-based registry in the Côte d’Or area, France, from 1980 to 2007. A total of 524 myeloproliferative neoplasms were registered for the 1980–2007 period, including 135 polycythemia vera, 308 essential thrombocythemia and 81 idiopathic myelofibroses. No change in the incidence of either polycythemia vera or idiopathic myelofibrosis was observed for the 2005–2007 period, compared to 1980–2004. On the contrary, a pronounced increase in the incidence of essential thrombocythemia was noted after 2005, mainly due to the use of JAK2 mutation screening and a lower threshold of platelet count. Our study confirms the relevance of the new WHO diagnostic criteria in allowing earlier diagnosis of essential thrombocythemia. PMID:19377078

[Vitrectomy for idiopathic and secondary preretinal macular membrane].

PubMed

Oficjalska-Młyńczak, Jolanta; Jamrozy-Witkowska, Agnieszka

2004-01-01

To evaluate the results of pars plana vitrectomy and membrane stripping for idiopathic and secondary preretinal macular membrane (PMM). Twenty one consecutive subjects (21 eyes) ranging in age from 40 to 78 (mean 66.9) with PMM underwent vitrectomy and membrane peeling. 17 cases had membranes that were considered idiopathic, and 4 cases were associated with other disorders: 3 occurred after successful retinal reattachment surgery, 1--after laserotherapy in the course of diabetic retinopathy. Visual acuity (VA), Amsler grid, and postoperative complications were assessed. The follow-up was 1 to 22 months, mean 5.7. Visual acuity improved postoperatively in 15 eyes (71.4%), at least two lines on the Snellen chart in 8 eyes (38.1%), entirely in patients with idiopathic PMM. It remained unchanged in 3 eyes (14.3%) and deteriorated in 3 eyes (14.3%). Eyes with transparent membrane showed greater visual improvement than opaque ones. The preoperative Amsler test was positive in 15 patients (71.4%), postoperatively--in 4 cases (19%). 2 idiopathic cases with VA of 0.7 showed postoperatively VA of 1.0. Complications included retinal detachment in 2 eyes (1 in idiopathic and 1 in secondary PMM), and development of nuclear sclerotic cataract in 2 eyes. At 6 months of follow-up, a residual membrane formation in 1 cases appeared. Macular pseudohole was observed in 1 eye with no impact on visual results. 1. Vitrectomy with membrane peeling for preretinal macular membrane provides improvement in visual acuity and reduces metamorphopsia 2. Thin, cellophane-like appearance of the membrane gives a better prognosis of visual function improvement.

Idiopathic hypersomnia: clinical features and response to treatment.

PubMed

Ali, Mohsin; Auger, R Robert; Slocumb, Nancy L; Morgenthaler, Timothy I

2009-12-15

A recent American Academy of Sleep Medicine publication identified a need for research regarding idiopathic hypersomnia. We describe various clinical and polysomnographic features of patients with idiopathic hypersomnia, with an emphasis on response to pharmacotherapy. A retrospective review of our database initially identified 997 patients, utilizing "idiopathic hypersomnia", "hypersomnia NOS", and "primary hypersomnia" as keywords. The charts of eligible patients were examined in detail, and data were abstracted and analyzed. Response to treatment was graded utilizing an internally developed scale. Eighty-five patients were ultimately identified (65% female). Median (interquartile range) ages of onset and diagnosis were 19.6 (15.5) and 33.7 (15.5), respectively. During a median follow-up duration of 2.4 (4.7) years, 65% of patients demonstrated a "complete response" to pharmacotherapy as assessed by the authors' grading schema. Methylphenidate was most commonly used as a first-line agent prior to December 1998, but subsequently, modafinil became the most common first drug. At the last recorded follow-up visit, 92% of patients were on monotherapy, with greater representation of methylphenidate versus modafinil (51% vs. 32%). Among these patients, methylphenidate produced a higher percentage of "complete" or "partial" responses than modafinil, although statistical significance was not reached (38/40 [95%] vs. 22/25 [88%], respectively, p = 0.291). The majority of patients with idiopathic hypersomnia respond well to treatment. Methylphenidate is chosen more often than modafinil as final monotherapy in the treatment of idiopathic hypersomnia, despite the fact that it is less commonly used initially. Further prospective comparisons of medications should be explored.

Idiopathic granulomatous mastitis associated with risperidone-induced hyperprolactinemia

PubMed Central

2012-01-01

Idiopathic granulomatous mastitis (IGM) is a rare inflammatory breast disease. The etiology and treatment options of IGM remain controversial. Previous case reports have suggested that hyperprolactinemia may be associated with IGM. In the present report, we describe the first case of IGM associated with risperidone-induced hyperprolactinemia. Virtual slides The virtual slide(s) for this article can be found here: http://www.diagnosticpathology.diagnomx.eu/vs/8120093785928228 PMID:22221904

Idiopathic constipation: A challenging but manageable problem.

PubMed

Bischoff, Andrea; Brisighelli, Giulia; Dickie, Belinda; Frischer, Jason; Levitt, Marc A; Peña, Alberto

2017-10-10

A protocol to treat idiopathic constipation is presented. A contrast enema is performed in every patient and, when indicated, patients are initially submitted to a "clean out" protocol. All patients are started on a Senna-based laxative. The initial dosage is empirically determined and adjusted daily, during a one week period, based on history and abdominal radiographs, until the amount of Senna that empties the colon is reached. The management is considered successful when patients empty their colon daily and stop soiling. If the laxatives dose provokes abdominal cramping, distension, and vomiting, without producing bowel movements, patients are considered nonmanageable. From 2005 to 2012, 215 patients were treated. 121 (56%) were males. The average age was 8.2years (range: 1-20). 160 patients (74%) presented encopresis. 67 patients (32%) needed a clean out. After one week, 181 patients (84%) achieved successful management, with an average Senna dose of 67mg (range: 5-175mg). In 34 patients (16%) the treatment was unsuccessful: 19 were nonmanageable, 3 noncompliant, and 12 continued soiling. At a later follow-up (median: 329days) the success rate for 174 patients was 81%. We designed a successful protocol to manage idiopathic constipation. The key points are clean out before starting laxatives, individual adjustments of laxative, and radiological monitoring of colonic emptying. Level IV. Copyright © 2017 Elsevier Inc. All rights reserved.

Pediatric Central Diabetes Insipidus: Brain Malformations Are Common and Few Patients Have Idiopathic Disease.

PubMed

Werny, David; Elfers, Clinton; Perez, Francisco A; Pihoker, Catherine; Roth, Christian L

2015-08-01

Pediatric cohorts of central diabetes insipidus (CDI) have shown varying prevalences for the different causes of CDI, including idiopathic. The objective of the study was to determine the causes of CDI at a pediatric tertiary care center and to characterize their clinical outcomes. All patients with CDI at Seattle Children's Hospital were identified and retrospectively analyzed. From 2000 to 2013, 147 patients with CDI were encountered (mean age 7 y at diagnosis, mean follow-up 6.2 y). The different causes of CDI were grouped, and age of diagnosis, anterior pituitary hormone deficiencies (APHDs), and presence of the posterior pituitary bright spot (PPBS) were analyzed. Patients with idiopathic CDI had infundibular thickening measured using a systematic method. Brain malformations caused 24% of CDI cases, and 12.2% were idiopathic. Four of 22 patients with initially idiopathic CDI were diagnosed with an underlying condition, none occurring later than 2.5 years from diagnosis. APHDs were as common in the brain malformation group as they were in the tumor/infiltrative group (72% vs 85%; P = .09). The PPBS was present in at least 13% of patients and in 19% of those with brain malformations. Patients with idiopathic CDI and stalk thickening on the initial magnetic resonance imaging were more likely to have an underlying diagnosis (40% vs 0%; P = .03). Brain malformations were a more common cause of pediatric CDI than previously reported. These patients have a high rate of APHDs, and many have persistence of the PPBS. Idiopathic CDI is an uncommon diagnosis, and none of our patients were diagnosed with Langerhans cell histiocytosis or germinoma for more than 3 years from CDI diagnosis. Providers can consider less frequent magnetic resonance imaging after this time point. A systematic method of infundibular measurement on the initial magnetic resonance imaging may predict an underlying germinoma or Langerhans cell histiocytosis.

Obesity is a significant susceptibility factor for idiopathic AA amyloidosis.

PubMed

Blank, Norbert; Hegenbart, Ute; Dietrich, Sascha; Brune, Maik; Beimler, Jörg; Röcken, Christoph; Müller-Tidow, Carsten; Lorenz, Hanns-Martin; Schönland, Stefan O

2018-03-01

To investigate obesity as susceptibility factor in patients with idiopathic AA amyloidosis. Clinical, biochemical and genetic data were obtained from 146 patients with AA amyloidosis. Control groups comprised 40 patients with long-standing inflammatory diseases without AA amyloidosis and 56 controls without any inflammatory disease. Patients with AA amyloidosis had either familial Mediterranean fever (FMF) or long-standing rheumatic diseases as underlying inflammatory disease (n = 111, median age 46 years). However, in a significant proportion of patients with AA amyloidosis no primary disease was identified (idiopathic AA; n = 37, median age 60 years). Patients with idiopathic AA amyloidosis were more obese and older than patients with AA amyloidosis secondary to FMF or rheumatic diseases. Serum leptin levels correlated with the body mass index (BMI) in all types of AA amyloidosis. Elevated leptin levels of more than 30 µg/l were detected in 18% of FMF/rheumatic + AA amyloidosis and in 40% of patients with idiopathic AA amyloidosis (p = .018). Finally, the SAA1 polymorphism was confirmed as a susceptibility factor for AA amyloidosis irrespective of the type of the disease. Obesity, age and the SAA1 polymorphism are susceptibility factors for idiopathic AA amyloidosis. Recent advances in treatment of FMF and rheumatic disorders will decrease the incidence of AA amyloidosis due to these diseases. Idiopathic AA, however, might be an emerging problem in the ageing and increasingly obese population.

Placental villous hypermaturation is associated with idiopathic preterm birth

PubMed Central

Morgan, Terry K.; Tolosa, Jorge E.; Mele, Lisa; Wapner, Ronald J.; Spong, Catherine Y.; Sorokin, Yoram; Dudley, Donald J.; Peaceman, Alan M.; Mercer, Brian M.; Thorp, John M.; O’Sullivan, Mary Jo; Ramin, Susan M.; Rouse, Dwight J.; Sibai, Baha

2014-01-01

Objective Pregnancy complications such as intra-amniotic infection, preeclampsia, and fetal intrauterine growth restriction (IUGR) account for most cases of preterm birth (PTB), but many spontaneous PTB cases do not have a clear etiology. We hypothesize that placental insufficiency may be a potential cause of idiopathic PTB. Methods Secondary analysis of 82 placental samples from women with PTB obtained from a multicenter trial of repeat versus single antenatal corticosteroids. Samples were centrally reviewed by a single placental pathologist masked to clinical outcomes. The histopathologic criterion for infection was the presence of acute chorioamnionitis defined as neutrophils marginating into the chorionic plate. Placental villous hypermaturation (PVH) was defined as a predominance of terminal villi (similar to term placenta) with extensive syncytial knotting. Idiopathic PTB comprised a group without another known etiology such as preeclampsia, IUGR or infection. Results Acute chorioamnionitis was observed in 33/82 (40%) cases. Other known causes of PTB were reported in 18/82 (22%). The remaining 31/82 (38%) were idiopathic. The frequency of PVH in idiopathic PTB (26/31=84%) was similar to cases with IUGR or preeclampsia (16/ 18=89%), but significantly more common than PVH in the group with acute chorioamnionitis (10/33=30%) (p<0.001). Conclusions PVH, which is a histologic marker of relative placental insufficiency, is a common finding in idiopathic PTB. PMID:23130816

Allelic variation of the FRMD7 gene in congenital idiopathic nystagmus.

PubMed

Self, James E; Shawkat, Fatima; Malpas, Crispin T; Thomas, N Simon; Harris, Christopher M; Hodgkins, Peter R; Chen, Xiaoli; Trump, Dorothy; Lotery, Andrew J

2007-09-01

To perform a genotype-phenotype correlation study in an X-linked congenital idiopathic nystagmus pedigree (pedigree 1) and to assess the allelic variance of the FRMD7 gene in congenital idiopathic nystagmus. Subjects from pedigree 1 underwent detailed clinical examination including nystagmology. Screening of FRMD7 was undertaken in pedigree 1 and in 37 other congenital idiopathic nystagmus probands and controls. Direct sequencing confirmed sequence changes. X-inactivation studies were performed in pedigree 1. The nystagmus phenotype was extremely variable in pedigree 1. We identified 2 FRMD7 mutations. However, 80% of X-linked families and 96% of simplex cases showed no mutations. X-inactivation studies demonstrated no clear causal link between skewing and variable penetrance. We confirm profound phenotypic variation in X-linked congenital idiopathic nystagmus pedigrees. We demonstrate that other congenital nystagmus genes exist besides FRMD7. We show that the role of X inactivation in variable penetrance is unclear in congenital idiopathic nystagmus. Clinical Relevance We demonstrate that phenotypic variation of nystagmus occurs in families with FRMD7 mutations. While FRMD7 mutations may be found in some cases of X-linked congenital idiopathic nystagmus, the diagnostic yield is low. X-inactivation assays are unhelpful as a test for carrier status for this disease.

Acute effects of spinal bracing on scapular kinematics in adolescent idiopathic scoliosis.

PubMed

Gur, Gozde; Turgut, Elif; Ayhan, Cigdem; Baltaci, Gul; Yakut, Yavuz

2017-08-01

Bracing is the most common nonsurgical treatment for adolescent idiopathic scoliosis. Spinal braces affect glenohumeral and scapulothoracic motion because they restrict trunk movements. However, the potential spinal-bracing effects on scapular kinematics are unknown. The present study aimed to investigate the acute effects of spinal bracing on scapular kinematics in adolescent idiopathic scoliosis. Scapular kinematics, including scapular internal/external rotation, posterior/anterior tilting, and downward/upward rotation during scapular plane elevation, were evaluated in 27 in-brace and out-of-brace adolescent idiopathic scoliosis patients with a three-dimensional electromagnetic tracking system. Data on the position and orientation of the scapula at 30°, 60°, 90°, and 120° humerothoracic elevation were used for statistical comparisons. The paired t-test was used to assess the differences between the mean values of in-brace and out-of-brace conditions. The in-brace condition showed significantly increased (P<0.05) scapular anterior tilting and decreased internal rotation in the resting position on the convex and concave sides; increased scapular downward rotation at 120° humerothoracic elevation on the convex side and at 30°, 60°, 90°, and 120° humerothoracic elevation on the concave side; increased scapular anterior tilt at 30°, 60°, 90°, and 120° humerothoracic elevation on the convex and concave sides; and decreased (P<0.05) maximal humerothoracic elevation of the arm. Spinal bracing affects scapular kinematics. Observed changes in scapular kinematics with brace may also affect upper extremity function for adolescents with idiopathic scoliosis. Therefore, clinicians should include assessments of the glenohumeral and scapulothoracic joints when designing rehabilitation protocols for patients with adolescent idiopathic scoliosis. Copyright © 2017 Elsevier Ltd. All rights reserved.

Imaging of juvenile idiopathic arthritis. Part I: Clinical classifications and radiographs

PubMed Central

Matuszewska, Genowefa; Gietka, Piotr; Płaza, Mateusz; Walentowska-Janowicz, Marta

2016-01-01

Juvenile idiopathic arthritis is the most common autoimmune systemic disease of the connective tissue affecting individuals at the developmental age. Radiography is the primary modality employed in the diagnostic imaging in order to identify changes typical of this disease entity and rule out other bone-related pathologies, such as neoplasms, posttraumatic changes, developmental defects and other forms of arthritis. The standard procedure involves the performance of comparative joint radiographs in two planes. Radiographic changes in juvenile idiopathic arthritis are detected in later stages of the disease. Bone structures are assessed in the first place. Radiographs can also indirectly indicate the presence of soft tissue inflammation (i.e. in joint cavities, sheaths and bursae) based on swelling and increased density of the soft tissue as well as dislocation of fat folds. Signs of articular cartilage defects are also seen in radiographs indirectly – based on joint space width changes. The first part of the publication presents the classification of juvenile idiopathic arthritis and discusses its radiographic images. The authors list the affected joints as well as explain the spectrum and specificity of radiographic signs resulting from inflammatory changes overlapping with those caused by the maturation of the skeletal system. Moreover, certain dilemmas associated with the monitoring of the disease are reviewed. The second part of the publication will explain issues associated with ultrasonography and magnetic resonance imaging, which are more and more commonly applied in juvenile idiopathic arthritis for early detection of pathological features as well as the disease complications. PMID:27679726

Varicella Zoster Virus Necrotizing Retinitis in Two Patients with Idiopathic CD4 Lymphocytopenia.

PubMed

Gupta, Meenakashi; Jardeleza, Maria Stephanie R; Kim, Ivana; Durand, Marlene L; Kim, Leo; Lobo, Ann-Marie

2016-10-01

Progressive outer retinal necrosis (PORN) associated with varicella zoster virus (VZV) is usually diagnosed in HIV positive or immunosuppressed patients. We report two cases of immunocompetent patients with necrotizing viral retinitis found to have idiopathic CD4 lymphocytopenia. Clinical presentation, examination, imaging, and laboratory testing of two patients with VZV retinitis are presented. An HIV negative patient with history of herpes zoster presented with rapid loss of vision and examination consistent with PORN. PCR testing confirmed VZV. Lymphocytopenia was noted with a CD4 count of 25/mm(3). A second HIV negative patient presented with blurred vision and lid swelling and was found to have peripheral VZV retinitis confirmed by PCR. Laboratory workup revealed lymphocytopenia with a CD4 count of 133/mm(3). VZV necrotizing retinitis classic for PORN can occur in HIV negative patients. Idiopathic CD4 lymphocytopenia should be considered healthy patients who develop ocular infections seen in the immunocompromised.

Fatal Disseminated Tuberculosis during Treatment with Ruxolitinib Plus Prednisolone in a Patient with Primary Myelofibrosis: A Case Report and Review of the Literature.

PubMed

Tsukamoto, Yasuhiro; Kiyasu, Junichi; Tsuda, Mariko; Ikeda, Motohiko; Shiratsuchi, Motoaki; Ogawa, Yoshihiro; Yufu, Yuji

2018-05-01

A 73-year-old man with primary myelofibrosis (PMF) was being treated with hydroxyurea, which was changed to ruxolitinib treatment because of worsening constitutional symptoms. Although ruxolitinib rapidly induced relief, he developed a high-grade fever. A comprehensive fever work-up found no apparent cause of the fever, except for PMF. Therefore, we increased the dose of ruxolitinib and added prednisolone, which was gradually withdrawn with resolution of the fever. However, the patient subsequently developed disseminated tuberculosis and died eight months after initiation of ruxolitinib. Our case highlights the importance of assessing and monitoring the immune status of patients receiving ruxolitinib.

Idiopathic orbital inflammatory disease successfully treated with rituximab.

PubMed

Schafranski, Marcelo Derbli

2009-02-01

We report a case of a 66-year-old Caucasian female with a diagnosis of idiopathic orbital inflammatory disease (OID) refractory to azathioprine therapy. The coexistence of diabetes mellitus represented a relative contraindication to chronic prednisone use. After two infusions of rituximab, a chimeric anti-CD20+ antibody, ophthalmic signs and symptoms remarkably improved. To our knowledge, this is the first case of idiopathic OID successfully treated with rituximab.

A comparative study of "Idiopathic catatonia" with catatonia in schizophrenia.

PubMed

Krishna, K R; Maniar, R C; Harbishettar, V S

2011-06-01

Catatonia has been defined as a cluster of signs and occurs secondary to or as a subgroup of schizophrenia, mood disorders or organic syndrome. This study specifically examined the distinct variety of catatonia that did not meet any standard psychiatric diagnostic criteria on globally recognised psychiatric rating tools and compared the clinical features with the catatonia that occurred in association with a diagnosis of schizophrenia. The inpatients in a tertiary psychiatric ward in Ahmedabad, India, between 2002 and 2005 who presented with two or more catatonic signs present for more than 24h period were assessed on Structured Clinical Interview for DSM IV tool. Those with catatonic signs that met diagnostic criteria for schizophrenia (n=21) were compared, with those without any disorder called Idiopathic catatonia (n=13), on measures of Bush Francis Catatonia Rating Scale (BFRCS), Brief Psychiatric Rating Scale (BPRS) and Scale for Assessment of Negative Symptoms (SANS). The scores on duration of illness (U=14.00; p<0.001) and mean BPRS (t=6.76; df=32; p<0.001) were significantly higher in schizophrenia group. The Idiopathic group had significantly higher scores on mean total BFCRS (t=-3.50; df=32; p=0.001) and also on subscores of negativism (p=0.02), waxy flexibility (p=0.02), mitgehen (p<0.05) and ambitendency (p=0.01). The results indicate that the Idiopathic catatonia present early in their course and have fewer general psychopathologies; however have higher number and severity of catatonic signs. The study also supports the current concept that there does exists, a distinct variety of catatonia that probably has its own course and prognosis, which need further consideration and more studies to explore this. Copyright © 2011. Published by Elsevier B.V.

Pathogenesis, Newly Recognized Etiologies, and Management of Idiopathic Anaphylaxis

PubMed Central

Kuhlen, James L.; Virkud, Yamini V.

2018-01-01

Idiopathic anaphylaxis (IA) is a life-threatening allergic disease and the most common diagnosis given to patients following an anaphylactic event. The inability of the healthcare provider and the patient to identify the trigger for anaphylaxis makes standard allergen avoidance measures ineffectual. IA is diagnosed after other causes of anaphylaxis have been excluded. Mast cell activation syndromes (MCAS), mastocytosis, IgE to galactose-alpha-1,3-galactose (α-gal), and certain medications have recently been recognized as causes of anaphylaxis that were previously labeled idiopathic. This review will describe the epidemiology and proposed theories of pathogenesis for IA, its diagnostic approach, its clinical management, and examine newly recognized disorders that were previously labeled as idiopathic anaphylaxis. PMID:25725228

Crohn's disease mistaken for long-standing idiopathic mesenteric panniculitis: A case report and management algorithm.

PubMed

Nuzzo, Alexandre; Zappa, Magaly; Cazals-Hatem, Dominique; Bouhnik, Yoram

2016-09-01

Mesenteric panniculitis (MP) is mostly an associated sign of an intra-abdominal or systemic inflammatory primary disease. Nevertheless, etiological and differential diagnosis of idiopathic MP can be challenging when an associate primary cause is not in the foreground. We report here the case of an isolated small bowel Crohn's disease, long time considered as idiopathic MP. This patient presented to our department with a 10-year history of acute abdominal symptoms evolving with flare-up and remission. A diagnosis of idiopathic MP was made based on compatible CT-scan features along with normal laboratory tests and upper and lower bowel endoscopies. As symptoms recurred, a steroid course was proposed which dramatically improved his condition for years. Finally, an explorative laparoscopy was performed because of concern of malignancy when he returned to our unit with a steroid refractory flare-up and weight loss, along with MP nodes growing up to 10 mm. Crohn's disease was eventually diagnosed, based on histopathological middle-gut bowel resection and numerous granulomas in mesenteric nodes without necrosis. This case emphasizes the importance of excluding inflammatory intestinal lesions before making the diagnosis of idiopathic MP (fecal calprotectin, magnetic resonance enterography, wireless capsule endoscopy).

Cisapride stimulates contraction of idiopathic megacolonic smooth muscle in cats.

PubMed

Hasler, A H; Washabau, R J

1997-01-01

We have previously shown that cisapride, a substituted piperidinyl benzamide, stimulates contraction of healthy feline colonic smooth muscle. The purpose of the present investigation was to determine the effect of cisapride on feline idiopathic megacolonic smooth muscle function. Longitudinal smooth muscle strips from ascending and descending colon were obtained from cats with idiopathic megacolon, suspended in a 1.5 mM Ca(2+)-HEPES buffer solution (37 degrees C, 100% O2, pH 7.4), attached to isometric force transducers, and stretched to optimal muscle length (Lo). Control responses were obtained at each muscle site with acetylcholine (10(-8) to 10(-4) M), substance P (10(-11) to 10(-7) M), or potassium chloride (10 to 80 mM). Muscles were then stimulated with cumulative (10(-9) to 10(-6) M) doses of cisapride in the absence or presence of tetrodotoxin (10(-6) M) and atropine (10(-6) M), or in a 0 calcium HEPES buffer solution. In cats with idiopathic megacolon, cisapride stimulated contractions of longitudinal smooth muscle from both the ascending and the descending colon. Cisapride-induced contractions were similar in magnitude to those induced by substance P and acetylcholine in the ascending colon, but were less than those observed in the descending colon. Cisapride-induced contractions in megacolonic smooth muscle were only partially inhibited by tetrodotoxin and atropine, but were virtually abolished by removal of extracellular calcium. We concluded that cisapride-induced contractions of feline megacolonic smooth muscle are largely smooth muscle mediated and dependent on influx of extracellular calcium. Cisapride-induced contractions in megacolonic smooth muscle are only partially dependent on enteric cholinergic nerves. Thus, cisapride may be useful in the treatment of cats with idiopathic megacolon.

Idiopathic autoimmune hemolytic anemia due to lecithin overdose: a case report

PubMed Central

2009-01-01

Introduction Idiopathic Autoimmune Hemolytic Anemia is a potentially fatal condition which requires prompt and potent treatment. Diagnosis of idiopathic autoimmune hemolytic anemia requires both serologic evidence of autoantibody presence and hemolysis. Although most of the times it is considered idiopathic, several underlying causes have been identified, like autoimmune and connective tissue diseases, viral infections, drugs or hyper function of the immune system. To our knowledge, this is the first case in the international literature describing lecithin-induced autoimmune hemolytic anemia. Case Presentation This case report is to highlight a rare but dangerous adverse reaction to overdose of lecithin. A 38 year old white female from Greece, presented to our emergency room with progressive fatigue over a period of ten days and icteric discoloration of her skin and conjunctiva. The patient had been taking lecithin supplements (1200 mg, 3 capsules a day) over a period of ten days for weight loss. She reports that the last 3 days, prior to the examination, she took 5 capsules/day, so that the supplement would take effect more rapidly. Her past medical, social and family history showed no disturbance. Relatives of the patient were requested to submit any blood-tests taken over a period of 20 days prior to the onset of symptoms caused by Lecithin. All tests proved that all functions were within normal scale. Her physical examination revealed pallor and jaundice without palpable hepatosplenomegaly. Blood biochemistry tests showed total bilirubin 7.5 mg/dl, with indirect bilirubin 6.4 mg/dl and complete blood count showed hemoglobin 7.6 g/dl with blood levels 21.4%. Conclusion In every case of idiopathic autoimmune hemolytic anemia the administration of pharmaceutical substances should always be examined, except for the standard reasons that cause it. In this case the cause of hemolysis was attributed to the excessive intake of lecithin capsules for the loss of body

Idiopathic scrotal calcinosis.

PubMed

Celik, Orcun; Ipekci, Tumay; Kazimoglu, Hatem

2013-12-01

Idiopathic scrotal calcinosis is a rare scrotal benign disease. Its distinct features are painless, non-pruritic, semi-soft palpable calcific transdermal nodules. We report a 42-year-old-man with asymptomatic multiple calcified scrotal skin nodules for 10 years. Under spinal anesthesia, the affected scrotal skin was excised and the nodules removed. We aim to explain the etiology, pathophysiology, diagnosis, and treatment modalities of this rare disease.

Idiopath=ic Granulomatous Lobular Mastitis Masquerading as a Breast Tumor: A Case Report

PubMed Central

Raman R, Thulasi; Manimaran, D

2016-01-01

Introduction Idiopathic granulomatous lobular mastitis (IGLM) is an inflammatory disease of the breast with an obscure etiology. It occurs mainly in women of reproductive age, and the lesion mimics carcinoma of the breast both clinically and radiologically Case Presentation We present the case of a 29-year-old female who visited our hospital in Kancheepuram, Tamil Nadu, with a 4 × 3 cm lump in the upper outer quadrant of her left breast. The clinical and radiological findings were indicative of a malignant lesion; however, fine-needle aspiration cytology (FNAC) revealed features of granulomatous mastitis, and the subsequent histology of the excised lump confirmed the diagnosis of IGLM. Conclusions IGLM should be considered as one of the differential diagnoses when granulomas are encountered in breast FNAC and biopsy. A definitive diagnosis of IGLM can be made by identifying its characteristic histomorphology and ruling out other causes for granulomatous inflammation. An exact diagnosis is essential since the treatment for different granulomatous conditions of the breast varies. PMID:27437133

Conservative treatment of idiopathic spontaneous pneumoperitoneum in a bedridden patient: a case report.

PubMed

Tanaka, Ryo; Kameyama, Hitoshi; Nagahashi, Masayuki; Kanda, Tatsuo; Ichikawa, Hiroshi; Hanyu, Takaaki; Ishikawa, Takashi; Kobayashi, Takashi; Sakata, Jun; Kosugi, Shin-Ichi; Wakai, Toshifumi

2015-01-01

Idiopathic spontaneous pneumoperitoneum is a rare condition that is characterized by intraperitoneal gas for which no clear etiology has been identified. We report here a case of idiopathic spontaneous pneumoperitoneum, which was successfully managed by conservative treatment. A 77-year-old woman who was bedridden with speech disability as a sequela of brain hemorrhage presented at our hospital with a 1-day history of abdominal distention. On physical examination, she had stable vital signs and slight epigastric tenderness on deep palpation without any other signs of peritonitis. A chest radiograph and computed tomography showed that a large amount of free gas extended into the upper abdominal cavity. Esophagogastroduodenoscopy revealed no perforation of the upper gastrointestinal tract. The patient was diagnosed with idiopathic spontaneous pneumoperitoneum, and conservative treatment was selected. The abdominal distension rapidly disappeared, and the patient resumed oral intake on the 5th hospital day without deterioration of symptoms. Knowledge of this rare disease and accurate diagnosis with findings of clinical imaging might contribute towards refraining from unnecessary laparotomy.

A procedure to detect abnormal sensorimotor control in adolescents with idiopathic scoliosis.

PubMed

Pialasse, Jean-Philippe; Mercier, Pierre; Descarreaux, Martin; Simoneau, Martin

2017-09-01

This work identifies, among adolescents with idiopathic scoliosis, those demonstrating impaired sensorimotor control through a classification procedure comparing the amplitude of their vestibular-evoked postural responses. The sensorimotor control of healthy adolescents (n=17) and adolescents with idiopathic scoliosis (n=52) with either mild (Cobb angle≥15° and ≤30°) or severe (Cobb angle >30°) spine deformation was assessed through galvanic vestibular stimulation. A classification procedure sorted out adolescents with idiopathic scoliosis whether the amplitude of their vestibular-evoked postural response was dissimilar or similar to controls. Compared to controls, galvanic vestibular stimulation evoked larger postural response in adolescents with idiopathic scoliosis. Nonetheless, the classification procedure revealed that only 42.5% of all patients showed impaired sensorimotor control. Consequently, identifying patients with sensorimotor control impairment would allow to apply personalized treatments, help clinicians to establish prognosis and hopefully improve the condition of patients with adolescent idiopathic scoliosis. Copyright © 2017 Elsevier B.V. All rights reserved.

Which patients with myelofibrosis should receive ruxolitinib therapy? ELN-SIE evidence-based recommendations.

PubMed

Marchetti, M; Barosi, G; Cervantes, F; Birgegård, G; Griesshammer, M; Harrison, C; Hehlmann, R; Kiladjian, J-J; Kröger, N; McMullin, M F; Passamonti, F; Vannucchi, A; Barbui, T

2017-04-01

Ruxolitinib is an oral Janus-activated kinase 1 (JAK1)/JAK2 inhibitor approved for the treatment of patients with myelofibrosis based on the results of two randomized clinical trials. However, discordant indications were provided by regulatory agencies and scientific societies for selecting the most appropriate candidates to this drug. The European LeukemiaNet and the Italian Society of Hematology shared the aim of building evidence-based recommendations for the use of ruxolitinib according to the GRADE methodology. Eighteen patient-intervention-comparator-outcome profiles were listed, each of them comparing ruxolitinib to other therapies with the aim of improving one of the three clinical outcomes: (a) splenomegaly, (b) disease-related symptoms, and (c) survival. Ruxolitinib was strongly recommended for improving symptomatic or severe (>15 cm below the costal margin) splenomegaly in patients with an International Prognostic Scoring System (IPSS)/dynamic IPSS risk intermediate 2 or high. Ruxolitinib was also strongly recommended for improving systemic symptoms in patients with an MPN10 score >44, refractory severe itching, unintended weight loss not attributable to other causes or unexplained fever. Because of weak evidence, the panel does not recommend ruxolitinib therapy for improving survival. Also, the recommendations given above do not necessarily apply to patients who are candidates for allogeneic stem cell transplant.

Rest tremor in idiopathic adult-onset dystonia.

PubMed

Gigante, A F; Berardelli, A; Defazio, G

2016-05-01

Tremor in dystonia has been described as a postural or kinetic abnormality. In recent series, however, patients with idiopathic adult-onset dystonia also displayed rest tremor. The frequency and distribution of rest tremor were studied in a cohort of 173 consecutive Italian patients affected by various forms of idiopathic adult-onset dystonia attending our movement disorder clinic over 8 months. Examination revealed tremor in 59/173 patients (34%): 12 patients had head tremor, 34 patients had arm tremor, whilst 13 patients presented tremor in both sites. Head tremor was postural in all patients, whereas arm tremor was postural/kinetic in 28 patients, only at rest in one and both postural/kinetic and at rest in 18 patients. Patients with tremor were more likely to have segmental/multifocal dystonia. Patients who had rest tremor (either alone or associated with action tremor) had a higher age at dystonia onset and a greater frequency of dystonic arm involvement than patients with action tremor alone or without tremor. Both action and rest tremor are part of the tremor spectrum of adult-onset dystonia and are more frequently encountered in segmental/multifocal dystonia. The higher age at dystonia onset and the greater frequency of arm dystonia in patients with rest tremor may have pathophysiological implications and may account, at least in part, for the previous lack of identification of rest tremor as one possible type of tremor present in dystonia. © 2016 EAN.

Idiopathic Parkinson’s disease phenotype related to C9ORF72 repeat expansions: contribution of the neuropsychological assessment

PubMed Central

2013-01-01

Background Expanded GGGGCC hexanucleotide repeats in the non-coding region of the C9ORF72 gene was recently identified as being responsible for over 40% of the cases of amyotrophic lateral sclerosis associated with frontotemporal lobar degeneration, in various extrapyramidal syndromes including supranuclear gaze palsy and corticobasal degeneration, and in addition, has been found to be a rare genetic cause of isolated Parkinsonism. To our knowledge, there is no published data concerning the neuropsychological evaluation of patients diagnosed with idiopathic Parkinson’s disease related with C9ORF72 repeat expansions. Case presentation We report the results of the comprehensive neuropsychological evaluation in a newly described case in the literature (the sixth) of a patient presenting isolated idiopathic Parkinson’s disease associated with C9ORF72 repeat expansions. The decrease in the patient’s prefrontal functions resulted in a slight decrease in global efficiency. These abnormalities did not appear to be different, with respect to the deficit observed and the intensity of the cognitive impairment, from those classically observed in cases of sporadic idiopathic Parkinson’s disease. Our patient also exhibited a significant impairment in visual gnosis. Conclusions If confirmed in other patients, visuoperceptive deficits in idiopathic Parkinson’s disease could represent a red flag that should prompt the clinician to perform addition diagnostic procedures. A thorough neuropsychological assessment may prove to be useful for detecting idiopathic Parkinson’s disease in patients who are suspected of having repeat abnormalities of C9ORF72 expansions. PMID:23987827

Idiopathic central diabetes Insipidus.

PubMed

Grace, Mary; Balachandran, Venu; Menon, Sooraj

2011-10-01

Idiopathic central diabetes insipidus (CDI) is a rare disorder characterized clinically by polyuria and polydipsia, and an abnormal urinary concentration without any identified etiology. We report a case of central diabetes insipidus in a 60-year-old lady in the absence of secondary causes like trauma, infection, and infiltrative disorders of brain.

Clonal evolution revealed by whole genome sequencing in a case of primary myelofibrosis transformed to secondary acute myeloid leukemia.

PubMed

Engle, E K; Fisher, D A C; Miller, C A; McLellan, M D; Fulton, R S; Moore, D M; Wilson, R K; Ley, T J; Oh, S T

2015-04-01

Clonal architecture in myeloproliferative neoplasms (MPNs) is poorly understood. Here we report genomic analyses of a patient with primary myelofibrosis (PMF) transformed to secondary acute myeloid leukemia (sAML). Whole genome sequencing (WGS) was performed on PMF and sAML diagnosis samples, with skin included as a germline surrogate. Deep sequencing validation was performed on the WGS samples and an additional sample obtained during sAML remission/relapsed PMF. Clustering analysis of 649 validated somatic single-nucleotide variants revealed four distinct clonal groups, each including putative driver mutations. The first group (including JAK2 and U2AF1), representing the founding clone, included mutations with high frequency at all three disease stages. The second clonal group (including MYB) was present only in PMF, suggesting the presence of a clone that was dispensable for transformation. The third group (including ASXL1) contained mutations with low frequency in PMF and high frequency in subsequent samples, indicating evolution of the dominant clone with disease progression. The fourth clonal group (including IDH1 and RUNX1) was acquired at sAML transformation and was predominantly absent at sAML remission/relapsed PMF. Taken together, these findings illustrate the complex clonal dynamics associated with disease evolution in MPNs and sAML.

Ruxolitinib: long-term management of patients with myelofibrosis and future directions in the treatment of myeloproliferative neoplasms.

PubMed

Yacoub, A; Odenike, O; Verstovsek, S

2014-12-01

Considerable clinical experience regarding the long-term efficacy and safety of ruxolitinib has been gathered since the drug was approved in the USA for patients with intermediate or high-risk myelofibrosis (MF) in November 2011. Findings from the pivotal phase 3 COMFORT studies showed that ruxolitinib-associated reductions in MF-related splenomegaly and symptom burden occur rapidly and in the majority of patients. Two- and 3-year follow-up data further suggest that the benefits of ruxolitinib are durable and associated with a survival advantage compared with conventional therapies. However, careful management of treatment-related thrombocytopenia and anemia with dose modifications and supportive care is critical to allow chronic therapy. Based on preliminary evidence, ruxolitinib also allows spleen size and symptom reduction before allogeneic stem cell transplantation without negative effect on engraftment or outcomes. In recent studies, ruxolitinib provided effective management of hematologic parameters and symptoms in patients with polycythemia vera refractory to or intolerant of hydroxyurea.

Efficacy of nighttime brace in preventing progression of idiopathic scoliosis of less than 25°.

PubMed

Lateur, G; Grobost, P; Gerbelot, J; Eid, A; Griffet, J; Courvoisier, A

2017-04-01

The objective of the present study was to assess, at skeletal maturity, the efficacy of non-operative treatment by isolated nighttime brace in the prevention of progression of progressive idiopathic scoliosis of less than 25°. Isolated nighttime brace treatment is effective in the prevention of progression of mild progressive idiopathic scoliosis (Cobb<25°). A single-center retrospective study included 142 patients managed by nighttime brace for progressive idiopathic scoliosis with Cobb angle<25°, with assessment at skeletal maturity. Mean Cobb angle at start of treatment was 15.5° (range, 10-25°). Mean values for Cobb angle and sagittal parameters before treatment and at skeletal maturity were compared on Student t-test. Change in Cobb angle over time was also analyzed. Mean Cobb angle at skeletal maturity was 16.3°, showing significant increase over baseline (15.5°; P=0.04), although the difference was less than the uncertainty of measurement (±6°). In baseline Risser 0 or 1, mean change in Cobb angle at skeletal maturity (16.2°) was not significant (P=0.1). Cobb angle diminished in 26 cases (18%), increased in 24 (17%) and was unchanged in 92 (65%). The present study confirmed the efficacy of non-operative treatment by nighttime brace in mild progressive idiopathic scoliosis (<25°) in a large majority of cases. A nighttime brace thus seems to be an effective option for the treatment of adolescent scoliosis, ensuring a safe curve of around 20°. Level IV, retrospective study. Copyright © 2016 Elsevier Masson SAS. All rights reserved.

Outcome of Radiofrequency Catheter Ablation as a non-pharmacological therapy for idiopathic Ventricular Tachycardia.

PubMed

Samore, Naseer Ahmed; Imran Majeed, Syed Muhammad; Kayani, Azhar Mahmud; Bhalli, Muhammad Asif; Shabbir, Muhammad

2009-09-01

To determine the outcome of Radiofrequency Catheter Ablation (RFCA) as a non-pharmacological curative therapy for idiopathic Ventricular Tachycardia (VT) and to identify procedure-related complications. Descriptive study. The Armed Forces Institute of Cardiology and National Institute of Heart Diseases, Rawalpindi, from February 2001 to October 2008. Ninety eight consecutive patients with idiopathic VT, resistant to drug therapy, who underwent Electrophysiology Studies (EPS) radiofrequency catheter ablation were enrolled. Clinical and electrophysiological variables were recorded and a descriptive analysis was done. Out of the 98 patients, 79 were males (80.6%). The mean age was 33.29+11.93 years. Modes of presentation were sustained VT, Repetitive Monomorphic VT (RMVT), Non-sustained VT (NSVT) and Ventricular Premature Beats (VPBs). Right Ventricular Outflow Tract (RVOT) VT was found in 37 patients, 37 had Idiopathic Left Ventricular Tachycardia (ILVT), 20 had Left Ventricular Outflow Tract (LVOT) VT, and Inflow Right Ventricular Tachycardia (IRVT) was found in 7 patients. Other sites of origin of VT were infrequent. Eight patients had dual morphologies of VT. Atrioventricular Nodal Re-entry Tachycardia (AVNRT) was found in 8 patients. RFCA was successful in abolishing inducible VT in 88 patients. One patient developed complete AV block requiring a permanent pacemaker. Results of this study confirm a high degree of success and safety of radiofrequency catheter ablation as curative therapy for idiopathic ventricular tachycardia.

Idiopathic Bilateral External Jugular Vein Thrombosis.

PubMed

Hindi, Zakaria; Fadhel, Ehab

2015-08-20

Vein thrombosis is mainly determined by 3 factors, which constitute a triad called Virchow's triad: hypercoagulability, stasis, and endothelial injury. Venous thrombosis commonly occurs in the lower extremities since most of the blood resides there and flows against gravity. The veins of the lower extremities are dependent on intact valves and fully functional leg muscles. However, in case of valvular incompetency or muscular weakness, thrombosis and blood stasis will occur as a result. In contrast, the veins of the neck, specially the jugulars, have distensible walls which allow flexibility during respiration. In addition, the blood directly flows downward towards the heart. Nevertheless, many case reports mentioned the thrombosis of internal jugular veins and external jugular veins with identified risk factors. Jugular vein thrombosis has previously been associated in the literature with a variety of medical conditions, including malignancy. This report is of a case of idiopathic bilateral external jugular vein thrombosis in a 21 year-old male construction worker of Southeast Asian origin with no previous medical history who presented with bilateral facial puffiness of gradual onset over 1 month. Doppler ultrasound and computed tomography were used in the diagnosis. Further work-up showed no evidence of infection or neoplasia. The patient was eventually discharged on warfarin. The patient was assessed after 6 months and his symptoms had resolved completely. Bilateral idiopathic external jugular veins thrombosis is extremely rare and can be an indicator of early malignancy or hidden infection. While previous reports in the literature have associated jugular vein thrombosis with malignancy, the present case shows that external jugular vein thrombosis can also be found in persons without malignancy.

Idiopathic sclerosing encapsulating peritonitis (or abdominal cocoon).

PubMed

Serafimidis, Costas; Katsarolis, Ioannis; Vernadakis, Spyros; Rallis, George; Giannopoulos, George; Legakis, Nikolaos; Peros, George

2006-02-13

Idiopathic sclerosing encapsulating peritonitis (or abdominal cocoon) is a rare cause of small bowel obstruction, especially in adult population. Diagnosis is usually incidental at laparotomy. We discuss one such rare case, outlining the fact that an intra-operative surprise diagnosis could have been facilitated by previous investigations. A 56 year-old man presented in A&E department with small bowel ileus. He had a history of 6 similar episodes of small bowel obstruction in the past 4 years, which resolved with conservative treatment. Pre-operative work-up did not reveal any specific etiology. At laparotomy, a fibrous capsule was revealed, in which small bowel loops were encased, with the presence of interloop adhesions. A diagnosis of abdominal cocoon was established and extensive adhesiolysis was performed. The patient had an uneventful recovery and follow-up. Idiopathic sclerosing encapsulating peritonitis, although rare, may be the cause of a common surgical emergency such as small bowel ileus, especially in cases with attacks of non-strangulating obstruction in the same individual. A high index of clinical suspicion may be generated by the recurrent character of small bowel ileus combined with relevant imaging findings and lack of other plausible etiologies. Clinicians must rigorously pursue a preoperative diagnosis, as it may prevent a "surprise" upon laparotomy and result in proper management.

HISTOPATHOLOGICAL PATTERNS IN PAEDIATRIC IDIOPATHIC STEROID RESISTANT NEPHROTIC SYNDROME.

PubMed

Shah, Syed Sajid Hussain; Akhtar, Naureen; Sunbleen, Faiza; ur Rehman, Mohammad Fahim; Ahmed, Tausif

2015-01-01

Steroid-resistant nephrotic syndrome (SRNS) is a common problem but difficult to treat for pediatric nephrologists. Due to paucity of studies done in few centres in southern Pakistan regarding the histopathological aspects in paediatric patients with SRNS, this study was conducted to determine the histopathological spectrum in children with SRNS at our centre. This descriptive study has been conducted at the Nephrology department, The Children's Hospital Lahore from February 2014 to January 2015. Based upon history, physical examination and laboratory results, all patients diagnosed as idiopathic SRNS were included in the study and renal biopsy was done to determine the underlying pathology. Histopathology reports were retrieved and data analysis done using SPSS-20.0. There were a total of 96 patients, 64 (66.7%) males and 32 (33.3%) females. The age range was from 0.80 to 15 years with mean age of presentation being 6.34+3.75 years. The most common histo-pathological pattern was mesangio-proliferative Glomerulonephritis found in 79 (82.3%) cases followed by Focal segmental glomerulosclerosis (FSGS) in 9 (9.4%) patients while Minimal change disease (MCD) was seen in 5 (5.2%) subjects. Mesangioproliferative glomerulonephritis is the most common histological pattern seen in children presenting with idiopathic SRNS at our centre followed by FSGS and MCD.

Non-surgical periodontal therapy improves serum levels of C-reactive protein and edematous states in female patients with idiopathic edema.

PubMed

Joseph, Rosamma; Narayan, Vivek; Krishnan, Rajaratnam; Melemadathil, Sreelatha

2011-02-01

The relationship between periodontal disease and systemic disease is revealing new and exciting associations. Idiopathic edema presents a clinical syndrome with obscure pathophysiology. The present study investigates whether non-surgical periodontal therapy is beneficial in patients who are not responding to conventional treatment of idiopathic edema. Thirty patients with idiopathic edema were allocated to intervention and control groups. All the subjects were assessed for systemic (body weight, body mass index, visual scale of edema, serum C-reactive protein, and serum albumin) and periodontal (plaque index, calculus index, and gingival index) parameters. Non-surgical periodontal therapy, including oral hygiene instructions, scaling and root planing, and systemic antibiotic therapy, was provided in the intervention group. Both groups were reevaluated after 4 weeks. Both groups were comparable at baseline. All parameters, except serum albumin, showed significant improvement after periodontal therapy. The control group showed further worsening of these parameters. This study shows that sources for systemic inflammation, such as periodontal disease, could affect the pathogenesis of idiopathic edema. Successful elimination of such covert sources of inflammation leads to a clinical benefit in patients who are distressed by this condition.

Familial or Sporadic Idiopathic Scoliosis – classification based on artificial neural network and GAPDH and ACTB transcription profile

PubMed Central

2013-01-01

Background Importance of hereditary factors in the etiology of Idiopathic Scoliosis is widely accepted. In clinical practice some of the IS patients present with positive familial history of the deformity and some do not. Traditionally about 90% of patients have been considered as sporadic cases without familial recurrence. However the exact proportion of Familial and Sporadic Idiopathic Scoliosis is still unknown. Housekeeping genes encode proteins that are usually essential for the maintenance of basic cellular functions. ACTB and GAPDH are two housekeeping genes encoding respectively a cytoskeletal protein β-actin, and glyceraldehyde-3-phosphate dehydrogenase, an enzyme of glycolysis. Although their expression levels can fluctuate between different tissues and persons, human housekeeping genes seem to exhibit a preserved tissue-wide expression ranking order. It was hypothesized that expression ranking order of two representative housekeeping genes ACTB and GAPDH might be disturbed in the tissues of patients with Familial Idiopathic Scoliosis (with positive family history of idiopathic scoliosis) opposed to the patients with no family members affected (Sporadic Idiopathic Scoliosis). An artificial neural network (ANN) was developed that could serve to differentiate between familial and sporadic cases of idiopathic scoliosis based on the expression levels of ACTB and GAPDH in different tissues of scoliotic patients. The aim of the study was to investigate whether the expression levels of ACTB and GAPDH in different tissues of idiopathic scoliosis patients could be used as a source of data for specially developed artificial neural network in order to predict the positive family history of index patient. Results The comparison of developed models showed, that the most satisfactory classification accuracy was achieved for ANN model with 18 nodes in the first hidden layer and 16 nodes in the second hidden layer. The classification accuracy for positive Idiopathic

Disease of the year: juvenile idiopathic arthritis--differential diagnosis.

PubMed

Hu-Torres, Sandra; Foster, C Stephen

2014-02-01

The purpose of this review is to comprehensively explain the differential diagnosis of juvenile idiopathic arthritis-associated uveitis. Web-based literature review. Main diagnostic decisions are made through a thorough anterior segment exam and a comprehensive exploration of past medical and family history. High clinical suspicion of other uveitic entities occurring in children is necessary and must be excluded by the practitioner before immediate diagnosis of juvenile idiopathic arthritis is made.

Evidence for human leukocyte antigen-related susceptibility in idiopathic childhood ischemic stroke.

PubMed

Zou, Li-Ping; Guo, Yu-Hong; Fang, Fang; Jin, Hong; Wu, Hu-Sheng; Mix, Eilhard

2002-01-01

Stroke in children is a relatively uncommon condition and frequently associated with other diseases like cardiopathies, sickle cell disease and chronic smoking. In contrast to stroke in adults, it is rarely caused by atherosclerosis, hypertension or diabetes mellitus. Childhood stroke of unknown causes is called idiopathic stroke. The etiology of idiopathic stroke is unknown. However, several so-called idiopathic diseases develop on the basis of a genetic predisposition. As an approach to investigate this possibility in idiopathic childhood ischemic stroke, we studied the relationship between clinical and immunogenetic features in this disease. We demonstrate that the gene frequencies and relative risk of HLA-B51 were markedly increased in our patients compared with controls (p < 0.001). Thirteen of seventeen HLA-B51-positive patients had had a preceding respiratory infection, which was a higher proportion than in the control group (p < 0.05). In the patient group, the alleles HLA-DRB1*0802, -DRAI*0401 and -DQBI*0402 were also significantly increased, defining the haplotype DRB1*0802-DRA1*0401-DQB1*0402 as a high-risk haplotype for idiopathic childhood ischemic stroke. Transient viral or bacterial infections, which involve vasculitis and vascular occlusion in the brain, can trigger idiopathic childhood ischemic stroke on the basis of an genetic predisposition. Copyright 2002 S. Karger AG, Basel

Idiopathic hypercalciuria and formation of calcium renal stones

PubMed Central

Coe, Fredric L.; Worcester, Elaine M.; Evan, Andrew P.

2018-01-01

The most common presentation of nephrolithiasis is idiopathic calcium stones in patients without systemic disease. Most stones are primarily composed of calcium oxalate and form on a base of interstitial apatite deposits, known as Randall’s plaque. By contrast some stones are composed largely of calcium phosphate, as either hydroxyapatite or brushite (calcium monohydrogen phosphate), and are usually accompanied by deposits of calcium phosphate in the Bellini ducts. These deposits result in local tissue damage and might serve as a site of mineral overgrowth. Stone formation is driven by supersaturation of urine with calcium oxalate and brushite. The level of supersaturation is related to fluid intake as well as to the levels of urinary citrate and calcium. Risk of stone formation is increased when urine citrate excretion is <400 mg per day, and treatment with potassium citrate has been used to prevent stones. Urine calcium levels >200 mg per day also increase stone risk and often result in negative calcium balance. Reduced renal calcium reabsorption has a role in idiopathic hypercalciuria. Low sodium diets and thiazide-type diuretics lower urine calcium levels and potentially reduce the risk of stone recurrence and bone diseas PMID:27452364

Milia-like idiopathic calcinosis cutis in a child with Down syndrome.

PubMed

Kumar, Piyush; Savant, Sushil S; Nimisha, Esther; Das, Anupam; Debbarman, Panchami

2016-05-15

Idiopathic calcinosis cutis refers to progressive deposition of crystals of calcium phosphate in the skin and other areas of the body, in the absence of any inciting factor. Idiopathic calcinosis cutis may sometimes take the form of small, milia-like lesions. Most commonly, such milia like lesions are seen in the setting of Down syndrome. Herein, we report a 5-year-old girl with multiple asymptomatic discrete milia-like firm papules distributed over the face and extremities. A diagnosis of milia-like idiopathic calcinosis cutis associated with Down Syndrome was provisionally made and was confirmed by histopathology and karyotyping.

Bayesian comparative effectiveness study of four consensus treatment plans for initial management of systemic juvenile idiopathic arthritis: FiRst-Line Options for Systemic juvenile idiopathic arthritis Treatment (FROST).

PubMed

Nigrovic, Peter A; Beukelman, Timothy; Tomlinson, George; Feldman, Brian M; Schanberg, Laura E; Kimura, Yukiko

2018-06-01

Systemic juvenile idiopathic arthritis is a rare febrile arthritis of childhood characterized by a potentially severe course, including prolonged glucocorticoid exposure, growth failure, destructive arthritis, and life-threatening macrophage activation syndrome. Early cytokine-blocking biologic therapy may improve long-term outcomes, although some systemic juvenile idiopathic arthritis patients respond well to non-biologic treatment, leaving optimal management undefined. Consequently, treatment of new-onset systemic juvenile idiopathic arthritis by expert clinicians varies widely. To describe a pragmatic, observational comparative effectiveness study that takes advantage of diversity in the management of a rare disease: FiRst-Line Options for Systemic juvenile idiopathic arthritis Treatment (FROST), comparing non-biologic and biologic consensus treatment plans for new-onset systemic juvenile idiopathic arthritis within the 60-center Childhood Arthritis and Rheumatology Research Alliance Registry (CARRA). FiRst-Line Options for Systemic juvenile idiopathic arthritis Treatment (FROST) is a multicenter, prospective, non-randomized study that compares four Childhood Arthritis and Rheumatology Research Alliance (CARRA) consensus treatment plans for new-onset systemic juvenile idiopathic arthritis: (1) glucocorticoids alone, (2) methotrexate, (3) interleukin-1 blockade, and (4) interleukin-6 blockade. Patients consenting to participation in the Childhood Arthritis and Rheumatology Research Alliance (CARRA) Registry are started on one of four Consensus Treatment Plans at the discretion of the treating physician. The outcome of primary interest is clinically inactive disease off glucocorticoids at 9 months, comparing non-biologic (Consensus Treatment Plans 1 + 2) versus biologic (Consensus Treatment Plans 3 + 4) strategies. Bayesian analytic methods will be employed to evaluate response rates, using propensity scoring to balance treatment groups for potential

Time for a change: is idiopathic pulmonary fibrosis still idiopathic and only fibrotic?

PubMed Central

Wolters, Paul J; Blackwell, Timothy S; Eickelberg, Oliver; Loyd, James E; Kaminski, Naftali; Jenkins, Gisli; Maher, Toby M; Molina-Molina, Maria; Noble, Paul W; Raghu, Ganesh; Richeldi, Luca; Schwarz, Marvin I; Selman, Moises; Wuyts, Wim A; Schwartz, David A

2018-01-01

Idiopathic pulmonary fibrosis (IPF) is a progressive, irreversible, and typically fatal lung disease characterised by subpleural fibrosis, subepithelial fibroblast foci, and microscopic honeycombing. Although understanding of the pathogenic mechanisms continues to evolve, evidence indicates that distal airway and alveolar epithelial cells are central drivers of the disease. In this Viewpoint, we review the history of naming and classifications used to define the disease now referred to as IPF, in the context of understanding the clinical presentation, causes, and pathogenesis of the disease. We aim to generate discussion on whether, given the substantial progress made in understanding the clinical, genetic, cellular, and molecular mechanisms involved in the development of IPF, a change of name should be considered. To initiate this discussion, we offer new suggestions to update the name of this disease and new approaches to classify all forms of pulmonary fibrosis. PMID:29413083

Ruxolitinib for the management of myelofibrosis: Results of an international physician survey.

PubMed

Ellis, Martin H; Koren-Michowitz, Maya; Lavi, Noa; Vannucchi, Alessandro M; Mesa, Ruben; Harrison, Claire N

2017-10-01

Ruxolitinib is established as treatment for symptomatic myeloproliferative neoplasm (MPN)-associated myelofibrosis. The strict inclusion and exclusion criteria and dose modification rules that applied to the COMFORTI and II studies that led to the licensing of ruxolitinib are not always applicable to routine clinical practice. Thus physicians now face decisions regarding ruxolitinib use that were not addressed in these pivotal trials. We performed an online survey of hematologists practicing in Europe, Israel, the United Kingdom and the United States. Demographic details regarding the physicians and their practice as relates to MPNs were collected. Management decisions pertaining to the use of ruxolitinib were obtained regarding 10 clinical scenarios relating to anemia, thrombocytopenia, frailty, infection and lack or loss of response to ruxolitnib in MF patients. 140 physicians responded to the survey. There were marked differences regarding their decisions for ruxolitinib administration in MF patients with or developing anemia or thrombocytopenia. Similarly there was little consensus regarding management of patients refractory or losing a response to ruxolitinib. There were differences between "MPN-focused" and "non-MPN-focused" physicians in certain areas. Physician practices regarding management of MF patients experiencing ruxolitinib-related toxicities or in whom response to the drug is lost was variable. This was true of "MPN-focused" and "non-MPN-focused" physicians in certain cases. Physician education and experience in using ruxolitinib may improve patient management. Copyright © 2017 Elsevier Ltd. All rights reserved.

[The spa and health resort- based treatment of back pain syndrome in the adolescents presenting with juvenile idiopathic scoliosis].

PubMed

Kravtsova, E Yu; Murav'ev, S V; Kravtsov, Yu I

The relevance of the problem arises from the lack of substantiation for the inclusion of transcutaneous spinal direct current stimulation (tSDCS) in the comprehensive spa and health resort-based treatment of back pain syndrome in the adolescents presenting with juvenile idiopathic scoliosis. The objective of the present study was to demonstrate the effectiveness of transcutaneous spinal direct current stimulation for the comprehensive spa and health resort-based treatment of back pain syndrome in the adolescents presenting with juvenile idiopathic scoliosis. A total of 18 patients with scoliosis forming the study group 1 received the traditional comprehensive spa and health resort-based treatment. The course of transcutaneous spinal direct current stimulation was prescribed to 38 other patients (comprising group 2) in addition to the standard procedures. Another control group was comprised of 15 practically healthy adolescents having no signs of spinal deformations. The visual analog scale for pain, the McGill questionnaire, the scale for the assessment of the situational and personal uneasiness levels (Spilberger Ch.D., Khanin Yu.L.), and the Beck and Tsung depression scales were used, beside the routine clinical methods. Statistical data processing was carried out with the use of the Statistica 6.0 software package. In the group of patients treated with the use of transcutaneous spinal direct current stimulation, regression of pain syndrome was well apparent. In the boys with the severity of pain estimated at 2 points based on the visual analog scale who received the standard course of the spa and health resort-based treatment, the pain rank index and the index of the number of the selected descriptors decreased significantly but nonetheless remained higher than in the patients treated by means of tSDCS as a component of the combined therapy (p=0.039). Simultaneously, the significantly lower level of situational (Q1=25.00; Me=36.50; Q3=45.00; p=0.036) and

Genetics Home Reference: idiopathic pulmonary fibrosis

MedlinePlus

... structures at the ends of chromosomes known as telomeres . It is not well understood how defects in ... Collard HR, Wolters PJ, Garcia CK. Effect of telomere length on survival in patients with idiopathic pulmonary ...

Idiopathic hypersomnia: a report of three adolescent-onset cases in a two-generation family.

PubMed

Janácková, Sona; Motte, Jacques; Bakchine, Serge; Sforza, Emilia

2011-04-01

Idiopathic hypersomnia is an uncommon sleep disorder characterized by prolonged sleep time and excessive daytime sleepiness without cataplexy. This study concerned a case of familial occurrence. The proband expressed an idiopathic hypersomnia with long sleep time at the age of 12 years. Clinical interview and ad libitum polysomnographic study did not reveal any symptoms of narcolepsy or other sleep disorders. Family history revealed that a 20-year-old sister had experienced symptoms of hypersomnia from the age of 16 and their mother had been diagnosed with idiopathic hypersomnia previously. The diagnosis of idiopathic hypersomnia with long sleep time was confirmed in the sister by clinical interview and ad libitum polysomnography. Human leukocyte antigen (HLA) did not reveal the DQB1-0602 phenotype in the proband and relatives. This report confirms the hypothesis of a genetic predisposition in idiopathic hypersomnia.

Screening for Adolescent Idiopathic Scoliosis: US Preventive Services Task Force Recommendation Statement.

PubMed

Grossman, David C; Curry, Susan J; Owens, Douglas K; Barry, Michael J; Davidson, Karina W; Doubeni, Chyke A; Epling, John W; Kemper, Alex R; Krist, Alex H; Kurth, Ann E; Landefeld, C Seth; Mangione, Carol M; Phipps, Maureen G; Silverstein, Michael; Simon, Melissa A; Tseng, Chien-Wen

2018-01-09

Adolescent idiopathic scoliosis, a lateral curvature of the spine of unknown cause with a Cobb angle of at least 10°, occurs in children and adolescents aged 10 to 18 years. Idiopathic scoliosis is the most common form and usually worsens during adolescence before skeletal maturity. Severe spinal curvature may be associated with adverse long-term health outcomes (eg, pulmonary disorders, disability, back pain, psychological effects, cosmetic issues, and reduced quality of life). Early identification and effective treatment of mild scoliosis could slow or stop curvature progression before skeletal maturity, thereby improving long-term outcomes in adulthood. To update the 2004 US Preventive Services Task Force (USPSTF) recommendation on screening for idiopathic scoliosis in asymptomatic adolescents. The USPSTF reviewed the evidence on the benefits and harms of screening for and treatment of adolescent idiopathic scoliosis. The USPSTF found no direct evidence on screening for adolescent idiopathic scoliosis and health outcomes and no evidence on the harms of screening. The USPSTF found inadequate evidence on treatment with exercise and surgery. It found adequate evidence that treatment with bracing may slow curvature progression in adolescents with mild or moderate curvature severity (Cobb angle <40° to 50°); however, evidence on the association between reduction in spinal curvature in adolescence and long-term health outcomes in adulthood is inadequate. The USPSTF found inadequate evidence on the harms of treatment. Therefore, the USPSTF concludes that the current evidence is insufficient and that the balance of benefits and harms of screening for adolescent idiopathic scoliosis cannot be determined. The USPSTF concludes that the current evidence is insufficient to assess the balance of benefits and harms of screening for adolescent idiopathic scoliosis in children and adolescents aged 10 to 18 years. (I statement).

Clinical Aspects of Idiopathic Inflammatory Bowel Disease: A Review for Pathologists.

PubMed

Lee, Hwajeong; Westerhoff, Maria; Shen, Bo; Liu, Xiuli

2016-05-01

-Idiopathic inflammatory bowel disease manifests with different clinical phenotypes showing varying behavior and risk for neoplasia. The clinical questions that are posed to pathologists differ depending on phase of the disease and the clinical circumstances. Understanding the clinical aspects of the dynamic disease process will enhance the role of pathology in optimizing the care of patients with inflammatory bowel disease. -To review clinical and surgical aspects of inflammatory bowel disease that are relevant to practicing pathologists. -The literature was reviewed. -Diagnosis and management of inflammatory bowel disease require an integrated evaluation of clinical, endoscopic, radiologic, and pathologic features. Therefore, close interaction between clinicians and pathologists is crucial. Having this team approach improves understanding of the pertinent clinical and surgical aspects of the disease and assists in the recognition of unusual presentation of variants, as well as mimics of idiopathic inflammatory bowel disease, by pathologists.

Electronic protocol of respiratory physical therapy in patients with idiopathic adolescent scoliosis.

PubMed

Cano, Danila Vieira Baldini; Malafaia, Osvaldo; Alves, Vera Lúcia dos Santos; Avanzi, Osmar; Pinto, José Simão de Paula

2011-01-01

To create a clinical database of respiratory function in patients with adolescent idiopathic scoliosis; computerize and store this clinical data through the use of a software; incorporate this electronic protocol to the SINPE© (Integrated Electronic Protocols System) and analyze a pilot project with interpretation of results. From the literature review a computerized data bank of clinical data of postural deviations was set up (master protocol). Upon completion of the master protocol a specific protocol of respiratory function in patients with adolescent idiopathic scoliosis was designed and a pilot project was conducted to collect and analyze data from ten patients. It was possible to create the master protocol of postural deviations and the specific protocol of respiratory function in patients with adolescent idiopathic scoliosis. The data collected in the pilot project was processed by the SINPE ANALYZER©, generating charts and statistics. The establishment of the clinical database of adolescent idiopathic scoliosis was possible. Computerization and storage of clinical data using the software were viable. The electronic protocol of adolescent idiopathic scoliosis could be incorporated into the SINPE© and its use in the pilot project was successful.

Periprosthetic Tissue Loss in Patients With Idiopathic Vitreous Inflammation After the Boston Keratoprosthesis.

PubMed

Grassi, Christina M; Cruzat, Andrea; Taniguchi, Elise V; Crnej, Alja; Colby, Kathryn A; Dohlman, Claes H; Chodosh, James

2015-11-01

Idiopathic vitritis is a poorly understood complication after Boston keratoprosthesis surgery with unclear etiology. We sought to determine whether an association exists between periprosthetic corneal tissue loss and the development of idiopathic vitritis in keratoprosthesis recipients. Thirteen Boston type I keratoprosthesis recipient eyes with a history of idiopathic vitritis and 34 type I keratoprosthesis recipient eyes with no history of idiopathic vitritis underwent anterior segment optical coherence tomography (AS-OCT) at a median time postoperatively of 2.4 years versus 1.9 years (range, 0.5-14.2 vs. 0.1-13.6 years), respectively. Areas of corneal graft tissue loss ("gaps") around the keratoprosthesis stem were identified and analyzed by 2 masked observers. The difference in the presence, number, and size of gaps was compared between cases and controls. A periprosthetic gap was identified more commonly in idiopathic vitritis cases than in controls on AS-OCT (11/13, 86% vs. 11/34, 33.3%, P < 0.001). The number of gaps between cases and controls was also significantly different (2.6 ± 1.6 vs. 0.5 ± 0.8, P < 0.001), but not the estimated gap area (0.056 ± 0.049 mm² vs. 0.039 ± 0.025 mm², P = 0.22). A significantly higher proportion of keratoprosthesis recipient eyes with idiopathic vitritis had corneal tissue loss around the keratoprosthesis stem than did controls. Tissue loss could serve as an entry point for debris or bacterial components, triggering idiopathic vitritis. Our study underscores the utility of AS-OCT imaging in the postoperative management of keratoprosthesis patients.

Debate: idiopathic short stature should be treated with growth hormone.

PubMed

Ambler, Geoffrey R; Fairchild, Jan; Wilkinson, Dominic J C

2013-03-01

In this paper we outline the case for and against the treatment of idiopathic short stature with growth hormone. Drs Ambler and Fairchild argue that many of those with 'idiopathic' short stature are not 'short, normal children' and will ultimately receive molecular diagnoses. They also argue that there is a subset of children who suffer negative psychosocial consequences of their stature for whom growth hormone therapy is effective. Growth hormone has a very good safety record and is likely to be as cost-effective in idiopathic short-stature as in some other conditions that are currently funded. Dr Wilkinson counters that short stature is not associated with physical or psychological illness, and that there is no evidence that growth hormone improves psychological or physical wellbeing. Moreover, growth hormone for idiopathic short stature represents a form of enhancement rather than treatment, and is not a fair use of resources. Socially mediated disadvantage should be treated by attention to prejudice and not by hormone treatment. © 2012 The Authors. Journal of Paediatrics and Child Health © 2012 Paediatrics and Child Health Division (Royal Australasian College of Physicians).

Locomotor skills and balance strategies in adolescents idiopathic scoliosis.

PubMed

Mallau, Sophie; Bollini, Gérard; Jouve, Jean-Luc; Assaiante, Christine

2007-01-01

Locomotor balance control assessment was performed to study the effect of idiopathic scoliosis on head-trunk coordination in 17 patients with adolescent idiopathic scoliosis (AIS) and 16 control subjects. The aim of this study was to explore the functional effects of structural spinal deformations like idiopathic scoliosis on the balance strategies used during locomotion. Up to now, the repercussion of the idiopathic scoliosis on head-trunk coordination and balance strategies during locomotion is relatively unknown. Seventeen patients with AIS (mean age 14 years 3 months, 10 degrees < Cobb angle > 30 degrees) and 16 control subjects (mean age 14 years 1 month) were tested during various locomotor tasks: walking on the ground, walking on a line, and walking on a beam. Balance control was examined in terms of rotation about the vertical axis (yaw) and on a frontal plane (roll). Kinematics of foot, pelvis, trunk, shoulder, and head rotations were measured with an automatic optical TV image processor in order to calculate angular dispersions and segmental stabilizations. Decreasing the walking speed is the main adaptive strategy used in response to balance problems in control subjects as well as patients with AIS. However, patients with AIS performed walking tasks more slowly than normal subjects (around 15%). Moreover, the pelvic stabilization is preserved, despite the structural changes affecting the spine. Lastly, the biomechanical defect resulting from idiopathic scoliosis mainly affects the yaw head stabilization during locomotion. Patients with AIS show substantial similarities with control subjects in adaptive strategies relative to locomotor velocity as well as balance control based on segmental stabilization. In contrast, the loss of the yaw head stabilization strategies, mainly based on the use of vestibular information, probably reflects the presence of vestibular deficits in the patients with AIS.

Surgical treatment analysis of idiopathic esophageal achalasia.

PubMed

Aquino, José Luis Braga de; Said, Marcelo Manzano; Pereira, Douglas Rizzanti; Amaral, Paula Casals do; Lima, Juliana Carolina Alves; Leandro-Merhi, Vânia Aparecida

2015-01-01

Idiopathic esophageal achalasia is an inflammatory disease of unknown origin, characterized by aperistalsis of the esophageal body and failure of the lower esophageal sphincter in response to swallowing, with consequent dysphagia. To demonstrate the results of surgical therapy in these patients, evaluating the occurred local and systemic complications. Were studied retrospectively 32 patients, 22 of whom presented non-advanced stage of the disease (Stage I/II) and 10 with advanced disease (Stage III/IV). All of them had the clinical conditions to be submitted to surgery. The diagnoses were done by clinical, endoscopic, cardiological, radiological and esophageal manometry analysis. Pre-surgical evaluation was done with a questionnaire based on the most predisposing factors in the development of the disease and the surgical indication was based on the stage of the disease. The patients with non-advanced stages were submitted to cardiomyotomy with fundoplication, wherein in the post-surgical early assessment, only one (4,4%) presented pulmonary infection, but had a good outcome. In patients with advanced disease, seven were submitted to esophageal mucosectomy preserving the muscular layer, wherein one patient (14,2%) presented dehiscence of gastric cervical esophagus anastomosis as well as pulmonary infection; all of these complications were resolved with proper specific treatment; the other three patients with advanced stage were submitted to transmediastinal esophagectomy; two of them presented hydropneumothorax with good evolution, and one of them also presented fistula of the cervical esophagogastric anastomosis, but with spontaneous healing after conservative treatment and nutritional support. The two patients with fistula of the cervical anastomosis progressed to stenosis, with good results after endoscopic dilations. In the medium and long term assessment done in 23 patients, all of them reported improvement in life quality, with return to swallowing. The

Fluid Distribution Pattern in Adult-Onset Congenital, Idiopathic, and Secondary Normal-Pressure Hydrocephalus: Implications for Clinical Care.

PubMed

Yamada, Shigeki; Ishikawa, Masatsune; Yamamoto, Kazuo

2017-01-01

In spite of growing evidence of idiopathic normal-pressure hydrocephalus (NPH), a viewpoint about clinical care for idiopathic NPH is still controversial. A continuous divergence of viewpoints might be due to confusing classifications of idiopathic and adult-onset congenital NPH. To elucidate the classification of NPH, we propose that adult-onset congenital NPH should be explicitly distinguished from idiopathic and secondary NPH. On the basis of conventional CT scan or MRI, idiopathic NPH was defined as narrow sulci at the high convexity in concurrent with enlargement of the ventricles, basal cistern and Sylvian fissure, whereas adult-onset congenital NPH was defined as huge ventricles without high-convexity tightness. We compared clinical characteristics and cerebrospinal fluid distribution among 85 patients diagnosed with idiopathic NPH, 17 patients with secondary NPH, and 7 patients with adult-onset congenital NPH. All patients underwent 3-T MRI examinations and tap-tests. The volumes of ventricles and subarachnoid spaces were measured using a 3D workstation based on T2-weighted 3D sequences. The mean intracranial volume for the patients with adult-onset congenital NPH was almost 100 mL larger than the volumes for patients with idiopathic and secondary NPH. Compared with the patients with idiopathic or secondary NPH, patients with adult-onset congenital NPH exhibited larger ventricles but normal sized subarachnoid spaces. The mean volume ratio of the high-convexity subarachnoid space was significantly less in idiopathic NPH than in adult-onset congenital NPH, whereas the mean volume ratio of the basal cistern and Sylvian fissure in idiopathic NPH was >2 times larger than that in adult-onset congenital NPH. The symptoms of gait disturbance, cognitive impairment, and urinary incontinence in patients with adult-onset congenital NPH tended to progress more slowly compared to their progress in patients with idiopathic NPH. Cerebrospinal fluid distributions and

Idiopathic pulmonary fibrosis: evolving concepts.

PubMed

Ryu, Jay H; Moua, Teng; Daniels, Craig E; Hartman, Thomas E; Yi, Eunhee S; Utz, James P; Limper, Andrew H

2014-08-01

Idiopathic pulmonary fibrosis (IPF) occurs predominantly in middle-aged and older adults and accounts for 20% to 30% of interstitial lung diseases. It is usually progressive, resulting in respiratory failure and death. Diagnostic criteria for IPF have evolved over the years, and IPF is currently defined as a disease characterized by the histopathologic pattern of usual interstitial pneumonia occurring in the absence of an identifiable cause of lung injury. Understanding of the pathogenesis of IPF has shifted away from chronic inflammation and toward dysregulated fibroproliferative repair in response to alveolar epithelial injury. Idiopathic pulmonary fibrosis is likely a heterogeneous disorder caused by various interactions between genetic components and environmental exposures. High-resolution computed tomography can be diagnostic in the presence of typical findings such as bilateral reticular opacities associated with traction bronchiectasis/bronchiolectasis in a predominantly basal and subpleural distribution, along with subpleural honeycombing. In other circumstances, a surgical lung biopsy may be needed. The clinical course of IPF can be unpredictable and may be punctuated by acute deteriorations (acute exacerbation). Although progress continues in unraveling the mechanisms of IPF, effective therapy has remained elusive. Thus, clinicians and patients need to reach informed decisions regarding management options including lung transplant. The findings in this review were based on a literature search of PubMed using the search terms idiopathic pulmonary fibrosis and usual interstitial pneumonia, limited to human studies in the English language published from January 1, 2000, through December 31, 2013, and supplemented by key references published before the year 2000. Copyright © 2014 Mayo Foundation for Medical Education and Research. Published by Elsevier Inc. All rights reserved.

[Physiopathology of idiopathic hypersomnia. Current studies and new orientations].

PubMed

Billiard, M; Rondouin, G; Espa, F; Dauvilliers, Y; Besset, A

2001-11-01

In 1976 Bedrich Roth coined the term "idiopathic hypersomnia" and described two forms of the disease, one monosymptomatic, manifested only by excessive daytime sleepiness, and one polysymptomatic, characterized by excessive daytime sleepiness, nocturnal sleep of abnormally long duration and signs of "sleep drunkenness" on awakening. In comparison with that of narcolepsy, the pathophysiology of idiopathic hypersomnia remains poorly known. There are two main reasons for that: the absence of clinical and polysomnographic criteria pathognomonic or at least characteristic of the condition, as the cataplexies and the sleep onset REM periods of narcolepsy, and also the absence of a natural animal model comparable with the canine model of narcolepsy. The first investigations have stressed the frequent familial pattern of idiopathic hypersomnia. Later on biochemical assays have been performed in the CSF with results in favour of a dysfunction of noradrenergic systems. In the light of the two process model of sleep regulation in which sleep propensity is determined by a homeostatic process S and a circadian process C and of the later three-process model of regulation in which sleepiness/alertness are simulated by the combined action of a homeostatic process, a circadian process and sleep inertia, we suggest that idiopathic hypersomnia is not a pathological entity in itself, but rather the consequence of chronic sleep deprivation in very long sleepers.

Efficacy of adalimumab in young children with juvenile idiopathic arthritis and chronic uveitis: a case series

PubMed Central

2014-01-01

Background Juvenile idiopathic arthritis is a relatively common chronic disease of childhood, and is associated with persistent morbidity and extra-articular complications, one of the most common being uveitis. The introduction of biologic therapies, particularly those blocking the inflammatory mediator tumor necrosis factor-α, provided a new treatment option for juvenile idiopathic arthritis patients who were refractory to standard therapy such as non-steroidal anti-inflammatory drugs, corticosteroids and/or methotrexate. Case presentations The first case was a 2-year-old girl with juvenile idiopathic arthritis and uveitis who failed to respond to treatment with anti-inflammatories, low-dose corticosteroids and methotrexate, and had growth retardation. Adalimumab 24 mg/m2 every 2 weeks and prednisone 0.5 mg/kg/day were added to methotrexate therapy; steroid tapering and withdrawal started after 1 month. After 2 months the patient showed good control of articular and ocular manifestations, and she remained in remission for 1 year, receiving adalimumab and methotrexate with no side effects, and showing significant improvement in growth. Case 2 was a 9-year-old boy with an 8-year history of juvenile idiopathic arthritis and uveitis that initially responded to infliximab, but relapse occurred after 2 years off therapy. After switching to adalimumab, and adjusting doses of both adalimumab and methotrexate based on body surface area, the patient showed good response and corticosteroids were tapered and withdrawn after 6 months; the patient remained in remission taking adalimumab and methotrexate. The final case was a 5-year-old girl with juvenile idiopathic arthritis for whom adalimumab was added to methotrexate therapy after three flares of uveitis. The patient had two subsequent episodes of uveitis that responded well to local therapy, but was then free of both juvenile idiopathic arthritis and uveitis symptoms, allowing methotrexate and then adalimumab to be

Interventional Radiologic Treatment for Idiopathic Portal Hypertension

DOE Office of Scientific and Technical Information (OSTI.GOV)

Hirota, Shozo; Ichikawa, Satoshi; Matsumoto, Shinichi

1999-07-15

Purpose: To evaluate the usefulness of interventional radiological treatment for idiopathic portal hypertension. Methods: Between 1995 and 1998, we performed an interventional radiological treatment in five patients with idiopathic portal hypertension, four of whom had refused surgery and one of whom had undergone surgery. Three patients with gastroesophageal varices (GEV) were treated by partial splenic embolization (PSE), one patient with esophageal varices (EV) and massive ascites by transjugular intrahepatic portosytemic shunt (TIPS) and PSE, and one patient with GEV by percutaneous transhepatic obliteration (PTO). Midterm results were analyzed in terms of the effect on esophageal and/or gastric varices. Results: Inmore » one woman with severe GEV who underwent three sessions of PSE, there was endoscopic confirmation that the GEV had disappeared. In one man his EV shrunk markedly after two sessions of PSE. In two patients slight reduction of the EV was obtained with one application of PSE combined with endoscopic variceal ligation therapy. PTO for GV in one patient resulted in good control of the varices. All patients have survived for 16-42 months since the first interventional treatment, and varices are well controlled. Conclusion: Interventional radiological treatment is effective for patients with idiopathic portal hypertension, whether or not they have undergone surgery.« less

Spondyloarthritis, diffuse idiopathic skeletal hyperostosis (DISH) and chondrocalcinosis.

PubMed

Armas, Jácome Brugues; Couto, Ana Rita; Bettencourt, Bruno Filipe

2009-01-01

The authors describe the main clinical and radiological findings of common enthesopathic disorders-spondylarthritis (SpA), chondrocalcinosis/calcium pyrophosphate dehydrate crystal deposition disease (CPPD CDD) and diffuse idiopathic skeletal hyperostosis (DISH), stressing similarities and differences which may help in the differential diagnosis. They emphasize the clinical presentation of the "pseudoankylosing spondylitis" forms of CPPD CDD. They also review the most relevant genes and molecular mechanisms associated with these conditions and with another enthesopathic disorder with high prevalence in the Japanese population-ossification of the posterior longitudinal ligament (OPLL).

Successful treatment with levothyroxine for idiopathic hypersomnia patients with subclinical hypothyroidism.

PubMed

Shinno, Hideto; Inami, Yasushi; Inagaki, Takuji; Kawamukai, Tetsuya; Utani, Etsuko; Nakamura, Yu; Horiguchi, Jun

2009-01-01

Our objective was to discuss the effect of levothyroxine on excessive daytime sleepiness (EDS) and a prolonged nocturnal sleep at patients with idiopathic hypersomnia who presented with subclinical hypothyroidism. We present two patients with hypersomnia who complained of EDS and a prolonged nocturnal sleep time. Sleep architecture and subjective daytime sleepiness were estimated by polysomnography (PSG) and Epworth Sleepiness Scale (ESS), respectively. Diagnoses were made using the International Classification of Sleep Disorders, 2nd Edition criteria for idiopathic hypersomnia with long sleep time. PSG demonstrated a short sleep latency, a prolonged total sleep time and normal proportions of all non-rapid eye movement (REM) and REM sleep stages. Nocturnal PSG excluded other causes of EDS. No medical, neurological and mental disorders were present. Their laboratory data indicated mildly elevated thyrotropin, despite free thyroxine (T4) and triiodothyronine (T3) estimates within their reference ranges, which is a characteristic of latent hypothyroidism. Levothyroxine (25 microg/day) was administrated orally. After treatment with levothyroxine for 8 weeks, the mean daily sleep times decreased. EDS was also improved, and a significant decrease in the ESS score was observed. Levothyroxine was effective for their hypersomnia and well tolerated. It should be noted that hypersomnia may be associated with subclinical hypothyroidism, although few abnormalities in physical and neurological examinations are present.

Neurodevelopment in preschool idiopathic toe-walkers.

PubMed

Martín-Casas, P; Ballestero-Pérez, R; Meneses-Monroy, A; Beneit-Montesinos, J V; Atín-Arratibel, M A; Portellano-Pérez, J A

2017-09-01

Idiopathic toe walking, a differential diagnosis for neurological and orthopaedic disorders, has been associated with neurodevelopmental alterations. Neurodevelopmental assessment at early ages using specific tests may improve management and follow-up of these patients. The aim of our study is to analyse the neurodevelopmental characteristics of preschool idiopathic toe-walkers (ITW) by comparing them to a control group. Our descriptive cross-sectional study compared possible risk factors, neurodevelopmental characteristics, and scores on the Child Neuropsychological Maturity Questionnaire (CUMANIN) between a group of 56 ITWs aged 3 to 6 and a control group including 40 children. The proportion of males was significantly higher in the ITW group (P=.008). The percentage of patients with a family history (P=.000) and biological risk factors during the perinatal period (P=.032) was also higher in this group. According to the parents' reports, motor coordination in ITWs was significantly poorer (59%; P=.009). ITWs scored significantly lower on CUMANIN subscales of psychomotricity (=0,001) and memory (P=.001), as well as in verbal development (P=.000), non-verbal development (P=.026), and overall development (P=.004). Foot preference was less marked in the ITW group (P=.047). The neurodevelopmental characteristics of our sample suggest that idiopathic toe walking is a marker of neurodevelopmental impairment. However, further studies are necessary to confirm these findings. Copyright © 2016 Sociedad Española de Neurología. Publicado por Elsevier España, S.L.U. All rights reserved.

Essential thrombocythemia in young individuals: frequency and risk factors for vascular events and evolution to myelofibrosis in 126 patients.

PubMed

Alvarez-Larrán, A; Cervantes, F; Bellosillo, B; Giralt, M; Juliá, A; Hernández-Boluda, J C; Bosch, A; Hernández-Nieto, L; Clapés, V; Burgaleta, C; Salvador, C; Arellano-Rodrigo, E; Colomer, D; Besses, C

2007-06-01

The frequency of vascular events and evolution to myelofibrosis (MF) in young individuals with essential thrombocythemia (ET) is not well known. The incidence and predisposing factors to such complications was studied in 126 subjects diagnosed with ET at a median age of 31 years (range: 5-40). Overall survival and probability of survival free of thrombosis, bleeding and MF were analyzed by the Kaplan-Meier method and the presence of the Janus Kinase 2 (JAK2) V617F mutation correlated with the appearance of such complications. The JAK2 mutation (present in 43% of patients) was associated with higher hemoglobin (Hb) (P<0.001) and lower platelets at diagnosis. With a median follow-up of 10 years (range: 4-25), 31 thrombotic events were registered (incidence rate: 2.2 thromboses/100 patients/year). When compared with the general population, young ET patients showed a significant increase in stroke (odds ratio 50, 95% CI: 21.5-115) and venous thromboses (odds ratio 5.3, 95% CI: 3.9-10.6). Thrombosis-free survival was 84% at 10 years, with tobacco use being associated with higher risk of thrombosis. Actuarial freedom from evolution to MF was 97% at 10 years. In conclusion, young ET patients have thrombotic events, especially stroke and venous thrombosis, more frequently than generally considered, whereas they rarely transform to MF.

Computational modeling of venous sinus stenosis in idiopathic intracranial hypertension

PubMed Central

Levitt, Michael R; McGah, Patrick M; Moon, Karam; Albuquerque, Felipe C; McDougall, Cameron G; Kalani, M Yashar S; Kim, Louis J; Aliseda, Alberto

2016-01-01

Background and Purpose Idiopathic intracranial hypertension has been associated with dural venous sinus stenosis in some patients, but the hemodynamic environment of the dural venous sinuses has not been quantitatively described. Here, we present the first such computational fluid dynamics model using patient-specific blood pressure measurements. Materials and Methods Six patients with idiopathic intracranial hypertension and at least one stenosis or atresia at the transverse-sigmoid sinus junction underwent MRV followed by cerebral venography and manometry throughout the dural venous sinuses. Patient-specific computational fluid dynamics models were created using MRV anatomy, with venous pressure measurements as boundary conditions. Blood flow and wall shear stress were calculated for each patient. Results Computational models of dural venous sinuses were successfully reconstructed in all six patients with patient-specific boundary conditions. Three patients demonstrated a pathologic pressure gradient (≥ 8 mm Hg) across four dural venous sinus stenoses. Small sample size precludes statistical comparisons, but average overall flow throughout the dural venous sinuses of patients with pathologic pressure gradients was higher than in those without (1041.00 ± 506.52 vs. 358.00 ± 190.95 mL/min). Wall shear stress was also higher across stenoses in patients with pathologic pressure gradients (37.66 ± 48.39 vs 7.02 ± 13.60 Pa). Conclusion The hemodynamic environment of the dural venous sinuses can be computationally modeled using patient-specific anatomy and physiological measurements in patients with idiopathic intracranial hypertension. There was substantially higher blood flow and wall shear stress in patients with pathological pressure gradients. PMID:27197986

Idiopathic noncirrhotic portal hypertension: current perspectives.

PubMed

Riggio, Oliviero; Gioia, Stefania; Pentassuglio, Ilaria; Nicoletti, Valeria; Valente, Michele; d'Amati, Giulia

2016-01-01

The term idiopathic noncirrhotic portal hypertension (INCPH) has been recently proposed to replace terms, such as hepatoportal sclerosis, idiopathic portal hypertension, incomplete septal cirrhosis, and nodular regenerative hyperplasia, used to describe patients with a hepatic presinusoidal cause of portal hypertension of unknown etiology, characterized by features of portal hypertension (esophageal varices, nonmalignant ascites, porto-venous collaterals), splenomegaly, patent portal, and hepatic veins and no clinical and histological signs of cirrhosis. Physicians should learn to look for this condition in a number of clinical settings, including cryptogenic cirrhosis, a disease known to be associated with INCPH, drug administration, and even chronic alterations in liver function tests. Once INCPH is clinically suspected, liver histology becomes mandatory for the correct diagnosis. However, pathologists should be familiar with the histological features of INCPH, especially in cases in which histology is not only requested to exclude liver cirrhosis.

Manual Therapy in the Treatment of Idiopathic Scoliosis. Analysis of Current Knowledge.

PubMed

Czaprowski, Dariusz

2016-10-28

Apart from the recommended specific physiotherapy, the treatment of idiopathic scoliosis (IS) also incorporates non-specific manual therapy (NMT). The aim of this paper is to assess the efficacy of NMT (manual therapy, chiropractic, osteopathy) used in the treatment of children and adolescents with IS. The study analysed systematic reviews (Analysis 1) and other recent scientific publications (Analysis 2). Analysis 1 encompassed papers on the use of NMT in patients with IS. Works concerning specific physiotherapy (SP) or bracing (B) and other types of scoliosis were excluded from the analysis. Inclusion criteria for Analysis 2 were: treatment with NMT; subjects aged 10-18 years with IS. The following types of papers were excluded: works analysing NMT combined with SP or B, reports concerning adult pa tients, analyses of single cases and publications included in Analysis 1. Analysis 1: six systematic reviews contained 6 papers on the efficacy of NMT in the treatment of IS. The results of these studies are contradictory, ranging from Cobb angle reduction to no treatment effects whatsoever. The papers analysed are characterised by poor methodological quality: small group sizes, incomplete descriptions of the study groups, no follow-up and no control groups. Analysis 2: in total, 217 papers were found. None of them met the criteria set for the analysis. 1. Few papers verifying the efficacy of manual therapy, chiropractic and osteopathy in the treatment of idiopathic scoliosis have been published to date. 2. The majority are experimental studies with poor methodology or observational case studies. 3. At present, the efficacy of non-specific manual therapy in the treatment of patients with idiopathic scoliosis cannot be reliably evaluated. 4. It is necessary to conduct further research based on appropriate methods (prospective, rando mi s ed, controlled studies) in order to reliably assess the usefulness of non-specific manual therapy in the treatment of idiopathic

Idiopathic Hypersomnia.

PubMed

Trotti, Lynn Marie

2017-09-01

Idiopathic hypersomnia (IH) is a chronic neurologic disorder of daytime sleepiness, accompanied by long sleep times, unrefreshing sleep, difficulty in awakening, cognitive dysfunction, and autonomic symptoms. The cause is unknown; a genetic predisposition is suggested. Autonomic, inflammatory, or immune dysfunction has been proposed. Diagnosis involves a clinical history and objective testing. There are no approved treatments for IH, but modafinil is typically considered first-line. A substantial fraction of patients with IH are refractory or intolerant to standard treatments, and different treatment strategies using novel therapeutics are necessary. Even with current treatment options, quality of life and safety may remain impaired. Copyright © 2017 Elsevier Inc. All rights reserved.

A Girl with Idiopathic Epilepsy Showing Forced Normalization after Levetiracetam Administration.

PubMed

Kawakami, Yasuhiko; Okazaki, Tetsuya; Takase, Masato; Fujino, Osamu; Itoh, Yasuhiko

2015-01-01

Forced normalization has been reported in association with almost all anti-epileptic drugs. We report on a 9-year-old girl with idiopathic epilepsy who showed forced normalization after administration of levetiracetam (LEV). She initially presented with generalized tonic-clonic seizures when she was 4 years old. Diffuse sharp and slow wave complexes (SWCs) were observed on electroencephalography (EEG). We prescribed sodium valproate (VPA) and benzodiazepines, but the seizures and EEG findings worsened gradually. Although subsequent administration of LEV stopped the seizures, the patient became subject to episodes of rage and violent behavior. Forced normalization was confirmed by the disappearance of SWCs on EEG. We reduced the dose of LEV and tried in various ways to resolve the situation, but finally we had to abandon LEV. To the best of our knowledge, this is the first report of a patient with idiopathic epilepsy but without disabilities in everyday life showing forced normalization associated with LEV administration.

Spinal Manipulative Therapy for Adolescent Idiopathic Scoliosis: A Systematic Review.

PubMed

Théroux, Jean; Stomski, Norman; Losco, Christine Dominique; Khadra, Christelle; Labelle, Hubert; Le May, Sylvie

The purpose of this study was to perform a systematic review of clinical trials of spinal manipulative therapy for adolescent idiopathic scoliosis. Search strategies were developed for PubMed, CINHAL, and CENTRAL databases. Studies were included through June 2016 if they were prospective trials that evaluated spinal manipulative therapy (eg, chiropractic, osteopathic, physical therapy) for adolescent idiopathic scoliosis. Data were extracted and assessed by 2 independent reviewers. Cochrane risk of bias tools were used to assess the quality of the included studies. Data were reported qualitatively because heterogeneity prevented statistical pooling. Four studies satisfied the inclusion criteria and were critically appraised. The findings of the included studies indicated that spinal manipulative therapy might be effective for preventing curve progression or reducing Cobb angle. However, the lack of controls and small sample sizes precluded robust estimation of the interventions' effect sizes. There is currently insufficient evidence to establish whether spinal manipulative therapy may be beneficial for adolescent idiopathic scoliosis. The results of the included studies suggest that spinal manipulative therapy may be a promising treatment, but these studies were all at substantial risk of bias. Further high-quality studies are warranted to conclusively determine if spinal manipulative therapy may be effective in the management of adolescent idiopathic scoliosis. Copyright © 2017. Published by Elsevier Inc.

Ongoing search for diagnostic biomarkers in idiopathic normal pressure hydrocephalus.

PubMed

Tarnaris, Andrew; Toma, Ahmed K; Kitchen, Neil D; Watkins, Laurence D

2009-12-01

Idiopathic normal pressure hydrocephalus is a syndrome, which typically has a clinical presentation of gait/balance disturbance, often accompanied by cognitive decline and/or urinary incontinence. Its diagnosis is based on relevant history and clinical examination, appropriate imaging findings and physiological testing. The clinical picture of idiopathic normal pressure hydrocephalus may occasionally be difficult to distinguish from that of Alzheimer's dementia, subcortical ischemic vascular dementia and Parkinson's disease. The aim of this article is to systematically review the literature from the last 29 years in order to identify cerebrospinal fluid (CSF) or imaging biomarkers that may aid in the diagnosis of the syndrome. The authors concluded that no CSF or imaging biomarker is currently fulfilling the criteria required to aid in the diagnosis of the condition. However, a few studies have revealed promising CSF and imaging markers that need to be verified by independent groups. The reasons that the progress in this field has been slow so far is also commented on, as well as steps required to apply the current evidence in the design of future studies within the field.

The Immune Response and the Pathogenesis of Idiopathic Inflammatory Myositis: a Critical Review.

PubMed

Ceribelli, Angela; De Santis, Maria; Isailovic, Natasa; Gershwin, M Eric; Selmi, Carlo

2017-02-01

The pathogenesis of idiopathic inflammatory myositis (IIMs, including polymyositis and dermatomyositis) remains largely enigmatic, despite advances in the study of the role played by innate immunity, adaptive immunity, genetic predisposition, and environmental factors in an orchestrated response. Several factors are involved in the inflammatory state that characterizes the different forms of IIMs which share features and mechanisms but are clearly different with respect to the involved sites and characteristics of the inflammation. Cellular and non-cellular mechanisms of both the immune and non-immune systems have been identified as key regulators of inflammation in polymyositis/dermatomyositis, particularly at different stages of disease, leading to the fibrotic state that characterizes the end stage. Among these, a special role is played by an interferon signature and complement cascade with different mechanisms in polymyositis and dermatomyositis; these differences can be identified also histologically in muscle biopsies. Numerous cellular components of the adaptive and innate immune response are present in the site of tissue inflammation, and the complexity of idiopathic inflammatory myositis is further supported by the involvement of non-immune mechanisms such as hypoxia and autophagy. The aim of this comprehensive review is to describe the major pathogenic mechanisms involved in the onset of idiopathic inflammatory myositis and to report on the major working hypothesis with therapeutic implications.

[Erythema nodosum during the course of idiopathic granulomatous mastitis].

PubMed

Fahmy, J; Halabi-Tawil, M; Bagot, M; Tournant, B; Petit, A

2015-01-01

Idiopathic granulomatous mastitis (IGM) is a benign, aseptic inflammatory disease of unknown origin, which must be distinguished from tumoral and infectious processes that affect the breast, including tuberculosis. IGM is a rare cause of erythema nodosum, but it is useful for dermatologists to be aware of this association. A 32-year-old nulliparous woman presented with erythema nodosum, arthralgia and fever. On examination, she had a firm and painful mass of 5cm in the right breast with retraction and axillary adenopathy. The breast lump developed gradually over the preceding 4 months. Although two biopsies showed no evidence of atypical cells, inflammatory areas and a granulomatous process were seen. Culture of breast tissue for mycobacteria was negative. A diagnostic of idiopathic granulomatous mastitis was made. Systemic corticosteroids led to a reduction in size of the mass, but relapse occurred in the contralateral breast on dose-reduction of the corticosteroids. IGM is a rare disease of unknown aetiology. Diagnosis is based on characteristic histological features and exclusion of other granulomatous diseases. Extra-mammary signs are rare and include erythema nodosum, arthralgia and episcleritis. Management is poorly codified. Copyright © 2014 Elsevier Masson SAS. All rights reserved.

Genetic (idiopathic) epilepsy with photosensitive seizures includes features of both focal and generalized seizures.

PubMed

Xue, Jiao; Gong, Pan; Yang, Haipo; Liu, Xiaoyan; Jiang, Yuwu; Zhang, Yuehua; Yang, Zhixian

2018-04-19

Clinically, some patients having genetic (idiopathic) epilepsy with photosensitive seizures were difficult to be diagnosed. We aimed to discuss whether the genetic (idiopathic) epilepsy with photosensitive seizures is a focal entity, a generalized entity or a continuum. Twenty-two patients with idiopathic epilepsies and photoconvulsive response (PCR) were retrospectively recruited. In the medical records, the seizure types included "generalized tonic-clonic seizures (GTCS)" in 15, "partial secondarily GTCS (PGTCS)" in 3, partial seizures (PS) in 3, myoclonic seizures in 2, eyelid myoclonus in one, and only febrile seizures in one. Seizure types of PCR included GTCS (1/22), PGTCS (6/22), PS (9/22), electrical seizures (ES) (3/22) and GTCS/PGTCS (3/22). Combined the medical history with PCR results, they were diagnosed as: idiopathic (photosensitive) occipital lobe epilepsy (I(P)OE) in 12, genetic (idiopathic) generalized epilepsy (GGE) in one, GGE/I(P)OE in 5, pure photosensitive seizure in one, and epilepsy with undetermined generalized or focal seizure in 3. So, the dichotomy between generalized and focal seizures might have been out of date regarding to pathophysiological advances in epileptology. To some extent, it would be better to recognize the idiopathic epilepsy with photosensitive seizures as a continuum between focal and generalized seizures.

Enlarged Dural Sac in Idiopathic Bronchiectasis Implicates Heritable Connective Tissue Gene Variants

PubMed Central

Birchard, Katherine R.; Lowe, Jared R.; Patrone, Michael V.

2016-01-01

Rationale: Patients with idiopathic bronchiectasis are predominantly female and have an asthenic body morphotype and frequent nontuberculous mycobacterial respiratory infections. They also demonstrate phenotypic features (scoliosis, pectus deformity, mitral valve prolapse) that are commonly seen in individuals with heritable connective tissue disorders. Objectives: To determine whether lumbar dural sac size is increased in patients with idiopathic bronchiectasis as compared with control subjects, and to assess whether dural sac size is correlated with phenotypic characteristics seen in individuals with heritable connective tissue disorders. Methods: Two readers blinded to diagnosis measured anterior–posterior and transverse dural sac diameter using L1–L5 magnetic resonance images of 71 patients with idiopathic bronchiectasis, 72 control subjects without lung disease, 29 patients with cystic fibrosis, and 24 patients with Marfan syndrome. We compared groups by pairwise analysis of means, using Tukey’s method to adjust for multiple comparisons. Dural sac diameter association with phenotypic and clinical features was also tested. Measurements and Main Results: The L1–L5 (average) anterior–posterior dural sac diameter of the idiopathic bronchiectasis group was larger than those of the control group (P < 0.001) and the cystic fibrosis group (P = 0.002). There was a strong correlation between increased dural sac size and the presence of pulmonary nontuberculous mycobacterial infection (P = 0.007) and long fingers (P = 0.003). A trend toward larger dural sac diameter was seen in those with scoliosis (P = 0.130) and those with a family history of idiopathic bronchiectasis (P = 0.149). Conclusions: Individuals with idiopathic bronchiectasis have an enlarged dural sac diameter, which is associated with pulmonary nontuberculous mycobacterial infection, long fingers, and family history of idiopathic bronchiectasis. These findings support our

A case of idiopathic hypertrophic pachymeningitis presenting with chronic headache and multiple cranial nerve palsies: A case report.

PubMed

Huang, Yuanyuan; Chen, Jun; Gui, Li

2017-07-01

Idiopathic hypertrophic pachymeningitis (IHP) is a rare condition, characterized by a chronic fibrosing inflammatory process usually involving either the intracranial or spinal dura mater, but rarely both. Here, we report a rare case of IHP affecting both the intracranial and spinal dura mater. We also discussed the diagnosis, management, and outcome of IHP. We reviewed the case of a 60-year-old woman presenting with chronic headache, multiple cranial nerve palsies and gait disturbance. Magnetic resonance imaging (MRI) of her head revealed thickened and contrast-enhanced dura in the craniocervical region as well as obstructive hydrocephalus and cerebellar tonsillar herniation. The patient had a suboccipital craniectomy and posterior decompression through C1 plus a total laminectomy. The dura was partially resected to the extent of the bony decompression, and a duroplasty was performed. Microscopic examination of the surgically resected sample showed chronic inflammatory changes, lymphoplasmacytic cell infiltration, fibrous tissue hyperplasia, and hyaline degeneration. Blood tests to evaluate the secondary causes of hypertrophic pachymeningitis (HP) were unremarkable. Steroid was used to treat suspected IHP. Postoperatively, the patient showed gradual improvement in her headache, glossolalia, and bucking. Prior to discharge, a follow-up MRI showed improvement of the dura mater thickening. IHP is a chronic inflammatory disorder of the dura mater that usually causes neurological deficits. Clinical manifestations of IHP, MRI findings, and laboratory abnormalities are the essential components for making an accurate diagnosis. When the radiological or laboratory evaluation is uncertain, but neurological deficits are present, a prompt surgical approach should be considered. Postoperative steroid therapy and close observation for recurrence are necessary to ensure a good long-term outcome.

French consensus. Idiopathic hypersomnia: Investigations and follow-up.

PubMed

Leu-Semenescu, S; Quera-Salva, M-A; Dauvilliers, Y

Idiopathic hypersomnia is a rare, central hypersomnia, recently identified and to date of unknown physiopathology. It is characterised by a more or less permanent, excessive daytime sleepiness, associated with long and unrefreshing naps. Night-time sleep is of good quality, excessive in quantity, associated with sleep inertia in the subtype previously described as "with long sleep time". Diagnosis of idiopathic hypersomnia is complex due to the absence of a quantifiable biomarker, the heterogeneous symptoms, which overlap with the clinical picture of type 2 narcolepsy, and its variable evolution over time. Detailed evaluation enables other frequent causes of somnolence, such as depression or sleep deprivation, to be eliminated. Polysomnography and multiple sleep latency tests (MSLT) are essential to rule out other sleep pathologies and to objectify excessive daytime sleepiness. Sometimes the MSLT do not show excessive sleepiness, hence a continued sleep recording of at least 24hours is necessary to show prolonged sleep (>11h/24h). In this article, we propose recommendations for the work-up to be carried out during diagnosis and follow-up for patients suffering from idiopathic hypersomnia. Copyright © 2016 Elsevier Masson SAS. All rights reserved.

Do adolescents with idiopathic scoliosis have body schema disorders? A cross-sectional study.

PubMed

Picelli, Alessandro; Negrini, Stefano; Zenorini, Andrea; Iosa, Marco; Paolucci, Stefano; Smania, Nicola

2016-01-01

To date etiology of adolescent idiopathic scoliosis appears complex and still remains unclear. A distorted body schema has been proposed to be a part of a sequence of pathological events in the development of adolescent idiopathic scoliosis. To investigate the awareness of trunk misalignment in adolescents with idiopathic scoliosis. Information about 44 adolescents with idiopathic scoliosis was collected as follows: age; sex; handedness; family history of scoliosis; back pain; sport practice; shoulder and waist line symmetry; leg length; dorsal kyphosis; back hump; rehabilitation; scoliotic curve; Risser sign. We evaluated awareness of trunk misalignment with a graphic table displaying pictures of progressively increasing scoliotic curves. Patients were asked to indicate which picture corresponded to their perceived own spinal alignment. Patients with thoracolumbar scoliosis overestimated their actual thoracic spine curve. Patients with thoracic-thoracolumbar scoliosis underestimated their actual thoracolumbar spine curve and overestimated their actual lumbar spine curve. Scoliotic curve > 15°, double curve, younger age, back pain, family history of scoliosis and lower Risser score related with a misperception of trunk alignment. Our results support the hypothesis that adolescents with idiopathic scoliosis have an altered corporeal awareness of their trunk alignment.

Idiopathic noncirrhotic portal hypertension: current perspectives

PubMed Central

Riggio, Oliviero; Gioia, Stefania; Pentassuglio, Ilaria; Nicoletti, Valeria; Valente, Michele; d’Amati, Giulia

2016-01-01

The term idiopathic noncirrhotic portal hypertension (INCPH) has been recently proposed to replace terms, such as hepatoportal sclerosis, idiopathic portal hypertension, incomplete septal cirrhosis, and nodular regenerative hyperplasia, used to describe patients with a hepatic presinusoidal cause of portal hypertension of unknown etiology, characterized by features of portal hypertension (esophageal varices, nonmalignant ascites, porto-venous collaterals), splenomegaly, patent portal, and hepatic veins and no clinical and histological signs of cirrhosis. Physicians should learn to look for this condition in a number of clinical settings, including cryptogenic cirrhosis, a disease known to be associated with INCPH, drug administration, and even chronic alterations in liver function tests. Once INCPH is clinically suspected, liver histology becomes mandatory for the correct diagnosis. However, pathologists should be familiar with the histological features of INCPH, especially in cases in which histology is not only requested to exclude liver cirrhosis. PMID:27555800

Idiopathic subvalvular aortic aneurysm masquerading as acute coronary syndrome.

PubMed

Natarajan, Balaji; Ramanathan, Sundar; Subramaniam, Natarajan; Janardhanan, Rajesh

2016-09-02

Subvalvular aneurysms are the least common type of left ventricular (LV) aneurysms and can be fatal. Subaortic LV aneurysms are much rarer than submitral LV aneurysms and mostly reported in infancy. They can be congenital or acquired secondary to infections, cardiac surgery or trauma. Here, we report a unique presentation of a large, idiopathic subaortic aneurysm in an adult masquerading as an acute coronary syndrome. Diagnosis was made with the help of a CT aortography. Aneurysm was surgically resected with good results. This case highlights the clinical presentation and management of subaortic aneurysms, an important differential for congenital aortic malformations. 2016 BMJ Publishing Group Ltd.

Corticosteroid treatment and timing of surgery in idiopathic granulomatous mastitis confusing with breast carcinoma.

PubMed

Erozgen, Fazilet; Ersoy, Yeliz E; Akaydin, Murat; Memmi, Naim; Celik, Aysun Simsek; Celebi, Fatih; Guzey, Deniz; Kaplan, Rafet

2010-09-01

Idiopathic granulomatous mastitis (IGM) is an uncommon chronic inflammatory lesion of the breast with an uncertain optimal treatment regimen, the physical examination, and radiologic features of which may be confused with breast carcinoma. In this study, we aimed to describe the clinicopathologic characteristics of 33 patients who admitted to our breast policlinic and took the diagnosis of granulomatous (idiopathic and non-idiopathic) mastitis, and report the place of corticosteroids and the timing of surgery in the treatment of patients with IGM. The clinical features of 33 patients who presented to our breast policlinic with the complaint of breast mass and reached the final diagnosis of GM between March 2005 and October 2009 were reported. The most common symptoms were mass (n: 27) and pain (n: 11). Ultrasonography (USG) and biopsy were performed in all of the patients. Mammography (MMG) was performed in 9, and magnetic resonance imaging (MRI) in 10 patients. The diagnosis of idiopathic lobular granulomatous mastitis (ILGM) was made in 25 patients and tuberculous mastitis (non-idiopathic GM) in the remaining 8 patients. Twenty-four patients received steroid treatment except one who was pregnant. After giving birth, she also received steroids. One of the patients who developed recurrence after 11 months repeated the steroid therapy. Eight patients with tuberculous mastitis were placed on a regimen of antituberculosis therapy for 6 months. In the diagnosis of IGM, physical examination, USG, MMG, and even MRI alone may sometimes not be enough. They should be discussed altogether and the treatment should begin after definitive histopathologic result. Fine needle aspiration biopsy for cytology will result in a high level of diagnostic accuracy, however, core biopsy will reinforce the exact result. Corticosteroid therapy has been shown to be efficacious for IGM, but in the existence of complications such as abscess formation, fistulae, and persistent wound infection

Idiopath=ic Granulomatous Lobular Mastitis Masquerading as a Breast Tumor: A Case Report.

PubMed

Raman R, Thulasi; Manimaran, D

2016-05-01

Idiopathic granulomatous lobular mastitis (IGLM) is an inflammatory disease of the breast with an obscure etiology. It occurs mainly in women of reproductive age, and the lesion mimics carcinoma of the breast both clinically and radiologically. We present the case of a 29-year-old female who visited our hospital in Kancheepuram, Tamil Nadu, with a 4 × 3 cm lump in the upper outer quadrant of her left breast. The clinical and radiological findings were indicative of a malignant lesion; however, fine-needle aspiration cytology (FNAC) revealed features of granulomatous mastitis, and the subsequent histology of the excised lump confirmed the diagnosis of IGLM. IGLM should be considered as one of the differential diagnoses when granulomas are encountered in breast FNAC and biopsy. A definitive diagnosis of IGLM can be made by identifying its characteristic histomorphology and ruling out other causes for granulomatous inflammation. An exact diagnosis is essential since the treatment for different granulomatous conditions of the breast varies.

Selective Arterial Embolization of Idiopathic Priapism

DOE Office of Scientific and Technical Information (OSTI.GOV)

Cohen, Gary S.; Braunstein, Larry; Ball, David S.

1996-11-15

We report a case of idiopathic priapism that was only identified as high-flow or arterial priapism after drainage of the corpora cavernosa. Following failure of conservative and surgical treatment attempts, two consecutive embolizations of a unilateral penile artery were performed with gelgoam particles.

Mutant calreticulin knockin mice develop thrombocytosis and myelofibrosis without a stem cell self-renewal advantage.

PubMed

Li, Juan; Prins, Daniel; Park, Hyun Jung; Grinfeld, Jacob; Gonzalez-Arias, Carlos; Loughran, Stephen; Dovey, Oliver M; Klampfl, Thorsten; Bennett, Cavan; Hamilton, Tina L; Pask, Dean C; Sneade, Rachel; Williams, Matthew; Aungier, Juliet; Ghevaert, Cedric; Vassiliou, George S; Kent, David G; Green, Anthony R

2018-02-08

Somatic mutations in the endoplasmic reticulum chaperone calreticulin (CALR) are detected in approximately 40% of patients with essential thrombocythemia (ET) and primary myelofibrosis (PMF). Multiple different mutations have been reported, but all result in a +1-bp frameshift and generate a novel protein C terminus. In this study, we generated a conditional mouse knockin model of the most common CALR mutation, a 52-bp deletion. The mutant novel human C-terminal sequence is integrated into the otherwise intact mouse CALR gene and results in mutant CALR expression under the control of the endogenous mouse locus. CALR del/+ mice develop a transplantable ET-like disease with marked thrombocytosis, which is associated with increased and morphologically abnormal megakaryocytes and increased numbers of phenotypically defined hematopoietic stem cells (HSCs). Homozygous CALR del/del mice developed extreme thrombocytosis accompanied by features of MF, including leukocytosis, reduced hematocrit, splenomegaly, and increased bone marrow reticulin. CALR del/+ HSCs were more proliferative in vitro, but neither CALR del/+ nor CALR del/del displayed a competitive transplantation advantage in primary or secondary recipient mice. These results demonstrate the consequences of heterozygous and homozygous CALR mutations and provide a powerful model for dissecting the pathogenesis of CALR-mutant ET and PMF. © 2018 by The American Society of Hematology.

Protein kinase Cɛ inhibition restores megakaryocytic differentiation of hematopoietic progenitors from primary myelofibrosis patients.

PubMed

Masselli, E; Carubbi, C; Gobbi, G; Mirandola, P; Galli, D; Martini, S; Bonomini, S; Crugnola, M; Craviotto, L; Aversa, F; Vitale, M

2015-11-01

Among the three classic Philadelphia chromosome-negative myeloproliferative neoplasms, primary myelofibrosis (PMF) is the most severe in terms of disease biology, survival and quality of life. Abnormalities in the process of differentiation of PMF megakaryocytes (MKs) are a hallmark of the disease. Nevertheless, the molecular events that lead to aberrant megakaryocytopoiesis have yet to be clarified. Protein kinase Cɛ (PKCɛ) is a novel serine/threonine kinase that is overexpressed in a variety of cancers, promoting aggressive phenotype, invasiveness and drug resistance. Our previous findings on the role of PKCɛ in normal (erythroid and megakaryocytic commitment) and malignant (acute myeloid leukemia) hematopoiesis prompted us to investigate whether it could be involved in the pathogenesis of PMF MK-impaired differentiation. We demonstrate that PMF megakaryocytic cultures express higher levels of PKCɛ than healthy donors, which correlate with higher disease burden but not with JAK2V617F mutation. Inhibition of PKCɛ function (by a negative regulator of PKCɛ translocation) or translation (by target small hairpin RNA) leads to reduction in PMF cell growth, restoration of PMF MK differentiation and inhibition of PKCɛ-related anti-apoptotic signaling (Bcl-xL). Our data suggest that targeting PKCɛ directly affects the PMF neoplastic clone and represent a proof-of-concept for PKCɛ inhibition as a novel therapeutic strategy in PMF.

Idiopathic granulomatous mastitis: a medical or surgical disease of the breast?

PubMed

Skandarajah, Anita; Marley, Leah

2015-12-01

Idiopathic granulomatous mastitis (IGM) is a rare benign breast disease, which can be protracted, disfiguring and may be linked to an underlying autoimmune disorder. The clinical presentation may mimic bacterial mastitis or carcinoma. To review the mode of presentation, diagnosis, management, resolution and incidence of IGM in three tertiary breast centres and propose guidelines for management. The breast and anatomical databases of three centres were reviewed from January 2000 to December 2013 to identify patients with histological diagnosis of IGM. Clinical and demographic characteristics were retrieved and treatment modalities and time to resolution were recorded. Seventeen patients were identified with a median age of 40. The majority of patients were premenopausal, multiparous and presented with a mass. All patients had initial treatment as infectious mastitis. The diagnosis was made by core biopsy in 71%. Eleven patients required immunosuppressive treatment with steroids and four of these patients required a steroid-sparing agent because of steroidal side effects, recurrence or persistence of symptoms. The median time to resolution was 3 months (0-24 months). One patient had subsequent systemic Wegener's granulomatosis diagnosed. Idiopathic granulomatosis mastitis requires histological confirmation, close monitoring, exclusion of underlying systemic autoimmune conditions and judicious use of steroids and steroid-sparing agents such as methotrexate. It has a protracted course with some patients relapsing quickly upon cessation of steroids. © 2014 Royal Australasian College of Surgeons.

Glymphatic MRI in idiopathic normal pressure hydrocephalus

PubMed Central

Ringstad, Geir; Vatnehol, Svein Are Sirirud; Eide, Per Kristian

2017-01-01

Abstract The glymphatic system has in previous studies been shown as fundamental to clearance of waste metabolites from the brain interstitial space, and is proposed to be instrumental in normal ageing and brain pathology such as Alzheimer’s disease and brain trauma. Assessment of glymphatic function using magnetic resonance imaging with intrathecal contrast agent as a cerebrospinal fluid tracer has so far been limited to rodents. We aimed to image cerebrospinal fluid flow characteristics and glymphatic function in humans, and applied the methodology in a prospective study of 15 idiopathic normal pressure hydrocephalus patients (mean age 71.3 ± 8.1 years, three female and 12 male) and eight reference subjects (mean age 41.1 + 13.0 years, six female and two male) with suspected cerebrospinal fluid leakage (seven) and intracranial cyst (one). The imaging protocol included T1-weighted magnetic resonance imaging with equal sequence parameters before and at multiple time points through 24 h after intrathecal injection of the contrast agent gadobutrol at the lumbar level. All study subjects were kept in the supine position between examinations during the first day. Gadobutrol enhancement was measured at all imaging time points from regions of interest placed at predefined locations in brain parenchyma, the subarachnoid and intraventricular space, and inside the sagittal sinus. Parameters demonstrating gadobutrol enhancement and clearance in different locations were compared between idiopathic normal pressure hydrocephalus and reference subjects. A characteristic flow pattern in idiopathic normal hydrocephalus was ventricular reflux of gadobutrol from the subarachnoid space followed by transependymal gadobutrol migration. At the brain surfaces, gadobutrol propagated antegradely along large leptomeningeal arteries in all study subjects, and preceded glymphatic enhancement in adjacent brain tissue, indicating a pivotal role of intracranial pulsations for glymphatic

Glymphatic MRI in idiopathic normal pressure hydrocephalus.

PubMed

Ringstad, Geir; Vatnehol, Svein Are Sirirud; Eide, Per Kristian

2017-10-01

The glymphatic system has in previous studies been shown as fundamental to clearance of waste metabolites from the brain interstitial space, and is proposed to be instrumental in normal ageing and brain pathology such as Alzheimer's disease and brain trauma. Assessment of glymphatic function using magnetic resonance imaging with intrathecal contrast agent as a cerebrospinal fluid tracer has so far been limited to rodents. We aimed to image cerebrospinal fluid flow characteristics and glymphatic function in humans, and applied the methodology in a prospective study of 15 idiopathic normal pressure hydrocephalus patients (mean age 71.3 ± 8.1 years, three female and 12 male) and eight reference subjects (mean age 41.1 + 13.0 years, six female and two male) with suspected cerebrospinal fluid leakage (seven) and intracranial cyst (one). The imaging protocol included T1-weighted magnetic resonance imaging with equal sequence parameters before and at multiple time points through 24 h after intrathecal injection of the contrast agent gadobutrol at the lumbar level. All study subjects were kept in the supine position between examinations during the first day. Gadobutrol enhancement was measured at all imaging time points from regions of interest placed at predefined locations in brain parenchyma, the subarachnoid and intraventricular space, and inside the sagittal sinus. Parameters demonstrating gadobutrol enhancement and clearance in different locations were compared between idiopathic normal pressure hydrocephalus and reference subjects. A characteristic flow pattern in idiopathic normal hydrocephalus was ventricular reflux of gadobutrol from the subarachnoid space followed by transependymal gadobutrol migration. At the brain surfaces, gadobutrol propagated antegradely along large leptomeningeal arteries in all study subjects, and preceded glymphatic enhancement in adjacent brain tissue, indicating a pivotal role of intracranial pulsations for glymphatic function. In

The coeruleus/subcoeruleus complex in idiopathic rapid eye movement sleep behaviour disorder.

PubMed

Ehrminger, Mickael; Latimier, Alice; Pyatigorskaya, Nadya; Garcia-Lorenzo, Daniel; Leu-Semenescu, Smaranda; Vidailhet, Marie; Lehericy, Stéphane; Arnulf, Isabelle

2016-04-01

Idiopathic rapid eye movement sleep behaviour disorder is characterized by nocturnal violence, increased muscle tone during rapid eye movement sleep and the lack of any other neurological disease. However, idiopathic rapid eye movement sleep behaviour disorder can precede parkinsonism and dementia by several years. Using 3 T magnetic resonance imaging and neuromelanin-sensitive sequences, we previously found that the signal intensity was reduced in the locus coeruleus/subcoeruleus area of patients with Parkinson's disease and rapid eye movement sleep behaviour disorder. Here, we studied the integrity of the locus coeruleus/subcoeruleus complex with neuromelanin-sensitive imaging in 21 patients with idiopathic rapid eye movement sleep behaviour disorder and compared the results with those from 21 age- and gender-matched healthy volunteers. All subjects underwent a clinical examination, motor, cognitive, autonomous, psychological, olfactory and colour vision tests, and rapid eye movement sleep characterization using video-polysomnography and 3 T magnetic resonance imaging. The patients more frequently had preclinical markers of alpha-synucleinopathies, including constipation, olfactory deficits, orthostatic hypotension, and subtle motor impairment. Using neuromelanin-sensitive imaging, reduced signal intensity was identified in the locus coeruleus/subcoeruleus complex of the patients with idiopathic rapid eye movement sleep behaviour. The mean sensitivity of the visual analyses of the signal performed by neuroradiologists who were blind to the clinical diagnoses was 82.5%, and the specificity was 81% for the identification of idiopathic rapid eye movement sleep behaviour. The results confirm that this complex is affected in idiopathic rapid eye movement sleep behaviour (to the same degree as it is affected in Parkinson's disease). Neuromelanin-sensitive imaging provides an early marker of non-dopaminergic alpha-synucleinopathy that can be detected on an individual

The contribution of the SPINK1 c.194+2T>C mutation to the clinical course of idiopathic chronic pancreatitis in Chinese patients.

PubMed

Sun, Chang; Liao, Zhuan; Jiang, Lili; Yang, Fu; Xue, Geng; Zhou, Qi; Chen, Ruiwen; Sun, Shuhan; Li, Zhaoshen

2013-01-01

Recent data suggest that the serine protease inhibitor Kazal type 1 (SPINK1) gene mutation is associated with idiopathic chronic pancreatitis. However, few studies have focused on the serine protease inhibitor Kazal type 1 c.194+2T>C mutation. Therefore, our goal was to study the prevalence and impact of serine protease inhibitor Kazal type 1 mutations on the clinical profile of idiopathic chronic pancreatitis patients in China. A retrospective-cohort study of 118 Chinese patients with idiopathic chronic pancreatitis was performed, and genetic tests were carried out to detect SPINK1 mutations. Subjects without pancreatitis were used as controls. In total, 118 idiopathic chronic pancreatitis patients and 100 control subjects were evaluated. The serine protease inhibitor Kazal type 1 c.194+2T>C variant was present in 44.9% of patients with idiopathic chronic pancreatitis. The frequency of diabetes in idiopathic chronic pancreatitis patients with the serine protease inhibitor Kazal type 1 c.194+2T>C mutation (39.6%) was higher than that of patients without the mutation (9.2%). The time to occurrence of diabetes mellitus after idiopathic chronic pancreatitis symptom onset is significantly influenced by the c.194+2T>C mutation (p<0.001). In addition, the mean age of diabetes onset in patients with the serine protease inhibitor Kazal type 1 c.194+2T>C mutation (38.33 ± 9.50) was significantly younger than that of patients without this mutation (49.67 ± 6.74). The presence of the serine protease inhibitor Kazal type 1 c.194+2T>C mutation seems to be associated with idiopathic chronic pancreatitis and could predispose individuals to pancreatic diabetes onset at an earlier age. Copyright © 2012 Editrice Gastroenterologica Italiana S.r.l. Published by Elsevier Ltd. All rights reserved.

Treatment of idiopathic FSGS with adrenocorticotropic hormone gel.

PubMed

Hogan, Jonathan; Bomback, Andrew S; Mehta, Kshama; Canetta, Pietro A; Rao, Maya K; Appel, Gerald B; Radhakrishnan, Jai; Lafayette, Richard A

2013-12-01

Adrenocorticotropic hormone (ACTH) has shown efficacy as primary and secondary therapy for nephrotic syndrome due to membranous nephropathy. The data on using ACTH to treat idiopathic FSGS are limited. This report describes our experience using ACTH for nephrotic syndrome due to idiopathic FSGS in the United States. Twenty-four patients with nephrotic syndrome from idiopathic FSGS were treated with ACTH gel at two academic medical centers between 2009 and 2012, either as part of investigator-initiated pilot studies (n=16) or by prescription for treatment-resistant FSGS (n=8). The primary outcome was remission of proteinuria. The median dose of ACTH was 80 units injected subcutaneously twice weekly. Treatment durations were not uniform. Twenty-two patients had received immunosuppression (mean, 2.2 medications) before ACTH therapy. Six patients had steroid-dependent and 15 had steroid-resistant FSGS. At the time of ACTH initiation, the median serum creatinine (interquartile range) was 2.0 (1.1-2.7) mg/dl, estimated GFR was 36 (28-78) ml/min per 1.73 m(2), and urine protein-to-creatinine ratio was 4595 (2200-8020) mg/g. At the end of ACTH therapy, 7 of 24 patients (29%) experienced remission (n=2 complete remissions, n=5 partial remissions). All remitters had steroid-resistant (n=5) or steroid-dependent (n=2) FSGS. Two responders relapsed during the follow-up period (mean ± SD, 70±31 weeks). Adverse events occurred in 21 of 24 patients, including one episode of new-onset diabetes that resolved after stopping ACTH and two episodes of AKI. Response to ACTH treatment among steroid-resistant or steroid-dependent patients with FSGS is low, but ACTH gel may be a viable treatment option for some patients with resistant nephrotic syndrome due to idiopathic FSGS. Further research is necessary to determine which patients will respond to therapy.

Coexistence of chronic renal failure, hashimoto thyroiditis and idiopathic hypoparathyroidism: a rare case report.

PubMed

Yildiz, Saliha; Soyoral, Yasemin; Demirkiran, Davut; Ozturk, Mustafa

2014-04-01

Hypoparathyroidism is an uncommon disease and its coexistence with chronic renal failure is quite rare. Hypocalcemia and hyperphosphatemia are seen in both diseases. Diagnosis of hypoparathyroidism may be overlooked when parathormone response is not evaluated in patients with chronic renal failure. A 19-year-old female patient who had been receiving hemodialysis for 3 years because of chronic renal failure was diagnosed as idiopathic hypoparathyroidism and hashimoto thyroiditis. When her medical records on the first admission and medical history were evaluated, hypoparathyroidism and hashimoto thyroiditis were seen to be present also when she was started hemodialysis. Idiopathic hypoparathyroidism should be suspected in case as absence of parathormone response to hypocalcemia in patients with chronic renal failure. It should be taken into consideration that hashimoto thyroiditis may accompany and required analysis should be done.

Histiocytes in familial and infection-induced/idiopathic hemophagocytic syndromes may exhibit phenotypic differences.

PubMed

Buckley, P J; O'Laughlin, S; Komp, D M

1992-01-01

Familial hemophagocytic syndrome (FHS) and infection-associated hemophagocytic syndrome (IAHS) usually present with fever, pancytopenia, hepatosplenomegaly, signs of hepatic dysfunction, bleeding diathesis, and neurological manifestations. FHS is almost uniformly fatal, and IAHS is associated with high mortality. The only distinguishing characteristics are lack of family history and association with infection in the latter. Despite this, sporadic cases of FHS and culture-negative examples of IAHS (idiopathic HS) can be difficult to distinguish and the distinction may have important implications for treatment and family planning. We evaluated the immunophenotype of the macrophages (M phi s) in frozen tissue sections from three cases of hemophagocytic syndrome using a very large panel of monocyte/M phi-associated monoclonal antibodies and an immunoperoxidase technique. The clinical and laboratory features suggested that two were examples of FHS (one with strong family history) and that the third was IAHS/idiopathic HS. The results supported the clinical impressions by showing that the antigenic phenotypes of the FHS cases were nearly identical and different from that of the case of presumed IAHS/idiopathic HS. Specifically, M phi s from the FHS cases expressed complement receptors, 1, 2, and 3 (CD35, CD21, and CD11b, respectively), the monocyte antigen CD36, and the "activation" antigens CD25 (IL2-R) and CD30 (Ki-1), while those from the IAHS/idiopathic case did not. These studies also demonstrated that the M phi s in these cases exhibited some phenotypic differences from those in control tissues, that is, expression of the pan-M phi antigen CD14, the M phi subset antigen identified by antibody G16/1, complement receptors, certain monocyte antigens, and M phi "activation" antigens.(ABSTRACT TRUNCATED AT 250 WORDS)

The myositis autoantibody phenotypes of the juvenile idiopathic inflammatory myopathies.

PubMed

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

[Biologic therapy in idiopathic inflammatory myopathy].

PubMed

Selva-O'Callaghan, Albert; Ramos Casals, Manel; Grau Junyent, Josep M

2014-09-15

The aim of this article is to study the evidence-based knowledge related to the use of biological therapies in patients diagnosed with idiopathic inflammatory myopathy (dermatomyositis, polymyositis and inclusion body myositis). In this review the leading published studies related to the use of biological therapy in patients with myositis are analysed; mainly those with high methodological standards, that means randomized and controlled studies. Methodological drawbacks due to the rarity and heterogeneity of these complex diseases are also addressed. Up to now is not possible to ascertain the biologics as a recommended therapy in patients with myositis, at least based in the current evidence-based knowledge, although it can not be neglected as a therapeutic option in some clinical situations, taking into account the scarce of effective treatments in those patients, especially in refractory myositis. Future studies probably will help to better define the role of biological therapies in patients with idiopathic inflammatory myopathy. Copyright © 2013 Elsevier España, S.L.U. All rights reserved.

Three-Dimensional Spinal Morphology Can Differentiate Between Progressive and Nonprogressive Patients With Adolescent Idiopathic Scoliosis at the Initial Presentation

PubMed Central

Nault, Marie-Lyne; Mac-Thiong, Jean-Marc; Roy-Beaudry, Marjolaine; Turgeon, Isabelle; deGuise, Jacques; Labelle, Hubert

2014-01-01

Study Design. This is a prospective case-control study. Objective. The objective of this study was to compare 3-dimensional (3D) morphological parameters of the spine at the first visit between a nonprogressive (NP) and a progressive (P) group of immature adolescent idiopathic scoliosis (AIS). Summary of Background Data. Prediction of curve progression remains challenging in AIS at the first visit. Prediction of progression is based on curve type, curve magnitude, and skeletal or chronological age. Methods. A prospective cohort of 133 AIS was followed from skeletal immaturity to maturity (mean, 37 mo). The first group was made up of patients with AIS with a minimum 6-degree progression of the major curve between the first and last follow-up (P) (n = 53) and the second group was composed of patients with NP who reached maturity with less than 6-degree progression (n = 81). Computerized measurements were taken on reconstructed 3-dimensional (3D) spine radiographs of the first visit. There were 6 categories of measurements: angle of plane of maximum curvature, Cobb angles (kyphosis, lordosis), 3D wedging (apical vertebra, apical disks), rotation (upper and lower junctional vertebra, apical vertebra, and thoracolumbar junction), torsion, and slenderness (height/width ratio). t tests were also conducted. Results. There was no statistical difference between the 2 groups for age and initial Cobb angle. P presented significant hypokyphosis, and parameters related to rotation presented significant statistical differences between NP and P (plane of maximal curvature, torsion, and apical axial rotation). Depth slenderness also presented statistical differences. Conclusion. This study confirms that even at the initial visit, 3D morphological differences exist between P and NP AIS. It supports the use of 3D reconstructions of the spine in the initial evaluation of AIS to help predict outcome. Level of Evidence: 3 PMID:24776699

Causes of gynaecomastia in young adult males and factors associated with idiopathic gynaecomastia.

PubMed

Ersöz, Halil önder; Onde, Mehmet Emin; Terekeci, Hakan; Kurtoglu, Soner; Tor, Hayati

2002-10-01

Gynaecomastia is a common clinical condition. Persistent pubertal or late onset idiopathic gynaecomastia is the leading cause of gynaecomastia in different series. The aim of this study was the assessment of the prevalence and characteristics of different causes of gynaecomastia in young adult males, and evaluation of the factors associated with idiopathic gynaecomastia. Fifty-three male patients (mean age 22.04 +/- 2.22, range 19-29), who had been admitted to our outpatient clinics with gynaecomastia as the main presenting symptom were enrolled in the study. Patients were evaluated with breast palpation, breast ultrasonography, anthropometric measurements and sex steroid levels. Secondary causes of gynaecomastia were ruled out. Thirty age-matched healthy individuals were also studied as healthy control group. Idiopathic gynaecomastia was diagnosed in 31 of 53 patients (58%), with 17 (32%) persistent pubertal and 14 (24%) late onset course. Other causes of gynaecomastia were hypogonadism in 13 cases (25%), hyperprolactinaemia in five (9%), chronic liver disease in two (4%), and drug induced (prolonged use of H2 antagonists) in two (4%). Patients with idiopathic gynaecomastia, either pubertal or late onset, were compared with the healthy control group in order to find out associated factors. Anthropometric measurements revealed a significant increase in body weight and body mass index (BMI) in the patient group compared with healthy controls (72.4 +/- 13.3 vs. 63.6 +/- 7.9 kg, p = 0.0086 and 25.2 +/- 4.0 vs. 21.5 +/- 2.7 kg/m2, p = 0.0001). Total skin fold thickness (SFT) of four different regions were also higher in the patient group (50.9 +/- 22.1 vs. 32.6 +/- 10.2 mm, p = 0.0006) indicating a higher body fat percentage. Total serum testosterone (4.76 +/- 1.31 vs. 5.70 +/- 1.06 microg/mL, p = 0.0038) and luteinizing hormone (LH) (4.80 +/- 1.92 vs. 7.32 +/- 1.90 mIU/mL, p < 0.0001) levels were significantly lower in the patient group while oestradiol levels were

Lateral idiopathic subluxation of the radial head. Case report.

PubMed

Lancaster, S; Horowitz, M

1987-01-01

Idiopathic subluxation of the radial head (ISRH) is a rare entity that is separate from congenital dislocations of the radial head, both symptomatically and radiographically. ISRH causes pain and restriction of rotation. A dome-shaped radial head, a hypertrophied ulna, and a hypoplastic capitellum are not present in ISRH, as they are in a congenital dislocation of the radial head (CDRH). A true lateral ISRH is used as an example to demonstrate these differences. Remodeling of the radial head may preserve motion in the joint surface deformed by growth along abnormal planes of motion.

[Exercise therapy in the treatment of idiopathic adolescent scoliosis: Is it useful?].

PubMed

Porte, M; Patte, K; Dupeyron, A; Cottalorda, J

2016-06-01

Many practitioners, pediatricians, and general practitioners prescribe physical therapy when tracking scoliosis. However, has physical therapy alone proved its efficacy in the care of the scoliosis to slow down progression? Our purpose is to report the results of a literature review on the effectiveness of rehabilitation in idiopathic scoliosis. No current study presents sufficient scientific proof to validate the efficacy of isolated exercise therapy in scoliosis. Learned societies recognize, however, the efficacy of combining conservative therapy (brace+physiotherapy) in idiopathic scoliosis. Should we then still prescribe rehabilitation without brace treatment? Although physical therapy alone does not seem effective in treating scoliosis, it can limit potential painful phenomena and be beneficial for respiratory function. The physical therapist can also teach the teenager the classic principles of hygiene of the back. It may therefore be appropriate to prescribe physical therapy, but the principles and objectives must be explained to the patient and family in light of current evidence-based medicine. Copyright © 2016 Elsevier Masson SAS. All rights reserved.

Update on diagnosis and treatment of idiopathic pulmonary fibrosis

PubMed Central

Baddini-Martinez, José; Baldi, Bruno Guedes; da Costa, Cláudia Henrique; Jezler, Sérgio; Lima, Mariana Silva; Rufino, Rogério

2015-01-01

Idiopathic pulmonary fibrosis is a type of chronic fibrosing interstitial pneumonia, of unknown etiology, which is associated with a progressive decrease in pulmonary function and with high mortality rates. Interest in and knowledge of this disorder have grown substantially in recent years. In this review article, we broadly discuss distinct aspects related to the diagnosis and treatment of idiopathic pulmonary fibrosis. We list the current diagnostic criteria and describe the therapeutic approaches currently available, symptomatic treatments, the action of new drugs that are effective in slowing the decline in pulmonary function, and indications for lung transplantation. PMID:26578138

Idiopathic granulomatous mastitis: case report and review of the literature.

PubMed

Imoto, S; Kitaya, T; Kodama, T; Hasebe, T; Mukai, K

1997-08-01

We report a case of idiopathic granulomatous mastitis in a 35-year-old Japanese woman, who came to our hospital complaining of a tender mass in her right breast. Because the results of initial aspiration cytology were considered highly suspicious for carcinoma, modified radical mastectomy was performed. However, the final histological diagnosis was granulomatous lobular mastitis with no evidence of malignancy. Idiopathic granulomatous mastitis is a rare inflammatory breast disease of unknown etiology. Since the clinical manifestations are similar to those of mammary carcinoma, this condition has been misdiagnosed as carcinoma and treated as such. A review of the literature revealed that idiopathic granulomatous mastitis has tended to occur in young patients with a history of childbirth or oral contraceptive usage. Clinical or imaging diagnosis has often been difficult. Complete resection or corticosteroid therapy can be recommended as the optimal treatment. Since 38% of patients experience recurrence, long-term follow-up is indicated.

Immunomodulating and antiproteinuric effect of Hippophae rhamnoides (Badriphal) in idiopathic nephrotic syndrome.

PubMed

Singh, Rana Gopal; Singh, Parampal; Singh, Praveen Kumar; Usha; Agrawal, Aruna; Upadhyay, B N; Soni, Ashutosh

2013-06-01

The treatment of idiopathic nephrotic syndrome is still not well settled and at times is very frustrating. Number of protocols have been reported with variable results outcome in various conditions. The main pillar of treatment of idiopathic nephrotic syndrome is use of immunomodulating and suppressive drugs in various combinations. The herbal preparations have also been reported to have immunomodulating property. The study has been planned to record Immunomodulating and antiproteinuric effect of Hippophae rhamnoides. In the present study had 2 groups having 28 patients of idiopathic nephrotic syndrome in each group have been included. The patients were subjected to haematological, biochemical, immunological investigation at 0, 1, 2 and 3 months interval with dietic advise. Group A have been put on standard treatment, whereas group B on Badriphal in the well worked up doses. The hydroalcoholic extract of 350 mg twice daily of Badriphal was given to group B as add on treatment. Patients were followed up with definite protocol at monthly interval for 3 months. At the end of 3 month patients showed improvement in the symptoms of oedema, anorexia, oliguria in the herbal group. The urinary estimation of protein showed significant decrease in Group B with elevation of S. albumin levels. The inflammatory cytokines has showed significant decrease at the end of 3 month. Thus the pilot study showed beneficial effect of the herbal preparation Hippophae rhamnoides as add on treatment. A large perspective study is recommended to establish these findings.

Cellular and molecular basis of chronic constipation: taking the functional/idiopathic label out.

PubMed

Bassotti, Gabrio; Villanacci, Vincenzo; Creţoiu, Dragos; Creţoiu, Sanda Maria; Becheanu, Gabriel

2013-07-14

In recent years, the improvement of technology and the increase in knowledge have shifted several strongly held paradigms. This is particularly true in gastroenterology, and specifically in the field of the so-called "functional" or "idiopathic" disease, where conditions thought for decades to be based mainly on alterations of visceral perception or aberrant psychosomatic mechanisms have, in fact, be reconducted to an organic basis (or, at the very least, have shown one or more demonstrable abnormalities). This is particularly true, for instance, for irritable bowel syndrome, the prototype entity of "functional" gastrointestinal disorders, where low-grade inflammation of both mucosa and myenteric plexus has been repeatedly demonstrated. Thus, researchers have also investigated other functional/idiopathic gastrointestinal disorders, and found that some organic ground is present, such as abnormal neurotransmission and myenteric plexitis in esophageal achalasia and mucosal immune activation and mild eosinophilia in functional dyspepsia. Here we show evidence, based on our own and other authors' work, that chronic constipation has several abnormalities reconductable to alterations in the enteric nervous system, abnormalities mainly characterized by a constant decrease of enteric glial cells and interstitial cells of Cajal (and, sometimes, of enteric neurons). Thus, we feel that (at least some forms of) chronic constipation should no more be considered as a functional/idiopathic gastrointestinal disorder, but instead as a true enteric neuropathic abnormality.

[Idiopathic normal pressure hydrocephalus: High incidence in people over 80 years of age].

PubMed

Aragonès, Josep Maria; Altimiras, Jacint; Alonso, Francisco; Roura, Pere; Alfonso, Sebastián; Bajo, Lorena

Idiopathic normal pressure hydrocephalus is usually observed in adults over 60 years of age. The highest incidence of cases is between 70 and 80 years-old, and it could be under-diagnosed in over 80 year-olds. A description is presented on the overall incidence and age group incidence, the delay in the diagnosis, and main outcomes. A descriptive study was performed on patients with idiopathic normal pressure hydrocephalus, in the population of Osona County during the years 2010-2015. The annual incidence rate was 4.43 per 100,000 inhabitants. The incidence increased with age; from 8.09 per 100,000 in the 60 to 69 years age group, to 23.61 per 100,000 in the 70-79 years age group of, and to 37.02 per 100,000 in the 80-89 years age. The delay in the diagnosis was 15.01 ± 10.35 months. All the patients improved after surgery, but only 73.3% of the patients maintained the improvement after one year. Idiopathic normal pressure hydrocephalus is an age related disease and probably underdiagnosed in the elderly. An early diagnosis and a clinical suspicion are essential in patients over 80 years old. Copyright © 2017 SEGG. Publicado por Elsevier España, S.L.U. All rights reserved.

[Linkage analysis in an extended multigenerational family segregating for idiopathic epilepsy].

PubMed

Palacio, L G; Sánchez, J L; Jiménez, M E; Rivera-Valencia, D; Jiménez-Ramírez, I; Arcos, O M

Linkage analyses enable us to identify the loci that bestow susceptibility to certain diseases which are assumed to have a genetic aetiology by determining the cosegregation of alleles of specific markers within families. The aim of this study was to determine whether there is generalised idiopathic epilepsy (GIE) susceptibility in the 8q22.1 -q24.23, 16p13.3 and 21q22.3 regions within an extended multigenerational family belonging to the Paisa community in Antioquia, a genetic isolate located in Colombia segregating for GIE with a strong capacity for detecting linkage. A family with a number of individuals affected by idiopathic epilepsy who visited the Instituto Neurológico de Antioquia was selected for study. An affected individual was required to have been diagnosed by a neurologist as suffering from non-myoclonic idiopathic epilepsy or partial idiopathic epilepsy. All patients suspected of suffering from idiopathic epilepsy were submitted to video monitoring in order to characterise the seizures electroencephalographically. Of the 106 individuals in this family that were included in the family tree, 76 were genotyped, 15 of whom were affected by generalised clonic tonic seizures and six were considered to be possibly affected. Results of the lod score were significantly negative for all the markers in relation to each model that was considered. The possibility of the genes located in the 8q22.1 -q24.23, 16p13.3 and 21q22.3 regions being responsible for the familial aggregation of GIE in this family was ruled out, which is in accordance with claims made in previous studies conducted on other families.

A 7-Gene Signature Depicts the Biochemical Profile of Early Prefibrotic Myelofibrosis

PubMed Central

Skov, Vibe; Burton, Mark; Thomassen, Mads; Stauffer Larsen, Thomas; Riley, Caroline H.; Brinch Madelung, Ann; Kjær, Lasse; Bondo, Henrik; Stamp, Inger; Ehinger, Mats; Dahl-Sørensen, Rasmus; Brochmann, Nana; Nielsen, Karsten; Thiele, Jürgen; Jensen, Morten K.; Weis Bjerrum, Ole; Kruse, Torben A.; Hasselbalch, Hans Carl

2016-01-01

Recent studies have shown that a large proportion of patients classified as essential thrombocythemia (ET) actually have early primary prefibrotic myelofibrosis (prePMF), which implies an inferior prognosis as compared to patients being diagnosed with so-called genuine or true ET. According to the World Health Organization (WHO) 2008 classification, bone marrow histology is a major component in the distinction between these disease entities. However, the differential diagnosis between them may be challenging and several studies have not been able to distinguish between them. Most lately, it has been argued that simple blood tests, including the leukocyte count and plasma lactate dehydrogenase (LDH) may be useful tools to separate genuine ET from prePMF, the latter disease entity more often being featured by anemia, leukocytosis and elevated LDH. Whole blood gene expression profiling was performed in 17 and 9 patients diagnosed with ET and PMF, respectively. Using elevated LDH obtained at the time of diagnosis as a marker of prePMF, a 7-gene signature was identified which correctly predicted the prePMF group with a sensitivity of 100% and a specificity of 89%. The 7 genes included MPO, CEACAM8, CRISP3, MS4A3, CEACAM6, HEMGN, and MMP8, which are genes known to be involved in inflammation, cell adhesion, differentiation and proliferation. Evaluation of bone marrow biopsies and the 7-gene signature showed a concordance rate of 71%, 79%, 62%, and 38%. Our 7-gene signature may be a useful tool to differentiate between genuine ET and prePMF but needs to be validated in a larger cohort of “ET” patients. PMID:27579896

Neuropharmacological lesion localization in idiopathic Horner's syndrome in Golden Retrievers and dogs of other breeds.

PubMed

Simpson, Katherine M; Williams, David L; Cherubini, Giunio B

2015-01-01

To investigate whether idiopathic Horner's syndrome (HS) in Golden Retrievers is an exclusively preganglionic disorder based on denervation hypersensitivity pharmacological testing with phenylephrine. Medical records of dogs presented with HS between 2000 and 2012. Dogs presented with additional ocular or systemic signs were excluded. Clinical data examined included age, sex, duration of clinical signs, ancillary diagnostic test results, and time to mydriasis on topical ocular application of 1% phenylephrine. Lesions were diagnosed as postganglionic (mydriasis within 20 min) or preganglionic (mydriasis between 20 and 45 min). Medical records of 21 dogs of nine different breeds were included. An etiopathogenesis for Horner's syndrome was determined in five dogs, none of which were Golden Retrievers. All diagnoses correlated with pharmacological lesion localization. Ten Golden Retrievers were included (eight male and two female) with a mean age of 8.5 years (range: 4-13). Lesion localization was diagnosed as postganglionic in eight (mean: 10 min [range: 6-18]) and preganglionic in two Golden Retrievers (20 and 24 min). All cases were unilateral and had completely resolved within 15 weeks (range: 11-20). Recurrence was not reported in any of the patients. Idiopathic postganglionic HS was diagnosed in eight of 10 Golden Retrievers contradicting previous reports of a purely preganglionic localization. Etiopathogenesis of canine idiopathic HS remains to be determined; nevertheless, a vascular etiology cannot be excluded. Future studies using magnetic resonance angiography may aid in clarifying the pathogenesis. © 2013 American College of Veterinary Ophthalmologists.

Concurrent MPL515 and JAK2V617F mutations in myelofibrosis: chronology of clonal emergence and changes in mutant allele burden over time.

PubMed

Lasho, Terra L; Pardanani, Animesh; McClure, Rebecca F; Mesa, Ruben A; Levine, Ross L; Gilliland, D Gary; Tefferi, Ayalew

2006-12-01

MPLW515L/K and JAK2V617F can co-exist in myelofibrosis with myeloid metaplasia (MMM). The chronology of clonal emergence was studied in three such cases using serially stored bone marrow. At diagnosis, a major MPL515 mutant clone was accompanied by a minor JAK2V617F clone in all three instances. At 25 time points over a period of 4-8 years, allele burden fluctuated but remained high for MPLW515L/K and low for JAK2V617F. We conclude that MPLW515L/K and JAK2V617F are both early events in MMM and allele burden, rather than the mere presence of these mutations, might be relevant to phenotypic variation in myeloproliferative disorders.

How Does Cholecystectomy Influence Recurrence of Idiopathic Acute Pancreatitis?

PubMed

Stevens, Claire L; Abbas, Saleh M; Watters, David A K

2016-12-01

Idiopathic acute pancreatitis is diagnosed in approximately 10-30 % of cases of acute pancreatitis. While there is evidence to suggest that the cause in many of these patients is microlithiasis, this fact has not been translated into a resource efficient treatment strategy that is proven to reduce recurrence rates. The aim of this study was to examine the value of prophylactic cholecystectomy following an episode of acute pancreatitis in patients with no history of alcohol abuse and no stones found on ultrasound. This was a retrospective study of 2236 patients who presented to a regional Australian hospital. Patients were included when diagnosed with acute pancreatitis with no confirmed cause. Recurrence of acute pancreatitis was compared between those that did and did not undergo cholecystectomy. One hundred ninety-five consecutive patients met the study definition of "idiopathic" acute pancreatitis. 33.8 % (66/195) underwent cholecystectomy. The patients who had cholecystectomy had a recurrence rate of 19.7 % (13/66) whereas, of those managed expectantly, 42.8 % (68/159) had at least one recurrence of acute pancreatitis (P = 0.001). Following an episode of acute pancreatitis with no identifiable cause, in patients fit for surgery, cholecystectomy should be considered to reduce the risk of recurrent episodes of pancreatitis.

Therapeutic Options in Idiopathic Burning Mouth Syndrome: Literature Review

PubMed Central

Miziara, Ivan; Chagury, Azis; Vargas, Camila; Freitas, Ludmila; Mahmoud, Ali

2014-01-01

Introduction Burning mouth syndrome (BMS) is characterized by a burning sensation in the tongue, palate, lips, or gums of no well-defined etiology. The diagnosis and treatment for primary BMS are controversial. No specific laboratory tests or diagnostic criteria are well established, and the diagnosis is made by excluding all other possible disorders. Objective To review the literature on the main treatment options in idiopathic BMS and compare the best results of the main studies in 15 years. Data Synthesis We conducted a literature review on PubMed/MEDLINE, SciELO, and Cochrane-BIREME of work in the past 15 years, and only selected studies comparing different therapeutic options in idiopathic BMS, with preference for randomized and double-blind controlled studies. Final Comments Topical clonazepam showed good short-term results for the relief of pain, although this was not presented as a definitive cure. Similarly, α-lipoic acid showed good results, but there are few randomized controlled studies that showed the long-term results and complete remission of symptoms. On the other hand, cognitive therapy is reported as a good and lasting therapeutic option with the advantage of not having side effects, and it can be combined with pharmacologic therapy. PMID:25992157

Prevalence of dyslipidemia among Iranian patients with idiopathic tinnitus.

PubMed

M-Shirazi, Minoo; Farhadi, Mohammad; Jalessi, Maryam; Kamrava, Seyyed-Kamran; Behzadi, Ashkan Heshmatzade; Arami, Behin

2011-07-01

Tinnitus is a sense of sound perception in absence of an external source which can affect life quality. Different conditions may lead to tinnitus including metabolic disorders such as dyslipidemia. The aim of this study was to investigate the prevalence of dyslipidemia among Iranian patients with idiopathic tinnitus. This was a cross-sectional study in which prevalence of dyslipidemia in fasting state and its subclasses were assessed in 1043 tinnitus patients aged 12-90 years who referred to Rasool Akram Hospital, Tehran, Iran, 2006-2009. Data was summarized by SPSS software version 17 and one sample t-test and Chi-Square test were applied to analyze the results. P less than 0.05 were considered significant. The most prevalent type of dyslipidemia was hypercholesterolemia with the frequency of 14.4% followed by low HDL-C with the frequency of 12.8%. Mean of total cholesterol, HDL-C, LDL-C and triglyceride levels in all patients were not greater than general population. Based on the results of the present study, there might be no need to check the serum lipid profile in tinnitus patients. We recommend further studies to assess both fasting and postprandial serum lipid profile in patients with idiopathic tinnitus. Simultaneous investigation of their dietary intake is also suggested.

"Idiopathic" mental retardation and new chromosomal abnormalities

PubMed Central

2010-01-01

Mental retardation is a heterogeneous condition, affecting 1-3% of general population. In the last few years, several emerging clinical entities have been described, due to the advent of newest genetic techniques, such as array Comparative Genomic Hybridization. The detection of cryptic microdeletion/microduplication abnormalities has allowed genotype-phenotype correlations, delineating recognizable syndromic conditions that are herein reviewed. With the aim to provide to Paediatricians a combined clinical and genetic approach to the child with cognitive impairment, a practical diagnostic algorithm is also illustrated. The use of microarray platforms has further reduced the percentage of "idiopathic" forms of mental retardation, previously accounted for about half of total cases. We discussed the putative pathways at the basis of remaining "pure idiopathic" forms of mental retardation, highlighting possible environmental and epigenetic mechanisms as causes of altered cognition. PMID:20152051

Anterior hypopituitarism is rare and autoimmune disease is common in adults with idiopathic central diabetes insipidus.

PubMed

Hannon, M J; Orr, C; Moran, C; Behan, L A; Agha, A; Ball, S G; Thompson, C J

2012-05-01

Central diabetes insipidus is a rare clinical condition with a heterogenous aetiology. Up to 40% of cases are classified as idiopathic, although many of these are thought to have an autoimmune basis. Published data have suggested that anterior hypopituitarism is common in childhood-onset idiopathic diabetes insipidus. We aimed to assess the incidence of anterior hypopituitarism in a cohort of adult patients with idiopathic diabetes insipidus. We performed a retrospective review of the databases of two pituitary investigation units. This identified 39 patients with idiopathic diabetes insipidus. All had undergone magnetic resonance imaging scanning and dynamic pituitary testing (either insulin tolerance testing or GHRH/arginine and short synacthen testing) to assess anterior pituitary function. One patient had partial growth hormone deficiency; no other anterior pituitary hormonal deficits were found. Thirty-three percent had at least one autoimmune disease in addition to central diabetes insipidus. Our data suggest that anterior hypopituitarism is rare in adult idiopathic diabetes insipidus. Routine screening of these patients for anterior hypopituitarism may not, therefore, be indicated. The significant prevalence of autoimmune disease in this cohort supports the hypothesis that idiopathic diabetes insipidus may have an autoimmune aetiology. © 2012 Blackwell Publishing Ltd.

Trunk rotational strength asymmetry in adolescents with idiopathic scoliosis: an observational study

PubMed Central

McIntire, Kevin L; Asher, Marc A; Burton, Douglas C; Liu, Wen

2007-01-01

Background Recent reports have suggested a rotational strength weakness in rotations to the concave side in patients with idiopathic scoliosis. There have been no studies presenting normative values of female adolescent trunk rotational strength to which a comparison of female adolescents with idiopathic scoliosis could be made. The purpose of this study was to determine trunk rotational strength asymmetry in a group of female adolescents with AIS and a comparison group of healthy female adolescents without scoliosis. Methods Twenty-six healthy adolescent females served as the healthy group (HG) (average age 14 years) and fourteen otherwise healthy adolescent females with idiopathic scoliosis served as the idiopathic scoliosis group (ISG) (average age 13.5 years, average Cobb 28°). Participant's isometric trunk rotational strength was measured in five randomly ordered trunk positions: neutral, 18° and 36° of right and left pre-rotation. Rotational strength asymmetry was compared within each group and between the two groups using several different measures. Results The HG showed strength asymmetry in the 36° pre-rotated trunk positions when rotating towards the midline (p < 0.05). The ISG showed strength asymmetry when rotating towards the concavity of their primary curve from the neutral position (p < 0.05) and when rotating towards the concavity from the 18° (p < 0.05) and 36° (p < 0.05) concave pre-rotated positions. The ISG is significantly weaker than the HG when rotating away from the midline toward the concave (ISG)-left (HG) side from the concave/left pre-rotated 18° (p < 0.05) and 36° (p < 0.05) positions. Conclusion The AIS females were found to be significantly weaker when contracting toward their main curve concavity in the neutral and concave pre-rotated positions compared to contractions toward the convexity. These weaknesses were also demonstrated when compared to the group of healthy female adolescent controls. Possible mechanisms for the

Idiopathic Canalicular Inflammatory Disease: New Disease Description of Clinical Patterns, Investigations, Management, and Outcomes.

PubMed

Ali, Mohammad Javed

2018-01-25

The objective of this perspective is to present a separate disease description of "idiopathic canalicular inflammatory disease" and outline the diagnostic criteria and early experiences with its investigations and management. Retrospective case series of 44 canaliculi of 22 eyes of 11 patients presenting at a tertiary care Dacryology service over a period of 2 years with typical clinical patterns of inflammatory canaliculitis and its outcomes were studied. All the patients underwent microbiological work-up with culture and sensitivity, dacryoendoscopy imaging, serial Fourier domain ocular coherence tomography, and collagen vascular profiles. Stages in the evolution of the disease were studied. All patients were treated initially with topical steroids followed by punctal dilatation and placement of mini-monoka stents. Five patients in addition had a small biopsy from the inflamed portion of the vertical canaliculus. Stents were extubated at 6 weeks. Forty-four canaliculi were diagnosed to have idiopathic canalicular inflammatory disease during the study period. There was a female preponderance (81.8%, 9/11) and the mean age at presentation was 57 years. All patients presented with unilateral epiphora without any discharge, pain, or swelling. Collagen vascular profiles and screening for autoimmune diseases were negative. Clinical picture ranged from stages 1 to 5, consisting of edema, progressive centripetal vascularization, pouting of vascularized mucosa, membrane formation, and progressive scarring. The presentation begins in 1 eye and usually involves the other eye at a mean of 6 months. Ocular coherence tomography and dacryoendoscopy were of adjunctive value in the diagnosis. Histopathological examination was suggestive of a chronic inflammation. All patients had relentless progression to end-stage disease, although delayed significantly by steroids and monoka intubation. Idiopathic canalicular inflammatory disease has a distinct and typical clinical behavior and

Sigmoid Sinus Diverticulum, Dehiscence, and Venous Sinus Stenosis: Potential Causes of Pulsatile Tinnitus in Patients with Idiopathic Intracranial Hypertension?

PubMed

Lansley, J A; Tucker, W; Eriksen, M R; Riordan-Eva, P; Connor, S E J

2017-09-01

Pulsatile tinnitus is experienced by most patients with idiopathic intracranial hypertension. The pathophysiology remains uncertain; however, transverse sinus stenosis and sigmoid sinus diverticulum/dehiscence have been proposed as potential etiologies. We aimed to determine whether the prevalence of transverse sinus stenosis and sigmoid sinus diverticulum/dehiscence was increased in patients with idiopathic intracranial hypertension and pulsatile tinnitus relative to those without pulsatile tinnitus and a control group. CT vascular studies of patients with idiopathic intracranial hypertension with pulsatile tinnitus ( n = 42), without pulsatile tinnitus ( n = 37), and controls ( n = 75) were independently reviewed for the presence of severe transverse sinus stenosis and sigmoid sinus diverticulum/dehiscence according to published criteria. The prevalence of transverse sinus stenosis and sigmoid sinus diverticulum/dehiscence in patients with idiopathic intracranial hypertension with pulsatile tinnitus was compared with that in the nonpulsatile tinnitus idiopathic intracranial hypertension group and the control group. Further comparisons included differing degrees of transverse sinus stenosis (50% and 75%), laterality of transverse sinus stenosis/sigmoid sinus diverticulum/dehiscence, and ipsilateral transverse sinus stenosis combined with sigmoid sinus diverticulum/dehiscence. Severe bilateral transverse sinus stenoses were more frequent in patients with idiopathic intracranial hypertension than in controls ( P < .001), but there was no significant association between transverse sinus stenosis and pulsatile tinnitus within the idiopathic intracranial hypertension group. Sigmoid sinus dehiscence (right- or left-sided) was also more common in patients with idiopathic intracranial hypertension compared with controls ( P = .01), but there was no significant association with pulsatile tinnitus within the idiopathic intracranial hypertension group. While our data

[Identifying clinical risk factors in recurrent idiopathic deep venous thrombosis].

PubMed

Del Río Solá, M Lourdes; González Fajardo, José Antonio; Vaquero Puerta, Carlos

2016-03-18

Oral anticoagulant therapy for more than 6 months in patients with an episode of idiopathic thromboembolic disease is controversial. The objective was to determine predictive clinical signs that identify patients at increased risk of thromboembolic recurrence after stopping anticoagulant therapy for 6 months after an episode of idiopathic deep vein thrombosis (DVT). A prospective study which included 306 consecutive patients with a first episode of idiopathic DVT from June 2012 to June 2014. Predictor variables of recurrent thromboembolic disease and episodes of recurrence during follow-up of the patients (28.42 months) were collected. We performed a multivariate analysis to analyze possible predictors (P<.20) and an analysis of Kaplan-Meier to establish mean recurrence-free survival. We identified 91 episodes of residual vein thrombosis on follow-up of the patients (37.5% men and 20.3% women) (OR 1.84; 95% CI 1.25-2.71). In the Cox regression analysis stratified by gender, variables showed significant presence of hyperechoic thrombus (P=.001) in males, and persistence of residual thrombus in women (P=.046). The mean recurrence-free survival was shorter in both groups. The presence of echogenic thrombus in men and the existence of residual DVT in women were 2 clinical signs associated with increased risk of thromboembolic recurrence after stopping anticoagulant therapy for 6 months after an episode of idiopathic DVT in our study. Copyright © 2015 Elsevier España, S.L.U. All rights reserved.

Treatment of Refractory Idiopathic Supraorbital Neuralgia Using Percutaneous Pulsed Radiofrequency.

PubMed

Luo, Fang; Lu, Jingjing; Ji, Nan

2018-02-26

No ideal therapeutic method currently exists for refractory idiopathic supraorbital neuralgia patients who do not respond to conservative therapy, including medications and nerve blocks. Pulsed radiofrequency is a neuromodulation technique that does not produce sequelae of nerve damage after treatment. However, the efficacy of percutaneous pulsed radiofrequency for the treatment of refractory idiopathic supraorbital neuralgia is still not clear. The purpose of our study was to evaluate the efficacy and safety of pulsed radiofrequency treatment of the supraorbital nerve for refractory supraorbital neuralgia patients. We prospectively investigated the long-term effects of ultrasound-guided percutaneous pulsed radiofrequency in the treatment of 22 refractory idiopathic supraorbital neuralgia patients. A reduction in the verbal pain numeric rating scale score of more than 50% was used as the standard of effectiveness. The effectiveness rates at different time points within 2 years were calculated. After a single pulsed radiofrequency treatment, the effectiveness rate at 1 and 3 months was 77%, and the rates at 6 months, 1 year, and 2 years were 73%, 64%, and 50%, respectively. Except for a small portion of patients (23%) who experienced mild upper eyelid ecchymosis that gradually disappeared after approximately 2 weeks, no obvious complications were observed. In conclusion, the results of our study demonstrate that for patients with refractory idiopathic supraorbital neuralgia, percutaneous pulsed radiofrequency may be an effective and safe treatment choice. © 2018 World Institute of Pain.

Auditory verbal memory and psychosocial symptoms are related in children with idiopathic epilepsy.

PubMed

Schaffer, Yael; Ben Zeev, Bruria; Cohen, Roni; Shuper, Avinoam; Geva, Ronny

2015-07-01

Idiopathic epilepsies are considered to have relatively good prognoses and normal or near normal developmental outcomes. Nevertheless, accumulating studies demonstrate memory and psychosocial deficits in this population, and the prevalence, severity and relationships between these domains are still not well defined. We aimed to assess memory, psychosocial function, and the relationships between these two domains among children with idiopathic epilepsy syndromes using an extended neuropsychological battery and psychosocial questionnaires. Cognitive abilities, neuropsychological performance, and socioemotional behavior of 33 early adolescent children, diagnosed with idiopathic epilepsy, ages 9-14years, were assessed and compared with 27 age- and education-matched healthy controls. Compared to controls, patients with stabilized idiopathic epilepsy exhibited higher risks for short-term memory deficits (auditory verbal and visual) (p<0.0001), working memory deficits (p<0.003), auditory verbal long-term memory deficits (p<0.0021), and more frequent psychosocial symptoms (p<0.0001). The severity of auditory verbal memory deficits was related to severity of psychosocial symptoms among the children with epilepsy but not in the healthy controls. Results suggest that deficient auditory verbal memory may be compromising psychosocial functioning in children with idiopathic epilepsy, possibly underscoring that cognitive variables, such as auditory verbal memory, should be assessed and treated in this population to prevent secondary symptoms. Copyright © 2015 Elsevier Inc. All rights reserved.

The Clinical Characteristics of Patients with Chronic Idiopathic Anal Pain

PubMed Central

Mao, Weiming; Liao, Xiujun; Wu, Wenjing; Yu, Yanyan; Yang, Guangen

2017-01-01

Abstract The aim of this study was to investigate the clinical characteristics, treatment outcomes and psychological distress in patients with chronic idiopathic anal pain. The study was conducted on patients referred to Hangzhou Third Hospital for chronic anal pain from January, 2010 to December, 2014. Patient demographics, clinical history, anorectal physiology, and radiological imaging data were recorded for all patients. The treatment outcome was noted for patients treated and followed up for more than 6 month at the present unit. Ninety-six patients with mean age of 45.1 years (range, 17-82) were studied. Seventy-one patients (74.0%) had functional anorectal pain(FARP). The main complaints were dull, sharp, stabbing, or spasm pain. Among all patients, 34.3% reported that their pain radiated into other locations. Fifty-one patients (53.1%) had bowel dysfunction, while 28.1% patients had urinary dysfunction. The common factors associated with pain relief were day time, lying down and warm water baths; the factors that contributed to aggravated pain were night time, defecation or sitting. 92.7% (89/96) of patients reported symptoms of psychological disturbance. FARP patients exhibited increased depression than non-FARP patients(P<0.05). In addition, female patients were more likely to have depression than male patients (P<0.05). The overall pain treatment success rate was 55.2% (53/96). The pain treatment outcome was better in non-FARP patients than in FARP patients(χ2=3.85, P<0.05). Conclusively, chronic idiopathic anal pain is a complex clinical symptom, involving pelvic floor muscles, the nervous system, endocrine system, and the patients’ psychological conditions. Further research is needed to improve diagnosis and treatment for patients with chronic idiopathic anal pain. PMID:28730167

Familial Idiopathic Cranial Neuropathy in a Chinese Family.

PubMed

Zhang, Li; Liang, Jianfeng; Yu, Yanbing

Cranial neuropathy is usually idiopathic and familial cases are uncommon. We describe a family with 5 members with cranial neuropathy over 3 generations. All affected patients were women, indicating an X-linked dominant or an autosomal dominant mode of inheritance. Our cases and a review of the literature suggest that familial idiopathic cranial neuropathy is a rare condition which may be related to autosomal dominant vascular disorders (e.g. vascular tortuosity, sclerosis, elongation or extension), small posterior cranial fossas, anatomical variations of the posterior circulation, hypersensitivity of cranial nerves and other abnormalities. Moreover, microvascular decompression is the treatment of choice because vascular compression is the main factor in the pathogenesis. To the best of our knowledge, this is the first report of familial cranial neuropathy in China.

Physical examination in adolescent idiopathic scoliosis.

PubMed

Diab, Mohammad

2007-04-01

The following distinguish the physical examination in scoliosis: it is extensive, it is revealing, and it influences treatment. Throughout this discussion, reference frequently is made to evaluation for underlying neural disease. Idiopathic scoliosis is a diagnosis of exclusion, and a neural etiology of spinal deformity must be ruled out in every case.

Idiopathic remitting seronegative symmetrical synovitis with pitting edema syndrome associated with bilateral pleural and pericardial effusions: a case report.

PubMed

Yanamoto, Shozaburo; Fukae, Jiro; Fukiyama, Yurie; Fujioka, Shinsuke; Ouma, Shinji; Tsuboi, Yoshio

2016-07-20

Remitting seronegative symmetrical synovitis with pitting edema syndrome is characterized by symmetrical synovitis with pitting edema in the dorsum of the hands or feet. Most cases of remitting seronegative symmetrical synovitis with pitting edema syndrome are idiopathic, but some are secondary to malignancy, autoimmune disease, or neurodegenerative disorders. Pleural and pericardial effusions are unusual complications in idiopathic remitting seronegative symmetrical synovitis with pitting edema syndrome. A 74-year-old Japanese woman presented to our hospital with arthralgia and pitting edema in her feet. She had pain in multiple joints, peripheral edema, and a markedly elevated erythrocyte sedimentation rate. Enhanced computed tomography and laboratory data showed no evidence of malignancy. These findings suggested that she had idiopathic remitting seronegative symmetrical synovitis with pitting edema syndrome. She also developed respiratory distress because of bilateral pleural and pericardial effusions. Laboratory data showed that serum vascular endothelial growth factor and interleukin-6 were significantly elevated. After administration of steroids, her pleural and pericardial effusions decreased and finally disappeared. Furthermore, vascular endothelial growth factor and interleukin-6 decreased when the pleural and pericardial effusions disappeared. Here we report the case of a patient with idiopathic remitting seronegative symmetrical synovitis with pitting edema syndrome associated with life-threatening complications, including bilateral pleural and pericardial effusions during the course of the illness, which led to respiratory failure and atrial fibrillation. Elevated vascular endothelial growth factor and interleukin-6 may be associated with the cause of pleural and pericardial effusions in idiopathic remitting seronegative symmetrical synovitis with pitting edema syndrome.

Facioskeletal changes in children with juvenile idiopathic arthritis

PubMed Central

Twilt, M; Schulten, A J M; Nicolaas, P; Dülger, A; van Suijlekom‐Smit, L W A

2006-01-01

Objective To investigate the facioskeletal morphology in patients with juvenile idiopathic arthritis (JIA) with and without temporomandibular joint (TMJ) involvement. Methods Eighty five patients were included. TMJ involvement was defined by orthopantomogram alterations. Lateral cephalograms were used to determine linear and angular measurements and occlusion. Results Patients regardless of their TMJ status had a 67% chance for retrognathia and a 52% chance for posterior rotation of the mandible and, respectively, 82% and 58% if TMJ involvement were present. Changes were not uniformly distributed among the different subtypes. Conclusion Patients with JIA have an altered facial morphology, especially in the presence of TMJ involvement. PMID:16699052

Physiotherapy in pauciarticular juvenile idiopathic arthritis. Case study.

PubMed

Zuk, Beata; Kaczor, Zofia; Zuk-Drążyk, Berenika; Księżopolska-Orłowska, Krystyna

2014-01-01

Juvenile idiopathic arthritis (JIA) is the most common arthropathy of childhood and adolescence. This term encompasses a group of chronic systemic inflammatory diseases of the connective tissue which cause arthritis in patients under 16 years of age lasting at least 6 weeks. The authors presented the characteristic features of physiotherapy based on functional examination results on the basis of two cases of girls with pauciarticular JIA treated according to an established pharmacological regimen. Physiotherapy should be introduced at an early stage of the disease. Kinesiotherapy preceded by history-taking and a functional examination of the patient, has to focus on both primary and secondary joint lesions.

Idiopathic Syringomyelia in a Military Helicopter Pilot.

PubMed

Schiemer, Anthony

2017-10-01

A syrinx is a fluid-filled cavity within the spinal cord. They can lead to a variety of symptoms, including limb weakness and back pain. Incidental finding of syringomyelia provides a challenge for clinicians due to the wide variety of possible symptoms. In military aviation, neurological findings in pilots can result in extensive investigation that can lead to potentially invasive management. Conversely, the potential for chronic progression of a spinal syrinx and subsequent neurological deterioration makes early identification critical. Ultimately, the discovery of a lesion may have implications for flying status and operational capability. A 25-yr-old man working as a navy Seahawk helicopter pilot presented with episodes of right arm paraesthesia and pain between the scapulae. On at least one occasion, these symptoms woke him at night. Upon magnetic resonance imaging, dilatation of the central canal in a syrinx-like pattern in the lower cervical region was noted. Neurology review suggested the finding was persistent and unlikely to be responsible for his symptoms. No surgical input was recommended. His symptoms were attributed to mild cervical spondylosis, which resolved with ongoing physiotherapy, and he was returned to flying status. This case highlights several issues involved with the incidental finding of a syringomyelia. Surgical intervention has been known to worsen symptoms. Conversely, studies have identified minimal radiological progression in cases of idiopathic syringomyelia, with fewer individuals displaying neurological deterioration. For aircrew, potentially unnecessary neurosurgical intervention poses risks to a flying career and overall operational capability.Schiemer A. Idiopathic syringomyelia in a military helicopter pilot. Aerosp Med Hum Perform. 2017; 88(10):962-965.

Idiopathic paraproteinaemia. I. Studies in an animal model--the ageing C57BL/KaLwRij mouse.

PubMed Central

Radl, J; Hollander, C F; van den Berg, P; de Glopper, E

1978-01-01

A search for a suitable animal model for studies on idiopathic paraproteinaemia showed that an age-dependent increase in the appearance of homogeneous immunoglobulins in serum was common to all of the seven mouse strains investigated to date. The highest frequency was found in C57Bl/KaLwRij mice. Further investigations in this strain demonstrated that, except for some quantitative differences, most of the features of human and C57BL Mouse idiopathic paraproteinaemia were essentially the same. No clear-cut correlation was found between the idiopathic paraproteinaemia and, in the old C57B1 mice, a rather frequently occurring reticulum cell sarcoma B and amyloidosis. The mouse idiopathic paraproteinaemia can be regarded as an analogue of the human idiopathic paraproteinaemia and therefore as a suitable model for further experimental studies. PMID:367647

Clinical effect of driver mutations of JAK2, CALR, or MPL in primary myelofibrosis.

PubMed

Rumi, Elisa; Pietra, Daniela; Pascutto, Cristiana; Guglielmelli, Paola; Martínez-Trillos, Alejandra; Casetti, Ilaria; Colomer, Dolors; Pieri, Lisa; Pratcorona, Marta; Rotunno, Giada; Sant'Antonio, Emanuela; Bellini, Marta; Cavalloni, Chiara; Mannarelli, Carmela; Milanesi, Chiara; Boveri, Emanuela; Ferretti, Virginia; Astori, Cesare; Rosti, Vittorio; Cervantes, Francisco; Barosi, Giovanni; Vannucchi, Alessandro M; Cazzola, Mario

2014-08-14

We studied the impact of driver mutations of JAK2, CALR, (calreticulin gene) or MPL on clinical course, leukemic transformation, and survival of patients with primary myelofibrosis (PMF). Of the 617 subjects studied, 399 (64.7%) carried JAK2 (V617F), 140 (22.7%) had a CALR exon 9 indel, 25 (4.0%) carried an MPL (W515) mutation, and 53 (8.6%) had nonmutated JAK2, CALR, and MPL (so-called triple-negative PMF). Patients with CALR mutation had a lower risk of developing anemia, thrombocytopenia, and marked leukocytosis compared with other subtypes. They also had a lower risk of thrombosis compared with patients carrying JAK2 (V617F). At the opposite, triple-negative patients had higher incidence of leukemic transformation compared with either CALR-mutant or JAK2-mutant patients. Median overall survival was 17.7 years in CALR-mutant, 9.2 years in JAK2-mutant, 9.1 years in MPL-mutant, and 3.2 years in triple-negative patients. In multivariate analysis corrected for age, CALR-mutant patients had better overall survival than either JAK2-mutant or triple-negative patients. The impact of genetic lesions on survival was independent of current prognostic scoring systems. These observations indicate that driver mutations define distinct disease entities within PMF. Accounting for them is not only relevant to clinical decision-making, but should also be considered in designing clinical trials. © 2014 by The American Society of Hematology.

Clinical effect of driver mutations of JAK2, CALR, or MPL in primary myelofibrosis

PubMed Central

Rumi, Elisa; Pietra, Daniela; Pascutto, Cristiana; Guglielmelli, Paola; Martínez-Trillos, Alejandra; Casetti, Ilaria; Colomer, Dolors; Pieri, Lisa; Pratcorona, Marta; Rotunno, Giada; Sant’Antonio, Emanuela; Bellini, Marta; Cavalloni, Chiara; Mannarelli, Carmela; Milanesi, Chiara; Boveri, Emanuela; Ferretti, Virginia; Astori, Cesare; Rosti, Vittorio; Cervantes, Francisco; Barosi, Giovanni; Vannucchi, Alessandro M.

2014-01-01

We studied the impact of driver mutations of JAK2, CALR, (calreticulin gene) or MPL on clinical course, leukemic transformation, and survival of patients with primary myelofibrosis (PMF). Of the 617 subjects studied, 399 (64.7%) carried JAK2 (V617F), 140 (22.7%) had a CALR exon 9 indel, 25 (4.0%) carried an MPL (W515) mutation, and 53 (8.6%) had nonmutated JAK2, CALR, and MPL (so-called triple-negative PMF). Patients with CALR mutation had a lower risk of developing anemia, thrombocytopenia, and marked leukocytosis compared with other subtypes. They also had a lower risk of thrombosis compared with patients carrying JAK2 (V617F). At the opposite, triple-negative patients had higher incidence of leukemic transformation compared with either CALR-mutant or JAK2-mutant patients. Median overall survival was 17.7 years in CALR-mutant, 9.2 years in JAK2-mutant, 9.1 years in MPL-mutant, and 3.2 years in triple-negative patients. In multivariate analysis corrected for age, CALR-mutant patients had better overall survival than either JAK2-mutant or triple-negative patients. The impact of genetic lesions on survival was independent of current prognostic scoring systems. These observations indicate that driver mutations define distinct disease entities within PMF. Accounting for them is not only relevant to clinical decision-making, but should also be considered in designing clinical trials. PMID:24986690

Evidence of Impaired Proprioception in Chronic, Idiopathic Neck Pain: Systematic Review and Meta-Analysis

PubMed Central

Leake, Hayley B.; Chalmers, K. Jane; Moseley, G. Lorimer

2016-01-01

Background Despite common use of proprioceptive retraining interventions in people with chronic, idiopathic neck pain, evidence that proprioceptive dysfunction exists in this population is lacking. Determining whether proprioceptive dysfunction exists in people with chronic neck pain has clear implications for treatment prescription. Purpose The aim of this study was to synthesize and critically appraise all evidence evaluating proprioceptive dysfunction in people with chronic, idiopathic neck pain by completing a systematic review and meta-analysis. Data Sources MEDLINE, CINAHL, PubMed, Allied and Complementary Medicine, EMBASE, Academic Search Premier, Scopus, Physiotherapy Evidence Database (PEDro), and Cochrane Collaboration databases were searched. Study Selection All published studies that compared neck proprioception (joint position sense) between a chronic, idiopathic neck pain sample and asymptomatic controls were included. Data Extraction Two independent reviewers extracted relevant population and proprioception data and assessed methodological quality using a modified Strengthening the Reporting of Observational Studies in Epidemiology (STROBE) statement. Data Synthesis Thirteen studies were included in the present review. Meta-analysis on 10 studies demonstrated that people with chronic neck pain perform significantly worse on head-to-neutral repositioning tests, with a moderate standardized mean difference of 0.44 (95% confidence interval=0.25, 0.63). Two studies evaluated head repositioning using trunk movement (no active head movement thus hypothesized to remove vestibular input) and showed conflicting results. Three studies evaluated complex or postural repositioning tests; postural repositioning was no different between groups, and complex movement tests were impaired only in participants with chronic neck pain if error was continuously evaluated throughout the movement. Limitations A paucity of studies evaluating complex or postural repositioning

Small vertebral cross-sectional area and tall intervertebral disc in adolescent idiopathic scoliosis.

PubMed

Ponrartana, Skorn; Fisher, Carissa L; Aggabao, Patricia C; Chavez, Thomas A; Broom, Alexander M; Wren, Tishya A L; Skaggs, David L; Gilsanz, Vicente

2016-09-01

When compared to boys, girls have smaller vertebral cross-sectional area, which conveys a greater spinal flexibility, and a higher prevalence of adolescent idiopathic scoliosis. To test the hypothesis that small vertebral cross-sectional area and tall intervertebral disc height are structural characteristics of patients with adolescent idiopathic scoliosis. Using multiplanar imaging techniques, measures of vertebral cross-sectional area, vertebral height and intervertebral disc height in the lumbar spine were obtained in 35 pairs of girls and 11 pairs of boys with and without adolescent idiopathic scoliosis of the thoracic spine matched for age, height and weight. Compared to adolescents without spinal deformity, girls and boys with adolescent idiopathic scoliosis had, on average, 9.8% (6.68 ± 0.81 vs. 7.40 ± 0.99 cm(2); P = 0.0007) and 13.9% (8.22 ± 0.84 vs. 9.55 ± 1.61 cm(2); P = 0.009) smaller vertebral cross-sectional dimensions, respectively. Additionally, patients with adolescent idiopathic scoliosis had significantly greater values for intervertebral disc heights (9.06 ± 0.85 vs. 7.31 ± 0.62 mm and 9.09 ± 0.87 vs. 7.61 ± 1.00 mm for girls and boys respectively; both P ≤ 0.011). Multiple regression analysis indicated that the presence of scoliosis was negatively associated with vertebral cross-sectional area and positively with intervertebral disc height, independent of sex, age and body mass index. We provide new evidence that girls and boys with adolescent idiopathic scoliosis have significantly smaller vertebral cross-sectional area and taller intervertebral disc heights - two major structural determinants that influence trunk flexibility. With appropriate validation, these findings may have implications for the identification of children at the highest risk for developing scoliosis.

Lumbar scoliosis associated with spinal stenosis in idiopathic and degenerative cases.

PubMed

Le Huec, J C; Cogniet, A; Mazas, S; Faundez, A

2016-10-01

Degenerative de novo scoliosis is commonly present in older adult patients. The degenerative process including disc bulging, facet arthritis, and ligamentum flavum hypertrophy contributes to the appearance of symptoms of spinal stenosis. Idiopathic scoliosis has also degenerative changes that can lead to spinal stenosis. The aetiology, prevalence, biomechanics, classification, symptomatology, and treatment of idiopathic and degenerative lumbar scoliosis in association with spinal stenosis are reviewed. Review study is based on a review of pertinent but non-exhaustive literature of the last 20 years in PubMed in English language. Retrospective analysis of studies focused on all parameters concerning scoliosis associated with stenosis. Very few publications have focused specifically on idiopathic scoliosis and stenosis, and this was before the advent of modern segmental instrumentation. On the other hand, many papers were found for degenerative scoliosis and stenosis with treatment methods based on aetiology of spinal canal stenosis and analysis of global sagittal and frontal parameters. Satisfactory clinical results after operative treatment range from 83 to 96 % but with increased percentage of complications. Recent literature analysed the importance of stabilizing or not the spine after decompression in such situation knowing the increasing risk of instability after facet resection. No prospective randomized studies were found to support short instrumentation. Long instrumentation and fusion to prevent distabilization after decompression were always associated with higher complication rates. Imbalance patients with unsatisfactory compensation capacities were at risk of complications. Operative treatment using newly proposed classification system of lumbar scoliosis with associated canal stenosis is useful. Sagittal balance and rotatory dislocation are the main parameters to analyse to determine the length of fusion.

Prevalence of the HLA-DQB1*0602 allele in narcolepsy and idiopathic hypersomnia patients seen at a sleep disorders outpatient unit in São Paulo.

PubMed

Coelho, Fernando Morgadinho Santos; Pradella-Hallinan, Márcia; Predazzoli Neto, Mario; Bittencourt, Lia Rita Azeredo; Tufik, Sérgio

2009-03-01

Narcolepsy (with and without cataplexy) and idiopathic hypersomnia, are disorders with common features but with different HLA-DQB1*0602 allele prevalence. The present study describes the prevalence of HLA-DQB1*0602 allele in narcoleptics with and without cataplexy and in patients with idiopathic hypersomnia. Subjects comprised 68 patients who were diagnosed for narcolepsy or idiopathic hypersomnia and 23 healthy controls according to the International Classification of Sleep Disorders-2. Subjects comprised 43 patients with narcolepsy and cataplexy, 11 patients with narcolepsy but without cataplexy, 14 patients with idiopathic hypersomnia and 23 healthy controls. Genotyping of HLA-DQB1*0602 allele was performed for all subjects. The prevalence of the HLA-DQB1*0602 allele was increased in idiopathic hypersomnia and in narcoleptic patients with and without cataplexy when compared to healthy subjects (p = 0.04; p = 0.03 and p < 0.0001, respectively). This finding is in accordance with those of previous studies. The gold standard exam of narcolepsy with cataplexy is Hypocretin-1 dosage, but in patients without cataplexy and idiopathic hypersomnia, there are no specific diagnostic lab findings. The presence of the HLA-DQB1* 0602 allele may be important for the differential diagnosis of situations that resemble those sleep disorders such as secondary changes in sleep structure due to drugs' consumption.

Prediction of pulmonary hypertension in idiopathic pulmonary fibrosis☆

PubMed Central

Zisman, David A.; Ross, David J.; Belperio, John A.; Saggar, Rajan; Lynch, Joseph P.; Ardehali, Abbas; Karlamangla, Arun S.

2007-01-01

Summary Background Reliable, noninvasive approaches to the diagnosis of pulmonary hypertension in idiopathic pulmonary fibrosis are needed. We tested the hypothesis that the forced vital capacity to diffusing capacity ratio and room air resting pulse oximetry may be combined to predict mean pulmonary artery pressure (MPAP) in idiopathic pulmonary fibrosis. Methods Sixty-one idiopathic pulmonary fibrosis patients with available right-heart catheterization were studied. We regressed measured MPAP as a continuous variable on pulse oximetry (SpO2) and percent predicted forced vital capacity (FVC) to percent-predicted diffusing capacity ratio (% FVC/% DLco) in a multivariable linear regression model. Results Linear regression generated the following equation: MPAP = −11.9+0.272 × SpO2+0.0659 × (100−SpO2)2+3.06 × (% FVC/% DLco); adjusted R2 = 0.55, p<0.0001. The sensitivity, specificity, positive predictive and negative predictive value of model-predicted pulmonary hypertension were 71% (95% confidence interval (CI): 50–89%), 81% (95% CI: 68–92%), 71% (95% CI: 51–87%) and 81% (95% CI: 68–94%). Conclusions A pulmonary hypertension predictor based on room air resting pulse oximetry and FVC to diffusing capacity ratio has a relatively high negative predictive value. However, this model will require external validation before it can be used in clinical practice. PMID:17604151

The effect of myofascial release (MFR) on an adult with idiopathic scoliosis.

PubMed

LeBauer, Aaron; Brtalik, Robert; Stowe, Katherine

2008-10-01

The lack of evidence of conservative treatment has led to an interest in exploring myofascial release (MFR) as an effective means of controlling spinal curvature progression in adolescents with idiopathic scoliosis. The purpose of this case study is to measure the effects of MFR as a manual therapy technique in the treatment of idiopathic scoliosis. One 18-year-old female subject underwent 6 weeks of MFR treatment consisting of two sessions each week for 60min. Pain, pulmonary function, and quality of life were measured. Six goniometric measurements were taken encompassing trunk flexion, extension, and rotation. The subject improved with pain levels, trunk rotation, posture, quality of life, and pulmonary function. The results suggest further investigation is needed using MFR, as an effective manual therapy treatment for idiopathic scoliosis.

Idiopathic granulomatous mastitis: a case report of breast abscess.

PubMed

Olsen, Molly L; Dilaveri, Christina A

2011-08-04

Idiopathic granulomatous mastitis (IGM) is an uncommon breast disease often mistaken for breast infection or abscess. We present a case of IGM diagnosed after prolonged ineffective treatment of presumed infectious mastitis with abscess. Once the diagnosis was made with biopsy and further evaluation to exclude other causes of granulomatous disease, sinus tract debridement and closure by secondary intent resulted in resolution of symptoms in our patient. Many cases of IGM require immunosuppression with steroids, methotrexate or extensive surgery. To prevent morbidity, IGM should be considered in the differential diagnosis when presumed infectious mastitis with breast abscess does not respond to usual treatment.

Idiopathic Mast Cell Activation Syndrome With Associated Salicylate Intolerance.

PubMed

Rechenauer, Tobias; Raithel, Martin; Götze, Thomas; Siebenlist, Gregor; Rückel, Aline; Baenkler, Hanns-Wolf; Hartmann, Arndt; Haller, Florian; Hoerning, André

2018-01-01

Idiopathic mast cell activation syndrome can be a rare cause for chronic abdominal pain in children. It remains a diagnosis by exclusion that can be particularly challenging due to the vast variety of possible clinical manifestations. We present a 13-year-old boy who suffered from a multitude of unspecific complaints over a long period of time. In this case, an assessment of mast cell-derived metabolites and immunohistochemical analysis of bioptic specimen was worthwhile. After ruling out, primary (oncologic) and secondary causes for mast cell activation, pharmacologic treatment adapted to the patient's salicylate intolerance resulted in a major relief of symptoms.

Long-Term Outcomes in Idiopathic Membranous Nephropathy Using a Restrictive Treatment Strategy

PubMed Central

van Dijk, Peter R.; Hofstra, Julia M.; Wetzels, Jack F.M.

2014-01-01

Recently published Kidney Disease Improving Global Outcomes (KDIGO) guidelines recommend limiting the use of immunosuppressive drugs in idiopathic membranous nephropathy to patients at the highest risk of kidney failure. However, recommendations are based on natural history rather than direct assessment of a restrictive treatment strategy. Here, we describe the long-term outcomes of treating a large cohort of patients with idiopathic membranous nephropathy according to a restrictive treatment policy. We analyzed data for 254 patients who visited our outpatient clinic between 1995 and 2009. All patients were treated with angiotensin-converting enzyme inhibitors or angiotensin-receptor blockers. Immunosuppressive therapy was recommended in cases of deteriorating renal function or untreatable nephrotic syndrome. Primary outcomes for the present study were renal replacement therapy and death. Secondary outcomes included adverse events during follow-up and remission of proteinuria. In total, 124 patients (49%) received immunosuppressive therapy, which predominantly consisted of cyclophosphamide combined with steroids. Ten-year cumulative incidence rates were 3% for renal replacement therapy and 10% for death. Partial remission rates were 39%, 70%, and 83% after 1, 3, and 5 years, respectively; complete remission rates were 5%, 24%, and 38% at 1, 3, and 5 years, respectively. A serious adverse event occurred in 23% of all patients. The most notable complications were infections (17%), leukopenia (18%), cardiovascular events (13%), and malignancies (8%). In conclusion, the use of a restrictive treatment strategy in this cohort of patients with idiopathic membranous nephropathy yielded favorable outcomes while limiting the number of patients exposed to toxic drugs. These results support current KDIGO guidelines. PMID:24029426

Treatment of Idiopathic FSGS with Adrenocorticotropic Hormone Gel

PubMed Central

Bomback, Andrew S.; Mehta, Kshama; Canetta, Pietro A.; Rao, Maya K.; Appel, Gerald B.; Radhakrishnan, Jai; Lafayette, Richard A.

2013-01-01

Summary Background and objectives Adrenocorticotropic hormone (ACTH) has shown efficacy as primary and secondary therapy for nephrotic syndrome due to membranous nephropathy. The data on using ACTH to treat idiopathic FSGS are limited. This report describes our experience using ACTH for nephrotic syndrome due to idiopathic FSGS in the United States. Design, setting, participants, & measurements Twenty-four patients with nephrotic syndrome from idiopathic FSGS were treated with ACTH gel at two academic medical centers between 2009 and 2012, either as part of investigator-initiated pilot studies (n=16) or by prescription for treatment-resistant FSGS (n=8). The primary outcome was remission of proteinuria. The median dose of ACTH was 80 units injected subcutaneously twice weekly. Treatment durations were not uniform. Results Twenty-two patients had received immunosuppression (mean, 2.2 medications) before ACTH therapy. Six patients had steroid-dependent and 15 had steroid-resistant FSGS. At the time of ACTH initiation, the median serum creatinine (interquartile range) was 2.0 (1.1–2.7) mg/dl, estimated GFR was 36 (28–78) ml/min per 1.73 m2, and urine protein-to-creatinine ratio was 4595 (2200–8020) mg/g. At the end of ACTH therapy, 7 of 24 patients (29%) experienced remission (n=2 complete remissions, n=5 partial remissions). All remitters had steroid-resistant (n=5) or steroid-dependent (n=2) FSGS. Two responders relapsed during the follow-up period (mean ± SD, 70±31 weeks). Adverse events occurred in 21 of 24 patients, including one episode of new-onset diabetes that resolved after stopping ACTH and two episodes of AKI. Conclusions Response to ACTH treatment among steroid-resistant or steroid-dependent patients with FSGS is low, but ACTH gel may be a viable treatment option for some patients with resistant nephrotic syndrome due to idiopathic FSGS. Further research is necessary to determine which patients will respond to therapy. PMID:24009220

Telltale teeth: Idiopathic Hypergonadotropic Hypogonadism.

PubMed

Lele, G S; Lakade, L S

2014-01-01

The detection of any atypical extraoral or intraoral features warrants a thorough investigation, even if the patient is asymptomatic or unaware of these. At times, dental findings help in the diagnosis of an underlying systemic problem. These findings may or may not be associated with any syndrome. Thus, thorough examination and exhaustive investigations should be carried out for every atypical finding to ensure optimal oral and general health for the patient. This is a case report of seventeen year old male who presented with peculiar/atypical dentition which 'told the tale' and led to the diagnosis of underlying endocrinological problem about which the parents were totally unaware. The patient was short with central obesity and microcephaly. Intraorally, there was presence of thirty six microdonts. Consultation with pediatrician and endocrinologist, and thorough investigations confirmed the condition to be of 'Idiopathic Hypergonadotropic Hypogonadism'. The patient underwent not only oral rehabilitation, but also timely consultation and treatment from a pediatrician and an endocrinologist.

Effect of acid suppression therapy on gastroesophageal reflux and cough in idiopathic pulmonary fibrosis: an intervention study.

PubMed

Kilduff, Claire E; Counter, Melanie J; Thomas, Gareth A; Harrison, Nicholas K; Hope-Gill, Benjamin D

2014-01-01

Chronic cough affects more than 70 percent of patients with Idiopathic Pulmonary Fibrosis and causes significant morbidity. Gastroesophageal reflux is the cause of some cases of chronic cough; and also has a postulated role in the aetiology of Idiopathic Pulmonary Fibrosis. A high prevalence of acid; and more recently non-acid, reflux has been observed in Idiopathic Pulmonary Fibrosis cohorts. Therefore, gastroesophageal reflux may be implicated in the pathogenesis of cough in Idiopathic Pulmonary Fibrosis. Eighteen subjects with Idiopathic Pulmonary Fibrosis underwent 24-hour oesophageal impedance and cough count monitoring after the careful exclusion of causes of chronic cough other than gastroesophageal reflux. All 18 were then treated with high dose acid suppression therapies. Fourteen subjects underwent repeat 24-hour oesophageal impedance and cough count monitoring after eight weeks. Total reflux and acid reflux frequencies were within the normal range in the majority of this cohort. The frequencies of non-acid and proximal reflux events were above the normal range. Following high dose acid suppression therapy there was a significant decrease in the number of acid reflux events (p = 0.02), but an increase in the number of non-acid reflux events (p = 0.01). There was no change in cough frequency (p = 0.70). This study confirms that non-acid reflux is prevalent; and that proximal oesophageal reflux occurs in the majority, of subjects with Idiopathic Pulmonary Fibrosis. It is the first study to investigate the effect of acid suppression therapy on gastroesophageal reflux and cough in patients with Idiopathic Pulmonary Fibrosis. The observation that cough frequency does not improve despite verifiable reductions in oesophageal acid exposure challenges the role of acid reflux in Idiopathic Pulmonary Fibrosis associated cough. The finding that non-acid reflux is increased following the use of acid suppression therapies cautions against the widespread use

Effect of acid suppression therapy on gastroesophageal reflux and cough in idiopathic pulmonary fibrosis: an intervention study

PubMed Central

2014-01-01

Background Chronic cough affects more than 70 percent of patients with Idiopathic Pulmonary Fibrosis and causes significant morbidity. Gastroesophageal reflux is the cause of some cases of chronic cough; and also has a postulated role in the aetiology of Idiopathic Pulmonary Fibrosis. A high prevalence of acid; and more recently non-acid, reflux has been observed in Idiopathic Pulmonary Fibrosis cohorts. Therefore, gastroesophageal reflux may be implicated in the pathogenesis of cough in Idiopathic Pulmonary Fibrosis. Methods Eighteen subjects with Idiopathic Pulmonary Fibrosis underwent 24-hour oesophageal impedance and cough count monitoring after the careful exclusion of causes of chronic cough other than gastroesophageal reflux. All 18 were then treated with high dose acid suppression therapies. Fourteen subjects underwent repeat 24-hour oesophageal impedance and cough count monitoring after eight weeks. Results Total reflux and acid reflux frequencies were within the normal range in the majority of this cohort. The frequencies of non-acid and proximal reflux events were above the normal range. Following high dose acid suppression therapy there was a significant decrease in the number of acid reflux events (p = 0.02), but an increase in the number of non-acid reflux events (p = 0.01). There was no change in cough frequency (p = 0.70). Conclusions This study confirms that non-acid reflux is prevalent; and that proximal oesophageal reflux occurs in the majority, of subjects with Idiopathic Pulmonary Fibrosis. It is the first study to investigate the effect of acid suppression therapy on gastroesophageal reflux and cough in patients with Idiopathic Pulmonary Fibrosis. The observation that cough frequency does not improve despite verifiable reductions in oesophageal acid exposure challenges the role of acid reflux in Idiopathic Pulmonary Fibrosis associated cough. The finding that non-acid reflux is increased following the use of acid suppression

Baseline factors predictive of patient satisfaction with sacral neuromodulation for idiopathic fecal incontinence.

PubMed

Duelund-Jakobsen, Jakob; van Wunnik, Bart; Buntzen, Steen; Lundby, Lilli; Laurberg, Søren; Baeten, Cor

2014-07-01

Sacral neuromodulation (SNM) is an established treatment for fecal incontinence (FI). A recent study from our group found that the relationship between patient satisfaction and clinical outcome is complex and does not match the traditional used success criteria. Therefore, the ability to predict patient satisfaction must be given priority. The aim of the present study is to identify baseline factors predictive of patient satisfaction, with SNM, for idiopathic FI. We analyzed data from patients treated with SNM for idiopathic FI in Aarhus, Denmark, and Maastricht, The Netherlands. A questionnaire considering self-reported satisfaction was mailed to these patients and compared to baseline characteristics. Logistic regression was used to determine the predictive value of baseline demographic and diagnostic variables. In total, 131 patients were included in the analysis. Patient satisfaction with the current treatment result was reported in 75 patients. Fifty-six patients were dissatisfied with SNM treatment, after median 46 months (range 11-122) with permanent implantation. Pudendal nerve terminal motor latency (PNTML) was the solely identified predictor for long-term patient satisfaction. A subgroup univariate-logistic regression analysis showed that PNTML ≤ 2.3 ms at the side of lead implantation was a statistically significant predictor for patient satisfaction (odds ratio (OR) 2.3, 95% confidence interval (CI) 1.01-5.24, p = 0.048). Baseline PNTML measurement may be predictive of long-term satisfaction with SNM therapy for idiopathic FI. Further studies are needed to confirm this result.

Circulating irisin and chemerin levels as predictors of seizure control in children with idiopathic epilepsy.

PubMed

Elhady, Marwa; Youness, Eman R; Gafar, Heba S; Abdel Aziz, Ali; Mostafa, Rehab S I

2018-06-02

Irisin and chemerin peptides expression are triggered by hypoxia and involved in activation of inflammatory cascades in various organs including the brain; however, their role in epilepsy is not fully illustrated. This study aims to explore the predictive role of irisin and chemerin for seizure control in children with idiopathic epilepsy. This cross-sectional comparative study included 50 children with idiopathic epilepsy; 25 of them had controlled seizures over the previous 6 months and 30 age- and sex-matched healthy children as controls. Epilepsy characteristics, seizure severity Chalfont score, and response to medications were assessed in relation to serum irisin and chemerin levels. In comparison to healthy controls, serum chemerin and irisin levels were significantly higher in children with idiopathic epilepsy especially those with uncontrolled seizures. Serum chemerin and irisin levels had significant positive correlation with seizure severity Chalfont score and the duration of epilepsy. Elevated Chalfont score (OR 3.19), serum chemerin (OR 2.01), and irisin (OR 2.03) are predictors of uncontrolled seizures. Circulating chemerin and irisin have 80% and 76% sensitivity and 88% and 92% specificity at cutoff point > 191.38 ng/ml and > 151.2 ng/ml respectively for prediction of uncontrolled seizures in children with idiopathic epilepsy. Elevated circulating level of irisin and chemerin may predict poor seizure control in children with idiopathic epilepsy suggesting the role of hypoxia-triggered neuroinflammation in the pathogenesis of childhood idiopathic epilepsy.

Gastric mucin expression in Helicobacter pylori-related, nonsteroidal anti-inflammatory drug-related and idiopathic ulcers

PubMed Central

Boltin, Doron; Halpern, Marisa; Levi, Zohar; Vilkin, Alex; Morgenstern, Sara; Ho, Samuel B; Niv, Yaron

2012-01-01

AIM: To determine the pattern of secreted mucin expression in Helicobacter pylori (H. pylori)-related, nonsteroidal anti-inflammatory drug (NSAID)-related and idiopathic gastric ulcers. METHODS: We randomly selected 92 patients with H. pylori-associated (n = 30), NSAID-associated (n = 18), combined H. pylori and NSAID-associated gastric ulcers (n = 24), and patients with idiopathic gastric ulcers (n = 20). Immunohistochemistry for T-cell CD4/CD8, and for mucin 5AC (MUC5AC) and mucin 6 (MUC6), was performed on sections of the mucosa from the ulcer margin. Inflammation score was assessed according to the Sydney system. RESULTS: MUC5AC was expressed on the surface epithelium (98.9%) and neck glands (98.9%) with minimal expression in the deep glands (6.5%). MUC6 was strongly expressed in the deep glands (97.8%), variable in the neck glands (19.6%) and absent in the surface epithelium (0%). The pattern of mucin expression in idiopathic ulcer margins was not different from the expression in ulcers associated with H. pylori, NSAIDs, or combined H. pylori and NSAIDs. CD4/CD8 ratio was higher in H. pylori-positive patients (P = 0.009). Idiopathic ulcers are associated with hospitalized patients and have higher bleeding and mortality rates. CONCLUSION: Idiopathic ulcers have a unique clinical profile. Gastric mucin expression in idiopathic gastric ulcers is unchanged compared with H. pylori and/or NSAID-associated ulcers. PMID:22969235

Idiopathic bile acid malabsorption: qualitative and quantitative clinical features and response to cholestyramine.

PubMed

Sinha, L; Liston, R; Testa, H J; Moriarty, K J

1998-09-01

Idiopathic bile acid malabsorption is a poorly recognized cause of chronic diarrhoea. The SeHCAT (75Selenium HomotauroCholic Acid Test) can accurately diagnose this condition. To identify patients with idiopathic bile acid malabsorption, to describe their clinical features, both qualitatively and quantitatively, and to assess the response to cholestyramine. Idiopathic bile acid malabsorption was considered in all patients complaining of chronic diarrhoea. They were included in the study if their SeHCATs were positive (< 15% retention) and secondary causes of bile acid malabsorption were excluded. The response to therapy with cholestyramine was assessed. Nine patients were diagnosed with idiopathic bile acid malabsorption (median SeHCAT retention 8%, range 3-12.6). Their median daily faecal weight was 285 g (range 85-676) and median faecal fat output was 17 mmol/24 h (range 8.3-38.8). Six patients had an immediate response to cholestyramine. There was a marked reduction in stool frequency (median stool frequency pre-treatment 5/day vs. 2/day post-treatment, P = 0.03). Five patients had large volume diarrhoea (faecal weight > 200 g/day) and three had steatorrhoea. Idiopathic bile acid malabsorption, once suspected, especially by documenting true 'large volume' watery diarrhoea or steatorrhoea, is easily diagnosed and response to therapy is often very good. There is often a previous history of gastrointestinal infection and this condition should be considered in patients with chronic diarrhoea of undetermined origin, especially before they are labelled as having irritable bowel syndrome.

The Myositis Autoantibody Phenotypes of the Juvenile Idiopathic Inflammatory Myopathies

PubMed Central

Shah, Mona; Mamyrova, Gulnara; Huber, Adam M.; Rice, Madeline Murguia; Targoff, Ira N.; Miller, Frederick W.

2013-01-01

Abstract 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

Impact of Glycemic Control on Morbidity and Mortality in Adult Idiopathic Scoliosis Patients Undergoing Spinal Fusion.

PubMed

Shin, John I; Phan, Kevin; Kothari, Parth; Kim, Jun S; Guzman, Javier Z; Cho, Samuel K

2017-08-01

thrombosis, and mortality. The present study provides valuable data for better informed consent for patients with diabetes considering surgery for idiopathic scoliosis. Level III.

Idiopathic Paroxysmal Ventricular Tachycardia in Infants and Children

ERIC Educational Resources Information Center

Hernandez, Antonio; And Others

1975-01-01

Laboratory tests including blood count serum electrolyte measures, and electroencephalograms were performed on seven children ages 1 day to 18 years with recurrent attacks of rapid heart action known as idiopathic paroxysmal ventricular tachycardia. (CL)

Tie2 Expressing Monocytes in the Spleen of Patients with Primary Myelofibrosis

PubMed Central

Campanelli, Rita; Fois, Gabriela; Catarsi, Paolo; Poletto, Valentina; Villani, Laura; Erba, Benedetta Gaia; Maddaluno, Luigi; Jemos, Basilio; Salmoiraghi, Silvia; Guglielmelli, Paola; Abbonante, Vittorio; Di Buduo, Christian Andrea; Balduini, Alessandra; Iurlo, Alessandra; Barosi, Giovanni; Rosti, Vittorio; Massa, Margherita

2016-01-01

Primary myelofibrosis (PMF) is a Philadelphia-negative (Ph−) myeloproliferative disorder, showing abnormal CD34+ progenitor cell trafficking, splenomegaly, marrow fibrosis leading to extensive extramedullary haematopoiesis, and abnormal neoangiogenesis in either the bone marrow or the spleen. Monocytes expressing the angiopoietin-2 receptor (Tie2) have been shown to support abnormal angiogenic processes in solid tumors through a paracrine action that takes place in proximity to the vessels. In this study we investigated the frequency of Tie2 expressing monocytes in the spleen tissue samples of patients with PMF, and healthy subjects (CTRLs), and evaluated their possible role in favouring spleen angiogenesis. We show by confocal microscopy that in the spleen tissue of patients with PMF, but not of CTRLs, the most of the CD14+ cells are Tie2+ and are close to vessels; by flow cytometry, we found that Tie2 expressing monocytes were Tie2+CD14lowCD16brightCDL62−CCR2− (TEMs) and their frequency was higher (p = 0.008) in spleen tissue-derived mononuclear cells (MNCs) of patients with PMF than in spleen tissue-derived MNCs from CTRLs undergoing splenectomy for abdominal trauma. By in vitro angiogenesis assay we evidenced that conditioned medium of immunomagnetically selected spleen tissue derived CD14+ cells of patients with PMF induced a denser tube like net than that of CTRLs; in addition, CD14+Tie2+ cells sorted from spleen tissue derived single cell suspension of patients with PMF show a higher expression of genes involved in angiogenesis than that found in CTRLs. Our results document the enrichment of Tie2+ monocytes expressing angiogenic genes in the spleen of patients with PMF, suggesting a role for these cells in starting/maintaining the pathological angiogenesis in this organ. PMID:27281335

Diagnosis of narcolepsy and idiopathic hypersomnia. An update based on the International classification of sleep disorders, 2nd edition.

PubMed

Billiard, Michel

2007-10-01

Defining the precise nosological limits of narcolepsy and idiopathic hypersomnia is an ongoing process dating back to the first description of the two conditions. The most recent step forward has been done within the preparation of the second edition of the "International classification of sleep disorders" published in June 2005. Appointed by Dr Emmanuel Mignot, the Task Force on "Hypersomnias of central origin, not due to a circadian rhythm sleep disorder, sleep related breathing disorder, or other causes of disturbed nocturnal sleep" thoroughly revisited the nosology of narcolepsy and of idiopathic hypersomnia. Narcolepsy is now distinguished into three different entities, narcolepsy with cataplexy, narcolepsy without cataplexy and narcolepsy due to medical condition, and idiopathic hypersomnia into two entities, idiopathic hypersomnia with long sleep time and idiopathic hypersomnia without long sleep time. Nevertheless there are still a number of pending issues. What are the limits of narcolepsy without cataplexy? Is there a continuum in the pathophysiology of narcolepsy with and without cataplexy? Should sporadic and familial forms of narcolepsy with cataplexy appear as subgroups in the classification? Are idiopathic hypersomnia with long sleep time and idiopathic hypersomnia without long sleep time, two forms of the same condition or two different conditions? Is there a pathophysiological relationship between narcolepsy without cataplexy and idiopathic hypersomnia without long sleep time?

Idiopathic Inflammatory Myopathies

PubMed Central

Barohn, Richard J.; Amato, Anthony

2014-01-01

The idiopathic inflammatory myopathies (IIM) consist of rare heterogenous autoimmune disorders that present with marked proximal and symmetric muscle weakness, except for distal and asymmetric weakness in inclusion body myositis (IBM). Besides frequent creatine kinase (CK) elevation, the electromyogram confirms the presence of an irritative myopathy. Extramuscular involvement affects a significant number of cases with interstitial lung disease (ILD), cutaneous in dermatomyositis (DM), systemic or joint manifestations and increased risk of malignancy especially in DM. Myositis specific autoantibodies influence phenotype of the IIM. Jo-1 antibodies are frequently associated with ILD and the newly described HMG-CoA reductase antibodies are characteristic of autoimmune necrotizing myopathy (NM). Muscle pathology ranges from inflammatory exudates of variable distribution, to intact muscle fiber invasion, necrosis, phagocytosis and in the case of IBM rimmed vacuoles and protein deposits. Despite many similarities, the IIM are a quite heterogeneous from the histopathological and pathogenetic standpoints in addition to some clinical and treatment-response difference. The field has witnessed significant advances in our understanding of pathophysiology and treatment of these rare disorders. In this review, we focus on DM, polymyositis (PM) and NM and examine current and promising therapies. The reader interested in more details on IBM is referred to the corresponding chapter in this issue. PMID:25037081

Inhibition of ileal bile acid transporter: An emerging therapeutic strategy for chronic idiopathic constipation.

PubMed

Mosińska, Paula; Fichna, Jakub; Storr, Martin

2015-06-28

Chronic idiopathic constipation is a common disorder of the gastrointestinal tract that encompasses a wide profile of symptoms. Current treatment options for chronic idiopathic constipation are of limited value; therefore, a novel strategy is necessary with an increased effectiveness and safety. Recently, the inhibition of the ileal bile acid transporter has become a promising target for constipation-associated diseases. Enhanced delivery of bile acids into the colon achieves an accelerated colonic transit, increased stool frequency, and relief of constipation-related symptoms. This article provides insight into the mechanism of action of ileal bile acid transporter inhibitors and discusses their potential clinical use for pharmacotherapy of constipation in chronic idiopathic constipation.

Is There a Rationale behind Pharmacotherapy in Idiopathic Gynecomastia?

PubMed

Kasielska-Trojan, Anna; Danilewicz, Marian; Antoszewski, Bogusław

2018-05-17

The aim of this research was to analyze digit ratio in relation to estrogen receptor (ER) and progesterone receptor (PR) expression and to verify digit ratio (2D: 4D) as a marker of ER and PR overexpression in the male breast. This study included 35 patients who underwent breast reduction due to the idiopathic form of gynecomastia. The average age of the studied individuals was 25.7 years (SD = 7.8). ER and PR expression was detected in breasts, and digit ratios were calculated in patients with idiopathic gynecomastia. ER expression did not correlate with the right (p = 0.51) and left 2D: 4D (p = 0.97). Also, there was no correlation between PR expression and 2D: 4D. A lack of correlation between these variables may result from the fact that the analyzed group of men with idiopathic gynecomastia was small in number, but at the same time, it appeared to be homogenous in these aspects (positive ER and/or PR expression and high digit ratio). High digit ratio in men with gynecomastia may tend to be a marker of overexpression of ER and PR. This may justify an early use of tamoxifen in men with gynecomastia and a high digit ratio. © 2018 S. Karger AG, Basel.

Prevalence of dyslipidemia among Iranian patients with idiopathic tinnitus

PubMed Central

M-Shirazi, Minoo; Farhadi, Mohammad; Jalessi, Maryam; Kamrava, Seyyed-Kamran; Behzadi, Ashkan Heshmatzade; Arami, Behin

2011-01-01

BACKGROUND: Tinnitus is a sense of sound perception in absence of an external source which can affect life quality. Different conditions may lead to tinnitus including metabolic disorders such as dyslipidemia. The aim of this study was to investigate the prevalence of dyslipidemia among Iranian patients with idiopathic tinnitus. METHODS: This was a cross-sectional study in which prevalence of dyslipidemia in fasting state and its subclasses were assessed in 1043 tinnitus patients aged 12-90 years who referred to Rasool Akram Hospital, Tehran, Iran, 2006-2009. Data was summarized by SPSS software version 17 and one sample t-test and Chi-Square test were applied to analyze the results. P less than 0.05 were considered significant. RESULTS: The most prevalent type of dyslipidemia was hypercholesterolemia with the frequency of 14.4% followed by low HDL-C with the frequency of 12.8%. Mean of total cholesterol, HDL-C, LDL-C and triglyceride levels in all patients were not greater than general population. CONCLUSIONS: Based on the results of the present study, there might be no need to check the serum lipid profile in tinnitus patients. We recommend further studies to assess both fasting and postprandial serum lipid profile in patients with idiopathic tinnitus. Simultaneous investigation of their dietary intake is also suggested. PMID:22279456

The Clinical Phenotype of Idiopathic Rapid Eye Movement Sleep Behavior Disorder at Presentation: A Study in 203 Consecutive Patients.

PubMed

Fernández-Arcos, Ana; Iranzo, Alex; Serradell, Mónica; Gaig, Carles; Santamaria, Joan

2016-01-01

To describe the clinical phenotype of idiopathic rapid eye movement (REM) sleep behavior disorder (IRBD) at presentation in a sleep center. Clinical history review of 203 consecutive patients with IRBD identified between 1990 and 2014. IRBD was diagnosed by clinical history plus video-polysomnographic demonstration of REM sleep with increased electromyographic activity linked to abnormal behaviors. Patients were 80% men with median age at IRBD diagnosis of 68 y (range, 50-85 y). In addition to the already known clinical picture of IRBD, other important features were apparent: 44% of the patients were not aware of their dream-enactment behaviors and 70% reported good sleep quality. In most of these cases bed partners were essential to convince patients to seek medical help. In 11% IRBD was elicited only after specific questioning when patients consulted for other reasons. Seven percent did not recall unpleasant dreams. Leaving the bed occurred occasionally in 24% of subjects in whom dementia with Lewy bodies often developed eventually. For the correct diagnosis of IRBD, video-polysomnography had to be repeated in 16% because of insufficient REM sleep or electromyographic artifacts from coexistent apneas. Some subjects with comorbid obstructive sleep apnea reported partial improvement of RBD symptoms following continuous positive airway pressure therapy. Lack of therapy with clonazepam resulted in an increased risk of sleep related injuries. Synucleinopathy was frequently diagnosed, even in patients with mild severity or uncommon IRBD presentations (e.g., patients who reported sleeping well, onset triggered by a life event, nocturnal ambulation) indicating that the development of a neurodegenerative disease is independent of the clinical presentation of IRBD. We report the largest IRBD cohort observed in a single center to date and highlight frequent features that were not reported or not sufficiently emphasized in previous publications. Physicians should be aware of

Adults With Idiopathic Scoliosis Diagnosed at Youth Experience Similar Physical Activity and Fracture Rate as Controls.

PubMed

Diarbakerli, Elias; Grauers, Anna; Danielsson, Aina; Gerdhem, Paul

2017-04-01

Cross-sectional. To describe physical activity level and fracture rates in adults with idiopathic scoliosis, diagnosed before maturity, and to compare with a control group. A previous study found a lower level of sporting activities in adults treated for idiopathic scoliosis compared with controls. Other studies have shown a lower bone mass in adults with idiopathic scoliosis compared with controls. One thousand two hundred seventy-eight adults (aged 18-71 yr) with idiopathic scoliosis and 214 controls (aged 18-70 yr) were included and answered the International Physical Activity Questionnaire - Short Form (IPAQ-SF) and questions about previous fractures. The three scoliosis treatment groups (untreated n = 360, brace n = 460, and surgically treated n = 458) were compared. Furthermore, a comparison based on onset (juvenile n = 169 or adolescent n = 976) was performed. Achieved weekly moderate activity level and metabolic equivalent task (MET) minutes/week were assessed for patients and controls. Statistical comparisons were made with analysis of covariance with adjustments for age, body mass index, and sex. The proportion achieving weekly moderate activity level was 962 out of 1278 for individuals with idiopathic scoliosis (75%) and 157 out of 214 (73%) for controls (P = 0.40). The scoliosis patients reported 2016 MET-minutes/week (median value) and the controls 2456 (P = 0.06). Fracture rates did not differ (P = 0.72). Fewer surgically treated individuals achieved moderate activity level (P = 0.046) compared with the untreated and the previously braced individuals. No difference was seen regarding MET-minutes/week (P = 0.86). No differences were seen between individuals with a juvenile onset compared with individuals with an adolescent onset (all P ≥ 0.05). Adults with idiopathic scoliosis have similar physical activity level and do not sustain more fractures compared with controls. Adults with surgically treated

The influence of thermoplastic thoraco lumbo sacral orthoses on standing balance in subjects with idiopathic scoliosis.

PubMed

Khanal, Minoo; Arazpour, Mokhtar; Bahramizadeh, Mahmood; Samadian, Mohammad; Hutchins, Stephen W; Kashani, Reza Vahab; Mardani, Mohammad A; Tari, Hossein Vahid; Aboutorabi, Atefeh; Curran, Sarah; Sadeghi, Heidar

2016-08-01

Idiopathic scoliosis patients have postural equilibrium problems. The objective of this study was to assess postural control in subjects with idiopathic scoliosis following a 4-month intervention in an unbraced position. Quasi-experimental. Eight healthy girls and eight girls with idiopathic scoliosis took part. A Kistler force platform was used with a frequency of 100 Hz for recording data. The center of pressure was recorded in different positions out of brace for scoliosis and healthy subjects. Test conditions were single limb and double limb stance, with eyes open and closed, and foam and rigid surfaces. The data reflected a weak balance of idiopathic scoliosis subjects compared to healthy subjects. After 1 and 4 months of wearing the brace, center of pressure and center of gravity sway increased in the majority of the tests, although there were no significant differences in any of the test conditions (p > 0.05). While the center of pressure sway in medio-lateral direction decreased after 4 months of wearing a brace, in other variables center of pressure and center of gravity sway increased. Idiopathic scoliosis patients have weak balance in comparison to healthy subjects. In addition, following a period of 4 months of wearing a brace, balance parameters in the scoliosis subjects did not improve. The results show that we need more follow-up of orthoses wearing in idiopathic scoliosis subjects and suggest more studies at least 1-year follow-up to identify the efficiency of brace wear on balance. Scoliosis can alter postural stability and balance performance during quiet standing. Spinal deformity can alter a subject's ability to compensate for postural changes and cause gait deviations. This study investigated balance differences between the healthy and idiopathic scoliosis patients and the results of thoraco lumbo sacral orthosis brace wear. It might provide some new insight into the conservative treatment of idiopathic scoliosis patients for

Idiopathic Inflammatory Myopathies: Clinical Approach and Management

PubMed Central

Malik, Asma; Hayat, Ghazala; Kalia, Junaid S.; Guzman, Miguel A.

2016-01-01

Idiopathic inflammatory myopathies (IIM) are a group of chronic, autoimmune conditions affecting primarily the proximal muscles. The most common types are dermatomyositis (DM), polymyositis (PM), necrotizing autoimmune myopathy (NAM), and sporadic inclusion body myositis (sIBM). Patients typically present with sub-acute to chronic onset of proximal weakness manifested by difficulty with rising from a chair, climbing stairs, lifting objects, and combing hair. They are uniquely identified by their clinical presentation consisting of muscular and extramuscular manifestations. Laboratory investigations, including increased serum creatine kinase (CK) and myositis specific antibodies (MSA) may help in differentiating clinical phenotype and to confirm the diagnosis. However, muscle biopsy remains the gold standard for diagnosis. These disorders are potentially treatable with proper diagnosis and initiation of therapy. Goals of treatment are to eliminate inflammation, restore muscle performance, reduce morbidity, and improve quality of life. This review aims to provide a basic diagnostic approach to patients with suspected IIM, summarize current therapeutic strategies, and provide an insight into future prospective therapies. PMID:27242652

A phase 3 trial of pirfenidone in patients with idiopathic pulmonary fibrosis.

PubMed

King, Talmadge E; Bradford, Williamson Z; Castro-Bernardini, Socorro; Fagan, Elizabeth A; Glaspole, Ian; Glassberg, Marilyn K; Gorina, Eduard; Hopkins, Peter M; Kardatzke, David; Lancaster, Lisa; Lederer, David J; Nathan, Steven D; Pereira, Carlos A; Sahn, Steven A; Sussman, Robert; Swigris, Jeffrey J; Noble, Paul W

2014-05-29

In two of three phase 3 trials, pirfenidone, an oral antifibrotic therapy, reduced disease progression, as measured by the decline in forced vital capacity (FVC) or vital capacity, in patients with idiopathic pulmonary fibrosis; in the third trial, this end point was not achieved. We sought to confirm the beneficial effect of pirfenidone on disease progression in such patients. In this phase 3 study, we randomly assigned 555 patients with idiopathic pulmonary fibrosis to receive either oral pirfenidone (2403 mg per day) or placebo for 52 weeks. The primary end point was the change in FVC or death at week 52. Secondary end points were the 6-minute walk distance, progression-free survival, dyspnea, and death from any cause or from idiopathic pulmonary fibrosis. In the pirfenidone group, as compared with the placebo group, there was a relative reduction of 47.9% in the proportion of patients who had an absolute decline of 10 percentage points or more in the percentage of the predicted FVC or who died; there was also a relative increase of 132.5% in the proportion of patients with no decline in FVC (P<0.001). Pirfenidone reduced the decline in the 6-minute walk distance (P=0.04) and improved progression-free survival (P<0.001). There was no significant between-group difference in dyspnea scores (P=0.16) or in rates of death from any cause (P=0.10) or from idiopathic pulmonary fibrosis (P=0.23). However, in a prespecified pooled analysis incorporating results from two previous phase 3 trials, the between-group difference favoring pirfenidone was significant for death from any cause (P=0.01) and from idiopathic pulmonary fibrosis (P=0.006). Gastrointestinal and skin-related adverse events were more common in the pirfenidone group than in the placebo group but rarely led to treatment discontinuation. Pirfenidone, as compared with placebo, reduced disease progression, as reflected by lung function, exercise tolerance, and progression-free survival, in patients with

Immunohistochemical detection of virus through its nuclear cytopathic effect in idiopathic interstitial pneumonia other than acute exacerbation

PubMed Central

dos Santos, G.C.; Parra, E.R.; Stegun, F.W.; Cirqueira, C.S.; Capelozzi, V.L.

2013-01-01

Idiopathic interstitial pneumonias include complex diseases that have a strong interaction between genetic makeup and environmental factors. However, in many cases, no infectious agent can be demonstrated, and these clinical diseases rapidly progress to death. Theoretically, idiopathic interstitial pneumonias could be caused by the Epstein-Barr virus, cytomegalovirus, adenovirus, hepatitis C virus, respiratory syncytial virus, and herpesvirus, which may be present in such small amounts or such configuration that routine histopathological analysis or viral culture techniques cannot detect them. To test the hypothesis that immunohistochemistry provides more accurate results than the mere histological demonstration of viral inclusions, this method was applied to 37 open lung biopsies obtained from patients with idiopathic interstitial pneumonias. As a result, immunohistochemistry detected measles virus and cytomegalovirus in diffuse alveolar damage-related histological patterns of acute exacerbation of idiopathic pulmonary fibrosis and nonspecific interstitial pneumonia in 38 and 10% of the cases, respectively. Alveolar epithelium infection by cytomegalovirus was observed in 25% of organizing pneumonia patterns. These findings were coincident with nuclear cytopathic effects but without demonstration of cytomegalovirus inclusions. These data indicate that diffuse alveolar damage-related cytomegalovirus or measles virus infections enhance lung injury, and a direct involvement of these viruses in diffuse alveolar damage-related histological patterns is likely. Immunohistochemistry was more sensitive than the histological demonstration of cytomegalovirus or measles virus inclusions. We concluded that all patients with diffuse alveolar damage-related histological patterns should be investigated for cytomegalovirus and measles virus using sensitive immunohistochemistry in conjunction with routine procedures. PMID:24270907

Idiopathic pulmonary fibrosis may be a disease of recurrent, tractional injury to the periphery of the aging lung: a unifying hypothesis regarding etiology and pathogenesis.

PubMed

Leslie, Kevin O

2012-06-01

Idiopathic pulmonary fibrosis is a progressive, fatal lung disease occurring in older individuals. Despite 50 years of accrued data about the disease, little progress has been made in slowing functional loss or in decreasing patient mortality. To present a novel hypothesis on the etiology and pathogenesis of idiopathic pulmonary fibrosis. Published data are reviewed regarding the epidemiology, clinical presentation, natural history, radiologic findings, and pathologic findings in patients with idiopathic pulmonary fibrosis. Patients with idiopathic pulmonary fibrosis may be predisposed genetically to tractional injury to the peripheral lung. The result is recurrent damage to the epithelial-mesenchymal interface, preferentially at the outer edges of the basilar lung lobules where tractional stress is high during inspiration, compliance is relatively low, and there is a greater tendency for alveolar collapse at end-expiration. A distinctive "reticular network of injury" (the fibroblast focus) forms, attended by a prolonged phase of wound repair (tear and slow repair). Discrete areas of alveolar collapse are observed in scar at the periphery of the lung lobules. The cycle repeats over many years resulting in progressive fibrous remodeling and replacement of the alveoli in a lobule by bronchiolar cysts surrounded by scar (honeycomb lung). Abnormalities in surfactant function are proposed as a potential mechanism of initial lung damage. Age of onset may be a function of a required threshold of environmental exposures (eg, cigarette smoking) or other comorbid injury to the aging lung. Evidence supporting this hypothesis is presented and potential mechanisms are discussed. A potential role for contributing cofactors is presented.

Brief Report: Sensorimotor Gating in Idiopathic Autism and Autism Associated with Fragile X Syndrome

ERIC Educational Resources Information Center

Yuhas, Jennifer; Cordeiro, Lisa; Tassone, Flora; Ballinger, Elizabeth; Schneider, Andrea; Long, James M.; Ornitz, Edward M.; Hessl, David

2011-01-01

Prepulse inhibition (PPI) may useful for exploring the proposed shared neurobiology between idiopathic autism and autism caused by FXS. We compared PPI in four groups: typically developing controls (n = 18), FXS and autism (FXS+A; n = 15), FXS without autism spectrum disorder (FXS-A; n = 17), and idiopathic autism (IA; n = 15). Relative to…

[Is it too late to start orthopedic treatment for idiopathic scoliosis with Risser scores of 4?].

PubMed

Avellanet, M; González Viejo, M-A; Sáenz, A; Hijós, M-E

2006-12-01

Orthopaedic treatment for idiopathic scoliosis in adolescence is indicated with a curve of > or =20 degrees and a Risser score< or =4, because progression of curve is low with Risser scores >4. We present the case of a young man with a left lumbar idiopathic scoliosis (T12-L4) with a curve of 10 degrees, which was stable from 13 years (Risser 0) to 16 years old (Risser 4). The scoliosis progressed quickly after a Risser score of 4 was achieved. The man had been wearing a lift on the left foot since he was 13, because of a leg length discrepancy, and had been under clinical and radiological monitoring. When the boy reached 17 years, the scoliosis rapidly progressed, to a curve of 22 degrees and a Risser score of >4. The scoliosis was effectively treated with a Boston brace. At 20 years, the Risser score was 5, and the left lumbar curve was 13 degrees after discontinuing the use of the brace. To our knowledge, no scientific reference indicates a time limit to orthopaedic treatment for idiopathic adolescent scoliosis. Despite the experts' recommendations, a brace might be indicated with a Risser score > or =4 to stop the progression of the curve.

Idiopathic Interstitial Pneumonia

PubMed Central

Flaherty, Kevin R.; Andrei, Adin-Cristian; King, Talmadge E.; Raghu, Ganesh; Colby, Thomas V.; Wells, Athol; Bassily, Nadir; Brown, Kevin; du Bois, Roland; Flint, Andrew; Gay, Steven E.; Gross, Barry H.; Kazerooni, Ella A.; Knapp, Robert; Louvar, Edmund; Lynch, David; Nicholson, Andrew G.; Quick, John; Thannickal, Victor J.; Travis, William D.; Vyskocil, James; Wadenstorer, Frazer A.; Wilt, Jeffrey; Toews, Galen B.; Murray, Susan; Martinez, Fernando J.

2007-01-01

Rationale: Treatment and prognoses of diffuse parenchymal lung diseases (DPLDs) varies by diagnosis. Obtaining a uniform diagnosis among observers is difficult. Objectives: Evaluate diagnostic agreement between academic and community-based physicians for patients with DPLDs, and determine if an interactive approach between clinicians, radiologists, and pathologists improved diagnostic agreement in community and academic centers. Methods: Retrospective review of 39 patients with DPLD. A total of 19 participants reviewed cases at 2 community locations and 1 academic location. Information from the history, physical examination, pulmonary function testing, high-resolution computed tomography, and surgical lung biopsy was collected. Data were presented in the same sequential fashion to three groups of physicians on separate days. Measurements and Main Results: Each observer's diagnosis was coded into one of eight categories. A κ statistic allowing for multiple raters was used to assess agreement in diagnosis. Interactions between clinicians, radiologists, and pathologists improved interobserver agreement at both community and academic sites; however, final agreement was better within academic centers (κ = 0.55–0.71) than within community centers (κ = 0.32–0.44). Clinically significant disagreement was present between academic and community-based physicians (κ = 0.11–0.56). Community physicians were more likely to assign a final diagnosis of idiopathic pulmonary fibrosis compared with academic physicians. Conclusions: Significant disagreement exists in the diagnosis of DPLD between physicians based in communities compared with those in academic centers. Wherever possible, patients should be referred to centers with expertise in diffuse parenchymal lung disorders to help clarify the diagnosis and provide suggestions regarding treatment options. PMID:17255566

Idiopathic Granulomatous Mastitis

PubMed Central

Al-Jarrah, Adil; Taranikanti, Varna; Lakhtakia, Ritu; Al-Jabri, Asma; Sawhney, Sukhpal

2013-01-01

Objectives: Idiopathic granulomatous mastitis (IGM) is a rare benign disorder of the breast whose aetiology is controversial, and is often misdiagnosed clinically and radiologically as mammary malignancy; as a result, it may be incorrectly treated. Although no standard treatment is available for this chronic disease, surgery with or without corticosteroids has been tried with controversial results. This study discusses the clinical presentation, diagnosis, management, recurrence, and follow-up data of IGM with a review of relevant literature. Methods: From 2009–2012, the Breast Unit at Sultan Qaboos University Hospital, Oman, conducted a clinical study on 20 patients with breast lumps. Their clinical and radiological examinations were indeterminate, and a diagnosis of granulomatous mastitis was established only by histopathology. Results: The majority of the patients were cases of unknown aetiology, who presented with a unilateral breast mass. A few patients had a mass with an abscess, along with axillary lymphadenopathy. A total of 4 patients were suspected of malignancy using radiology. In all patients, sterilised pus was sent for culture and sensitivity. Microscopy showed the characteristic pattern of granulomatous inflammation. All patients were treated with antibiotics for 6 weeks, and the mean follow-up period was 15 months (11–33 months). All patients had complete remission with no further recurrence. Conclusion: This single largest study of cases of IGM in Oman highlights the pitfalls in diagnosing this non-neoplastic disease of unknown aetiology and uncertain pathogenesis. It emphasises IGM’s excellent response to antibiotics, which is crucial, as IGM is a disease which is notoriously difficult and controversial to treat. PMID:23862029

Epithelial to mesenchymal transition-related proteins ZEB1, β-catenin, and β-tubulin-III in idiopathic pulmonary fibrosis.

PubMed

Chilosi, Marco; Caliò, Anna; Rossi, Andrea; Gilioli, Eliana; Pedica, Federica; Montagna, Licia; Pedron, Serena; Confalonieri, Marco; Doglioni, Claudio; Ziesche, Rolf; Grubinger, Markus; Mikulits, Wolfgang; Poletti, Venerino

2017-01-01

Epithelial to mesenchymal transition has been suggested as a relevant contributor to pulmonary fibrosis, but how and where this complex process is triggered in idiopathic pulmonary fibrosis is not fully understood. Beta-tubulin-III (Tubβ3), ZEB1, and β-catenin are partially under the negative control of miR-200, a family of micro-RNAs playing a major role in epithelial to mesenchymal transition, that are reduced in experimental lung fibrosis and idiopathic pulmonary fibrosis. We wonder whether in situ expression of these proteins is increased in idiopathic pulmonary fibrosis, to better understand the significance of miR-200 feedback loop and epithelial to mesenchymal transition. We investigated the immunohistochemical and immunofluorescent expression and precise location of ZEB1, Tubβ3, and β-catenin in tissue samples from 34 idiopathic pulmonary fibrosis cases and 21 controls (5 normal lungs and 16 other interstitial lung diseases). In 100% idiopathic pulmonary fibrosis samples, the three proteins were concurrently expressed in fibroblastic foci, as well in damaged epithelial cells overlying these lesions and in pericytes within neo-angiogenesis areas. These results were also confirmed by immunofluorescence assay. In controls the abnormal expression of the three proteins was absent or limited. This is the first study that relates concurrent expression of Tubβ3, ZEB1, and β-catenin to abnormal epithelial and myofibroblast differentiation in idiopathic pulmonary fibrosis, providing indirect but robust evidence of miR-200 deregulation and epithelial to mesenchymal transition activation in idiopathic pulmonary fibrosis. The abnormal expression and localization of these proteins in bronchiolar fibro-proliferative lesions are unique for idiopathic pulmonary fibrosis, and might represent a disease-specific marker in challenging lung biopsies.

Thrombospondin Type-1 Domain-Containing 7A in Idiopathic Membranous Nephropathy

PubMed Central

Meyer-Schwesinger, Catherine; Seitz-Polski, Barbara; Ma, Hong; Zahner, Gunther; Dolla, Guillaume; Hoxha, Elion; Helmchen, Udo; Dabert-Gay, Anne-Sophie; Debayle, Delphine; Merchant, Michael; Klein, Jon; Salant, David J.; Stahl, Rolf A.K.; Lambeau, Gérard

2014-01-01

BACKGROUND Idiopathic membranous nephropathy is an autoimmune disease. In approximately 70% of patients, it is associated with autoantibodies against the phospholipase A2 receptor 1 (PLA2R1). Antigenic targets in the remaining patients are unknown. METHODS Using Western blotting, we screened serum samples from patients with idiopathic membranous nephropathy, patients with other glomerular diseases, and healthy controls for antibodies against human native glomerular proteins. We partially purified a putative new antigen, identified this protein by means of mass spectrometry of digested peptides, and validated the results by analysis of recombinant protein expression, immunoprecipitation, and immunohistochemical analysis. RESULTS Serum samples from 6 of 44 patients in a European cohort and 9 of 110 patients in a Boston cohort with anti-PLA2R1–negative idiopathic membranous nephropathy recognized a glomerular protein that was 250 kD in size. None of the serum samples from the 74 patients with idiopathic membranous nephropathy who were sero-positive for anti-PLA2R1 antibodies, from the 76 patients with other glomerular diseases, and from the 44 healthy controls reacted against this antigen. Although this newly identified antigen is clearly different from PLA2R1, it shares some biochemical features, such as N-glycosylation, membranous location, and reactivity with serum only under nonreducing conditions. Mass spectrometry identified this antigen as thrombospondin type-1 domain-containing 7A (THSD7A). All reactive serum samples recognized recombinant THSD7A and immunoprecipitated THSD7A from glomerular lysates. Moreover, immunohistochemical analyses of biopsy samples from patients revealed localization of THSD7A to podocytes, and IgG eluted from one of these samples was specific for THSD7A. CONCLUSIONS In our cohort, 15 of 154 patients with idiopathic membranous nephropathy had circulating autoantibodies to THSD7A but not to PLA2R1, a finding that suggests a distinct

Idiopathic granulomatous mastitis: in search of a therapeutic paradigm.

PubMed

Wilson, Jason P; Massoll, Nicole; Marshall, Julia; Foss, Robin M; Copeland, Edward M; Grobmyer, Stephen R

2007-08-01

Idiopathic granulomatous mastitis, also known as idiopathic granulomatous lobular mastitis, is a benign breast lesion that represents both a diagnostic and therapeutic dilemma. We report two cases of granulomatous mastitis recently evaluated and managed at our institution. To better understand this rare disease, we analyzed treatment outcomes in reported cases of granulomatous mastitis. One hundred sixteen cases were subsequently analyzed. Primary management strategies included observation (n = 9), steroids (n = 29), partial mastectomy (n = 75), and mastectomy (n = 3). Success rates with each treatment were observation, 56 per cent; steroids, 42 per cent; partial mastectomy, 79 per cent; and mastectomy, 100 per cent. Based on this analysis, we propose a clinically useful algorithm for both workup and management of these challenging cases.

Precision Medicine: The New Frontier in Idiopathic Pulmonary Fibrosis.

PubMed

Brownell, Robert; Kaminski, Naftali; Woodruff, Prescott G; Bradford, Williamson Z; Richeldi, Luca; Martinez, Fernando J; Collard, Harold R

2016-06-01

Precision medicine is defined by the National Institute of Health's Precision Medicine Initiative Working Group as an approach to disease treatment that takes into account individual variability in genes, environment, and lifestyle. There has been increased interest in applying the concept of precision medicine to idiopathic pulmonary fibrosis, in particular to search for genetic and molecular biomarker-based profiles (so called endotypes) that identify mechanistically distinct disease subgroups. The relevance of precision medicine to idiopathic pulmonary fibrosis is yet to be established, but we believe that it holds great promise to provide targeted and highly effective therapies to patients. In this manuscript, we describe the field's nascent efforts in genetic/molecular endotype identification and how environmental and behavioral subgroups may also be relevant to disease management.

Extended Ponseti method for failed tenotomy in idiopathic clubfeet: a pilot study.

PubMed

Agarwal, Anil; Agrawal, Nargesh; Barik, Sitanshu; Gupta, Neeraj

2018-01-29

We evaluated the outcome of a new protocol of an extended Ponseti method in the management of idiopathic club foot with residual equinus following failed Achilles tenotomy. We also compared the failed with a successful tenotomy group to analyze the parameters for failure. The Ponseti technique-treated idiopathic club foot patients with failed percutaneous Achilles tenotomy (failure to achieve <15° dorsiflexion) were treated by continued stretching casts, with a weekly change for a further 3 weeks. Final dorsiflexion more than 15° if achieved with the above protocol was recorded as a success. Twenty-six (16%) patients with failed Achilles tenotomy and residual equinus out of a total of 161 patients with primary idiopathic club foot were tested with the protocol. Ten (38.5%) failed patients had bilateral foot involvement and 16 (61.5%) had unilateral foot involvement. A total of seven (26.9%) patients achieved the end point dorsiflexion of more than 15° in one further cast, 10 (38.5%) in two casts, and four (15.4%) in three casts, respectively. Overall success of the extended Ponseti protocol was achieved in 21/26 (80.8%) patients. The patient's age, precasting initial Pirani score, number of Ponseti casts, pretenotomy Pirani score, and pretenotomy ankle joint dorsiflexion were statistically different in the failed compared with the successful tenotomy group. The tested extended Ponseti protocol showed a success rate of 80.8% in salvaging failed tenotomy cases. The failed tenotomy group was relatively older at presentation, had high precasting and pretenotomy Pirani scores, received extra number of Ponseti casts, and less pretenotomy ankle joint dorsiflexion compared with successful feet.

Idiopathic granulomatous mastitis: a case report of breast abscess

PubMed Central

Olsen, Molly L; Dilaveri, Christina A

2011-01-01

Idiopathic granulomatous mastitis (IGM) is an uncommon breast disease often mistaken for breast infection or abscess. We present a case of IGM diagnosed after prolonged ineffective treatment of presumed infectious mastitis with abscess. Once the diagnosis was made with biopsy and further evaluation to exclude other causes of granulomatous disease, sinus tract debridement and closure by secondary intent resulted in resolution of symptoms in our patient. Many cases of IGM require immunosuppression with steroids, methotrexate or extensive surgery. To prevent morbidity, IGM should be considered in the differential diagnosis when presumed infectious mastitis with breast abscess does not respond to usual treatment. PMID:22687677

Possible association of FAS and FASLG polymorphisms with the risk of idiopathic azoospermia in southeast Turkey.

PubMed

Balkan, Mahmut; Atar, Murat; Erdal, Mehmet Emin; Rustemoğlu, Aydin; Yildiz, Ismail; Gunesacar, Ramazan; Hatipoğlu, Namık Kemal; Bodakçi, Mehmet Nuri; Ay, Ozlem Izci; Çevik, Kenan

2014-06-01

To investigate the association of the genetic variants of FAS/FASLG cell death pathway genes in male infertility, we genotyped the FAS -670A/G, -1377G/A, and FASLG -124A/G single-nucleotide polymorphisms (SNPs) by real-time polymerase chain reaction in 108 infertile men with idiopathic azoospermia and in 125 proven fertile controls. The distribution of genotypes and alleles for SNPs at FAS -1377G/A and FASLG -124A/G loci were determined not to be statistically different between the case and control groups. However, the genotype frequencies of SNPs, FAS -670AA and FAS -670AG, were found to be significantly different between the case and control groups. Whereas the FAS -670AA genotype might be regarded as a higher predisposition for idiopathic azoospermia, FAS -670AG could be interpreted to mean that this genotype provides protection against idiopathic azoospermia. The study of combined genotype and haplotype frequencies has found statistically significant differences between case and control subjects for some combinations. The AA-GG binary genotype for the FAS670 and FAS1377 loci couple, in particular, may have a high degree of predisposition to idiopathic azoospermia. Our results suggest that FAS -670A/G SNP may be a genetic predisposing factor of idiopathic azoospermia among southeastern Anatolian men. Larger studies are needed to verify these findings. Furthermore, our data indicated a possible linkage between the FAS and FASLG genes and idiopathic azoospermia.

Integrative analysis of copy number and gene expression data suggests novel pathogenetic mechanisms in primary myelofibrosis.

PubMed

Salati, Simona; Zini, Roberta; Nuzzo, Simona; Guglielmelli, Paola; Pennucci, Valentina; Prudente, Zelia; Ruberti, Samantha; Rontauroli, Sebastiano; Norfo, Ruggiero; Bianchi, Elisa; Bogani, Costanza; Rotunno, Giada; Fanelli, Tiziana; Mannarelli, Carmela; Rosti, Vittorio; Salmoiraghi, Silvia; Pietra, Daniela; Ferrari, Sergio; Barosi, Giovanni; Rambaldi, Alessandro; Cazzola, Mario; Bicciato, Silvio; Tagliafico, Enrico; Vannucchi, Alessandro M; Manfredini, Rossella

2016-04-01

Primary myelofibrosis (PMF) is a Myeloproliferative Neoplasm (MPN) characterized by megakaryocyte hyperplasia, progressive bone marrow fibrosis, extramedullary hematopoiesis and transformation to Acute Myeloid Leukemia (AML). A number of phenotypic driver (JAK2, CALR, MPL) and additional subclonal mutations have been described in PMF, pointing to a complex genomic landscape. To discover novel genomic lesions that can contribute to disease phenotype and/or development, gene expression and copy number signals were integrated and several genomic abnormalities leading to a concordant alteration in gene expression levels were identified. In particular, copy number gain in the polyamine oxidase (PAOX) gene locus was accompanied by a coordinated transcriptional up-regulation in PMF patients. PAOX inhibition resulted in rapid cell death of PMF progenitor cells, while sparing normal cells, suggesting that PAOX inhibition could represent a therapeutic strategy to selectively target PMF cells without affecting normal hematopoietic cells' survival. Moreover, copy number loss in the chromatin modifier HMGXB4 gene correlates with a concomitant transcriptional down-regulation in PMF patients. Interestingly, silencing of HMGXB4 induces megakaryocyte differentiation, while inhibiting erythroid development, in human hematopoietic stem/progenitor cells. These results highlight a previously un-reported, yet potentially interesting role of HMGXB4 in the hematopoietic system and suggest that genomic and transcriptional imbalances of HMGXB4 could contribute to the aberrant expansion of the megakaryocytic lineage that characterizes PMF patients. © 2015 UICC.

Long-term efficacy of abatacept in pediatric patients with idiopathic uveitis: a case series.

PubMed

Marrani, Edoardo; Paganelli, Valeria; de Libero, Cinzia; Cimaz, Rolando; Simonini, Gabriele

2015-10-01

Non-infectious uveitis represents one of the most common causes of blindness, even at pediatric age; in particular, idiopathic chronic uveitis can pose significant difficulties during treatment, due to a partial response to TNF-α antagonists. To date, very few case series exist describing the treatment of idiopathic uveitis not adequately controlled by TNF-α antagonists. The aim of our study is to describe the role of abatacept in achieving remission in patients with idiopathic uveitis previously treated with TNF-α antagonists, and to assess how long abatacept efficacy is maintained during follow-up. The treatment's safety profile and tolerability were also specifically investigated. Three patients affected with chronic idiopathic uveitis, who have been treated with abatacept due to loss of efficacy of TNF-α antagonists, were reviewed. Details of the demographic and clinical characteristics were recorded, and a summary of the medical history was obtained. Patients were regularly reviewed in the ophthalmology and rheumatology clinics. Assessment of their ocular condition was characterized according to the Standardization of Uveitis Nomenclature (SUN) group. In our patients, abatacept was able to induce remission and to discontinue systemic corticosteroids after a mean of 30 weeks; the drug maintained its efficacy through a long follow-up period (42, 33, and 18 months respectively), with an excellent safety profile. Our small case series seems to suggest abatacept to be a promising therapy in children affected with chronic idiopathic uveitis not adequately controlled by TNF-α antagonists.

Incidental (malignancy) and coincidental (idiopathic polydactylous longitudinal erythronychia) conditions in patients with segmental neurofibromatosis.

PubMed

Cohen, Philip R

2013-04-01

Segmental neurofibromatosis (SNF) is an uncommon presentation of neurofibromatosis type 1 (NF-1). Although patients with SNF are at a lower risk for developing NF-l-associated complications, the estimated occurrence of related malignancies may be approaching the frequency observed in patients with NF-1. Idiopathic polydactylous longitudinal erythronychia also may be associated with SNF, though the frequency of this association remains to be determined.

Idiopathic granulomatous lobular mastitis.

PubMed

Pereira, Frederick A; Mudgil, Adarsh V; Macias, Edgar S; Karsif, Karen

2012-02-01

Idiopathic granulomatous lobular mastitis (IGLM) is a rare breast condition with prominent skin findings. It is typically seen in young parous women. Painful breast masses, draining sinuses, scarring, and breast atrophy are the main clinical manifestations. IGLM can resemble a variety of other inflammatory and neoplastic processes of the breast. It is thought to result from obstruction and rupture of breast lobules. Extravasated breast secretions then induce an inflammatory reaction. Corynebacteria have also been implicated in the pathogenesis. Treatment is surgical, but systemic corticosteroids, methotrexate, and antibiotics also play a role. © 2012 The International Society of Dermatology.

Detection of equine herpesvirus in horses with idiopathic keratoconjunctivitis and comparison of three sampling techniques.

PubMed

Hollingsworth, Steven R; Pusterla, Nicola; Kass, Philip H; Good, Kathryn L; Brault, Stephanie A; Maggs, David J

2015-09-01

To determine the role of equine herpesvirus (EHV) in idiopathic keratoconjunctivitis in horses and to determine whether sample collection method affects detection of EHV DNA by quantitative polymerase chain reaction (qPCR). Twelve horses with idiopathic keratoconjunctivitis and six horses without signs of ophthalmic disease. Conjunctival swabs, corneal scrapings, and conjunctival biopsies were collected from 18 horses: 12 clinical cases with idiopathic keratoconjunctivitis and six euthanized controls. In horses with both eyes involved, the samples were taken from the eye judged to be more severely affected. Samples were tested with qPCR for EHV-1, EHV-2, EHV-4, and EHV-5 DNA. Quantity of EHV DNA and viral replicative activity were compared between the two populations and among the different sampling techniques; relative sensitivities of the sampling techniques were determined. Prevalence of EHV DNA as assessed by qPCR did not differ significantly between control horses and those with idiopathic keratoconjunctivitis. Sampling by conjunctival swab was more likely to yield viral DNA as assessed by qPCR than was conjunctival biopsy. EHV-1 and EHV-4 DNA were not detected in either normal or IKC-affected horses; EHV-2 DNA was detected in two of 12 affected horses but not in normal horses. EHV-5 DNA was commonly found in ophthalmically normal horses and horses with idiopathic keratoconjunctivitis. Because EHV-5 DNA was commonly found in control horses and in horses with idiopathic keratoconjunctivitis, qPCR was not useful for the etiological diagnosis of equine keratoconjunctivitis. Conjunctival swabs were significantly better at obtaining viral DNA samples than conjunctival biopsy in horses in which EHV-5 DNA was found. © 2015 American College of Veterinary Ophthalmologists.

Scoliosis Research Society (SRS) Criteria and Society of Scoliosis Orthopaedic and Rehabilitation Treatment (SOSORT) 2008 Guidelines in Non-Operative Treatment of Idiopathic Scoliosis.

PubMed

Korbel, Krzysztof; Kozinoga, Mateusz; Stoliński, Łukasz; Kotwicki, Tomasz

2014-07-28

According to the Scoliosis Research Society (SRS), idiopathic scoliosis (IS) is a curvature of more than 10° Cobb angle, affecting 2-3% of pediatric population. Idiopathic scoliosis accounts for 80% of all scoliosis cases. Non-operative principles in the therapy of idiopathic scoliosis, including Scoliosis Research Society (SRS) criteria and guidelines proposed by the experts of the Society on Scoliosis Orthopedic and Rehabilitation Treatment (SOSORTS) were presented. The possibility to carry out quality of life assessments in a conservative procedure was also demonstrated. Based on the natural history of idiopathic scoliosis, SRS criteria, SOSORT 2008 experts' opinion and the knowledge of the possibilities of psychological assessment of conservative IS treatment, rules were proposed regarding nonsurgical IS therapy procedures, with special consideration being paid to the proper treatment start time (age, Risser test, biological maturity, Cobb angle), possibility of curvature progression, the importance of physiotherapy and psychological assessment. The knowledge of SRS criteria and SOSORT guidelines regarding the conservative treatment of IS are essential for proper treatment (the right time to start treatment), and supports establishment of interdisciplinary treatment teams, consisting of a physician, a physiotherapist, an orthopedic technician and a psychologist.

Simultaneous double-rod rotation technique in posterior instrumentation surgery for correction of adolescent idiopathic scoliosis.

PubMed

Ito, Manabu; Abumi, Kuniyoshi; Kotani, Yoshihisa; Takahata, Masahiko; Sudo, Hideki; Hojo, Yoshihiro; Minami, Akio

2010-03-01

The authors present a new posterior correction technique consisting of simultaneous double-rod rotation using 2 contoured rods and polyaxial pedicle screws with or without Nesplon tapes. The purpose of this study is to introduce the basic principles and surgical procedures of this new posterior surgery for correction of adolescent idiopathic scoliosis. Through gradual rotation of the concave-side rod by 2 rod holders, the convex-side rod simultaneously rotates with the the concave-side rod. This procedure does not involve any force pushing down the spinal column around the apex. Since this procedure consists of upward pushing and lateral translation of the spinal column with simultaneous double-rod rotation maneuvers, it is simple and can obtain thoracic kyphosis as well as favorable scoliosis correction. This technique is applicable not only to a thoracic single curve but also to double major curves in cases of adolescent idiopathic scoliosis.

A systematic approach for the diagnosis and treatment of idiopathic peptic ulcers

PubMed Central

Chung, Chen-Shuan; Chiang, Tsung-Hsien; Lee, Yi-Chia

2015-01-01

An idiopathic peptic ulcer is defined as an ulcer with unknown cause or an ulcer that appears to arise spontaneously. The first step in treatment is to exclude common possible causes, including Helicobacter pylori infection, infection with other pathogens, ulcerogenic drugs, and uncommon diseases with upper gastrointestinal manifestations. When all known causes are excluded, a diagnosis of idiopathic peptic ulcer can be made. A patient whose peptic ulcer is idiopathic may have a higher risk for complicated ulcer disease, a poorer response to gastric acid suppressants, and a higher recurrence rate after treatment. Risk factors associated with this disease may include genetic predisposition, older age, chronic mesenteric ischemia, smoking, concomitant diseases, a higher American Society of Anesthesiologists score, and higher stress. Therefore, the diagnosis and management of emerging disease should systematically explore all known causes and treat underlying disease, while including regular endoscopic surveillance to confirm ulcer healing and the use of proton-pump inhibitors on a case-by-case basis. PMID:26354049

Sensory Impairment and Head Circumference in Fragile X Syndrome, Down Syndrome and Idiopathic Intellectual Disability.

ERIC Educational Resources Information Center

Turk, Jeremy; Patton, Michael

2000-01-01

Eighteen boys with fragile X syndrome were compared with 42 with idiopathic intellectual disability, and 45 with Down syndrome. Boys with Down syndrome had more sensory problems and smaller head circumferences than normal. Head circumferences of boys with fragile X syndrome and with idiopathic intellectual disability were larger than normal.…

Idiopathic Non-traumatic Facial Nerve Palsy (Bell's Palsy) in Neonates; An Atypical Age and Management Dilemma.

PubMed

Khair, Abdulhafeez M; Ibrahim, Khalid

2018-01-01

Idiopathic (Bell's) palsy is the commonest cause of unilateral facial paralysis in children. Although being idiopathic by definition, possible infectious, inflammatory, and ischemic triggers have been suggested. Bell's palsy is thought to be responsible for up to three-fourths of cases of acute unilateral facial paralysis worldwide. The diagnosis has to be reached after other causes of acute peripheral palsy have been excluded. However, it is rarely described in neonates and young infants. Steroids may have some role in treatment, but antiviral therapies have doubtful evidence of benefit. Prognosis is good, though residual dysfunction is occasionally encountered. We report the case of a two-week-old neonate with no prior illnesses who presented with acute left facial palsy. Clinical findings and normal brain imaging were consistent with the diagnosis of Bell's palsy. The patient had a good response to oral steroids.

The parietal epithelial cell is crucially involved in human idiopathic focal segmental glomerulosclerosis.

PubMed

Dijkman, Henry; Smeets, Bart; van der Laak, Jeroen; Steenbergen, Eric; Wetzels, Jack

2005-10-01

Focal segmental glomerulosclerosis (FSGS) is one of the most common patterns of glomerular injury encountered in human renal biopsies. Epithelial hyperplasia, which can be prominent in FSGS, has been attributed to dedifferentiation and proliferation of podocytes. Based on observations in a mouse model of FSGS, we pointed to the role of parietal epithelial cells (PECs). In the present study we investigated the relative role of PECs and podocytes in human idiopathic FSGS. We performed a detailed study of lesions from a patient with recurrent idiopathic FSGS by serial sectioning, marker analysis and three-dimensional reconstruction of glomeruli. We have studied the expression of markers for podocytes, PECs, mesangial cells, endothelium, and myofibroblasts. We also looked at proliferation and composition of the deposited extracellular matrix (ECM). We found that proliferating epithelial cells in FSGS lesions are negative for podocyte and macrophage markers, but stain for PEC markers. The composition of the matrix deposited by these cells is identical to Bowman's capsule. Our study demonstrates that PECs are crucially involved in the pathogenesis of FSGS lesions.

Imaging findings in Idiopathic lobular granulomattous mastitis, case report and review of literature.

PubMed

Boarki, K; Labib, M

2010-01-01

Idiopathic lobular granulomatous mastititis is a rare inflammatory disease of the breast. Since the clinical manifestations simulate those of mammary malignancy, it is often misdiagnosed. We report a case in a 25 yrs old Egyptian woman who had presented with complaint of a painful mass in her right breast of 3 months duration. Clinical and radiological examinations were indeterminate of its nature and the diagnosis was established by histopathogical, microbiological and serological tests. Review of relevant literature mention the features of Idiopathic lobular granulomatous mastititis, which impose significant challenge on clinical, radiological and even histopathological diagnosis. These correlate well with our case scenario also. Complete resection of the lesions and/or administration of steroids are usually the recommended treatment, however about 38% patients may experience recurrence. Hence proper post treatment follow up is mandatory. Awareness among the clinicians, radiologists and pathologists about this disease entity is required and multi disciplinary approach is imperative to establish the diagnosis. We hope to convey these facts through this article with the review of relevant literature.

Subjective symptoms in idiopathic hypersomnia: beyond excessive sleepiness.

PubMed

Vernet, Cyrille; Leu-Semenescu, Smaranda; Buzare, Marie-Annick; Arnulf, Isabelle

2010-12-01

Patients with idiopathic hypersomnia never feel fully alert despite a normal or long sleep night. The spectrum of the symptoms is insufficiently studied. We interviewed 62 consecutive patients with idiopathic hypersomnia (with a mean sleep latency lower than 8 min or a sleep time longer than 11 h) and 50 healthy controls using a questionnaire on sleep, awakening, sleepiness, alertness and cognitive, psychological and functional problems during daily life conditions. Patients slept 3 h more on weekends, holidays and in the sleep unit than on working days. In the morning, the patients needed somebody to wake them, or to be stressed, while routine, light, alarm clocks and motivation were inefficient. Three-quarters of the patients did not feel refreshed after short naps. During the daytime, their alertness was modulated by the same external conditions as controls, but they felt more sedated in darkness, in a quiet environment, when listening to music or conversation. Being hyperactive helped them more than controls to resist sleepiness. They were more frequently evening-type and more alert in the evening than in the morning. The patients were able to focus only for 1 h (versus 4 h in the controls). They complained of attention and memory deficit. Half of them had problems regulating their body temperature and were near-sighted. Mental fatigability, dependence on other people for awakening them, and a reduced benefit from usually alerting conditions (except being hyperactive or stressed) seem to be more specific of the daily problems of patients with idiopathic hypersomnia than daytime sleepiness. © 2010 European Sleep Research Society.

New onset of idiopathic bilateral ear tics in an adult.

PubMed

Agrawal, Amit; Shrestha, Rabin

2009-04-01

Tic disorders are commonly considered to be childhood syndromes. Newly presenting tic disorders during adulthood are uncommon and mostly described in relation to an acquired brain lesion or as incidental tics, particularly in context with other neurological or psychiatric diseases. Tic disorder involving the ears is extremely uncommon with only few studies in English literature. In the present case, we describe an adult patient with new-onset idiopathic tics disorder involving both ears, causing social embarrassment. In addition, our patient had recent onset of the tics without any childhood or family history of tic disorders. The single most important component of management is an accurate diagnosis. At the same time, tics should be differentiated from other movement disorders such as chorea, stereotypy, and dystonias.

Idiopathic Intracranial Hypertension in Children and Adolescents: An Update.

PubMed

Cleves-Bayon, Catalina

2018-03-01

Idiopathic intracranial hypertension (IIH), previously known as pseudotumor cerebri syndrome (PTC) is a serious neurological disorder that can lead to irreversible visual loss. Predominantly a disorder affecting women in reproductive years, the pediatric population is not spared. In the past few years, the condition has been redefined, due to new accepted values for opening pressure in children and advances in neuroimaging. Emerging techniques in ophthalmology are being increasingly used to monitor disease in these patients. And, although the treatment tools have not changed in several years, important evidence for efficacy for acetazolamide finally came to light in recent years in the Idiopathic Intracranial Hypertension Treatment Trial (IIHTT). This review article provides an overview on recent advances in diagnosis, evaluation and treatment of IIH. © 2017 American Headache Society.

Precision Medicine: The New Frontier in Idiopathic Pulmonary Fibrosis

PubMed Central

Brownell, Robert; Kaminski, Naftali; Woodruff, Prescott G.; Bradford, Williamson Z.; Richeldi, Luca; Martinez, Fernando J.

2016-01-01

Precision medicine is defined by the National Institute of Health’s Precision Medicine Initiative Working Group as an approach to disease treatment that takes into account individual variability in genes, environment, and lifestyle. There has been increased interest in applying the concept of precision medicine to idiopathic pulmonary fibrosis, in particular to search for genetic and molecular biomarker-based profiles (so called endotypes) that identify mechanistically distinct disease subgroups. The relevance of precision medicine to idiopathic pulmonary fibrosis is yet to be established, but we believe that it holds great promise to provide targeted and highly effective therapies to patients. In this manuscript, we describe the field’s nascent efforts in genetic/molecular endotype identification and how environmental and behavioral subgroups may also be relevant to disease management. PMID:26991475

Bell's palsy before Bell: Evert Jan Thomassen à Thuessink and idiopathic peripheral facial paralysis.

PubMed

van de Graaf, R C; IJpma, F F A; Nicolai, J-P A; Werker, P M N

2009-11-01

Bell's palsy is the eponym for idiopathic peripheral facial paralysis. It is named after Sir Charles Bell (1774-1842), who, in the first half of the nineteenth century, discovered the function of the facial nerve and attracted the attention of the medical world to facial paralysis. Our knowledge of this condition before Bell's landmark publications is very limited and is based on just a few documents. In 1804 and 1805, Evert Jan Thomassen à Thuessink (1762-1832) published what appears to be the first known extensive study on idiopathic peripheral facial paralysis. His description of this condition was quite accurate. He located several other early descriptions and concluded from this literature that, previously, the condition had usually been confused with other afflictions (such as 'spasmus cynicus', central facial paralysis and trigeminal neuralgia). According to Thomassen à Thuessink, idiopathic peripheral facial paralysis and trigeminal neuralgia were related, being different expressions of the same condition. Thomassen à Thuessink believed that idiopathic peripheral facial paralysis was caused by 'rheumatism' or exposure to cold. Many aetiological theories have since been proposed. Despite this, the cold hypothesis persists even today.

Non-Autoimmune Subclinical and Overt Hypothyroidism in Idiopathic Steroid-resistant Nephrotic Syndrome in Children.

PubMed

Marimuthu, Vidhya; Krishnamurthy, Sriram; Rajappa, Medha

2017-11-15

To evaluate the frequency of non-autoimmune subclinical and overt hypothyroidism in children with idiopathic steroid-resistant nephrotic syndrome (SRNS). This cross-sectional study recruited 30 children (age 1-18 y) with idiopathic SRNS; and 30 healthy controls. Serum T3, T4 and TSH were performed in cases as well as controls. Anti-thyroid peroxidase and anti-thyroglobulin antibody tests were performed in all cases. Non-autoimmune subclinical or overt hypothyroidism was detected in 10 out of 30 children with idiopathic SRNS; 2 had overt hypothyroidism, while 8 patients had subclinical hypothyroidism. Children with SRNS had a mean (SD) TSH value 4.55 (4.64) mIU/L that was higher as compared to controls (1.88 (1.04) mIU/L) (P<0.01). Focal segmental glomerulosclerosis (FSGS) was the commonest histopathological condition, seen in 13 (43.3%). Children with overt hypothyroidism (2 cases) and grade III subclinical hypothyroidism (1 case) were subsequently started on levothyroxine therapy. The prevalence of subclinical and overt hypothyroidism seems to be high in idiopathic SRNS, with almost one-third of children having overt or subclinical non-autoimmune hypothyroidism.

The consequences of idiopathic partial epilepsies in relation to neuropsychological functioning: a closer look at the associated mathematical disability.

PubMed

Sart, Z Hande; Demirbilek, Veysi; Korkmaz, Bariş; Slade, Peter D; Dervent, Ayşin; Townes, Brenda D

2006-03-01

Although the seizure prognosis is mostly favorable in idiopathic partial epilepsies, there is some empirical evidence showing that subtle neuropsychological impairments, with a consequent risk of academic underachievement, are not rare. We investigated neuropsychological functioning including attention, memory, visuomotor ability, and executive functioning with a closer look at the associated mathematical ability in patients with idiopathic partial epilepsies. A battery of age-appropriate, neuropsychological and mathematics achievement tests was administered to 30 participants with idiopathic partial epilepsy [13 children with benign epilepsy with centrotemporal spikes (BECTS), 17 children with idiopathic childhood occipital epilepsies (ICOE)], and to 30 healthy participants matched for age, sex, handedness, and socioeconomic status. Results did not support any impairment in overall neuropsychological functioning in participants with idiopathic partial epilepsies, whereas, isolated deficits did exist. The mean performance of the IPE group was significantly lower than the control group in six out of 12, neuropsychological measures: drawing (p < 0.01), digit span (p < 0.05), verbal learning (p < 0.01), object assembly (p < 0.01), similarities (p < 0.05), and vocabulary (p < 0.001). Results suggested that one should be cautious regarding neuropsychological and academic prognosis in the so-called benign idiopathic partial epilepsies of childhood.

SOLITARY IDIOPATHIC CHOROIDITIS IN THE SETTING OF EXTENSIVE ANIMAL EXPOSURE.

PubMed

Kumar, Vivek; Khoo, Chloe T L; Shields, Carol L

2016-01-01

To describe solitary idiopathic choroiditis in the setting of extensive animal exposure. A 56-year-old asymptomatic female equestrian with an extensive history of exposure to horses and dogs and a trapper of wild animals and rodents was discovered to have an amelanotic choroidal mass in the macular region and referred for suspicious atypical nevus. Funduscopy revealed a deep yellow mass with overlying retinal pigment epithelial thinning and without visible subretinal fluid or lipofuscin. Mild hyperautofluorescence represented unmasking of scleral autofluorescence. Ultrasonography showed a 1.8-mm-thick echodense lesion. Enhanced depth imaging-optical coherence tomography disclosed a dense, elevated scleral mass with "volcanic" configuration, demonstrating choroidal compression and trace overlying subretinal fluid. These features were consistent with solitary idiopathic choroiditis/scleritis. Systemic evaluation for standard cat-related bartonellosis, tuberculosis, sarcoidosis, and syphilis were negative. Horse-, dog-, and rodent-related bartonellosis testing was not available. Observation was advised, and the findings remained stable at 6 months. Solitary idiopathic choroiditis is best imaged on enhanced depth imaging-optical coherence tomography as a scleral lesion with "volcanic" configuration and often secondary to previous Bartonella infection. Serologic positivity for cat-related Bartonella decays over time, and testing for horse-, dog-, or rodent-related Bartonella is not commonly used.

The diagnosis of idiopathic pulmonary fibrosis: current and future approaches

PubMed Central

Martinez, Fernando J; Chisholm, Alison; Collard, Harold R; Flaherty, Kevin R; Myers, Jeffrey; Raghu, Ganesh; Walsh, Simon LF; White, Eric S; Richeldi, Luca

2017-01-01

With the recent development of two effective treatments for patients with idiopathic pulmonary fibrosis, an accurate diagnosis is crucial. The traditional approach to diagnosis emphasises the importance of thorough clinical and laboratory evaluations to exclude secondary causes of disease. High-resolution CT is a critical initial diagnostic test and acts as a tool to identify patients who should undergo surgical lung biopsy to secure a definitive histological diagnosis of usual interstitial pneumonia pattern. This diagnostic approach faces several challenges. Many patients with suspected idiopathic pulmonary fibrosis present with atypical high-resolution CT characteristics but are unfit for surgical lung biopsy, therefore preventing a confident diagnosis. The state of the art suggests an iterative, multidisciplinary process that incorporates available clinical, laboratory, imaging, and histological features. Recent research has explored genomic techniques to molecularly phenotype patients with interstitial lung disease. In the future, clinicians will probably use blood-specific or lung-specific molecular markers in combination with other clinical, physiological, and imaging features to enhance diagnostic efforts, refine prognostic recommendations, and influence the initial or subsequent treatment options. There is an urgent and increasing need for well designed, large, prospective studies measuring the effect of different diagnostic approaches. Ultimately, this will help to inform the development of guidelines and tailor clinical practice for the benefit of patients. PMID:27932290

[Effects of temporal lobe epilepsy and idiopathic epilepsy on cognitive function and emotion in children].

PubMed

Yang, Xiao-Yan; Long, Li-Li; Xiao, Bo

2016-07-01

To investigate the effects of temporal lobe epilepsy and idiopathic epilepsy on cognitive function and emotion in children and the risk factors for cognitive impairment. A retrospective analysis was performed for the clinical data of 38 children with temporal lobe epilepsy and 40 children with idiopathic epilepsy. The controls were 42 healthy children. All subjects received the following neuropsychological tests: Montreal Cognitive Assessment (MoCA) scale, verbal fluency test, digit span test, block design test, Social Anxiety Scale for Children (SASC), and Depression Self-rating Scale for Children (DSRSC). Compared with the control group, the temporal lobe epilepsy and idiopathic epilepsy groups showed significantly lower scores of MoCA, verbal fluency, digit span, and block design (P<0.05) and significantly higher scores on SASC and DSRSC (P<0.05). Compared with the idiopathic epilepsy group, the temporal lobe epilepsy group showed significantly lower scores of MoCA, verbal fluency, digit span, and block design (P<0.05) and significantly higher scores on SASC and DSRSC (P<0.05). In the temporal lobe epilepsy group, MoCA score was negatively correlated with SASC score, DSRSC score, and seizure frequency (r=-0.571, -0.529, and -0.545 respectively; P<0.01). In the idiopathic epilepsy group, MoCA score was also negatively correlated with SASC score, DSRSC score, and seizure frequency (r=-0.542, -0.487, and -0.555 respectively; P<0.01). Children with temporal lobe epilepsy and idiopathic epilepsy show impaired whole cognition, verbal fluency, memory, and executive function and have anxiety and depression, which are more significant in children with temporal lobe epilepsy. High levels of anxiety, depression, and seizure frequency are risk factors for impaired cognitive function.

The effectiveness of core stabilization exercise in adolescent idiopathic scoliosis: A randomized controlled trial.

PubMed

Gür, Gözde; Ayhan, Cigdem; Yakut, Yavuz

2017-06-01

Core stabilization training is used to improve postural balance in musculoskeletal problems. The purpose of this study was to investigate the effectiveness of stabilization training in adolescent idiopathic scoliosis. A randomized controlled trial, pretest-posttest design. In total, 25 subjects with adolescent idiopathic scoliosis were randomly divided into two groups: stabilization group ( n = 12) and control group ( n = 13). The stabilization group received core stabilization in addition to traditional rehabilitation, and the control group received traditional rehabilitation for 10 weeks. Assessment included Cobb's angle on radiograph, apical vertebral rotation in Adam's test, trunk asymmetry (Posterior Trunk Symmetry Index), cosmetic trunk deformity (Trunk Appearance Perception Scale), and quality of life (Scoliosis Research Society-22 questionnaire). Inter-group comparisons showed significantly greater improvements in the mean change in lumbar apical vertebral rotation degree and the pain domain of Scoliosis Research Society-22 in the stabilization group than those in the control group ( p < 0.05). No significant differences were observed for other measurements between the groups; however, trends toward greater improvement were observed in the stabilization group. Core stabilization training in addition to traditional exercises was more effective than traditional exercises alone in the correction of vertebral rotation and reduction of pain in adolescent idiopathic scoliosis. Clinical relevance Stabilization exercises are more effective in reducing rotation deformity and pain than traditional exercises in the conservative rehabilitation of adolescent idiopathic scoliosis. These improvements suggest that stabilization training should be added to rehabilitation programs in adolescent idiopathic scoliosis.

Idiopathic hypersomnia in an aircrew member.

PubMed

Withers, B G; Loube, D I; Husak, J P

1999-08-01

In aviation, it is essential that all aircrew members remain alert and contribute, by their observations and actions, to flight safety. Especially in helicopter operations, crewmembers riding in the rear of the aircraft play an integral role in many aspects of flight, such as take-offs, landings, turns, formation flights, hazard avoidance, situational awareness, military operations, and crew coordination. We present the case of a helicopter crew chief with idiopathic hypersomnia, briefly review the disorder, and give the recent U.S. military aviation experience with sleep disorders. Flight surgeons and aeromedical examiners should be active in considering and diagnosing sleep-related disorders as the aviator or crewmember may not be aware of the disease or may not volunteer the history. A directed history is important in making the diagnosis, as are reports from family and other aircrew members. Referral to a sleep specialist is required in performing objective sleep studies, establishing the diagnosis, recommending treatment, and providing a prognosis. Many sleep disorders are treatable and aeromedically waiverable.

Co-existence of idiopathic cecal ulcer and incidental appendix carcinoid tumor

PubMed Central

İnce, Volkan; Barut, Bora; Karakaş, Serdar

2016-01-01

Idiopathic cecal ulcer or solitary cecal ulcer is a rare entity that can only be diagnosed by histopathological evaluation. Generally, it is diagnosed by histolopathological evaluation of biopsy specimens obtained by colonoscopy that is performed for lower gastrointestinal bleeding. It can also be diagnosed after surgical resection performed for acute abdomen or cecal mass mimicking malignancy. Cecal carcinoid tumor is a rare cause of this condition; however, coexistence of cecal ulcer and appendix carcinoid tumor has not been previously reported. In this case, we present a 73-year-old woman who clinically presented as acute appendicitis with cecal wall thickening, underwent right hemicolectomy and was subsequently diagnosed with cecal ulcer, serosal abscess and coexisting appendix carcinoid tumor. PMID:28149127

Effect of pirfenidone on mortality: pooled analyses and meta-analyses of clinical trials in idiopathic pulmonary fibrosis.

PubMed

Nathan, Steven D; Albera, Carlo; Bradford, Williamson Z; Costabel, Ulrich; Glaspole, Ian; Glassberg, Marilyn K; Kardatzke, David R; Daigl, Monica; Kirchgaessler, Klaus-Uwe; Lancaster, Lisa H; Lederer, David J; Pereira, Carlos A; Swigris, Jeffrey J; Valeyre, Dominique; Noble, Paul W

2017-01-01

In clinical trials of idiopathic pulmonary fibrosis, rates of all-cause mortality are low. Thus prospective mortality trials are logistically very challenging, justifying the use of pooled analyses or meta-analyses. We did pooled analyses and meta-analyses of clinical trials of pirfenidone versus placebo to determine the effect of pirfenidone on mortality outcomes over 120 weeks. We did a pooled analysis of the combined patient populations of the three global randomised phase 3 trials of pirfenidone versus placebo-Clinical Studies Assessing Pirfenidone in Idiopathic Pulmonary Fibrosis: Research of Efficacy and Safety Outcomes (CAPACITY 004 and 006; trial durations 72-120 weeks) and Assessment of Pirfenidone to Confirm Efficacy and Safety in Idiopathic Pulmonary Fibrosis (ASCEND 016; 52 weeks)-for all-cause mortality, treatment-emergent all-cause mortality, idiopathic-pulmonary-fibrosis-related mortality, and treatment-emergent idiopathic-pulmonary-fibrosis-related mortality at weeks 52, 72, and 120. We also did meta-analyses of these data and data from two Japanese trials of pirfenidone versus placebo-Shionogi Phase 2 (SP2) and Shionogi Phase 3 (SP3; trial durations 36-52 weeks). At week 52, the relative risk of death for all four mortality outcomes was significantly lower in the pirfenidone group than in the placebo group in the pooled population (all-cause mortality hazard ratio [HR] 0·52 [95% CI 0·31-0·87; p=0·0107]; treatment-emergent all-cause mortality 0·45 [0·24-0·83; 0·0094]; idiopathic-pulmonary-fibrosis-related mortality 0·35 [0·17-0·72; 0·0029]; treatment-emergent idiopathic-pulmonary-fibrosis-related mortality 0·32 [0·14-0·76; 0·0061]). Consistent with the pooled analysis, meta-analyses for all-cause mortality at week 52 also showed a clinically relevant and significant risk reduction in the pirfenidone group compared with the placebo group. Over 120 weeks, we noted significant differences in the pooled analysis favouring pirfenidone

Perioperative Management of Pregnant Women With Idiopathic Pulmonary Arterial Hypertension: An Observational Case Series Study From China.

PubMed

Zhang, Jinglan; Lu, Jiakai; Zhou, Xiaorui; Xu, Xuefeng; Ye, Qing; Ou, Qitan; Li, Yanna; Huang, Jiapeng

2018-03-07

The mortality of pregnant women with idiopathic pulmonary arterial hypertension (PAH) is very high. There are limited data on the management of idiopathic PAH during pregnancy. The authors aimed to examine systematically the characteristics of parturient women with idiopathic PAH, to explore the adverse effects of idiopathic PAH on pregnancy outcomes, and to report the multidisciplinary perioperative management strategy from the largest comprehensive cardiac hospital in China. Observational case series study. Tertiary referral acute care hospital in Beijing, China. The cases of 17 consecutive pregnant idiopathic PAH patients undergoing abortion or parturition at Anzhen Hospital were reviewed retrospectively. Preoperative characteristics, anesthesia method, intensive care management, PAH-specific therapy, and maternal and neonatal outcomes were analyzed in this case series study. Maternal and neonatal outcomes were the main measures. The mean ages of the 17 parturient women with idiopathic PAH were 28.3 ± 5.4 years, and the mean systolic pulmonary arterial pressure was 97.9 ± 18.6 mmHg. Fifteen patients (88.2%) received PAH-specific therapy before delivery, including sildenafil, iloprost, and treprostinil. All except 1 parturient received epidural anesthesia for surgery due to an emergency Caesarean section. Three patients experienced pulmonary hypertension crisis that necessitated conversion to general anesthesia. Ten parturients underwent Caesarean delivery at a median gestational age of 31 weeks. Three patients developed acute pulmonary hypertensive crisis intraoperatively. Two patients underwent cardiopulmonary resuscitation and extracorporeal membrane oxygenation support. The maternal mortality was 17.6% (3/17). Of the 10 delivered neonates, 9 (90.0%) survived. The maternal mortality of the idiopathic PAH parturient was high in this case series from China. The authors applied epidural anesthesia, early management with multidisciplinary approaches, PAH

The distribution of immunomodulatory cells in the lungs of patients with idiopathic pulmonary fibrosis

PubMed Central

Nuovo, Gerard J.; Hagood, James S.; Magro, Cynthia M.; Chin, Nena; Kapil, Rubina; Davis, Luke; Marsh, Clay B.; Folcik, Virginia A.

2011-01-01

We have characterized the immune system involvement in the disease processes of idiopathic pulmonary fibrosis in novel ways. To do so, we analyzed lung tissue from 21 cases of idiopathic pulmonary fibrosis and 21 (non-fibrotic, non-cancerous) controls for immune cell and inflammation-related markers. The immunohistochemical analysis of the tissue was grouped by patterns of severity in disease pathology. There were significantly greater numbers of CD68+ and CD80+ cells, and significantly fewer CD3+, CD4+, and CD45RO+ cells in areas of relatively (histologically) normal lung in biopsies from idiopathic pulmonary fibrosis patients compared to controls. In zones of active disease, characterized by epithelial cell regeneration and fibrosis, there were significantly more cells expressing CD4, CD8, CD20, CD68, CD80, CCR6, S100, IL-17, tumor necrosis factor-α, and retinoic acid-related orphan receptors compared to histologically normal lung areas from idiopathic pulmonary fibrosis patients. Inflammation was implicated in these active regions by the cells that expressed retinoid orphan receptor-α, -β, and -γ, CCR6, and IL-17. The regenerating epithelial cells predominantly expressed these pro-inflammatory molecules, as evidenced by co-expression analyses with epithelial cytokeratins. Macrophages in pseudo-alveoli and CD3+ T cells in the fibrotic interstitium also expressed IL-17. Co-expression of IL-17 with retinoid orphan receptors, and epithelial cytoskeletal proteins, CD68, and CD3 in epithelial cells, macrophages, and T-cells, respectively, confirmed the production of IL-17 by these cell types. There was little staining for Foxp3, CD56, or CD34 in any idiopathic pulmonary fibrosis lung regions. The fibrotic regions had fewer immune cells overall. In summary, our study shows participation of innate and adaptive mononuclear cells in active-disease regions of idiopathic pulmonary fibrosis lung, where the regenerating epithelial cells appear to propagate inflammation

Computed tomographic features of idiopathic fibrosing interstitial pneumonia: comparison with pulmonary fibrosis related to collagen vascular disease.

PubMed

Hwang, Jeong-Hwa; Misumi, Shigeki; Sahin, Hakan; Brown, Kevin K; Newell, John D; Lynch, David A

2009-01-01

To compare the computed tomographic (CT) features of idiopathic fibrosing interstitial pneumonia with those of pulmonary fibrosis related to collagen vascular disease (CVD). We reviewed the CT scans of 177 patients with diffuse interstitial pulmonary fibrosis, of which 97 had idiopathic fibrosing interstitial pneumonia and 80 had CVD. The CT images were systematically scored for the presence and extent of pulmonary and extrapulmonary abnormalities. Computed tomographic diagnosis of usual interstitial pneumonia (UIP) or nonspecific interstitial pneumonia (NSIP) was assigned. A CT pattern of UIP was identified in 59 (60.8%) of patients with idiopathic fibrosing interstitial pneumonia compared with 15 (18.7%) of those patients with CVD; conversely, the CT diagnosis of NSIP was made in 51 (64%) of patients with CVD compared with 36 (37%) of patients with idiopathic disease (P < 0.01). In 113 patients who had lung biopsy, the CT diagnoses of UIP and NSIP were concordant with the histologic diagnoses in 36 of 50 patients and 34 of 41 patients, respectively. Pleural effusions, esophageal dilation, and pericardial abnormalities were more frequent in patients with CVD than in patients with idiopathic fibrosing interstitial pneumonia. Compared with patients with CVD, those patients with an idiopathic fibrosing interstitial pneumonia showed a higher prevalence of a UIP pattern and lower prevalence of an NSIP pattern as determined by CT. Identification of coexisting extrapulmonary abnormalities on CT can support a diagnosis of CVD.

Quality of life in patients with an idiopathic rapid eye movement sleep behaviour disorder in Korea.

PubMed

Kim, Keun Tae; Motamedi, Gholam K; Cho, Yong Won

2017-08-01

There have been few quality of life studies in patients with idiopathic rapid eye movement sleep behaviour disorder. We compared the quality of life in idiopathic rapid eye movement sleep behaviour disorder patients to healthy controls, patients with hypertension, type 2 diabetes mellitus without complication and idiopathic restless legs syndrome. Sixty patients with idiopathic rapid eye movement sleep behaviour disorder (24 female; mean age: 61.43 ± 8.99) were enrolled retrospectively. The diagnosis was established based on sleep history, overnight polysomnography, neurological examination and Mini-Mental State Examination to exclude secondary rapid eye movement sleep behavior disorder. All subjects completed questionnaires, including the Short Form 36-item Health Survey for quality of life. The total quality of life score in idiopathic rapid eye movement sleep behaviour disorder (70.63 ± 20.83) was lower than in the healthy control group (83.38 ± 7.96) but higher than in the hypertension (60.55 ± 24.82), diabetes mellitus (62.42 ± 19.37) and restless legs syndrome (61.77 ± 19.25) groups. The total score of idiopathic rapid eye movement sleep behaviour disorder patients had a negative correlation with the Pittsburg Sleep Quality Index (r = -0.498, P < 0.001), Insomnia Severity Index (r = -0.645, P < 0.001) and the Beck Depression Inventory-2 (r = -0.694, P < 0.001). Multiple regression showed a negative correlation between the Short Form 36-item Health Survey score and the Insomnia Severity Index (β = -1.100, P = 0.001) and Beck Depression Inventory-2 (β = -1.038, P < 0.001). idiopathic rapid eye movement sleep behaviour disorder had a significant negative impact on quality of life, although this effect was less than that of other chronic disorders. This negative effect might be related to a depressive mood associated with the disease. © 2016 European Sleep Research Society.

Clinical and nutritional outcomes in children with idiopathic superior mesenteric artery syndrome.

PubMed

Shiu, Jr-Rung; Chao, Hsun-Chin; Luo, Chih-Cheng; Lai, Ming-Wei; Kong, Man-Shan; Chen, Shih-Yen; Chen, Chien-Chang; Wang, Chao-Jan

2010-08-01

There are no available data for outcomes in children's idiopathic superior mesenteric artery syndrome (SMAS) strictly treated conservatively. The aim of the study was to evaluate clinical and nutritional outcome in children with idiopathic SMAS. A 1-year prospective observation study of effects of treatment and outcome was performed in 27 children (8 boys, 19 girls) with idiopathic SMAS who underwent an upper gastrointestinal (UGI) series, ultrasound measurement of the aortomesenteric angle, treatment, clinical assessment, growth evaluation, and regular clinical visits for more than 12 months. Mean age of the patients was 11.77 +/- 2.15 years. The major clinical complaints were postprandial pain or fullness (88.9%), vomiting (55.6%), and early satiety (51.9%). Eight patients (29.6%) had weight loss. The UGI series revealed typical features of SMAS. The aortomesenteric angle on ultrasound was 10 degrees to 19 degrees. The height of most patients (92.6%) was above the 10th percentile, whereas 15 (55.6%) patients weighed below the 10th percentile. Six patients underwent surgical intervention (3 for obstruction and 3 for persistent anorexia with weight loss), and their clinical symptoms and weight status improved steadily during the follow-up months. Among the 21 patients not subject to surgical intervention, 11 (52.4%) experienced a reduction of symptoms >50% after 3 months of treatment, and weight-for-age percentile increased significantly after 6 months of treatment. Overall, a significant increase in the weight-for-age status was seen in the patients with surgical treatment or with medication only after 6 and 12 months of treatment. An aortomesenteric angle <20 degrees is a constant phenomenon in children with idiopathic SMAS. A duodenojejunostomy can effectively relieve the obstructive symptoms, such as anorexia, and improve nutritional status, whereas long-term medical treatment may aid in relieving the clinical symptoms, promoting appetite, and improving

Retrospective Study Evaluating Treatment Decisions and Outcomes of Childhood Uveitis Not Associated with Juvenile Idiopathic Arthritis.

PubMed

Sardar, Elham; Dusser, Perrine; Rousseau, Antoine; Bodaghi, Bahram; Labetoulle, Marc; Koné-Paut, Isabelle

2017-07-01

To evaluate treatment, ocular complications and outcomes of children with pediatric uveitis not associated with juvenile idiopathic arthritis. This was a retrospective chart review of pediatric uveitis in children under 16 years of age, recruited from the pediatric rheumatology department at Bicêtre Hospital from 2005 to 2015. Patients with juvenile idiopathic arthritis-associated and infectious uveitis were excluded. We used the Standardization of Uveitis Nomenclature Working Group to classify uveitis, disease activity, and treatment end points. We enrolled 56 patients and 102 affected eyes. The mean age at diagnosis was 10 ± 3.5 years (range 3-15), and the mean follow-up 4.2 ± 3.3 years (1-15). The main diagnoses were idiopathic (55%), Behçet disease (15%), and sarcoidosis (5%). The main localization was panuveitis in 44 of 102 eyes (43%). Corticosteroid sparing treatment was needed in 62 of 102 eyes (60%). Second-line therapies included methotrexate and azathioprine, and the third-line therapy was a biologic agent, mainly infliximab, in 33 of 102 eyes (32%). Infliximab achieved uveitis inactivity in 14 of 18 eyes (80%), in all etiologies. Severe complications were present in 68 of 102 eyes (67%). The most common were synechiae 33% of eyes, cataract (20%), and macular edema (25%). Of these, 37% were present at diagnosis. Remission was achieved in 22 of 102 eyes (21%). Conventional therapies were insufficient to treat many of the cases of posterior or panuveitis. This study underlines the need for earlier and more aggressive treatment and antitumor necrosis factor-α therapy was rapidly efficient in most cases of refractory uveitis. Copyright © 2017 Elsevier Inc. All rights reserved.

Are bilateral idiopathic clubfeet more severe than unilateral feet? A severity and treatment analysis.

PubMed

Agarwal, Anil; Agrawal, Nargesh; Barik, Sitanshu; Gupta, Neeraj

2018-01-01

Evidences suggest that different subgroups of idiopathic clubfoot exist with differences in severity and treatment outcomes. This study compares the severity and treatment outcomes of unilateral and bilateral clubfoot. We retrospectively studied 161 patients (bilateral 66, unilateral 95) with primary idiopathic clubfeet to evaluate the differences in severity and treatment. The parameters analyzed were precasting Pirani score, number of casts required, pretenotomy Pirani score, pretenotomy dorsiflexion, rate of tenotomy, and post-tenotomy dorsiflexion achieved. A Pirani score of at least 5 was classified as very severe and 4.5 or less was classified as less severe. There were 49=(74.24%) male and 17 (25.75%) female patients in the bilateral group and 76 (80%) male and 19 (20%) female patients in the unilateral group. Out of 95 unilateral patients, 34 were left sided (35.8%). Comparing severity, the mean precasting Pirani score in bilateral patients (5.4 ± 0.6) was statistically more than the unilateral patients (4.9 ± 0.7). The number of casts required was significantly more in bilateral feet compared to unilateral (bilateral 5.3 ± 1.7, unilateral 4.7 ± 1.7; p < 0.011). Achilles tenotomy was required in all feet. Post Ponseti treatment, the foot deformity correction achieved (pretenotomy Pirani score, pretenotomy, and post-tenotomy dorsiflexion) was statistically similar in both unilateral and bilateral feet. Idiopathic bilateral clubfoot was more severe than unilateral foot at initial presentation and required more number of corrective casts. Post Ponseti treatment, the deformity correction in bilateral foot was similar to unilateral foot.

Acceptance and Commitment Therapy in the Rehabilitation of a Girl with Chronic Idiopathic Pain: Are We Breaking New Ground?

ERIC Educational Resources Information Center

Asmundson, Gordon J. G.; Hadjistavropolous, Heather D.

2006-01-01

Wicksell and colleagues (2005) addressed the important and currently understudied realm of chronic idiopathic musculoskeletal pain treatment in children. They presented a brief overview of empirically supported treatments for children with chronic pain, detailed their case and intervention strategy, and offered conclusions regarding the potential…

Idiopathic Parkinson's disease and depression: a psychosomatic view.

PubMed Central

Todes, C J

1984-01-01

The link between idiopathic Parkinson's disease and depression is examined in the light of psychosomatic theory. A view of the condition is offered as a manifestation of chronic emotional disorder in an organic sense. Predisposition arises from bereavement and/or maternal failure in early emotional development. PMID:6707677

Isolated upper eyelid retraction: a sign of idiopathic inflammatory orbital disease.

PubMed

Shome, Debraj; Toshniwal, Svetlana; Jain, Vandana; Natarajan, Sundaram; Vemuganti, Geeta K

2008-01-01

A 41-year-old woman was examined for left upper eyelid retraction. Remaining ocular and systemic examination was unremarkable. Orbital CT demonstrated an ill-defined, extraconal, superior orbital soft-tissue mass involving the levator palpebrae superioris muscle. Incisional biopsy with histopathology demonstrated idiopathic orbital inflammation. The patient was started on a gradually tapering dose of oral steroids, for 6 weeks. On follow-up, the eyelid retraction had resolved. We report this case to demonstrate that idiopathic inflammatory orbital disease, localized to the superior orbit, may cause isolated upper eyelid retraction without associated proptosis. This condition resolves with medical therapy, leading to symmetrical palpebral apertures.

Different immunophenotypical apoptotic profiles characterise megakaryocytes of essential thrombocythaemia and primary myelofibrosis.

PubMed

Florena, A M; Tripodo, C; Di Bernardo, A; Iannitto, E; Guarnotta, C; Porcasi, R; Ingrao, S; Abbadessa, V; Franco, V

2009-04-01

Essential thrombocythaemia (ET) and primary myelofibrosis (PMF) share some clinical and pathological features, but show different biological behaviour and prognosis. The latest contributions to understanding the nature of these disorders have focused on bone marrow microenvironment remodelling and proliferative stress, recognising megakaryocytes (MKCs) as "key-cells". The aim of this study was to investigate the apoptotic profile of ET and PMF MKCs in order to further characterise the biology of these disorders. Bone marrow biopsy samples from 30 patients with ET, and 30 patients with PMF, were immunophenotypically studied for the expression of pro-apoptotic (Fas, Fas-L, Bax, Bad) and anti-apoptotic (Bcl-2, Bcl-XL, hTERT (human telomerase reverse transcriptase)) molecules and the "executioner" molecule caspase-3. The fraction of MKCs undergoing apoptosis was assessed by deoxynucleotidyl transferase-mediated dUTP nick-end labelling. Only the mitochondrial pathway seemed to be involved in MKC apoptosis. The anti-apoptotic molecule Bcl-XL was predominantly found in ET MKCs (50.5% of ET MKCs versus 35% of PMF MKCs; p = 0.036), while pro-apoptotic molecules Bax and Bad showed a prevalent expression in PMF MKCs (30.5% of ET MKCs versus 55% of PMF MKCs; 41% of ET MKCs versus 52% of PMF MKCs; p = 0.001 and p = 0.068, respectively). A significant fraction of PMF MKCs were committed to apoptosis according to caspase-3 expression and TUNEL, while only few ET cells were committed to apoptosis. hTERT was significantly more expressed in PMF (32% of ET MKCs versus 46% of PMF MKCs; p = 0.022), in agreement with the proliferative nature of this disease. It was found that ET and PMF MKCs, which barely differ in terms of morphology and aggregation, are characterised by markedly different apoptotic profiles. The rather high apoptotic fraction of PMF was able to support the fibrotic nature of this process, while the anti-apoptotic profile of ET cells fits well with their "steady

Comparison of plasma, liver, and skeletal muscle carnitine concentrations in cats with idiopathic hepatic lipidosis and in healthy cats.

PubMed

Jacobs, G; Cornelius, L; Keene, B; Rakich, P; Shug, A

1990-09-01

Concentrations of total, free, and esterified carnitine were determined in plasma, liver, and skeletal muscle from cats with idiopathic hepatic lipidosis and compared with values from healthy cats. The mean concentrations of plasma, liver, and skeletal muscle total carnitine; plasma and skeletal muscle free carnitine; and plasma and liver esterified carnitine were greater (P less than 0.05) in cats with idiopathic hepatic lipidosis than in control cats. The mean for the ratio of free/total carnitine in plasma and liver was lower (P less than 0.05) in cats with idiopathic hepatic lipidosis than in control cats. These data suggest that carnitine deficiency does not contribute to the pathogenesis of feline idiopathic hepatic lipidosis.

Determinants of 6-minute walk distance in patients with idiopathic pulmonary fibrosis undergoing lung transplant evaluation.

PubMed

Porteous, Mary K; Rivera-Lebron, Belinda N; Kreider, Maryl; Lee, James; Kawut, Steven M

2016-03-01

Little is known about the physiologic determinants of 6-minute walk distance in idiopathic pulmonary fibrosis. We investigated the demographic, pulmonary function, echocardiographic, and hemodynamic determinants of 6-minute walk distance in patients with idiopathic pulmonary fibrosis evaluated for lung transplantation. We performed a cross-sectional analysis of 130 patients with idiopathic pulmonary fibrosis who completed a lung transplantation evaluation at the Hospital of the University of Pennsylvania between 2005 and 2010. Multivariable linear regression analysis was used to generate an explanatory model for 6-minute walk distance. After adjustment for age, sex, race, height, and weight, the presence of right ventricular dilation was associated with a decrease of 50.9 m (95% confidence interval [CI], 8.4-93.3) in 6-minute walk distance ([Formula: see text]). For each 200-mL reduction in forced vital capacity, the walk distance decreased by 15.0 m (95% CI, 9.0-21.1; [Formula: see text]). For every increase of 1 Wood unit in pulmonary vascular resistance, the walk distance decreased by 17.3 m (95% CI, 5.1-29.5; [Formula: see text]). Six-minute walk distance in idiopathic pulmonary fibrosis depends in part on circulatory impairment and the degree of restrictive lung disease. Future trials that target right ventricular morphology, pulmonary vascular resistance, and forced vital capacity may potentially improve exercise capacity in patients with idiopathic pulmonary fibrosis.

The Use of IL-1 Receptor Antagonist (Anakinra) in Idiopathic Recurrent Pericarditis: A Narrative Review

PubMed Central

Baskar, Shankar; Klein, Allan L.; Zeft, Andrew

2016-01-01

Recurrent pericarditis is a complication of acute pericarditis in 20–30% of the patients and is usually idiopathic in nature. The underlying pathogenesis of this condition remains unclear, although immune-mediated mechanisms seem likely. A subgroup of these patients with refractory symptoms can be challenging to manage, and multiple immunosuppressive medications have been used without consistent benefit. Anakinra, an interleukin-1 receptor antagonist, has been used in treatment of rheumatoid arthritis and autoinflammatory syndromes. Preliminary evidence suggests that anakinra could be a promising therapy for idiopathic recurrent pericarditis. In this narrative review, we summarize the current understanding of the etiopathogenesis of idiopathic recurrent pericarditis, mechanism of action of anakinra, and the preliminary evidence, supporting the use of anakinra in pericarditis. PMID:26942035

Chronic idiopathic inflammatory bowel diseases: the histology report.

PubMed

Cornaggia, Matteo; Leutner, Monica; Mescoli, Claudia; Sturniolo, Giacomo Carlo; Gullotta, Renzo

2011-03-01

The incidence of chronic idiopathic inflammatory bowel diseases (IBD) is growing in western countries, making their histological diagnosis an everyday task for all pathologists. Reviews from the literature strongly suggest that such diagnosis cannot be performed on the histological ground alone but requires a clinical-pathological approach. Moreover, bewildering variations can be observed in the terminology employed to report either individual lesions or diagnostic categories. The aim of the present paper is to suggest a practical diagnostic algorithm summarizing the main data from the literature. Particular emphasis has been placed on minimum clinical information required and the accurate definition of individual lesions. Diagnostic categories to employ and to avoid in daily practice have furthermore been stressed. Copyright © 2011 Editrice Gastroenterologica Italiana S.r.l. Published by Elsevier Ltd.. All rights reserved.

The Role of Correction in the Conservative Treatment of Adolescent Idiopathic Scoliosis.

PubMed

Ng, Shu-Yan; Nan, Xiao-Feng; Lee, Sang-Gil; Tournavitis, Nico

2017-01-01

Physiotherapeutic Scoliosis-Specific Exercises (PSSE) and bracing have been found to be effective in the stabilization of curves in patients with Adolescent Idiopathic Scoliosis (AIS). Yet, the difference among the many PSSEs and braces has not been studied. The present review attempts to investigate the role of curve correction in the outcome of treatment for PSSEs and braces. A PubMed manual search has been conducted for studies on the role of correction in the effectiveness of PSSE and bracing. For the PSSEs, the key words used were "adolescent idiopathic scoliosis, correction, physiotherapy, physical therapy, exercise, and rehabilitation." For bracing, the key words used were "adolescent idiopathic scoliosis, correction and brace". Only papers that were published from 2001-2017 were included and reviewed, as there were very few relevant papers dating earlier than 2001. The search found no studies on the role of correction on the effectiveness of different PSSEs. The effectiveness of different PSSEs might or might not be related to the magnitude of curve correction during the exercises. However, many studies showed a relationship between the magnitude of in-brace correction and the outcome of the brace treatment. The role of correction on the effectiveness of PSSE has not been studied. In-brace correction, however, has been found to be associated with the outcome of brace treatment. An in-brace correction of < 10% was associated with an increased rate of failure of brace treatment, whereas an in-brace correction of >40-50% was associated with an increased rate of brace treatment success ( i.e . stabilization or improvement of curves). Thus, in the treatment of AIS, patients should be advised to use highly corrective braces, in conjunction with PSSE since exercises have been found to help stabilize the curves during weaning of the brace. Presently, no specific PSSE can be recommended. Braces of high in-brace correction should be used in conjunction with PSSEs in

Positron emission tomography suggests that the rate of progression of idiopathic parkinsonism is slow

DOE Office of Scientific and Technical Information (OSTI.GOV)

Bhatt, M.H.; Snow, B.J.; Martin, W.R.

1991-06-01

The authors performed sequential positron emission tomography scans with 6-(18F)fluoro-L-dopa in 9 patients with idiopathic parkinsonism and 7 age-matched normal control subjects to compare changes in the nigrostriatal dopaminergic pathway over time. The mean interval between the scans was 3.3 years for the group with idiopathic parkinsonism and 3.9 years for the control subjects. The scans were analyzed by calculating the ratio of striatal to background radioactivity. Both groups showed statistically significant reductions of striatal uptake over the interval. The rate of decrease was almost identical in each group (p = 0.6). They infer that the usual rate of lossmore » of integrity of the dopaminergic nigrostriatal pathway in patients with idiopathic parkinsonism is slow and the rate of change between the two groups was comparable.« less

Angiotensin II type 1 and 2 receptors and lymphatic vessels modulate lung remodeling and fibrosis in systemic sclerosis and idiopathic pulmonary fibrosis.

PubMed

Parra, Edwin Roger; Ruppert, Aline Domingos Pinto; Capelozzi, Vera Luiza

2014-01-01

To validate the importance of the angiotensin II receptor isotypes and the lymphatic vessels in systemic sclerosis and idiopathic pulmonary fibrosis. We examined angiotensin II type 1 and 2 receptors and lymphatic vessels in the pulmonary tissues obtained from open lung biopsies of 30 patients with systemic sclerosis and 28 patients with idiopathic pulmonary fibrosis. Their histologic patterns included cellular and fibrotic non-specific interstitial pneumonia for systemic sclerosis and usual interstitial pneumonia for idiopathic pulmonary fibrosis. We used immunohistochemistry and histomorphometry to evaluate the number of cells in the alveolar septae and the vessels stained by these markers. Survival curves were also used. We found a significantly increased percentage of septal and vessel cells immunostained for the angiotensin type 1 and 2 receptors in the systemic sclerosis and idiopathic pulmonary fibrosis patients compared with the controls. A similar percentage of angiotensin 2 receptor positive vessel cells was observed in fibrotic non-specific interstitial pneumonia and usual interstitial pneumonia. A significantly increased percentage of lymphatic vessels was present in the usual interstitial pneumonia group compared with the non-specific interstitial pneumonia and control groups. A Cox regression analysis showed a high risk of death for the patients with usual interstitial pneumonia and a high percentage of vessel cells immunostained for the angiotensin 2 receptor in the lymphatic vessels. We concluded that angiotensin II receptor expression in the lung parenchyma can potentially control organ remodeling and fibrosis, which suggests that strategies aimed at preventing high angiotensin 2 receptor expression may be used as potential therapeutic target in patients with pulmonary systemic sclerosis and idiopathic pulmonary fibrosis.

Idiopathic portal hypertension regarding thiopurine treatment in patients with inflammatory bowel disease.

PubMed

Suárez Ferrer, Cristina; Llop Herrera, Elba; Calvo Moya, Marta; Vera Mendoza, María Isabel; González Partida, Irene; González Lama, Yago; Matallana Royo, Virginia; Calleja Panero, José Luis; Abreu García, Luis

2016-02-01

The possibility of developing idiopathic portal hypertension has been described with thiopurine treatment despite compromises the prognosis of these patients, the fact its true prevalence is unknown. A cross-sectional study was conducted in a cohort of inflammatory bowel disease (IBD) patients followed at our unit, to determine the prevalence of diagnosis of idiopathic portal hypertension (IPH) and its relationship with thiopurine treatment. At the time of the analysis, 927/1,419 patients were under treatment with thiopurine drugs (65%). A total of 4 patients with IBD type Crohn's disease with idiopathic portal hypertension probably related to the thiopurine treatment were identified (incidence of 4.3 cases per 1,000). Seventy-five percent of patients started with signs or symptoms of portal hypertension. Only one patient was asymptomatic but the diagnosis of IPH because of isolated thrombocytopenia is suspected. However, note that all patients had thrombocytopenia previously. Abdominal ultrasound with fibroscan, hepatic vein catheterization and liver biopsy were performed on all of them as part of the etiology of portal hypertension. In the abdominal ultrasound, indirect portal hypertension data were observed in all patients (as splenomegaly) cirrhosis was also ruled out. The fibroscan data showed significant liver fibrosis (F2-F3). Idiopathic portal hypertension following thiopurine treatment in IBD patients is a rare occurrence, but it must be borne in mind in the differential diagnosis for early diagnosis, especially in patients undergoing thiopurine treatment over a long period. The presence of thrombocytopenia is often the only predictor of its development in the preclinical stage.

Juvenile idiopathic arthritis-associated uveitis.

PubMed

Clarke, Sarah L N; Sen, Ethan S; Ramanan, Athimalaipet V

2016-04-27

Juvenile idiopathic arthritis (JIA) is the most common rheumatic disease of childhood, with JIA-associated uveitis its most common extra-articular manifestation. JIA-associated uveitis is a potentially sight-threatening condition and thus carries a considerable risk of morbidity. The aetiology of the condition is autoimmune in nature with the predominant involvement of CD4(+) T cells. However, the underlying pathogenic mechanisms remain unclear, particularly regarding interplay between genetic and environmental factors. JIA-associated uveitis comes in several forms, but the most common presentation is of the chronic anterior uveitis type. This condition is usually asymptomatic and thus screening for JIA-associated uveitis in at-risk patients is paramount. Early detection and treatment aims to stop inflammation and prevent the development of complications leading to visual loss, which can occur due to both active disease and burden of disease treatment. Visually disabling complications of JIA-associated uveitis include cataracts, glaucoma, band keratopathy and macular oedema. There is a growing body of evidence for the early introduction of systemic immunosuppressive therapies in order to reduce topical and systemic glucocorticoid use. This includes more traditional treatments, such as methotrexate, as well as newer biological therapies. This review highlights the epidemiology of JIA-associated uveitis, the underlying pathogenesis and how affected patients may present. The current guidelines and criteria for screening, diagnosis and monitoring are discussed along with approaches to management.

Idiopathic (primary) achalasia

PubMed Central

Farrokhi, Farnoosh; Vaezi, Michael F

2007-01-01

Idiopathic achalasia is a primary esophageal motor disorder characterized by esophageal aperistalsis and abnormal lower esophageal sphincter (LES) relaxation in response to deglutition. It is a rare disease with an annual incidence of approximately 1/100,000 and a prevalence rate of 1/10,000. The disease can occur at any age, with a similar rate in men and women, but is usually diagnosed between 25 and 60 years. It is characterized predominantly by dysphagia to solids and liquids, bland regurgitation, and chest pain. Weight loss (usually between 5 to 10 kg) is present in most but not in all patients. Heartburn occurs in 27%–42% of achalasia patients. Etiology is unknown. Some familial cases have been reported, but the rarity of familial occurrence does not support the hypothesis that genetic inheritance is a significant etiologic factor. Association of achalasia with viral infections and auto-antibodies against myenteric plexus has been reported, but the causal relationship remains unclear. The diagnosis is based on history of the disease, radiography (barium esophagogram), and esophageal motility testing (esophageal manometry). Endoscopic examination is important to rule out malignancy as the cause of achalasia. Treatment is strictly palliative. Current medical and surgical therapeutic options (pneumatic dilation, surgical myotomy, and pharmacologic agents) aimed at reducing the LES pressure and facilitating esophageal emptying by gravity and hydrostatic pressure of retained food and liquids. Although it cannot be permanently cured, excellent palliation is available in over 90% of patients. PMID:17894899

The clinical and molecular genetic features of idiopathic infantile periodic alternating nystagmus

PubMed Central

Thomas, Mervyn G.; Crosier, Moira; Lindsay, Susan; Kumar, Anil; Thomas, Shery; Araki, Masasuke; Talbot, Chris J.; McLean, Rebecca J.; Surendran, Mylvaganam; Taylor, Katie; Leroy, Bart P.; Moore, Anthony T.; Hunter, David G.; Hertle, Richard W.; Tarpey, Patrick; Langmann, Andrea; Lindner, Susanne; Brandner, Martina

2011-01-01

Periodic alternating nystagmus consists of involuntary oscillations of the eyes with cyclical changes of nystagmus direction. It can occur during infancy (e.g. idiopathic infantile periodic alternating nystagmus) or later in life. Acquired forms are often associated with cerebellar dysfunction arising due to instability of the optokinetic-vestibular systems. Idiopathic infantile periodic alternating nystagmus can be familial or occur in isolation; however, very little is known about the clinical characteristics, genetic aetiology and neural substrates involved. Five loci (NYS1-5) have been identified for idiopathic infantile nystagmus; three are autosomal (NYS2, NYS3 and NYS4) and two are X-chromosomal (NYS1 and NYS5). We previously identified the FRMD7 gene on chromosome Xq26 (NYS1 locus); mutations of FRMD7 are causative of idiopathic infantile nystagmus influencing neuronal outgrowth and development. It is unclear whether the periodic alternating nystagmus phenotype is linked to NYS1, NYS5 (Xp11.4-p11.3) or a separate locus. From a cohort of 31 X-linked families and 14 singletons (70 patients) with idiopathic infantile nystagmus we identified 10 families and one singleton (21 patients) with periodic alternating nystagmus of which we describe clinical phenotype, genetic aetiology and neural substrates involved. Periodic alternating nystagmus was not detected clinically but only on eye movement recordings. The cycle duration varied from 90 to 280 s. Optokinetic reflex was not detectable horizontally. Mutations of the FRMD7 gene were found in all 10 families and the singleton (including three novel mutations). Periodic alternating nystagmus was predominantly associated with missense mutations within the FERM domain. There was significant sibship clustering of the phenotype although in some families not all affected members had periodic alternating nystagmus. In situ hybridization studies during mid-late human embryonic stages in normal tissue showed restricted

Screening and monitoring of MPL W515L mutation with real-time PCR in patients with myelofibrosis undergoing allogeneic-SCT.

PubMed

Alchalby, H; Badbaran, A; Bock, O; Fehse, B; Bacher, U; Zander, A R; Kröger, N

2010-09-01

Monitoring of minimal residual disease (MRD) after allogeneic (allo)-SCT for myelofibrosis (MF) allows recognizing the depth of remission and thus guides application of appropriate therapeutic interventions. MPL W515L/K mutations, which are detected in 5-10% of JAK2V617F-negative patients, may be useful for this purpose. Using a highly sensitive quantitative PCR method, we tested 90 patients with MF who underwent allo-SCT for the presence of MPL W515L/K mutations. Two patients with primary MF were found to harbor MPLW515L while no patient was positive for MPLW515K mutation. Both patients were JAK2V617F negative and cleared the mutation rapidly after allo-SCT and remained negative for a median follow-up of 19 months. The results of molecular monitoring correlated well with other remission parameters such as normalization of peripheral blood counts and morphology and complete donor chimerism. We conclude that MPLW515L can be cleared after allo-SCT and hence may be used as an MRD marker in a proportion of JAK2V617F-negative MF patients.

Recognition and management of idiopathic systemic capillary leak syndrome: an evidence-based review.

PubMed

Baloch, Noor Ul-Ain; Bikak, Marvi; Rehman, Abdul; Rahman, Omar

2018-05-01

Idiopathic systemic capillary leak syndrome (SCLS) is a unique disorder characterized by episodes of massive systemic leak of intravascular fluid leading to volume depletion and shock. A typical attack of SCLS consists of prodromal, leak and post-leak phases. Complications, such as compartment syndrome and pulmonary edema, usually develop during the leak and post-leak phases respectively. Judicious intravenous hydration and early use of vasopressors is the cornerstone of management in such cases. Areas covered: The purpose of the present review is to provide an up-to-date, evidence-based review of our understanding of SCLS and its management in the light of currently available evidence. Idiopathic SCLS was first described in 1960 and, since then, more than 250 cases have been reported. A large number of cases have been reported over the past one decade, most likely due to improved recognition. In the acute care setting, most patients with SCLS are managed as per the Surviving Sepsis guidelines and receive aggressive volume resuscitation - which is not the optimal management strategy for such patients. There is a need to raise awareness amongst physicians and clinicians in order to improve recognition of this disorder and ensure its appropriate management.

Discrepancy in clinical versus radiological parameters describing deformity due to brace treatment for moderate idiopathic scoliosis.

PubMed

Kotwicki, Tomasz; Kinel, Edyta; Stryla, Wanda; Szulc, Andrzej

2007-12-03

The shape of the torso in patients with idiopathic scoliosis is considered to reflect the shape of the vertebral column, however the direct correlation between parameters describing clinical deformity and those characterizing radiological curvature was reported to be weak. It is not clear if the management proposed for scoliosis (physiotherapy, brace, surgery) affects equally the shape of the axial skeleton and the surface of the body. The aim of the study was to compare clinical deformity of (1) idiopathic scoliosis girls being under brace treatment for radiological curves of 25 to 40 degrees and (2) non treated scoliotic girls matched for age and Cobb angle. Cross-sectional study of 24 girls wearing the brace versus 26 girls without brace treatment, matched for age and Cobb angle. Patients wearing the brace for more than 6 months, when comparing to patients without brace, may present different external morphology of the trunk, in spite of having similar Cobb angle. Material. girls, idiopathic scoliosis, growing age (10-16 years), Cobb angle minimum 25 degrees , maximum 40 degrees . The braced group consisted of girls wearing a TLSO brace (Cheneau) for more than 6 months with minimum of 16 hours per day. The non-braced group consisted of girls first seen for their spinal deformity, previously not treated. The groups presented similar curve pattern. Methods. Scoliometer exam: angle of trunk rotation at three levels of the spine: upper thoracic, main thoracic, lumbar or thoracolumbar. The maximal angle was noted at each level and the sum of three levels was calculated. Posterior trunk symmetry index (POTSI) and Hump Sum were measured using surface topography. Cobb angle was 34.9 degrees +/- 4.8 degrees in braced and 32.7 degrees +/- 4.9 degrees in un-braced patients (difference not significant). The age was 14.1 +/- 1.6 years in braced patients and 13.1 +/- 1.9 years in un-braced group (p = 0.046). The value of angle of trunk rotation in the main curvature was 8

Adolescent idiopathic scoliosis and the single-nucleotide polymorphism of the growth hormone receptor and IGF-1 genes.

PubMed

Yang, Yong; Wu, Zhihong; Zhao, Taimao; Wang, Hai; Zhao, Dong; Zhang, Jianguo; Wang, Yipeng; Ding, Yaozhong; Qiu, Guixing

2009-06-01

The etiology of adolescent idiopathic scoliosis is undetermined despite years of research. A number of hypotheses have been postulated to explain its development, including growth abnormalities. The irregular expression of growth hormone and insulin-like growth factor-1 (IGF-1) may disturb hormone metabolism, result in a gross asymmetry, and promote the progress of adolescent idiopathic scoliosis. Initial association studies in complex diseases have demonstrated the power of candidate gene association. Prior to our study, 1 study in this field had a negative result. A replicable study is vital for reliability. To determine the relationship of growth hormone receptor and IGF-1 genes with adolescent idiopathic scoliosis, a population-based association study was performed. Single nucleotide polymorphisms with potential function were selected from candidate genes and a distribution analysis was performed. A conclusion was made confirming the insufficiency of an association between adolescent idiopathic scoliosis and the single-nucleotide polymorphism of the growth hormone receptor and IGF-1 genes in Han Chinese.

Effects of regular exercise in management of chronic idiopathic constipation.

PubMed

Meshkinpour, H; Selod, S; Movahedi, H; Nami, N; James, N; Wilson, A

1998-11-01

Regular physical exercise has long been considered in the management of chronic constipation. This recommendation is probably based on the assumption that exercise shortens the transit time through the gastrointestinal tract. However, on the basis of previous studies, the effect of exercise on the transit remains controversial at best. Therefore, it was the goal of the present study to assess the influence of regular physical exercise, what average people may consider routine exercise, in the management of chronic idiopathic constipation. The study population consisted of eight patients, seven women and a man, with chronic idiopathic constipation. They were studied for six weeks, including two weeks of rest and four weeks of regular exercise. Patients had a submaximal exercise test, before and after the exercise period, to determine their rate of perceived exertion (RPE), the target heart rate, and the intensity of exercise they can perform. In addition to their routine daily activities, they exercised 1 hr a day, five days a week according to their performance at the initial exercise tolerance test. They kept a daily activity log and maintained their normal dietary intake during this period. The patients overall physical activity was assessed by a pedometer. They also maintained a diary of the number and consistency of their bowel movements and the amount of straining required for defecation. The impact of exercise on constipation was assessed by utilizing an index that took into consideration all three parameters of bowel function. Results of the study revealed that patients covered 1.8+/-0.33 and 3.24+/-0.28 miles/day in the rest period and during the exercise period, respectively (P = 0.007). The intensity of exercise may have improved the level of training as reflected on the mean maximum time before and after exercise period (P = 0.039). This level of exercise did not improve their constipation indices, which were 9.11+/-0.65 and 8.57+/-1.08 in the rest and

Diffuse idiopathic hyperplasia of the sternocleidomastoid muscle in a child

PubMed Central

Pal, Kamalesh; Bhat, Nisar; Moghazy, Khaled; Mitra, DK; Hegazi, Mohammed

2009-01-01

Unilateral diffuse or localized enlargement of the sternocleidomastoid muscle (SCM) is an event commonly seen in infancy, and is popularly known as ‘sternocleidomastoid tumor’. The condition, which usually spontaneously resolves with or without physiotherapy, is due to a hematoma following a difficult labor. The muscle regains its elasticity and complete function. In some infants it resolves with fibromatous changes in the muscle leading to shortening, fibrosis and finally culminating in torticollis. We describe a case of idiopathic diffuse enlargement of unilateral SCM in a 12-year-old child without any functional compromise or torticollis. The histopathological and clinical characteristics differentiating it from more commonly described sternocleidomastoid tumor or fibromatosis coli are described. We believe this is the first case report of idiopathic hyperplasia of SCM. PMID:19847086

Presentation of suspected pediatric uveitis.

PubMed

Saeed, Muhammad Usman; Raza, Syed Hamid; Goyal, Sudeshna; Cleary, Gavin; Newman, William David; Chandna, Arvind

2014-01-01

Presentation of suspected pediatric uveitis: Pediatric uveitis is usually managed in specialized ophthalmic centers in the UK. Meaningful data acquisition in these clinics may be helpful in clinical governance, and healthcare planning in a specialty that is gradually changing due to changes in treatment choices. Retrospective analysis of prospectively acquired data in the Liverpool pediatric uveitis database was performed. Analysis of our data, based on 147 patients, with a mean age of 10 years, indicated a female to male ratio of 2:1. 99% of patients were Caucasian. Our data indicates 86% of all patients attending the uveitis clinic were diagnosed with juvenile idiopathic arthritis, followed by intermediate uveitis 5% and idiopathic uveitis 4%. 46% of patients required treatment. Systemic treatment included methotrexate (34%), prednisolone (14%), etanercept (6%), ciclosporin (6%), mycophenolate (3%), and infliximab (1%). Severe visual loss (defined by counting fingers or below vision) was seen in 10 eyes despite appropriately treated chronic uveitis. Our data shows uveitis-related ocular morbidity in a predominantly pediatric Caucasian population. Patients with severe and chronic uveitis may experience significant uveitis-related complications and subsequent visual loss despite aggressive treatment.

Efficacy of adalimumab in young children with juvenile idiopathic arthritis and chronic uveitis: a case series.

PubMed

La Torre, Francesco; Cattalini, Marco; Teruzzi, Barbara; Meini, Antonella; Moramarco, Fulvio; Iannone, Florenzo

2014-05-24

Juvenile idiopathic arthritis is a relatively common chronic disease of childhood, and is associated with persistent morbidity and extra-articular complications, one of the most common being uveitis. The introduction of biologic therapies, particularly those blocking the inflammatory mediator tumor necrosis factor-α, provided a new treatment option for juvenile idiopathic arthritis patients who were refractory to standard therapy such as non-steroidal anti-inflammatory drugs, corticosteroids and/or methotrexate. The first case was a 2-year-old girl with juvenile idiopathic arthritis and uveitis who failed to respond to treatment with anti-inflammatories, low-dose corticosteroids and methotrexate, and had growth retardation. Adalimumab 24 mg/m2 every 2 weeks and prednisone 0.5 mg/kg/day were added to methotrexate therapy; steroid tapering and withdrawal started after 1 month. After 2 months the patient showed good control of articular and ocular manifestations, and she remained in remission for 1 year, receiving adalimumab and methotrexate with no side effects, and showing significant improvement in growth. Case 2 was a 9-year-old boy with an 8-year history of juvenile idiopathic arthritis and uveitis that initially responded to infliximab, but relapse occurred after 2 years off therapy. After switching to adalimumab, and adjusting doses of both adalimumab and methotrexate based on body surface area, the patient showed good response and corticosteroids were tapered and withdrawn after 6 months; the patient remained in remission taking adalimumab and methotrexate. The final case was a 5-year-old girl with juvenile idiopathic arthritis for whom adalimumab was added to methotrexate therapy after three flares of uveitis. The patient had two subsequent episodes of uveitis that responded well to local therapy, but was then free of both juvenile idiopathic arthritis and uveitis symptoms, allowing methotrexate and then adalimumab to be stopped; the patient remained in drug

Idiopathic multiple impacted unerupted teeth: Case report and discussion

PubMed Central

Sujatha, G; Sivapathasundharam, B; Sivakumar, G; Nalinkumar, S; Ramasamy, M; Prasad, T Srinivasa

2012-01-01

Multiple impacted permanent teeth are usually related to syndromes, metabolic and hormonal disorders. However, in some cases, impaction of multiple teeth is not associated with any syndrome. In this report, we present a case of 17-year-old male patient with missing teeth. Radiographs revealed multiple impacted permanent teeth, though medical and family history along with physical examination was not suggestive of any syndromes. If other investigations are negative, an idiopathic case of multiple impacted teeth is suggested to be the possible diagnosis. The objective of this report is to increase awareness of such cases especially in the absence of hereditary/genetic/metabolic factors usually inherent in such scenarios. The patient management in such cases needs to be planned specifically from a multidisciplinary standpoint. PMID:22438652

Sporadic inclusion body myositis misdiagnosed as idiopathic granulomatous myositis.

PubMed

Lavian, Monica; Goyal, Namita; Mozaffar, Tahseen

2016-11-01

We present a case of a 65-year-old woman who was previously diagnosed with idiopathic granulomatous myositis and treated with immunosuppressive therapy for the next 10 years before a clinical diagnosis of inclusion body myositis was made. A review of the previously performed muscle biopsy showed most of the cardinal myopathologic features of sporadic inclusion body myositis, in addition to the granuloma. Her clinical course was strongly suggestive of inclusion body myositis with selective asymmetric weakness of forearm flexor muscles and quadriceps. This report highlights the importance of correlating clinical picture with muscle pathology changes along with judicious use of magnetic resonance imaging and serological studies to establish a definite diagnosis. Copyright © 2016 Elsevier B.V. All rights reserved.

Can digit ratio (2D:4D) studies be helpful in explaining the aetiology of idiopathic gynecomastia?

PubMed

Kasielska-Trojan, Anna; Antoszewski, Bogusław

2015-01-01

Aetiology of idiopathic form of gynecomastia is unknown and it has not been established if it is related to factors present at the prenatal period or if it is caused by yet unidentified environmental conditions. The aim of this study is to compare digit ratio (2D:4D) in men with idiopathic gynecomastia and unaffected male and female controls from the general population. The study involved 250 subjects (50 men with idiopathic gynecomastia, 100 control men and 100 control women). Eight measurements were taken: body height, waist and hip circumferences, II and IV digits' lengths (right and left), and body weight, and 4 indices were calculated: BMI, WHR, and 2D:4D for the right and left hand. 2D:4D in men with gynecomastia ([median (I-III quartiles)]: 1.03 (1.01-1.04) for right hand and 1.03 (1.01-1.03) for left hand) was significantly different than the ratio in control men [0.97 (0.95-0.99)] for right and left hand) (p<0.0001) and similar to the ratio found in control women [1.02 (1-1.03)] for right and left hand) (p=1). Men with gynecomastia were characterized with higher values of the following variables: weight, waist and hip circumferences, BMI and WHR. Their body height was significantly greater than in women (p<0.0001) but similar to the values observed in control men (p=0.2687). The findings presented in this study may influence the aetiology-related classification of gynecomastia and justify introducing the new group: "gynecomastia related to the prenatal sex hormones disturbances". Copyright © 2014 Elsevier Ireland Ltd. All rights reserved.

Spinal alignment in surgical, multisegmental, transpedicular correction of adolescent idiopathic scoliosis

PubMed Central

Nowakowski, Andrzej; Dworak, Lechosław B.; Kubaszewski, Łukasz; Kaczmarczyk, Jacek

2012-01-01

Summary The objective of this study was to discuss the variables influencing alignment mechanisms of the spine, with particular consideration of post-surgical alignment in adolescent idiopathic scoliosis. The analysis is based on information currently available in the literature, and on the authors’ own experience, which includes surgical material from over 2200 cases of idiopathic scoliosis. Over 50% of cases of adolescent idiopathic scoliosis are decompensated before surgical treatment. Spinal alignment is most significantly influenced by the position of the pelvis. Surgical restoration of lumbar lordosis is more important than attempting to restore thoracic kyphosis in the sagittal plane. The sagittal profile has an essential impact on spinal alignment. The same curves in the coronal plane can have various 3-dimensional configurations. Clinical difficulties in the assessment of thoracic kyphosis and lumbar lordosis result from the fact that they undergo constant change with age. Thoracic hypokyphosis diagnosed before surgery is a very frequent symptom of curve progression. The presence of proximal (thoraco-thoracic) and distal (thoraco-lumbar) junctional kyphosis is very important for planning the scope of spondylodesis. The natural tendency of the spine for alignment (compensation) after surgery nowadays occurs more naturally by applying derotational forces through pedicle screws, compared to the distraction devices (eg, Harrington rod) used in the past. PMID:23229319

PRSS1 and SPINK1 mutations in idiopathic chronic and recurrent acute pancreatitis.

PubMed

Pelaez-Luna, Mario; Robles-Diaz, Guillermo; Canizales-Quinteros, Samuel; Tusié-Luna, Maria T

2014-09-07

To identify gene mutations in PRSS1 and SPINK1 in individuals with early onset idiopathic chronic or recurrent acute pancreatitis. The cationic trypsinogen gene (PRSS1; exons 2 and 3) and the serine protease inhibitor Kazal 1 gene (SPINK1; exon 3) were selectively amplified and sequenced from blood samples of 19 patients admitted to the Pancreas Clinic at our institution with chronic pancreatitis and/or idiopathic recurrent acute pancreatitis that were diagnosed or with onset before age 35. Fifty healthy volunteers served as controls. Whole blood samples were collected and gene specific sequences were amplified by polymerase chain reaction (PCR). All PCR products were subsequently sequenced in order to identify the presence of any mutations. Nineteen patients with pancreatitis (14 males; median age 24 years, range 15-48 years) were included in this study, of which five showed the presence of gene mutations. Direct sequencing results indicated the presence of two previously unidentified mutations in exon 2 of PRSS1 (V39E and N42S) in two patients with recurrent acute pancreatitis. Two cases had the N34S SPINK1 mutation. Analysis of the relatives of one patient homozygous for this mutation showed that five of the six family members carried the N34S SPINK1 mutation. Of these members, three were healthy heterozygous carriers and two were homozygotes (one sibling had diabetes, the other was healthy). Another patient was heterozygous for a novel SPINK1 mutation located on exon 3 (V46D). All members from this patient's family had normal genotypes, indicating that it was a de novo mutation. No mutations in either gene were present in the control subjects. Two novel PRSS1 mutations and one novel SPINK1 mutation were identified in Mexican patients with early onset idiopathic recurrent acute pancreatitis.

Flow void of cerebrospinal fluid in idiopathic normal pressure hydrocephalus of the elderly: can it predict outcome after shunting?

PubMed

Krauss, J K; Regel, J P; Vach, W; Jüngling, F D; Droste, D W; Wakhloo, A K

1997-01-01

We investigate the predictive value of cerebrospinal fluid (CSF) flow void on outcome after shunting in a prospective series of patients with idiopathic normal pressure hydrocephalus (NPH). The degree and extension of CSF flow void were examined on T2-weighted magnetic resonance imaging scans of 37 elderly patients with idiopathic NPH who underwent subsequent shunting. The degree of flow void was assessed in comparison with the signal of large cerebral arteries. The extension was evaluated via the calculation of sum scores for the occurrence of flow void in different locations of the ventricular system. Those parameters were not considered in the decision to perform shunting. CSF flow void in the aqueduct and the adjacent third and fourth ventricles of the 37 patients with idiopathic NPH was compared with that of 37 age-matched control patients. CSF flow void scores in patients with idiopathic NPH were investigated for correlations between postoperative outcome scores and ventricular width indices. No difference was found between the occurrence of aqueductal CSF flow void in patients with idiopathic NPH and the control group. A significant difference, however, was noted for the extension of the CSF flow void, which was greater in the NPH group. Postoperative improvement was found in 33 of 37 patients with idiopathic NPH at a mean follow-up of 15.6 months. Only small, statistically not significant correlations were found between CSF flow void and postoperative outcome. Flow void sum scores, however, correlated significantly with ventricular width indices. The degree and extension of CSF flow void on T2-weighted magnetic resonance imaging scans have little predictive value for outcome after shunting in patients with idiopathic NPH. The greater extension of the CSF flow void in patients with NPH is most likely related to increased ventricular width. It is not useful to consider CSF flow void findings on conventional magnetic resonance imaging scans in making the

Idiopathic Non-traumatic Facial Nerve Palsy (Bell’s Palsy) in Neonates; An Atypical Age and Management Dilemma

PubMed Central

Khair, Abdulhafeez M.; Ibrahim, Khalid

2018-01-01

Idiopathic (Bell’s) palsy is the commonest cause of unilateral facial paralysis in children. Although being idiopathic by definition, possible infectious, inflammatory, and ischemic triggers have been suggested. Bell’s palsy is thought to be responsible for up to three-fourths of cases of acute unilateral facial paralysis worldwide. The diagnosis has to be reached after other causes of acute peripheral palsy have been excluded. However, it is rarely described in neonates and young infants. Steroids may have some role in treatment, but antiviral therapies have doubtful evidence of benefit. Prognosis is good, though residual dysfunction is occasionally encountered. We report the case of a two-week-old neonate with no prior illnesses who presented with acute left facial palsy. Clinical findings and normal brain imaging were consistent with the diagnosis of Bell’s palsy. The patient had a good response to oral steroids. PMID:29468002

Associations of specific psychiatric disorders with isolated focal dystonia, and monogenic and idiopathic Parkinson's disease.

PubMed

Steinlechner, Susanne; Hagenah, Johann; Rumpf, Hans-Jürgen; Meyer, Christian; John, Ulrich; Bäumer, Tobias; Brüggemann, Norbert; Kasten, Meike; Münchau, Alexander; Klein, Christine; Lencer, Rebekka

2017-06-01

Comorbidity of psychiatric disorders in patients with movement disorders is common. Often, psychiatric symptoms manifest before the onset of the movement disorder, thus not representing a mere reaction to its burden. How the disease mechanisms of psychiatric and movement disorders are related is still poorly understood. The aim of the present study was to compare prevalence rates of specific psychiatric disorders between different movement disorders including isolated focal dystonia (IFD, N = 91), monogenic Parkinson's disease (PD, N = 41), idiopathic PD (N = 45), and a sample from a Northern Germany general population (TACOS Study; N = 4075). Our results indicate an odds ratio (OR) of 2.6 [confidence interval (CI) 1.7-4.0] for general axis I disorders in IFD, an OR of 2.5 (CI 1.4-4.7) in monogenic PD, and an OR of 1.4 (CI 0.8-2.6) in idiopathic PD. More specifically, the monogenic PD group showed the highest ORs for affective disorders including depression (OR = 4.9), bipolar disorder (OR = 17.4), and hypomanic episodes (OR = 17.0), whereas IFD expressed the highest rates of anxiety disorders (OR = 3.3). Psychotic symptoms were only observed in the PD groups but not in IFD. Our findings underline the notion that psychiatric disorders are part of the phenotypic spectrum of movement disorders. Moreover, they suggest that IFD, monogenic PD, and idiopathic PD are associated with specific psychiatric disorders indicating disturbances in a different neural circuitry for sensorimotor control.

CSF Histamine Contents in Narcolepsy, Idiopathic Hypersomnia and Obstructive Sleep Apnea Syndrome

PubMed Central

Kanbayashi, Takashi; Kodama, Tohru; Kondo, Hideaki; Satoh, Shinsuke; Inoue, Yuichi; Chiba, Shigeru; Shimizu, Tetsuo; Nishino, Seiji

2009-01-01

Study Objective: To (1) replicate our prior result of low cerebrospinal fluid (CSF) histamine levels in human narcolepsy in a different sample population and to (2) evaluate if histamine contents are altered in other types of hypersomnia with and without hypocretin deficiency. Design: Cross sectional studies. Setting and Patients: Sixty-seven narcolepsy subjects, 26 idiopathic hypersomnia (IHS) subjects, 16 obstructive sleep apnea syndrome (OSAS) subjects, and 73 neurological controls were included. All patients were Japanese. Diagnoses were made according to ICSD-2. Results: We found significant reductions in CSF histamine levels in hypocretin deficient narcolepsy with cataplexy (mean ± SEM; 176.0 ± 25.8 pg/mL), hypocretin non-deficient narcolepsy with cataplexy (97.8 ± 38.4 pg/mL), hypocretin non-deficient narcolepsy without cataplexy (113.6 ± 16.4 pg/mL), and idiopathic hypersomnia (161.0 ± 29.3 pg/mL); the levels in OSAS (259.3 ± 46.6 pg/mL) did not statistically differ from those in the controls (333.8 ± 22.0 pg/mL). Low CSF histamine levels were mostly observed in non-medicated patients; significant reductions in histamine levels were evident in non-medicated patients with hypocretin deficient narcolepsy with cataplexy (112.1 ± 16.3 pg/mL) and idiopathic hypersomnia (143.3 ± 28.8 pg/mL), while the levels in the medicated patients were in the normal range. Conclusion: The study confirmed reduced CSF histamine levels in hypocretin-deficient narcolepsy with cataplexy. Similar degrees of reduction were also observed in hypocretin non-deficient narcolepsy and in idiopathic hypersomnia, while those in OSAS (non central nervous system hypersomnia) were not altered. The decrease in histamine in these subjects were more specifically observed in non-medicated subjects, suggesting CSF histamine is a biomarker reflecting the degree of hypersomnia of central origin. Citation: Kanbayashi T; Kodama T; Kondo H; Satoh S; Inoue Y; Chiba S; Shimizu T; Nishino S. CSF

CONTRAIS: CONservative TReatment for Adolescent Idiopathic Scoliosis: a randomised controlled trial protocol.

PubMed

Abbott, Allan; Möller, Hans; Gerdhem, Paul

2013-09-05

Idiopathic scoliosis is a three-dimensional structural deformity of the spine that occurs in children and adolescents. Recent reviews on bracing and exercise treatment have provided some evidence for effect of these interventions. The purpose of this study is to improve the evidence base regarding the effectiveness of conservative treatments for preventing curve progression in idiopathic scoliosis. Previously untreated girls and boys with idiopathic scoliosis, 9 to 17 years of age with at least one year of remaining growth and a curve Cobb angle of 25-40 degrees will be included. A total of 135 participants will be randomly allocated in groups of 45 patients each to receive one of the three interventions. All three groups will receive a physical activity prescription according to the World Health Organisation recommendations. One group will additionally wear a hyper-corrective night-time brace. One group will additionally perform postural scoliosis-specific exercises. Participation in the study will last until the curve has progressed, or until cessation of skeletal growth. OUTCOME variables will be measured every 6 months. The primary outcome variable, failure of treatment, is defined as progression of the Cobb angle more than 6 degrees, compared to the primary x-ray, seen on two consecutive spinal standing x-rays taken with 6 months interval. Secondary outcome measures include the SRS-22r and EQ5D-Y quality of life questionnaires, the International Physical Activity Questionnaire (IPAQ) short form, and Cobb angle at end of the study. This trial will evaluate which of the tested conservative treatment approaches that is the most effective for patients with adolescent idiopathic scoliosis. NCT01761305.

Eliminating the use of allogeneic blood products in adolescent idiopathic scoliosis surgery.

PubMed

Berney, Mark J; Dawson, Peter H; Phillips, Margaret; Lui, Darren F; Connolly, Paul

2015-07-01

The aim of this study was to compare transfusion requirements in patients before and after the introduction of tranexamic acid as standard in patients undergoing spinal surgery for idiopathic scoliosis in a national orthopaedic hospital. A retrospective chart review of 56 idiopathic scoliosis patients who underwent posterior spinal instrumentation and fusion between 2009 and 2013 at our institution. Preoperative, intraoperative, and postoperative data were measured. Patients who received tranexamic acid as standard (n = 31) showed a trend towards a decrease in transfusion requirements compared with those who received no tranexamic acid (n = 25). These patients had a statistically significant decrease in operative time (223 vs 188 min, p = 0.005), and estimated intraoperative blood loss was reduced by nearly 50% in the tranexamic acid group. They also had an associated reduced decrease in haemoglobin between preoperative and postoperative levels (4 vs 5 g/dL, p = 0.01). Since February 2012, no patient has required intraoperative or postoperative allogeneic blood product transfusion in this hospital. The routine use of antifibrinolytic medications in patients undergoing surgery for adolescent idiopathic scoliosis has effectively eliminated the need for allogeneic blood products.

Associations Between Neuropsychological, Neurobehavioral and Emotional Functioning and Either Narcolepsy or Idiopathic Hypersomnia in Children and Adolescents.

PubMed

Ludwig, Beris; Smith, Simon; Heussler, Helen

2018-04-15

Narcolepsy and idiopathic hypersomnia are chronic neurological sleep disorders characterized by hypersomnolence or excessive daytime sleepiness. This review aims to systematically examine the scientific literature on the associations between narcolepsy and idiopathic hypersomnia and their effect on intellectual functioning, academic achievement, behavior, and emotion. Published studies that examined those associations in children and adolescents were included. Studies in which children or adolescents received a clinical diagnosis, and in which the associated function was measured with at least one objective instrument were included. Twenty studies published between 1968 and 2017 were eligible for inclusion in this review. There does not appear to be a clear association between intellectual functioning and narcolepsy or idiopathic hypersomnia; however, limited research is an obstacle to obtaining generalizability. The variability in results from studies investigating associations between academic achievement and these two hypersomnolence disorders suggests that further research using standardized and validated assessment instruments is required to determine if there is an association. Behavior and emotion appear to be significantly affected by narcolepsy. Only two studies included populations of children and adolescents with idiopathic hypersomnia. Further research using larger populations of children and adolescents with narcolepsy or idiopathic hypersomnia while utilizing standardized and validated instruments is required, because the effect of these conditions of hypersomnolence varies and is significant for each individual. © 2018 American Academy of Sleep Medicine.

Anti-TNF therapy for juvenile idiopathic arthritis-related uveitis

PubMed Central

Semeraro, Francesco; Arcidiacono, Barbara; Nascimbeni, Giuseppe; Angi, Martina; Parolini, Barbara; Costagliola, Ciro

2014-01-01

Juvenile idiopathic arthritis-related uveitis is the most common type of uveitis in childhood and one of the main causes of visual impairment in children. The introduction of biological treatment has widened the range of therapeutic options for children with uveitis refractory to standard nonbiologic immunosuppressants. Data from clinical trials suggest that both adalimumab and infliximab have demonstrated effectiveness and safety in open-label studies, although no large, randomized, controlled trials have been reported so far. The role of etanercept in treating juvenile idiopathic arthritis-related uveitis is not yet well defined. In our experience, anti-tumor necrosis factor therapy has been shown to be more effective than steroids and/or methotrexate in treating uveitis. Up to now, tumor necrosis factor blocking compounds have been reserved for the treatment of the most severe cases of refractory uveitis, and larger prospective clinical trials are required in order to better assess the safety of these new compounds. PMID:24711694

Anti-TNF therapy for juvenile idiopathic arthritis-related uveitis.

PubMed

Semeraro, Francesco; Arcidiacono, Barbara; Nascimbeni, Giuseppe; Angi, Martina; Parolini, Barbara; Costagliola, Ciro

2014-01-01

Juvenile idiopathic arthritis-related uveitis is the most common type of uveitis in childhood and one of the main causes of visual impairment in children. The introduction of biological treatment has widened the range of therapeutic options for children with uveitis refractory to standard nonbiologic immunosuppressants. Data from clinical trials suggest that both adalimumab and infliximab have demonstrated effectiveness and safety in open-label studies, although no large, randomized, controlled trials have been reported so far. The role of etanercept in treating juvenile idiopathic arthritis-related uveitis is not yet well defined. In our experience, anti-tumor necrosis factor therapy has been shown to be more effective than steroids and/or methotrexate in treating uveitis. Up to now, tumor necrosis factor blocking compounds have been reserved for the treatment of the most severe cases of refractory uveitis, and larger prospective clinical trials are required in order to better assess the safety of these new compounds.

Fulminant idiopathic intracranial hypertension and venous stasis retinopathy resulting in severe bilateral visual impairment.

PubMed

Voldman, Alexander; Durbin, Breanna; Nguyen, John; Ellis, Brian; Leys, Monique

2017-03-10

To report a complicated case of fulminant idiopathic intracranial hypertension and concomitant venous stasis retinopathy leading to postpapilledema optic atrophy. Case report. A 34-year-old morbidly obese woman with a history of idiopathic intracranial hypertension (IIH) presented with a 1-month history of bilateral vision loss, diplopia, and left eye pain after being lost to follow-up for 6 years. Fundus examination revealed florid papilledema with venous tortuosity bilaterally. Brain and orbit magnetic resonance imaging showed bilateral globe flattening, intraocular optic nerve swelling in both eyes, and no abnormality on magnetic resonance venography. After additional workup including lumbar puncture with an opening pressure of 55 cm H2O, a diagnosis of IIH was confirmed. Medical treatment with oral carbonic anhydrase inhibitors was initiated, followed by same-day bilateral optic nerve sheath decompression and ventriculoperitoneal shunt placement the following week. Fundus examination 2 months later revealed a persistent blood and thunder fundus suggestive of bilateral central retinal vein occlusions. Over the course of 6 months, both eyes displayed postpapilledema optic atrophy with light perception and hand motion vision in the right and left eyes, respectively. On Goldmann perimetry, the patient had vague limited isolated responses in both eyes to the largest target. Fulminant IIH can present with profoundly blinding complications recalcitrant to aggressive medical and surgical intervention. Central retinal vein occlusion is an uncommon blinding complication of IIH.

Efficacy of high-dose intravenous immunoglobulins in two patients with idiopathic recurrent pericarditis refractory to previous immunosuppressive treatment.

PubMed

Tona, Francesco; Bellotto, Fabio; Laveder, Francesco; Meneghin, Alessia; Sinagra, Gianfranco; Marcolongo, Renzo

2003-01-01

Although idiopathic acute pericarditis is usually a self-limiting disease, in many patients it may recur over a period of months or years. Even if some evidence seems to suggest the possible role of a deranged immune reactivity in the pathogenesis of idiopathic recurrent pericarditis, the etiology of the disease is still unknown. Furthermore, while some trial data confirm the usefulness of colchicine, its medical treatment is not yet clearly established. We here report the clinical history of 2 patients with idiopathic recurrent pericarditis resistant to prednisone, colchicine and other immunosuppressive drugs, who have been successfully treated with high-dose intravenous immunoglobulins.

Long-term follow-up of amitriptyline treatment for idiopathic cough.

PubMed

Ryan, Marisa A; Cohen, Seth M

2016-12-01

To evaluate short- and long-term treatment outcomes of amitriptyline for idiopathic cough. Retrospective chart review and anonymous survey of a patient cohort. We evaluated a cohort of adults treated for cough at the Duke Voice Care Center with amitriptyline over a 2- to 3-year period. We characterized demographics, symptoms, treatment variability, and treatment effects from chart review and survey responses. We performed univariate analysis comparing cough improvement to age, gender, symptoms of throat irritation, cough duration, concurrent speech therapy, and dosage. Eighty-nine percent were taking the medication at the first clinical follow-up at a mean 2.6 months, and overall, 67% reported ≥50% improvement. No statistically significant predictors of cough improvement with medication were identified. At follow-up 2 to 3 years later, overall, 53% reported ≥50% improvement, with only 34% of patients still taking amitriptyline. After 2 to 3 years, 65% of patients had titrated the medication to effect, and 33% restarted the medication. Occurrence of side effects was the most frequent reason for stopping the medication. Amitriptyline can be an effective and well-tolerated part of short- and long-term management of idiopathic cough in adults. Titrating the dose and restarting are often necessary. Larger studies and randomized control trials are needed to better understand the outcomes of using amitriptyline to treat idiopathic cough. 4 Laryngoscope, 126:2758-2763, 2016. © 2016 The American Laryngological, Rhinological and Otological Society, Inc.

Western blot immunoassay for HSP-70 antibodies in idiopathic tinnitus: a preliminary report.

PubMed

Savastano, Marina; Celadin, Marilena; Pittoni, Marina; Plebani, Mario; Marioni, Gino

2006-03-01

Our preliminary study investigated the role of nonspecific immunologic tests and immunoassay for heat shock protein 70 (HSP-70) in supporting the possibility of an autoimmune inner ear process determining idiopathic tinnitus. Thirty-six consecutive patients with idiopathic tinnitus without other otologic or autoimmune diseases and 20 healthy blood donor subjects underwent determinations of circulating immune complexes (CICs) and other nonspecific immunologic factors and immunoassay for HSP-70. The mean CIC values were 4.2 microg/mL in the tinnitus patients and 0.9 microg/mL in the control group (p = .012). Thirteen of the 36 tinnitus patients and none of the control group were HSP-70-positive. Ten of the 13 HSP-70-positive patients had CIC values higher than normal. In the tinnitus group, the mean CIC values were 6.9 microg/mL and 2.6 microg/mL in the HSP-70-positive and -negative subgroups, respectively (p = .024). It may be hypothesized that in a significant number of cases, idiopathic tinnitus could be induced by immune response to inner ear-specific HSP-70.

Prognostic value of cardiovascular magnetic resonance imaging measurements corrected for age and sex in idiopathic pulmonary arterial hypertension.

PubMed

Swift, Andrew J; Rajaram, Smitha; Campbell, Michael J; Hurdman, Judith; Thomas, Steve; Capener, Dave; Elliot, Charlie; Condliffe, Robin; Wild, Jim M; Kiely, David G

2014-01-01

There are limited data on the prognostic value of cardiovascular magnetic resonance measurements in idiopathic pulmonary arterial hypertension, with no studies investigating the impact of correction of cardiovascular magnetic resonance indices for age and sex on prognostic value. Consecutive patients with idiopathic pulmonary arterial hypertension underwent cardiovascular magnetic resonance imaging at 1.5T. Steady-state free precession cardiac volumes and mass measurements were corrected for age, sex, and body surface area according to reference data and prognostic significance assessed. A total of 80 patients with idiopathic pulmonary arterial hypertension were identified, and 23 patients died during the mean follow-up of 32±14 months. Corrected for age, sex, and body surface area, right ventricular end-systolic volume (P=0.004) strongly predicted mortality, independent of World Health Organization functional class, mean right atrial pressure, cardiac index, and mixed venous oxygen saturations. Consideration should be given to correcting cardiovascular magnetic resonance measures for age, sex, and body surface area, particularly given the changing demographics of patients with idiopathic pulmonary arterial hypertension. Corrected right ventricular end-systolic volume is a strong prognostic marker in idiopathic pulmonary arterial hypertension, independent of invasively derived measurements, mean right atrial pressure cardiac index, and mixed venous oxygen saturations.

Brain tissue water content in patients with idiopathic normal pressure hydrocephalus.

PubMed

Aygok, G; Marmarou, A; Fatouros, P; Young, H

2006-01-01

Relatively little is known regarding the water content of brain tissue in idiopathic normal-pressure hydrocephalus (NPH) patients. The objective of our study was to determine absolute water content non-invasively in hydrocephalic patients, particularly in the anterior and posterior ventricular horns and in the periventricular white matter. Ten patients who were diagnosed and treated for idiopathic NPH in our clinic were selected for study. Magnetic resonance imaging (MRI) techniques were used to obtain anatomical image slices for quantitative brain water measurements. Apparent diffusion coefficient measures were also extracted from regions of interest. To our knowledge, this is the first study to confirm that periventricular lucency seen on MRI represents increased water content in the extracellular space that is markedly elevated prior to shunting.

Observation and Early Intervention in Mild Idiopathic Scoliosis via Corrective Exercises in Growing Children.

PubMed

Sy, Ng

2016-01-01

Idiopathic scoliosis afflicts 2-3% of the population. For mild curvatures, observation is the treatment of choice. Though this passive "wait and see" approach has been used for many years, the practice is inconsistent among different countries. In Anglo-Saxon countries where scoliosis specific exercises are not practised, observation is indicated for curvatures below 25° in growing children and adolescents. In countries, such as France, Germany, Italy and Poland where scoliosis specific corrective exercises are employed, only patients with no signs of maturity and with curvatures below 15° are treated by observation. Patients with curvatures between 15 - 25° are treated by scoliosis specific exercises. In view of the unpredictability of the progression of scoliosis curvatures in immature patients and the lack of knowledge of long term biomechanical repercussions of mild idiopathic scoliosis on lumbar spine and lower extremities, it is proposed that active intervention through scoliosis specific exercises rather than passive observation be employed in the treatment of mild adolescent idiopathic scoliosis.

Facial morphology in children and adolescents with juvenile idiopathic arthritis and moderate to severe temporomandibular joint involvement.

PubMed

Hsieh, Yuh-Jia; Darvann, Tron A; Hermann, Nuno V; Larsen, Per; Liao, Yu-Fang; Bjoern-Joergensen, Jens; Kreiborg, Sven

2016-02-01

The aims of this study were to (1) assess lateral facial morphology in children and adolescents with juvenile idiopathic arthritis and moderate to severe temporomandibular joint (TMJ) involvement, (2) compare the lateral facial morphology of these subjects with and without TMJ involvement using cephalograms and 3-dimensional (3D) facial photographs, and (3) compare and correlate the results of the 3D photographic and cephalometric analyses. Sixty patients with juvenile idiopathic arthritis were included and grouped as follows: group 1, juvenile idiopathic arthritis patients without TMJ involvement; group 2, juvenile idiopathic arthritis patients with moderate to severe unilateral TMJ involvement; and group 3, juvenile idiopathic arthritis patients with moderate to severe bilateral TMJ involvement. Lateral cephalograms were used to assess and compare lateral facial morphologies between the groups. Lateral projections of oriented 3D photographs were superimposed on the lateral cephalograms. The results of the lateral 3D photographic analysis were correlated with those of lateral cephalometric analysis. Group 3 showed the most severe growth disturbances, including more retrognathic mandible and retruded chin, steep occlusal and mandibular planes, and more hyperdivergent type (P <0.01). Group 2 showed similar growth disturbances, but to a lesser extent than did group 3. Photographic variables were significantly correlated with the soft tissue and skeletal variables of cephalograms (0.5 < r < 0.9; P <0.001). Subjects with juvenile idiopathic arthritis and unilateral or bilateral moderate to severe TMJ involvement had significant growth disturbances. Early intervention is recommended for these patients to prevent unfavorable facial development. Furthermore, with proper orientation, 3D photographs can be used as an alternative to conventional lateral cephalograms and 2-dimensional photographs. Copyright © 2016 American Association of Orthodontists. Published by Elsevier

Surgical management of idiopathic normal-pressure hydrocephalus.

PubMed

Bergsneider, Marvin; Black, Peter McL; Klinge, Petra; Marmarou, Anthony; Relkin, Norman

2005-09-01

To develop evidence-based guidelines for surgical management of idiopathic normal-pressure hydrocephalus (INPH). Compared with the diagnostic phase, the surgical management of INPH has received less scientific attention. The quality of much of the literature concerning the surgical management has been limited by many factors. These include retrospective analysis, small patient numbers, analysis of a mixed NPH population, and sometimes a lack of detail as to what type of shunt system was used. Many earlier studies predated our current understanding of the hydrodynamics of cerebrospinal fluid shunts, and therefore, the conclusions drawn may no longer be valid. A MEDLINE and PubMed search from 1966 to the present was conducted using the following key terms: normal-pressure hydrocephalus and idiopathic adult-onset hydrocephalus. Only English-language literature in peer-reviewed journals was reviewed. The search was further limited to articles that described the method of treatment and outcome selectively for INPH patients. Finally, only studies that included 20 or more INPH patients were considered with respect to formulating the recommendations in these Guidelines (27 articles). For practical reasons, it is important to identify probable shunt responders diagnosed with INPH. If the patient is an acceptable candidate for anesthesia, then an INPH-specific risk-benefit analysis should be determined. In general, patients exhibiting negligible symptoms may not be suitable candidates for surgical management, given the known risks and complications associated with shunting INPH. The choice of valve type and setting should be based on empirical reasoning and a basic understanding of shunt hydrodynamics. The most conservative choice is a valve incorporating an antisiphon device, with the understanding that underdrainage (despite a low opening pressure) may occur in a small percentage of patients because of the antisiphon device. On the basis of retrospective studies, the use

with idiopathic chronic malnutrition

PubMed

Acar, Sezer; Çatlı, Gönül; Küme, Tuncay; Tuhan, Hale; Gürsoy Çalan, Özlem; Demir, Korcan; Böber, Ece; Abacı, Ayhan

2018-04-30

Background/aim: Nesfatin-1, an anorexigenic molecule, seems to play a role in appetite regulation and energy homeostasis. The goal of this study was to evaluate the relation of nesfatin-1 with anthropometric and metabolic (ghrelin, leptin) parameters in children with idiopathic chronic malnutrition. Materials and methods: The study included 37 underweight and 38 healthy children who were similar regarding age, sex, and pubertal status. Anthropometric and biochemical (nesfatin-1, ghrelin, and leptin levels) variables were assessed. Results: A total of 37 underweight subjects (mean age 10.5 ± 2.6 years) and 38 heathy subjects (mean age 10.3 ± 2.3 years) were recruited. Underweight children had significantly higher nesfatin-1 (2.76 ± 0.4 vs. 1.56 ± 0.7, P < 0.001) and lower leptin levels (2.21 ± 2.0 vs. 5.21 ± 2.4, P < 0.001) than those of the control subjects. Nesfatin-1 levels were significantly associated with only leptin levels, after adjusting for age and BMI (r = –0.371, P = 0.001). Conclusion: The present study is the first to evaluate nesfatin-1 levels in relation with anthropometric and metabolic parameters in children with chronic malnutrition, who were subsequently found to have significantly higher nesfatin-1 levels. Our study underlines that nesfatin-1 may play a role in the development of malnutrition by inhibiting food intake in children.

Manual therapy as a conservative treatment for adolescent idiopathic scoliosis: a systematic review

PubMed Central

Romano, Michele; Negrini, Stefano

2008-01-01

Background The treatment of adolescent idiopathic scoliosis is contingent upon many variables. Simple observation is enough for less serious curvatures, but for very serious cases surgical intervention could be proposed. Between these there is a wide range of different treatments. Manual therapy is commonly used: the aim of this paper is to verify the data existing in the literature on the efficacy of this approach. Methods A systematic review of the scientific literature published internationally has been performed. We have included in the term manual therapy all the manipulative and generally passive techniques performed by an external operator. In a more specific meaning, osteopathic, chiropractic and massage techniques have been considered as manipulative therapeutic methods. We performed our systematic research in Medline, Embase, Cinhal, Cochrane Library, Pedro with the following terms: idiopathic scoliosis combined with chiropractic; manipulation; mobilization; manual therapy; massage; osteopathy; and therapeutic manipulation. The criteria for inclusion were as follows: Any kind of research; diagnosis of adolescent idiopathic scoliosis; patients treated exclusively by one of the procedures established as a standard for this review (chiropractic manipulation, osteopathic techniques, massage); and outcome in Cobb degrees. Results We founded 145 texts, but only three papers were relevant to our study. However, no one of the three satisfied all the required inclusion criteria because they were characterized by a combination of manual techniques and other therapeutic approaches. Conclusion The lack of any kind of serious scientific data does not allow us to draw any conclusion on the efficacy of manual therapy as an efficacious technique for the treatment of Adolescent idiopathic scoliosis. PMID:18211702

Manual therapy as a conservative treatment for adolescent idiopathic scoliosis: a systematic review.

PubMed

Romano, Michele; Negrini, Stefano

2008-01-22

The treatment of adolescent idiopathic scoliosis is contingent upon many variables. Simple observation is enough for less serious curvatures, but for very serious cases surgical intervention could be proposed. Between these there is a wide range of different treatments. Manual therapy is commonly used: the aim of this paper is to verify the data existing in the literature on the efficacy of this approach. A systematic review of the scientific literature published internationally has been performed. We have included in the term manual therapy all the manipulative and generally passive techniques performed by an external operator. In a more specific meaning, osteopathic, chiropractic and massage techniques have been considered as manipulative therapeutic methods. We performed our systematic research in Medline, Embase, Cinhal, Cochrane Library, Pedro with the following terms: idiopathic scoliosis combined with chiropractic; manipulation; mobilization; manual therapy; massage; osteopathy; and therapeutic manipulation. The criteria for inclusion were as follows: Any kind of research; diagnosis of adolescent idiopathic scoliosis; patients treated exclusively by one of the procedures established as a standard for this review (chiropractic manipulation, osteopathic techniques, massage); and outcome in Cobb degrees. We founded 145 texts, but only three papers were relevant to our study. However, no one of the three satisfied all the required inclusion criteria because they were characterized by a combination of manual techniques and other therapeutic approaches. The lack of any kind of serious scientific data does not allow us to draw any conclusion on the efficacy of manual therapy as an efficacious technique for the treatment of Adolescent idiopathic scoliosis.

A rare case of idiopathic thumb CMC joint neuropathic arthropathy complicated by blunt trauma.

PubMed

Singh, Manavdeep; Butala, R R; Khedekar, R G; Tripati, Manish

2016-01-01

Neuropathic arthropathy (Charcot joints), which most frequently affects the weight-bearing joints of the body, is commonly associated with a variety of medical and neurological conditions, and is notoriously difficult to treat due to the nature of the underlying pathology. We present a case of idiopathic neuropathic arthropathy of the thumb CMC joint of an elderly female complicated by blunt trauma to the thumb. To our knowledge, this is the first reported case in the literature of this rare association.

Cancer Risk after Cyclophosphamide Treatment in Idiopathic Membranous Nephropathy

PubMed Central

van Dijk, Peter R.; Hofstra, Julia M.; Wetzels, Jack F.M.

2014-01-01

Background and objectives Cyclophosphamide treatment improves renal survival in patients with idiopathic membranous nephropathy. However, use of cyclophosphamide is associated with cancer. The incidence of malignancies in patients with idiopathic membranous nephropathy was evaluated, and the cancer risk associated with cyclophosphamide use was estimated. Design, setting, participants, & measurements Patients who attended the clinic were included prospectively from 1995 on. A crude incidence ratio for the occurrence of malignancy was calculated. Incidence ratios were subsequently standardized to potential confounders. Latency between cyclophosphamide therapy and the occurrence of cancer was estimated by stratifying for time since the start of treatment. Finally, Poisson regression was used to obtain a multiple adjusted incidence ratio and investigate the dose–response relationship between cyclophosphamide and cancer. Results Data were available for 272 patients; the mean age was 51 years, and 70% of the patients were men. Median follow-up was 6.0 years (interquartile range=3.6–9.5), and 127 patients were treated with cyclophosphamide. Cancer incidence was 21.2 per 1000 person-years in treated patients compared with 4.6 per 1000 person-years in patients who did not receive cyclophosphamide, resulting in crude and adjusted incidence ratios of 4.6 (95% confidence interval, 1.5 to 18.8) and 3.2 (95% confidence interval, 1.0 to 9.5), respectively. Conclusion Cyclophosphamide therapy in idiopathic membranous nephropathy gives a threefold increase in cancer risk. For the average patient, this finding translates into an increase in annual risk from approximately 0.3% to 1.0%. The increased risk of malignancy must be balanced against the improved renal survival. PMID:24855280

Are we simplifying balance evaluation in adolescent idiopathic scoliosis?

PubMed

Pasha, Saba; Baldwin, Keith

2018-01-01

Clinical evaluation of the postural balance in adolescent idiopathic scoliosis has been measured by sagittal vertical axis and frontal balance. The impact of the scoliotic deformity in three planes on balance has not been fully investigated. 47 right thoracic and left lumbar curves adolescent idiopathic scoliosis and 10 non-scoliotic controls were registered prospectively. 13 spinopelvic postural parameters were calculated from the 3-dimantional reconstructions of X-rays. 7 balance variables describing the position and sway of the center of pressure were recorded using a pressure mat. A regression analysis was used to predict sagittal vertical axis and frontal balance from the 7 balance variables. A canonical correlation analysis was performed between all the postural parameters and balance variables and the significant associations between the postural and balance variables were determined. sagittal vertical axis and frontal balance were not significantly associated with the position or sway of the center of pressure (p>0.05). Canonical correlation analysis showed significant associations between the postural variables in the 3 planes and center of pressure position (R 2 =0.81) and sway (R 2 =0.62), p<0.05. Frontal Cobbs, apical rotations, distal kyphosis, pelvic incidence, sacral slope, sagittal vertical axis, and frontal balance contributed to the postural balance in the cohort. The compensatory role of the pelvis and distal kyphosis in sagittal plane was underlined. Multidimensional analyses between the postural and balance variables showed the alignment of the thoracic, lumbar, and pelvis in the 3 planes, in addition to the global head-pelvic position impact on adolescent idiopathic scoliosis balance. Copyright © 2017 Elsevier Ltd. All rights reserved.

Primary myelofibrosis with or without mutant MPL: comparison of survival and clinical features involving 603 patients.

PubMed

Pardanani, A; Guglielmelli, P; Lasho, T L; Pancrazzi, A; Finke, C M; Vannucchi, A M; Tefferi, A

2011-12-01

MPL and JAK2V617F mutation analysis was performed in 603 patients with primary myelofibrosis (PMF) seen at the Mayo Clinic, USA (n=329) or University of Florence, Italy (n=274). Mutant MPL was detected in 49 (8.1%) patients and JAK2V617F in 350 (58%); 4 patients showed both mutations. MPLW515L/K was the commonest mutation; 2 patients showed novel mutations (L513ins and Q516-P518insAAAA). The US and Italy patient cohorts were separately analyzed for comparison of survival and clinical features between MPL-mutated, JAK2-mutated and JAK2/MPL-unmutated cases. JAK2/MPL-unmutated patients were significantly younger than their JAK2-mutated counterparts, in both patient cohorts (P<0.01). In the Florence only cohort, the presence of mutant MPL was associated with older age (P<0.01) and constitutional symptoms (P=0.04) and JAK2V617F with higher hemoglobin (P<0.01) and leukocyte (P=0.03) count; neither patient cohort showed significant associations with platelet count, hemoglobin <10 g/dl, abnormal/unfavorable karyotype, spleen size or prognostic score distribution. To date, 240 deaths and 79 leukemic transformations have been documented among all 603 study patients. Multivariable analysis disclosed no significant difference in overall or leukemia-free survival between the three molecular subgroups. We conclude that the presence of mutant MPL has narrow and inconsistent phenotypic effect in PMF and does not influence overall or leukemia-free survival.

Do all patients with idiopathic pulmonary fibrosis warrant a trial of therapeutic intervention? A pro-con perspective.

PubMed

Moodley, Yuben; Corte, Tamera; Richeldi, Luca; King, Talmadge E

2015-04-01

Idiopathic pulmonary fibrosis (IPF) is an incurable condition that is characterized by progressive pulmonary fibrosis, architectural distortion of the lung and loss of gas exchange units. Until recently, there was no effective treatment for this condition. However, there were two landmark trials published earlier this year, which have changed the management of this condition. Pirfenidone (Assessment of Pirfenidone to Confirm Efficacy and Safety in Idiopathic Pulmonary Fibrosis trial) and nintedanib (Efficacy and Safety of Nintedanib in Idiopathic Pulmonary Fibrosis-1 and -2 trials) have both demonstrated positive outcomes in patients with IPF. In this perspective, we critically discuss the role of these agents in IPF and in the broader pulmonary fibrosis population. © 2015 Asian Pacific Society of Respirology.

Anthropometric and skeletal phenotype in men with idiopathic osteoporosis and their sons is consistent with deficient estrogen action during maturation.

PubMed

Lapauw, Bruno; Taes, Youri; Goemaere, Stefan; Toye, Kaatje; Zmierczak, Hans-Georg; Kaufman, Jean-Marc

2009-11-01

Pathophysiology of deficient bone mass acquisition in male idiopathic osteoporosis (IO) remains poorly understood. Our objective was to investigate volumetric and geometric parameters of the appendicular skeleton, biochemical markers, and anthropometrics in men with IO. Our cross-sectional study included 107 men diagnosed with idiopathic low bone mass, 23 of their adult sons, and 130 age-matched controls. Body composition and areal bone parameters (dual-energy x-ray absorptiometry) and volumetric and geometric parameters of radius and tibia (peripheral quantitative computed tomography) were assessed. Serum levels of testosterone, estradiol (E(2)), and SHBG, and bone turnover markers were measured using immunoassays. Free hormone fractions were calculated. Men with idiopathic low bone mass had lower weight (-9.6%), truncal height (-3.3%), and upper/lower body segment ratio (-2.7%; all P < 0.001) and presented at the radius and tibia lower trabecular (-19.0 and -23.6%, respectively; both P < 0.001) and cortical volumetric bone mineral density (vBMD) (-2.4 and -1.7%; both P < 0.001) and smaller cortical areas (-9.7 and -13.6%; both P < 0.001) and thicknesses (-13.5 and -14.5%, both P < 0.001) due to larger endosteal circumferences (+11.8 and +7.4%, both P < 0.001) than controls. Furthermore, (free) E(2) was lower and SHBG higher (both P < 0.01). Their sons had lower trabecular vBMD (-10.3%, P = 0.036) and a thinner cortex (-8.3%, P = 0.024) at the radius. Bone mass deficits in men with idiopathic low bone mass involve trabecular and cortical bone, resulting from lower vBMD and smaller cortical bone cross-sectional areas and thicknesses. A similar bone phenotype is present in at least part of their sons. The lower E(2), together with characteristics as lower upper/lower body segment ratio, larger endosteal circumferences and lower vBMD, may indicate an estrogen-related factor in the pathogenesis of male IO.

JAK2 V617F, MPL W515L and JAK2 Exon 12 Mutations in Chinese Patients with Primary Myelofibrosis.

PubMed

Xia, Jun; Lu, Mi-Ze; Jiang, Yuan-Qiang; Yang, Guo-Hua; Zhuang, Yun; Sun, Hong-Li; Shen, Yun-Feng

2012-03-01

JAK2 V617F, MPL W515L and JAK2 exon 12 mutations are novel acquired mutations that induce constitutive cytokine-independent activation of the JAK-STAT pathway in myeloproliferative disorders (MPD). The discovery of these mutations provides novel mechanism for activation of signal transduction in hematopoietic malignancies. This research was to investigate their prevalence in Chinese patients with primary myelofibrosis (PMF). We introduced allele-specific PCR (AS-PCR) combined with sequence analysis to simultaneously screen JAK2 V617F, MPL W515L and JAK2 exon 12 mutations in 30 patients with PMF. Fifteen PMF patients (50.0%) carried JAK2 V617F mutation, and only two JAK2 V617F-negative patients (6.7%) harbored MPL W515L mutation. None had JAK2 exon 12 mutations. Furthermore, these three mutations were not detected in 50 healthy controls. MPL W515L and JAK2 V617F mutations existed in PMF patients but JAK2 exon 12 mutations not. JAK2 V617F and MPL W515L and mutations might contribute to the primary molecular pathogenesis in patients with PMF.

The Idiopathic Intracranial Hypertension Treatment Trial

PubMed Central

Wall, Michael; Kupersmith, Mark J.; Kieburtz, Karl D.; Corbett, James J.; Feldon, Steven E.; Friedman, Deborah I.; Katz, David M.; Keltner, John L.; Schron, Eleanor B.; McDermott, Michael P.

2015-01-01

IMPORTANCE To our knowledge, there are no large prospective cohorts of untreated patients with idiopathic intracranial hypertension (IIH) to characterize the disease. OBJECTIVE To report the baseline clinical and laboratory features of patients enrolled in the Idiopathic Intracranial Hypertension Treatment Trial. DESIGN, SETTING, AND PARTICIPANTS We collected data at baseline from questionnaires, examinations, automated perimetry, and fundus photography grading. Patients (n = 165) were enrolled from March 17, 2010, to November 27, 2012, at 38 academic and private practice sites in North America. All participants met the modified Dandy criteria for IIH and had a perimetric mean deviation between −2 dB and −7 dB. All but 4 participants were women. MAIN OUTCOMES AND MEASURES Baseline and laboratory characteristics. RESULTS The mean (SD) age of our patients was 29.0 (7.4) years and 4 (2.4%) were men. The average (SD) body mass index (calculated as weight in kilograms divided by height in meters squared) was 39.9 (8.3). Headache was the most common symptom (84%). Transient visual obscurations occurred in 68% of patients, back pain in 53%, and pulse synchronous tinnitus in 52%. Only 32% reported visual loss. The average (SD) perimetric mean deviation in the worst eye was −3.5 (1.1) dB, (range, −2.0 to −6.4 dB) and in the best eye was −2.3 (1.1) dB (range, −5.2 to 0.8 dB). A partial arcuate visual field defect with an enlarged blind spot was the most common perimetric finding. Visual acuity was 85 letters or better (20/20) in 71% of the worst eyes and 77% of the best eyes. Quality of life measures, including the National Eye Institute Visual Function Questionnaire–25 and the Short Form–36 physical and mental health summary scales, were lower compared with population norms. CONCLUSIONS AND RELEVANCE The Idiopathic Intracranial Hypertension Treatment Trial represents the largest prospectively analyzed cohort of untreated patients with IIH. Our data show

[Normal lung volumes in patients with idiopathic pulmonary fibrosis and emphysema].

PubMed

Casas, Juan Pablo; Abbona, Horacio; Robles, Adriana; López, Ana María

2008-01-01

Pulmonary function tests in idiopathic pulmonary fibrosis characteristically show a restrictive pattern, resulting from reduction of pulmonary compliance due to diffuse fibrosis. Conversely, an obstructive pattern with hyperinflation results in emphysema by loss of elastic recoil, expiratory collapse of the peripheral airways and air trapping. Previous reports suggest that when both diseases coexist, pulmonary volumes are compensated and a smaller than expected reduction or even normal lung volumes can be found. We report 4 male patients of 64, 60, 73 and 70 years, all with heavy cigarette smoking history and progressive breathlessness. Three of them had severe limitation in their quality of life. All four showed advanced lung interstitial involvement, at high resolution CT scan, fibrotic changes predominantly in the subpleural areas of lower lung fields and concomitant emphysema in the upper lobes. Emphysema and pulmonary fibrosis was confirmed by open lung biopsy in one patient. The four patients showed normal spirometry and lung volumes with severe compromise of gas exchange and poor exercise tolerance evaluated by 6 minute walk test. Severe pulmonary arterial hypertension was also confirmed in three patients. Normal lung volumes does not exclude diagnosis of idiopathic pulmonary fibrosis in patients with concomitant emphysema. The relatively preserved lung volumes may underestimate the severity of idiopathic pulmonary fibrosis and attenuate its effects on lung function parameters.

Correlates of the peak height velocity in girls with idiopathic scoliosis.

PubMed

Sanders, James O; Browne, Richard H; Cooney, Timothy E; Finegold, David N; McConnell, Sharon J; Margraf, Susan A

2006-09-15

Prospective longitudinal. Determine correlates of the peak height velocity (PHV) in girls with idiopathic scoliosis. Only identifiable retrospectively, the PHV is the most useful known maturity marker in idiopathic scoliosis. Clinically useful correlates are needed to make PHV timing helpful. A total of 24 immature girls with idiopathic scoliosis were followed with serial heights, sexual staging, skeletal ages, spinal radiographs, insulin-like growth factor (IGF)-1, IGF binding protein-3, dehydroepiandrosterone sulfate, estradiol, bone-specific alkaline phosphatase, and osteocalcin levels. These markers were correlated to PHV timing. There were 14 girls who had identifiable growth peaks that averaged 10.5 +/- 1.8 cm/y at age 11.7 +/- 1 years. At the PHV, all girls were Risser 0 with open triradiate cartilages. On a skeletal age radiograph, digital uncapped phalangeal epiphyses were indicative of pre-PHV and fused epiphyses of post-PHV. Capped but unfused epiphyses were indeterminate. Tanner stage 1 for breast strongly indicates pre-PHV. Stage 3 for breast and pubic hair occurred at or after the PHV, and stage 4 always occurred after PHV. Higher IGF-1 and estradiol levels after PHV are potentially discriminatory. The PHV occurs during Risser 0 with open triradiate cartilages. If triradiate cartilages are open, then Tanner stages, IGF-1, estradiol levels, and the appearance of the epiphyses on a skeletal age radiograph are useful in determining status before or after PHV.

Consanguineous marriage and increased risk of idiopathic congenital talipes equinovarus: a case-control study in a rural area.

PubMed

Sahin, Orcun; Yildirim, Cengiz; Akgun, Rahmi C; Haberal, Bahtiyar; Yazici, Ayse C; Tuncay, Ismail C

2013-01-01

The purpose of this study is to evaluate if there is any relationship between consanguineous marriages and idiopathic congenital talipes equinovarus (CTEV). A case-control study on CTEV screening was conducted in a rural eastern city of Turkey between 2009 and 2011 and a total of 28 cases (infants with idiopathic CTEV) and 575 controls (healthy infants) were recruited. Sociodemographic status of the infants, including gestational age and birth weights, maternal characteristics and, if any, the degree of consanguinity, were recorded. As an inclusion criterion, only singleton, full-term, live births were accepted. A backward stepwise logistic regression model was used to evaluate the relationship between idiopathic CTEV and parental consanguinity. Unadjusted and adjusted odds ratios (OR) with 95% confidence interval (CI) were calculated. Among maternal and infant characteristics, significant risk factors for idiopathic CTEV in the regression analysis were work status (employed), consanguineous marriage, sex (male), and gestational age (>42 wk). Babies born to first-cousin parents had >4 times the risk of idiopathic CTEV [OR, 4.138, (95% CI, 1.484, 11.538)] and the risk for those born to distant relatives was 2.9 times higher [OR, 2.941, (95% CI, 1.070, 8.087)] than for children of unrelated parents. Consanguineous marriage was significantly associated with an increased risk of idiopathic CTEV. This association remained significant even after adjusting for potential confounding variables. To obtain more accurate results, a population-based screening study with an increased number of cases and controls should be performed in future studies. Case-control study investigating the effect of a patient characteristic on the outcome of disease (level-III).

Idiopathic Pulmonary Fibrosis and Myasthenia Gravis: An Unusual Association

PubMed Central

Chogtu, Bharti; Malik, Daliparty Vasudev

2016-01-01

Idiopathic Pulmonary Fibrosis (IPF) is a chronic fibrosing lung condition with high morbidity and mortality, accounting for about 25% of the cases of interstitial lung diseases. It usually has a progressive course resulting in death due to respiratory failure. Myasthenia Gravis (MG) is an autoimmune neuromuscular disease, caused by antibody mediated activity against acetylcholine receptor at the neuromuscular junction. It is characterized by fluctuating muscle weakness and fatigue. Extensive literature search did not reveal any case report of an association between these two conditions. Here we present a case of a patient with IPF who also developed MG. The diagnosis of IPF was based on High Resolution Computed Tomography (HRCT) of the lung and that of MG was based on clinical criteria and electrophysiological testing. The case was successfully managed. PMID:27190866

Synergism between the N-acetyltransferase 2 gene and oxidant exposure increases the risk of idiopathic male infertility.

PubMed

Yarosh, Sergey L; Kokhtenko, Elena V; Churnosov, Mikhail I; Ataman, Alexander V; Solodilova, Maria A; Polonikov, Alexey V

2014-09-01

N-acetyltransferase (NAT2) is a phase-II xenobiotic-metabolizing enzyme participating in the detoxification of toxic arylamines, aromatic amines and hydrazines. The present study was designed to investigate whether two common single-nucleotide polymorphisms (SNP) of the NAT2 gene (481C>T, rs1799929; 590G>A, rs1799930) are associated with susceptibility to idiopathic male infertility and to assess if the risk is modified by oxidant and antioxidant exposures. A total 430 DNA samples (203 infertile patients and 227 fertile men) were genotyped for the polymorphisms by PCR and restriction fragment length polymorphism. No association was found between the NAT2 polymorphisms and idiopathic male infertility. However, gene-environment interaction analysis revealed that a low-acetylation genotype, 590GA, was significantly associated with increased disease risk in men who had environmental risk factors such as cigarette smoking (OR 1.71, 95% CI 1.02-2.87, P = 0.042), alcohol abuse (OR 2.14, 95% CI 1.08-4.27, P = 0.029) and low fruit/vegetable intake (OR 1.68, 95% CI 1.01-2.79, P = 0.04). This pilot study found, as far as is known for the first time, that the polymorphism 590G>A of NAT2 is a novel genetic marker for susceptibility to idiopathic male infertility, but the risk is potentiated by exposure to various environmental oxidants. Copyright © 2014 Reproductive Healthcare Ltd. Published by Elsevier Ltd. All rights reserved.

CSF histamine contents in narcolepsy, idiopathic hypersomnia and obstructive sleep apnea syndrome.

PubMed

Kanbayashi, Takashi; Kodama, Tohru; Kondo, Hideaki; Satoh, Shinsuke; Inoue, Yuichi; Chiba, Shigeru; Shimizu, Tetsuo; Nishino, Seiji

2009-02-01

To (1) replicate our prior result of low cerebrospinal fluid (CSF) histamine levels in human narcolepsy in a different sample population and to (2) evaluate if histamine contents are altered in other types of hypersomnia with and without hypocretin deficiency. Cross sectional studies. Sixty-seven narcolepsy subjects, 26 idiopathic hypersomnia (IHS) subjects, 16 obstructive sleep apnea syndrome (OSAS) subjects, and 73 neurological controls were included. All patients were Japanese. Diagnoses were made according to ICSD-2. We found significant reductions in CSF histamine levels in hypocretin deficient narcolepsy with cataplexy (mean +/- SEM; 176.0 +/- 25.8 pg/mL), hypocretin non-deficient narcolepsy with cataplexy (97.8 +/- 38.4 pg/mL), hypocretin non-deficient narcolepsy without cataplexy (113.6 +/- 16.4 pg/mL), and idiopathic hypersomnia (161.0 +/- 29.3 pg/ mL); the levels in OSAS (259.3 +/- 46.6 pg/mL) did not statistically differ from those in the controls (333.8 +/- 22.0 pg/mL). Low CSF histamine levels were mostly observed in non-medicated patients; significant reductions in histamine levels were evident in non-medicated patients with hypocretin deficient narcolepsy with cataplexy (112.1 +/- 16.3 pg/ mL) and idiopathic hypersomnia (143.3 +/- 28.8 pg/mL), while the levels in the medicated patients were in the normal range. The study confirmed reduced CSF histamine levels in hypocretin-deficient narcolepsy with cataplexy. Similar degrees of reduction were also observed in hypocretin non-deficient narcolepsy and in idiopathic hypersomnia, while those in OSAS (non central nervous system hypersomnia) were not altered. The decrease in histamine in these subjects were more specifically observed in non-medicated subjects, suggesting CSF histamine is a biomarker reflecting the degree of hypersomnia of central origin.

CONTRAIS: CONservative TReatment for Adolescent Idiopathic Scoliosis: a randomised controlled trial protocol

PubMed Central

2013-01-01

Background Idiopathic scoliosis is a three-dimensional structural deformity of the spine that occurs in children and adolescents. Recent reviews on bracing and exercise treatment have provided some evidence for effect of these interventions. The purpose of this study is to improve the evidence base regarding the effectiveness of conservative treatments for preventing curve progression in idiopathic scoliosis. Methods/design Patients: Previously untreated girls and boys with idiopathic scoliosis, 9 to 17 years of age with at least one year of remaining growth and a curve Cobb angle of 25–40 degrees will be included. A total of 135 participants will be randomly allocated in groups of 45 patients each to receive one of the three interventions. Interventions: All three groups will receive a physical activity prescription according to the World Health Organisation recommendations. One group will additionally wear a hyper-corrective night-time brace. One group will additionally perform postural scoliosis-specific exercises. Outcome: Participation in the study will last until the curve has progressed, or until cessation of skeletal growth. Outcome variables will be measured every 6 months. The primary outcome variable, failure of treatment, is defined as progression of the Cobb angle more than 6 degrees, compared to the primary x-ray, seen on two consecutive spinal standing x-rays taken with 6 months interval. Secondary outcome measures include the SRS-22r and EQ5D-Y quality of life questionnaires, the International Physical Activity Questionnaire (IPAQ) short form, and Cobb angle at end of the study. Discussion This trial will evaluate which of the tested conservative treatment approaches that is the most effective for patients with adolescent idiopathic scoliosis. Trial registration NCT01761305 PMID:24007599

Long-term results after Boston brace treatment in late-onset juvenile and adolescent idiopathic scoliosis.

PubMed

Lange, Johan Emil; Steen, Harald; Gunderson, Ragnhild; Brox, Jens Ivar

2011-08-31

It is recommended that research in patients with idiopathic scoliosis should focus on short- and long-term patient-centred outcome. The aim of the present study was to evaluate outcome in patients with late-onset juvenile or adolescent idiopathic scoliosis 16 years or more after Boston brace treatment. 272 (78%) of 360 patients, 251 (92%) women, responded to follow-up examination at a mean of 24.7 (range 16 - 32) years after Boston brace treatment. Fifty-eight (21%) patients had late-onset juvenile and 214 had adolescent idiopathic scoliosis. All patients had clinical and radiological examination and answered a standardised questionnaire including work status, demographics, General Function Score (GFS) (100 - worst possible) and Oswestry Disability Index (ODI) (100 - worst possible), EuroQol (EQ-5D) (1 - best possible), EQ-VAS (100 - best possible), and Scoliosis Research Society - 22 (SRS - 22) (5 - best possible). The mean age at follow-up was 40.4 (31-48) years. The prebrace major curve was in average 33.2 (20 - 57)°. At weaning and at the last follow-up the corresponding values were 28.3 (1 - 58)° and 32.5 (7 - 80)°, respectively. Curve development was similar in patients with late-onset juvenile and adolescent start. The prebrace curve increased > 5° in 31% and decreased > 5° in 26%. Twenty-five patients had surgery. Those who did not attend follow-up (n = 88) had a lower mean curve at weaning: 25.4 (6-53)°. Work status was 76% full-time and 10% part-time. Eighty-seven percent had delivered a baby, 50% had pain in pregnancy. The mean (SD) GFS was 7.4 (10.8), ODI 9.3 (11.0), EQ-5D 0.82 (0.2), EQ-VAS 77.6 (17.8), SRS-22: pain 4.1 (0.8), mental health 4.1 (0.6), self-image 3.7 (0.7), function 4.0 (0.6), satisfaction with treatment 3.7 (1.0). Surgical patients had significantly reduced scores for SRS-physical function and self-image, and patients with curves ≥ 45° had reduced self-image. Long-term results were satisfactory in most braced patients and

Echocardiography-based spectrum of severe tricuspid regurgitation: the frequency of apparently idiopathic tricuspid regurgitation.

PubMed

Mutlak, Diab; Lessick, Jonathan; Reisner, Shimon A; Aronson, Doron; Dabbah, Salim; Agmon, Yoram

2007-04-01

The cause of tricuspid valve (TV) regurgitation (TR) occasionally remains unclear. The objectives of our study were to define the causal spectrum of severe TR diagnosed by echocardiography at a tertiary medical center and to assess the relative frequency and determine the clinical and echocardiographic characteristics of TR without an apparent cause (idiopathic TR). Consecutive patients with severe TR were identified by the echocardiography laboratory computerized database. The echocardiographic reports of all patients were reviewed and the causes of TR were determined. The echocardiographic studies and medical charts were reviewed in patients without an obvious cause of TR. Of 242 consecutive patients diagnosed with severe TR, organic TV disease was evident in 23 patients (9.5%) and significant pulmonary hypertension (estimated pulmonary artery systolic pressure > 50 mm Hg) in an additional 157 patients (64.9%). After further excluding patients with various confounding factors, possibly associated with occult organic TV disease or significant pulmonary hypertension, 23 patients (9.5%) had severe TR without an apparent cause. Of these, TV coaptation appeared relatively intact, allowing adequate estimation of pulmonary artery pressure, in 15 patients (6.2% of all patients with severe TR; idiopathic TR group). Patients with idiopathic TR were older (76 +/- 10 years), with a high frequency of atrial fibrillation (93%), and prominent TV annular dilatation. After excluding multiple potential causes of TR, severe TR is occasionally idiopathic. Annular dilatation (secondary to aging, atrial fibrillation, or other causes) is the likely mechanism of TR in these patients.

Ultrasound-guided corticosteroid injection of the subtalar joint for treatment of juvenile idiopathic arthritis.

PubMed

Young, Cody M; Horst, Deanna M; Murakami, James W; Shiels, William E

2015-07-01

The subtalar joint is commonly affected in children with juvenile idiopathic arthritis and is challenging to treat percutaneously. To describe the technique for treating the subtalar joint with US-guided corticosteroid injections in children and young adults with juvenile idiopathic arthritis and to evaluate the safety of the treatment. We retrospectively analyzed 122 patients (age 15 months-29 years) with juvenile idiopathic arthritis who were referred by a pediatric rheumatologist for corticosteroid injection therapy for symptoms related to the hindfoot or ankle. In these patients the diseased subtalar joint was targeted for therapy, often in conjunction with adjacent affected joints or tendon sheaths of the ankle. We used a protocol based on age, weight and joint for triamcinolone hexacetonide or triamcinolone acetonide dose prescription. We describe the technique for successful treatment of the subtalar joint. A total of 241 subtalar joint corticosteroid injections were performed under US guidance, including 68 repeat injections for recurrent symptoms in 26 of the 122 children and young adults. The average time interval between repeat injections was 24.8 months (range 2.2-130.7 months, median 14.2 months). Subcutaneous tissue atrophy and skin hypopigmentation were the primary complications observed. These complications occurred in 3.9% of the injections. With appropriate training and practice, the subtalar joint can be reliably and safely targeted with US-guided corticosteroid injection to treat symptoms related to juvenile idiopathic arthritis.

Discrepancy in clinical versus radiological parameters describing deformity due to brace treatment for moderate idiopathic scoliosis

PubMed Central

Kotwicki, Tomasz; Kinel, Edyta; Stryla, Wanda; Szulc, Andrzej

2007-01-01

Background The shape of the torso in patients with idiopathic scoliosis is considered to reflect the shape of the vertebral column, however the direct correlation between parameters describing clinical deformity and those characterizing radiological curvature was reported to be weak. It is not clear if the management proposed for scoliosis (physiotherapy, brace, surgery) affects equally the shape of the axial skeleton and the surface of the body. The aim of the study was to compare clinical deformity of (1) idiopathic scoliosis girls being under brace treatment for radiological curves of 25 to 40 degrees and (2) non treated scoliotic girls matched for age and Cobb angle. Methods Cross-sectional study of 24 girls wearing the brace versus 26 girls without brace treatment, matched for age and Cobb angle. Hypothesis: Patients wearing the brace for more than 6 months, when comparing to patients without brace, may present different external morphology of the trunk, in spite of having similar Cobb angle. Material. Inclusion criteria: girls, idiopathic scoliosis, growing age (10–16 years), Cobb angle minimum 25°, maximum 40°. The braced group consisted of girls wearing a TLSO brace (Cheneau) for more than 6 months with minimum of 16 hours per day. The non-braced group consisted of girls first seen for their spinal deformity, previously not treated. The groups presented similar curve pattern. Methods. Scoliometer exam: angle of trunk rotation at three levels of the spine: upper thoracic, main thoracic, lumbar or thoracolumbar. The maximal angle was noted at each level and the sum of three levels was calculated. Posterior trunk symmetry index (POTSI) and Hump Sum were measured using surface topography. Results Cobb angle was 34.9° ± 4.8° in braced and 32.7° ± 4.9° in un-braced patients (difference not significant). The age was 14.1 ± 1.6 years in braced patients and 13.1 ± 1.9 years in un-braced group (p = 0.046). The value of angle of trunk rotation in the main

[Cyclophosphamide in idiopathic nephrotic syndrome: Outcome and outlook].

PubMed

Berkane, Majda; Adarmouch, Latifa; Amine, Mohamed; Bourrahouat, Aicha; Ait Sab, Imane; Sbihi, Mohamed

2018-04-01

Cyclophosphamide (CYP) has been used for over 40 years in patients with steroid-sensitive nephrotic syndrome (NSSS) presenting frequent relapses (NSRF) or steroid dependence (NSSD). However, the long-term success of treatment with cyclophosphamide is difficult to predict. The objectives of this study are to determine long-term outcomes of cyclophosphamide and identify the factors associated with sustained remission. We retrospectively studied the data from 50 patients with idiopathic nephrotic syndrome, treated by oral cyclophosphamide and followed at service of pediatric for more than 8 years for idiopathic nephrotic syndrome and related factors for survival without relapse were evaluated by univariate analysis. The median age at the time of diagnosis was 4.3 years, and median follow-up time was 1.7 years with the median of 8 years at the first use of CYC. Patients had received a median cumulative dose of 168mg/kg. At the end of follow-up, 38% of patients entered into remission after using CYC while 62% failed to respond and further relapses then occur. The median time of stopping corticosteroid therapy was three month. The survival without relapse was respectively 56% (28 patients), 52% (26 patients), 48% (24 patients), and 38% (19 patients), at 6 months, one year, two years and more than two years. In univariate analysis, the survival without relapse was related to the age at the moment of starting the therapy par CYC (the median was 5 months for an age < 8 years and 41 months for an age≥8 years; P=0.049), the type of nephrotic syndrome [36 months for SNRF, 4 months for NSSD and nephrothic syndrome steroid resistant (NSSR); P=0.068], and the histological lesion (6 months for diffuse mesangial proliferation, 2 months for segmental glomerulosclerosis; P=0.009). The age at the moment of diagnosis, the sex and the cumulative dose of CYC did not have significant influence. The results presented in this study suggest the use of oral cyclophosphamide for short

[Role of bones in the physiopathology of idiopathic hypercalciuria: effect of amino-bisphosphonate alendronate].

PubMed

Weisinger, J R; Alonzo, E; Machado, C; Carlini, R; Martinis, R; Paz-Martínez, V; Bellorín-Font, E

1997-01-01

Previous studies from our laboratory demonstrated that bone mineral content is affected in patients with idiopathic hypercalciuria and that there is a correlation between bone mineral loss and in-vitro cytokine production. At the same time we found that short term treatment with alendronate decreased urinary calcium in these subjects. In the present study we have examined the long-term effects of alendronate treatment (10 mg/day for one year) on urinary calcium, urinary hydroxyproline and bone mineral content in 18 idiopathic hypercalciuric and 8 normocalciuric stone formers. Clinical characteristics, as well as gender and age distribution were similar in both groups. Urinary calcium and hydroxyproline, were measured monthly. Calcium excretion decreased significantly at the end of the first month, and remained lower thereafter (277 +/- 28, before vs. 202 +/- 26 mg/g creatinine, after 12 months on alendronate, p < 0.01). Urinary hydroxyproline decreased significantly during the study (125.5 +/- 32.1 vs. 39.66 +/- 17.5 mg/g creatinine, p < 0.05). Serum calcium, glomerular filtration rate, and urinary sodium, did not change during the study. Lumbar spine bone density (trabecular bone) obtained with X ray absorptiometry revealed a significant increase from 1.162 +/- 0.231 to 1.197 +/- 0.248 g/cm2 (p < 0.01). These changes were associated with a significant decrease in IL-1 alpha mRNA transcription by unstimulated and lipopolysaccharide stimulated blood mononuclear cells, as tested by the reverse transcriptase polymerase chain reaction. No changes were observed in bone cortical sites (femoral neck). Normocalciuric subjects showed no significant changes in urinary calcium. In summary, the changes observed in urinary calcium excretion and different bone metabolic parameters, suggest a role of bone in the pathophysiology of idiopathic hypercalciuria.

Narcolepsy Type 1 and Idiopathic Generalized Epilepsy: Diagnostic and Therapeutic Challenges in Dual Cases

PubMed Central

Baiardi, Simone; Vandi, Stefano; Pizza, Fabio; Alvisi, Lara; Toscani, Lucia; Zambrelli, Elena; Tinuper, Paolo; Mayer, Geert; Plazzi, Giuseppe

2015-01-01

Study Objectives: The aim of this study is to describe the possible co-occurrence of narcolepsy type 1 and generalized epilepsy, focusing on diagnostic challenge and safety of dual treatments. Methods and Results: Four patients with comorbidity for narcolepsy type 1 and idiopathic generalized epilepsy are reported: in three cases the onset of epilepsy preceded narcolepsy type 1 appearance, whereas in one case epileptic spells onset was subsequent. Patients presented with absences, myoclonic and tonic-clonic seizure type: in the patient with tonic-clonic seizures the dual pathology was easily recognized, in the other cases the first diagnosis caused the comorbid disease to be overlooked, independent of the time-course sequence. All four patients underwent neurological examination, video-electroencephalogram during which ictal and interictal epileptic discharges were recorded, and sleep polysomnographic studies. Repeated sleep onset rapid eye movement periods (SOREMPs) were documented with the multiple sleep latency test (MLST) in all the four cases. All patients had unremarkable brain magnetic resonance imaging studies and cerebrospinal hypocretin-1 was assessed in two patients, revealing undetectable levels. The association of antiepileptic drugs and substances currently used to treat narcolepsy type 1, including sodium oxybate, was effective in improving seizures, sleep disturbance, and cataplexy. Conclusions: Narcolepsy type 1 may occur in association with idiopathic generalized epilepsy, leading to remarkable diagnostic and therapeutic challenges. Electrophysiological studies as well as a comprehensive somnologic interview can help confirm the diagnosis in patients with ambiguous neurological history. Sodium oxybate in combination with antiepileptic drugs is safe and effective in treating cataplexy and excessive daytime sleepiness. Citation: Baiardi S, Vandi S, Pizza F, Alvisi L, Toscani L, Zambrelli E, Tinuper P, Mayer G, Plazzi G. Narcolepsy type 1 and

[Idiopathic inflammatory bowel disease - advancements in surgical treatment].

PubMed

Ulrych, J; Krška, Z

2012-10-01

Treatment of idiopathic inflammatory bowel disease is constantly developing. Biological therapy has become a standard part of conservative treatment, and gene and cell therapy of these diseases is in preclinical phase. Surgical therapy also offers some progress in the treatment, such as the increasingly preferred laparoscopic approach offering the numerous benefits of minimally invasive surgery or a tendency to perform stapled anastomosis. A retrospective analysis of patients with a diagnosis of idiopathic inflammatory bowel operated on at the First Department of Surgery, General University Hospital in the years 2007-2011 was performed. Within this period, 179 patients diagnosed with Crohns disease were operated on. 30 patients underwent acute operation and 149 patients were indicated for elective surgery. In the same period, 40 patients with ulcerative colitis were indicated for surgery, of whom 22 patients for acute surgery and 18 for elective surgery. Multidisciplinary approach in the treatment of patients with inflammatory bowel disease is crucial and patients should be treated in specialized centres. New possibilities of conservative treatment and progress in surgical therapy mutually correlate, and thus the choice of a correct therapeutic procedure requires specific cooperation between the surgeon and the gastroenterologist.

Nephrotic syndrome complicated by idiopathic central diabetes insipidus.

PubMed

Konomoto, Takao; Tanaka, Etsuko; Imamura, Hideaki; Orita, Mayuko; Sawada, Hirotake; Nunoi, Hiroyuki

2014-05-01

There is ongoing discussion regarding the mechanisms underlying edema formation in nephrotic syndrome (NS). Many studies published in the last decade reported that primary renal sodium retention was a major factor in edema formation. However, many of the factors influencing edema formation in NS remain unclear, including the role of arginine vasopressin (AVP). We report a 12-year-old boy with steroid-dependent NS complicated by idiopathic central diabetes insipidus (CDI). He did not develop edema during his first relapse of NS after developing CDI, despite having hypoalbuminemia. He had polydipsia, polyuria, low urine osmolality, and a low serum arginine AVP level. His fractional excretion of sodium was only slightly low. Endocrinological testing and magnetic resonance imaging revealed idiopathic CDI. After starting desmopressin therapy, he developed edema when his NS relapsed. This is the first known reported case of NS in a patient with CDI. The findings suggest that appropriate AVP secretion in response to an increase in serum osmolality caused by renal sodium retention is necessary for excess extracellular fluid accumulation in NS. Further investigation is needed to more fully understand the role of AVP in edema formation in NS.

Identification of a Novel Idiopathic Epilepsy Locus in Belgian Shepherd Dogs

PubMed Central

Seppälä, Eija H.; Koskinen, Lotta L. E.; Gulløv, Christina H.; Jokinen, Päivi; Karlskov-Mortensen, Peter; Bergamasco, Luciana; Baranowska Körberg, Izabella; Cizinauskas, Sigitas; Oberbauer, Anita M.; Berendt, Mette; Fredholm, Merete; Lohi, Hannes

2012-01-01

Epilepsy is the most common neurological disorder in dogs, with an incidence ranging from 0.5% to up to 20% in particular breeds. Canine epilepsy can be etiologically defined as idiopathic or symptomatic. Epileptic seizures may be classified as focal with or without secondary generalization, or as primary generalized. Nine genes have been identified for symptomatic (storage diseases) and one for idiopathic epilepsy in different breeds. However, the genetic background of common canine epilepsies remains unknown. We have studied the clinical and genetic background of epilepsy in Belgian Shepherds. We collected 159 cases and 148 controls and confirmed the presence of epilepsy through epilepsy questionnaires and clinical examinations. The MRI was normal while interictal EEG revealed abnormalities and variable foci in the clinically examined affected dogs. A genome-wide association study using Affymetrix 50K SNP arrays in 40 cases and 44 controls mapped the epilepsy locus on CFA37, which was replicated in an independent cohort (81 cases and 88 controls; combined p = 9.70×10−10, OR = 3.3). Fine mapping study defined a ∼1 Mb region including 12 genes of which none are known epilepsy genes or encode ion channels. Exonic sequencing was performed for two candidate genes, KLF7 and ADAM23. No variation was found in KLF7 but a highly-associated non-synonymous variant, G1203A (R387H) was present in the ADAM23 gene (p = 3.7×10−8, OR = 3.9 for homozygosity). Homozygosity for a two-SNP haplotype within the ADAM23 gene conferred the highest risk for epilepsy (p = 6.28×10−11, OR = 7.4). ADAM23 interacts with known epilepsy proteins LGI1 and LGI2. However, our data suggests that the ADAM23 variant is a polymorphism and we have initiated a targeted re-sequencing study across the locus to identify the causative mutation. It would establish the affected breed as a novel therapeutic model, help to develop a DNA test for breeding purposes and introduce a

Immunosuppressive therapy for patients with Down syndrome and idiopathic aplastic anemia.

PubMed

Suzuki, Kyogo; Muramatsu, Hideki; Okuno, Yusuke; Narita, Atsushi; Hama, Asahito; Takahashi, Yoshiyuki; Yoshida, Makoto; Horikoshi, Yasuo; Watanabe, Ken-Ichiro; Kudo, Kazuko; Kojima, Seiji

2016-07-01

Idiopathic aplastic anemia (AA) is a rare hematological complication of Down syndrome (DS). The safety and efficacy of immunosuppressive therapy (IST) in individuals with DS remain unknown. We used a standard regimen of IST, comprising antithymocyte globulin and cyclosporine A, to treat three children with DS and idiopathic acquired AA. Two patients achieved a hematological (complete or partial) response and became transfusion independent at the final follow-up. The third patient failed to respond to IST and underwent bone marrow transplantation from a human leukocyte antigen (HLA)-mismatched unrelated donor. None of the patients experienced severe or unexpected adverse events during IST. Our experience suggests that IST is a safe and reasonable treatment, even in individuals with DS who suffer from AA and lack an HLA-matched sibling donor.

Impact of sildenafil on survival of patients with idiopathic pulmonary arterial hypertension.

PubMed

Zeng, Wei-Jie; Sun, Yun-Juan; Gu, Qing; Xiong, Chang-Ming; Li, Jian-Jun; He, Jian-Guo

2012-09-01

It has been reported that short-term sildenafil therapy is safe and effective for patients with pulmonary arterial hypertension. However, data regarding the impact of sildenafil on the survival of patients with idiopathic pulmonary arterial hypertension remain limited. The study was conducted on 77 patients with newly diagnosed idiopathic pulmonary arterial hypertension at Fu Wai Hospital between September 2005 and September 2009. Patients were divided into 2 groups: the sildenafil group and the conventional group. Nine patients treated with sildenafil were re-evaluated by right heart catheterization after 3 months. Our data demonstrated that the 6-minute walk distance, World Health Organization functional class, mixed venous oxygen saturation, and hemodynamics significantly improved after 3 months of sildenafil therapy (P < .05). The baseline characteristics of the sildenafil group were similar to those of the conventional group. The 1-, 2-, and 3-year survival rates in the sildenafil group were 88%, 72%, and 68% compared with 61%, 36%, and 27% in the conventional group (P < .001). The absence of sildenafil therapy, lower body mass index, and lower mixed venous oxygen saturation were found to be independent predictors of mortality. In conclusion, sildenafil therapy was found to be associated with improved survival in patients with idiopathic pulmonary arterial hypertension.

Familial idiopathic pulmonary fibrosis. Evidence of lung inflammation in unaffected family members

DOE Office of Scientific and Technical Information (OSTI.GOV)

Bitterman, P.B.; Rennard, S.I.; Keogh, B.A.

1986-05-22

We evaluated 17 clinically unaffected members of three families with an autosomal dominant form of idiopathic pulmonary fibrosis for evidence of alveolar inflammation. Each person in the study was examined by gallium-67 scanning for a general estimate of pulmonary inflammation, and by bronchoalveolar lavage for characterization of the types of recovered cells and their state of activation. Eight of the 17 subjects had evidence of alveolar inflammation on the lavage studies. Supporting data included increased numbers of neutrophils and activated macrophages that released one or more neutrophil chemoattractants, and growth factors for lung fibroblasts--findings similar to those observed in patientsmore » with overt idiopathic pulmonary fibrosis. Four of these eight also had a positive gallium scan; in all the other clinically unaffected subjects the scan was normal. During a follow-up of two to four years in seven of the eight subjects who had evidence of inflammation, no clinical evidence of pulmonary fibrosis has appeared. These results indicate that alveolar inflammation occurs in approximately half the clinically unaffected family members at risk of inheriting autosomal dominant idiopathic pulmonary fibrosis. Whether these persons with evidence of pulmonary inflammation but no fibrosis will proceed to have clinically evident pulmonary fibrosis is not yet known.« less

Early prediction of medication refractoriness in children with idiopathic epilepsy based on scalp EEG analysis.

PubMed

Lin, Lung-Chang; Ouyang, Chen-Sen; Chiang, Ching-Tai; Yang, Rei-Cheng; Wu, Rong-Ching; Wu, Hui-Chuan

2014-11-01

Refractory epilepsy often has deleterious effects on an individual's health and quality of life. Early identification of patients whose seizures are refractory to antiepileptic drugs is important in considering the use of alternative treatments. Although idiopathic epilepsy is regarded as having a significantly lower risk factor of developing refractory epilepsy, still a subset of patients with idiopathic epilepsy might be refractory to medical treatment. In this study, we developed an effective method to predict the refractoriness of idiopathic epilepsy. Sixteen EEG segments from 12 well-controlled patients and 14 EEG segments from 11 refractory patients were analyzed at the time of first EEG recordings before antiepileptic drug treatment. Ten crucial EEG feature descriptors were selected for classification. Three of 10 were related to decorrelation time, and four of 10 were related to relative power of delta/gamma. There were significantly higher values in these seven feature descriptors in the well-controlled group as compared to the refractory group. On the contrary, the remaining three feature descriptors related to spectral edge frequency, kurtosis, and energy of wavelet coefficients demonstrated significantly lower values in the well-controlled group as compared to the refractory group. The analyses yielded a weighted precision rate of 94.2%, and a 93.3% recall rate. Therefore, the developed method is a useful tool in identifying the possibility of developing refractory epilepsy in patients with idiopathic epilepsy.

[Regulation of airway stem cell proliferation in idiopathic pulmonary fibrosis].

PubMed

Yang, S X; Wu, Q; Sun, X; Li, X; Li, K; Xu, L; Li, Y; Zhang, Q Y; Zhang, Y C; Chen, H Y

2016-09-01

To investigate the effect of fibroblasts on regulating airway stem cell proliferation in idiopathic pulmonary fibrosis. Lung cell suspension was prepared from β-actin-GFP mice. Airway stem cells were obtained by fluorescence activated cell sorting and co-cultured with lung fibroblasts. The fibroblasts were treated with TGF-β inhibitor SB43142. The expression of growth factors FGF1/2 and the effect of FGF1/2 on stem cell proliferation were observed. The cloning efficiency of airway stem cells, when co-cultured with normal lung fibroblast cells for 8 days, was (3.5±1.1)%, while the cloning efficiency was reduced to (0.04±0.04)% when co-cultured with lung fibroblasts from idiopathic pulmonary fibrosis patients. The difference between the 2 groups was statistically significant(P=0.002 5). TGF-β receptor inhibitor SB431542 increased lung fibroblast growth factors FGF1/2 expression.FGF1 mRNA expression was increased to the experimental group 0.005 5 from 0.000 2 in the control group.FGF2 mRNA expression of the amount raised to the experimental group 0.000 15 from 0.000 8 in the control group.FGF1/2 promoted the growth of airway stem cells. After FGF1/2 was co-cultured with normal lung fibroblast cells for 8 days, the cloning efficiency of airway stem cells was (0.3±0.1)%. During the development of idiopathic pulmonary fibrosis, fibroblast secreted FGF1/2 regulate airway stem cell proliferation.

Buckling and bone modeling as factors in the development of idiopathic scoliosis.

PubMed

Goto, Manabu; Kawakami, Noriaki; Azegami, Hideyuki; Matsuyama, Yukihiro; Takeuchi, Kenzen; Sasaoka, Ryu

2003-02-15

Computational analysis using the finite-element method was used to examine a possible etiology of idiopathic scoliosis. To compare changes in the coronal and the transverse planes of idiopathic thoracic scoliosis with changes produced in a finite-element buckling model, and to investigate the influence of bone modeling on the buckling spine. Although it is now widely accepted that growth is related strongly to the onset and progression of scoliosis, the pathomechanism or etiology of idiopathic scoliosis still is not clear. A previous study showed that a buckling phenomenon caused by anterior spinal overgrowth can produce scoliosis, and that the fourth buckling mode matched the clinical characteristics associated with the thoracic type of idiopathic scoliosis. The fourth buckling mode occurs when the first, second, and third buckling modes are prevented. The spinal finite-element model used in this study consisted of 68,582 elements and 84,603 nodes. The transverse changes seen in the computed tomography images of 41 patients with idiopathic thoracic scoliosis (apex, T8; average Cobb angle, 52.5 degrees) were compared with those produced in the fourth buckling mode. Bone modeling (bone formation and resorption) was simulated as heat deformation caused by changes in temperature. The bone formation and resorption were simulated, respectively, by positive and negative volume changes in proportion to the stress that occurred in the buckling spine. Computed tomography images of scoliosis show that as the scoliosis becomes more severe, the thoracic cage decreases on the convex side of the curve and increases on the concave side. The opposite thoracic cage deformation was obtained in the fourth buckling mode. In patients with scoliosis, the sternum essentially remains in its original position with respect to the vertebrae, but in the linear buckling model, it shifted in the direction of vertebral body rotation. In contrast to clinical data, the incremental deformation

Ultrasound-guided corticosteroid injection therapy for juvenile idiopathic arthritis: 12-year care experience.

PubMed

Young, Cody M; Shiels, William E; Coley, Brian D; Hogan, Mark J; Murakami, James W; Jones, Karla; Higgins, Gloria C; Rennebohm, Robert M

2012-12-01

Intra-articular corticosteroid injections are a safe and effective treatment for patients with juvenile idiopathic arthritis. The potential scope of care in ultrasound-guided corticosteroid therapy in children and a joint-based corticosteroid dose protocol designed to optimize interdisciplinary care are not found in the current literature. The purpose of this study was to report the spectrum of care, technique and safety of ultrasound-guided corticosteroid injection therapy in patients with juvenile idiopathic arthritis and to propose an age-weight-joint-based corticosteroid dose protocol. A retrospective analysis was performed of 198 patients (ages 21 months to 28 years) referred for treatment of juvenile idiopathic arthritis with corticosteroid therapy. Symptomatic joints and tendon sheaths were treated as prescribed by the referring rheumatologist. An age-weight-joint-based dose protocol was developed and utilized for corticosteroid dose prescription. A total of 1,444 corticosteroid injections (1,340 joints, 104 tendon sheaths) were performed under US guidance. Injection sites included small, medium and large appendicular skeletal joints (upper extremity 497, lower extremity 837) and six temporomandibular joints. For patients with recurrent symptoms, 414 repeat injections were performed, with an average time interval of 17.7 months (range, 0.5-101.5 months) between injections. Complications occurred in 2.6% of injections and included subcutaneous tissue atrophy, skin hypopigmentation, erythema and pruritis. US-guided corticosteroid injection therapy provides dynamic, precise and safe treatment of a broad spectrum of joints and tendon sheaths throughout the entire pediatric musculoskeletal system. An age-weight-joint-based corticosteroid dose protocol is effective and integral to interdisciplinary care of patients with juvenile idiopathic arthritis.

Risk Factors for Neurodegeneration in Idiopathic REM sleep Behavior Disorder: A Multicenter Study

PubMed Central

Postuma, RB; Iranzo, A; Hogl, B; Arnulf, I; Ferini-Strambi, L; Manni, R; Miyamoto, T.; Oertel, W; Dauvilliers, Y; Ju, Y; Puligheddu, M; Sonka, K; Pelletier, A; Santamaria, J; Frauscher, B; Leu-Semenescu, S; Zucconi, M; Terzaghi, M; Miyamoto, M.; Unger, MM; Carlander, B; Fantini, ML; Montplaisir, JY

2018-01-01

Objective To assess whether risk factors for Parkinson’s disease and Dementia with Lewy bodies increase rate of defined neurodegenerative disease in idiopathic REM sleep behavior disorder Methods 12 centers administered a detailed questionnaire assessing risk factors for neurodegenerative synucleinopathy to patients with idiopathic REM sleep behavior disorder. Variables included demographics, lifestyle factors, pesticide exposures, occupation, co-morbid conditions, medication use, family history, and autonomic/motor symptoms. After 4-years follow-up, patients were assessed for dementia or parkinsonism. Disease risk was assessed with Kaplan-Meier analysis, and epidemiologic variables were compared between convertors and those still idiopathic using logistic regression. Results Of 305 patients, follow-up information was available for 279, of whom 93 (33.3%) developed defined neurodegenerative disease. Disease risk was 25% at 3 years, and 41% after 5 years. Patients who converted were older (difference=4.5 years, p<0.001), with similar sex distribution. Neither caffeine, smoking, nor alcohol exposure predicted conversion. Although occupation was similar between groups, those who converted had a lower likelihood of pesticide exposure (occupational insecticide=2.3% vs. 9.0%). Convertors were more likely to report family history of dementia (OR=2.09), without significant differences in Parkinson’s disease or sleep disorders. Medication exposures and medical history were similar between groups. Autonomic and motor symptoms were more common among those who converted. Risk factors for primary dementia and parkinsonism were generally similar, except for a notably higher clonazepam use in dementia convertors (OR=2.6). Interpretation Patients with idiopathic RBD are at very high risk of neurodegenerative synucleinopathy. Risk factor profiles between convertors and non-convertors have both important commonalities and differences. PMID:25767079

Long-Term Effects of Untreated Adolescent Idiopathic Scoliosis: A Review of the Literature

PubMed Central

Karavidas, Nikos; Moramarco, Marc; Moramarco, Kathryn

2016-01-01

Currently, adolescent idiopathic scoliosis (AIS) is principally regarded as benign, but some researchers have cited serious or extreme effects, including severe pain, cardiopulmonary compromise, social isolation, and even early death. Therefore, exploration of the long-term effects of AIS, the most common type of idiopathic scoliosis, is warranted. The purpose of this review was to examine the long-term studies on the natural history of AIS and/or reviews concerning the long-term effects of untreated AIS. A PubMed search was conducted using the key words idiopathic scoliosis, long-term effects and idiopathic scoliosis, natural history. For further analysis, references cited in those studies were reviewed for additional, related evidence not retrieved in the initial PubMed search. A review of the pertinent bibliography showed that older natural history studies did not distinguish between late-onset scoliosis (referred to in this paper as AIS) and early-onset scoliosis (EOS). The more recent studies offer such important distinction and reach to the general conclusion that untreated AIS does not lead to severe consequences with respect to signs and symptoms of scoliosis. It is possible that earlier studies may have included patient populations with EOS, leading to the perception of untreated scoliosis as having an unusually high morbidity rate. Studies on the long-term effects of AIS that specifically excluded EOS patients conclude that AIS is a benign disorder. This indicates that for research and reporting purposes, it is important to distinguishing between AIS and EOS. This will allow the practitioner and patient and their families to decide on an optimal treatment plan based on the most appropriate prognosis. PMID:27994795

The Prevalence of Idiopathic Scoliosis in Eleven Year-Old Korean Adolescents: A 3 Year Epidemiological Study

PubMed Central

Lee, Jin-Young; Moon, Seong-Hwan; Kim, Han Jo; Suh, Bo-Kyung; Nam, Ji Hoon; Jung, Jae Kyun; Lee, Hwan-Mo

2014-01-01

Purpose School screening allows for early detection and early treatment of scoliosis, with the purpose of reducing the number of patients requiring surgical treatment. Children between 10 and 14 years old are considered as good candidates for school screening tests of scoliosis. The purpose of the present study was to assess the epidemiological findings of idiopathic scoliosis in 11-year-old Korean adolescents. Materials and Methods A total of 37856 11-year-old adolescents were screened for scoliosis. There were 17110 girls and 20746 boys. Adolescents who were abnormal by Moiré topography were subsequently assessed by standardized clinical and radiological examinations. A scoliotic curve was defined as 10° or more. Results The prevalence of scoliosis was 0.19% and most of the curves were small (10° to 19°). The ratio of boys to girls was 1:5.5 overall. Sixty adolescents (84.5%) exhibited single curvature. Thoracolumbar curves were the most common type of curve identified, followed by thoracic and lumbar curves. Conclusion The prevalence of idiopathic scoliosis among 11-year-old Korean adolescents was 0.19%. PMID:24719147

Molecular analysis of HLA-DPB1 alleles in idiopathic systemic sclerosis patients and uranium miners with systemic sclerosis.

PubMed

Rihs, H P; Conrad, K; Mehlhorn, J; May-Taube, K; Welticke, B; Frank, K H; Baur, X

1996-03-01

According to clinical mainifestation and autoantibody pattern [anti-Scl-70, anti-centromere antibodies (ACAs)], systemic sclerosis is a connective tissue disease with heterogenous subgroups. PCR-sequence-specific-oligonucleotide typing was used to study the genetic association of HLA-DPB1 alleles in 54 patients with idiopathic systemic sclerosis, 26 uranium miners with systemic sclerosis and 70 unrelated healthy control subjects. Systemic sclerosis patients with and without former employment in mines were divided into two subgroups according to their scleroderma-typical autoantibody specificities--anti-Scl-70 positive and ACA positive--and third subgroup comprising the rest. Statistical analysis revealed a significantly increased frequency of DPB1*1301(p=0.0001, corrected p=0.011) in idiopathic anti-Scl-70-positive systemic sclerosis cases when compared with unexposed controls. In the same group, we observed an enhanced frequency of DPB1*0601 and *1701 alleles. Since these three alleles carry the information for a glutamic acid residue in position 69 of DPB1, we tested the association of this residue with anti-Scl-70 expression. A strong association between anti-Scl-70 positivity in idiopathic systemic sclerosis patients and amino acid residue 69 of DPB1 was observed when compared with anti-Scl-70-negative idiopathic systemic sclerosis patients (p=0.0009) or unrelated controls (p=0.0007). ACA expression was not associated with the presence of any DPB1 allele tested. The data show that anti-Scl-70 expression in idiopathic systemic sclerosis patients is linked with DPB1*1301 whereas anti-Scl-70-positive miners do not show such a DPB1 association. Futhermore, the data indicate that glutamate 69 of DPB1 might be involved in the susceptibility to idiopathic anti-Scl-70 expression.

Comparing the Roles of EUS, ERCP and MRCP in Idiopathic Acute Recurrent Pancreatitis.

PubMed

Safari, Mohammad Taghi; Miri, Mohammad Bager; Ebadi, Shahram; Shahrokh, Shabnam; Mohammad Alizadeh, Amir Houshang

2016-01-01

Acute recurrent pancreatitis (ARP) is defined as more than two attacks of acute pancreatitis with complete or almost complete resolution of symptoms and signs of pancreatitis between episodes. The initial evaluation fails to detect the cause of ARP in 10%-30% of patients, whose condition is classified as idiopathic ARP. Endoscopic ultrasound (EUS) has gained increasing attention as a useful imaging modality for the pancreas and the extrahepatic biliary tree. The close proximity of the pancreas to the digestive tract allows EUS to obtain detailed images of this organ. This review aims to record pancreaticobiliary endoscopic ultrasound (EUS) and other imaging modalities in the clinical management of patients with idiopathic ARP.

Idiopathic restrictive cardiomyopathy is part of the clinical expression of cardiac troponin I mutations

PubMed Central

Mogensen, Jens; Kubo, Toru; Duque, Mauricio; Uribe, William; Shaw, Anthony; Murphy, Ross; Gimeno, Juan R.; Elliott, Perry; McKenna, William J.

2003-01-01

Restrictive cardiomyopathy (RCM) is an uncommon heart muscle disorder characterized by impaired filling of the ventricles with reduced volume in the presence of normal or near normal wall thickness and systolic function. The disease may be associated with systemic disease but is most often idiopathic. We recognized a large family in which individuals were affected by either idiopathic RCM or hypertrophic cardiomyopathy (HCM). Linkage analysis to selected sarcomeric contractile protein genes identified cardiac troponin I (TNNI3) as the likely disease gene. Subsequent mutation analysis revealed a novel missense mutation, which cosegregated with the disease in the family (lod score: 4.8). To determine if idiopathic RCM is part of the clinical expression of TNNI3 mutations, genetic investigations of the gene were performed in an additional nine unrelated RCM patients with restrictive filling patterns, bi-atrial dilatation, normal systolic function, and normal wall thickness. TNNI3 mutations were identified in six of these nine RCM patients. Two of the mutations identified in young individuals were de novo mutations. All mutations appeared in conserved and functionally important domains of the gene. PMID:12531876

Torsional deformity of apical vertebra in adolescent idiopathic scoliosis.

PubMed

Kotwicki, Tomasz; Napiontek, Marek

2002-01-01

CT scans of structural thoracic idiopathic scoliosis were reviewed in nine patients admitted to our department for scoliosis surgery. The apical vertebra scans were chosen and the following parameters were evaluated: 1) alpha angle formed by the axis of vertebra and the axis of spinous process 2) beta concave and beta convex angle between the spinous process and the left and right transverse process, respectively, 3) gamma concave and gamma convex angle between the axis of vertebra and the left and right transverse process, respectively, 4) the rotation angle to the sagittal plane. The constant deviation of the spinous process towards the convex side of the curve was observed. The vertebral body itself was distorted towards the concavity of the curve. The angle between the spinous process and the transverse process was smaller on the convex side of the curve. The torsional, intravertebral deformity of the apical vertebra was a factor acting in the direction opposite to the rotation, in the sense to reduce the deformity of the spine in idiopathic scoliosis.