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Sample records for disease idiopathic hyperaldosteronism

  1. Analysis of adrenocortical hyperplasia by computed tomography in patients with Cushing's disease, idiopathic hyperaldosteronism and adrenogenital syndrome

    International Nuclear Information System (INIS)

    Komiya, Ichiro; Ohara, Noriko; Nagasawa, Yoshitaka; Asawa, Takayuki; Hashizume, Kiyoshi; Takasu, Nobuyuki; Yamada, Takashi.

    1994-01-01

    We assessed the usefulness and reliability of computed tomography (CT scan) in evaluating adrenal hyperplasia in 38 patients, including 14 with Cushing's disease, 17 with idiopathic hyperaldosteronism (IHA), and 7 with the adrenogenital syndrome (AGS). Eighty-two normal subjects were also examined. We analyzed the shape of the adrenal gland and quantitated its thickness, width and length. Visual inspection revealed V-shaped right adrenal glands in 100% of patients with Cushing's disease, 94% of patients with IHA, 100% of patients with AGS and in 41% of the normal subjects. Triangular left adrenal glands were observed in 100% of patients with Cushing's disease, 82% of patients with IHA, 67% of patients with AGS and in 12% of the normal subjects. Quantitative analysis showed that the right adrenal gland was significantly thicker and longer in patients with Cushing's disease, IHA and in those with AGS than in normal subjects. The right adrenal gland was significantly wider in the patients with Cushing's disease and AGS than in control subjects. The left adrenal gland was significantly wider and longer in patients with Cushing's disease and AGS than in the normal controls. Analysis of individual data indicated that the upper limit of normal for thickness of the right adrenal was 7 mm. Therefore, adrenal hyperplasia was strongly suggested when the right adrenal gland was more than 7 mm thick. Our findings suggest that the CT scan is useful and reliable in diagnosing adrenal hyperplasia. (author)

  2. Feline primary hyperaldosteronism: an emerging endocrine disease

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    Daniel Diola Bento

    2016-04-01

    Full Text Available ABSTRACT: The primary hyperaldosteronism, an endocrine disease increasingly identified in cats, is characterized by adrenal gland dysfunction that interferes with the renin-angiotensin-aldosterone system, triggering the hypersecretion of aldosterone. Pathophysiological consequences of excessive aldosterone secretion are related to increased sodium and water retention, and increased excretion of potassium, which induce hypertension and severe hypokalemia, respectively. The most common clinical findings in cats include: polydipsia, nocturia, polyuria, generalized weakness, neck ventroflexion, syncope, anorexia, weight loss, pendulous abdomen and blindness. Diagnosis is based on the evidence of hormonal hypersecretion with suppression of renin release, imaging and histopathological evaluation of adrenal glands. Treatment may be curative with adrenalectomy, in cases of unilateral disease, or conservative, through administration of aldosterone antagonists, potassium supplementation and antihypertensives. Prognosis varies from fair to good with the appropriate therapy. This article reviews the main aspects of primary aldosteronism in cats, providing the clinician with important information for the diagnosis of this disease.

  3. Clinical characteristics of aldosterone-producing microadenoma, macroadenoma, and idiopathic hyperaldosteronism in 93 patients with primary aldosteronism.

    Science.gov (United States)

    Omura, Masao; Sasano, Hironobu; Saito, Jun; Yamaguchi, Kunio; Kakuta, Yukio; Nishikawa, Tetsuo

    2006-11-01

    Primary aldosteronism (PA) due to aldosterone-producing adenoma (APA) is a form of surgically curable secondary hypertension, and distinguishing APA from idiopathic hyperaldosteronism (IHA) is important for treatment. We made a differential diagnosis between APA and IHA using imaging tests such as adrenal CT and MRI as well as adrenal venous sampling (AVS) in all 93 cases of PA presenting at our institutions over the last decade. We identified 27 patients with aldosterone-producing microadenoma (APmicroA), all of whom could be diagnosed by AVS but not by the imaging tests. Then, we compared the clinical and roent-genological findings of these 27 patients with those of 42 patients with aldosterone-producing macroadenoma (APmacroA) and of 24 patients with IHA. Using surgically removed adrenal tissues, histopathological examinations and immunohistochemical analyses of steroidogenic enzymes were conducted. The findings for APmicroA were similar to those for APmacroA, except with respect to the diameter of the adrenal adenomas. Endocrinological and roentgenological findings for APmicroA were similar to those for IHA, but not to those for APmacroA. The rate of cure of hypertension was much greater in patients with APmicroA than in patients with APmacroA after the unilateral adrenalectomy (odds ratio, 4.0; p=0.028). In conclusion, it is important to accurately diagnose APmicroA, in which the laterality of the hyperproduction of aldosterone is only detectable by AVS, and to treat these patients by unilateral adrenalectomy in order to avoid long-term medical treatment and prevent hypertensive vascular complications.

  4. Coexistence of Primary Hyperaldosteronism and Graves’ Disease, a Rare Combination of Endocrine Disorders: Is It beyond a Coincidence—A Case Report and Review of the Literature

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    S. S. C. Gunatilake

    2017-01-01

    Full Text Available Background. Primary hyperaldosteronism is a known cause for secondary hypertension. In addition to its effect on blood pressure, aldosterone exhibits proinflammatory actions and plays a role in immunomodulation/development of autoimmunity. Recent researches also suggest significant thyroid dysfunction among patients with hyperaldosteronism, but exact causal relationship is not established. Autoimmune hyperthyroidism (Graves’ disease and primary hyperaldosteronism rarely coexist but underlying mechanisms associating the two are still unclear. Case Presentation. A 32-year-old Sri Lankan female was evaluated for new onset hypertension in association with hypokalemia. She also had features of hyperthyroidism together with high TSH receptor antibodies suggestive of Graves’ disease. On evaluation of persistent hypokalemia and hypertension, primary hyperaldosteronism due to right-sided adrenal adenoma was diagnosed. She was rendered euthyroid with antithyroid drugs followed by right-sided adrenalectomy. Antithyroid drugs were continued up to 12 months, after which the patient entered remission of Graves’ disease. Conclusion. Autoimmune hyperthyroidism and primary hyperaldosteronism rarely coexist and this case report adds to the limited number of cases documented in the literature. Underlying mechanism associating the two is still unclear but possibilities of autoimmune mechanisms and autoantibodies warrant further evaluation and research.

  5. Adrenal incidentalomas. Primary hyperaldosteronism

    International Nuclear Information System (INIS)

    Murat, A.; Dupas, B.; Zenatti, M.; Aupetit-Faisant, B.; Tenenbaum, F.; Tabarin, A.; Barrat, J.L.; Gosse, P.; Olivier-Puel, F.; Leprat, F.; Trouette, H.; Laurent, F.; Roger, P.

    1993-01-01

    Adrenal incidentalomas are masses incidentally discovered at X rays, ultrasound or MRI examination of the abdomen. In 100 CT scans, one can expect to find two incidentalomas on average. The article by Murat and Dupas is dealing with the strategy of biological, morphological and scintigraphic examinations to be performed in such patients, to assess whether the tumor is of a benign or a malignant nature. Zenatti et al propose a detailed exploration of the aldosterone pathways, since adrenal carcinoma may be responsible for a specific profile of the serum concentrations of mineralo-steroids, compatible with a blockade of the last step of the aldosterone synthesis. The exploration of primary hyperaldosteronism requires biological and imaging techniques. Tabarin et al summarize the main biological parameters and tests available for the diagnosis of this condition and delineate the indications of imaging techniques, associated to hormonal tests to distinguish between adenoma and bilateral adrenal hyperplasia. (author). 104 refs

  6. Graves' disease and idiopathic intracranial hypertension

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    Manish Gutch

    2017-01-01

    Full Text Available Idiopathic intracranial hypertension (IIH is a central nervous system disorder characterized by raised intracranial pressure with normal cerebrospinal fluid composition and absence of any structural anomaly on neuroimaging. Among all endocrine disorders associated with the development of IIH, the association of hyperthyroidism and IIH is very rare with few cases reported till date. Thyroid disturbances have a unique association with IIH. Hypo- and hyper-thyroidism have been reported in association with this disorder. We present a rare case of a 25-year-old man with Graves' disease with intractable headache that was later investigated and attributed to development of IIH.

  7. The clinical profile of idiopathic Parkinson's disease in a South ...

    African Journals Online (AJOL)

    The clinical profile of idiopathic Parkinson's disease in a South African hospital complex - the influence of ethnicity and gender. Marcelle Smith, Girish Modi. Abstract. Background Idiopathic Parkinson's Disease (IPD) has not been well studied in Black African populations. Data on the demographics, phenotype differences ...

  8. Primary Hyperaldosteronism As A Risk Factor For Recurrent Nephrolithiasis

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    Ekamol Tantisattamo

    2012-06-01

    Hyperaldosteronism can cause hypercalciuria, phosphaturia, and hypocitraturia, all of which are risk factors for nephrolithiasis. Additionally, hyperaldosteronism and deoxycorticosterone mediated hypertension have been associated with hypocalcemia and secondary hyperparathyroidism. Our case augments earlier literature suggesting increased risk for nephrolithiasis in patients with hyperaldosteronism and suggests that hyperaldosteronism should be considered as a risk factor for patient with nephrolithiasis. It remains unclear if both primary and secondary hyperaldosteronism increase the relative risk for nephrolithiasis and the role of aldosterone receptor antagonist therapy for recurrent nephrolithiasis associated with hyperaldosteronism.

  9. Relative value of computed tomography scanning and venous sampling in establishing the cause of primary hyperaldosteronism

    International Nuclear Information System (INIS)

    Sheaves, R.; Goldin, J.; Reznek, R.H.

    1996-01-01

    The purpose of this study was to evaluate the relative merits of the postural simulation test, adrenal computed tomography (CT) and venous sampling in the differential diagnosis of patients presenting with primary hyperaldosteronism. The records of 20 patients presenting with primary hyperaldosteronism were reviewed retrospectively. There were 15 patients with a unilateral aldosterone-producing adenoma (APA), 4 patients with idiopathic hyperaldosteronism (IHA) and 1 patient with primary adrenal hyperplasia (PAH). Bilateral venous sampling of adrenal veins was attempted in all patients and blood collected for aldosterone and cortisol assay. Plasma aldosterone concentration increased after 4 h of standing in all cases of hyperplasia, but was also demonstrated in 10/15 patients with a surgically-proven APA. CT scanning correctly identified all 15 cases of APA and also classified correctly the remaining 5 cases of hyperplasia. CT scanning may be used alone to confirm the cause of hyperaldosteronism where postural studies suggest an adrenal adenoma, and such patients may be considered for early surgery. 21 refs

  10. Primary hyperaldosteronism in cats: expanding the diagnostic net

    NARCIS (Netherlands)

    Djajadiningrat-Laanen, S.C.

    2014-01-01

    Primary hyperaldosteronism or low-renin hyperaldosteronism in cats is characterized by inappropriately high aldosterone secretion from one or both adrenal glands, with systemic arterial hypertension and hypokalemia as leading clinical manifestations. In this thesis, non-tumorous primary

  11. Sleepiness in Idiopathic REM Sleep Behavior Disorder and Parkinson Disease.

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    Arnulf, Isabelle; Neutel, Dulce; Herlin, Bastien; Golmard, Jean-Louis; Leu-Semenescu, Smaranda; Cochen de Cock, Valérie; Vidailhet, Marie

    2015-10-01

    To determine whether patients with idiopathic and symptomatic RBD were sleepier than controls, and if sleepiness in idiopathic RBD predicted earlier conversion to Parkinson disease. The Epworth Sleepiness Scale (ESS) and its determinants were compared at the time of a video-polysomnography for an RBD diagnosis in patients with idiopathic RBD, in patients with Parkinson disease, and in controls. Whether sleepiness at time of RBD diagnosis predicted an earlier conversion to neurodegenerative diseases was retrospectively analyzed in the followed-up patients. The 75 patients with idiopathic RBD were sleepier (ESS: 7.8 ± 4.6) at the time of RBD diagnosis than 74 age- and sex-matched controls (ESS: 5.0 ± 3.6, P sleep measures. Among the 69 patients with idiopathic RBD who were followed up for a median 3 years (1-15 years), 16 (23.2%) developed parkinsonism (n = 6), dementia (n = 6), dementia plus parkinsonism (n = 2), and multiple system atrophy (n = 2). An ESS greater than 8 at time of RBD diagnosis predicted a shorter time to phenoconversion to parkinsonism and dementia, from RBD onset, and from RBD diagnosis (when adjusted for age and time between RBD onset and diagnosis). Sleepiness is associated with idiopathic REM sleep behavior disorder and predicts more rapid conversion to parkinsonism and dementia, suggesting it is an early marker of neuronal loss in brainstem arousal systems. © 2015 Associated Professional Sleep Societies, LLC.

  12. [Pseudohypoparathyroidism associated with hyperaldosteronism and polyglobulia].

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    Battaia, L; Pedrazzoli, M; Pachor, M L; Bambara, L M; Corrocher, R

    1984-04-07

    A new case of familial PHP, associated with polyglobulia and biochemical parameters of hyperaldosteronism has been described. This association represents a very rare entity. PHP has been documented by the common tests and the unresponsiveness of AMPc to PTH. The poliglobulia , which appears after a period of severe anaemia, needs now periodical blood subtraction; nevertheless a cerebral thrombosis with conseguent hemiparesis has recently occurred. The hyperaldosteronism has been documented by hypopotassiemia , a raised level of plasma aldosterone as well as suppressed plasma renin activity even after adequate stimulus.

  13. Graves' disease and idiopathic intracranial hypertension

    OpenAIRE

    Manish Gutch; Annesh Bhattacharjee; Sukriti Kumar; Durgesh Pushkar

    2017-01-01

    Idiopathic intracranial hypertension (IIH) is a central nervous system disorder characterized by raised intracranial pressure with normal cerebrospinal fluid composition and absence of any structural anomaly on neuroimaging. Among all endocrine disorders associated with the development of IIH, the association of hyperthyroidism and IIH is very rare with few cases reported till date. Thyroid disturbances have a unique association with IIH. Hypo- and hyper-thyroidism have been reported in assoc...

  14. Bone marrow stroma in idiopathic myelofibrosis and other haematological diseases. An immunohistochemical study

    DEFF Research Database (Denmark)

    Lisse, I; Hasselbalch, H; Junker, P

    1991-01-01

    Bone marrow stroma was investigated immunohistochemically in 31 patients with haematological diseases, mainly idiopathic myelofibrosis (n = 8) and related chronic myeloproliferative disorders (n = 14). The bone marrow from patients with idiopathic myelofibrosis and some CML patients showed marked...

  15. Assessment of disease activity in juvenile idiopathic arthritis. The number and the size of joints matter

    DEFF Research Database (Denmark)

    Berntson, Lillemor; Wernroth, Lisa; Fasth, Anders

    2007-01-01

    Variables for assessment of disease activity of juvenile idiopathic arthritis (JIA) were studied, in order to develop a disease activity score for children with JIA.......Variables for assessment of disease activity of juvenile idiopathic arthritis (JIA) were studied, in order to develop a disease activity score for children with JIA....

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

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    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

  17. A case report of hyperaldosteronism due to aldosteronoma

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    Rabiy Hashemi M

    1997-08-01

    Full Text Available Primary hyperaldosteronism is one of the few causes of hypertension that can be cured by surgery. Primary hyperaldosteronism is caused by adrenocortical adenoma or hyperplasia. It is important to differentiate between adrenal adenoma and hyperplasia because the preferred treatments are different. In all patients with new-onest or worsening hypertension the primary hyperaldosteronism should be considered as an etiology. Patients with primary hyperaldosteronism classically have hypertension with spontaneous hypokalemia. The serum sodium concentration is usually normal in patients with primary aldosteronism who are not taking diuretics. Weakness, fatigue, paresthesia, tetany and even paralysis may develop. Renin and angiotensin II are suppressed in both forms of primary hyperaldosteronism due to feedback. Polyuria may develop secondary to vasopressin resistance from chronic hyperkaliuria. Hypertension or eclampsia during pregnancy is common in women with primary hyperaldosteronism. Case report: A 42-years-old woman presented with headache, severe hypertension, general weakness, easy fatigability, vertigo, palpitation, visual disorders and nocturia. She had a past history of eclampsia 10 years ago. In laboratory investigation there was hypokalemia, elevated serum aldosterone, low renin activity and hyperkaliuria. In abdominal CT-scan there was a hypodense mass measuring 2 cm in diameter in her left adrenal gland. The patient had primary hyperaldosteronism due to aldosteronoma.

  18. Dependency and transfer incomes in idiopathic Parkinson's disease

    DEFF Research Database (Denmark)

    Starhof, Charlotte Chrom; Anker, Niels; Henriksen, Tove

    2014-01-01

    INTRODUCTION: Idiopathic Parkinson's disease (IPD) is a progressive neurodegenerative disorder affecting approximately 1% of the population above 65 years of age. The aim of this study was to define the estimated Danish IPD population and to elucidate source of income and labour market affiliation......-supportive. In the working age range (18-64 years), 25% were employed and 10% enrolled in supported employment. Compared with the age-adjusted general population, twice as many IPD patients were outside the ordinary labour market and, furthermore, the proportion receiving anticipatory pension was increased threefold...

  19. Secondary hyperaldosteronism, caused by abnormalities of the renal vessels, in clinical endocrinologist

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    Tatjana N. Markova

    2016-03-01

    Full Text Available Aldosterone levels increase in clinical practice may be due to primary or secondary hyperaldosteronism. Secondary hyperaldosteronism (CAA is a clinical syndrome caused by increased synthesis of renin juxtaglomerular apparatus of the kidneys in response to lower perfusion pressure in the afferent glomerular arteriole. This mechanism leads to activation of the renin-angiotensin-aldosterone system with a consequent increase in systemic blood pressure. Clinically manifested CAA secondary (systemic arterial hypertension, the most common form of parenchymal renal disease and renal vascular lesions. Renovascular diseases are a heterogeneous group of pathologies, which includes atherosclerosis of renal arteries, the most common cause; fibromuscular dysplasia (FMD; other more rare diseases, accompanied by a narrowing of the lumen of the renal vessels. Some authors consider the possibility of including a group of renovascular disease presence of multiple renal arteries. Тhe article presents the clinical cases of secondary hyperaldosteronism, caused by FMD and abnormal amounts of the renal arteries, manifested hypertension and increased levels of aldosterone in the blood. Carrying out a detailed search of the diagnostic determination of the ratio of aldosterone to plasma renin helped eliminate endocrine genesis of the disease and to identify the true cause of aldosteronism.

  20. Contribution of computerized tomography to diagnosis of primary hyperaldosteronism

    International Nuclear Information System (INIS)

    Hrabaneova, J.; Stribrna, J.; Bultasova, H.; Karasova, L.; Placer, Z.; Pinsker, P.

    1987-01-01

    Two cases are reported of computerized tomography (CT) examination for proof of suspect primary hyperaldosteronism caused by adenoma of the adrenals. The findings were then confirmed surgically and histologically. CT was again found to be an invaluable tool for differential diagnosis of this condition, which spared the patients demanding invasive examinations and clearly differentiated primary hyperaldosteronism from adrenal cortex hyperplasia. This is mainly important for the fact that adenoma or more rarely carcinoma causing primary hyperaldosteronism can surgically be removed. (L.O.). 2 figs., 2 tabs., 6 refs

  1. Netherton Syndrome in a Neonate with Possible Growth Hormone Deficiency and Transient Hyperaldosteronism

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    Chatziioannidis Ilias

    2015-01-01

    Full Text Available Netherton syndrome, a rare autosomal recessive genetic disorder, is classified as an ichthyosiform syndrome. In this report we present the case of a neonate with erythroderma shortly after birth, accompanied by severe hypernatremia, recurrent infections, transient hyperaldosteronism, and signs of growth hormone (GH deficiency. DNA molecular analysis in the SPINK5 gene revealed heterozygosity in our index patient for 238insG and 2468delA frameshift mutations in exons 4 and 26, respectively, in the maternal allele and 1431-12G>A splice-site mutation in intron 15 in the paternal allele as well as the missense variation E420K in homozygous state. Combination of the identified mutations along with transient hyperaldosteronism and possible GH deficiency have not been described before. Accordingly, the importance of early multidisciplinary approach is highlighted, in order to reach accurate diagnosis, initiate prompt treatment, and ensure survival with fewer disease complications.

  2. Idiopathic Parkinson's disease: vocal and quality of life analysis

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    Luiza Furtado e Silva

    2012-09-01

    Full Text Available OBJECTIVE: To compare voice and life quality of male patients with idiopathic Parkinson's disease, with individuals without disease (Control Group. METHODS: A cross-sectional study that evaluated the voice of individuals with Parkinson's disease, the group was composed of 27 subjects, aged from 39 to 79 years-old (average 59.96. The Control Group was matched on sex and age. Participants underwent voice recording. Perceptual evaluation was made using GRBASI scale, which considers G as the overall degree of dysphonia, R as roughness, B as breathiness, A as asthenia, S as strain and I as instability. The acoustic parameters analyzed were: fundamental frequency, jitter, shimmer, and harmonic to noise ratio (NHR. For vocal self-perception analysis, we used the Voice Related Quality of Life protocol. RESULTS: Fundamental frequency and jitter presented higher values in the Parkinson's group. NHR values were higher in the Control Group. Perceptual analysis showed a deviation ranging. The vocal disorder self-perception demonstrated a worse impact on quality of life. CONCLUSIONS: Individuals with Parkinson's disease have an altered voice quality and a negative impact on quality of life.

  3. [Primary hyperaldosteronism due to unilateral adrenal hyperplasia with surgical resolution].

    Science.gov (United States)

    Rubio-Puchol, O; Garzón-Pastor, S; Salom-Vendrell, C; Hernández-Mijares, A

    Unilateral adrenal hyperplasia is a rare cause of primary hyperaldosteronism (around a 3%) that has surgical treatment. A case of a patient with hypertension resistant to conventional therapy in treatment with 7 drugs who presented with primary hyperaldosteronism due to unilateral adrenal hyperplasia is presented. A left adrenalectomy was performed, and the patient had a good clinical response, with no need of any drug after 2 years of surgery. Unilateral adrenal hyperplasia is a different entity and it is not an asymmetric variant of the bilateral adrenal hyperplasia. In the study of patients with primary hyperaldosteronism and imaging tests with absence of adenoma is a diagnosis that must be considered before cataloguing patients with bilateral adrenal hyperplasia and start a medical treatment, because unilateral adrenal hyperplasia would have a surgical resolution. Copyright © 2016 SEH-LELHA. Publicado por Elsevier España, S.L.U. All rights reserved.

  4. The diffuse interstitial lung disease - with emphasis in the idiopathic interstitial pneumonias

    International Nuclear Information System (INIS)

    Bustillo P, Jose G; Pacheco, Pedro M; Matiz, Carlos; Ojeda, Paulina; Carrillo B, Jorge A.

    2003-01-01

    The term diffuse interstitial lung disease, it refers to those diseases that commit the interstice basically, the space between the membrane basal epithelial and endothelial, although the damage can also commit the outlying air spaces and the vessels; the supplement is centered in the diffuse interstitial lung illness of unknown cause; well-known as idiopathic interstitial pneumonias, making emphasis in the more frequents, the pulmonary fibrosis idiopathic or cryptogenic fibrosant alveolitis

  5. Hypokalemic paralysis due to primary hyperaldosteronism simulating gitelman′s syndrome

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    Kasifoglu Timucin

    2009-01-01

    Full Text Available Some diseases, such as Gitelman′s syndrome, Bartter′s syndrome, and primary hyperaldosteronism (Conn′s syndrome, may bear some similar clinical and laboratory findings. Their treatment modalities being different from one another, the need for a scrupulous diagnostic evaluation arises as far as clinical practice is concerned. In this report, we present a patient with Conn′s syndrome who was initially considered to have Gitelman′s syndrome due to displaying a few overlapping features of both diseases. We also give an account of the hardships encountered during the diagnostic evaluation.

  6. TAFRO syndrome: New subtype of idiopathic multicentric Castleman disease

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    Gordan Srkalovic

    2017-05-01

    Full Text Available Castleman disease (CD describes a group of three rare and poorly understood lymphoproliferative disorders that have heterogeneous clinical symptoms and common lymph node histopathological features. Unicentric CD (UCD involves a single region of enlarged nodes. Multicentric CD (MCD involves multiple regions of enlarged lymph nodes, constitutional symptoms, and organ dysfunction due to a cytokine storm often including interleukin 6. MCD is further divided into Human Herpes Virus-8 (HHV-8-associated MCD, which occurs in immunocompromised individuals, and HHV-8-negative/idiopathic MCD (iMCD. Recently, iMCD has been further sub-divided into patients with TAFRO syndrome, which involves thrombocytopenia (T, anasarca (A, fevers (F, reticulin myelofibrosis (R, organomegaly (O, and normal or only slightly elevated immunoglobulin levels, and those who do not have TAFRO syndrome. Non-TAFRO iMCD patients typically have thrombocytosis, less severe fluid accumulation, and hypergammaglobulinemia. iMCD patients with TAFRO syndrome may have a worse prognosis, but more research is needed.

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

    Science.gov (United States)

    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.

  8. Idiopathic inflammatory-demyelinating diseases of the central nervous system

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    Rovira Canellas, A. [Vall d' Hebron University Hospital, Magnetic Resonance Unit (I.D.I.), Department of Radiology, Barcelona (Spain); Rovira Gols, A. [Parc Tauli University Institute - UAB, UDIAT, Diagnostic Centre, Sabadell (Spain); Rio Izquierdo, J.; Tintore Subirana, M.; Montalban Gairin, X. [Vall d' Hebron University Hospital, Neuroimmunology Unit, Department of Neurology, Barcelona (Spain)

    2007-05-15

    Idiopathic inflammatory-demyelinating diseases (IIDDs) include a broad spectrum of central nervous system disorders that can usually be differentiated on the basis of clinical, imaging, laboratory and pathological findings. However, there can be a considerable overlap between at least some of these disorders, leading to misdiagnoses or diagnostic uncertainty. The relapsing-remitting and secondary progressive forms of multiple sclerosis (MS) are the most common IIDDs. Other MS phenotypes include those with a progressive course from onset (primary progressive and progressive relapsing) or with a benign course continuing for years after onset (benign MS). Uncommon forms of IIDDs can be classified clinically into: (1) fulminant or acute IIDDs, such as the Marburg variant of MS, Balo's concentric sclerosis, Schilder's disease, and acute disseminated encephalomyelitis; (2) monosymptomatic IIDDs, such as those involving the spinal cord (transverse myelitis), optic nerve (optic neuritis) or brainstem and cerebellum; and (3) IIDDs with a restricted topographical distribution, including Devic's neuromyelitis optica, recurrent optic neuritis and relapsing transverse myelitis. Other forms of IIDD, which are classified clinically and radiologically as pseudotumoral, can have different forms of presentation and clinical courses. Although some of these uncommon IIDDs are variants of MS, others probably correspond to different entities. MR imaging of the brain and spine is the imaging technique of choice for diagnosing these disorders, and together with the clinical and laboratory findings can accurately classify them. Precise classification of these disorders may have relevant prognostic and treatment implications, and might be helpful in distinguishing them from tumoral or infectious lesions, avoiding unnecessary aggressive diagnostic or therapeutic procedures. (orig.)

  9. Prevalence of asymptomatic coronary disease in fibrosing idiopathic interstitial pneumonias

    International Nuclear Information System (INIS)

    Cassagnes, Lucie; Gaillard, Vianney; Monge, Emmanuel; Faivre, Jean-Baptiste; Delhaye, Cédric; Molinari, Francesco; Petyt, Grégory; Hossein-Foucher, Claude; Wallaert, Benoit; Duhamel, Alain; Remy, Jacques; Remy-Jardin, Martine

    2015-01-01

    Background: Because of growing body of interest on the association between fibrosing idiopathic interstitial pneumonias (f-IIP) and ischaemic heart disease, we initiated this prospective study to evaluate the prevalence of asymptomatic coronary artery disease (CAD) in patients with f-IIP. Methods: Forty-two patients with f-IIP underwent noninvasive screening for CAD that included (a) a chest CT examination enabling calculation of the coronary artery calcium (CAC) score, then depiction of coronary artery stenosis; and (b) stress myocardial perfusion scintigraphy (MPS). Patients with significant coronary abnormalities, defined by a CAC score >400 or coronary artery stenosis >50% at CT and/or perfusion defect >5% at MPS, were referred to the cardiologist. Coronary angiography was indicated in presence of a perfusion defect >10% at MPS or significant left main or proximal left anterior descending stenosis whatever MPS findings. Results: Combining CT and MPS, significant abnormalities were detected in 32/42 patients (76%). The cardiologist: (a) did not consider further investigation in 21 patients (CT abnormalities but no ischaemia at MPS: 12/21; false-positive findings at MPS: 3/21; poor respiratory condition: 6/21); (b) proceeded to coronary angiography in 11 patients which confirmed significant stenoses in 5 patients (5/42; 12%). In the worst-case-scenario (i.e., inclusion of 6 patients with significant coronary artery abnormalities who were not investigated due to poor respiratory condition), the prevalence of CAD reached 26% (11/42). Conclusion: In the studied population of patients with f-IIP, asymptomatic CAD ranged between 12% and 26%

  10. Idiopathic inflammatory-demyelinating diseases of the central nervous system

    International Nuclear Information System (INIS)

    Rovira Canellas, A.; Rovira Gols, A.; Rio Izquierdo, J.; Tintore Subirana, M.; Montalban Gairin, X.

    2007-01-01

    Idiopathic inflammatory-demyelinating diseases (IIDDs) include a broad spectrum of central nervous system disorders that can usually be differentiated on the basis of clinical, imaging, laboratory and pathological findings. However, there can be a considerable overlap between at least some of these disorders, leading to misdiagnoses or diagnostic uncertainty. The relapsing-remitting and secondary progressive forms of multiple sclerosis (MS) are the most common IIDDs. Other MS phenotypes include those with a progressive course from onset (primary progressive and progressive relapsing) or with a benign course continuing for years after onset (benign MS). Uncommon forms of IIDDs can be classified clinically into: (1) fulminant or acute IIDDs, such as the Marburg variant of MS, Balo's concentric sclerosis, Schilder's disease, and acute disseminated encephalomyelitis; (2) monosymptomatic IIDDs, such as those involving the spinal cord (transverse myelitis), optic nerve (optic neuritis) or brainstem and cerebellum; and (3) IIDDs with a restricted topographical distribution, including Devic's neuromyelitis optica, recurrent optic neuritis and relapsing transverse myelitis. Other forms of IIDD, which are classified clinically and radiologically as pseudotumoral, can have different forms of presentation and clinical courses. Although some of these uncommon IIDDs are variants of MS, others probably correspond to different entities. MR imaging of the brain and spine is the imaging technique of choice for diagnosing these disorders, and together with the clinical and laboratory findings can accurately classify them. Precise classification of these disorders may have relevant prognostic and treatment implications, and might be helpful in distinguishing them from tumoral or infectious lesions, avoiding unnecessary aggressive diagnostic or therapeutic procedures. (orig.)

  11. Prevalence of asymptomatic coronary disease in fibrosing idiopathic interstitial pneumonias

    Energy Technology Data Exchange (ETDEWEB)

    Cassagnes, Lucie; Gaillard, Vianney [Department of Thoracic Imaging (EA 2694), Hospital Calmette, CHRU and Univ Lille 2 Nord de France, F-59000 Lille (France); Monge, Emmanuel [Department of Pulmonology, Center of Competence for Rare Pulmonary Diseases, Hospital Calmette, CHRU and Univ Lille 2 Nord de France, F-59000 Lille (France); Faivre, Jean-Baptiste [Department of Thoracic Imaging (EA 2694), Hospital Calmette, CHRU and Univ Lille 2 Nord de France, F-59000 Lille (France); Delhaye, Cédric [Department of Cardiology, Cardiology Hospital, CHRU and Univ Lille 2 Nord de France, F-59000 Lille (France); Molinari, Francesco [Department of Thoracic Imaging (EA 2694), Hospital Calmette, CHRU and Univ Lille 2 Nord de France, F-59000 Lille (France); Petyt, Grégory; Hossein-Foucher, Claude [Department of Nuclear Medicine, Hospital Salengro, CHRU and Univ Lille 2 Nord de France, F-59000 Lille (France); Wallaert, Benoit [Department of Pulmonology, Center of Competence for Rare Pulmonary Diseases, Hospital Calmette, CHRU and Univ Lille 2 Nord de France, F-59000 Lille (France); Duhamel, Alain [Department of Medical Statistics (EA 2694), Univ Lille Nord de France, F-59000 Lille (France); Remy, Jacques [Department of Thoracic Imaging (EA 2694), Hospital Calmette, CHRU and Univ Lille 2 Nord de France, F-59000 Lille (France); Remy-Jardin, Martine, E-mail: martine.remy@chru-lille.fr [Department of Thoracic Imaging (EA 2694), Hospital Calmette, CHRU and Univ Lille 2 Nord de France, F-59000 Lille (France)

    2015-01-15

    Background: Because of growing body of interest on the association between fibrosing idiopathic interstitial pneumonias (f-IIP) and ischaemic heart disease, we initiated this prospective study to evaluate the prevalence of asymptomatic coronary artery disease (CAD) in patients with f-IIP. Methods: Forty-two patients with f-IIP underwent noninvasive screening for CAD that included (a) a chest CT examination enabling calculation of the coronary artery calcium (CAC) score, then depiction of coronary artery stenosis; and (b) stress myocardial perfusion scintigraphy (MPS). Patients with significant coronary abnormalities, defined by a CAC score >400 or coronary artery stenosis >50% at CT and/or perfusion defect >5% at MPS, were referred to the cardiologist. Coronary angiography was indicated in presence of a perfusion defect >10% at MPS or significant left main or proximal left anterior descending stenosis whatever MPS findings. Results: Combining CT and MPS, significant abnormalities were detected in 32/42 patients (76%). The cardiologist: (a) did not consider further investigation in 21 patients (CT abnormalities but no ischaemia at MPS: 12/21; false-positive findings at MPS: 3/21; poor respiratory condition: 6/21); (b) proceeded to coronary angiography in 11 patients which confirmed significant stenoses in 5 patients (5/42; 12%). In the worst-case-scenario (i.e., inclusion of 6 patients with significant coronary artery abnormalities who were not investigated due to poor respiratory condition), the prevalence of CAD reached 26% (11/42). Conclusion: In the studied population of patients with f-IIP, asymptomatic CAD ranged between 12% and 26%.

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

    Science.gov (United States)

    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

  13. Anterior Hypopituitarism is Rare and Autoimmune Disease is Common in Adults with Idiopathic Central Diabetes Insipidus.

    LENUS (Irish Health Repository)

    2012-02-01

    Objective: Central diabetes insipidus is a rare clinical condition with a heterogenous aetiology. Up to 40% of cases are classified as idiopathic, though many of these are thought to have an autoimmune basis. Published data has 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. Design and Patients: We performed a retrospective review of the databases of two pituitary investigation units. This identified 39 patients with idiopathic diabetes insipidus. All had undergone MRI scanning and dynamic pituitary testing (either insulin tolerance testing or GHRH\\/arginine and short synacthen testing) to assess anterior pituitary function. Results: One patient had partial growth hormone deficiency; no other anterior pituitary hormonal deficits were found. 33% had at least one autoimmune disease in addition to central diabetes insipidus. Conclusions: 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.

  14. Progress in etiology, diagnosis, and therapy of idiopathic orbital inflammatory disease

    NARCIS (Netherlands)

    Bijlsma, W.R.

    2011-01-01

    Idiopathic orbital inflammation (IOI) is a disease with signs and symptoms of an orbital inflammatory lesion with after local and systemic evaluation no apparent cause. Little is known about the etiology of the disease. This study aimed to answer three questions: a) what etiologic factors are

  15. Addison's disease presenting with idiopathic intracranial hypertension in 24-year-old woman: a case report

    Directory of Open Access Journals (Sweden)

    Moore Peter

    2010-02-01

    Full Text Available Abstract Introduction Idiopathic intracranial hypertension can rarely be associated with an underlying endocrine disorder such as Cushing's syndrome, hyperthyroidism, or with administration of thyroxine or growth hormone. Though cases of idiopathic intracranial hypertension associated with Addison's disease in children have been reported, there is only one documented case report of this association in adults. We describe a case of an acute adrenal insufficiency precipitated by idiopathic intracranial hypertension in a Caucasian female. Case presentation A 24-year-old Caucasian woman was acutely unwell with a background of several months of generalised fatigue and intermittent headaches. She had unremarkable neurological and systemic examination with a normal computerised tomography and magnetic resonance imaging of the brain. Normal cerebrospinal fluid but increased opening pressure at lumbar puncture suggested intracranial hypertension. A flat short synacthen test and raised level of adrenocorticotrophic hormone were consistent with primary adrenal failure. Conclusion Addison's disease can remain unrecognised until precipitated by acute stress. This case suggests that idiopathic intracranial hypertension can rarely be associated with Addison's disease and present as an acute illness. Idiopathic intracranial hypertension is possibly related to an increase in the levels of arginine vasopressin peptide in serum and cerebrospinal fluid secondary to a glucocorticoid deficient state.

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

    Science.gov (United States)

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

    2015-05-01

    Some patients with interstitial lung disease (ILD) related to connective tissue disease (CTD) have a delayed diagnosis of the underlying CTD when the ILD is categorized as idiopathic. In this study, we evaluated the frequency of myositis autoantibodies in patients diagnosed with idiopathic ILD and investigated the clinical significance stemming from the presence of the antibodies. A total 32 patients diagnosed with idiopathic ILD were enrolled in this study. We analyzed a panel of 11 myositis autoantibody specificities in the patients using a line blot immunoassay. Then, we divided them into myositis autoantibody-positive and -negative groups and compared the clinical features and laboratory data between the two groups. Of the 32 idiopathic ILD patients, 12 patients had myositis autoantibodies encompassing 9 specificities, except for anti-Mi-2 and anti-PM-Scl 100 (12/32, 38%). Anti-synthetase autoantibodies including Jo-1, EJ, OJ, PL-7, and PL-12 were present in 7 patients (7/32, 22%). The group with myositis autoantibodies presented more frequently with the symptom of mechanic's hand and showed abnormal pulmonary function test results with low forced vital capacity, diffusing capacity for carbon monoxide, total lung capacity, and high lactate dehydrogenase values in blood when compared with the group without myositis antibodies. We strongly suggest that patients undergo an evaluation of myositis autoantibodies, if they are diagnosed with idiopathic ILD in the presence of clinical characteristics including mechanic's hand, arthralgia, and autoantibodies which are insufficient to make a diagnosis of a specific CTD category.

  17. Analysis of T Cell Subsets in Adult Primary/Idiopathic Minimal Change Disease: A Pilot Study

    Directory of Open Access Journals (Sweden)

    Francisco Salcido-Ochoa

    2017-01-01

    Full Text Available Aim. To characterise infiltrating T cells in kidneys and circulating lymphocyte subsets of adult patients with primary/idiopathic minimal change disease. Methods. In a cohort of 9 adult patients with primary/idiopathic minimal change recruited consecutively at disease onset, we characterized (1 infiltrating immune cells in the kidneys using immunohistochemistry and (2 circulating lymphocyte subsets using flow cytometry. As an exploratory analysis, association of the numbers and percentages of both kidney-infiltrating immune cells and the circulating lymphocyte subsets with kidney outcomes including deterioration of kidney function and proteinuria, as well as time to complete clinical remission up to 48 months of follow-up, was investigated. Results. In the recruited patients with primary/idiopathic minimal change disease, we observed (a a dominance of infiltrating T helper 17 cells and cytotoxic cells, comprising cytotoxic T cells and natural killer cells, over Foxp3+ Treg cells in the renal interstitium; (b an increase in the circulating total CD8+ T cells in peripheral blood; and (c an association of some of these parameters with kidney function and proteinuria. Conclusions. In primary/idiopathic minimal change disease, a relative numerical dominance of effector over regulatory T cells can be observed in kidney tissue and peripheral blood. However, larger confirmatory studies are necessary.

  18. Idiopathic pulmonary fibrosis and collagen vascular diseases - high resolution CT findings

    International Nuclear Information System (INIS)

    Ferreira Neto, Armando Leao; Mogami, Roberto; Marchiori, Edson; Capone, Domenico

    1996-01-01

    The aspects of the thorax high-resolution computed tomography of 15 patients with idiopathic pulmonary fibrosis and 11 patients with collagen vascular diseases are described and characterized mainly by the presence of reticular lesions with little cysts predominantly in the periphery and lower lobes. They may be associated with ground-glass lesions that, as usual, means areas of alveolitis. (author)

  19. Immunoglobulins of patients with idiopathic Addison's disease block the in vitro action of adrenocorticotropin

    NARCIS (Netherlands)

    Wulffraat, N. M.; Drexhage, H. A.; Bottazzo, G. F.; Wiersinga, W. M.; Jeucken, P.; van der Gaag, R.

    1989-01-01

    The presence of serum immunoglobulins (Ig) blocking ACTH-induced adrenal DNA synthesis and/or cortisol production was studied in 25 patients with idiopathic Addison's disease. For this purpose guinea pig adrenal segments kept in organ culture were exposed to ACTH and graded concentrations of patient

  20. Analysis of Parallel and Transverse Visual Cues on the Gait of Individuals with Idiopathic Parkinson's Disease

    Science.gov (United States)

    de Melo Roiz, Roberta; Azevedo Cacho, Enio Walker; Cliquet, Alberto, Jr.; Barasnevicius Quagliato, Elizabeth Maria Aparecida

    2011-01-01

    Idiopathic Parkinson's disease (IPD) has been defined as a chronic progressive neurological disorder with characteristics that generate changes in gait pattern. Several studies have reported that appropriate external influences, such as visual or auditory cues may improve the gait pattern of patients with IPD. Therefore, the objective of this…

  1. Reduced sympathetic activity in idiopathic rapid-eye-movement sleep behavior disorder and Parkinson's disease

    DEFF Research Database (Denmark)

    Sorensen, Gertrud Laura; Mehlsen, Jesper; Jennum, Poul

    2013-01-01

    More than 50% of patients with idiopathic REM sleep behavior disorder (iRBD) will develop Parkinson's disease or Lewy body dementia. In a previous study, we found attenuated heart rate responses in iRBD and Parkinson's disease patients during sleep. The current study aimed to evaluate heart rate...... variability further in order to identify possible changes in these components during wakefulness and sleep in patients with iRBD and Parkinson's disease....

  2. Objective and subjective analysis of women's voice with idiopathic Parkinson's disease

    Directory of Open Access Journals (Sweden)

    Riviana Rodrigues das Graças

    2012-07-01

    Full Text Available OBJECTIVE: To compare the voice quality of women with idiopathic Parkinson's disease and those without it. METHODS: An evaluation was performed including 19 female patients diagnosed with idiopathic Parkinson's disease, with an average age of 66 years, and 27 women with an average of 67 years-old in the Control Group. The assessment was performed by computed acoustic analysis and perceptual evaluation. RESULTS: Parkinson's disease patients presented moderate rough and unstable voice quality. The parameters of grade, roughness, and instability had higher scores in Parkinson's disease patients with statistically significant differences. Acoustic measures of Jitter and period perturbation quotient (PPQ significantly differ between groups. CONCLUSIONS: Parkinson's disease female individuals showed more vocal alterations compared to the Control Group, when both perceptual and acoustic evaluations were analyzed.

  3. Survey of Saccadic Parameters Using Videonystagmography in Patients with Idiopathic Parkinson's Disease and Normal Subjects

    Directory of Open Access Journals (Sweden)

    Reza Hosseinabadi

    2008-06-01

    Full Text Available Background and Aim: Patients with Parkinson’s disease manifest oculomotor abnormalities. This is the consequence of basal ganglia impairment. The most common abnormalities include increased saccade latency, hypometric saccades and decreased saccade velocity. The purpose of this study was comparison of saccadic parameters using videonystagmography in patients with idiopathic Parkinson’s disease and normal subjects.Materials and Methods: In this cross sectional study, saccadic movements were investigated in thirty patients with idiopathic Parkinson’s disease and thirty age matched subjects were 35-70 years old. Saccade latency, velocity and accuracy were quantitatively analyzed. Results: Results of this study indicated increased saccade latency, reduction of saccade velocity and accuracy in patients with Parkinson’s disease(P<0.001.Conclusion: This study showed that patients with Parkinson’s disease manifest saccadic deficits. This suggests dopaminergic control of these ocular movements.

  4. Rheumatoid Arthritis-Associated Interstitial Lung Disease and Idiopathic Pulmonary Fibrosis: Shared Mechanistic and Phenotypic Traits Suggest Overlapping Disease Mechanisms.

    Science.gov (United States)

    Paulin, Francisco; Doyle, Tracy J; Fletcher, Elaine A; Ascherman, Dana P; Rosas, Ivan O

    2015-01-01

    The prevalence of clinically evident interstitial lung disease in patients with rheumatoid arthritis is approximately 10%. An additional 33% of undiagnosed patients have interstitial lung abnormalities that can be detected with high-resolution computed tomography. Rheumatoid arthritis-interstitial lung disease patients have three times the risk of death compared to those with rheumatoid arthritis occurring in the absence of interstitial lung disease, and the mortality related to interstitial lung disease is rising. Rheumatoid arthritis-interstitial lung disease is most commonly classified as the usual interstitial pneumonia pattern, overlapping mechanistically and phenotypically with idiopathic pulmonary fibrosis, but can occur in a non-usual interstitial pneumonia pattern, mainly nonspecific interstitial pneumonia. Based on this, we propose two possible pathways to explain the coexistence of rheumatoid arthritis and interstitial lung disease: (i) Rheumatoid arthritis-interstitial lung disease with a non-usual interstitial pneumonia pattern may come about when an immune response against citrullinated peptides taking place in another site (e.g. the joints) subsequently affects the lungs; (ii) Rheumatoid arthritis-interstitial lung disease with a usual interstitial pneumonia pattern may represent a disease process in which idiopathic pulmonary fibrosis-like pathology triggers an immune response against citrullinated proteins that promotes articular disease indicative of rheumatoid arthritis. More studies focused on elucidating the basic mechanisms leading to different sub-phenotypes of rheumatoid arthritis-interstitial lung disease and the overlap with idiopathic pulmonary fibrosis are necessary to improve our understanding of the disease process and to define new therapeutic targets.

  5. Disease activity of idiopathic pulmonary fibrosis -value of high resolution CT-

    International Nuclear Information System (INIS)

    Lee, Jin Seong; Im, Jung Gi; Han, Man Chung; Kim, Chu Wan; Suh, Jin Suk

    1991-01-01

    Idiopathic pulmonary fibrosis (IPF) has characteristic clinical and pathologic features. In patients with uniform intra-alveolar cellularity, the process is often referred to as desquamative interstitial pneumonia. When alveolar septal fibrosis predominate, the process is known as usual interstitial pneumonia. Recently most investigators believe that desquamative interstitial pneumonia is the early stage and usual interstitial pneumonia is the late stage of the same disease process. The lone-term survival and the best response to treatment with corticosteroids is found in patients with marked disease activity and little fibrosis. Since disease activity is reflected by interstitial and intraalveolar cellularity, activity of idiopathic pulmonary fibrosis might result in opacification of air spaces on CT scans. There was no significant difference in estimating the visual HRCT scores of active area between two observers (p>0.05). Activity score of HRCT scan correlated significantly with improvement of DLCO/VA after corticosteroids treatment

  6. Disease activity of idiopathic pulmonary fibrosis -value of high resolution CT-

    Energy Technology Data Exchange (ETDEWEB)

    Lee, Jin Seong; Im, Jung Gi; Han, Man Chung; Kim, Chu Wan; Suh, Jin Suk [Seoul National University College of Medicine, Seoul (Korea, Republic of)

    1991-01-15

    Idiopathic pulmonary fibrosis (IPF) has characteristic clinical and pathologic features. In patients with uniform intra-alveolar cellularity, the process is often referred to as desquamative interstitial pneumonia. When alveolar septal fibrosis predominate, the process is known as usual interstitial pneumonia. Recently most investigators believe that desquamative interstitial pneumonia is the early stage and usual interstitial pneumonia is the late stage of the same disease process. The lone-term survival and the best response to treatment with corticosteroids is found in patients with marked disease activity and little fibrosis. Since disease activity is reflected by interstitial and intraalveolar cellularity, activity of idiopathic pulmonary fibrosis might result in opacification of air spaces on CT scans. There was no significant difference in estimating the visual HRCT scores of active area between two observers (p>0.05). Activity score of HRCT scan correlated significantly with improvement of DLCO/VA after corticosteroids treatment.

  7. Primary hyperaldosteronism diagnosed with adrenal vein sampling. Characteristics and follow-up after adrenalectomy in a Danish study

    DEFF Research Database (Denmark)

    Pedersen, Maria; Karlsen, Mona Aarenstrup; Ankjærgaard, Kasper L

    2016-01-01

    BACKGROUND: Primary hyperaldosteronism (PA), known as Mb Conn, is one of the most common forms of secondary hypertension in middle-aged adults. High plasma aldosterone has been associated with severe organ damage. The unilateral aldosterone-producing adenoma (lateralized disease) is a subtype of PA...... had higher blood pressure (BP) and lower serum potassium compared to patients with bilateral hyperplasia. No difference regarding age and gender distribution was detected. Despite lateralized disease diagnosed from AVS, the medical images were normal in 10 patients (28%). Follow-up of 30 patients who...

  8. Celiac disease as a potential cause of idiopathic portal hypertension: a case report

    Directory of Open Access Journals (Sweden)

    Zamani Farhad

    2009-02-01

    Full Text Available Abstract Introduction Idiopathic portal hypertension is a disorder of unknown etiology, clinically characterized by portal hypertension, splenomegaly and anemia secondary to hypersplenism. Case presentation A 54-year-old man was admitted to our hospital for evaluation of malaise, weight loss, abdominal swelling and lower limb edema. His paraclinical tests revealed pancytopenia, large ascites, splenomegaly and esophageal varices consistent with portal hypertension. Duodenal biopsy and serologic findings were compatible with celiac disease. His symptoms improved on a gluten-free diet, but his clinical course was further complicated with ulcerative jejunoileitis, and intestinal T-cell lymphoma. Conclusion It seems that celiac disease, by an increased immune reaction in the splenoportal axis, can result in the development of idiopathic portal hypertension in susceptible affected patients.

  9. Colonic Oxidative and Mitochondrial Function in Parkinson’s Disease and Idiopathic REM Sleep Behavior Disorder

    OpenAIRE

    Morén, C.; González-Casacuberta, Í.; Navarro-Otano, J.; Juárez-Flores, D.; Vilas, D.; Garrabou, G.; Milisenda, J. C.; Pont-Sunyer, C.; Catalán-García, M.; Guitart-Mampel, M.; Tobías, E.; Cardellach, F.; Valldeoriola, F.; Iranzo, A.; Tolosa, E.

    2017-01-01

    Objective To determine potential mitochondrial and oxidative alterations in colon biopsies from idiopathic REM sleep behavior disorder (iRBD) and Parkinson's disease (PD) subjects. Methods Colonic biopsies from 7 iRBD subjects, 9 subjects with clinically diagnosed PD, and 9 healthy controls were homogenized in 5% w/v mannitol. Citrate synthase (CS) and complex I (CI) were analyzed spectrophotometrically. Oxidative damage was assessed either by lipid peroxidation, through malondialdehyde and h...

  10. Toxocara Seroprevalence in Patients with Idiopathic Parkinson's Disease: Chance Association or Coincidence?

    Directory of Open Access Journals (Sweden)

    Tuncay Çelik

    2013-01-01

    Full Text Available Most cases of idiopathic Parkinson disease (IPD are believed to be due to a combination of genetic and environmental factors. The purpose of this study is to investigate the relationship between toxocariasis and Parkinson disease (PD. Patients were selected from people who were admitted to the Movement Disorders Branch, Neurology Department of Elazığ University Faculty of Medicine Elazığ, Turkey. We studied specific IgG antibodies against Toxocara canis (T. canis in 50 patients with idiopathic Parkinson and 50 healthy volunteers. We investigated the clinical history of three patients infected with T. canis. We also studied specific IgG antibodies against Toxoplasma gondii in these groups. Antibodies anti-Toxocara canis were found in 3 idiopathic PD (6% (P=0.121 and antibody titer was not found in control. A patient had history of the presence of dog in current dog ownership. We did not detect any statistically significant association between T. canis and IPD. But, we believe that further comprehensive studies are required for understanding whether there is a causal relation between toxocariasis and PD. We didn’t find possible association between Toxoplasma gondii and IPD (P=0.617.

  11. Idiopathic portal hypertension regarding thiopurine treatment in patients with inflammatory bowel disease.

    Science.gov (United States)

    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.

  12. Esophageal striated muscle contractions in patients with Chagas' disease and idiopathic achalasia

    Directory of Open Access Journals (Sweden)

    R.O. Dantas

    2002-06-01

    Full Text Available Chagas' disease causes degeneration and reduction of the number of intrinsic neurons of the esophageal myenteric plexus, with consequent absent or partial lower esophageal sphincter relaxation and loss of peristalsis in the esophageal body. The impairment of esophageal motility is seen mainly in the distal smooth muscle region. There is no study about esophageal striated muscle contractions in the disease. In 81 patients with heartburn (44 with esophagitis taken as controls, 51 patients with Chagas' disease (21 with esophageal dilatation and 18 patients with idiopathic achalasia (11 with esophageal dilatation we studied the amplitude, duration and area under the curve of esophageal proximal contractions. Using the manometric method and a continuous perfusion system we measured the esophageal striated muscle contractions 2 to 3 cm below the upper esophageal sphincter after swallows of a 5-ml bolus of water. There was no significant difference in striated muscle contractions between patients with heartburn and esophagitis and patients with heartburn without esophagitis. There was also no significant difference between patients with heartburn younger or older than 50 years or between men and women or in esophageal striated muscle contractions between patients with heartburn and Chagas' disease. The esophageal proximal amplitude of contractions was lower in patients with idiopathic achalasia than in patients with heartburn. In patients with Chagas' disease there was no significant difference between patients with esophageal dilatation and patients with normal esophageal diameter. Esophageal striated muscle contractions in patients with Chagas' disease have the same amplitude and duration as seen in patients with heartburn. Patients with idiopathic achalasia have a lower amplitude of contraction than patients with heartburn.

  13. Idiopathic gastroesophageal reflux disease in an adult horse.

    Science.gov (United States)

    Baker, Shannon J; Johnson, Philip J; David, Andrew; Cook, Cristi Reeves

    2004-06-15

    Chronic gastroesophageal reflux disease was diagnosed in a 22-year-old female Tennessee Walking Horse that had signs of bruxism and ptyalism. Esophageal ulceration was detected via endoscopy. Compared with the damage to the proximal portions of the esophagus, the severity of the ulceration increased toward the gastroesophageal junction. Esophageal ulceration attributable to chronic gastric acid reflux is usually secondary to pyloric outflow obstruction in horses. In the horse of this report, there was no evidence of either a chronic pyloric or duodenal obstruction that could have resulted in esophageal ulceration. Esophageal ulceration in this horse was attributed to gastroesophageal reflux disease, a common condition in humans in which the underlying abnormality is functional incompetence of the gastroesophageal junction. Treatment is directed at decreasing gastric acidity and protecting the ulcerated mucosa. In the horse of this report, treatment was unsuccessful and the horse was euthanatized; a physical cause of gastroesophageal reflux disease was not identified during an extensive postmortem examination.

  14. Effect of animal and vegetable protein intake on oxalate excretion in idiopathic calcium stone disease.

    Science.gov (United States)

    Marangella, M; Bianco, O; Martini, C; Petrarulo, M; Vitale, C; Linari, F

    1989-04-01

    Oxalate excretion was measured in healthy subjects and idiopathic calcium stone-formers on dietary regimens which differed in the type and amount of protein allowed; 24-h urine collections were obtained from 41 practising vegetarians and 40 normal persons on a free, mixed, "mediterranean" diet. Twenty idiopathic calcium stone-formers were also studied while on two low calcium, low oxalate diets which differed in that animal protein was high in one and restricted in the other. Vegetarians had higher urinary oxalate levels than controls and although the calcium levels were markedly lower, urinary saturation with calcium/oxalate was significantly higher. This mild hypercalciuria was interpreted as being secondary to both a higher intake and increased fractional intestinal absorption of oxalate. Changing calcium stone-formers from a high to a low animal protein intake produced a significant decrease in calcium excretion but there was no variation in urinary oxalate. As a result, the decrease in calcium oxalate saturation was only marginal and not significant. It was concluded that dietary animal protein has a minimal effect on oxalate excretion. Mild hyperoxaluria of idiopathic calcium stone disease is likely to be intestinal in origin. Calcium stone-formers should be advised to avoid an excess of animal protein but the risks of a vegetable-rich diet should also be borne in mind.

  15. Lifestyle, family history, and risk of idiopathic Parkinson disease

    DEFF Research Database (Denmark)

    Kenborg, Line; Lassen, Christina F.; Ritz, Beate

    2015-01-01

    The relationship between Parkinson disease (PD) and smoking has been examined in several studies, but little is known about smoking in conjunction with other behaviors and a family history of PD. Using unconditional logistic regression analysis, we studied individual and joint associations...

  16. Structural findings in the basal ganglia in genetically determined and idiopathic Parkinson's disease

    DEFF Research Database (Denmark)

    Reetz, Kathrin; Gaser, Christian; Klein, Christine

    2009-01-01

    manifest. Simple regression analyses with the UPDRS-III and disease duration score revealed a distinct more bilateral linear decrease of BG GMV in sPARKIN-MC than in iPD that may correspond to previous findings showing a symmetric reduction in putaminal (18)F-DOPA-uptake and bilateral manifestation...... (sPARKIN-MC) and idiopathic PD patients (iPD) after the occurrence of PD symptoms, reflecting the breakdown of compensatory mechanisms. Nine sPARKIN-MC, 14 iPD, and 24 controls were studied clinically and with voxel-based morphometry. Analysis of variance revealed mainly BG decrease of GMV in s...

  17. Continent Idiopathic Vesicovaginal Fistula Coexisting with Moyamoya Disease

    Directory of Open Access Journals (Sweden)

    İbrahim Güven Kartal

    2017-09-01

    Full Text Available Vesicovaginal fistula (VVF is the abnormal anatomic communication between the female bladder and vagina. Usually presents itself as continuous urinary incontinence. There are many etiologic risk factors such as obstetric trauma, pelvic surgery, infections, congenital abnormalities, foreign materials, malignancy and pelvic radiation (1. Due to high education and sociocultural levels, the incidence seems to be low in the developed countries. On the other hand, in the developing countries, there is an obviously high incidence and prevalence. Considering the low level of medical informative feed-back mechanisms and poor obstetrics health care services, it seems very hard to keep VVF patient data that can be used for epidemiological research studies. In those areas, due to high maternal mortality and obstetric complications, the incidence of VVF is significantly increased (2. In this paper, we report a female patient with known moyamoya disease and a stable right ovarian cyst who was regularly followed up by the departments of neurology, gynecology and presented with radiological and cystoscopy findings of incidentally diagnosed asymptomatic continent VVF.

  18. Effectiveness of acupuncture and bee venom acupuncture in idiopathic Parkinson's disease.

    Science.gov (United States)

    Cho, Seung-Yeon; Shim, So-Ra; Rhee, Hak Young; Park, Hi-Joon; Jung, Woo-Sang; Moon, Sang-Kwan; Park, Jung-Mi; Ko, Chang-Nam; Cho, Ki-Ho; Park, Seong-Uk

    2012-09-01

    This study aimed to explore the effectiveness of both acupuncture and bee venom acupuncture as adjuvant therapies for idiopathic Parkinson's disease. We recruited 43 adults with idiopathic Parkinson's disease who had been on a stable dose of antiparkinsonian medication for at least 1 month. They were randomly assigned to 1 of 3 groups: acupuncture, bee venom acupuncture, or control. All participants were assessed using the Unified Parkinson's Disease Rating Scale, the Parkinson's Disease Quality of Life Questionnaire, the Beck Depression Inventory, the Berg Balance Scale, and the time and number of steps required to walk 30 m. Treatment groups underwent stimulation of 10 acupuncture points using acupuncture or bee venom acupuncture twice a week for 8 weeks. The initial assessment was repeated at the completion of treatment. The control group did not receive any treatment. Participants in the bee venom acupuncture group showed significant improvement on the Unified Parkinson's Disease Rating Scale (total score, as well as parts II and III individually), the Berg Balance Scale, and the 30 m walking time. When compared to the control group, the bee venom acupuncture group experienced significantly greater improvement on the Unified Parkinson's Disease Rating Scale. In the acupuncture group, the Unified Parkinson's Disease Rating Scale (part III and total scores) and the Beck Depression Inventory showed significant improvement. The control group showed no significant changes in any outcome after 8 weeks. In this pilot study, both acupuncture and bee venom acupuncture showed promising results as adjuvant therapies for Parkinson's disease. Copyright © 2012 Elsevier Ltd. All rights reserved.

  19. Observations on sleep-disordered breathing in idiopathic Parkinson's disease.

    Directory of Open Access Journals (Sweden)

    Philipp O Valko

    Full Text Available BACKGROUND: This study has two main goals: 1. to determine the potential influence of dopaminergic drugs on sleep-disordered breathing (SDB in Parkinson's disease (PD and 2. to elucidate whether NREM and REM sleep differentially impact SDB severity in PD. METHODS: Retrospective clinical and polysomnographic study of 119 consecutive PD patients and comparison with age-, sex- and apnea-hypopnea-index-matched controls. RESULTS: SDB was diagnosed in 57 PD patients (48%. Apnea-hypopnea index was significantly higher in PD patients with central SDB predominance (n = 7; 39.3±16.7/h than obstructive SDB predominance (n = 50; 20.9±16.8/h; p = 0.003. All PD patients with central SDB predominance appeared to be treated with both levodopa and dopamine agonists, whereas only 56% of those with obstructive SDB predominance were on this combined treatment (p = 0.03. In the whole PD group with SDB (n = 57, we observed a significant decrease of apnea-hypopnea index from NREM to REM sleep (p = 0.02, while controls revealed the opposite tendency. However, only the PD subgroup with SDB and treatment with dopamine agonists showed this phenomenon, while those without dopamine agonists had a similar NREM/REM pattern as controls. CONCLUSIONS: Our findings suggest an ambiguous impact of dopamine agonists on SDB. Medication with dopamine agonists seems to enhance the risk of central SDB predominance. Loss of normal muscle atonia may be responsible for decreased SDB severity during REM sleep in PD patients with dopamine agonists.

  20. Associations of specific psychiatric disorders with isolated focal dystonia, and monogenic and idiopathic Parkinson's disease.

    Science.gov (United States)

    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.

  1. Ankle arthritis predicts polyarticular disease course and unfavourable outcome in children with juvenile idiopathic arthritis

    DEFF Research Database (Denmark)

    Esbjörnsson, Anna-Clara; Aalto, Kristiina; Broström, Eva W

    2015-01-01

    OBJECTIVES: To evaluate the occurrence, clinical characteristics and prognostic factors associated with ankle arthritis in children with juvenile idiopathic arthritis (JIA). METHODS: 440 children with JIA were followed for eight years in a prospective Nordic population-based cohort study. Data...... on remission was available for 427 of these children. Occurrence of clinically assessed ankle arthritis was analysed in relation to JIA category, clinical characteristics and remission data eight years after disease onset. RESULTS: In 440 children with JIA, 251 (57%) experienced ankle arthritis during...... the first eight years of disease. Ankle arthritis was least common in the persistent oligoarticular category (25%) and most common in children with extended oligoarticular (83%) and polyarticular RF-negative (85%) JIA. Children who developed ankle arthritis during the first year of disease were younger...

  2. Idiopathic Pulmonary Fibrosis: A Genetic Disease That Involves Mucociliary Dysfunction of the Peripheral Airways

    Science.gov (United States)

    Evans, Christopher M.; Fingerlin, Tasha E.; Schwarz, Marvin I.; Lynch, David; Kurche, Jonathan; Warg, Laura; Yang, Ivana V.; Schwartz, David A.

    2016-01-01

    Idiopathic pulmonary fibrosis (IPF) is an incurable complex genetic disorder that is associated with sequence changes in 7 genes (MUC5B, TERT, TERC, RTEL1, PARN, SFTPC, and SFTPA2) and with variants in at least 11 novel loci. We have previously found that 1) a common gain-of-function promoter variant in MUC5B rs35705950 is the strongest risk factor (genetic and otherwise), accounting for 30-35% of the risk of developing IPF, a disease that was previously considered idiopathic; 2) the MUC5B promoter variant can potentially be used to identify individuals with preclinical pulmonary fibrosis and is predictive of radiologic progression of preclinical pulmonary fibrosis; and 3) MUC5B may be involved in the pathogenesis of pulmonary fibrosis with MUC5B message and protein expressed in bronchiolo-alveolar epithelia of IPF and the characteristic IPF honeycomb cysts. Based on these considerations, we hypothesize that excessive production of MUC5B either enhances injury due to reduced mucociliary clearance or impedes repair consequent to disruption of normal regenerative mechanisms in the distal lung. In aggregate, these novel considerations should have broad impact, resulting in specific etiologic targets, early detection of disease, and novel biologic pathways for use in the design of future intervention, prevention, and mechanistic studies of IPF. PMID:27630174

  3. The role of nailfold capillaroscopy in interstitial lung diseases - can it differentiate idiopathic cases from collagen tissue disease associated interstitial lung diseases?

    Science.gov (United States)

    Çakmakçı Karadoğan, Dilek; Balkarlı, Ayşe; Önal, Özgür; Altınışık, Göksel; Çobankara, Veli

    2015-01-01

    Nailfold capillaroscopy (NFC) is a non-invasive diagnostic test that is mostly used for early diagnosis of collagen tissue diseases (CTDs). We aimed to evaluate whether NFC findings could be a clue for discriminating idiopathic interstitial lung diseases (ILD) from CTD associated ILDs (CTD-ILD). Additionally it was aimed to determine whether NFC could be helpful in discriminating usual interstitial pneumonia (UIP) pattern from non-specific interstitial pneumonia (NSIP) pattern. We grouped patients into three main groups: 15 CTD-ILD, 18 idiopathic ILD, and 17 patients in the control group. The CTD-ILD group was split into two subgroups: 8 patients with Sjögren's syndrome (SJS)-associated ILD and 7 with rheumatoid arthritis (RA)-associated ILD. The idiopathic-ILD group consisted of 10 idiopathic NSIP and 8 IPF patients. The control group consisted of 10 SJS and 7 RA patients without lung disease. None of the patients were on acute exacerbation at the time of examination, and none had Reynaud's phenomenon. Mean capillary density was significantly reduced only in the CTD-ILD group as compared to the control group (p= 0.006). In subgroup analysis, it was determined that RA-ILD, IPF, and SJS-ILD subgroups had more severe capillaroscopic abnormalities. Mean capillary density in patients with the UIP pattern was reduced compared to patients with the NSIP pattern and those in the control group; p values were 0.008 and nailfold capillaroscopic findings of patients with NSIP and UIP patterns. NFC findings can be helpful in discriminating UIP patterns from NSIP patterns. But to show its role in differentiating idiopathic disease, more studies with more patients are needed.

  4. Incidence of sarcopenia and dynapenia according to stage in patients with idiopathic Parkinson's disease.

    Science.gov (United States)

    Yazar, Tamer; Yazar, Hülya Olgun; Zayimoğlu, Emel; Çankaya, Soner

    2018-05-12

    In this study, the aim was to identify the incidence of sarcopenia and dynapenia according to disease stage among idiopathic Parkinson's disease (IPD) patients and collect data to illuminate precautions related to reducing the disease load. The study was completed with 166 patients divided by stage according to modified Hoehn and Yahr (HYR) criteria and 249 healthy volunteers aged from 18 to 39 and 68 to 75 years met the inclusion criteria. In our prospective and cross-sectional study, patients with IPD according to "UK Brain Bank" diagnostic criteria had the Unified Parkinson's Disease Rating Scale (UPDRS) and HYR scales applied. The patient and control groups had skeletal muscle mass index (SMMI), muscle power, and physical performance assessed. Diagnosis of sarcopenia used the European Working Group on Sarcopenia in Older People (EWGSOP) diagnostic criteria. In our study, in parallel with the increase in disease stage among IPD patients, the incidence of sarcopenia (led by severe sarcopenia) and dynapenia was high compared to that among the control group of the same age. In the early stages of chronic progressive diseases like IPD, identification of sarcopenia and dynapenia is important considering the limitations of disease-preventive effects in treatments applied after diagnosis.

  5. Distribution pattern of MRI abnormalities within the knee and wrist of juvenile idiopathic arthritis patients: signature of disease activity

    NARCIS (Netherlands)

    Nusman, Charlotte M.; Hemke, Robert; Schonenberg, Dieneke; Dolman, Koert M.; van Rossum, Marion A. J.; van den Berg, J. Merlijn; Kuijpers, Taco W.; Maas, Mario

    2014-01-01

    The aim of this study in clinically active juvenile idiopathic arthritis (JIA) was to assess the frequency and distribution pattern of synovitis as hallmark of disease and additional soft-tissue and bony abnormalities on MRI in the knee and wrist as two target joints. MRI datasets of 153 clinically

  6. The fecal microbiome in dogs with acute diarrhea and idiopathic inflammatory bowel disease.

    Directory of Open Access Journals (Sweden)

    Jan S Suchodolski

    Full Text Available BACKGROUND: Recent molecular studies have revealed a highly complex bacterial assembly in the canine intestinal tract. There is mounting evidence that microbes play an important role in the pathogenesis of acute and chronic enteropathies of dogs, including idiopathic inflammatory bowel disease (IBD. The aim of this study was to characterize the bacterial microbiota in dogs with various gastrointestinal disorders. METHODOLOGY/PRINCIPAL FINDINGS: Fecal samples from healthy dogs (n = 32, dogs with acute non-hemorrhagic diarrhea (NHD; n = 12, dogs with acute hemorrhagic diarrhea (AHD; n = 13, and dogs with active (n = 9 and therapeutically controlled idiopathic IBD (n = 10 were analyzed by 454-pyrosequencing of the 16S rRNA gene and qPCR assays. Dogs with acute diarrhea, especially those with AHD, had the most profound alterations in their microbiome, as significant separations were observed on PCoA plots of unweighted Unifrac distances. Dogs with AHD had significant decreases in Blautia, Ruminococcaceae including Faecalibacterium, and Turicibacter spp., and significant increases in genus Sutterella and Clostridium perfringens when compared to healthy dogs. No significant separation on PCoA plots was observed for the dogs with IBD. Faecalibacterium spp. and Fusobacteria were, however, decreased in the dogs with clinically active IBD, but increased during time periods of clinically insignificant IBD, as defined by a clinical IBD activity index (CIBDAI. CONCLUSIONS: Results of this study revealed a bacterial dysbiosis in fecal samples of dogs with various GI disorders. The observed changes in the microbiome differed between acute and chronic disease states. The bacterial groups that were commonly decreased during diarrhea are considered to be important short-chain fatty acid producers and may be important for canine intestinal health. Future studies should correlate these observed phylogenetic differences with functional changes in the intestinal

  7. MMP-7 is a predictive biomarker of disease progression in patients with idiopathic pulmonary fibrosis

    Directory of Open Access Journals (Sweden)

    Yasmina Bauer

    2017-03-01

    Full Text Available Idiopathic pulmonary fibrosis (IPF is a progressive interstitial lung disease with poor prognosis, which is characterised by destruction of normal lung architecture and excessive deposition of lung extracellular matrix. The heterogeneity of disease progression in patients with IPF poses significant obstacles to patient care and prevents efficient development of novel therapeutic interventions. Blood biomarkers, reflecting pathobiological processes in the lung, could provide objective evidence of the underlying disease. Longitudinally collected serum samples from the Bosentan Use in Interstitial Lung Disease (BUILD-3 trial were used to measure four biomarkers (metalloproteinase-7 (MMP-7, Fas death receptor ligand, osteopontin and procollagen type I C-peptide, to assess their potential prognostic capabilities and to follow changes during disease progression in patients with IPF. In baseline BUILD-3 samples, only MMP-7 showed clearly elevated protein levels compared with samples from healthy controls, and further investigations demonstrated that MMP-7 levels also increased over time. Baseline levels of MMP-7 were able to predict patients who had higher risk of worsening and, notably, baseline levels of MMP-7 could predict changes in FVC as early as month 4. MMP-7 shows potential to be a reliable predictor of lung function decline and disease progression.

  8. Idiopathic chondrolysis - diagnostic difficulties

    International Nuclear Information System (INIS)

    Kozlowski, K.; Scougall, J.; Royal Alexandra Hospital for Children, Sydney

    1984-01-01

    Four cases of idiopathic chondrolysis of the hip in three white girls and one Maori girl are reported. The authors stress the causes why a disease with characteristic clinical and radiographic appearances and normal biochemical findings presents diagnostic difficulties. It is suspected that idiopathic chondrolysis is a metabolic disorder of chondrocytes, triggered by environment circumstances in susceptible individuals. Idiopathic chondrolysis is probably one of the most common causes of coxarthrosis in women. (orig.)

  9. Cartilage oligomeric matrix protein in patients with juvenile idiopathic arthritis: relation to growth and disease activity

    DEFF Research Database (Denmark)

    Bjørnhart, Birgitte; Juul, Anders; Nielsen, Susan

    2009-01-01

    OBJECTIVE: Cartilage oligomeric matrix protein (COMP) has been identified as a prognostic marker of progressive joint destruction in rheumatoid arthritis. In this population based study we evaluated associations between plasma concentrations of COMP, disease activity, and growth velocity...... in patients with recent-onset juvenile idiopathic arthritis (JIA). COMP levels in JIA and healthy children were compared with those in healthy adults. Plasma levels of insulin-like growth factor I (IGF-1), which has been associated with COMP expression and growth velocity, were studied in parallel. METHODS......: 87 patients with JIA entered the study, including oligoarticular JIA (n = 34), enthesitis-related arthritis (n = 8), polyarticular rheumatoid factor (RF)-positive JIA (n = 2), polyarticular RF-negative JIA (n = 27), systemic JIA (n = 6), and undifferentiated JIA (n = 10). Plasma levels of COMP were...

  10. Neck Vibration Proprioceptive Postural Response Intact in Progressive Supranuclear Palsy unlike Idiopathic Parkinson’s Disease

    Directory of Open Access Journals (Sweden)

    Stefan Kammermeier

    2017-12-01

    Full Text Available Progressive supranuclear palsy (PSP and late-stage idiopathic Parkinson’s disease (IPD are neurodegenerative movement disorders resulting in different postural instability and falling symptoms. IPD falls occur usually forward in late stage, whereas PSP falls happen in early stages, mostly backward, unprovoked, and with high morbidity. Postural responses to sensory anteroposterior tilt illusion by bilateral dorsal neck vibration were probed in both groups versus healthy controls on a static recording posture platform. Three distinct anteroposterior body mass excursion peaks (P1–P3 were observed. 18 IPD subjects exhibited well-known excessive response amplitudes, whereas 21 PSP subjects’ responses remained unaltered to 22 control subjects. Neither IPD nor PSP showed response latency deficits, despite brainstem degeneration especially in PSP. The observed response patterns suggest that PSP brainstem pathology might spare the involved proprioceptive pathways and implies viability of neck vibration for possible biofeedback and augmentation therapy in PSP postural instability.

  11. Girl with idiopathic childhood hypercalcemia reveals new disease-causing CYP24A1 mutation

    DEFF Research Database (Denmark)

    Madsen, Jens Otto Broby; Sauer, Sabrina; Beck, Bodo

    2018-01-01

    of a 21 months old girl initially hospitalized due to excessive consumption of water and behavioral difficulties. Blood tests showed hypercalcemia, borderline high vitamin-D levels, and renal ultrasound revealed medullary nephrocalcinosis. An abnormality within the vitamin-D metabolism was suspected......CONTEXT: Idiopathic Infantile Hypercalcemia (IHH) was associated with vitamin-D supplementation in the 1950's. 50 years later mutations in the CYP241A gene, involved in the degradation of vitamin-D, have been identified as being a part of the etiology. CASE DESCRIPTION: We hereby report a case...... and genetic testing was performed. This revealed the patient to be compound heterozygous for a common (p.E143del) and a novel (likely) disease-causing mutation (p.H83D) in the CYP24A1 gene. The hypercalcemia normalized after calcium depleted diet and discontinuation of vitamin-D supplementation. CONCLUSIONS...

  12. Idiopathic pulmonary fibrosis: a holistic approach to disease management in the antifibrotic age.

    Science.gov (United States)

    Shaw, Jonathon; Marshall, Tracey; Morris, Helen; Hayton, Conal; Chaudhuri, Nazia

    2017-11-01

    Idiopathic pulmonary fibrosis (IPF) is the most common cause of interstitial lung disease (ILD) and carries a worse prognosis than many cancers. Until recently, there were no active treatment options available for patients with IPF, meaning palliation or lung transplantation in selected patients were the only options. The management of IPF has changed dramatically over the last decade with the advent of two antifibrotic agents; pirfenidone and nintedanib. These new agents have been shown to reduce decline in lung function and pirfenidone has been shown to reduce mortality. The changing landscape of IPF diagnosis and management present a number of issues that may be encountered including management of side effects related to antifibrotic therapy. This article aims to give an overview of the holistic approach to the management of patients with IPF, including antifibrotic management, symptom management and the invaluable role of the ILD specialist nurse.

  13. Idiopathic pleural panniculitis with recurrent pleural effusion not associated with Weber-Christian disease

    Directory of Open Access Journals (Sweden)

    Laperuta Paolo

    2016-01-01

    Full Text Available A 82-year-old patient with dyspnea and a recurrent history of pleural effusion was admitted into our unit. He performed a Chest computed tomography showing right pleural effusion. Video-assisted thoracoscopy (VATS exploratory showed parietal pleural thickening of adipose tissue. The surgical procedure consisted, therefore, in the execution of multiple biopsies of the parietal pleura which appeared covered, on the whole surface, by islands of adipose tissue, without macroscopic pathological aspects. After the procedure was performed pleurodesis with talc. The definitive histological examination consisted of normal mesothelial cells surrounded by fatty tissue infiltrated by small lymphocytes in a patient without skin lesions or visceral or systemic signs of inflammatory involvement of the adipose tissue. We reported a rare case of idiopathic pleural panniculitis with recurrent pleural effusion not associated with Weber-Christian disease.

  14. Comparison between the radiological manifestations of thoracic involvement in collagen vascular diseases and idiopathic pulmonary fibrosis

    International Nuclear Information System (INIS)

    Kirova, G.; Rashkov, R.; Georgiev, O.

    2002-01-01

    The purpose of the study is to compare the presentation and distribution of lung abnormalities seen in Collagen Vascular Diseases (CVD) with those specifics for Idiopathic Pulmonary Fibrosis (IPF). The HRCT scans of 92 patients fulfilling the ARA criteria's for the diagnosis of four different CVD were reviewed and compared with those of 18 patients with IPF. The presentations of three main patterns of lung disease were assessed into the both groups. In order to find out the trend distribution in each disease, the grade and severity of presentation for the main abnormalities were assessed, using a scoring system.The incidence of reticular lung abnormalities for the group of IPF is 100 % versus 57.3 % for the CVD (p<0.0009). At the same time CVD, except for PSS, had a low incidence of reticular diseases (37 %). The incidence of alveolar abnormalities in CVD (57.3 %) were similar as these in IPF (66.6 %) (p=NS). The severity of the disease was greatest in IPF and PSS without significant difference between them. Nevertheless of uniform character of the abnormalities in the rest of CVD, they were presented with lesser degree and severity. The main abnormalities, seen in pulmonary parenchyma in patients with IPF and CVD were similar but with different grade, severity and distribution. (authors)

  15. Three dimensional cerebral blood flow in patients with idiopathic Parkinson's disease

    International Nuclear Information System (INIS)

    Hata, Takashi

    1987-01-01

    Three dimensional local cerebral blood flow values were measured in 28 patients with idiopathic Parkinson's disease without dementia and 17 control subjects, by means of xenon enhanced CT method using low concentration cold xenon and autoradiographic strategy. The results demonstrated that local cerebral perfusion in the patients with Parkinson's disease decreased with close correlations with aging and severity of the clinical symptoms and signs. Stepwise multiregression analysis revealed that mean CBF values and 1-CBF values through thalamus and white matter decreased primarily depending on aging and degree of brain atrophy, whereas 1-CBF values through basal ganglia decreased depending on severity of disease. The spatial distributions of 1-CBF were maintained normally and symmetrically even in the severely affected cases or in those with hemiparkinsonism, therefore hyperfrontalities were well preserved in all of the patients. Acute intravenous administration of L-DOPA gave rise to a diffuse increase in 1-CBF only in the patients and the increment was more prominent in patients severely affected than in those mildly affected. It was concluded that reduction of 1-CBF in the basal ganglia and cortex may be attributed to hypometabolism in the mesostriatal and mesocortical dopaminergic system. (author)

  16. Three dimensional cerebral blood flow in patients with idiopathic Parkinson's disease

    Energy Technology Data Exchange (ETDEWEB)

    Hata, Takashi

    1987-07-01

    Three dimensional local cerebral blood flow values were measured in 28 patients with idiopathic Parkinson's disease without dementia and 17 control subjects, by means of xenon enhanced CT method using low concentration cold xenon and autoradiographic strategy. The results demonstrated that local cerebral perfusion in the patients with Parkinson's disease decreased with close correlations with aging and severity of the clinical symptoms and signs. Stepwise multiregression analysis revealed that mean CBF values and 1-CBF values through thalamus and white matter decreased primarily depending on aging and degree of brain atrophy, whereas 1-CBF values through basal ganglia decreased depending on severity of disease. The spatial distributions of 1-CBF were maintained normally and symmetrically even in the severely affected cases or in those with hemiparkinsonism, therefore hyperfrontalities were well preserved in all of the patients. Acute intravenous administration of L-DOPA gave rise to a diffuse increase in 1-CBF only in the patients and the increment was more prominent in patients severely affected than in those mildly affected. It was concluded that reduction of 1-CBF in the basal ganglia and cortex may be attributed to hypometabolism in the mesostriatal and mesocortical dopaminergic system.

  17. Emerging therapies for idiopathic pulmonary fibrosis, a progressive age-related disease

    Science.gov (United States)

    Mora, Ana L.; Rojas, Mauricio; Pardo, Annie; Selman, Moises

    2018-01-01

    Idiopathic pulmonary fibrosis (IPF) is a fatal age-associated disease that is characterized by progressive and irreversible scarring of the lung. The pathogenesis of IPF is not completely understood and current therapies are limited to those that reduce the rate of functional decline in patients with mild-to-moderate disease. In this context, new therapeutic approaches that substantially improve the survival time and quality of life of these patients are urgently needed. Our incomplete understanding of the pathogenic mechanisms of IPF and the lack of appropriate experimental models that reproduce the key characteristics of the human disease are major challenges. As ageing is a major risk factor for IPF, age-related cell perturbations such as telomere attrition, senescence, epigenetic drift, stem cell exhaustion, loss of proteostasis and mitochondrial dysfunction are becoming targets of interest for IPF therapy. In this Review, we discuss current and emerging therapies for IPF, particularly those targeting age-related mechanisms, and discuss future therapeutic approaches. PMID:29081515

  18. Unilateral adrenal hyperplasia is a usual cause of primary hyperaldosteronism. Results from a Swedish screening study

    Directory of Open Access Journals (Sweden)

    Sigurjonsdottir Helga

    2012-09-01

    Full Text Available Abstract Background The existence of unilateral adrenal hyperplasia (AH has been considered a rare cause of primary hyperaldosteronism (PA. Methods In a prospective study we screened for PA in a non-selected (NSP and selected hypertensive population (SP, to define the cause of PA. We included 353 consecutive patients with hypertension; age 20 to 88 years, 165 women and 188 men, from a university-based Hypertension and Nephrology Outpatient clinics (123 SP and two primary care centres, (230 NSP from the same catch-up area. Serum aldosterone and plasma renin activity (PRA were measured and the ARR calculated. Verifying diagnostic procedure was performed in patients with both elevated aldosterone and ARR. Patients diagnosed with PA were invited for adrenal venous sampling (AVS and offered laparoscopic adrenalectomy when AVS found the disease to be unilateral. Results After screening, 46 patients, 13% of the whole population (22.8% SP and 7.8% NSP had aldosterone and ARR above the locally defined cut-off limits (0.43 nmol/l and 1.28 respectively. After diagnostic verification, 20 patients (6% had PA, (14.5% SP and 1.4% NSP. Imaging diagnostic procedures with CT-scans and scintigraphy were inconclusive. AVS, performed in 15 patients verified bilateral disease in 4 and unilateral in 10 patients. One AVS failed. After laparoscopic adrenalectomy, 4 patients were found to have adenoma and 5 unilateral AH. One patient denied operation. Conclusion The prevalence of PA was in agreement with previous studies. The study finds unilateral PA common and unilateral AH as half of those cases. As may be suspected PA is found in much higher frequency in specialised hypertensive units compared to primary care centers. AVS was mandatory in diagnosis of unilateral PA.

  19. Overlap of disease susceptibility loci for rheumatoid arthritis and juvenile idiopathic arthritis

    Science.gov (United States)

    Hinks, Anne; Eyre, Steve; Ke, Xiayi; Barton, Anne; Martin, Paul; Flynn, Edward; Packham, Jon; Worthington, Jane; Thomson, Wendy

    2010-01-01

    Background Genome-wide association studies (GWAS) have been extremely successful in the search for susceptibility risk factors for complex genetic autoimmune diseases. As more studies are published, evidence is emerging of considerable overlap of loci between these diseases. In juvenile idiopathic arthritis (JIA), another complex genetic autoimmune disease, the strategy of using information from autoimmune disease GWAS or candidate gene studies to help in the search for novel JIA susceptibility loci has been successful, with confirmed association with two genes, PTPN22 and IL2RA. Rheumatoid arthritis (RA) is an autoimmune disease that shares similar clinical and pathological features with JIA and, therefore, recently identified confirmed RA susceptibility loci are also excellent JIA candidate loci. Objective To determine the overlap of disease susceptibility loci for RA and JIA. Methods Fifteen single nucleotide polymorphisms (SNPs) at nine RA-associated loci were genotyped in Caucasian patients with JIA (n=1054) and controls (n=3531) and tested for association with JIA. Allele and genotype frequencies were compared between cases and controls using the genetic analysis software, PLINK. Results Two JIA susceptibility loci were identified, one of which was a novel JIA association (STAT4) and the second confirmed previously published associations of the TRAF1/C5 locus with JIA. Weak evidence of association of JIA with three additional loci (Chr6q23, KIF5A and PRKCQ) was also obtained, which warrants further investigation. Conclusion All these loci are good candidates in view of the known pathogenesis of JIA, as genes within these regions (TRAF1, STAT4, TNFAIP3, PRKCQ) are known to be involved in T-cell receptor signalling or activation pathways. PMID:19674979

  20. Rasagiline: a review of its use in the treatment of idiopathic Parkinson's disease.

    Science.gov (United States)

    Hoy, Sheridan M; Keating, Gillian M

    2012-03-26

    Rasagiline (Azilect®), a selective, irreversible, monoamine oxidase-B inhibitor, is available in the EU, the US and in several other countries worldwide, including Canada and Israel. It is indicated for the treatment of idiopathic Parkinson's disease as monotherapy or as adjunctive therapy to levodopa in patients [corrected]with end-of-dose fluctuations in the EU and for the treatment of adult patients with the signs and symptoms of idiopathic Parkinson's disease in the US. This article reviews the pharmacological properties, therapeutic efficacy and tolerability of rasagiline as monotherapy or as adjunctive therapy to levodopa in patients with Parkinson's disease. Oral rasagiline as monotherapy or as adjunctive therapy to levodopa was effective in the symptomatic treatment of adult patients with Parkinson's disease participating in double-blind, placebo-controlled, multinational studies. In patients with early Parkinson's disease, monotherapy with rasagiline 1 mg/day (recommended dosage) significantly slowed the rate of worsening (i.e. an increase in the Unified Parkinson's Disease Rating Scale [UPDRS] score) in the ADAGIO and TEMPO studies, with the results from the ADAGIO study for rasagiline 1 mg/day suggesting a slowing of clinical progression. However, at the higher dosage of 2 mg/day, rasagiline met the primary endpoint in the TEMPO study and the first, but not the second, of three hierarchical primary endpoints in the ADAGIO study. Compared with delayed-start rasagiline monotherapy, early initiation was associated with a slower long-term progression of the clinical signs and symptoms of Parkinson's disease in the TEMPO study. As adjunctive therapy to levodopa in the LARGO and PRESTO studies, rasagiline 0.5 and/or 1 mg/day significantly reduced the total daily 'off' time (primary efficacy endpoint) and significantly improved the Clinical Global Impression score, the UPDRS activities of daily living subscale score during 'off' time and the UPDRS

  1. Magnetic resonance imaging of the small bowel in children with idiopathic inflammatory bowel disease: evaluation of disease activity

    Energy Technology Data Exchange (ETDEWEB)

    Alexopoulou, Efthymia; Loggitsi, Dimitra; Economopoulos, Nikos; Papakonstantinou, Olympia; Kelekis, Nikolaos L. [National and Kapodistrian University of Athens, General University Hospital, Second Department of Radiology, Athens (Greece); Roma, Eleftheria; Panagiotou, Ioanna; Pahoula, Ioanna [National and Kapodistrian University of Athens, Aghia Sofia Children' s Hospital, First Department of Paediatrics, Athens (Greece)

    2009-08-15

    Examinations using ionizing radiation are frequently used in the evaluation of disease activity in children affected by idiopathic inflammatory bowel disease (IBD). To develop an MR imaging protocol without the need for fluoroscopic insertion of an enteral tube and to assess the disease activity in children with IBD. Included in the study were 37 children (22 girls and 15 boys; age range 7-15 years, mean 11.67 years) with IBD who underwent MR imaging of the small bowel. Of these 37 children, 32 had Crohn disease and 5 had indeterminate colitis. A water solution containing herbal fibres was administered orally or through a nasogastric tube. Patients were imaged on a 1.5-T MR scanner with T1-weighted and {tau}2-weighted sequences followed by a dynamic study using 3-D T1-W images after intravenous administration of gadolinium. The percentage enhancement of the bowel wall was significantly increased in patients with abnormal C-reactive protein (CRP) values compared to patients with CRP values in the normal range (P<0.001). A relatively weak but significant correlation between percentage enhancement of the bowel wall and CRP values was noted during all phases of enhancement. This MR imaging protocol is a safe and well-tolerated method for evaluating disease activity and extraintestinal manifestations of IBD in children. (orig.)

  2. Magnetic resonance imaging of the small bowel in children with idiopathic inflammatory bowel disease: evaluation of disease activity

    International Nuclear Information System (INIS)

    Alexopoulou, Efthymia; Loggitsi, Dimitra; Economopoulos, Nikos; Papakonstantinou, Olympia; Kelekis, Nikolaos L.; Roma, Eleftheria; Panagiotou, Ioanna; Pahoula, Ioanna

    2009-01-01

    Examinations using ionizing radiation are frequently used in the evaluation of disease activity in children affected by idiopathic inflammatory bowel disease (IBD). To develop an MR imaging protocol without the need for fluoroscopic insertion of an enteral tube and to assess the disease activity in children with IBD. Included in the study were 37 children (22 girls and 15 boys; age range 7-15 years, mean 11.67 years) with IBD who underwent MR imaging of the small bowel. Of these 37 children, 32 had Crohn disease and 5 had indeterminate colitis. A water solution containing herbal fibres was administered orally or through a nasogastric tube. Patients were imaged on a 1.5-T MR scanner with T1-weighted and Τ2-weighted sequences followed by a dynamic study using 3-D T1-W images after intravenous administration of gadolinium. The percentage enhancement of the bowel wall was significantly increased in patients with abnormal C-reactive protein (CRP) values compared to patients with CRP values in the normal range (P<0.001). A relatively weak but significant correlation between percentage enhancement of the bowel wall and CRP values was noted during all phases of enhancement. This MR imaging protocol is a safe and well-tolerated method for evaluating disease activity and extraintestinal manifestations of IBD in children. (orig.)

  3. Integrated Genomics Reveals Convergent Transcriptomic Networks Underlying Chronic Obstructive Pulmonary Disease and Idiopathic Pulmonary Fibrosis.

    Science.gov (United States)

    Kusko, Rebecca L; Brothers, John F; Tedrow, John; Pandit, Kusum; Huleihel, Luai; Perdomo, Catalina; Liu, Gang; Juan-Guardela, Brenda; Kass, Daniel; Zhang, Sherry; Lenburg, Marc; Martinez, Fernando; Quackenbush, John; Sciurba, Frank; Limper, Andrew; Geraci, Mark; Yang, Ivana; Schwartz, David A; Beane, Jennifer; Spira, Avrum; Kaminski, Naftali

    2016-10-15

    Despite shared environmental exposures, idiopathic pulmonary fibrosis (IPF) and chronic obstructive pulmonary disease are usually studied in isolation, and the presence of shared molecular mechanisms is unknown. We applied an integrative genomic approach to identify convergent transcriptomic pathways in emphysema and IPF. We defined the transcriptional repertoire of chronic obstructive pulmonary disease, IPF, or normal histology lungs using RNA-seq (n = 87). Genes increased in both emphysema and IPF relative to control were enriched for the p53/hypoxia pathway, a finding confirmed in an independent cohort using both gene expression arrays and the nCounter Analysis System (n = 193). Immunohistochemistry confirmed overexpression of HIF1A, MDM2, and NFKBIB members of this pathway in tissues from patients with emphysema or IPF. Using reads aligned across splice junctions, we determined that alternative splicing of p53/hypoxia pathway-associated molecules NUMB and PDGFA occurred more frequently in IPF or emphysema compared with control and validated these findings by quantitative polymerase chain reaction and the nCounter Analysis System on an independent sample set (n = 193). Finally, by integrating parallel microRNA and mRNA-Seq data on the same samples, we identified MIR96 as a key novel regulatory hub in the p53/hypoxia gene-expression network and confirmed that modulation of MIR96 in vitro recapitulates the disease-associated gene-expression network. Our results suggest convergent transcriptional regulatory hubs in diseases as varied phenotypically as chronic obstructive pulmonary disease and IPF and suggest that these hubs may represent shared key responses of the lung to environmental stresses.

  4. Regional brain stem atrophy in idiopathic Parkinson's disease detected by anatomical MRI.

    Directory of Open Access Journals (Sweden)

    Thomas Jubault

    Full Text Available Idiopathic Parkinson's disease (PD is a neurodegenerative disorder characterized by the dysfunction of dopaminergic dependent cortico-basal ganglia loops and diagnosed on the basis of motor symptoms (tremors and/or rigidity and bradykinesia. Post-mortem studies tend to show that the destruction of dopaminergic neurons in the substantia nigra constitutes an intermediate step in a broader neurodegenerative process rather than a unique feature of Parkinson's disease, as a consistent pattern of progression would exist, originating from the medulla oblongata/pontine tegmentum. To date, neuroimaging techniques have been unable to characterize the pre-symptomatic stages of PD. However, if such a regular neurodegenerative pattern were to exist, consistent damages would be found in the brain stem, even at early stages of the disease. We recruited 23 PD patients at Hoenn and Yahr stages I to II of the disease and 18 healthy controls (HC matched for age. T1-weighted anatomical scans were acquired (MPRAGE, 1 mm3 resolution and analyzed using an optimized VBM protocol to detect white and grey matter volume reduction without spatial a priori. When the HC group was compared to the PD group, a single cluster exhibited statistical difference (p<0.05 corrected for false detection rate, 4287 mm3 in the brain stem, between the pons and the medulla oblongata. The present study provides in-vivo evidence that brain stem damage may be the first identifiable stage of PD neuropathology, and that the identification of this consistent damage along with other factors could help with earlier diagnosis in the future. This damage could also explain some non-motor symptoms in PD that often precede diagnosis, such as autonomic dysfunction and sleep disorders.

  5. Medical and surgical treatment of idiopathic granulomatous lobular mastitis: a benign inflammatory disease mimicking invasive carcinoma.

    Science.gov (United States)

    Gurleyik, Gunay; Aktekin, Ali; Aker, Fugen; Karagulle, Hikmet; Saglamc, Abdullah

    2012-03-01

    Idiopathic granulomatous lobular mastitis (IGLM) is a rare chronic inflammatory disease of the breast with obscure etiology that mimics invasive carcinoma both clinically and radiologically. The treatment of IGLM remains controversial. The aim of proper management is to use a combination of medical and surgical treatment of this benign condition to achieve a good cosmetic result and low recurrence rate. A retrospective analysis of 19 patients with IGLM is performed based on the findings of clinical, radiological, and pathological examinations. The results of two treatments are presented: medical treatment with oral corticosteroids, and consecutive surgical excision after a follow-up period of 20 months (range, 6-75 months). The majority of patients treated in this paper were young (mean, 34 years) parous women with a history of hormonal medication use. The main clinical finding is large, irregular, and painful mass. Hypoechoic lobulated, irregular tubular or oval shaped masses had been imaged by ultrasound. Mammographic findings were an ill-defined mass, enlarged axillary lymph nodes, asymmetric density, and architectural distortion. Diagnoses of IGLM had been established by cytological or histological examination. Symptoms subside and inflammatory changes regressed with medical treatment. The remaining lesions were excised by consecutive breast conserving surgery. The disease recurred in one patient during the follow-up period. IGLM is an inflammatory breast disease found in young women who present with a large painful irregular mass, which mimics carcinoma, as a physical change. Breast imaging modalities are not helpful to differentiate IGLM from invasive cancer. The correct diagnosis is established by cytological or histological examination. Medical treatment with corticosteroids provides significant regression of the inflammatory disease, allowing more conservative surgery. Consecutive surgical excision of the remaining lesions with good cosmetic results

  6. Bleomycin induces molecular changes directly relevant to idiopathic pulmonary fibrosis: a model for "active" disease.

    Science.gov (United States)

    Peng, Ruoqi; Sridhar, Sriram; Tyagi, Gaurav; Phillips, Jonathan E; Garrido, Rosario; Harris, Paul; Burns, Lisa; Renteria, Lorena; Woods, John; Chen, Leena; Allard, John; Ravindran, Palanikumar; Bitter, Hans; Liang, Zhenmin; Hogaboam, Cory M; Kitson, Chris; Budd, David C; Fine, Jay S; Bauer, Carla M T; Stevenson, Christopher S

    2013-01-01

    The preclinical model of bleomycin-induced lung fibrosis, used to investigate mechanisms related to idiopathic pulmonary fibrosis (IPF), has incorrectly predicted efficacy for several candidate compounds suggesting that it may be of limited value. As an attempt to improve the predictive nature of this model, integrative bioinformatic approaches were used to compare molecular alterations in the lungs of bleomycin-treated mice and patients with IPF. Using gene set enrichment analysis we show for the first time that genes differentially expressed during the fibrotic phase of the single challenge bleomycin model were significantly enriched in the expression profiles of IPF patients. The genes that contributed most to the enrichment were largely involved in mitosis, growth factor, and matrix signaling. Interestingly, these same mitotic processes were increased in the expression profiles of fibroblasts isolated from rapidly progressing, but not slowly progressing, IPF patients relative to control subjects. The data also indicated that TGFβ was not the sole mediator responsible for the changes observed in this model since the ALK-5 inhibitor SB525334 effectively attenuated some but not all of the fibrosis associated with this model. Although some would suggest that repetitive bleomycin injuries may more effectively model IPF-like changes, our data do not support this conclusion. Together, these data highlight that a single bleomycin instillation effectively replicates several of the specific pathogenic molecular changes associated with IPF, and may be best used as a model for patients with active disease.

  7. Bleomycin induces molecular changes directly relevant to idiopathic pulmonary fibrosis: a model for "active" disease.

    Directory of Open Access Journals (Sweden)

    Ruoqi Peng

    Full Text Available The preclinical model of bleomycin-induced lung fibrosis, used to investigate mechanisms related to idiopathic pulmonary fibrosis (IPF, has incorrectly predicted efficacy for several candidate compounds suggesting that it may be of limited value. As an attempt to improve the predictive nature of this model, integrative bioinformatic approaches were used to compare molecular alterations in the lungs of bleomycin-treated mice and patients with IPF. Using gene set enrichment analysis we show for the first time that genes differentially expressed during the fibrotic phase of the single challenge bleomycin model were significantly enriched in the expression profiles of IPF patients. The genes that contributed most to the enrichment were largely involved in mitosis, growth factor, and matrix signaling. Interestingly, these same mitotic processes were increased in the expression profiles of fibroblasts isolated from rapidly progressing, but not slowly progressing, IPF patients relative to control subjects. The data also indicated that TGFβ was not the sole mediator responsible for the changes observed in this model since the ALK-5 inhibitor SB525334 effectively attenuated some but not all of the fibrosis associated with this model. Although some would suggest that repetitive bleomycin injuries may more effectively model IPF-like changes, our data do not support this conclusion. Together, these data highlight that a single bleomycin instillation effectively replicates several of the specific pathogenic molecular changes associated with IPF, and may be best used as a model for patients with active disease.

  8. A young man with hemoptysis: Rare association of idiopathic pulmonary hemosiderosis, celiac disease and dilated cardiomyopathy

    Directory of Open Access Journals (Sweden)

    Gopi C Khilnani

    2015-01-01

    Full Text Available Idiopathic pulmonary hemosiderosis (IPH is a rare cause of recurrent diffuse alveolar hemorrhage (DAH with no specific treatment. Herein, we discuss a case of hemoptysis, who had IPH and other rare associations. A 19-year-old man presented with recurrent hemoptysis, generalized weakness and progressive dyspnea for 3 years. Earlier, he was diagnosed with anemia and was treated with blood transfusions and hematinics. On examination he had pallor, tachycardia and was underweight. Investigations revealed low level of hemoglobin (7.8 g/dl and iron deficiency. An electrocardiography (ECG showed sinus tachycardia, interventricular conduction delay and T-wave inversion. Echocardiography revealed dilated cardiomyopathy with left ventricular dysfunction. Computed tomography of the chest demonstrated bilateral diffuse ground glass opacity suggestive of pulmonary hemorrhage. Pulmonary function tests showed restrictive pattern with increased carbon monoxide diffusion. Bronchoalveolar lavage and transbronchial lung biopsy showed hemosiderin-laden macrophages. Patient could recall recurrent episodes of diarrhea in childhood. Serum antitissue transglutamase antibodies were raised (291.66 IU/ml, normal <30 IU/ml. Duodenal biopsy showed subtotal villous atrophy consistent with celiac disease. He was started on gluten-free diet, beta blockers and diuretics. After two years of treatment, he has been showing consistent improvement. Screening for CD is important in patients with IPH. Cardiomyopathy forms rare third association. All three show improvement with gluten-free diet.

  9. Clinical Significance of F 18 FP CIT Dual Time Point PET Imaging in Idiopathic Parkinson's Disease

    International Nuclear Information System (INIS)

    Oh, Jin Kyoung; Yoo, Ik Dong; Seo, Ye Young; Chung, Youg An; Yoo, Ie Ryung; Kim, Sung Hoon; Song, In Uk

    2011-01-01

    The purpose of this study was to investigate the diagnostic value of dual time point F 18 FP CIT PET imaging in idiopathic Parkinson's disease (PD). Twenty four patients with PD (mean age 69.6) and 18 healthy people (mean age 70.26) underwent two sequential PET/CT scans (dual time point imaging) at 90 and 210 min after F 18 FP CIT injection. Tracer activity of region of interest was measured in the caudate, putamen and a reference region in the brain from both time points. The outcome parameter was the striatooccipital ratio (SOR). Normal SOR values were obtained in the control group. The percent change in tracer activity between 90 and 210 min images was calculated. The SOR values and the percent change in tracer activity were compared between the patients and healthy control group. The SOR values for the caudate, anterior and posterior putamen at both 90 and 210 min images were significantly reduced in the patients with PD. The lowest P value was obtained for the anterior and posterior putamen (p<0.001) at both time points. There were significant differences of the percent change in tracer activity for the anterior and posterior putamen in the two groups (p=0.01) F 18 FP CIT PET scans at 90 and 210 min after injection are both able to diagnose PD. Therefore, the 90 min image by itself in sufficient for diagnosing PD.

  10. Genetic analysis of SCA2, 3 and 17 in idiopathic Parkinson's disease.

    Science.gov (United States)

    Lim, S W; Zhao, Y; Chua, E; Law, H Y; Yuen, Y; Pavanni, R; Wong, M C; Ng, I S; Yoon, C S; Puong, K Y; Lim, S H; Tan, E K

    2006-07-31

    Recent reports of SCA2 and SCA3 patients who presented with levodopa responsive parkinsonism have generated considerable interest as they have implications for genetic testing. It is unclear whether ethnic race alone or founder effects within certain geographical region explain such an association. In this study, we conducted genetic analysis of SCA2, 3, 17 in an ethnic Chinese cohort with early onset and familial Parkinson's disease (PD) and healthy controls. A total of 191 subjects comprising of 91 PD and 100 healthy controls were examined. We identified one positive case of SCA2 in an early-onset sporadic PD patient who had CAG 36 repeats, yielding a prevalence of 2.2% in early-onset sporadic PD patients and less than 1.0% in our study PD population. The size of the repeats was lower than the expanded repeats (38-57) in SCA2 patients with ataxia in our population. All the children of the patient were physically normal even though some of them carried the repeat expansion of similar size. No cases and controls were positive for SCA3 and SCA17. We do not think routine screening of SCA2, SCA3 and SCA17 for all idiopathic PD patients is cost-effective in our ethnic Chinese population. However, SCA2 should be a differential diagnosis in young onset sporadic PD when genetic mutations of other known PD genes have been excluded.

  11. Idiopathic Intracranial Hypertension After Surgical Treatment of Cushing Disease: Case Report and Review of Management Strategies.

    Science.gov (United States)

    Wagner, Jeffrey; Fleseriu, Cara M; Ibrahim, Aly; Cetas, Justin S

    2016-12-01

    Idiopathic intracranial hypertension (IIH) in patients with Cushing disease (CD), after treatment, is rarely described, in adults. The cause is believed to be multifactorial, potentially related to a relative decrease in cortisol after surgical resection or medical treatment of a corticotroph pituitary adenoma. We investigate our center's CD database (140 surgically and 60 medically [primary or adjunct] treated patients) for cases of IIH, describe our center's experience with symptomatic IIH, and review treatment strategies in adults with CD after transsphenoidal resection. We present the case of a 22-year-old woman who presented with worsening headache, nausea, vomiting, blurry vision, diplopia, visual loss, and facial numbness 14 weeks after surgical resection of adrenocorticotropic hormone-positive pituitary adenoma. Her CD had been in remission since surgery, with subsequent adrenal insufficiency (AI), which was initially treated with supraphysiologic glucocorticoid replacement, tapered down to physiologic doses at the time the IIH symptoms developed. Symptomatic IIH is rare in adult patients but can be severe and result in permanent vision loss. A high index of suspicion should be maintained and a fundus examination is necessary to exclude papilledema, whenever there are suggestive symptoms that initially may overlap with AI. It is possible that some cases of mild IIH are misdiagnosed as GC withdrawal or AI; however, further studies are needed. Treatment consists of reinitiation of higher steroid doses together with acetazolamide with or without cerebrospinal fluid diversion and the priority is to preserve vision and reverse any visual loss. Published by Elsevier Inc.

  12. Ultrasonographic examination in juvenile idiopathic arthritis is better than clinical examination for identification of intraarticular disease

    DEFF Research Database (Denmark)

    Nielsen, Hans Erik; Strandberg, Charlotte; Andersen, Steen

    2013-01-01

    The diagnosis of juvenile idiopathic arthritis (JIA) is formally based on clinical examination, but ultrasound (US) examination is used increasingly. Our purpose was to compare US and clinical examination in the assessment of synovitis in JIA.......The diagnosis of juvenile idiopathic arthritis (JIA) is formally based on clinical examination, but ultrasound (US) examination is used increasingly. Our purpose was to compare US and clinical examination in the assessment of synovitis in JIA....

  13. Arterial spin labelling reveals prolonged arterial arrival time in idiopathic Parkinson's disease.

    Science.gov (United States)

    Al-Bachari, Sarah; Parkes, Laura M; Vidyasagar, Rishma; Hanby, Martha F; Tharaken, Vivek; Leroi, Iracema; Emsley, Hedley C A

    2014-01-01

    Idiopathic Parkinson's disease (IPD) is the second most common neurodegenerative disease, yet effective disease modifying treatments are still lacking. Neurodegeneration involves multiple interacting pathological pathways. The extent to which neurovascular mechanisms are involved is not well defined in IPD. We aimed to determine whether novel magnetic resonance imaging (MRI) techniques, including arterial spin labelling (ASL) quantification of cerebral perfusion, can reveal altered neurovascular status (NVS) in IPD. Fourteen participants with IPD (mean ± SD age 65.1 ± 5.9 years) and 14 age and cardiovascular risk factor matched control participants (mean ± SD age 64.6 ± 4.2 years) underwent a 3T MRI scan protocol. ASL images were collected before, during and after a 6 minute hypercapnic challenge. FLAIR images were used to determine white matter lesion score. Quantitative images of cerebral blood flow (CBF) and arterial arrival time (AAT) were calculated from the ASL data both at rest and during hypercapnia. Cerebrovascular reactivity (CVR) images were calculated, depicting the change in CBF and AAT relative to the change in end-tidal CO2. A significant (p = 0.005) increase in whole brain averaged baseline AAT was observed in IPD participants (mean ± SD age 1532 ± 138 ms) compared to controls (mean ± SD age 1335 ± 165 ms). Voxel-wise analysis revealed this to be widespread across the brain. However, there were no statistically significant differences in white matter lesion score, CBF, or CVR between patients and controls. Regional CBF, but not AAT, in the IPD group was found to correlate positively with Montreal cognitive assessment (MoCA) scores. These findings provide further evidence of alterations in NVS in IPD.

  14. A case of low renin hyperaldosteronism considered to be aldosterone-producing adrenocortical adenoma by CT image of adrenal gland

    International Nuclear Information System (INIS)

    Hayashi, Kozo; Tsuchihashi, Yoshihiro; Ito, Kazuro; Ozono, Noboru

    1983-01-01

    A case was reported in which hypertension, hypopotassemia, low plasma renin activity and hyperaldosteronemia were observed. Imaging suggested adrenocortical adenoma, leading to the diagnosis of low renin hyperaldosteronism. (Chiba, N.)

  15. Alteration of the fecal microbiota and serum metabolite profiles in dogs with idiopathic inflammatory bowel disease.

    Science.gov (United States)

    Minamoto, Yasushi; Otoni, Cristiane C; Steelman, Samantha M; Büyükleblebici, Olga; Steiner, Jörg M; Jergens, Albert E; Suchodolski, Jan S

    2015-01-01

    Idiopathic inflammatory bowel disease (IBD) is a common cause of chronic gastrointestinal (GI) disease in dogs. The combination of an underlying host genetic susceptibility, an intestinal dysbiosis, and dietary/environmental factors are suspected as main contributing factors in the pathogenesis of canine IBD. However, actual mechanisms of the host-microbe interactions remain elusive. The aim of this study was to compare the fecal microbiota and serum metabolite profiles between healthy dogs (n = 10) and dogs with IBD before and after 3 weeks of medical therapy (n = 12). Fecal microbiota and metabolite profiles were characterized by 454-pyrosequencing of 16 S rRNA genes and by an untargeted metabolomics approach, respectively. Significantly lower bacterial diversity and distinct microbial communities were observed in dogs with IBD compared to the healthy control dogs. While Gammaproteobacteria were overrepresented, Erysipelotrichia, Clostridia, and Bacteroidia were underrepresented in dogs with IBD. The functional gene content was predicted from the 16 S rRNA gene data using PICRUSt, and revealed overrepresented bacterial secretion system and transcription factors, and underrepresented amino acid metabolism in dogs with IBD. The serum metabolites 3-hydroxybutyrate, hexuronic acid, ribose, and gluconic acid lactone were significantly more abundant in dogs with IBD. Although a clinical improvement was observed after medical therapy in all dogs with IBD, this was not accompanied by significant changes in the fecal microbiota or in serum metabolite profiles. These results suggest the presence of oxidative stress and a functional alteration of the GI microbiota in dogs with IBD, which persisted even in the face of a clinical response to medical therapy.

  16. Alteration of the fecal microbiota and serum metabolite profiles in dogs with idiopathic inflammatory bowel disease

    Science.gov (United States)

    Minamoto, Yasushi; Otoni, Cristiane C; Steelman, Samantha M; Büyükleblebici, Olga; Steiner, Jörg M; Jergens, Albert E; Suchodolski, Jan S

    2015-01-01

    Idiopathic inflammatory bowel disease (IBD) is a common cause of chronic gastrointestinal (GI) disease in dogs. The combination of an underlying host genetic susceptibility, an intestinal dysbiosis, and dietary/environmental factors are suspected as main contributing factors in the pathogenesis of canine IBD. However, actual mechanisms of the host-microbe interactions remain elusive. The aim of this study was to compare the fecal microbiota and serum metabolite profiles between healthy dogs (n = 10) and dogs with IBD before and after 3 weeks of medical therapy (n = 12). Fecal microbiota and metabolite profiles were characterized by 454-pyrosequencing of 16 S rRNA genes and by an untargeted metabolomics approach, respectively. Significantly lower bacterial diversity and distinct microbial communities were observed in dogs with IBD compared to the healthy control dogs. While Gammaproteobacteria were overrepresented, Erysipelotrichia, Clostridia, and Bacteroidia were underrepresented in dogs with IBD. The functional gene content was predicted from the 16 S rRNA gene data using PICRUSt, and revealed overrepresented bacterial secretion system and transcription factors, and underrepresented amino acid metabolism in dogs with IBD. The serum metabolites 3-hydroxybutyrate, hexuronic acid, ribose, and gluconic acid lactone were significantly more abundant in dogs with IBD. Although a clinical improvement was observed after medical therapy in all dogs with IBD, this was not accompanied by significant changes in the fecal microbiota or in serum metabolite profiles. These results suggest the presence of oxidative stress and a functional alteration of the GI microbiota in dogs with IBD, which persisted even in the face of a clinical response to medical therapy. PMID:25531678

  17. Idiopathic pulmonary fibrosis vs. pulmonary involvement of collagen vascular disease: HRCT findings

    International Nuclear Information System (INIS)

    Lim, Myung Kwan; Im, Jung Gi; Ahn, Joong Mo; Kim, Ji Hye; Lee, Seon Kyu

    1993-01-01

    Both idiopathic pulmonary fibrosis (IPF) and pulmonary involvement of collagen vascular disease (CVD) are well known cause of diffuse interstitial lung disease which lead to fibrosis and honeycombing. We analyzed HRCT findings of 33 patients with IPF and 14 patients with CVD in terms of predominant pattern, site of involvement, mediastinal lymph node enlargement, pleural change and pulmonary volume loss. Criteria of mediastinal lymph node enlargement and pleural thickening were 15 mm in long diameter and 3 mm, respectively. Volume loss of the lung was measured by using hilar height ratio (apex to hilum/hilum to diaphragmatic dome). Mean age was 61 years for IPF and 46 years for CVD and male: female ratio was 27:6, 4:10, respectively. Predominant HRCT pattern was honeycombing for IPF (63%), and ground-glass opacity for CVD (66%) (p=0.001). Predominantly, subpleural involvement was seen in 90% for IPF and 74% for CVD. Mediastinal lymph node enlargement was seen in 47% of the patient with IPF and 14% with CVD (p=0.004). Pleural thickening was seen in 97% of the patients with IPF and 42% with CVD (p=0.002). Pleural effusion was seen in 10% of the patients with IPF and 36% with CVD (p=0.009). Hilar height ratio of more than 1.5 was seen in 84% of the patients with IPF and 29% with CVD. In conclusion, our study shows that patients with IPF are prone to have more progressed stage of pulmonary fibrosis than the patients with CVD on HRCT

  18. Idiopathic pulmonary fibrosis vs. pulmonary involvement of collagen vascular disease: HRCT findings

    Energy Technology Data Exchange (ETDEWEB)

    Lim, Myung Kwan; Im, Jung Gi; Ahn, Joong Mo; Kim, Ji Hye; Lee, Seon Kyu [Seoul National University College of Medicine, Seoul (Korea, Republic of)

    1993-11-15

    Both idiopathic pulmonary fibrosis (IPF) and pulmonary involvement of collagen vascular disease (CVD) are well known cause of diffuse interstitial lung disease which lead to fibrosis and honeycombing. We analyzed HRCT findings of 33 patients with IPF and 14 patients with CVD in terms of predominant pattern, site of involvement, mediastinal lymph node enlargement, pleural change and pulmonary volume loss. Criteria of mediastinal lymph node enlargement and pleural thickening were 15 mm in long diameter and 3 mm, respectively. Volume loss of the lung was measured by using hilar height ratio (apex to hilum/hilum to diaphragmatic dome). Mean age was 61 years for IPF and 46 years for CVD and male: female ratio was 27:6, 4:10, respectively. Predominant HRCT pattern was honeycombing for IPF (63%), and ground-glass opacity for CVD (66%) (p=0.001). Predominantly, subpleural involvement was seen in 90% for IPF and 74% for CVD. Mediastinal lymph node enlargement was seen in 47% of the patient with IPF and 14% with CVD (p=0.004). Pleural thickening was seen in 97% of the patients with IPF and 42% with CVD (p=0.002). Pleural effusion was seen in 10% of the patients with IPF and 36% with CVD (p=0.009). Hilar height ratio of more than 1.5 was seen in 84% of the patients with IPF and 29% with CVD. In conclusion, our study shows that patients with IPF are prone to have more progressed stage of pulmonary fibrosis than the patients with CVD on HRCT.

  19. Elevated GM3 plasma concentration in idiopathic Parkinson's disease: A lipidomic analysis.

    Directory of Open Access Journals (Sweden)

    Robin B Chan

    Full Text Available Parkinson's disease (PD is a common neurodegenerative disease whose pathological hallmark is the accumulation of intracellular α-synuclein aggregates in Lewy bodies. Lipid metabolism dysregulation may play a significant role in PD pathogenesis; however, large plasma lipidomic studies in PD are lacking. In the current study, we analyzed the lipidomic profile of plasma obtained from 150 idiopathic PD patients and 100 controls, taken from the 'Spot' study at Columbia University Medical Center in New York. Our mass spectrometry based analytical panel consisted of 520 lipid species from 39 lipid subclasses including all major classes of glycerophospholipids, sphingolipids, glycerolipids and sterols. Each lipid species was analyzed using a logistic regression model. The plasma concentrations of two lipid subclasses, triglycerides and monosialodihexosylganglioside (GM3, were different between PD and control participants. GM3 ganglioside concentration had the most significant difference between PD and controls (1.531±0.037 pmol/μl versus 1.337±0.040 pmol/μl respectively; p-value = 5.96E-04; q-value = 0.048; when normalized to total lipid: p-value = 2.890E-05; q-value = 2.933E-03. Next, we used a collection of 20 GM3 and glucosylceramide (GlcCer species concentrations normalized to total lipid to perform a ROC curve analysis, and found that these lipids compare favorably with biomarkers reported in previous studies (AUC = 0.742 for males, AUC = 0.644 for females. Our results suggest that higher plasma GM3 levels are associated with PD. GM3 lies in the same glycosphingolipid metabolic pathway as GlcCer, a substrate of the enzyme glucocerebrosidase, which has been associated with PD. These findings are consistent with previous reports implicating lower glucocerebrosidase activity with PD risk.

  20. MRI of idiopathic orbital inflammation and lymphoid disease with lesions in extraocular muscle

    International Nuclear Information System (INIS)

    Matsuda, Chiharu; Kotake, Fumio; Kawanishi, Masayuki; Saito, Kazuhiro; Abe, Kimihiko

    2004-01-01

    Of the disorders accompanied by hypertrophy of the extraocular muscles, differentiating between idiopathic orbital inflammation and malignant lymphoma is difficult but important to treatment and prognosis. In this study using MRI, shape, signal intensity, and enhancement effects were compared between idiopathic orbital inflammation and lymphoproliferative lesions. The subjects were 27 patients (8 with idiopathic orbital inflammation, 1 with reactive lymphoid hyperplasia, 3 with atypical lymphoid hyperplasia, and 15 with malignant lymphoma) and 10 normal controls. The evaluation items were: thickness of extraocular muscles, number of extraocular muscles involved signal intensity of extraocular muscles, and enhancement effects on extraocular muscles. When compared to control subjects (p<0.05) the attachment portion of extraocular muscles were significantly thicker in the patients with idiopathic orbital inflammation, atypical lymphoid hyperplasia, or malignant lymphoma; the most marked hypertrophy was observed in patients with malignant lymphoma. The number of extraocular muscles involved was 1.5 (mean) in the patients with idiopathic orbital inflammation, 1 in the patient with reactive lymphoid hyperplasia, 1.7 (mean) in the patients with atypical lymphoid hyperplasia, and 5.1 (mean) in those with malignant lymphoma. The signal intensity ratio on T1W-images did not significantly differ between the patients and controls for all the disorders investigated. Signal intensity ratio on T2W-images significantly differed between patients with atypical lymphoid hyperplasia or malignant lymphoma and the controls (p<0.05) but not between patients with idiopathic orbital inflammation and controls. Signal intensity ratio after contrast enhancement differed significantly only between patients with idiopathic orbital inflammation and controls (p<0.05). (author)

  1. NFATc3 and VIP in Idiopathic Pulmonary Fibrosis and Chronic Obstructive Pulmonary Disease.

    Directory of Open Access Journals (Sweden)

    Anthony M Szema

    Full Text Available Idiopathic pulmonary fibrosis (IPF and chronic obstructive pulmonary disease (COPD are both debilitating lung diseases which can lead to hypoxemia and pulmonary hypertension (PH. Nuclear Factor of Activated T-cells (NFAT is a transcription factor implicated in the etiology of vascular remodeling in hypoxic PH. We have previously shown that mice lacking the ability to generate Vasoactive Intestinal Peptide (VIP develop spontaneous PH, pulmonary arterial remodeling and lung inflammation. Inhibition of NFAT attenuated PH in these mice suggesting a connection between NFAT and VIP. To test the hypotheses that: 1 VIP inhibits NFAT isoform c3 (NFATc3 activity in pulmonary vascular smooth muscle cells; 2 lung NFATc3 activation is associated with disease severity in IPF and COPD patients, and 3 VIP and NFATc3 expression correlate in lung tissue from IPF and COPD patients. NFAT activity was determined in isolated pulmonary arteries from NFAT-luciferase reporter mice. The % of nuclei with NFAT nuclear accumulation was determined in primary human pulmonary artery smooth muscle cell (PASMC cultures; in lung airway epithelia and smooth muscle and pulmonary endothelia and smooth muscle from IPF and COPD patients; and in PASMC from mouse lung sections by fluorescence microscopy. Both NFAT and VIP mRNA levels were measured in lungs from IPF and COPD patients. Empirical strategies applied to test hypotheses regarding VIP, NFATc3 expression and activity, and disease type and severity. This study shows a significant negative correlation between NFAT isoform c3 protein expression levels in PASMC, activity of NFATc3 in pulmonary endothelial cells, expression and activity of NFATc3 in bronchial epithelial cells and lung function in IPF patients, supporting the concept that NFATc3 is activated in the early stages of IPF. We further show that there is a significant positive correlation between NFATc3 mRNA expression and VIP RNA expression only in lungs from IPF patients

  2. Measuring the progression of idiopathic Parkinson's disease with [123I] β-CIT SPECT

    International Nuclear Information System (INIS)

    Staffen, W.; Mair, A.; Unterrainer, J.; Trinka, E.; Ladurner, G.

    2000-01-01

    Idiopathic Parkinson's disease (PD) is the most common neuro degenerative disorder. An important step in diagnosing the disease has been achieved with the development of the cocaine derivative [ 123 I] β-CIT for single photon emission computed tomography (SPECT). The aim of this study was to demonstrate the disease progression by repeated measuring presynaptic dopamine transporter density and relating it to clinical data. The presynaptic dopamine, transporter density of 15 PD patients was measured two times with a mean interval of 15 months. All patients were clinically assessed at the time of the experiments according to the classification scheme of Hoehn and Yahr. 11 healthy volunteers were used as a control group. [ 123 I] β-CIT was injected intravenously and measured with a triple-headed camera twenty hours later. The pictures were evaluated semi quantitatively by using the ratio of specific to non-displaceable binding. Presynaptic dopamine transporter density differed significantly between controls and PD patients. A significant correlation between imaging data and clinical stages (H/Y I 27 %, H/Y II -40 %, H/Y III 58 %) was observed for the patient group in the initial experiment. The subsequent decrease of dopamine transporter binding depended on the initial clinical stage (H/Y I -6.81 %; H/Y II -6.05 %; H/Y III -1.25 %) of the patients, and regression analysis revealed that. 91.4 % of the variance of the second measurement were predicted by the initial measurement. No correlations were found for age, gender and disease progression. All patients were treated with L-DOPA and those given a higher dose showed a more rapid decrease of dopamine transporter density. This result could be interpreted as an indication for in vivo neurotoxicity of high concentrations of L-DOPA. We conclude that combining [ 123 I] β-CIT with SPECT imaging is not only a powerful tool for diagnosing PD patients, but may also be used to demonstrate neuro degeneration in vivo. (author)

  3. Basal ganglia dysfunction in idiopathic REM sleep behaviour disorder parallels that in early Parkinson's disease.

    Science.gov (United States)

    Rolinski, Michal; Griffanti, Ludovica; Piccini, Paola; Roussakis, Andreas A; Szewczyk-Krolikowski, Konrad; Menke, Ricarda A; Quinnell, Timothy; Zaiwalla, Zenobia; Klein, Johannes C; Mackay, Clare E; Hu, Michele T M

    2016-08-01

    SEE POSTUMA DOI101093/AWW131 FOR A SCIENTIFIC COMMENTARY ON THIS ARTICLE: Resting state functional magnetic resonance imaging dysfunction within the basal ganglia network is a feature of early Parkinson's disease and may be a diagnostic biomarker of basal ganglia dysfunction. Currently, it is unclear whether these changes are present in so-called idiopathic rapid eye movement sleep behaviour disorder, a condition associated with a high rate of future conversion to Parkinson's disease. In this study, we explore the utility of resting state functional magnetic resonance imaging to detect basal ganglia network dysfunction in rapid eye movement sleep behaviour disorder. We compare these data to a set of healthy control subjects, and to a set of patients with established early Parkinson's disease. Furthermore, we explore the relationship between resting state functional magnetic resonance imaging basal ganglia network dysfunction and loss of dopaminergic neurons assessed with dopamine transporter single photon emission computerized tomography, and perform morphometric analyses to assess grey matter loss. Twenty-six patients with polysomnographically-established rapid eye movement sleep behaviour disorder, 48 patients with Parkinson's disease and 23 healthy control subjects were included in this study. Resting state networks were isolated from task-free functional magnetic resonance imaging data using dual regression with a template derived from a separate cohort of 80 elderly healthy control participants. Resting state functional magnetic resonance imaging parameter estimates were extracted from the study subjects in the basal ganglia network. In addition, eight patients with rapid eye movement sleep behaviour disorder, 10 with Parkinson's disease and 10 control subjects received (123)I-ioflupane single photon emission computerized tomography. We tested for reduction of basal ganglia network connectivity, and for loss of tracer uptake in rapid eye movement sleep

  4. Increased pulsatility index supports diagnosis of vascular parkinsonism versus idiopathic Parkinson's disease.

    Science.gov (United States)

    Caba, L M; Ferrairó, J I T; Torres, I M; Costa, J F V; Muñoz, R B; Martin, A L

    2017-12-29

    The diagnosis of vascular parkinsonism (VP) is based on a series of clinical criteria and neuroimaging findings. An increase in transcranial Doppler ultrasonography pulsatility index (PI) has been described as a frequent finding in patients with VP. We aimed to confirm this association and to determine the PI value with the highest sensitivity and specificity for diagnosis of VP. PI was determined in all patients admitted to Hospital Universitari i Politècnic La Fe due to parkinsonism between January 2012 and June 2016. We assessed the probability of having VP based on PI values in patients with a definite diagnosis of either VP or idiopathic Parkinson's disease (IPD). A ROC curve was created to determine the PI value with the highest sensitivity and specificity. We assessed a total of 146 patients with suspected parkinsonism; 54 (37%) were diagnosed with IPD and 15 (10%) with VP. Patients with VP were significantly older than those with IPD (mean age of 79 vs 68.5, P=.00144) and had a higher PI (median of 1.29 [IQR: 1.09-1.38] vs 0.96 [IQR: 0.89-1.16], P=.01328). In our sample, a PI of 1.09 conferred 84% sensitivity and 70% specificity. In our series, the PI was significantly higher in patients with VP than in those with IPD. We therefore support the use of transcranial Doppler ultrasonography for the initial assessment of elderly patients with akinetic-rigid syndrome. Copyright © 2017 Sociedad Española de Neurología. Publicado por Elsevier España, S.L.U. All rights reserved.

  5. Voice- and swallow-related quality of life in idiopathic Parkinson's disease.

    Science.gov (United States)

    van Hooren, Michel R A; Baijens, Laura W J; Vos, Rein; Pilz, Walmari; Kuijpers, Laura M F; Kremer, Bernd; Michou, Emilia

    2016-02-01

    This study explores whether changes in voice- and swallow-related QoL are associated with progression of idiopathic Parkinson's disease (IPD). Furthermore, it examines the relationship between patients' perception of both voice and swallowing disorders in IPD. Prospective clinical study, quality of life (QoL). One-hundred mentally competent IPD patients with voice and swallowing complaints were asked to answer four QoL questionnaires (Voice Handicap Index, MD Anderson Dysphagia Inventory, Visual Analog Scale [VAS] voice, and Dysphagia Severity Scale [DSS]). Differences in means for the QoL questionnaires and their subscales within Hoehn and Yahr stage groups were calculated using one-way analysis of variance. The relationship between voice- and swallow-related QoL questionnaires was determined with the Spearman correlation coefficient. Scores on both voice and swallow questionnaires suggest an overall decrease in QoL with progression of IPD. A plateau in QoL for VAS voice and the DSS was seen in the early Hoehn and Yahr stages. Finally, scores on voice-related QoL questionnaires were significantly correlated with swallow-related QoL outcomes. Voice- and swallow-related QoL decreases with progression of IPD. A significant association was found between voice- and swallow-related QoL questionnaires. Healthcare professionals can benefit from voice- and swallow-related QoL questionnaires in a multidimensional voice- or swallow-assessment protocol. The patient's perception of his/her voice and swallowing disorders and its impact on QoL in IPD should not be disregarded. 2b. © 2015 The American Laryngological, Rhinological and Otological Society, Inc.

  6. Colonic Oxidative and Mitochondrial Function in Parkinson’s Disease and Idiopathic REM Sleep Behavior Disorder

    Directory of Open Access Journals (Sweden)

    C. Morén

    2017-01-01

    Full Text Available Objective. To determine potential mitochondrial and oxidative alterations in colon biopsies from idiopathic REM sleep behavior disorder (iRBD and Parkinson’s disease (PD subjects. Methods. Colonic biopsies from 7 iRBD subjects, 9 subjects with clinically diagnosed PD, and 9 healthy controls were homogenized in 5% w/v mannitol. Citrate synthase (CS and complex I (CI were analyzed spectrophotometrically. Oxidative damage was assessed either by lipid peroxidation, through malondialdehyde and hydroxyalkenal content by spectrophotometry, or through antioxidant enzyme levels of superoxide dismutase-2 (SOD2, glutathione peroxidase-1 (Gpx1, and catalase (CAT by western blot. The presence of mitochondrial DNA (mtDNA deletions was assessed by long PCR and electrophoresis. Results. Nonsignificant trends to CI decrease in both iRBD (45.69±18.15; 23% decrease and PD patients (37.57±12.41; 37% decrease were found compared to controls (59.51±12.52, p: NS. Lipid peroxidation was maintained among groups (iRBD: 27.46±3.04, PD: 37.2±3.92, and controls: 31.71±3.94; p: NS. Antioxidant enzymes SOD2 (iRBD: 2.30±0.92, PD: 1.48±0.39, and controls: 1.09±0.318 and Gpx1 (iRBD 0.29±0.12, PD: 0.56±0.33, and controls: 0.38±0.16 did not show significant differences between groups. CAT was only detected in 2 controls and 1 iRBD subject. One iRBD patient presented a single mtDNA deletion.

  7. Colonic Oxidative and Mitochondrial Function in Parkinson's Disease and Idiopathic REM Sleep Behavior Disorder.

    Science.gov (United States)

    Morén, C; González-Casacuberta, Í; Navarro-Otano, J; Juárez-Flores, D; Vilas, D; Garrabou, G; Milisenda, J C; Pont-Sunyer, C; Catalán-García, M; Guitart-Mampel, M; Tobías, E; Cardellach, F; Valldeoriola, F; Iranzo, A; Tolosa, E

    2017-01-01

    To determine potential mitochondrial and oxidative alterations in colon biopsies from idiopathic REM sleep behavior disorder (iRBD) and Parkinson's disease (PD) subjects. Colonic biopsies from 7 iRBD subjects, 9 subjects with clinically diagnosed PD, and 9 healthy controls were homogenized in 5% w/v mannitol. Citrate synthase (CS) and complex I (CI) were analyzed spectrophotometrically. Oxidative damage was assessed either by lipid peroxidation, through malondialdehyde and hydroxyalkenal content by spectrophotometry, or through antioxidant enzyme levels of superoxide dismutase-2 (SOD2), glutathione peroxidase-1 (Gpx1), and catalase (CAT) by western blot. The presence of mitochondrial DNA (mtDNA) deletions was assessed by long PCR and electrophoresis. Nonsignificant trends to CI decrease in both iRBD (45.69 ± 18.15; 23% decrease) and PD patients (37.57 ± 12.41; 37% decrease) were found compared to controls (59.51 ± 12.52, p : NS). Lipid peroxidation was maintained among groups (iRBD: 27.46 ± 3.04, PD: 37.2 ± 3.92, and controls: 31.71 ± 3.94; p : NS). Antioxidant enzymes SOD2 (iRBD: 2.30 ± 0.92, PD: 1.48 ± 0.39, and controls: 1.09 ± 0.318) and Gpx1 (iRBD 0.29 ± 0.12, PD: 0.56 ± 0.33, and controls: 0.38 ± 0.16) did not show significant differences between groups. CAT was only detected in 2 controls and 1 iRBD subject. One iRBD patient presented a single mtDNA deletion.

  8. Non-HLA gene polymorphisms in juvenile idiopathic arthritis: associations with disease outcome.

    Science.gov (United States)

    Alberdi-Saugstrup, M; Enevold, C; Zak, M; Nielsen, S; Nordal, E; Berntson, L; Fasth, A; Rygg, M; Müller, K

    2017-09-01

    To test the hypothesis that non-HLA single-nucleotide polymorphisms (SNPs) associated with the risk of juvenile idiopathic arthritis (JIA) are risk factors for an unfavourable disease outcome at long-term follow-up. The Nordic JIA cohort is a prospective multicentre study cohort of patients from the Nordic countries. In all, 193 patients met the inclusion criteria of having an 8 year follow-up assessment and available DNA sample. Seventeen SNPs met the inclusion criteria of having significant associations with JIA in at least two previous independent study cohorts. Clinical endpoints were disease remission, actively inflamed joints and joints with limitation of motion (LOM), articular or extra-articular damage, and history of uveitis. Evidence of associations between genotypes and endpoints were found for STAT4, ADAD1-IL2-IL21, PTPN2, and VTCN1 (p = 0.003-0.05). STAT4_rs7574865 TT was associated with the presence of actively inflamed joints [odds ratio (OR) 20.6, 95% confidence interval (CI) 2.2-> 100, p = 0.003] and extra-articular damage (OR 7.9, 95% CI 1-56.6, p = 0.057). ADAD1_rs17388568 AA was associated with a lower risk of having joints with LOM (OR 0.1, 95% CI 0-0.55, p = 0.016). PTPN2_rs1893217 CC was associated with a lower risk of having joints with LOM (OR 0.2, 95% CI 0-0.99, p = 0.026), while VTCN1_rs2358820 GA was associated with uveitis (OR 3.5, 95% CI 1-12.1, p = 0.029). This exploratory study, using a prospectively followed JIA cohort, found significant associations between long-term outcome and SNPs, all previously associated with development of JIA and involved in immune regulation and signal transduction in immune cells.

  9. Lung microbiome and disease progression in idiopathic pulmonary fibrosis: an analysis of the COMET study.

    Science.gov (United States)

    Han, MeiLan K; Zhou, Yueren; Murray, Susan; Tayob, Nabihah; Noth, Imre; Lama, Vibha N; Moore, Bethany B; White, Eric S; Flaherty, Kevin R; Huffnagle, Gary B; Martinez, Fernando J

    2014-07-01

    The role of the lung microbiome in the pathogenesis of idiopathic pulmonary fibrosis is unknown. We investigated whether unique microbial signatures were associated with progression of idiopathic pulmonary fibrosis. Patients (aged 35-80 years) with idiopathic pulmonary fibrosis within 4 years of diagnosis from the Correlating Outcomes with biochemical Markers to Estimate Time-progression (COMET) in idiopathic pulmonary fibrosis study were followed up for a maximum of 80 weeks. Progression-free survival was defined as time to death, acute exacerbation, lung transplant, or decrease in forced vital capacity (FVC) of 10% or greater or decrease in diffusion capacity of the lung (DLCO) of 15% or greater. DNA was isolated from 55 samples of bronchoscopic alveolar lavage. 454 pyrosequencing was used to assign operational taxonomic units (OTUs) to bacteria based on a 3% sequence divergence. Adjusted Cox models were used to identify OTUs that were significantly associated with progression-free survival at a pidiopathic pulmonary fibrosis is associated with the presence of specific members within the Staphylococcus and Streptococcus genera. Additional research will be needed to identify the specific bacterial species and to ascertain whether this is a causal association. National Institutes of Health. Copyright © 2014 Elsevier Ltd. All rights reserved.

  10. Decreased sleep spindle density in patients with idiopathic REM sleep behavior disorder and patients with Parkinson’s disease

    DEFF Research Database (Denmark)

    Christensen, Julie Anja Engelhard; Kempfner, Jacob; Zoetmulder, Marielle

    2014-01-01

    ObjectiveTo determine whether sleep spindles (SS) are potentially a biomarker for Parkinson’s disease (PD). MethodsFifteen PD patients with REM sleep behavior disorder (PD+RBD), 15 PD patients without RBD (PD−RBD), 15 idiopathic RBD (iRBD) patients and 15 age-matched controls underwent...... polysomnography (PSG). SS were scored in an extract of data from control subjects. An automatic SS detector using a Matching Pursuit (MP) algorithm and a Support Vector Machine (SVM) was developed and applied to the PSG recordings. The SS densities in N1, N2, N3, all NREM combined and REM sleep were obtained...

  11. Pain intensity in patients with juvenile idiopathic arthritis with respect to the level of their activity and disease acceptance

    Directory of Open Access Journals (Sweden)

    Grażyna Cepuch

    2014-11-01

    Full Text Available Objectives: Being diagnosed with a chronic disease, such as juvenile idiopathic arthritis (JIA, may adversely affect the activity of a young person. Additionally, the pain associated with the disease may cause difficulty accepting it. The aim was to assess the intensity of pain as well as the degree of activity and acceptance of the disease in young people aged 14–18 years with JIA. Material and methods : The study group consisted of youth of both genders suffering from JIA aged 14–18 years during remission of the disease. The study included 50 people and used the following: numerical rating scale (NRS 0–10, Cantril ladder, activity scale of own authorship (grouped items of the questionnaire form subscales of: tiredness, physical activity, social and intellectual activity and Acceptance of Illness Scale (AIS. Statistical analysis included the following tests: Mann-Whitney U test, Wilcoxon’s, χ2 test, Fisher’s, and Spearman rank correlation. The statistical significance level was set as p value below 0.05. Results : The majority of the respondents observed currently do not feel pain or feel pain of low intensity. The young people are physically, psychologically and socially active. The majority of patients accept their illness. The patients who suffer from pain on the NRS scale within 4–7 points do not adapt to living with the disease as do patients without pain or experiencing pain of low intensity. There was a strong correlation between acceptance of the disease at the time of the study determined by the Cantril ladder and AIS. Conclusions : 1. The pain suffered by patients with juvenile idiopathic arthritis (JIA has undoubtedly a negative impact on their activity and acceptance of the disease. 2. It seems to be crucial to recognize pain as a significant determinant of acceptance of the disease.

  12. Immediate effects of thermal-tactile stimulation on timing of swallow in idiopathic Parkinson's disease.

    Science.gov (United States)

    Regan, Julie; Walshe, Margaret; Tobin, W Oliver

    2010-09-01

    Oropharyngeal dysphagia frequently presents in people with idiopathic Parkinson's disease (IPD). Clinical sequelae of dysphagia in this group include weight loss and aspiration pneumonia, the latter of which is the leading cause of hospital admissions and death in IPD. Thermal-tactile stimulation (TTS) is a sensory technique whereby stimulation is provided to the anterior faucial pillars to speed up the pharyngeal swallow. The effects of TTS on swallowing have not yet been investigated in IPD. The aim of this study was to investigate the immediate effects of TTS on the timing of swallow in a cohort of people with IPD and known oropharyngeal dysphagia. Thirteen participants with IPD and known dysphagia attended for videofluoroscopy during which standardised volumes of liquid barium and barium paste were administered preceding and immediately subsequent to TTS. The immediate effects of TTS on swallowing were examined using oral, pharyngeal, and total transit times and pharyngeal delay times as outcome measures. TTS significantly reduced median pharyngeal transit time on fluids (0.20 s, 95% CI = 0.12-0.28, p = 0.004) and on paste (0.3 s, 95% CI = 0.08-0.66, p = 0.01). Median total transit time was also reduced on fluids (0.48 s, 95% CI = 0.00-1.17, p = 0.049) and on paste (0.52 s, 95% CI = 0.08-1.46, p = 0.033). Median pharyngeal delay time was reduced on fluids (0.20 s, 95% CI = 0.12-0.34, p = 0.002). TTS did not significantly alter median oral transit time on either fluid or paste consistency. TTS significantly reduced temporal measures of the pharyngeal phase of swallowing in the IPD population. Significant results may be attributed to the role of sensory stimulation in improving motor function in IPD, with emphasis on the impaired glossopharyngeal and vagus nerves in this population. It is still unclear whether these findings will translate into a clinically beneficial effect.

  13. Immediate effects of thermal-tactile stimulation on timing of swallow in idiopathic Parkinson's disease.

    LENUS (Irish Health Repository)

    Regan, Julie

    2012-02-01

    Oropharyngeal dysphagia frequently presents in people with idiopathic Parkinson\\'s disease (IPD). Clinical sequelae of dysphagia in this group include weight loss and aspiration pneumonia, the latter of which is the leading cause of hospital admissions and death in IPD. Thermal-tactile stimulation (TTS) is a sensory technique whereby stimulation is provided to the anterior faucial pillars to speed up the pharyngeal swallow. The effects of TTS on swallowing have not yet been investigated in IPD. The aim of this study was to investigate the immediate effects of TTS on the timing of swallow in a cohort of people with IPD and known oropharyngeal dysphagia. Thirteen participants with IPD and known dysphagia attended for videofluoroscopy during which standardised volumes of liquid barium and barium paste were administered preceding and immediately subsequent to TTS. The immediate effects of TTS on swallowing were examined using oral, pharyngeal, and total transit times and pharyngeal delay times as outcome measures. TTS significantly reduced median pharyngeal transit time on fluids (0.20 s, 95% CI = 0.12-0.28, p = 0.004) and on paste (0.3 s, 95% CI = 0.08-0.66, p = 0.01). Median total transit time was also reduced on fluids (0.48 s, 95% CI = 0.00-1.17, p = 0.049) and on paste (0.52 s, 95% CI = 0.08-1.46, p = 0.033). Median pharyngeal delay time was reduced on fluids (0.20 s, 95% CI = 0.12-0.34, p = 0.002). TTS did not significantly alter median oral transit time on either fluid or paste consistency. TTS significantly reduced temporal measures of the pharyngeal phase of swallowing in the IPD population. Significant results may be attributed to the role of sensory stimulation in improving motor function in IPD, with emphasis on the impaired glossopharyngeal and vagus nerves in this population. It is still unclear whether these findings will translate into a clinically beneficial effect.

  14. Adolescent Idiopathic Scoliosis

    Directory of Open Access Journals (Sweden)

    Safak Ekinci

    2014-06-01

    Full Text Available Scoliosis is called idiopathic when no other underlying disease can be identified. The etiology of adolescent idiopathic scoliosis (AIS is still unknown despite many years of research effort. Theories on AIS's etiology have included mechanical, hormonal, metabolic, neuromuscular, growth, and genetic abnormalities. Skeletally immature patients with adolescent idiopathic scoliosis are at risk of curve progression. The adolescent onset of severe idiopathic scoliosis has traditionally been evaluated using standing posteroanterior radiographs of the full spine to assess lateral curvature with the Cobb method. Scoliosis in children of school age and above primarily occurs in girls. The therapeutic goal in children is to prevent progression. In children, scoliosis of 20 and deg; or more should be treated with a brace, and scoliosis of 45 and deg; or more with surgery. [Arch Clin Exp Surg 2014; 3(3.000: 174-182

  15. 16S rRNA gene pyrosequencing reveals bacterial dysbiosis in the duodenum of dogs with idiopathic inflammatory bowel disease.

    Science.gov (United States)

    Suchodolski, Jan S; Dowd, Scot E; Wilke, Vicky; Steiner, Jörg M; Jergens, Albert E

    2012-01-01

    Canine idiopathic inflammatory bowel disease (IBD) is believed to be caused by a complex interaction of genetic, immunologic, and microbial factors. While mucosa-associated bacteria have been implicated in the pathogenesis of canine IBD, detailed studies investigating the enteric microbiota using deep sequencing techniques are lacking. The objective of this study was to evaluate mucosa-adherent microbiota in the duodenum of dogs with spontaneous idiopathic IBD using 16 S rRNA gene pyrosequencing. Biopsy samples of small intestinal mucosa were collected endoscopically from healthy dogs (n = 6) and dogs with moderate IBD (n = 7) or severe IBD (n = 7) as assessed by a clinical disease activity index. Total RNA was extracted from biopsy specimens and 454-pyrosequencing of the 16 S rRNA gene was performed on aliquots of cDNA from each dog. Intestinal inflammation was associated with significant differences in the composition of the intestinal microbiota when compared to healthy dogs. PCoA plots based on the unweighted UniFrac distance metric indicated clustering of samples between healthy dogs and dogs with IBD (ANOSIM, pmicrobial groups, which bear resemblance to dysbiosis reported in humans with chronic intestinal inflammation. These bacterial groups may serve as useful targets for monitoring intestinal inflammation.

  16. Idiopathic anaphylaxis.

    Science.gov (United States)

    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.

  17. Rare presentation of a common disease: Idiopathic hypoparathyroidism presenting with extrapyramidal symptoms and status epilepticus

    Directory of Open Access Journals (Sweden)

    Kaushik Ghosh

    2012-01-01

    Full Text Available We report of an 18-year-old male who presented with an epileptiform disorder, features of hypocalcemia, and an extrapyramidal symptom in the form of choreoathetosis. On evaluation he had idiopathic hypoparathyroidism with extensive calcifications in the extrapyramidal system of the brain; basal ganglion, as well as in the cerebral cortex and cerebellum, which is a rare entity. We report the rare presentation of a common disorder, which requires to be considered in evaluating hypoparathyroidism.

  18. Anakinra as first-line disease-modifying therapy in systemic juvenile idiopathic arthritis: report of forty-six patients from an international multicenter series

    NARCIS (Netherlands)

    Nigrovic, Peter A.; Mannion, Melissa; Prince, Femke H. M.; Zeft, Andrew; Rabinovich, C. Egla; van Rossum, Marion A. J.; Cortis, Elisabetta; Pardeo, Manuela; Miettunen, Paivi M.; Janow, Ginger; Birmingham, James; Eggebeen, Aaron; Janssen, Erin; Shulman, Andrew I.; Son, Mary Beth; Hong, Sandy; Jones, Karla; Ilowite, Norman T.; Cron, Randy Q.; Higgins, Gloria C.

    2011-01-01

    To examine the safety and efficacy of the interleukin-1 (IL-1) receptor antagonist anakinra as first-line therapy for systemic juvenile idiopathic arthritis (JIA). Patients with systemic JIA receiving anakinra as part of initial disease-modifying antirheumatic drug (DMARD) therapy were identified

  19. Transcranial direct current stimulation (tDCS) for idiopathic Parkinson's disease.

    Science.gov (United States)

    Elsner, Bernhard; Kugler, Joachim; Pohl, Marcus; Mehrholz, Jan

    2016-07-18

    Idiopathic Parkinson's disease (IPD) is a neurodegenerative disorder, with the severity of the disability usually increasing with disease duration. IPD affects patients' health-related quality of life, disability, and impairment. Current rehabilitation approaches have limited effectiveness in improving outcomes in patients with IPD, but a possible adjunct to rehabilitation might be non-invasive brain stimulation by transcranial direct current stimulation (tDCS) to modulate cortical excitability, and hence to improve these outcomes in IPD. To assess the effectiveness of tDCS in improving motor and non-motor symptoms in people with IPD. We searched the following databases (until February 2016): the Cochrane Central Register of Controlled Trials (CENTRAL; the Cochrane Library ; 2016 , Issue 2), MEDLINE, EMBASE, CINAHL, AMED, Science Citation Index, the Physiotherapy Evidence Database (PEDro), Rehabdata, and Inspec. In an effort to identify further published, unpublished, and ongoing trials, we searched trial registers and reference lists, handsearched conference proceedings, and contacted authors and equipment manufacturers. We included only randomised controlled trials (RCTs) and randomised controlled cross-over trials that compared tDCS versus control in patients with IPD for improving health-related quality of life , disability, and impairment. Two review authors independently assessed trial quality (JM and MP) and extracted data (BE and JM). If necessary, we contacted study authors to ask for additional information. We collected information on dropouts and adverse events from the trial reports. We included six trials with a total of 137 participants. We found two studies with 45 participants examining the effects of tDCS compared to control (sham tDCS) on our primary outcome measure, impairment, as measured by the Unified Parkinson's Disease Rating Scale (UPDRS). There was very low quality evidence for no effect of tDCS on change in global UPDRS score ( mean

  20. Juvenile Idiopathic Arthritis

    Directory of Open Access Journals (Sweden)

    Kenan Barut

    2017-04-01

    Full Text Available Juvenile idiopathic arthritis is the most common chronic rheumatic disease of unknown aetiology in childhood and predominantly presents with peripheral arthritis. The disease is divided into several subgroups, according to demographic characteristics, clinical features, treatment modalities and disease prognosis. Systemic juvenile idiopathic arthritis, which is one of the most frequent disease subtypes, is characterized by recurrent fever and rash. Oligoarticular juvenile idiopathic arthritis, common among young female patients, is usually accompanied by anti-nuclear antibodie positivity and anterior uveitis. Seropositive polyarticular juvenile idiopathic arthritis, an analogue of adult rheumatoid arthritis, is seen in less than 10% of paediatric patients. Seronegative polyarticular juvenile idiopathic arthritis, an entity more specific for childhood, appears with widespread large- and small-joint involvement. Enthesitis-related arthritis is a separate disease subtype, characterized by enthesitis and asymmetric lower-extremity arthritis. This disease subtype represents the childhood form of adult spondyloarthropathies, with human leukocyte antigen-B27 positivity and uveitis but commonly without axial skeleton involvement. Juvenile psoriatic arthritis is characterized by a psoriatic rash, accompanied by arthritis, nail pitting and dactylitis. Disease complications can vary from growth retardation and osteoporosis secondary to treatment and disease activity, to life-threatening macrophage activation syndrome with multi-organ insufficiency. With the advent of new therapeutics over the past 15 years, there has been a marked improvement in juvenile idiopathic arthritis treatment and long-term outcome, without any sequelae. The treatment of juvenile idiopathic arthritis patients involves teamwork, including an experienced paediatric rheumatologist, an ophthalmologist, an orthopaedist, a paediatric psychiatrist and a physiotherapist. The primary goals

  1. Sleep stability and transitions in patients with idiopathic REM sleep behavior disorder and patients with Parkinson's disease

    DEFF Research Database (Denmark)

    Christensen, Julie Anja Engelhard; Jennum, Poul; Koch, Henriette

    2016-01-01

    Objective: Patients with idiopathic rapid eye movement (REM) sleep behavior disorder (iRBD) are at high risk of developing Parkinson's disease (PD). As wake/sleep-regulation is thought to involve neurons located in the brainstem and hypothalamic areas, we hypothesize that the neurodegeneration in i......RBD/PD is likely to affect wake/sleep and REM/non-REM (NREM) sleep transitions. Methods: We determined the frequency of wake/sleep and REM/NREM sleep transitions and the stability of wake (W), REM and NREM sleep as measured by polysomnography (PSG) in 27 patients with PD, 23 patients with iRBD, 25 patients...... with periodic leg movement disorder (PLMD) and 23 controls. Measures were computed based on manual scorings and data-driven labeled sleep staging. Results: Patients with PD showed significantly lower REM stability than controls and patients with PLMD. Patients with iRBD had significantly lower REM stability...

  2. 16S rRNA gene pyrosequencing reveals bacterial dysbiosis in the duodenum of dogs with idiopathic inflammatory bowel disease.

    Directory of Open Access Journals (Sweden)

    Jan S Suchodolski

    Full Text Available BACKGROUND: Canine idiopathic inflammatory bowel disease (IBD is believed to be caused by a complex interaction of genetic, immunologic, and microbial factors. While mucosa-associated bacteria have been implicated in the pathogenesis of canine IBD, detailed studies investigating the enteric microbiota using deep sequencing techniques are lacking. The objective of this study was to evaluate mucosa-adherent microbiota in the duodenum of dogs with spontaneous idiopathic IBD using 16 S rRNA gene pyrosequencing. METHODOLOGY/PRINCIPAL FINDINGS: Biopsy samples of small intestinal mucosa were collected endoscopically from healthy dogs (n = 6 and dogs with moderate IBD (n = 7 or severe IBD (n = 7 as assessed by a clinical disease activity index. Total RNA was extracted from biopsy specimens and 454-pyrosequencing of the 16 S rRNA gene was performed on aliquots of cDNA from each dog. Intestinal inflammation was associated with significant differences in the composition of the intestinal microbiota when compared to healthy dogs. PCoA plots based on the unweighted UniFrac distance metric indicated clustering of samples between healthy dogs and dogs with IBD (ANOSIM, p<0.001. Proportions of Fusobacteria (p = 0.010, Bacteroidaceae (p = 0.015, Prevotellaceae (p = 0.022, and Clostridiales (p = 0.019 were significantly more abundant in healthy dogs. In contrast, specific bacterial genera within Proteobacteria, including Diaphorobacter (p = 0.044 and Acinetobacter (p = 0.040, were either more abundant or more frequently identified in IBD dogs. CONCLUSIONS/SIGNIFICANCE: In conclusion, dogs with spontaneous IBD exhibit alterations in microbial groups, which bear resemblance to dysbiosis reported in humans with chronic intestinal inflammation. These bacterial groups may serve as useful targets for monitoring intestinal inflammation.

  3. Ghrelin levels in patients with juvenile idiopathic arthritis: relation to anti-tumor necrosis factor treatment and disease activity.

    Science.gov (United States)

    Karagiozoglou-Lampoudi, Thomais; Trachana, Maria; Agakidis, Charalampos; Pratsidou-Gertsi, Polyxeni; Taparkou, Anna; Lampoudi, Sotiria; Kanakoudi-Tsakalidou, Florentia

    2011-10-01

    Studies in adults with rheumatoid arthritis reported low serum ghrelin that increased following anti-tumor necrosis factor (TNF) infusion. Data on juvenile idiopathic arthritis (JIA) are lacking. The aim of this pilot study was to explore serum ghrelin levels in patients with JIA and the possible association with anti-TNF treatment, disease activity, and nutritional status. Fifty-two patients with JIA (14/52 on anti-TNF treatment) were studied. Juvenile idiopathic arthritis was inactive in 3 of 14 anti-TNF-treated patients and in 11 of 38 non-anti-TNF-treated patients. The nutritional status, energy intake/requirements, appetite, and fasting serum ghrelin levels were assessed. Ghrelin control values were obtained from 50 individuals with minor illness matched for age, sex, and body mass index. Ghrelin levels in patients with JIA were significantly lower than in controls (P ghrelin levels were comparable to control values only in 3 patients with anti-TNF-induced remission. Ghrelin in non-anti-TNF-treated patients in remission was low. Multiple regression analysis showed that disease activity (P = .002, CI = -84.16 to -20.01) and anti-TNF treatment (P = .003, CI = -82.51 to -18.33) were significant independent predictors of ghrelin after adjusting for other potential confounders. Ghrelin did not correlate with nutritional status, energy balance, and appetite. Serum ghrelin is low in patients with JIA and is restored to values similar to those in controls following anti-TNF-induced remission. Our study provides evidence that TNF blockade is independently associated with serum ghrelin, which possibly contributes to anti-TNF-induced remission. These preliminary results could form the basis for future research. Copyright © 2011 Elsevier Inc. All rights reserved.

  4. Quantitative proteomic characterization of the lung extracellular matrix in chronic obstructive pulmonary disease and idiopathic pulmonary fibrosis.

    Science.gov (United States)

    Åhrman, Emma; Hallgren, Oskar; Malmström, Lars; Hedström, Ulf; Malmström, Anders; Bjermer, Leif; Zhou, Xiao-Hong; Westergren-Thorsson, Gunilla; Malmström, Johan

    2018-03-01

    Remodeling of the extracellular matrix (ECM) is a common feature in lung diseases such as chronic obstructive pulmonary disease (COPD) and idiopathic pulmonary fibrosis (IPF). Here, we applied a sequential tissue extraction strategy to describe disease-specific remodeling of human lung tissue in disease, using end-stages of COPD and IPF. Our strategy was based on quantitative comparison of the disease proteomes, with specific focus on the matrisome, using data-independent acquisition and targeted data analysis (SWATH-MS). Our work provides an in-depth proteomic characterization of human lung tissue during impaired tissue remodeling. In addition, we show important quantitative and qualitative effects of the solubility of matrisome proteins. COPD was characterized by a disease-specific increase in ECM regulators, metalloproteinase inhibitor 3 (TIMP3) and matrix metalloproteinase 28 (MMP-28), whereas for IPF, impairment in cell adhesion proteins, such as collagen VI and laminins, was most prominent. For both diseases, we identified increased levels of proteins involved in the regulation of endopeptidase activity, with several proteins belonging to the serpin family. The established human lung quantitative proteome inventory and the construction of a tissue-specific protein assay library provides a resource for future quantitative proteomic analyses of human lung tissues. We present a sequential tissue extraction strategy to determine changes in extractability of matrisome proteins in end-stage COPD and IPF compared to healthy control tissue. Extensive quantitative analysis of the proteome changes of the disease states revealed altered solubility of matrisome proteins involved in ECM regulators and cell-ECM communication. The results highlight disease-specific remodeling mechanisms associated with COPD and IPF. Copyright © 2018 Elsevier B.V. All rights reserved.

  5. Depression and quality of life in monogenic compared to idiopathic, early-onset Parkinson's disease

    DEFF Research Database (Denmark)

    Kasten, Meike; Kertelge, Lena; Tadic, Vera

    2012-01-01

    , and 44% of manifesting carriers of mutations in PD genes, but was rare in the nonmanifesting carriers (7%) and healthy controls (5%). Subjects with Parkinson-associated depression reported fewer feelings of guilt or self-doubt than treated controls, but the occurrence of suicidal ideation was associated......Quality of life (QoL) is decreased in PD and is linked with depression and anxiety. However, little is known about QoL in monogenic PD. Subjects with mutations in PD genes were recruited from ongoing family and genetic studies (manifesting carriers, n = 23; nonmanifesting carriers, n = 19......). For comparison purposes, we included patients with idiopathic PD (IPD; n = 128; early onset, n = 38; late onset, n = 90), healthy controls (n = 127), and data on depressive symptoms of 144 patients with major depression (treated controls). Depression affected 31% of early-onset PD cases, 21% of late-onset cases...

  6. 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.

    Science.gov (United States)

    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.

  7. Synovial and inflammatory diseases in childhood: role of new imaging modalities in the assessment of patients with juvenile idiopathic arthritis

    International Nuclear Information System (INIS)

    Damasio, Maria Beatrice; Malattia, Clara; Martini, Alberto; Toma, Paolo

    2010-01-01

    Juvenile idiopathic arthritis (JIA) represents a group of heterogeneous diseases characterized by a chronic inflammatory process primarily targeting the synovial membrane. A persistent synovitis is associated with an increased risk of osteocartilaginous damage. With the advent of effective structure-modifying treatment for JIA, it may be possible to significantly reduce or even completely prevent structural damage and associated functional disability. The trend towards early suppression of inflammation, in order to prevent erosive disease, shifts the emphasis away from conventional radiographic detectable structural damage to the slightest traces of early joint damage, and drives the need for alternative imaging techniques more sensitive in detecting early signs of disease activity and damage. In this regard MRI and US are playing an increasing role in the evaluation of arthritic joints. This article will review the key aspects of the current status and recent important advances of imaging techniques available to investigate the child with rheumatic disease, briefly discussing conventional radiography, and particularly focusing on MRI and US. In this era of advancing imaging technology, knowledge of the relative values of available imaging techniques is necessary to optimize the management of children with JIA. (orig.)

  8. Distinct Roles of Wnt/β-Catenin Signaling in the Pathogenesis of Chronic Obstructive Pulmonary Disease and Idiopathic Pulmonary Fibrosis

    Science.gov (United States)

    Shi, Juan; Li, Feng; Luo, Meihui; Wei, Jun

    2017-01-01

    Wnt signaling pathways are tightly controlled under a physiological condition, under which they play key roles in many biological functions, including cell fate specification and tissue regeneration. Increasing lines of evidence recently demonstrated that a dysregulated activation of Wnt signaling, particularly the Wnt/β-catenin signaling, was involved in the pathogenesis of chronic pulmonary diseases, such as chronic obstructive pulmonary disease (COPD) and idiopathic pulmonary fibrosis (IPF). In this respect, Wnt signaling interacts with other cellular signaling pathways to regulate the initiation and pathogenic procedures of airway inflammation and remodeling, pulmonary myofibroblast proliferation, epithelial-to-mesenchymal transition (EMT), and development of emphysema. Intriguingly, Wnt/β-catenin signaling is activated in IPF; an inhibition of this signaling leads to an alleviation of pulmonary inflammation and fibrosis in experimental models. Conversely, Wnt/β-catenin signaling is inactivated in COPD tissues, and its reactivation results in an amelioration of airspace enlargement with a restored alveolar epithelial structure and function in emphysema models. These studies thus imply distinct mechanisms of Wnt/β-catenin signaling in the pathogenesis of these two chronic pulmonary diseases, indicating potential targets for COPD and IPF treatments. This review article aims to summarize the involvement and pathogenic roles of Wnt signaling pathways in the COPD and IPF, with a focus on the implication of Wnt/β-catenin signaling as underlying mechanisms and therapeutic targets in these two incurable diseases. PMID:28588349

  9. Temporomandibular Joint Involvement in Association With Quality of Life, Disability, and High Disease Activity in Juvenile Idiopathic Arthritis.

    Science.gov (United States)

    Frid, Paula; Nordal, Ellen; Bovis, Francesca; Giancane, Gabriella; Larheim, Tore A; Rygg, Marite; Pires Marafon, Denise; De Angelis, Donato; Palmisani, Elena; Murray, Kevin J; Oliveira, Sheila; Simonini, Gabriele; Corona, Fabrizia; Davidson, Joyce; Foster, Helen; Steenks, Michel H; Flato, Berit; Zulian, Francesco; Baildam, Eileen; Saurenmann, Rotraud K; Lahdenne, Pekka; Ravelli, Angelo; Martini, Alberto; Pistorio, Angela; Ruperto, Nicolino

    2017-05-01

    To evaluate the demographic, disease activity, disability, and health-related quality of life (HRQOL) differences between children with juvenile idiopathic arthritis (JIA) and their healthy peers, and between children with JIA with and without clinical temporomandibular joint (TMJ) involvement and its determinants. This study is based on a cross-sectional cohort of 3,343 children with JIA and 3,409 healthy peers, enrolled in the Pediatric Rheumatology International Trials Organisation HRQOL study or in the methotrexate trial. Potential determinants of TMJ involvement included demographic, disease activity, disability, and HRQOL measures selected through univariate and multivariable logistic regression. Clinical TMJ involvement was observed in 387 of 3,343 children with JIA (11.6%). Children with TMJ involvement, compared to those without, more often had polyarticular disease course (95% versus 70%), higher Juvenile Arthritis Disease Activity Score (odds ratio [OR] 4.6), more disability, and lower HRQOL. Children with TMJ involvement experienced clearly more disability and lower HRQOL compared to their healthy peers. The multivariable analysis showed that cervical spine involvement (OR 4.6), disease duration >4.4 years (OR 2.8), and having more disability (Childhood Health Assessment Questionnaire Disability Index >0.625) (OR 1.6) were the most important determinants for TMJ involvement. Clinical TMJ involvement in JIA is associated with higher disease activity, higher disability, and impaired HRQOL. Our findings indicate the need for dedicated clinical and imaging evaluation of TMJ arthritis, especially in children with cervical spine involvement, polyarticular course, and longer disease duration. © 2016, American College of Rheumatology.

  10. Comparison of clinical and pathological features of lung lesions of systemic IgG4-related disease and idiopathic multicentric Castleman's disease.

    Science.gov (United States)

    Terasaki, Yasuhiro; Ikushima, Soichiro; Matsui, Shoko; Hebisawa, Akira; Ichimura, Yasunori; Izumi, Shinyu; Ujita, Masuo; Arita, Machiko; Tomii, Keisuke; Komase, Yuko; Owan, Isoko; Kawamura, Tetsuji; Matsuzawa, Yasuo; Murakami, Miho; Ishimoto, Hiroshi; Kimura, Hiroshi; Bando, Masashi; Nishimoto, Norihiro; Kawabata, Yoshinori; Fukuda, Yuh; Ogura, Takashi

    2017-06-01

    The lung lesion [immunoglobulin (Ig)G4-L] of IgG4-related disease (IgG4-RD) is a condition that occurs together with IgG4-RD and often mimics the lung lesion [idiopathic multicentric Castleman's disease (iMCD-L)] of idiopathic multicentric Castleman's disease (iMCD). Because no clinical and pathological studies had previously compared features of these diseases, we undertook this comparison with clinical and histological data. Nine patients had IgG4-L (high levels of serum IgG4 and of IgG4 + cells in lung specimens; typical extrapulmonary manifestations). Fifteen patients had iMCD-L (polyclonal hyperimmunoglobulinaemia, elevated serum interleukin-6 levels and polylymphadenopathy with typical lymphadenopathic lesions). Mean values for age, serum haemoglobin levels and IgG4/IgG ratios were higher in the IgG4-L group and C-reactive protein levels were higher in the iMCD-L group. All IgG4-RD lung lesions showed myxomatous granulation-like fibrosis (active fibrosis), with infiltration of lymphoplasmacytes and scattered eosinophils within the perilymphatic stromal area, such as interlobular septa and pleura with obstructive vasculitis. All 15 lung lesions of iMCD, however, had marked accumulation of polyclonal lymphoplasmacytes in lesions with lymphoid follicles and dense fibrosis, mainly in the alveolar area adjacent to interlobular septa and pleura without obstructive vasculitis. Although both lesions had lymphoplasmacytic infiltration, lung lesions of IgG4-RD were characterized by active fibrosis with eosinophilic infiltration within the perilymphatic stromal area with obstructive vasculitis, whereas lung lesions of iMCD had lymphoplasmacyte proliferating lesions mainly in the alveolar area adjacent to the perilymphatic stromal area. These clinicopathological features may help to differentiate the two diseases. © 2017 John Wiley & Sons Ltd.

  11. Quantitative MR characterization of disease activity in the knee in children with juvenile idiopathic arthritis: a longitudinal pilot study

    International Nuclear Information System (INIS)

    Workie, Dagnachew W.; Graham, T.B.; Laor, Tal; Racadio, Judy M.; Rajagopal, Akila; O'Brien, Kendall J.; Bommer, Wendy A.; Shire, Norah J.; Dardzinski, Bernard J.

    2007-01-01

    The development of a quantifiable and noninvasive method of monitoring disease activity and response to therapy is vital for arthritis management. The purpose of this study was to investigate the utility of quantitative dynamic contrast-enhanced MRI (DCE-MRI) based on pharmacokinetic (PK) modeling to evaluate disease activity in the knee and correlate the results with the clinical assessment in children with juvenile idiopathic arthritis (JIA). A group of 17 children with JIA underwent longitudinal clinical and laboratory assessment and DCE-MRI of the knee at enrollment, 3 months, and 12 months. A PK model was employed using MRI signal enhancement data to give three parameters, K trans ' (min -1 ), k ep (min -1 ), and V p ' and to calculate synovial volume. The PK parameters, synovial volumes, and clinical and laboratory assessments in most children were significantly decreased (P < 0.05) at 12 months when compared to the enrollment values. There was excellent correlation between the PK and synovial volume and the clinical and laboratory assessments. Differences in MR and clinical parameter values in individual subjects illustrate persistent synovitis when in clinical remission. A decrease in PK parameter values obtained from DCE-MRI in children with JIA likely reflects diminution of disease activity. This technique may be used as an objective follow-up measure of therapeutic efficacy in patients with JIA. MR imaging can detect persistent synovitis in patients considered to be in clinical remission. (orig.)

  12. Trace metals in fluids lining the respiratory system of patients with idiopathic pulmonary fibrosis and diffuse lung diseases.

    Science.gov (United States)

    Bargagli, Elena; Lavorini, Federico; Pistolesi, Massimo; Rosi, Elisabetta; Prasse, Antje; Rota, Emilia; Voltolini, Luca

    2017-07-01

    Idiopathic pulmonary fibrosis (IPF) is an interstitial lung disease with a poor prognosis and an undefined etiopathogenesis. Oxidative stress contributes to alveolar injury and fibrosis development and, because transition metals are essential to the functioning of most proteins involved in redox reactions, a better knowledge of metal concentrations and metabolism in the respiratory system of IPF patients may provide a valuable complementary approach to prevent and manage a disease which is often misdiagnosed or diagnosed in later stages. The present review summarizes and discusses literature data on the elemental composition of bronchoalveolar lavage (BAL), induced sputum and exhaled breath condensate (EBC) from patients affected by IPF and healthy subjects. Available data are scanty and the lack of consistent methods for the collection and analysis of lung and airways lining fluids makes it difficult to compare the results of different studies. However, the elemental composition of BAL samples from IPF patients seems to have a specific profile that can be distinguished from that of patients with other interstitial lung diseases (ILD) or control subjects. Suggestions are given towards standard sampling and analytical procedures of BAL samples, in the aim to assess typical element concentration patterns and their potential role as biomarkers of IPF. Copyright © 2017 Elsevier GmbH. All rights reserved.

  13. Contrast-enhanced MRI compared with the physical examination in the evaluation of disease activity in juvenile idiopathic arthritis

    International Nuclear Information System (INIS)

    Hemke, Robert; Maas, Mario; Veenendaal, Mira van; Kuijpers, Taco W.; Dolman, Koert M.; Rossum, Marion A.J. van; Berg, J.M. van den

    2014-01-01

    To assess the value of magnetic resonance imaging (MRI) in discriminating between active and inactive juvenile idiopathic arthritis (JIA) patients and to compare physical examination outcomes with MRI outcomes in the assessment of disease status in JIA patients. Consecutive JIA patients with knee involvement were prospectively studied using an open-bore MRI. Imaging findings from 146 JIA patients were analysed (59.6 % female; mean age, 12.9 years). Patients were classified as clinically active or inactive. MRI features were evaluated using the JAMRIS system, comprising validated scores for synovial hypertrophy, bone marrow oedema, cartilage lesions and bone erosions. Inter-reader reliability was good for all MRI features (intra-class correlation coefficient [ICC] = 0.87-0.94). No differences were found between the two groups regarding MRI scores of bone marrow oedema, cartilage lesions or bone erosions. Synovial hypertrophy scores differed significantly between groups (P = 0.016). Nonetheless, synovial hypertrophy was also present in 14 JIA patients (35.9 %) with clinically inactive disease. Of JIA patients considered clinically active, 48.6 % showed no signs of MRI-based synovitis. MRI can discriminate between clinically active and inactive JIA patients. However, physical examination is neither very sensitive nor specific in evaluating JIA disease activity compared with MRI. Subclinical synovitis was present in >35 % of presumed clinically inactive patients. (orig.)

  14. Juvenile idiopathic arthritis in adulthood: fulfilment of classification criteria for adult rheumatic diseases, long-term outcomes and predictors of inactive disease, functional status and damage.

    Science.gov (United States)

    Oliveira-Ramos, Filipa; Eusébio, Mónica; M Martins, Fernando; Mourão, Ana Filipa; Furtado, Carolina; Campanilho-Marques, Raquel; Cordeiro, Inês; Ferreira, Joana; Cerqueira, Marcos; Figueira, Ricardo; Brito, Iva; Canhão, Helena; Santos, Maria José; Melo-Gomes, José A; Fonseca, João Eurico

    2016-01-01

    To determine how adult juvenile idiopathic arthritis (JIA) patients fulfil classification criteria for adult rheumatic diseases, evaluate their outcomes and determine clinical predictors of inactive disease, functional status and damage. Patients with JIA registered on the Rheumatic Diseases Portuguese Register (Reuma.pt) older than 18 years and with more than 5 years of disease duration were included. Data regarding sociodemographic features, fulfilment of adult classification criteria, Health Assessment Questionnaire, Juvenile Arthritis Damage Index-articular (JADI-A) and Juvenile Arthritis Damage Index-extra-articular (JADI-E) damage index and disease activity were analysed. 426 patients were included. Most of patients with systemic JIA fulfilled criteria for Adult Still's disease. 95.6% of the patients with rheumatoid factor (RF)-positive polyarthritis and 57.1% of the patients with RF-negative polyarthritis matched criteria for rheumatoid arthritis (RA). 38.9% of the patients with extended oligoarthritis were classified as RA while 34.8% of the patients with persistent oligoarthritis were classified as spondyloarthritis. Patients with enthesitis-related arthritis fulfilled criteria for spondyloarthritis in 94.7%. Patients with psoriatic arthritis maintained this classification. Patients with inactive disease had lower disease duration, lower diagnosis delay and corticosteroids exposure. Longer disease duration was associated with higher HAQ, JADI-A and JADI-E. Higher JADI-A was also associated with biological treatment and retirement due to JIA disability and higher JADI-E with corticosteroids exposure. Younger age at disease onset was predictive of higher HAQ, JADI-A and JADI-E and decreased the chance of inactive disease. Most of the included patients fulfilled classification criteria for adult rheumatic diseases, maintain active disease and have functional impairment. Younger age at disease onset was predictive of higher disability and decreased the

  15. Alteration of fecal microbiota profiles in juvenile idiopathic arthritis. Associations with HLA-B27 allele and disease status.

    Directory of Open Access Journals (Sweden)

    Monica Di Paola

    2016-10-01

    Full Text Available Alteration of gut microbiota is involved in several chronic inflammatory and autoimmune diseases, including rheumatoid arthritis, and gut microbial pro-arthritogenic profiles have been hypothesized. Intestinal inflammation may be involved in spondyloarthropathies and in a subset of patients affected by Juvenile Idiopathic Arthritis (JIA, the most common chronic rheumatic disease of childhood. We compared the fecal microbiota composition of JIA patients with healthy subjects (HS, evaluating differences in microbial profiles between sub-categories of JIA, such as enthesitis-related arthritis (JIA-ERA, in which inflammation of entheses occurs, and polyarticular JIA, non-enthesitis related arthritis (JIA-nERA. Through taxon-level analysis, we discovered alteration of fecal microbiota components that could be involved in subclinical gut inflammation, and promotion of joint inflammation. We observed abundance in Ruminococcaceae in both JIA categories, reduction in Clostridiaceae and Peptostreptococcaceae in JIA-ERA, and increase in Veillonellaceae in JIA-nERA, respectively compared with HS. Among the more relevant genera, we found an increase in Clostridium cluster XIVb, involved in colitis and arthritis, in JIA-ERA patients compared with HS, and a trend of decrease in Faecalibacterium, known for anti-inflammatory properties, in JIA-nERA compared with JIA-ERA and HS. Differential abundant taxa identified JIA patients for the HLA-B27 allele, including Bilophila, Clostridium cluster XIVb, Oscillibacter and Parvimonas. Prediction analysis of metabolic functions showed that JIA-ERA metagenome was differentially enriched in bacterial functions related to cell motility and chemotaxis, suggesting selection of potential virulence traits. We also discovered differential microbial profiles and intra-group variability among active disease and remission, suggesting instability of microbial ecosystem in autoimmune diseases with respect to healthy status. Similarly

  16. Prediction of survival by texture-based automated quantitative assessment of regional disease patterns on CT in idiopathic pulmonary fibrosis

    International Nuclear Information System (INIS)

    Lee, Sang Min; Seo, Joon Beom; Oh, Sang Young; Lee, Sang Min; Kim, Namkug; Kim, Tae Hoon; Song, Jin Woo

    2018-01-01

    To retrospectively investigate whether the baseline extent and 1-year change in regional disease patterns on CT can predict survival of patients with idiopathic pulmonary fibrosis (IPF). A total of 144 IPF patients with CT scans at the time of diagnosis and 1 year later were included. The extents of five regional disease patterns were quantified using an in-house texture-based automated system. The fibrosis score was defined as the sum of the extent of honeycombing and reticular opacity. The Cox proportional hazard model was used to determine the independent predictors of survival. A total of 106 patients (73.6%) died during the follow-up period. Univariate analysis revealed that age, baseline forced vital capacity, total lung capacity, diffusing capacity of the lung for carbon monoxide, six-minute walk distance, desaturation , honeycombing, reticular opacity, fibrosis score, and interval changes in honeycombing and fibrosis score were significantly associated with survival. Multivariate analysis revealed that age, desaturation, fibrosis score and interval change in fibrosis score were significant independent predictors of survival (p = 0.003, <0.001, 0.001 and <0.001). The C-index for the developed model was 0.768. Texture-based, automated CT quantification of fibrosis can be used as an independent predictor of survival in IPF patients. (orig.)

  17. Sleep stability and transitions in patients with idiopathic REM sleep behavior disorder and patients with Parkinson's disease.

    Science.gov (United States)

    Christensen, Julie Anja Engelhard; Jennum, Poul; Koch, Henriette; Frandsen, Rune; Zoetmulder, Marielle; Arvastson, Lars; Christensen, Søren Rahn; Sorensen, Helge Bjarrup Dissing

    2016-01-01

    Patients with idiopathic rapid eye movement (REM) sleep behavior disorder (iRBD) are at high risk of developing Parkinson's disease (PD). As wake/sleep-regulation is thought to involve neurons located in the brainstem and hypothalamic areas, we hypothesize that the neurodegeneration in iRBD/PD is likely to affect wake/sleep and REM/non-REM (NREM) sleep transitions. We determined the frequency of wake/sleep and REM/NREM sleep transitions and the stability of wake (W), REM and NREM sleep as measured by polysomnography (PSG) in 27 patients with PD, 23 patients with iRBD, 25 patients with periodic leg movement disorder (PLMD) and 23 controls. Measures were computed based on manual scorings and data-driven labeled sleep staging. Patients with PD showed significantly lower REM stability than controls and patients with PLMD. Patients with iRBD had significantly lower REM stability compared with controls. Patients with PD and RBD showed significantly lower NREM stability and significantly more REM/NREM transitions than controls. We conclude that W, NREM and REM stability and transitions are progressively affected in iRBD and PD, probably reflecting the successive involvement of brain stem areas from early on in the disease. Sleep stability and transitions determined by a data-driven approach could support the evaluation of iRBD and PD patients. Copyright © 2015 International Federation of Clinical Neurophysiology. Published by Elsevier Ireland Ltd. All rights reserved.

  18. Prediction of survival by texture-based automated quantitative assessment of regional disease patterns on CT in idiopathic pulmonary fibrosis

    Energy Technology Data Exchange (ETDEWEB)

    Lee, Sang Min; Seo, Joon Beom; Oh, Sang Young; Lee, Sang Min; Kim, Namkug [University of Ulsan College of Medicine, Asan Medical Center, Department of Radiology and Research Institute of Radiology, Seoul (Korea, Republic of); Kim, Tae Hoon; Song, Jin Woo [University of Ulsan College of Medicine, Asan Medical Center, Department of Pulmonary and Critical Care Medicine, Seoul (Korea, Republic of)

    2018-03-15

    To retrospectively investigate whether the baseline extent and 1-year change in regional disease patterns on CT can predict survival of patients with idiopathic pulmonary fibrosis (IPF). A total of 144 IPF patients with CT scans at the time of diagnosis and 1 year later were included. The extents of five regional disease patterns were quantified using an in-house texture-based automated system. The fibrosis score was defined as the sum of the extent of honeycombing and reticular opacity. The Cox proportional hazard model was used to determine the independent predictors of survival. A total of 106 patients (73.6%) died during the follow-up period. Univariate analysis revealed that age, baseline forced vital capacity, total lung capacity, diffusing capacity of the lung for carbon monoxide, six-minute walk distance, desaturation{sub ,} honeycombing, reticular opacity, fibrosis score, and interval changes in honeycombing and fibrosis score were significantly associated with survival. Multivariate analysis revealed that age, desaturation, fibrosis score and interval change in fibrosis score were significant independent predictors of survival (p = 0.003, <0.001, 0.001 and <0.001). The C-index for the developed model was 0.768. Texture-based, automated CT quantification of fibrosis can be used as an independent predictor of survival in IPF patients. (orig.)

  19. Idiopathic pulmonary fibrosis and collagen vascular diseases - high resolution CT findings; Pneumopatias intersticiais difusas idiopaticas e associadas a colagenoses - aspectos da tomografia computadorizada de alta resolucao

    Energy Technology Data Exchange (ETDEWEB)

    Ferreira Neto, Armando Leao; Mogami, Roberto [Universidade do Estado, Rio de Janeiro, RJ (Brazil). Centro Biomedico. Inst. de Radiologia; Marchiori, Edson [Universidade Federal Fluminense, Niteroi, RJ (Brazil). Inst. Biomedico. Dept. de Radiologia; Capone, Domenico [Universidade Estadual, Rio de Janeiro, RJ (Brazil). Dept. de Penumologia

    1996-09-01

    The aspects of the thorax high-resolution computed tomography of 15 patients with idiopathic pulmonary fibrosis and 11 patients with collagen vascular diseases are described and characterized mainly by the presence of reticular lesions with little cysts predominantly in the periphery and lower lobes. They may be associated with ground-glass lesions that, as usual, means areas of alveolitis. (author) 31 refs., 5 figs.

  20. How common is clinically inactive disease in a prospective cohort of patients with juvenile idiopathic arthritis? The importance of definition.

    Science.gov (United States)

    Shoop-Worrall, Stephanie J W; Verstappen, Suzanne M M; Baildam, Eileen; Chieng, Alice; Davidson, Joyce; Foster, Helen; Ioannou, Yiannis; McErlane, Flora; Wedderburn, Lucy R; Thomson, Wendy; Hyrich, Kimme L

    2017-08-01

    Many criteria for clinically inactive disease (CID) and minimal disease activity (MDA) have been proposed for juvenile idiopathic arthritis (JIA). It is not known to what degree each of these criteria overlap within a single patient cohort. This study aimed to compare the frequency of MDA and CID across different criteria in a cohort of children with JIA at 1 year following presentation. The Childhood Arthritis Prospective Study recruits children at initial presentation to paediatric or adolescent rheumatology in seven UK centres. Children recruited between October 2001 and December 2013 were included. The proportions of children with CID and MDA at 1 year were calculated using four investigator-defined and eight published composite criteria. Missing data were accounted for using multiple imputation under different assumptions. In a cohort of 1415 children and adolescents, 67% patients had no active joints at 1 year. Between 48% and 61% achieved MDA and between 25% and 38% achieved CID using published criteria. Overlap between criteria varied. Of 922 patients in MDA by either the original composite criteria, Juvenile Arthritis Disease Activity Score (JADAS) or clinical JADAS cut-offs, 68% were classified as in MDA by all 3 criteria. Similarly, 44% of 633 children with CID defined by either Wallace's preliminary criteria or the JADAS cut-off were in CID according to both criteria. In a large JIA prospective inception cohort, a majority of patients have evidence of persistent disease activity after 1 year. Published criteria to capture MDA and CID do not always identify the same groups of patients. This has significant implications when defining and applying treat-to-target strategies. 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/.

  1. Heterogeneous gene expression signatures correspond to distinct lung pathologies and biomarkers of disease severity in idiopathic pulmonary fibrosis.

    Science.gov (United States)

    DePianto, Daryle J; Chandriani, Sanjay; Abbas, Alexander R; Jia, Guiquan; N'Diaye, Elsa N; Caplazi, Patrick; Kauder, Steven E; Biswas, Sabyasachi; Karnik, Satyajit K; Ha, Connie; Modrusan, Zora; Matthay, Michael A; Kukreja, Jasleen; Collard, Harold R; Egen, Jackson G; Wolters, Paul J; Arron, Joseph R

    2015-01-01

    There is microscopic spatial and temporal heterogeneity of pathological changes in idiopathic pulmonary fibrosis (IPF) lung tissue, which may relate to heterogeneity in pathophysiological mediators of disease and clinical progression. We assessed relationships between gene expression patterns, pathological features, and systemic biomarkers to identify biomarkers that reflect the aggregate disease burden in patients with IPF. Gene expression microarrays (N=40 IPF; 8 controls) and immunohistochemical analyses (N=22 IPF; 8 controls) of lung biopsies. Clinical characterisation and blood biomarker levels of MMP3 and CXCL13 in a separate cohort of patients with IPF (N=80). 2940 genes were significantly differentially expressed between IPF and control samples (|fold change| >1.5, p<0.05). Two clusters of co-regulated genes related to bronchiolar epithelium or lymphoid aggregates exhibited substantial heterogeneity within the IPF population. Gene expression in bronchiolar and lymphoid clusters corresponded to the extent of bronchiolisation and lymphoid aggregates determined by immunohistochemistry in adjacent tissue sections. Elevated serum levels of MMP3, encoded in the bronchiolar cluster, and CXCL13, encoded in the lymphoid cluster, corresponded to disease severity and shortened survival time (p<10(-7) for MMP3 and p<10(-5) for CXCL13; Cox proportional hazards model). Microscopic pathological heterogeneity in IPF lung tissue corresponds to specific gene expression patterns related to bronchiolisation and lymphoid aggregates. MMP3 and CXCL13 are systemic biomarkers that reflect the aggregate burden of these pathological features across total lung tissue. These biomarkers may have clinical utility as prognostic and/or surrogate biomarkers of disease activity in interventional studies in IPF. Published by the BMJ Publishing Group Limited. For permission to use (where not already granted under a licence) please go to http://group.bmj.com/group/rights-licensing/permissions.

  2. Dual-time-point {sup 18}F-FDG PET imaging for diagnosis of disease type and disease activity in patients with idiopathic interstitial pneumonia

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    Umeda, Yukihiro; Demura, Yoshiki; Ishizaki, Takeshi; Ameshima, Shingo [University of Fukui, Department of Respiratory Medicine, Yoshida-gun, Fukui (Japan); Miyamori, Isamu [University of Fukui, Third Department of Internal Medicine, Yoshida-gun, Fukui (Japan); Saito, Yuji [Fujita Health University, Division of Respirology and Allergology, Department of Internal Medicine, School of Medicine, Toyoake, Aichi (Japan); Tsuchida, Tatsuro [University of Fukui, Department of Radiology, Yoshida-gun, Fukui (Japan); Fujibayashi, Yasuhisa; Okazawa, Hidehiko [University of Fukui, Biomedical Imaging Research Center, Yoshida-gun, Fukui (Japan)

    2009-07-15

    Individual clinical courses of idiopathic interstitial pneumonia (IIP) are variable and difficult to predict because the pathology and disease activity are contingent, and chest computed tomography (CT) provides little information about disease activity. In this study, we applied dual-time-point [{sup 18}F]-fluoro-2-deoxy-D-glucose ({sup 18}F-FDG) positron emission tomography (PET), commonly used for diagnosis of malignant tumours, to the differential diagnosis and prediction of disease progression in IIP patients. Fifty patients with IIP, including idiopathic pulmonary fibrosis (IPF, n = 21), non-specific interstitial pneumonia (NSIP, n = 18) and cryptogenic organizing pneumonia (COP, n = 11), underwent {sup 18}F-FDG PET examinations at two time points: scan 1 at 60 min (early imaging) and scan 2 at 180 min (delayed imaging) after {sup 18}F-FDG injection. The standardized uptake values (SUV) at the two points and the retention index (RI-SUV) calculated from them were evaluated and compared with chest CT findings, disease progression and disease types. To evaluate short-term disease progression, all patients were examined by pulmonary function test every 3 months for 1 year after {sup 18}F-FDG PET scanning. The early SUV for COP (2.47 {+-} 0.74) was significantly higher than that for IPF (0.99 {+-} 0.29, p = 0.0002) or NSIP (1.22 {+-} 0.44, p= 0.0025). When an early SUV cut-off value of 1.5 and greater was used to distinguish COP from IPF and NSIP, the sensitivity, specificity and accuracy were 90.9, 94.3 and 93.5%, respectively. The RI-SUV for IPF and NSIP lesions was significantly greater in patients with deteriorated pulmonary function after 1 year of follow-up (progressive group, 13.0 {+-} 8.9%) than in cases without deterioration during the 1-year observation period (stable group, -16.8 {+-} 5.9%, p < 0.0001). However, the early SUV for all IIP types provided no additional information of disease progression. When an RI-SUV cut-off value of 0% and greater was

  3. Dual-time-point 18F-FDG PET imaging for diagnosis of disease type and disease activity in patients with idiopathic interstitial pneumonia

    International Nuclear Information System (INIS)

    Umeda, Yukihiro; Demura, Yoshiki; Ishizaki, Takeshi; Ameshima, Shingo; Miyamori, Isamu; Saito, Yuji; Tsuchida, Tatsuro; Fujibayashi, Yasuhisa; Okazawa, Hidehiko

    2009-01-01

    Individual clinical courses of idiopathic interstitial pneumonia (IIP) are variable and difficult to predict because the pathology and disease activity are contingent, and chest computed tomography (CT) provides little information about disease activity. In this study, we applied dual-time-point [ 18 F]-fluoro-2-deoxy-D-glucose ( 18 F-FDG) positron emission tomography (PET), commonly used for diagnosis of malignant tumours, to the differential diagnosis and prediction of disease progression in IIP patients. Fifty patients with IIP, including idiopathic pulmonary fibrosis (IPF, n = 21), non-specific interstitial pneumonia (NSIP, n = 18) and cryptogenic organizing pneumonia (COP, n = 11), underwent 18 F-FDG PET examinations at two time points: scan 1 at 60 min (early imaging) and scan 2 at 180 min (delayed imaging) after 18 F-FDG injection. The standardized uptake values (SUV) at the two points and the retention index (RI-SUV) calculated from them were evaluated and compared with chest CT findings, disease progression and disease types. To evaluate short-term disease progression, all patients were examined by pulmonary function test every 3 months for 1 year after 18 F-FDG PET scanning. The early SUV for COP (2.47 ± 0.74) was significantly higher than that for IPF (0.99 ± 0.29, p = 0.0002) or NSIP (1.22 ± 0.44, p= 0.0025). When an early SUV cut-off value of 1.5 and greater was used to distinguish COP from IPF and NSIP, the sensitivity, specificity and accuracy were 90.9, 94.3 and 93.5%, respectively. The RI-SUV for IPF and NSIP lesions was significantly greater in patients with deteriorated pulmonary function after 1 year of follow-up (progressive group, 13.0 ± 8.9%) than in cases without deterioration during the 1-year observation period (stable group, -16.8 ± 5.9%, p 18 F-FDG PET are useful parameters for the differential diagnosis and prediction of disease progression in patients with IIP. (orig.)

  4. Decreased sleep spindle density in patients with idiopathic REM sleep behavior disorder and patients with Parkinson's disease.

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    Christensen, Julie A E; Kempfner, Jacob; Zoetmulder, Marielle; Leonthin, Helle L; Arvastson, Lars; Christensen, Søren R; Sorensen, Helge B D; Jennum, Poul

    2014-03-01

    To determine whether sleep spindles (SS) are potentially a biomarker for Parkinson's disease (PD). Fifteen PD patients with REM sleep behavior disorder (PD+RBD), 15 PD patients without RBD (PD-RBD), 15 idiopathic RBD (iRBD) patients and 15 age-matched controls underwent polysomnography (PSG). SS were scored in an extract of data from control subjects. An automatic SS detector using a Matching Pursuit (MP) algorithm and a Support Vector Machine (SVM) was developed and applied to the PSG recordings. The SS densities in N1, N2, N3, all NREM combined and REM sleep were obtained and evaluated across the groups. The SS detector achieved a sensitivity of 84.7% and a specificity of 84.5%. At a significance level of α=1%, the iRBD and PD+RBD patients had a significantly lower SS density than the control group in N2, N3 and all NREM stages combined. At a significance level of α=5%, PD-RBD had a significantly lower SS density in N2 and all NREM stages combined. The lower SS density suggests involvement in pre-thalamic fibers involved in SS generation. SS density is a potential early PD biomarker. It is likely that an automatic SS detector could be a supportive diagnostic tool in the evaluation of iRBD and PD patients. Copyright © 2013 International Federation of Clinical Neurophysiology. Published by Elsevier Ireland Ltd. All rights reserved.

  5. Bleomycin Induces Molecular Changes Directly Relevant to Idiopathic Pulmonary Fibrosis: A Model for “Active” Disease

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    Tyagi, Gaurav; Phillips, Jonathan E.; Garrido, Rosario; Harris, Paul; Burns, Lisa; Renteria, Lorena; Woods, John; Chen, Leena; Allard, John; Ravindran, Palanikumar; Bitter, Hans; Liang, Zhenmin; Hogaboam, Cory M.; Kitson, Chris; Budd, David C.; Fine, Jay S.; Bauer, Carla MT.; Stevenson, Christopher S.

    2013-01-01

    The preclinical model of bleomycin-induced lung fibrosis, used to investigate mechanisms related to idiopathic pulmonary fibrosis (IPF), has incorrectly predicted efficacy for several candidate compounds suggesting that it may be of limited value. As an attempt to improve the predictive nature of this model, integrative bioinformatic approaches were used to compare molecular alterations in the lungs of bleomycin-treated mice and patients with IPF. Using gene set enrichment analysis we show for the first time that genes differentially expressed during the fibrotic phase of the single challenge bleomycin model were significantly enriched in the expression profiles of IPF patients. The genes that contributed most to the enrichment were largely involved in mitosis, growth factor, and matrix signaling. Interestingly, these same mitotic processes were increased in the expression profiles of fibroblasts isolated from rapidly progressing, but not slowly progressing, IPF patients relative to control subjects. The data also indicated that TGFβ was not the sole mediator responsible for the changes observed in this model since the ALK-5 inhibitor SB525334 effectively attenuated some but not all of the fibrosis associated with this model. Although some would suggest that repetitive bleomycin injuries may more effectively model IPF-like changes, our data do not support this conclusion. Together, these data highlight that a single bleomycin instillation effectively replicates several of the specific pathogenic molecular changes associated with IPF, and may be best used as a model for patients with active disease. PMID:23565148

  6. Serial perfusion in native lungs in patients with idiopathic pulmonary fibrosis and other interstitial lung diseases after single lung transplantation.

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    Sokai, Akihiko; Handa, Tomohiro; Chen, Fengshi; Tanizawa, Kiminobu; Aoyama, Akihiro; Kubo, Takeshi; Ikezoe, Kohei; Nakatsuka, Yoshinari; Oguma, Tsuyoshi; Hirai, Toyohiro; Nagai, Sonoko; Chin, Kazuo; Date, Hiroshi; Mishima, Michiaki

    2016-04-01

    Lung perfusions after single lung transplantation (SLT) have not been fully clarified in patients with interstitial lung disease (ILD). The present study aimed to investigate temporal changes in native lung perfusion and their associated clinical factors in patients with ILD who have undergone SLT. Eleven patients were enrolled. Perfusion scintigraphy was serially performed up to 12 months after SLT. Correlations between the post-operative perfusion ratio in the native lung and clinical parameters, including pre-operative perfusion ratio and computed tomography (CT) volumetric parameters, were evaluated. On average, the perfusion ratio of the native lung was maintained at approximately 30% until 12 months after SLT. However, the ratio declined more significantly in idiopathic pulmonary fibrosis (IPF) than in other ILDs (p = 0.014). The perfusion ratio before SLT was significantly correlated with that at three months after SLT (ρ = 0.64, p = 0.048). The temporal change of the perfusion ratio in the native lung did not correlate with those of the CT parameters. The pre-operative perfusion ratio may predict the post-operative perfusion ratio of the native lung shortly after SLT in ILD. Perfusion of the native lung may decline faster in IPF compared with other ILDs. © 2016 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

  7. Curcumin's Neuroprotective Efficacy in Drosophila Model of Idiopathic Parkinson's Disease Is Phase Specific: Implication of its Therapeutic Effectiveness

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    Phom, Limamanen; Achumi, Bovito; Alone, Debasmita P.; Muralidhara

    2014-01-01

    Abstract Selective degeneration of dopaminergic neurons in the substantia nigra underlies the basic motor impairments of Parkinson's disease (PD). Curcumin has been used for centuries in traditional medicines in India. Our aim is to understand the efficacy of genotropic drug curcumin as a neuroprotective agent in PD. Analysis of different developmental stages in model organisms revealed that they are characterized by different patterns of gene expression which is similar to that of developmental stages of human. Genotropic drugs would be effective only during those life cycle stages for which their target molecules are available. Hence there exists a possibility that targets of genotropic compounds such as curcumin may not be present in all life stages. However, no reports are available in PD models illustrating the efficacy of curcumin in later phases of adult life. This is important because this is the period during which late-onset disorders such as idiopathic PD set in. To understand this paradigm, we tested the protective efficacy of curcumin in different growth stages (early, late health stage, and transition phase) in adult Drosophila flies. Results showed that it can rescue the motor defects during early stages of life but is ineffective at later phases. This observation was substantiated with the finding that curcumin treatment could replenish depleted brain dopamine levels in the PD model only during early stages of life cycle, clearly suggesting its limitation as a therapeutic agent in late-onset neurodegenerative disorders such as PD. PMID:25238331

  8. Autoimmune thyroid disease as a risk factor for angioedema in patients with chronic idiopathic urticaria: a case-control study

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    Ruy Felippe Brito Gonçalves Missaka

    Full Text Available CONTEXT AND OBJECTIVE: An association between chronic idiopathic urticaria (CIU and autoimmune thyroid disease (ATD has been reported. However, there have not been any reports on whether ATD raises the risk of angioedema, which is a more severe clinical presentation of CIU. Thus, the aim of the present study was to evaluate whether the risk of angioedema is increased in patients with CIU and ATD. DESIGN AND SETTING: Case-control study including 115 patients with CIU at a tertiary public institution. METHODS: The patients were evaluated with regard to occurrence of angioedema and presence of ATD, hypothyroidism or hyperthyroidism. RESULTS: Angioedema was detected in 70 patients (60.9%. There were 22 cases (19.1% of ATD, 19 (16.5% of hypothyroidism and nine (7.8% of hyperthyroidism. The risk among patients with ATD was 16.2 times greater than among those without this thyroid abnormality (confidence interval, CI = 2.07-126.86. The odds ratio for hypothyroidism was 4.6 (CI = 1.00-21.54 and, for hyperthyroidism, 3.3 (CI = 0.38-28.36. CONCLUSIONS: Patients with CIU and ATD presented greater risk of angioedema, which reinforces the idea that a relationship exists between this allergic condition and thyroid autoimmunity. This finding could imply that such patients require specifically directed therapy.

  9. Assessment of disease activity of idiopathic pulmonary fibrosis (IPF) using FDG PET and high-resolution computed tomography (HRCT)

    International Nuclear Information System (INIS)

    Kim, Bom Sahn; Kang, Won Jun; Oh, So Won; Lee, Jeong Won; Kang, Ji Yeon; Lee, Dong Soo; Chung, June Key; Lee, Myung Chul

    2007-01-01

    Idiopathic pulmonary fibrosis (lPF) is induced by an uncontrolled accumulation and an activation of fibroblasts. The activity of IPF can be assessed according to the degrees of fibrosis and ground glass opacity (GGO) on HRCT. However, it has been thought that FDG PET reflects activity of inflammatory disease. The aim of this study was to compare the HRCT score and FDG uptake in patients with IPF. Six patients with IPF (M: F=4: 2, age 66.513.8 y) who underwent both FDG PET-CT and HRCT were enrolled (interval=33.042.6 d). The activity of IPF was scored at the level of the 1 cm above the diaphragm on HRCT, which was thought to be standard level of lower lobe. The degree of fibrosis was scored from 0 to 5 (0: no fibrosis, 1: interlobular septal wall thickening, 2: 75%). GGO was quantified from 0 to 5 (0: no GGO, 1: = 5 % of the lobe, 2: 5- 75%). Total score of HRCT was defined as the summed score of fibrosis and GGO. Standardized uptake value (SUV) was measured on same plane of FDG PET-CT by manual drawing of region of interest (ROI). SUV ratio of lung to liver was used as a metabolic marker of IPF activity. SUV ratio had a positive correlation with fibrosis score of HRCT (r=0.727, p=0.027), but did not have a significant correlation with GGO score (r=0.228, p=0.556). SUV ratio had a better correlation with total score of HRCT (r=0.895 and p<0.001). We demonstrated that SUV ratio might reflect disease activity of IPF. SUV ratio had a positive correlation with fibrosis score or total score on HRCT. FDG PET could be used to assess disease activity of IPF

  10. Assessment of disease activity of idiopathic pulmonary fibrosis (IPF) using FDG PET and high-resolution computed tomography (HRCT)

    Energy Technology Data Exchange (ETDEWEB)

    Kim, Bom Sahn; Kang, Won Jun; Oh, So Won; Lee, Jeong Won; Kang, Ji Yeon; Lee, Dong Soo; Chung, June Key; Lee, Myung Chul [Seoul National Univ. College of Medicine, Seoul (Korea, Republic of)

    2007-07-01

    Idiopathic pulmonary fibrosis (lPF) is induced by an uncontrolled accumulation and an activation of fibroblasts. The activity of IPF can be assessed according to the degrees of fibrosis and ground glass opacity (GGO) on HRCT. However, it has been thought that FDG PET reflects activity of inflammatory disease. The aim of this study was to compare the HRCT score and FDG uptake in patients with IPF. Six patients with IPF (M: F=4: 2, age 66.513.8 y) who underwent both FDG PET-CT and HRCT were enrolled (interval=33.042.6 d). The activity of IPF was scored at the level of the 1 cm above the diaphragm on HRCT, which was thought to be standard level of lower lobe. The degree of fibrosis was scored from 0 to 5 (0: no fibrosis, 1: interlobular septal wall thickening, 2: <25 % of the lobe, 3: 25-49 %, 4: 50-75 %, 5: >75%). GGO was quantified from 0 to 5 (0: no GGO, 1: = 5 % of the lobe, 2: 5-<25 %, 3: 25-49 %, 4: 50-75%, 5: >75%). Total score of HRCT was defined as the summed score of fibrosis and GGO. Standardized uptake value (SUV) was measured on same plane of FDG PET-CT by manual drawing of region of interest (ROI). SUV ratio of lung to liver was used as a metabolic marker of IPF activity. SUV ratio had a positive correlation with fibrosis score of HRCT (r=0.727, p=0.027), but did not have a significant correlation with GGO score (r=0.228, p=0.556). SUV ratio had a better correlation with total score of HRCT (r=0.895 and p<0.001). We demonstrated that SUV ratio might reflect disease activity of IPF. SUV ratio had a positive correlation with fibrosis score or total score on HRCT. FDG PET could be used to assess disease activity of IPF.

  11. Resting-state connectivity of the sustained attention network correlates with disease duration in idiopathic generalized epilepsy.

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    Mona Maneshi

    Full Text Available INTRODUCTION: In idiopathic generalized epilepsy (IGE, a normal electroencephalogram between generalized spike and wave (GSW discharges is believed to reflect normal brain function. However, some studies indicate that even excluding GSW-related errors, IGE patients perform poorly on sustained attention task, the deficit being worse as a function of disease duration. We hypothesized that at least in a subset of structures which are normally involved in sustained attention, resting-state functional connectivity (FC is different in IGE patients compared to controls and that some of the changes are related to disease duration. METHOD: Seeds were selected based on a sustained attention study in controls. Resting-state functional magnetic resonance imaging (fMRI data was obtained from 14 IGE patients and 14 matched controls. After physiological noise removal, the mean time-series of each seed was used as a regressor in a general linear model to detect regions that showed correlation with the seed. In patients, duration factor was defined based on epilepsy duration. Between-group differences weighted by the duration factor were evaluated with mixed-effects model. Correlation was then evaluated in IGE patients between the FC, averaged over each significant cluster, and the duration factor. RESULTS: Eight of 18 seeds showed significant difference in FC across groups. However, only for seeds in the medial superior frontal and precentral gyri and in the medial prefrontal area, average FC taken over significant clusters showed high correlation with the duration factor. These 3 seeds showed changes in FC respectively with the premotor and superior frontal gyrus, the dorsal premotor, and the supplementary motor area plus precentral gyrus. CONCLUSION: Alterations of FC in IGE patients are not limited to the frontal areas. However, as indicated by specificity analysis, patients with long history of disease show changes in FC mainly within the frontal areas.

  12. On the effect of hyperaldosteronism-inducing mutations in Na/K pumps.

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    Meyer, Dylan J; Gatto, Craig; Artigas, Pablo

    2017-11-06

    Primary aldosteronism, a condition in which too much aldosterone is produced and that leads to hypertension, is often initiated by an aldosterone-producing adenoma within the zona glomerulosa of the adrenal cortex. Somatic mutations of ATP1A1, encoding the Na/K pump α1 subunit, have been found in these adenomas. It has been proposed that a passive inward current transported by several of these mutant pumps is a "gain-of-function" activity that produces membrane depolarization and concomitant increases in aldosterone production. Here, we investigate whether the inward current through mutant Na/K pumps is large enough to induce depolarization of the cells that harbor them. We first investigate inward currents induced by these mutations in Xenopus Na/K pumps expressed in Xenopus oocytes and find that these inward currents are similar in amplitude to wild-type outward Na/K pump currents. Subsequently, we perform a detailed functional evaluation of the human Na/K pump mutants L104R, delF100-L104, V332G, and EETA963S expressed in Xenopus oocytes. By combining two-electrode voltage clamp with [ 3 H]ouabain binding, we measure the turnover rate of these inward currents and compare it to the turnover rate for outward current through wild-type pumps. We find that the turnover rate of the inward current through two of these mutants (EETA963S and L104R) is too small to induce significant cell depolarization. Electrophysiological characterization of another hyperaldosteronism-inducing mutation, G99R, reveals the absence of inward currents under many different conditions, including in the presence of the regulator FXYD1 as well as with mammalian ionic concentrations and body temperatures. Instead, we observe robust outward currents, but with significantly reduced affinities for intracellular Na + and extracellular K + Collectively, our results point to loss-of-function as the common mechanism for the hyperaldosteronism induced by these Na/K pump mutants. © 2017 Meyer et al.

  13. Elevated tissue transglutaminase antibodies in juvenile idiopathic arthritis children: Relation to neutrophil-to-lymphocyte ratio and disease activity

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    Rasha E. Gheith

    2017-10-01

    Full Text Available Background: Subclinical gut inflammation is described in juvenile idiopathic arthritis (JIA, so has joint involvement been related to celiac disease (CD. The well-known involvement of tissue transglutaminase (tTG in the pathogenesis of CD stimulated progress in the field of autoimmune diseases. Aim of the work: To screen JIA children for tTG antibodies and to detect its relation to the neutrophil-lymphocyte ratio (NLR and disease activity. Patients and methods: The study included 44 JIA children with 44 matched controls. All subjects had no GIT symptoms suggestive of CD. Disease activity was assessed using the juvenile arthritis disease activity score in 27 joints (JADAS-27. The tTG antibodies (IgA and IgG were assessed. Results: The patients mean age was 12.5 ± 2.8 years and disease duration 5.01 ± 2.9 years; Female:Male 3.4:1. The mean JADAS-27 score was 12.6 ± 2.04. tTG antibodies were positive in 43.2% of the patients compared to 18.2% control (p = 0.01. Antibodies positivity was comparable according to gender and subtypes. The NLR in JIA children (1.62 ± 0.58 was significantly higher than in control (1.3 ± 0.5 (p = 0.006. Those with positive tTG antibodies had a significantly reduced body mass index (p = 0.02 and increased NLR (p = 0.02 compared to those with negative tTG. Only NLR and JADAS-27 would significantly predict antibodies positivity (p = 0.037 and p = 0.04, respectively. Conclusion: Increased tTG antibodies are frequent in JIA children raising the possibility of an associated subclinical CD. Markedly reduced BMI and increased NLR could forecast the presence of these antibodies. In addition to the JADAS-27, the NLR is a simple test that could predict this association and could be a useful biomarker.

  14. Idiopathic ventricular tachycardia and fibrillation.

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    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.

  15. Impact of a disease-management program on symptom burden and health-related quality of life in patients with idiopathic pulmonary fibrosis and their care partners.

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    Lindell, Kathleen Oare; Olshansky, Ellen; Song, Mi-Kyung; Zullo, Thomas G; Gibson, Kevin F; Kaminski, Naftali; Hoffman, Leslie A

    2010-01-01

    Patients were recruited from the Dorothy P. and Richard P. Simmons Center for Interstitial Lung Disease, located within the University of Pittsburgh Medical Center. Idiopathic pulmonary fibrosis results in scarring of the lung and respiratory failure, and has a median survival of 3 to 5 years from the time of diagnosis. The purpose of this study was to determine whether patients with idiopathic pulmonary fibrosis and their care partners could be more optimally managed by a disease-management intervention entitled "Program to Reduce Idiopathic Pulmonary Fibrosis Symptoms and Improve Management," which nurses delivered using the format of a support group. We hypothesized that participation would improve perceptions of health-related quality of life (HRQoL) and decrease symptom burden. Subjects were 42 participants randomized to an experimental (10 patient/care partner dyads) or control (11 patient/care partner dyads) group. Experimental group participants attended the 6-week program, and controls received usual care. Before and after the program, all participants completed questionnaires designed to assess symptom burden and HRQoL. Patients and care partners in the intervention group were also interviewed in their home to elicit information on their experience after participating in the Program to Reduce Idiopathic Pulmonary Fibrosis Symptoms and Improve Management. After the intervention, experimental group patients rated their HRQoL less positively (P = .038) and tended to report more anxiety (P = .077) compared with controls. Care partners rated their stress at a lower level (P = .018) compared with controls. Course evaluations were uniformly positive. Post-study qualitative interviews with experimental group participants suggested benefits not exemplified by these scores. Patient participants felt less isolated, were able to put their disease into perspective, and valued participating in research and helping others. Further exploration of the impact of disease

  16. The Expression of DJ-1 (PARK7) in Normal Human CNS and Idiopathic Parkinson's Disease

    Science.gov (United States)

    Bandopadhyay, Rina; Kingsbury, Ann E.; Cookson, Mark R.; Reid, Andrew R.; Evans, Ian M.; Hope, Andrew D.; Pittman, Alan M.; Lashley, Tammaryn; Canet-Aviles, Rosa; Miller, David W.; McLendon, Chris; Strand, Catherine; Leonard, Andrew J.; Abou-Sleiman, Patrick M.; Healy, Daniel G.; Ariga, Hiroyashi; Wood, Nicholas W.; de Silva, Rohan; Revesz, Tamas; Hardy, John A.; Lees, Andrew J.

    2004-01-01

    Two mutations in the DJ-1 gene on chromosome1p36 have been identified recently to cause early-onset, autosomal recessive Parkinson's disease. As no information is available regarding the distribution of DJ-1 protein in the human brain, in this study we used a monoclonal antibody for DJ-1 to map its distribution in frontal cortex and substantia…

  17. Neurite orientation dispersion and density imaging in the substantia nigra in idiopathic Parkinson disease.

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    Kamagata, Koji; Hatano, Taku; Okuzumi, Ayami; Motoi, Yumiko; Abe, Osamu; Shimoji, Keigo; Kamiya, Kouhei; Suzuki, Michimasa; Hori, Masaaki; Kumamaru, Kanako K; Hattori, Nobutaka; Aoki, Shigeki

    2016-08-01

    We used neurite orientation dispersion and density imaging (NODDI) to quantify changes in the substantia nigra pars compacta (SNpc) and striatum in Parkinson disease (PD). Diffusion-weighted magnetic resonance images were acquired from 58 PD patients and 36 age- and sex-matched controls. The intracellular volume fraction (Vic), orientation dispersion index (OD), and isotropic volume fraction (Viso) of the basal ganglia were compared between groups. Multivariate logistic regression analysis determined which diffusion parameters were independent predictors of PD. Receiver operating characteristic (ROC) analysis compared the diagnostic accuracies of the evaluated indices. Pearson coefficient analysis correlated each diffusional parameter with disease severity. Vic in the contralateral SNpc and putamen were significantly lower in PD patients than in healthy controls (P disease severity. Multivariate logistic analysis revealed that Vic (P = 0.0000046) and mean diffusivity (P = 0.019) in the contralateral SNpc were the independent predictors of PD. In the ROC analysis, Vic in the contralateral SNpc showed the best diagnostic performance (mean cutoff, 0.62; sensitivity, 0.88; specificity, 0.83). NODDI is likely to be useful for diagnosing PD and assessing its progression. • Neurite orientation dispersion and density imaging (NODDI) is a new diffusion MRI technique • NODDI estimates neurite microstructure more specifically than diffusion tensor imaging • By using NODDI, nigrostriatal alterations in PD can be evaluated in vivo • NOODI is useful for diagnosing PD and assessing its disease progression.

  18. Basal ganglia dysfunction in idiopathic REM sleep behaviour disorder parallels that in early Parkinson’s disease

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    Rolinski, Michal; Griffanti, Ludovica; Piccini, Paola; Roussakis, Andreas A.; Szewczyk-Krolikowski, Konrad; Menke, Ricarda A.; Quinnell, Timothy; Zaiwalla, Zenobia; Klein, Johannes C.; Mackay, Clare E.

    2016-01-01

    Abstract See Postuma (doi:10.1093/aww131) for a scientific commentary on this article. Resting state functional magnetic resonance imaging dysfunction within the basal ganglia network is a feature of early Parkinson’s disease and may be a diagnostic biomarker of basal ganglia dysfunction. Currently, it is unclear whether these changes are present in so-called idiopathic rapid eye movement sleep behaviour disorder, a condition associated with a high rate of future conversion to Parkinson’s disease. In this study, we explore the utility of resting state functional magnetic resonance imaging to detect basal ganglia network dysfunction in rapid eye movement sleep behaviour disorder. We compare these data to a set of healthy control subjects, and to a set of patients with established early Parkinson’s disease. Furthermore, we explore the relationship between resting state functional magnetic resonance imaging basal ganglia network dysfunction and loss of dopaminergic neurons assessed with dopamine transporter single photon emission computerized tomography, and perform morphometric analyses to assess grey matter loss. Twenty-six patients with polysomnographically-established rapid eye movement sleep behaviour disorder, 48 patients with Parkinson’s disease and 23 healthy control subjects were included in this study. Resting state networks were isolated from task-free functional magnetic resonance imaging data using dual regression with a template derived from a separate cohort of 80 elderly healthy control participants. Resting state functional magnetic resonance imaging parameter estimates were extracted from the study subjects in the basal ganglia network. In addition, eight patients with rapid eye movement sleep behaviour disorder, 10 with Parkinson’s disease and 10 control subjects received 123I-ioflupane single photon emission computerized tomography. We tested for reduction of basal ganglia network connectivity, and for loss of tracer uptake in rapid eye

  19. A syndrome of severe idiopathic pulmonary parenchymal disease with pulmonary hypertension in Pekingese

    Directory of Open Access Journals (Sweden)

    Köster LS

    2016-02-01

    Full Text Available Liza S Köster,1 Robert M Kirberger2 1Section of Medicine, Department of Clinical Sciences, Integrative Mammalian Research (IMR Center, Ross University School of Veterinary Medicine (RUSVM, Basseterre, St Kitts, West Indies; 2Diagnostic Imaging Section, Department of Companion Animal Clinical Studies, Faculty of Veterinary Science, University of Pretoria, Onderstepoort, South Africa Abstract: This paper describes 35 Pekingese dogs with a syndrome characterized by dyspnea, cyanosis, episodic syncope, soft pulmonary “Velcro” crackles, pulmonary hypertension (PH, and computed tomography and radiographic changes consistent with pulmonary parenchymal disease. The medical data base was searched with the criteria “Pekingese” and “syncope” or “dyspnea” or “tachypnea” or “pulmonary hypertension”, over a 36-month period. Inclusion criteria were echocardiographic changes consistent with noninvasive diagnosis of PH, either subjectively by B-mode or objectively by Doppler. Dogs were excluded (n=106 if there were insufficient or poor-quality radiographic or echocardiographic records or if diseases other than chronic pulmonary disease were found to be the etiology. The records of 35 dogs met these criteria and presented with a respiratory crises preceded by a history of chronic exercise intolerance and episodic syncope. The average age was 14.5 years (range: 7–19 years, with 21 males and 14 females. Most of the dogs had an interstitial lung pattern with radiographic evidence of right heart enlargement. There was a 77% (n=27 mortality and a median survival of 60 days (interquartile range: 9–210 days. This study highlights a cor pulmonale syndrome from PH due to chronic pulmonary parenchymal disease, with a grave prognosis, in middle-aged to geriatric population of Hong Kong Pekingese. Keywords: computed tomography, interstitial lung disease, dog, syncope

  20. Anemia of chronic disease is the more frequent type of anemia seen in patients with chronic idiopathic neutropenia of adults.

    Science.gov (United States)

    Papadaki, H A; Eliopoulos, D G; Valatas, V; Eliopoulos, G D

    2001-04-01

    This study describes the frequency and the type of anemia seen in patients with nonimmune chronic idiopathic neutropenia of adults (NI-CINA). We found that NI-CINA patients had low hemoglobin levels and increased serum concentrations of erythropoietin (EPO), tumor necrosis factor-alpha (TNF-alpha), and interleukin-1beta (IL-1beta). The hemoglobin levels correlated positively with the number of circulating neutrophils and inversely with the levels of EPO and TNF-alpha but not of IL-1beta. Anemia, defined as the reduction of the hemoglobin below 12.0 g/dl for women and 13.3 g/dl for men, was found in 23 out of 148 patients studied, a proportion of 15.5%. Two of the anemic patients had iron deficiency anemia (8.7%), 11 had anemia of chronic disease (ACD; 47.8%) presenting with normal or slightly reduced erythrocytic indices, low serum iron, and increased serum ferritin, and the remaining ten had anemia of undefined pathogenesis (AUP; 43.5%) with normal or slightly decreased erythrocytic indices, serum iron ranging from 43 to 88 microg/dl, and ferritin values ranging from 12 to 50 ng/ml. We conclude that ACD is the more frequent type of anemia seen in patients with NI-CINA, and that pro-inflammatory cytokines, notably TNF-alpha, may be involved in the pathogenesis of both ACD and AUP, given that serum levels of the cytokine were significantly increased and that the EPO response to anemia was blunted in these patients. These findings further support our previously reported suggestion for the possible existence, in NI-CINA patients, of an unrecognized low-grade chronic inflammatory process that may be involved in the pathogenesis of the disorder.

  1. IgG4 and IgE co-positive group found in idiopathic orbital inflammatory disease

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    Peng-Xiang Zhao

    2018-01-01

    Full Text Available AIM: To reveal the cytokines involved in idiopathic orbital inflammatory disease (IOID and the relationship between Th17 cells, IgE and IOID pathogenesis. METHODS: Whole blood samples were processed immediately after collection and serological IgG4, IgG, and IgE antibodies were tested using ELISA. IOID and orbital cavernous hemangioma (CH tissue samples underwent Bio-Plex multiplex cytokine detection. Hematoxylin-Eosin (HE staining of all paraffin samples suggested the histological features of IOIDs, and expressions of IgG4 and IL-17A in affected tissues were detected by immunohistochemistry. RESULTS: Among 40 IOID plasma samples, 52.5% (21/40 were positive for IgG4 and 25% (10/40 were positive for IgE. Overlapped IgG4 or IgE positive samples accounted for 22.5% (9/40. Therefore, IOID samples were separated into three groups. The IgE+/IgG4+ group had a relevantly lower level of pro-inflammatory cytokine expression. IL-4 (Th2 cell related, IL-10 and TGF-β1 (Treg cell immunity related were elevated in all three groups. Some of the Th17 cell related cytokines (i.e. IL-17A/F, IL-25, IL-23, and IL-33 displayed higher expression levels in the IgE-/IgG4- group compared to the other two groups. CONCLUSION: We discovered an IgG4-IgE co-positive group as well as Th17 cell immune involvement in IgG4-IgE co-negative subgtroup in IOID for the first time. The pathogenesis of IOID could differ from different subgroups according to the IgG4 and IgE detection. Therefore, we recommend that, Treatment stratagy should be made according to the clinical assessment of IgG4-IgE and Th17 profile detection.

  2. American College of Rheumatology provisional criteria for defining clinical inactive disease in select categories of juvenile idiopathic arthritis.

    Science.gov (United States)

    Wallace, Carol A; Giannini, Edward H; Huang, Bin; Itert, Lukasz; Ruperto, Nicolino

    2011-07-01

    To prospectively validate the preliminary criteria for clinical inactive disease (CID) in patients with select categories of juvenile idiopathic arthritis (JIA). We used the process for development of classification and response criteria recommended by the American College of Rheumatology Quality of Care Committee. Patient-visit profiles were extracted from the phase III randomized controlled trial of infliximab in polyarticular-course JIA (i.e., patients considered to resemble those with select categories of JIA) and sent to an international group of expert physician raters. Using the physician ratings as the gold standard, the sensitivity and specificity were calculated using the preliminary criteria. Modifications to the criteria were made, and these were sent to a larger group of pediatric rheumatologists to determine quantitative, face, and content validity. Variables weighted heaviest by physicians when making their judgment were the number of joints with active arthritis, erythrocyte sedimentation rate (ESR), physician's global assessment, and duration of morning stiffness. Three modifications were made: the definition of uveitis, the definition of abnormal ESR, and the addition of morning stiffness. These changes did not alter the accuracy of the preliminary set. The modified criteria, termed the "criteria for CID in select categories of JIA," have excellent feasibility and face, content, criterion, and discriminant validity to detect CID in select categories of JIA. The small changes made to the preliminary criteria set did not alter the area under the receiver operating characteristic curve (0.954) or accuracy (91%), but have increased face and content validity. Copyright © 2011 by the American College of Rheumatology.

  3. The prevalence of gastro-esophageal reflux disease and esophageal dysmotility in Chinese patients with idiopathic pulmonary fibrosis.

    Science.gov (United States)

    Gao, Feng; Hobson, Anthony Robert; Shang, Zhan Min; Pei, Yan Xiang; Gao, Yan; Wang, Jian Xin; Huang, Wan Nong

    2015-02-19

    The cause of idiopathic pulmonary fibrosis (IPF) remains unknown, yet gastro-esophageal reflux disease (GERD) is highly prevalent in this population. GERD prevalence was studied, and esophageal function tests (EFT) were assessed in Chinese IPF patients. We prospectively studied 69 IPF patients who undertook both stationary High Resolution esophageal Manometry/Impedance (HRiM) and 24-hour esophageal Multi-Channel Intraluminal Impedance with pH Recordings (MII/pH). Patients were divided into GERD+ and GERD- groups according to pH results. Controls were HRiM treated healthy volunteers, and patients without IPF received HRiM and MII/pH diagnosed with GERD. 69 IPF patients, 62 healthy volunteers, and 88 IPF negative GERD patients were selected. GERD prevalence in IPF was 43/69 (62.3%), and 58.1% of patients presented with at least one typical symptom. Symptoms had a sensitivity of 58.1%, a specificity of 61.6%, a positive predictive value of 71.4% and a negative predictive of 47.1%. Compared with healthy volunteers, IPF patients had significantly decreased lower esophageal sphincter pressure (LESP), upper esophageal sphincter pressure (UESP) and complete bolus transit rate (CBTR). By contrast, IPF patients had increased total bolus transit time and prevalence of weak peristalsis. MII/pH showed that one third of IPF patients had abnormal distal and proximal reflux, especially non-acid reflux. Compared with GERD patients without IPF, GERD patients with IPF had significantly decreased CBTR and UESP with increased bolus exposure time. GERD prevalence in IPF was high, but symptoms alone were an unreliable predictor of reflux. IPF patients had lower LESP and UESP, impaired esophageal peristalsis and bolus clearance function with more proximal reflux events.

  4. Blood dendritic cell frequency declines in idiopathic Parkinson's disease and is associated with motor symptom severity.

    Science.gov (United States)

    Ciaramella, Antonio; Salani, Francesca; Bizzoni, Federica; Pontieri, Francesco E; Stefani, Alessandro; Pierantozzi, Mariangela; Assogna, Francesca; Caltagirone, Carlo; Spalletta, Gianfranco; Bossù, Paola

    2013-01-01

    The role of inflammation in Parkinson's Disease (PD) is well appreciated, but its underlying mechanisms are still unclear. Our objective was to determine whether dendritic cells (DC), a unique type of migratory immune cells that regulate immunological response and inflammation have an impact on PD. In a case-control study including 80 PD patients and 80 age- and gender-matched healthy control subjects, the two main blood subsets of plasmacytoid and myeloid DC were defined by flow cytometry analysis. Clinical evaluation of subjects consisting of cognition and depression assessment was performed using the Mini Mental State Examination and the Beck Depression Inventory. The severity of motor symptoms was measured using the Unified Parkinson's Disease Rating Scale-Part III. Comparison between patient and control DC measures and their relationships with clinical assessments were evaluated.The following main results were obtained: 1) the level of circulating DC (mainly the myeloid subset) was significantly reduced in PD patients in comparison with healthy controls; 2) after controlling for depressive and cognitive characteristics, the frequency of myeloid DC was confirmed as one of the independent determinants of PD; 3) the number of both myeloid and plasmacytoid DC was negatively associated with motor symptom severity. Overall, the decline of blood DC, perhaps due to the recruitment of immune cells to the site of disease-specific lesions, can be considered a clue of the immune alteration that characterizes PD, suggesting innovative exploitations of DC monitoring as a clinically significant tool for PD treatment. Indeed, this study suggests that reduced peripheral blood DC are a pathologically-relevant factor of PD and also displays the urgency to better understand DC role in PD for unraveling the immune system contribution to disease progression and thus favoring the development of innovative therapies ideally based on immunomodulation.

  5. Blood dendritic cell frequency declines in idiopathic Parkinson's disease and is associated with motor symptom severity.

    Directory of Open Access Journals (Sweden)

    Antonio Ciaramella

    Full Text Available The role of inflammation in Parkinson's Disease (PD is well appreciated, but its underlying mechanisms are still unclear. Our objective was to determine whether dendritic cells (DC, a unique type of migratory immune cells that regulate immunological response and inflammation have an impact on PD. In a case-control study including 80 PD patients and 80 age- and gender-matched healthy control subjects, the two main blood subsets of plasmacytoid and myeloid DC were defined by flow cytometry analysis. Clinical evaluation of subjects consisting of cognition and depression assessment was performed using the Mini Mental State Examination and the Beck Depression Inventory. The severity of motor symptoms was measured using the Unified Parkinson's Disease Rating Scale-Part III. Comparison between patient and control DC measures and their relationships with clinical assessments were evaluated.The following main results were obtained: 1 the level of circulating DC (mainly the myeloid subset was significantly reduced in PD patients in comparison with healthy controls; 2 after controlling for depressive and cognitive characteristics, the frequency of myeloid DC was confirmed as one of the independent determinants of PD; 3 the number of both myeloid and plasmacytoid DC was negatively associated with motor symptom severity. Overall, the decline of blood DC, perhaps due to the recruitment of immune cells to the site of disease-specific lesions, can be considered a clue of the immune alteration that characterizes PD, suggesting innovative exploitations of DC monitoring as a clinically significant tool for PD treatment. Indeed, this study suggests that reduced peripheral blood DC are a pathologically-relevant factor of PD and also displays the urgency to better understand DC role in PD for unraveling the immune system contribution to disease progression and thus favoring the development of innovative therapies ideally based on immunomodulation.

  6. Neurite orientation dispersion and density imaging in the substantia nigra in idiopathic Parkinson disease

    International Nuclear Information System (INIS)

    Kamagata, Koji; Suzuki, Michimasa; Hori, Masaaki; Kumamaru, Kanako K.; Aoki, Shigeki; Hatano, Taku; Okuzumi, Ayami; Motoi, Yumiko; Hattori, Nobutaka; Abe, Osamu; Shimoji, Keigo; Kamiya, Kouhei

    2016-01-01

    We used neurite orientation dispersion and density imaging (NODDI) to quantify changes in the substantia nigra pars compacta (SNpc) and striatum in Parkinson disease (PD). Diffusion-weighted magnetic resonance images were acquired from 58 PD patients and 36 age- and sex-matched controls. The intracellular volume fraction (Vic), orientation dispersion index (OD), and isotropic volume fraction (Viso) of the basal ganglia were compared between groups. Multivariate logistic regression analysis determined which diffusion parameters were independent predictors of PD. Receiver operating characteristic (ROC) analysis compared the diagnostic accuracies of the evaluated indices. Pearson coefficient analysis correlated each diffusional parameter with disease severity. Vic in the contralateral SNpc and putamen were significantly lower in PD patients than in healthy controls (P < 0.00058). Vic and OD in the SNpc and putamen showed significant negative correlations (P < 0.05) with disease severity. Multivariate logistic analysis revealed that Vic (P = 0.0000046) and mean diffusivity (P = 0.019) in the contralateral SNpc were the independent predictors of PD. In the ROC analysis, Vic in the contralateral SNpc showed the best diagnostic performance (mean cutoff, 0.62; sensitivity, 0.88; specificity, 0.83). NODDI is likely to be useful for diagnosing PD and assessing its progression. (orig.)

  7. Neurosurgical interventions in the treatment of idiopathic Parkinson disease: neurostimulation and neural implantation.

    Science.gov (United States)

    Kupsch, A; Earl, C

    1999-01-01

    With the exception of thalamotomy for drug-refractory tremor, surgical therapy for Parkinson's disease has been almost abandoned as treatment for Parkinsonian symptoms between 1965 and 1985. Reasons for this development relate to inconsistent postoperative results, complications associated with stereotactic surgical techniques and, most importantly, the advent of levodopa, which is still considered to be the gold standard in pharmacotherapy for Parkinson's disease. However, both, the long-term experience with L-DOPA therapy on the one hand and the progress of advanced stereotactic techniques and fetal graft research on the other hand have lead to reconsideration of surgical therapy in Parkinson's disease for patients, who can not be treated satisfactorily with medication. Both lesions (via thermocoagulation) and/or neurostimulation (via chronic intracerebral implantation of electrodes) in thalamic nuclei (nucleus ventralis oralis posterior/intermedialis thalami; VOP/VIM) may alleviate rest tremor in PD patients. In principle neurostimulation has the significant advantage of reversibility with regard to side effects in comparison to lesion surgery. Furthermore ventro-posterior pallidotomy or chronic stimulation in this structures may ameliorate bradykinesia and levodopa-induced dyskinesias. Additionally, "switching-off" the subthalamic nucleus by neurostimulation has been reported to reduce rigidity, bradykinesia and levodopa-induced ON-OFF-fluctuations. On the other hand, neuronal transplantation of fetal nigral dopamine precursor cells aims at restoring the striatal dopamine deficit. Both animal and clinical experiments have shown that fetal grafts survive intrastriatal transplantation and may ensue moderate to satisfactory improvements, especially in regard to bradykinesia and ON-OFF-fluctuations. Further progress in the field of neuronal transplantation will largely depend on the development of alternative cell resources.

  8. Renal papillary attenuation differences between primary and recurrent idiopathic calcium stone disease patients.

    Science.gov (United States)

    Cakiroglu, B; Eyyupoglu, S E; Tas, T; Esen, T; Acar, O; Aksoy, S H

    2014-06-01

    The aim of this paper was to investigate whether renal papillae of patients with nephrolithiasis are more radiodense than that of control patients and to evaluate the predictability of urolithiasis using papillary density differences between stone and non-stone formers. Renal papillary Hounsfield Unit (HU) measurements were conducted at the level of upper pole, middle region and lower pole of both kidneys in a total of 126 primary (group 1), 133 recurrent (group 2) stone disease patients and 108 controls (group 3). Mean patient age did not differ significantly between groups (P>0.05). Mean stone diameters (±SD) were 5.0±3.1 mm (3-9 mm) and 6.1±3.3 mm (3-15 mm) for primary and recurrent groups, respectively and group distributions and variances were similar (P>0.05). Mean papillary attenuation values (±SD) were 27.26±9.30 (4.00-56.00) in group 1, 30.42±9.88 (12.00-64.00) in group 2 and 25.83±2.72 (20.30-32.56) in the control group. The difference between the mean papillary attenuation value of the primary stone disease group and the control group was statistically insignificant (P=0.104). When the control group and the recurrent stone group was compared without variances, in terms of the mean renal papillary attenuation value, a statistical significance was achieved (P=0.000). With increasing renal papillary HU values, the risk of recurrent calcium stone disease is increased.

  9. Genetics Home Reference: idiopathic pulmonary fibrosis

    Science.gov (United States)

    ... these health problems has idiopathic pulmonary fibrosis . Other respiratory diseases, some of which are less serious, can cause similar signs and symptoms. In people with idiopathic pulmonary fibrosis , scarring of the lungs increases over time until the lungs can no longer ...

  10. Automatic classification of patients with idiopathic Parkinson's disease and progressive supranuclear palsy using diffusion MRI datasets

    Science.gov (United States)

    Talai, Sahand; Boelmans, Kai; Sedlacik, Jan; Forkert, Nils D.

    2017-03-01

    Parkinsonian syndromes encompass a spectrum of neurodegenerative diseases, which can be classified into various subtypes. The differentiation of these subtypes is typically conducted based on clinical criteria. Due to the overlap of intra-syndrome symptoms, the accurate differential diagnosis based on clinical guidelines remains a challenge with failure rates up to 25%. The aim of this study is to present an image-based classification method of patients with Parkinson's disease (PD) and patients with progressive supranuclear palsy (PSP), an atypical variant of PD. Therefore, apparent diffusion coefficient (ADC) parameter maps were calculated based on diffusion-tensor magnetic resonance imaging (MRI) datasets. Mean ADC values were determined in 82 brain regions using an atlas-based approach. The extracted mean ADC values for each patient were then used as features for classification using a linear kernel support vector machine classifier. To increase the classification accuracy, a feature selection was performed, which resulted in the top 17 attributes to be used as the final input features. A leave-one-out cross validation based on 56 PD and 21 PSP subjects revealed that the proposed method is capable of differentiating PD and PSP patients with an accuracy of 94.8%. In conclusion, the classification of PD and PSP patients based on ADC features obtained from diffusion MRI datasets is a promising new approach for the differentiation of Parkinsonian syndromes in the broader context of decision support systems.

  11. Inverse association between yerba mate consumption and idiopathic Parkinson's disease. A case-control study.

    Science.gov (United States)

    Gatto, Emilia Mabel; Melcon, Carlos; Parisi, Virginia L; Bartoloni, Leonardo; Gonzalez, Claudio D

    2015-09-15

    Yerba mate tea is a very common beverage in some countries of South America. We conducted a case-control study on an individual basis using hospital records to investigate the association between Parkinson's disease (PD) and yerba mate intake. A case was defined as an age of ≥ 40 years with ≥ 1 year of PD. Each case was individually matched by two controls. Exposure was measured by yerba mate consumption, coffee, tea, and alcohol intake and smoking status. The sample consisted of 223 PD patients (mean age 68 years and mean disease duration 7.3 years) and 406 controls. There was an inverse association between yerba mate "bombilla" consumption and PD (OR 0.64, 95% CI: 0.54-0.76, p=0.00001). A multivariate analysis with a logistic regression adjusted by sex, alcohol intake and smoking provided the following results: yerba mate (OR 0.63, 95% CI: 0.53-0.76), tea (OR 0.60, 95% CI: 0.42-0.86), coffee (OR 0.51, 95% CI: 0.35-0.73). We found an inverse association between yerba mate consumption and PD. These results led us to hypothesize that yerba mate may have a potential protective role in the development of PD. Copyright © 2015 Elsevier B.V. All rights reserved.

  12. Nephrotic Syndrome and Idiopathic Membranous Nephropathy Associated with Autosomal-Dominant Polycystic Kidney Disease

    Science.gov (United States)

    Peces, Ramón; Martínez-Ara, Jorge; Peces, Carlos; Picazo, Mariluz; Cuesta-López, Emilio; Vega, Cristina; Azorín, Sebastián; Selgas, Rafael

    2011-01-01

    We report the case of a 38-year-old male with autosomal-dominant polycystic kidney disease (ADPKD) and concomitant nephrotic syndrome secondary to membranous nephropathy (MN). A 3-month course of prednisone 60 mg daily and losartan 100 mg daily resulted in resistance. Treatment with chlorambucil 0.2 mg/kg daily, low-dose prednisone, plus an angiotensin-converting enzyme inhibitor (ACEI) and an angiotensin II receptor blocker (ARB) for 6 weeks resulted in partial remission of his nephrotic syndrome for a duration of 10 months. After relapse of the nephrotic syndrome, a 13-month course of mycophenolate mofetil (MFM) 2 g daily and low-dose prednisone produced complete remission for 44 months. After a new relapse, a second 24-month course of MFM and low-dose prednisone produced partial to complete remission of proteinuria with preservation of renal function. Thirty-six months after MFM withdrawal, complete remission of nephrotic-range proteinuria was maintained and renal function was preserved. This case supports the idea that renal biopsy is needed for ADPKD patients with nephrotic-range proteinuria in order to exclude coexisting glomerular disease and for appropriate treatment/prevention of renal function deterioration. To the best of our knowledge, this is the first reported case of nephrotic syndrome due to MN in a patient with ADPKD treated with MFM, with remission of proteinuria and preservation of renal function after more than 10 years. Findings in this patient also suggest that MFM might reduce cystic cell proliferation and fibrosis, preventing progressive renal scarring with preservation of renal function. PMID:21552769

  13. Nephrotic Syndrome and Idiopathic Membranous Nephropathy Associated with Autosomal-Dominant Polycystic Kidney Disease

    Directory of Open Access Journals (Sweden)

    Ramón Peces

    2011-01-01

    Full Text Available We report the case of a 38-year-old male with autosomal-dominant polycystic kidney disease (ADPKD and concomitant nephrotic syndrome secondary to membranous nephropathy (MN. A 3-month course of prednisone 60 mg daily and losartan 100 mg daily resulted in resistance. Treatment with chlorambucil 0.2 mg/kg daily, low-dose prednisone, plus an angiotensin-converting enzyme inhibitor (ACEI and an angiotensin II receptor blocker (ARB for 6 weeks resulted in partial remission of his nephrotic syndrome for a duration of 10 months. After relapse of the nephrotic syndrome, a 13-month course of mycophenolate mofetil (MFM 2 g daily and low-dose prednisone produced complete remission for 44 months. After a new relapse, a second 24-month course of MFM and low-dose prednisone produced partial to complete remission of proteinuria with preservation of renal function. Thirty-six months after MFM withdrawal, complete remission of nephrotic-range proteinuria was maintained and renal function was preserved. This case supports the idea that renal biopsy is needed for ADPKD patients with nephrotic-range proteinuria in order to exclude coexisting glomerular disease and for appropriate treatment/prevention of renal function deterioration. To the best of our knowledge, this is the first reported case of nephrotic syndrome due to MN in a patient with ADPKD treated with MFM, with remission of proteinuria and preservation of renal function after more than 10 years. Findings in this patient also suggest that MFM might reduce cystic cell proliferation and fibrosis, preventing progressive renal scarring with preservation of renal function.

  14. A Comparison of Robotic Versus Laparoscopic Adrenalectomy in Patients With Primary Hyperaldosteronism.

    Science.gov (United States)

    Colvin, Jennifer; Krishnamurthy, Vikram; Jin, Judy; Shin, Joyce; Siperstein, Allan; Berber, Eren

    2017-10-01

    Over the last decade, robotic approaches have been described for removing adrenal tumors. Although there are reports comparing robotic and laparoscopic techniques in general, there are limited data on outcomes in patients with primary hyperaldosteronism (PHA). The aim of this study is to compare the safety and efficacy of robotic adrenalectomy (RA) versus laparoscopic adrenalectomy (LA) for PHA. The records of 20 patients who underwent RA for PHA were compared with 16 patients who underwent LA between 2000 and 2014. Data were retrospectively reviewed from a prospectively maintained, IRB-approved adrenal database. Statistical analysis was performed using t test and the Fisher exact analysis. Continuous variables are reported as mean±SEM. Demographic and clinical parameters were similar between the groups. There were no conversions to open in either group. Estimated blood loss, length of stay, and complication rates were comparable. Operative time was shorter in the robotic versus laparoscopic group (130±8.94 vs. 159±11.1 min, P=0.0487). In follow-up, the improvement in patients' blood pressure after adrenalectomy, as assessed by the reduction in the number of antihypertensive medications, was similar between the 2 groups. However, 1 patient in the RA and 1 patient in the LA group were not cured, as determined by postoperative aldosterone:renin levels. The biochemical cure rate between the groups was similar (P=0.529). To our knowledge, this is the first study comparing robotic versus laparoscopic resection of PHA. Our results show that the robotic approach was similar to laparoscopic regarding safety and efficacy. Operative time was shorter with the robotic approach, which could be related to more efficient dissection with wristed instrumentation.

  15. Brain metabolic correlates of dopaminergic degeneration in de novo idiopathic Parkinson's disease

    International Nuclear Information System (INIS)

    Berti, Valentina; Polito, Cristina; Vanzi, Eleonora; Cristofaro, Maria Teresa de; Pellicano, Giannantonio; Mungai, Francesco; Formiconi, Andreas Robert; Pupi, Alberto; Ramat, Silvia; Marini, Paolo; Sorbi, Sandro

    2010-01-01

    The aim of the present study was to evaluate the reciprocal relationships between motor impairment, dopaminergic dysfunction, and cerebral metabolism (rCMRglc) in de novo Parkinson's disease (PD) patients. Twenty-six de novo untreated PD patients were scanned with 123 I-FP-CIT SPECT and 18 F-FDG PET. The dopaminergic impairment was measured with putaminal 123 I-FP-CIT binding potential (BP), estimated with two different techniques: an iterative reconstruction algorithm (BP OSEM ) and the least-squares (LS) method (BP LS ). Statistical parametric mapping (SPM) multiple regression analyses were performed to determine the specific brain regions in which UPDRS III scores and putaminal BP values correlated with rCMRglc. The SPM results showed a negative correlation between UPDRS III and rCMRglc in premotor cortex, and a positive correlation between BP OSEM and rCMRglc in premotor and dorsolateral prefrontal cortex, not surviving at multiple comparison correction. Instead, there was a positive significant correlation between putaminal BP LS and rCMRglc in premotor, dorsolateral prefrontal, anterior prefrontal, and orbitofrontal cortex (p LS is an efficient parameter for exploring the correlations between PD severity and rCMRglc cortical changes. The correlation between dopaminergic degeneration and rCMRglc in several prefrontal regions likely represents the cortical functional correlate of the dysfunction in the motor basal ganglia-cortical circuit in PD. This finding suggests focusing on the metabolic course of these areas to follow PD progression and to analyze treatment effects. (orig.)

  16. Altered moral decision-making in patients with idiopathic Parkinson's disease.

    Science.gov (United States)

    Rosen, Jan B; Rott, Elisa; Ebersbach, Georg; Kalbe, Elke

    2015-10-01

    Moral decision-making essentially contributes to social conduct. Although patients with Parkinson's disease (PD) show deficits in (non-moral) decision making and related neuropsychological functions, i.e. executive functions, theory of mind (ToM), and empathy, moral decision-making has rarely been examined in PD patients. We examined possible alterations of moral decision-making and associated functions in PD. Twenty non-demented PD patients and 23 age- and education-matched healthy control participants were examined with tests that assess reasoning, executive functions (set-shifting and planning), ToM and empathy, decision-making under risk, and moral intuitions. Moral decision-making was assessed with a close-to-everyday moral dilemma paradigm that opposes socially oriented "altruistic" choices to self-beneficial "egoistic" choices in 20 moral dilemma short stories (10 high and 10 low emotional). Concurrently, electrodermal activity was recorded. PD patients made more egoistic moral decisions than healthy controls. Remarkably, while reasoning, planning and empathy correlated with moral decision-making in the control group, in the PD group neuropsychological functions and dopaminergic medication did not correlate with moral decisions. No evidence for reduced skin conductance responses in PD patients and no relationships between skin conductance responses and moral decisions were observed. This study provides evidence for moral decision-making dysfunctions in PD patients who made more egoistic moral decisions. As a possible underlying mechanism, reduced exercise of attentional control due to a dysfunctional interplay between the prefrontal cortex and the basal ganglia is discussed. Future research will have to determine the impact of PD patients' moral decision-making dysfunctions on everyday life and further determine correlates of the deficits. Copyright © 2015 Elsevier Ltd. All rights reserved.

  17. Occipital neuralgia associates with high cervical spinal cord lesions in idiopathic inflammatory demyelinating disease.

    Science.gov (United States)

    Kissoon, Narayan R; Watson, James C; Boes, Christopher J; Kantarci, Orhun H

    2018-01-01

    Background The association of trigeminal neuralgia with pontine lesions has been well documented in multiple sclerosis, and we tested the hypothesis that occipital neuralgia in multiple sclerosis is associated with high cervical spinal cord lesions. Methods We retrospectively reviewed the records of 29 patients diagnosed with both occipital neuralgia and demyelinating disease by a neurologist from January 2001 to December 2014. We collected data on demographics, clinical findings, presence of C2-3 demyelinating lesions, and treatment responses. Results The patients with both occipital neuralgia and multiple sclerosis were typically female (76%) and had a later onset (age > 40) of occipital neuralgia (72%). Eighteen patients (64%) had the presence of C2-3 lesions and the majority had unilateral symptoms (83%) or episodic pain (78%). All patients with documented sensory loss (3/3) had C2-3 lesions. Most patients with progressive multiple sclerosis (6/8) had C2-3 lesions. Of the eight patients with C2-3 lesions and imaging at onset of occipital neuralgia, five (62.5%) had evidence of active demyelination. None of the patients with progressive multiple sclerosis (3/3) responded to occipital nerve blocks or high dose intravenous steroids, whereas all of the other phenotypes with long term follow-up (eight patients) had good responses. Conclusions A cervical spine MRI should be considered in all patients presenting with occipital neuralgia. In patients with multiple sclerosis, clinical features in occipital neuralgia that were predictive of the presence of a C2-3 lesion were unilateral episodic symptoms, sensory loss, later onset of occipital neuralgia, and progressive multiple sclerosis phenotype. Clinical phenotype predicted response to treatment.

  18. Brain metabolic correlates of dopaminergic degeneration in de novo idiopathic Parkinson's disease

    Energy Technology Data Exchange (ETDEWEB)

    Berti, Valentina; Polito, Cristina; Vanzi, Eleonora; Cristofaro, Maria Teresa de; Pellicano, Giannantonio; Mungai, Francesco; Formiconi, Andreas Robert; Pupi, Alberto [University of Florence, Department of Clinical Pathophysiology, Florence (Italy); Ramat, Silvia; Marini, Paolo; Sorbi, Sandro [University of Florence, Department of Psychiatric and Neurological Sciences, Florence (Italy)

    2010-03-15

    The aim of the present study was to evaluate the reciprocal relationships between motor impairment, dopaminergic dysfunction, and cerebral metabolism (rCMRglc) in de novo Parkinson's disease (PD) patients. Twenty-six de novo untreated PD patients were scanned with {sup 123}I-FP-CIT SPECT and {sup 18}F-FDG PET. The dopaminergic impairment was measured with putaminal {sup 123}I-FP-CIT binding potential (BP), estimated with two different techniques: an iterative reconstruction algorithm (BP{sub OSEM}) and the least-squares (LS) method (BP{sub LS}). Statistical parametric mapping (SPM) multiple regression analyses were performed to determine the specific brain regions in which UPDRS III scores and putaminal BP values correlated with rCMRglc. The SPM results showed a negative correlation between UPDRS III and rCMRglc in premotor cortex, and a positive correlation between BP{sub OSEM} and rCMRglc in premotor and dorsolateral prefrontal cortex, not surviving at multiple comparison correction. Instead, there was a positive significant correlation between putaminal BP{sub LS} and rCMRglc in premotor, dorsolateral prefrontal, anterior prefrontal, and orbitofrontal cortex (p < 0.05, corrected for multiple comparison). Putaminal BP{sub LS} is an efficient parameter for exploring the correlations between PD severity and rCMRglc cortical changes. The correlation between dopaminergic degeneration and rCMRglc in several prefrontal regions likely represents the cortical functional correlate of the dysfunction in the motor basal ganglia-cortical circuit in PD. This finding suggests focusing on the metabolic course of these areas to follow PD progression and to analyze treatment effects. (orig.)

  19. Idiopathic granulomatous mastitis

    International Nuclear Information System (INIS)

    Ozturk, E.; Akin, M.; Can, Mehmet F.; Ozrehan, I.; Yagci, G.; Tufan, T.; Kurt, B.

    2009-01-01

    Objective was to discuss the clinical and radiological features and treatment approaches in 14 patients diagnosed with idiopathic granulomatous mastitis (GM). We retrospectively evaluated the clinical features, radiological findings and treatment approaches in 14 patients with idiopathic GM in the General Surgery Department, Gulhane School of Medicine, Ankara, Turkey between April 2000 and June 2006. The mean age of the patients was 34.5 years (range 27-41 years). The complaints at admission were a mass in the breast in 7 (50%) patients, an abscess and a mass in 6 (42.8%) and a skin fisculain one (7.2%). Granulomatous mastitis was unilateral in all subjects (on the right in 5 patients and on the left in 9). All of the patients underwent ultrasonographic evaluation. Mammography was performed in 8 and magnetic resonance imaging in 5 patients. Seven patients (50%) were suspected to have breast carcinoma according radiological findings. We performed the large excision in 11, incisional biopsy plus abscess drainage in one, and incisional biopsy plus abscess drainage plus medical treatment (prednisolone, methotrexate) in 2 patients. Due to the development of abscess after 9 months, drainage and large excision were performed in one patient who received medical treatment. Idiopathic GM is a disease that generally affects young women of reproductive age and may be mistaken for breast carcinoma in clinical and radiological evaluations. The gold standard for the diagnosis is histopathologic evaluation. (author)

  20. Evidence of an amnesia-like cued-recall memory impairment in nondementing idiopathic Parkinson's disease.

    Science.gov (United States)

    Edelstyn, Nicola M J; John, Christopher M; Shepherd, Thomas A; Drakeford, Justine L; Clark-Carter, David; Ellis, Simon J; Mayes, Andrew R

    2015-10-01

    Medicated, non-dementing mild-to-moderate Parkinson's disease (PD) patients usually show recall/recollection impairments but have only occasionally shown familiarity impairments. We aimed to assess two explanations of this pattern of impairment. Recollection typically improves when effortful planning of encoding and retrieval processing is engaged. This depends on prefrontally-dependent executive processes, which are often disrupted in PD. Relative to an unguided encoding and retrieval of words condition (C1), giving suitable guidance at encoding alone (C2) or at encoding and retrieval (C3) should, if executive processes are disrupted, improve PD recollection more than control recollection and perhaps raise it to normal levels. Familiarity, being a relatively automatic kind of memory, whether impaired or intact, should be unaffected by guidance. According to the second explanation, PD deficits are amnesia-like and caused by medial temporal lobe dysfunction and although poorer recollection, which is caused by hippocampal disruption, may be improved by guidance, it should not improve more than control recollection. Familiarity impairment will also occur if the perirhinal cortex is disrupted, but will be unimproved by guidance. Without guidance, recollection/recall was impaired in thirty PD patients relative to twenty-two healthy controls and remained relatively equally impaired when full guidance was provided (C1 vs C3), both groups improving to broadly the same extent. Although impaired, and markedly less so than recollection, familiarity was not improved by guidance in both groups. The patients showed elevated rates of subclinical depressive symptoms, which weakly correlated with recall/recollection in all three conditions. PD executive function was also deficient and correlated with unguided/C1 recollection only. Our results are consistent with a major cause of the patients' recall/recollection impairments being hippocampal disruption, probably exacerbated by

  1. Idiopathic Scoliosis

    Directory of Open Access Journals (Sweden)

    Jens Ivar Brox

    2014-07-01

    Full Text Available Idiopathic scoliosis (IS is a lifetime condition and is defined as a structural, lateral rotated curvature of the spine of >10° on standing coronal plane radiographs. It should be distinguished from other causes of scoliosis. It can be classified as infantile, juvenile, and adolescent according to age. As a rule of thumb, about 80% of all curves are idiopathic, right convex thoracic, and present in otherwise healthy girls at the beginning of puberty. A family member most commonly detects scoliosis. The structural asymmetry of the spine is best observed by asking the patient to bend forward. IS is often seen in more than one member of a family, but the aetiology remains unknown. Multiple genes are likely to be involved with incomplete penetrance and variable expressivity. Early detection by screening allows for monitoring curve progression and timely initiation of bracing, but school screening is controversial and practises vary worldwide. Most patients have minor scoliosis and treatment is generally not recommended for patients with curves 45°. Scoliosis surgery was not successful until the introduction of Harrington’s instrumentation in the 1960s. Modern instrumentation has evolved from the Cotrel-Dubousset system in the 1980s, and a variety of methods are available today. Although scoliosis may be a burden, long-term studies suggest that a good quality of life is maintained in most patients.

  2. Idiopathic pulmonary fibrosis.

    Science.gov (United States)

    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.

  3. Syphilis mimicking idiopathic intracranial hypertension

    DEFF Research Database (Denmark)

    Yri, Hanne; Wegener, Marianne; Jensen, Rigmor

    2011-01-01

    Idiopathic intracranial hypertension (IIH) is a condition of yet unknown aetiology affecting predominantly obese females of childbearing age. IIH is a diagnosis of exclusion as raised cerebrospinal fluid pressure may occur secondary to numerous other medical conditions. An atypical phenotype...... or an atypical disease course should alert the physician to reevaluate a presumed IIH-diagnosis. The authors report a case of a 32-year-old non-obese male with intracranial hypertension, secondary to a syphilitic central nervous system infection, initially misdiagnosed as being idiopathic. Upon relevant...

  4. Genetics Home Reference: juvenile idiopathic arthritis

    Science.gov (United States)

    ... disease to fight microbial invaders and facilitate tissue repair. Normally, the body stops the inflammatory response after healing is complete to prevent damage to its own cells and tissues. In people with juvenile idiopathic arthritis , the inflammatory ...

  5. Fahr's syndrome - Idiopathic Bilateral Striopallidodentate Calcinosis ...

    African Journals Online (AJOL)

    Log in or Register to get access to full text downloads. ... Fehr's disease, also known as Idiopathic Calcification of the Basal Ganglia (ICBG) or ... ferrocalcinosis (and many others), is a rare sporadic or familial neurological disorder whose ...

  6. Aetiology of idiopathic granulomatous mastitis.

    Science.gov (United States)

    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.

  7. Idiopathic megarectum in children.

    Science.gov (United States)

    Godbole, P P; Pinfield, A; Stringer, M D

    2001-02-01

    There is scant information about the management of idiopathic megarectum in childhood. Children with idiopathic megarectum referred to a single institution between 1994 and 1998 were identified prospectively. Those with Hirschsprung's disease or an anorectal malformation were excluded. The remaining patient group, 22 boys and 7 girls, had a median age of 8.0 years (range 3.5-14.0 y). Median duration of symptoms prior to referral was 2.0 years (range 0.4-11 y). Chronic soiling was the dominant complaint in 28/29 (97%) cases. 23 children had received regular stimulant laxatives for periods ranging from 1 month to 11 years, and 9 children had been treated with regular enemas. The degree of megarectum assessed by both abdominal palpation and plain radiography was: grade 1 (below umbilical level) n=6; grade 2 (at umbilical level) n=15; and grade 3 (above umbilical level) n=8. Hirschsprung's disease was specifically excluded by rectal biopsy in all cases and no patient had evidence of spinal dysraphism. Three boys with massive megarectums and intractable symptoms were treated by a staged Duhamel sigmoid pull-through with excellent functional results. Fifteen patients (52%) were treated by a single manual evacuation under general anaesthesia followed by a daily Bisacodyl 5-10 mg suppository. After a median follow-up of 16 months, 13 continue to respond well with a daily bowel action and no soiling (4 of the 13 have discontinued treatment and remain well). The remaining 11 patients (38%) have continued conventional treatment with oral laxatives but with limited success. Idiopathic megarectum is poorly described in children. It is more common in boys and is often resistant to laxative therapy alone. After appropriate preparation, treatment with stimulant suppositories can be effective. Surgery has a valuable role in selected patients with a massive megarectum.

  8. Manganese- and 1-methyl-4-phenylpyridinium-induced neurotoxicity display differences in morphological, electrophysiological and genome-wide alterations: implications for idiopathic Parkinson's disease.

    Science.gov (United States)

    Mythri, Rajeswara Babu; Raghunath, Narayana Reddy; Narwade, Santosh Chandrakant; Pandareesh, Mirazkar Dasharatha Rao; Sabitha, Kollarkandi Rajesh; Aiyaz, Mohamad; Chand, Bipin; Sule, Manas; Ghosh, Krittika; Kumar, Senthil; Shankarappa, Bhagyalakshmi; Soundararajan, Soundarya; Alladi, Phalguni Anand; Purushottam, Meera; Gayathri, Narayanappa; Deobagkar, Deepti Dileep; Laxmi, Thenkanidiyoor Rao; Srinivas Bharath, Muchukunte Mukunda

    2017-11-01

    Idiopathic Parkinson's disease and manganese-induced atypical parkinsonism are characterized by movement disorder and nigrostriatal pathology. Although clinical features, brain region involved and responsiveness to levodopa distinguish both, differences at the neuronal level are largely unknown. We studied the morphological, neurophysiological and molecular differences in dopaminergic neurons exposed to the Parkinson's disease toxin 1-methyl-4-phenylpyridinium ion (MPP + ) and manganese (Mn), followed by validation in the 1-methyl-4-phenyl-1,2,3,6-tetrahydropyridine and Mn mouse models. Morphological analysis highlighted loss of neuronal processes in the MPP + and not the Mn model. Cellular network dynamics of dopaminergic neurons characterized by spike frequency and inter-spike intervals indicated major neuronal population (~ 93%) with slow discharge rates (0-5 Hz). While MPP + exposure suppressed the firing of these neurons, Mn neither suppressed nor elevated the neuronal activity. High-throughput transcriptomic analysis revealed up-regulation of 694 and 603 genes and down-regulation of 428 and 255 genes in the MPP + and Mn models respectively. Many differentially expressed genes were unique to either models and contributed to neuroinflammation, metabolic/mitochondrial function, apoptosis and nuclear function, synaptic plasticity, neurotransmission and cytoskeleton. Analysis of the Janus kinase-signal transducer and activator of transcription pathway with implications for neuritogenesis and neuronal proliferation revealed contrasting profile in both models. Genome-wide DNA methylomics revealed differences between both models and substantiated the epigenetic basis of the difference in the Janus kinase-signal transducer and activator of transcription pathway. We conclude that idiopathic Parkinson's disease and atypical parkinsonism have divergent neurotoxicological manifestation at the dopaminergic neuronal level with implications for pathobiology and evolution

  9. Living with idiopathic basal ganglia calcification 3: a qualitative study describing the lives and illness of people diagnosed with a rare neurological disease.

    Science.gov (United States)

    Takeuchi, Tomiko; Muraoka, Koko; Yamada, Megumi; Nishio, Yuri; Hozumi, Isao

    2016-01-01

    Idiopathic basal ganglia calcification (IBGC) is a rare, intractable disease with unknown etiology. IBGC3 is a familial genetic disease defined by genetic mutations in the major causative gene ( SLC20A2 ). People with IBGC3 experience distress from the uncommon nature of their illness and uncertainty about treatment and prognoses. The present study aimed to describe the lives and illness of people with IBGC3. Participants were recruited from patients aged 20 years or older enrolled in a genetic study, who were diagnosed with IBGC3 and wanted to share their experiences. In-depth semi-structured interviews were conducted with six participants. Interviews were conducted between December 2012 and February 2014, and were recorded and transcribed verbatim. Qualitative data analysis was performed to identify categories and subcategories. Efforts were made to ensure the credibility, transferability, dependability, conformability, and validity of the data. Six thematic categories, 17 subcategories, and 143 codes emerged. The six categories were: (1) Frustration and anxiety with progression of symptoms without a diagnosis; (2) Confusion about diagnosis with an unfamiliar disease; (3) Emotional distress caused by a genetic disease; (4) Passive attitude toward life, being extra careful; (5) Taking charge of life, becoming active and engaged; and (6) Requests for healthcare. The qualitative data analysis indicated a need for genetic counseling, access to disease information, establishment of peer and family support systems, mental health services, and improvement in early intervention and treatment for the disease.

  10. Idiopathic short stature

    Directory of Open Access Journals (Sweden)

    Vlaški Jovan

    2013-01-01

    Full Text Available Growth is a complex process and the basic characteristic of child- hood growth monitoring provides insight into the physiological and pathological events in the body. Statistically, the short stature means departure from the values of height for age and sex (in a particular environment, which is below -2 standard deviation score, or less than -2 standard deviation, i.e. below the third percentile. Advances in molecular genetics have contributed to the improvement of diagnostics in endocrinology. Analysis of patients’ genotypes should not be performed before taking a classical history, detailed clinical examination and appropriate tests. In patients with idiopathic short stature specific causes are excluded, such as growth hormone deficiency, Turner syndrome, short stature due to low birth weight, intrauterine growth retardation, small for gestational age, dysmorphology syndromes and chronic childhood diseases. The exclusion of abovementioned conditions leaves a large number of children with short stature whose etiology includes patients with genetic short stature or familial short stature and those who are low in relation to genetic potential, and who could also have some unrecognized endocrine defect. Idiopathic short stature represents a short stature of unknown cause of heterogeneous etiology, and is characterized by a normal response of growth hormone during stimulation tests (>10 ng/ml or 20 mJ/l, without other disorders, of normal body mass and length at birth. In idiopathic short stature standard deviation score rates <-2.25 (-2 to -3 or <1.2 percentile. These are also criteria for the initiation of growth hormone therapy. In children with short stature there is also the presence of psychological and social suffering. Goals of treatment with growth hormone involve achieving normal height and normal growth rate during childhood.

  11. Idiopathic portal hypertension

    International Nuclear Information System (INIS)

    Han, Tae Kyun; Ryu, Dae Sik; Kim, Heung Chul; Hur, Hun; Eom, Kyeung Tae; Namkung, Sook; Park, Man Soo; Hwang, Woo Chul; Lee, Kwan Seop

    1996-01-01

    To describe the radiologic findings of idiopathic portal hypertension and to find the points of differentiation between idiopathic portal hypertension and liver cirrhosis. Four portograms in five patients who for four years had suffered from pathologically confirmed idiopathic portal hypertension were retrospectively analyzed and compared with a portogram obtained from a control subject with liver cirrhosis. Portographic finding s of idiopathic portal hypertension were paucity of medium-sized portal branches, irregular and obtuse-angled division of peripheral branches, abrupt interruption and an avascular area beneath the liver margin. A portogram of idiopathic portal hypertension may be useful in differentiation this and liver cirrhosis

  12. Plasma Vascular Endothelial Growth Factor Concentration and Alveolar Nitric Oxide as Potential Predictors of Disease Progression and Mortality in Idiopathic Pulmonary Fibrosis

    Directory of Open Access Journals (Sweden)

    Jalpa Kotecha

    2016-09-01

    Full Text Available Background: Declining lung function signifies disease progression in idiopathic pulmonary fibrosis (IPF. Vascular endothelial growth factor (VEGF concentration is associated with declining lung function in 6 and 12-month studies. Alveolar nitric oxide concentration (CANO is increased in patients with IPF, however its significance is unclear. This study investigated whether baseline plasma VEGF concentration and CANO are associated with disease progression or mortality in IPF. Methods: 27 IPF patients were studied (maximum follow-up 65 months. Baseline plasma VEGF concentration, CANO and pulmonary function tests (PFTs were measured. PFTs were performed the preceding year and subsequent PFTs and data regarding mortality were collected. Disease progression was defined as one of: death, relative decrease of ≥10% in baseline forced vital capacity (FVC % predicted, or relative decrease of ≥15% in baseline single breath diffusion capacity of carbon monoxide (TLCO-SB % predicted. Results: Plasma VEGF concentration was not associated with progression-free survival or mortality. There was a trend towards shorter time to disease progression and death with higher CANO. CANO was significantly higher in patients with previous declining versus stable lung function. Conclusion: The role of VEGF in IPF remains uncertain. It may be of value to further investigate CANO in IPF.

  13. Comparing new treatments for idiopathic pulmonary fibrosis--a network meta-analysis.

    LENUS (Irish Health Repository)

    Loveman, Emma

    2015-01-01

    The treatment landscape for idiopathic pulmonary fibrosis, a devastating lung disease, is changing. To investigate the effectiveness of treatments for idiopathic pulmonary fibrosis we undertook a systematic review, network meta-analysis and indirect comparison.

  14. Idiopathic Normal Pressure Hydrocephalus

    Directory of Open Access Journals (Sweden)

    Basant R. Nassar BS

    2016-04-01

    Full Text Available Idiopathic normal pressure hydrocephalus (iNPH is a potentially reversible neurodegenerative disease commonly characterized by a triad of dementia, gait, and urinary disturbance. Advancements in diagnosis and treatment have aided in properly identifying and improving symptoms in patients. However, a large proportion of iNPH patients remain either undiagnosed or misdiagnosed. Using PubMed search engine of keywords “normal pressure hydrocephalus,” “diagnosis,” “shunt treatment,” “biomarkers,” “gait disturbances,” “cognitive function,” “neuropsychology,” “imaging,” and “pathogenesis,” articles were obtained for this review. The majority of the articles were retrieved from the past 10 years. The purpose of this review article is to aid general practitioners in further understanding current findings on the pathogenesis, diagnosis, and treatment of iNPH.

  15. IL-6 blockade in systemic juvenile idiopathic arthritis - achievement of inactive disease and remission (data from the German AID-registry).

    Science.gov (United States)

    Bielak, M; Husmann, E; Weyandt, N; Haas, J-P; Hügle, B; Horneff, G; Neudorf, U; Lutz, T; Lilienthal, E; Kallinich, T; Tenbrock, K; Berendes, R; Niehues, T; Wittkowski, H; Weißbarth-Riedel, E; Heubner, G; Oommen, P; Klotsche, J; Foell, Dirk; Lainka, E

    2018-04-05

    Systemic juvenile idiopathic arthritis (sJIA) is a complex disease with an autoinflammatory component of unknown etiology related to the innate immune system. A major role in the pathogenesis has been ascribed to proinflammatory cytokines like interleukin-6 (IL-6), and effective drugs inhibiting their signaling are being developed. This study evaluates sJIA patients treated with the IL-6 inhibitor tocilizumab (TCZ) concerning clinical response rate, disease course and adverse effects in a real-life clinical setting. In 2009 a clinical and research consortium was established, including an online registry for autoinflammatory diseases (AID) ( https://aid-register.de ). Data for this retrospective TCZ study were documented by 13 centers. From 7/2009 to 4/2014, 200 patients with sJIA were recorded in the AID-registry. Out of these, 46 (19 m, 27 f, age 1-18 years) received therapy with TCZ. Long term treatment (median 23 months) has been documented in 24/46 patients who were evaluated according to Wallace criteria (active disease 6/24, inactive disease 5/24, remission 13/24 cases). Under observation co-medication were used in 40/46 cases. Adverse events were reported in 11/46 patients. The clinical response rate (no clinical manifestation, no increased inflammation parameters) within the first 12 weeks of treatment was calculated to be 35%. Out of 200 sJIA children reported in the German AID-registry, 46 were treated with TCZ, showing a clinical response rate of 35% during the first 12 weeks, and inactive disease and/or remission under medication in 75% after one year. Adverse events were seen in 24% and severe adverse events in 4%. The AID-Registry is funded by the BMBF (01GM08104, 01GM1112D, 01GM1512D).

  16. Patient-reported outcomes and adult patients' disease experience in the idiopathic inflammatory myopathies. report from the OMERACT 11 Myositis Special Interest Group.

    Science.gov (United States)

    Alexanderson, Helene; Del Grande, Maria; Bingham, Clifton O; Orbai, Ana-Maria; Sarver, Catherine; Clegg-Smith, Katherine; Lundberg, Ingrid E; Song, Yeong Wook; Christopher-Stine, Lisa

    2014-03-01

    The newly formed Outcome Measures in Rheumatology (OMERACT) Myositis Special Interest Group (SIG) was established to examine patient-reported outcome measures (PROM) in myositis. At OMERACT 11, a literature review of PROM used in the idiopathic inflammatory myopathies (IIM) and other neuromuscular conditions was presented. The group examined in more detail 2 PROM more extensively evaluated in patients with IIM, the Myositis Activities Profile, and the McMaster-Toronto Arthritis Patient Preference Disability Questionnaire, through the OMERACT filter of truth, discrimination, and feasibility. Preliminary results from a qualitative study of patients with myositis regarding their symptoms were discussed that emphasized the range of symptoms experienced: pain, physical tightness/stiffness, fatigue, disease effect on emotional life and relationships, and treatment-related side effects. Following discussion of these results and following additional discussions since OMERACT 11, a research agenda was developed. The next step in evaluating PROM in IIM will require additional focus groups with a spectrum of patients with different myositis disease phenotypes and manifestations across a range of disease activity, and from multiple international settings. The group will initially focus on dermatomyositis and polymyositis in adults. Qualitative analysis will facilitate the identification of commonalities and divergent patient-relevant aspects of disease, insights that are critical given the heterogeneous manifestations of these diseases. Based on these qualitative studies, existing myositis PROM can be examined to more thoroughly assess content validity, and will be important to identify gaps in domain measurement that will be required to develop a preliminary core set of patient-relevant domains for IIM.

  17. Safety and efficacy of rasagiline in addition to levodopa for the treatment of idiopathic Parkinson's disease: a meta-analysis of randomised controlled trials.

    Science.gov (United States)

    Cai, Jiang-Ping; Chen, Wan-Jin; Lin, Yu; Cai, Bin; Wang, Ning

    2015-01-01

    To assess the safety and efficacy of rasagiline for the treatment of Parkinson's disease (PD) among individuals currently receiving levodopa. A systematic literature search was conducted to identify randomised controlled trials (RCT) comparing rasagiline with placebo/no treatment in individuals with PD currently receiving levodopa. Outcome measures included improvement in motor functions; symptomatic improvement; improvement in quality of life; adverse effects. Random-effect meta-analytical techniques were conducted for the outcome measure and subgroup analyses. Three RCTs were included (n = 1002). The results showed significantly greater improvements in daily 'on' time without dyskinesia in levodopa-treated participants with idiopathic PD receiving 1 mg/day rasagiline compared to placebo (n = 712, 2 RCTs, MD 0.80, CI 0.45 to 1.15; p rasagiline (0.5 mg/day: n = 282, MD -2.91, CI -4.59 to -1.23; p = 0.0007; 1 mg/day: n = 712, 2 RCTs, MD -2.91, CI -4.02 to -1.80; p rasagiline in addition to levodopa is a safe and well-tolerated combination therapy for individuals with Parkinson's disease.

  18. Epidemiology of idiopathic pulmonary fibrosis

    Directory of Open Access Journals (Sweden)

    Ley B

    2013-11-01

    Full Text Available Brett Ley, Harold R Collard Department of Medicine, Division of Pulmonary and Critical Care Medicine, University of California San Francisco, San Francisco, California, USA Abstract: Idiopathic pulmonary fibrosis is a chronic fibrotic lung disease of unknown cause that occurs in adults and has a poor prognosis. Its epidemiology has been difficult to study because of its rarity and evolution in diagnostic and coding practices. Though uncommon, it is likely underappreciated both in terms of its occurrence (ie, incidence, prevalence and public health impact (ie, health care costs and resource utilization. Incidence and mortality appear to be on the rise, and prevalence is expected to increase with the aging population. Potential risk factors include occupational and environmental exposures, tobacco smoking, gastroesophageal reflux, and genetic factors. An accurate understanding of its epidemiology is important, especially as novel therapies are emerging. Keywords: idiopathic pulmonary fibrosis, epidemiology, incidence, prevalence, mortality, risk factors

  19. Idiopathic pulmonary fibrosis

    Directory of Open Access Journals (Sweden)

    Noble Paul W

    2008-03-01

    Full Text Available Abstract Idiopathic pulmonary fibrosis (IPF is a non-neoplastic pulmonary disease that is characterized by the formation of scar tissue within the lungs in the absence of any known provocation. IPF is a rare disease which affects approximately 5 million persons worldwide. The prevalence is estimated to be slightly greater in men (20.2/100,000 than in women (13.2/100,000. The mean age at presentation is 66 years. IPF initially manifests with symptoms of exercise-induced breathless and dry coughing. Auscultation of the lungs reveals early inspiratory crackles, predominantly located in the lower posterior lung zones upon physical exam. Clubbing is found in approximately 50% of IPF patients. Cor pulmonale develops in association with end-stage disease. In that case, classic signs of right heart failure may be present. Etiology remains incompletely understood. Some environmental factors may be associated with IPF (cigarette smoking, exposure to silica and livestock. IPF is recognized on high-resolution computed tomography by peripheral, subpleural lower lobe reticular opacities in association with subpleural honeycomb changes. IPF is associated with a pathological lesion known as usual interstitial pneumonia (UIP. The UIP pattern consists of normal lung alternating with patches of dense fibrosis, taking the form of collagen sheets. The diagnosis of IPF requires correlation of the clinical setting with radiographic images and a lung biopsy. In the absence of lung biopsy, the diagnosis of IPF can be made by defined clinical criteria that were published in guidelines endorsed by several professional societies. Differential diagnosis includes other idiopathic interstitial pneumonia, connective tissue diseases (systemic sclerosis, polymyositis, rheumatoid arthritis, forme fruste of autoimmune disorders, chronic hypersensitivity pneumonitis and other environmental (sometimes occupational exposures. IPF is typically progressive and leads to significant

  20. Idiopathic Retroperitoneal Hematoma

    African Journals Online (AJOL)

    6. Stewart BT, McLaughlin SJ, Thompson GA. Spontaneous retroperitoneal haemorrhage:a general surgeon's perspective. Aust N. Z J Surg 1998;68:371-3. Monib, et al.: Idiopathic retroperitoneal hematoma. How to cite this article: Monib S, Ritchie A, Thabet E. Idiopathic retroperitoneal hematoma. J Surg Tech Case Report ...

  1. Idiopathic inflammatory myositis.

    Science.gov (United States)

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

    2016-02-01

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

  2. Idiopathic (primary achalasia

    Directory of Open Access Journals (Sweden)

    Vaezi Michael F

    2007-09-01

    Full Text Available Abstract 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.

  3. Idiopathic (primary) achalasia

    Science.gov (United States)

    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

  4. Postural Stabilization Differences in Idiopathic Parkinson’s Disease and Progressive Supranuclear Palsy during Self-Triggered Fast Forward Weight Lifting

    Directory of Open Access Journals (Sweden)

    Stefan Kammermeier

    2018-01-01

    Full Text Available Progressive supranuclear palsy (PSP and late-stage idiopathic Parkinson’s disease (IPD are neurodegenerative movement disorders resulting in different postural instability and falling symptoms. IPD falls occur usually forward in late stage, whereas PSP falls happen in early stages, mostly backward, unprovoked, and with high morbidity. Self-triggered, weighted movements appear to provoke falls in IPD, but not in PSP. Repeated self-triggered lifting of a 0.5–1-kg weight (<2% of body weight with the dominant hand was performed in 17 PSP, 15 IPD with falling history, and 16 controls on a posturography platform. PSP showed excessive force scaling of weight and body motion with high-frequency multiaxial body sway, whereas IPD presented a delayed-onset forward body displacement. Differences in center of mass displacement apparent at very small weights indicate that both syndromes decompensate postural control already within stability limits. PSP may be subject to specific postural system devolution. IPD are susceptible to delayed forward falling. Differential physiotherapy strategies are suggested.

  5. Rozrolimupab, symphobodies against rhesus D, for the potential prevention of hemolytic disease of the newborn and the treatment of idiopathic thrombocytopenic purpura.

    Science.gov (United States)

    Stasi, Roberto

    2010-12-01

    Currently under codevelopment by Symphogen and Swedish Orphan Biovitrum, rozrolimupab is the first in a new class of recombinant polyclonal antibodies, known as symphobodies, produced using a proprietary technology from Symphogen. Rozrolimupab is being investigated for the prevention of hemolytic disease of the fetus and newborn (HDFN) and for the treatment of idiopathic thrombocytopenic purpura (ITP). Rozrolimupab comprises 25 genetically unique IgG1 antibodies, all of which are specific for the rhesus D (RhD) erythrocyte protein. In preclinical studies, rozrolimupab demonstrated binding to erythrocytes that was comparable with that of two plasma-derived anti-D Ig preparations. In a phase I clinical trial in healthy male volunteers, treatment with rozrolimupab was not associated with serious adverse events. In a phase II clinical trial of rozrolimupab in healthy, male, RhD-negative volunteers, rozrolimupab dose-dependently cleared RhD-positive erythrocytes from the circulation. Phase II clinical trials in ITP and HDFN are currently ongoing. Phase III clinical trials are necessary to establish the efficacy and safety profile of rozrolimupab compared with standard plasma-derived anti-D Ig preparations.

  6. Exergaming as a Viable Therapeutic Tool to Improve Static and Dynamic Balance among Older Adults and People with Idiopathic Parkinson's Disease: A Systematic Review and Meta-Analysis.

    Science.gov (United States)

    Harris, Dale M; Rantalainen, Timo; Muthalib, Makii; Johnson, Liam; Teo, Wei-Peng

    2015-01-01

    The use of virtual reality games (known as "exergaming") as a neurorehabilitation tool is gaining interest. Therefore, we aim to collate evidence for the effects of exergaming on the balance and postural control of older adults and people with idiopathic Parkinson's disease (IPD). Six electronic databases were searched, from inception to April 2015, to identify relevant studies. Standardized mean differences (SMDs) and 95% confidence intervals (CI) were used to calculate effect sizes between experimental and control groups. I (2) statistics were used to determine levels of heterogeneity. 325 older adults and 56 people with IPD who were assessed across 11 -studies. The results showed that exergaming improved static balance (SMD 1.069, 95% CI 0.563-1.576), postural control (SMD 0.826, 95% CI 0.481-1.170), and dynamic balance (SMD -0.808, 95% CI -1.192 to -0.424) in healthy older adults. Two IPD studies showed an improvement in static balance (SMD 0.124, 95% CI -0.581 to 0.828) and postural control (SMD 2.576, 95% CI 1.534-3.599). Our findings suggest that exergaming might be an appropriate therapeutic tool for improving balance and postural control in older adults, but more -large-scale trials are needed to determine if the same is true for people with IPD.

  7. Guidelines for the diagnosis and treatment of idiopathic pulmonary fibrosis. Sociedad Española de Neumología y Cirugía Torácica (SEPAR) Research Group on Diffuse Pulmonary Diseases.

    Science.gov (United States)

    Xaubet, Antoni; Ancochea, Julio; Bollo, Elena; Fernández-Fabrellas, Estrella; Franquet, Tomás; Molina-Molina, Maria; Montero, Maria Angeles; Serrano-Mollar, Anna

    2013-08-01

    Idiopathic pulmonary fibrosis is defined as a chronic fibrosing interstitial pneumonia limited to the lung, of unknown cause, with poor prognosis and few treatment options. In recent years there has been an increase in their prevalence, probably due to the optimization of diagnostic methods and increased life expectancy. The ATS/ERS Consensus (2000) established the diagnostic criteria and recommendations for the assessment of the disease course and treatment. Later studies have helped to redefine diagnostic criteria and treatment options. In 2011, an international consensus was published, establishing diagnostic criteria and new treatment strategies. These guidelines have been updated with the newest aspects of diagnosis and treatment of idiopathic pulmonary fibrosis. A level of evidence has been identified for the most relevant questions, particularly with regard to treatment options. Copyright © 2012 SEPAR. Published by Elsevier Espana. All rights reserved.

  8. Intestinal Volvulus in Idiopathic Steatorrhea

    Science.gov (United States)

    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

  9. Idiopathic pulmonary fibrosis is associated with increased impedance measures of reflux compared to non-fibrotic disease among pre-lung transplant patients.

    Science.gov (United States)

    Gavini, S; Finn, R T; Lo, W-K; Goldberg, H J; Burakoff, R; Feldman, N; Chan, W W

    2015-09-01

    Gastroesophageal reflux (GER) has been associated with idiopathic pulmonary fibrosis (IPF), although the mechanism remains unclear. Gastroesophageal reflux/microaspiration may lead to lung fibrosis, while increased pulmonary workload may also worsen GER. Comparing the GER profile of IPF patients to chronic obstructive pulmonary disease (COPD) patients with similar lung function may help delineate the role of GER in IPF pathogenesis. This was a retrospective cohort study of IPF and COPD patients undergoing pre-lung transplant multichannel intraluminal impedance and pH study (MII-pH) off acid suppression at a tertiary center in 2008-2014. Patients with prior fundoplication were excluded. Baseline demographics, pulmonary function test, and MII-pH results were recorded. Univariate analyses were performed using Fisher's exact (binary variables) and Student's t (continuous variables) tests. Logistic regression was performed to adjust for potential confounders. A total of 90 subjects (54 IPF, 36 COPD) met inclusion criteria. Compared to COPD, IPF patients had increased total reflux episodes (65.9 vs 46.1, p = 0.02), proximal reflux episodes (30.3 vs 20.3, p = 0.04), and prevalence of abnormal total reflux episodes (38.9% vs 16.7%, p = 0.02). On multivariate analyses, abnormal total reflux episodes (OR: 4.9, p = 0.05) and bolus reflux exposure time (OR: 4, p = 0.04) remained significantly associated with IPF. Abnormal reflux was significantly more prevalent among IPF patients after controlling for lung disease severity. Gastroesophageal reflux/microaspiration likely plays a role in fibrosis in IPF. A significant portion of IPF patients had increased non-acid reflux. Therapies aiming to prevent reflux of gastric contents may be more beneficial than antisecretory medications alone in these patients. © 2015 John Wiley & Sons Ltd.

  10. Is impact of fatigue an independent factor associated with physical activity in patients with idiopathic Parkinson's disease?

    NARCIS (Netherlands)

    Elbers, R.; Wegen, van E.E.H.; Rochester, L.; Hetherington, V.; Nieuwboer, A.; Willems, A.M.; Jones, D.; Kwakkel, G.

    2009-01-01

    To investigate the longitudinal association between fatigue and physical activity in Parkinson's disease (PD) and determine whether this association is distorted by potential confounders. Data from baseline, 3, 6, and 12 week assessments in a single blind randomized clinical trial with cross-over

  11. Does the declining prevalence of Helicobacter pylori unmask patients with idiopathic peptic ulcer disease? Trends over an 8 year period

    NARCIS (Netherlands)

    Arents, NLA; Thijs, JC; van Zwet, AA; Kleibeuker, JH

    Objectives Recent studies have suggested that the prevalence of Helicobacter pylori infection in patients with ulcer disease who were not using non-steroidal anti-inflammatory drugs (NSAIDs) has been overestimated. The decreasing prevalence of H. pylori could lead to a relative increase in the

  12. Adolescent Idiopathic Scoliosis

    Science.gov (United States)

    ... Radiation Exposure in Scoliosis Kyphosis Adolescent Back Pain Spondylolysis For Adolescents For Adults Common Questions & Glossary Resources ... Radiation Exposure in Scoliosis Kyphosis Adolescent Back Pain Spondylolysis For Adolescents For Adults Juvenile Idiopathic Scoliosis Diagnosed ...

  13. Understanding idiopathic intracranial hypertension

    DEFF Research Database (Denmark)

    Markey, Keira A; Mollan, Susan P; Jensen, Rigmor H

    2016-01-01

    Idiopathic intracranial hypertension is a disorder characterised by raised intracranial pressure that predominantly affects young, obese women. Pathogenesis has not been fully elucidated, but several causal factors have been proposed. Symptoms can include headaches, visual loss, pulsatile tinnitus...

  14. Obesity is a significant susceptibility factor for idiopathic AA amyloidosis.

    Science.gov (United States)

    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.

  15. Acute kidney injury in idiopathic nephrotic syndrome of childhood is a major risk factor for the development of chronic kidney disease.

    Science.gov (United States)

    Yaseen, Afshan; Tresa, Vina; Lanewala, Ali Asghar; Hashmi, Seema; Ali, Irshad; Khatri, Sabeeta; Mubarak, Muhammed

    2017-11-01

    Acute kidney injury (AKI) is an important complication of idiopathic nephrotic syndrome (INS) and is associated with adverse outcomes, especially the development of chronic kidney disease (CKD). We aimed to determine the clinical profile of children with INS who developed AKI and its short-term outcome. This prospective study was conducted from March 2014 to October 2015. A total of 119 children of INS (age: 2-18 years) fulfilling the pediatric RIFLE criteria for the diagnosis of AKI were enrolled and followed up for 3 months to determine the outcome. Factors predisposing to CKD were studied. The mean age at presentation was 8.8 ± 3.59 years and males were 74 (62.2%). At presentation, 61 (51.3%) children were in Risk category, 43 (36.1%) in Injury category, and 15 (12.6%) in Failure category. Most of them (41.2%) had steroid-resistant nephrotic syndrome (SRNS) and focal segmental glomerulosclerosis (FSGS) on histopathology (33.6%). Infections were the major predisposing factor for AKI in 67 (56.3%) cases. Drug toxicity was the next common, found in 52 (43.7%) children. A total of 65 (54.6%) children recovered from AKI, while 54 (45.4%) did not. CKD developed in 49 (41.2%) non-recovered cases and 5 (4.2%) children succumbed to acute illness. SRNS, cyclosporine use, FSGS on histology, and drug toxicity were significant factors associated with the development of CKD. AKI associated with INS is a reversible condition in most cases but it can progress to CKD, especially among those who have SRNS, FSGS, and drug toxicity.

  16. Evaluation of Basal Serum Adrenocorticotropic Hormone and Cortisol Levels and Their Relationship with Nonalcoholic Fatty Liver Disease in Male Patients with Idiopathic Hypogonadotropic Hypogonadism.

    Science.gov (United States)

    Wang, Wen-Bo; She, Fei; Xie, Li-Fang; Yan, Wen-Hua; Ouyang, Jin-Zhi; Wang, Bao-An; Ma, Hang-Yun; Zang, Li; Mu, Yi-Ming

    2016-05-20

    Prolonged gonadal hormone deficiency in patients with idiopathic hypogonadotropic hypogonadism (IHH) may produce adverse effects on the endocrine homeostasis and metabolism. This study aimed to compare basal serum adrenocorticotropic hormone (ACTH) and cortisol levels between male IHH patients and healthy controls. Moreover, this study compared the basal hypothalamic-pituitary-adrenal (HPA) axis in patients with and without nonalcoholic fatty liver disease (NAFLD), and also evaluated the relationship between basal HPA axis and NAFLD in male IHH patients. This was a retrospective case-control study involving 75 Chinese male IHH patients (mean age 21.4 ± 3.8 years, range 17-30 years) and 135 healthy controls after matching for gender and age. All subjects underwent physical examination and blood testing for serum testosterone, luteinizing hormone, follicle-stimulating hormone, ACTH, and cortisol and biochemical tests. Higher basal serum ACTH levels (8.25 ± 3.78 pmol/L vs. 6.97 ± 2.81 pmol/L) and lower cortisol levels (366.70 ± 142.48 nmol/L vs. 452.82 ± 141.53 nmol/L) were observed in male IHH patients than healthy subjects (all pIHH patients also showed higher metabolism parameters and higher prevalence rate of NAFLD (34.9% vs. 4.4%) than the controls (all P IHH patients with NAFLD than those without NAFLD (all P IHH patients. Furthermore, NAFLD was independently associated with ACTH levels in male IHH patients by multiple linear regression analysis. The male IHH patients showed higher basal serum ACTH levels and lower cortisol levels than matched healthy controls. NAFLD was an independent associated factor for ACTH levels in male IHH patients. These preliminary findings provided evidence of the relationship between basal serum ACTH and NAFLD in male IHH patients.

  17. Pulmonary arterial capacitance in children with idiopathic pulmonary arterial hypertension and pulmonary arterial hypertension associated with congenital heart disease: relation to pulmonary vascular resistance, exercise capacity, and survival.

    Science.gov (United States)

    Sajan, Imran; Manlhiot, Cedric; Reyes, Janette; McCrindle, Brian W; Humpl, Tilman; Friedberg, Mark K

    2011-09-01

    Pediatric pulmonary arterial hypertension (PAH), whether idiopathic PAH (iPAH) or PAH associated with congenital heart disease (aPAH), carries high morbidity and mortality. Low pulmonary arterial capacitance (PAC), defined as right ventricular stroke volume/pulmonary artery pulse pressure, is a risk factor for mortality in adults with PAH. However, the relation of PAC to pulmonary vascular resistance (PVR), exercise endurance, and survival is poorly defined in children. Catheterization and clinical data of children with PAH (mean pulmonary artery pressure >25 mm Hg) were reviewed. Children with pulmonary shunts, stents, collaterals, or pulmonary venous hypertension were excluded. Primary outcomes were 6-minute walk distance and freedom from death/lung transplant. Forty-seven patients were studied. Nineteen (43%) had iPAH, and 28 (57%) had aPAH (7.1 ± 6.2 vs 8.4 ± 5.5 years, P = .45). Patients with iPAH had higher PVR indexed for body surface area (PVRi), lower indexed PAC (PACi), lower exercise tolerance, and lower freedom from death/lung transplant than patients with aPAH. Both higher PVRi (P 1.25 mL/mm Hg per square meter and a PVRi >13 Wood units × m(2) were associated with decreased freedom from death or lung transplant. The relationships between PVRi and PACi and survival were independent of each other and not confounded by etiologic group. Low PACi and high PVRi are independently associated with low 6-minute walk distance and survival in children with PAH. Therefore, both should be assessed for better prognostication and management in this high-risk population. Copyright © 2011 Mosby, Inc. All rights reserved.

  18. Upper midbrain profile sign and cingulate sulcus sign. MRI findings on sagittal images in idiopathic normal-pressure hydrocephalus, Alzheimer's disease, and progressive supranuclear palsy

    International Nuclear Information System (INIS)

    Adachi, Michito; Ohshima, Fumi; Kawanami, Toru; Kato, Takeo

    2006-01-01

    On magnetic resonance imaging (MRI) sagittal sections, we sometimes encounter abnormal aspects of the superior profile of the midbrain and the cingulate sulcus in patients with dementia. In this preliminary study, we refer to these findings as the ''upper midbrain profile sign'' and the cingulate sulcus sign.'' We prospectively evaluated the usefulness of these signs for the diagnosis of idiopathic normal-pressure hydrocephalus (iNPH), Alzheimer's disease (AD) and progressive supranuclear palsy (PSP). We evaluated the upper midbrain profile sign and the cingulate sulcus sign on MRI sagittal images obtained from 21 people with headaches but no neurological deficit (controls), 10 iNPH patients, 11 AD patients, and 5 PSP patients. The upper midbrain profile sign indicated a concave shape to the superior profile of the midbrain on mid-sagittal images, and the cingulate sulcus sign indicated a narrow, tight aspect of the posterior part of the cingulate sulcus on paramedian-sagittal images. These signs were never seen in any images from the controls. The upper midbrain profile sign was seen in 7 of 10 patients with iNPH, 5 of 11 with AD, and 3 of 5 with PSP. The cingulate sulcus sign was seen in all 10 patients with iNPH but was never seen in any patient with AD or PSP. The upper midbrain profile sign could support a diagnosis of PSP but cannot discriminate among iNPH, AD, and PSP. In contrast, the cingulate sulcus sign has a very high sensitivity for iNPH and should facilitate the distinction of iNPH from other dementias. In the clinical setting, it is momentous to evaluate these signs easily by one simple MRI sequence. (author)

  19. Variants in TNFAIP3, STAT4 and c12orf30 loci associated with multiple auto-immune diseases are also associated with Juvenile Idiopathic Arthritis

    Science.gov (United States)

    Prahalad, Sampath; Hansen, Sterling; Whiting, April; Guthery, Stephen L.; Clifford, Bronte; McNally, Bernadette; Zeft, Andrew S.; Bohnsack, John F.; Jorde, Lynn B.

    2010-01-01

    Objectives Subtypes of juvenile idiopathic arthritis (JIA) share phenotypic features with other autoimmune disorders. We investigated several genetic variants associated with rheumatoid arthritis (RA) and other autoimmune disorders for association with JIA, to test the hypothesis that clinically distinct phenotypes share common genetic susceptibility factors. Methods Cases were 445 children with JIA, and controls were 643 healthy adults. Eight single nucleotide polymorphisms (SNPs) in 7 loci [TNFAIP3 (rs10499194 and rs6920220), RSBN1 (rs6679677), C12ORF30 (rs17696736), TRAF1 (rs3761847), IL2RA (rs2104286), PTPN2 (rs2542151), and STAT4 (rs7574865)] were genotyped by the TaqMan assay. Alleles and genotypes were analyzed for association with JIA and JIA subtypes. Odds ratios (OR) and 95% confidence intervals (95% CI) were calculated. Results The strongest associations were observed for TNFAIP3 variants rs10499194 (OR: 0.74 (0.61-0.91); p <0.004), and TNFAIP3 rs6920220 (OR: 1.3 (1.05-1.61); p <0.02). We also observed associations between JIA and STAT4 (OR: 1.24 (1.02-1.51); p <0.03) and C12ORF30 (OR: 1.2 (1.01-1.43); p <0.04) variants. The PTPN2 variant rs2542151 deviated from Hardy-Weinberg equilibrium and was excluded from analyses. Variants in IL2RA, TRAF1, and RSBN1 were not associated with JIA. After stratification by JIA subtype, TNFAIP3 and C12ORF30 variants were associated with oligoarticular JIA, while the STAT4 variant was associated primarily with polyarticular JIA. Conclusions We have demonstrated associations between JIA and variants in TNFAIP3, STAT4 and C12ORF30 regions that have previously shown associations with other autoimmune diseases, including RA and systemic lupus erythematosus. Our results suggest that clinically distinct autoimmune phenotypes share common genetic susceptibility factors. PMID:19565500

  20. A Selective Corrective Exercise to Decrease Falling and Improve Functional Balance in Idiopathic Parkinson?s Disease

    OpenAIRE

    Sedaghati, Parisa; Daneshmandi, Hassan; Karimi, Noureddin; Barati, Amir-Hossein

    2016-01-01

    Background Posture instability and unsteady gait disorders in Parkinson’s Disease (PD) usually contribute to fall-related fractures. Fall-related trauma in PD is the most common reason for injury. Despite providing modern care for PD patients (PP) in the recent years, anti-PD drugs have no effect on falling. There is an urgent need to administer exercise interventions to reduce falls and related injuries in the rehabilitation program of PP. Ob...

  1. Anatomically standardised {sup 99m}Tc-ECD brain perfusion SPET allows accurate differentiation between healthy volunteers, multiple system atrophy and idiopathic Parkinson's disease

    Energy Technology Data Exchange (ETDEWEB)

    Bosman, Tommy [Division of Nuclear Medicine, P7, Ghent University Hospital, De Pintelaan 185, 9000 Ghent (Belgium); Van Laere, Koen [Department of Nuclear Medicine, Leuven University Hospital, Herestraat 49, 3000 Leuven (Belgium); Santens, Patrick [Department of Neurology, Ghent University Hospital, Ghent (Belgium)

    2003-01-01

    The clinical differentiation between typical idiopathic Parkinson's disease (IPD) and atypical parkinsonian disorders such as multiple system atrophy (MSA) is complicated by the presence of signs and symptoms common to both forms. The goal of this study was to re-evaluate the contribution of brain perfusion single-photon emission tomography (SPET) with anatomical standardisation and automated analysis in the differentiation of IPD and MSA. This was achieved by discriminant analysis in comparison with a large set of age- and gender-matched healthy volunteers. Technetium-99m ethyl cysteinate dimer SPET was performed on 140 subjects: 81 IPD patients (age 62.6{+-}10.2 years; disease duration 11.0{+-}6.4 years; 50 males/31 females), 15 MSA patients (61.5{+-}9.2 years; disease duration 3.0{+-}2.2 years; 9 males/6 females) and 44 age- and gender-matched healthy volunteers (age 59.2{+-}11.9 years; 27 males/17 females). Patients were matched for severity (Hoehn and Yahr stage). Automated predefined volume of interest (VOI) analysis was carried out after anatomical standardisation. Stepwise discriminant analysis with cross-validation using the leave-one-out method was used to determine the subgroup of variables giving the highest accuracy for this differential diagnosis. Between MSA and IPD, the only regions with highly significant differences in uptake after Bonferroni correction were the putamen VOIs. Comparing MSA versus normals and IPD, with putamen VOI values as discriminating variables, cross-validated performance showed correct classification of MSA patients with a sensitivity of 73.3%, a specificity of 84% and an accuracy of 83.6%. Additional input from the right caudate head and the left prefrontal and left mesial temporal cortex allowed 100% discrimination even after cross-validation. Discrimination between the IPD group alone and healthy volunteers was accurate in 94% of the cases after cross-validation, with a sensitivity of 91.4% and a specificity of 100

  2. Anatomically standardised 99mTc-ECD brain perfusion SPET allows accurate differentiation between healthy volunteers, multiple system atrophy and idiopathic Parkinson's disease

    International Nuclear Information System (INIS)

    Bosman, Tommy; Van Laere, Koen; Santens, Patrick

    2003-01-01

    The clinical differentiation between typical idiopathic Parkinson's disease (IPD) and atypical parkinsonian disorders such as multiple system atrophy (MSA) is complicated by the presence of signs and symptoms common to both forms. The goal of this study was to re-evaluate the contribution of brain perfusion single-photon emission tomography (SPET) with anatomical standardisation and automated analysis in the differentiation of IPD and MSA. This was achieved by discriminant analysis in comparison with a large set of age- and gender-matched healthy volunteers. Technetium-99m ethyl cysteinate dimer SPET was performed on 140 subjects: 81 IPD patients (age 62.6±10.2 years; disease duration 11.0±6.4 years; 50 males/31 females), 15 MSA patients (61.5±9.2 years; disease duration 3.0±2.2 years; 9 males/6 females) and 44 age- and gender-matched healthy volunteers (age 59.2±11.9 years; 27 males/17 females). Patients were matched for severity (Hoehn and Yahr stage). Automated predefined volume of interest (VOI) analysis was carried out after anatomical standardisation. Stepwise discriminant analysis with cross-validation using the leave-one-out method was used to determine the subgroup of variables giving the highest accuracy for this differential diagnosis. Between MSA and IPD, the only regions with highly significant differences in uptake after Bonferroni correction were the putamen VOIs. Comparing MSA versus normals and IPD, with putamen VOI values as discriminating variables, cross-validated performance showed correct classification of MSA patients with a sensitivity of 73.3%, a specificity of 84% and an accuracy of 83.6%. Additional input from the right caudate head and the left prefrontal and left mesial temporal cortex allowed 100% discrimination even after cross-validation. Discrimination between the IPD group alone and healthy volunteers was accurate in 94% of the cases after cross-validation, with a sensitivity of 91.4% and a specificity of 100%. The three

  3. Long term outcomes following achievement of clinically inactive disease in juvenile idiopathic arthritis: the importance of definition.

    Science.gov (United States)

    Shoop-Worrall, Stephanie Jw; Verstappen, Suzanne Mm; McDonagh, Janet E; Baildam, Eileen; Chieng, Alice; Davidson, Joyce; Foster, Helen; Ioannou, Yiannis; McErlane, Flora; Wedderburn, Lucy R; Thomson, W; Hyrich, Kimme L

    2018-04-12

    Potential targets for treat-to-target strategies in JIA are minimal disease activity (MDA) and clinically inactive disease (CID). Short and long-term outcomes following achievement of MDA and CID on the cJADAS10 and CID on Wallace's preliminary criteria were compared. Children recruited to the Childhood Arthritis Prospective Study, a UK multicentre inception cohort, were selected if recruited prior to January 2011 and diagnosed with oligoarthritis or rheumatoid factor negative or positive polyarthritis. At one year following diagnosis, children were assessed for MDA on the cJADAS10 and CID on both Wallace's preliminary criteria and the cJADAS10. Associations were tested between these disease states and i) functional ability, ii) absence of limited joints, iii) psychosocial health and v) pain at one year and annually to five years. Of 832 children, 70% were female and the majority had oligoarthritis (68%). At one year, 21% had achieved CID according to both definitions, 7% on Wallace's preliminary criteria only, 16% on cJADAS10 only and 56% on neither. Only 10% of children in the entire cohort achieved MDA without also having CID. Achieving either early CID state was associated with greater absence of limited joints. However, only CID on cJADAS10 was associated with improved functional ability and psychosocial health. Achieving CID was superior to MDA in terms of short and long-term pain and the absence of limited joints. CID on the cJADAS10 may be a preferable treatment target to CID on Wallace's preliminary criteria in terms of both feasibility of application and long-term outcomes. This article is protected by copyright. All rights reserved. This article is protected by copyright. All rights reserved.

  4. Ongoing disease activity and changing categories in a long-term nordic cohort study of juvenile idiopathic arthritis

    DEFF Research Database (Denmark)

    Nordal, Ellen; Zak, Marek; Aalto, Kristiina

    2011-01-01

    ), including biologic medications, were used in 58.0% of the children during the observation period. Ongoing disease activity was mostly mild, but 22.9% developed some JIA-related damage. At the last follow-up, remission off medication was found in 42.4% of the children, 8.9% were in remission on medication...... results underline the need to identify early predictors of outcome, to further improve therapy and to continue long-term follow-up of children with JIA....

  5. Idiopathic pulmonary fibrosis: evolving concepts.

    Science.gov (United States)

    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.

  6. Subtle learning and memory impairment in an idiopathic rat model of Alzheimer's disease utilizing cholinergic depletions and β-amyloid.

    Science.gov (United States)

    Deibel, S H; Weishaupt, N; Regis, A M; Hong, N S; Keeley, R J; Balog, R J; Bye, C M; Himmler, S M; Whitehead, S N; McDonald, R J

    2016-09-01

    Alzheimer's disease (AD) is a disease of complex etiology, involving multiple risk factors. When these risk factors are presented concomitantly, cognition and brain pathology are more severely compromised than if those risk factors were presented in isolation. Reduced cholinergic tone and elevated amyloid-beta (Aβ) load are pathological hallmarks of AD. The present study sought to investigate brain pathology and alterations in learning and memory when these two factors were presented together in rats. Rats received either sham surgeries, cholinergic depletions of the medial septum, intracerebroventricular Aβ25-35 injections, or both cholinergic depletion and Aβ25-35 injections (Aβ+ACh group). The Aβ+ACh rats were unimpaired in a striatal dependent visual discrimination task, but had impaired acquisition in the standard version of the Morris water task. However, these rats displayed normal Morris water task retention and no impairment in acquisition of a novel platform location during a single massed training session. Aβ+ACh rats did not have exacerbated brain pathology as indicated by activated astroglia, activated microglia, or accumulation of Aβ. These data suggest that cholinergic depletions and Aβ injections elicit subtle cognitive deficits when behavioural testing is conducted shortly after the presentation of these factors. These factors might have altered hippocampal synaptic plasticity and thus resemble early AD pathology. Copyright © 2016 Elsevier B.V. All rights reserved.

  7. Increased Motor Activity During REM Sleep Is Linked with Dopamine Function in Idiopathic REM Sleep Behavior Disorder and Parkinson Disease

    DEFF Research Database (Denmark)

    Zoetmulder, Marielle; Nikolic, Miki; Biernat, Heidi B

    2016-01-01

    STUDY OBJECTIVES: Rapid eye movement (REM) sleep behavior disorder (RBD) is a parasomnia characterized by impaired motor inhibition during REM sleep, and dream-enacting behavior. RBD is especially associated with α-synucleinopathies, such as Parkinson disease (PD). Follow-up studies have shown......-FP-CIT uptake in the putamen. In PD patients, EMG-activity was correlated to anti-Parkinson medication. CONCLUSIONS: Our results support the hypothesis that increased EMG-activity during REM sleep is at least partly linked to the nigrostriatal dopamine system in iRBD, and with dopamine function in PD....... the relation between this system and electromyographic (EMG) activity during sleep. The objective of this study was to investigate the relationship between the nigrostriatal dopamine system and muscle activity during sleep in iRBD and PD. METHODS: 10 iRBD patients, 10 PD patients with PD, 10 PD patients...

  8. Increased Motor Activity During REM Sleep Is Linked with Dopamine Function in Idiopathic REM Sleep Behaviour Disorder and Parkinson Disease

    DEFF Research Database (Denmark)

    Zoetmulder, Marielle; Nikolic, Miki; Biernat, Heidi

    2016-01-01

    STUDY OBJECTIVES: Rapid eye movement (REM) sleep behavior disorder (RBD) is a parasomnia characterized by impaired motor inhibition during REM sleep, and dream-enacting behavior. RBD is especially associated with α-synucleinopathies, such as Parkinson disease (PD). Follow-up studies have shown...... in the putamen. In PD patients, EMG-activity was correlated to anti-Parkinson medication. CONCLUSIONS: Our results support the hypothesis that increased EMG-activity during REM sleep is at least partly linked to the nigrostriatal dopamine system in iRBD, and with dopamine function in PD....... the relation between this system and electromyographic (EMG) activity during sleep. The objective of this study was to investigate the relationship between the nigrostriatal dopamine system and muscle activity during sleep in iRBD and PD. METHODS: 10 iRBD patients, 10 PD patients with PD, 10 PD patients...

  9. Biomarkers to identify ILD and predict lung function decline in scleroderma lung disease or idiopathic pulmonary fibrosis.

    Science.gov (United States)

    Kennedy, Barry; Branagan, Peter; Moloney, Fiachra; Haroon, Muhammad; O'Connell, Oisin J; O'Connor, Terence M; O'Regan, Kevin; Harney, Sinead; Henry, Michael T

    2015-09-14

    SSc-ILD and IPF demonstrate significant morbidity and mortality. Predicting disease progression is challenging in both diseases. We sought a serum biomarker that could identify patients with SSc-ILD or IPF and prospectively predict short-term decline in lung function in these patients. 10 healthy controls, 5 SSc w/o ILD, 6 SSc-ILD and 13 IPF patients underwent venesection. An array of cytokines including KL-6, SP-D and MMP7 were measured. PFTs were obtained at baseline and six months. Cytokine measurements were correlated with PFTs. KL-6 in IPF patients (633 ng/ml, IQR 492-1675) was significantly elevated compared to controls (198 ng/ml, IQR 52-360, p<0.01) and SSc w/o ILD patients (192 ng/ml, IQR 0-524, p<0.05); KL-6 in SSc-ILD patients (836 ng/ml, IQR 431-1303) was significantly higher than in controls (p<0.05). SP-D was significantly higher in IPF patients (542 ng/ml, IQR 305-577) compared to controls (137 ng/ml, IQR 97-284, p<0.01) or to SSc w/o ILD patients (169 ng/ml, IQR 137-219, p<0.05). In comparison with controls (0.0 ng/ml, IQR 0.0-0.6), MMP7 was significantly higher in both IPF patients (2.85 ng/ml, IQR 1.5-3.6, p<0.05) and SSc-ILD patients (5.41 ng/ml, IQR 2.6-7.2, p<0.001). Using a cut-off level of 459ng/ml for KL-6 and of 1.28 ng/ml for MMP7, 18 out of 19 patients with ILD had a serum value of either KL-6 or MMP7 above these thresholds. For all ILD patients, baseline serum SP-D correlated with ΔFVC %pred over six months (r=-0.63, p=0.005, 95% CI -0.85 to -0.24). Combining KL-6 with MMP7 may be a useful screening tool for patients at risk of ILD. SP-D may predict short-term decline in lung function.

  10. [Physiotherapy for juvenile idiopathic arthritis].

    Science.gov (United States)

    Spamer, M; Georgi, M; Häfner, R; Händel, H; König, M; Haas, J-P

    2012-07-01

    Control of disease activity and recovery of function are major issues in the treatment of children and adolescents suffering from juvenile idiopathic arthritis (JIA). Functional therapies including physiotherapy are important components in the multidisciplinary teamwork and each phase of the disease requires different strategies. While in the active phase of the disease pain alleviation is the main focus, the inactive phase requires strategies for improving motility and function. During remission the aim is to regain general fitness by sports activities. These phase adapted strategies must be individually designed and usually require a combination of different measures including physiotherapy, occupational therapy, massage as well as other physical procedures and sport therapy. There are only few controlled studies investigating the effectiveness of physical therapies in JIA and many strategies are derived from long-standing experience. New results from physiology and sport sciences have contributed to the development in recent years. This report summarizes the basics and main strategies of physical therapy in JIA.

  11. Idiopathic Inflammatory Myopathies: An update

    Directory of Open Access Journals (Sweden)

    Bulent KURT

    2016-06-01

    Full Text Available Idiopathic inflammatory myopathies (IIM are a heterogeneous group of disease with complex clinical features. It has been sub-classified as: (1 Dermatomyositis, (2 Polymyositis, and (3 Inclusion body myositis (IBM. Nowadays, there are some studies in literature suggest necrotizing autoimmune myopathy and immune-mediated necrotizing myopathy should also be added to this group of disease. There is a debate in the diagnosis of IIMs and up until now, about 12 criteria systems have been proposed. Some of the criteria systems have been used widely such as Griggs et al.'s proposal for IBM. Clinical findings, autoantibodies, enzymes, electrophysiological, and muscle biopsy findings are diagnostic tools. Because of diseases' complexity, none of the findings are diagnostic alone. In this study, we discussed the diagnostic criteria of IMMs and described detailed morphological features. [J Interdiscipl Histopathol 2016; 4(2.000: 41-45

  12. Relationship Between Plasma Homocystein Levels and Polyneuropaty in Patients Using Levodopa For Idiopathic Parkinson’s Disease

    Directory of Open Access Journals (Sweden)

    Mithat Bedir

    2012-06-01

    Full Text Available Objective: Recent studies showed high plasma homocysteine levels in patients treated with Levodopa for Parkinson’s disease (PD. Homocysteine, due to its exotoxic effect, might be the cause of polyneuropathy seen in PD. In this study, our aim was to show the correlation between high concentration of plasma homocysteine levels and polyneuropathy associated with PD.. Material and Methods: Forty-one patients with PD receiving levodopa treatment (patient group and 30 healthy subjects (control group were included in this study. We compared the two groups in terms of electrophysiological findings. Twelve patients had high plasma homocysteine levels and 29 of them had low plasma homocysteine levels. Results: Six of the 41 patients had sensorial polyneuropathy and decreased compound muscle action potantiel amplitude compared to controls. Two patients had high plasma homocysteine levels, two patients had nearly high plasma homocysteine levels, two patients had low plasma homocysteine levels who had sensorial polyneuropathy. Conclusion: Although in our study, we did not show any correlation between polyneuropathy and high plasma homocysteine levels, further studies including homogeneous groups of younger patients with PD are needed. (The Me di cal Bul - le tin of Ha se ki 2012; 50: 53-8

  13. Atherosclerosis in Juvenile Idiopathic Arthritis

    Directory of Open Access Journals (Sweden)

    Ewa Jednacz

    2012-01-01

    Full Text Available Atherosclerosis is a chronic inflammatory disease of the arteries. Clinical consequences of the atherosclerotic process occur in the adult population, however atherosclerotic process begins in childhood. The classic risk factors for atherosclerosis include obesity, dyslipidaemia, age, gender or family history. In recent years, attention has been drawn to the similarity between atherosclerotic inflammatory processes and inflammatory changes in the course of systemic connective tissue disease, in particular systemic lupus etythematosus (SLE or rheumatoid arthritis (RA. There is also observed the similarity of the pathogenetic background of development of atherosclerosis and juvenile idiopathic arthritis (JIA. Elevated levels of pro-inflammatory cytokines are observed in the course of juvenile idiopathic arthritis. Also homocysteine concentrations, which may play a significant role in the development of atherosclerotic lesions, are observed higher in patients with JIA. Some studies revealed higher carotid intima-media thickness (IMT index values in children with JIA. In view of the fact that atherosclerotic process begins as early as in childhood, the introduction of appropriate preventive measures in children is a matter of utmost importance.

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

    OpenAIRE

    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 ma...

  15. Hyperdynamic CSF motion profiles found in idiopathic normal pressure hydrocephalus and Alzheimer's disease assessed by fluid mechanics derived from magnetic resonance images.

    Science.gov (United States)

    Takizawa, Ken; Matsumae, Mitsunori; Hayashi, Naokazu; Hirayama, Akihiro; Yatsushiro, Satoshi; Kuroda, Kagayaki

    2017-10-18

    Magnetic resonance imaging (MRI) does not only ascertain morphological features, but also measures physiological properties such as fluid velocity or pressure gradient. The purpose of this study was to investigate cerebrospinal fluid (CSF) dynamics in patients with morphological abnormalities such as enlarged brain ventricles and subarachnoid spaces. We used a time-resolved three dimensional phase contrast (3D-PC) MRI technique to quantitatively evaluate CSF dynamics in the Sylvian aqueduct of healthy elderly individuals and patients with either idiopathic normal pressure hydrocephalus (iNPH) or Alzheimer's disease (AD) presenting with ventricular enlargement. Nineteen healthy elderly individuals, ten iNPH patients, and seven AD patients (all subjects ≥ 60 years old) were retrospectively evaluated 3D-PC MRI. The CSF velocity, pressure gradient, and rotation in the Sylvian aqueduct were quantified and compared between the three groups using Kolmogorov-Smirnov and Mann-Whitney U tests. There was no statistically significant difference in velocity among the three groups. The pressure gradient was not significantly different between the iNPH and AD groups, but was significantly different between the iNPH group and the healthy controls (p < 0.001), and similarly, between the AD group and the healthy controls (p < 0.001). Rotation was not significantly different between the iNPH and AD groups, but was significantly different between the iNPH group and healthy controls (p < 0.001), and similarly, between the AD group and the healthy controls (p < 0.001). Quantitative analysis of CSF dynamics with time resolved 3D-PC MRI revealed differences and similarities in the Sylvian aqueduct between healthy elderly individuals, iNPH patients, and AD patients. The results showed that CSF motion is in a hyperdynamic state in both iNPH and AD patient groups compared to healthy elderly individuals, and that iNPH patients and AD patients display similar CSF motion profiles.

  16. The Prevalence of Anti-Aquaporin 4 Antibody in Patients with Idiopathic Inflammatory Demyelinating Diseases Presented to a Tertiary Hospital in Malaysia: Presentation and Prognosis

    Directory of Open Access Journals (Sweden)

    S. Abdullah

    2017-01-01

    Full Text Available Background. There have been inconsistent reports on the prevalence and pathogenicity of anti-Aquaporin 4 (AQP4 in patients presented with idiopathic inflammatory demyelinating diseases (IIDDs. Objective. To estimate the prevalence of anti-AQP4 antibody in patients with IIDDs presented to University Malaya Medical Centre in terms of patients’ clinical and radiological presentations and prognoses. Methods. Retrospective data review of IIDDs patients presented from 2005 to 2015. Patients were classified into classical multiple sclerosis (CMS, opticospinal (OS presentation, optic neuritis (ON, transverse myelitis (TM, brainstem syndrome (BS, and tumefactive MS. Anti-Aquaporin 4 antibody was tested using the Indirect Immunofluorescence Test (IIFT cell-based assay. Statistical analysis was done using the SPSS version 20. Results. Anti-AQP4 antibody was detected in 53% of patients presented with IIDDs. CMS was more common in the seronegative group, 27/47 (57.45%; p<0.001. Conversely, OS involvement was more common in the seropositive group, 26/53 (49.06%; p<0.001. Longitudinally extensive spinal cord lesions (LESCLs on MRI were also more common in the seropositive group, 29/40 (72.50%; p=0.004. Only 2/40 (5.00% had MRI evidence of patchy or multiple short-segment spinal cord lesions in the AQP4-positive group (p=0.003. The relapse rate and Expanded Disability Status Scale (EDSS were also higher in the seropositive group (5.43 versus 3.17, p=0.005; 4.07 versus 2.51, p=0.006, resp.. Typical clinical presentations that defined NMO were also seen in the seronegative patients, but in a lower frequency. Conclusion. Our cohort of patients had a higher prevalence of seropositivity of anti-AQP4 antibody as compared to those in Western countries. This was also associated with a more typical presentation of opticospinal involvement with LESCLs on MRI, a higher rate of relapse, and EDSS.

  17. Pathogenesis of Idiopathic Pulmonary Fibrosis

    Science.gov (United States)

    Wolters, Paul J.; Collard, Harold R.; Jones, Kirk D.

    2014-01-01

    Idiopathic pulmonary fibrosis (IPF) is a fibrosing interstitial lung disease associated with aging that is characterized by the histopathological pattern of usual interstitial pneumonia. Although an understanding of the pathogenesis of IPF is incomplete, recent advances delineating specific clinical and pathologic features of IPF have led to better definition of the molecular pathways that are pathologically activated in the disease. In this review we highlight several of these advances, with a focus on genetic predisposition to IPF and how genetic changes, which occur primarily in epithelial cells, lead to activation of profibrotic pathways in epithelial cells. We then discuss the pathologic changes within IPF fibroblasts and the extracellular matrix, and we conclude with a summary of how these profibrotic pathways may be interrelated. PMID:24050627

  18. PATTERN OF INHERITANCE OF IDIOPATHIC HYPERCALCIURIA IN TWO FAMILIES

    Directory of Open Access Journals (Sweden)

    A. Nickavar

    2006-09-01

    Full Text Available Idiopathic hypercalciuria is a leading cause of frequency-dysuria syndrome in childhood. Different modes of inheritance have been suggested in this disease. This article presents the occurrence of idiopathic hypercalciuria in all children of two families. In the first family, a 5.5 year old girl with a history of renal stones and dysuria due to hypercalciuria, had two involved brothers and one sister. In the second family, hypercalciuria and medullary nephrocalcinosis were detected in two siblings who were admitted for polyuria and dysuria. Idiopathic type of hypercalciuria was diagnosed in these two families by normal laboratory exams and exclusion of other causes of normocalcemic hypercalciuria. According to the involvement of all offsprings (both sexes in these two families, it is suggested that idiopathic hypercalciuria is an autosomal dominant disease with complete penetration.

  19. Optimal management of idiopathic scoliosis in adolescence

    Directory of Open Access Journals (Sweden)

    Kotwicki T

    2013-07-01

    Full Text Available Tomasz Kotwicki,1 Joanna Chowanska,1,2 Edyta Kinel,3 Dariusz Czaprowski,4,5 Marek Tomaszewski,1 Piotr Janusz1 1Department of Pediatric Orthopedics, University of Medical Sciences, Poznan, Poland; 2National Scoliosis Foundation, Stoughton, MA, USA; 3Department of Rehabilitation, University of Medical Sciences, Poznan Poland; 4Department of Physiotherapy, Józef Rusiecki University College, Olsztyn, 5Rehasport Clinic, Poznan, Poland Abstract: 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

  20. A CASE OF IDIOPATHIC PULMONARY ARTERIAL HYPERTENSION IN MALE

    OpenAIRE

    Poongavanam Paranthaman; Ramani Bala Subra Manian; Thenrajan Balaji; Jayakrishnan Jayakumar; Govindaraj Ranjani

    2016-01-01

    Primary Pulmonary Hypertension is a rare disease occurring in 1-2 per million population. It is 2-4 times more common in female. Idiopathic or primary pulmonary hypertension is defined as a disorder with no identifiable cause in which resting mean pulmonary artery pressure in adults is above 25 mmHg and 30 mmHg with exercise. Idiopathic or primary pulmonary hypertension is diagnosed after ruling out all the possible secondary causes of pulmonary hypertension. We are presenting a ...

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

    Science.gov (United States)

    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.

  2. Hypercalcemia in idiopathic myelofibrosis

    DEFF Research Database (Denmark)

    Voss, A; Schmidt, K; Hasselbalch, H

    1992-01-01

    A case of idiopathic myelofibrosis (IMF) presenting with hypercalcemia and hypercalcitriolemia is reported. It is proposed that ectopic production of the active vitamin D metabolite related to ongoing clonal expansion in the bone marrow accounts for the hypercalcemic state. Consistently low level...

  3. Idiopathic scrotal elephantiasis.

    Science.gov (United States)

    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.

  4. Idiopathic central diabetes Insipidus.

    Science.gov (United States)

    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.

  5. Idiopathic epiretinal membrane

    NARCIS (Netherlands)

    Bu, Shao-Chong; Kuijer, Roelof; Li, Xiao-Rong; Hooymans, Johanna M M; Los, Leonoor I

    2014-01-01

    Background: Idiopathic epiretinal membrane (iERM) is a fibrocellular membrane that proliferates on the inner surface of the retina at the macular area. Membrane contraction is an important sight-threatening event and is due to fibrotic remodeling. Methods: Analysis of the current literature

  6. Exercise testing and fitness training in juvenile idiopathic arthritis

    NARCIS (Netherlands)

    Singh-Grewal, D.

    2010-01-01

    Juvenile Idiopathic Arthritis is the commonest rheumatic disease of childhood affecting 1:1000 children under the age of 16 years. Children with JIA have long been sidelined from physical activity due to active disease or irrational concerns that activity may in some way worsen disease. Children

  7. Juvenile idiopathic arthritis-associated uveitis

    OpenAIRE

    Clarke, Sarah; Sen, Ethan; Ramanan, Athimalaipet

    2016-01-01

    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 geneti...

  8. Genetics Home Reference: adolescent idiopathic scoliosis

    Science.gov (United States)

    ... Facebook Twitter Home Health Conditions Adolescent idiopathic scoliosis Adolescent idiopathic scoliosis Printable PDF Open All Close All ... Javascript to view the expand/collapse boxes. Description Adolescent idiopathic scoliosis is an abnormal curvature of the ...

  9. Optimal management of idiopathic scoliosis in adolescence

    Science.gov (United States)

    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

  10. Idiopathic gingival fibromatosis

    Directory of Open Access Journals (Sweden)

    Sujata Rath

    2011-01-01

    This article presents a case report of a 14-year-old female patient with idiopathic gingival fibromatosis in the maxillary region with radiographic feature of congenitally missing maxillary permanent left lateral incisor, maxillary left and right permanent canine, mandibular right second premolar, all third molars along with overretained primary maxillary left lateral incisor and primary mandibular second molar. The treatment rendered in this patient comprised of surgical excision of the hyperplasia under general anesthesia.

  11. Acute Idiopathic Scrotal Edema

    Directory of Open Access Journals (Sweden)

    Micheál Breen

    2013-01-01

    Full Text Available We report a case of acute idiopathic scrotal edema (AISE in a 4-year-old boy who presented with acute scrotal pain and erythema. The clinical features, ultrasound appearance, and natural history of this rare diagnosis are reviewed. In this report, we highlight the importance of good ultrasound technique in differentiating the etiology of the acute scrotum and demonstrate the color Doppler “Fountain Sign” that is highly suggestive of AISE.

  12. Idiopathic retroperitoneal fibrosis involving a unilateral renal sinus: A case report and literature review

    International Nuclear Information System (INIS)

    Lee, Seul Bi; Yoon, Jung Hee; Kim, Seung Ho; Lee, Ye Daum; Kim, Suk Jung; Lim, Yun Jung; Jung, Hyun Kyung; Lee, Jin Soo

    2016-01-01

    Idiopathic retroperitoneal fibrosis (RPF) is a rare disease entity and its etiology is uncertain. We report two similar cases which showed an uncommon presentation of idiopathic RPF. A 66-year-old woman and an 80-year-old man presented with incidental findings of left renal pelvic mass-like lesions. Computed tomography revealed a soft tissue density mass replacing the left renal pelvis, which was suspicious for renal pelvic cancer, and the diagnosis of idiopathic RPF was surgically confirmed. To the best of our knowledge, a few cases of idiopathic RPF presenting with features of a localized unilateral renal pelvic mass mimicking renal pelvic cancer have been reported

  13. Idiopathic retroperitoneal fibrosis involving a unilateral renal sinus: A case report and literature review

    Energy Technology Data Exchange (ETDEWEB)

    Lee, Seul Bi; Yoon, Jung Hee; Kim, Seung Ho; Lee, Ye Daum; Kim, Suk Jung; Lim, Yun Jung; Jung, Hyun Kyung; Lee, Jin Soo [Dept. of Radiology, Haeundae Paik Hospital, Inje University College of Medicine, Busan (Korea, Republic of)

    2016-06-15

    Idiopathic retroperitoneal fibrosis (RPF) is a rare disease entity and its etiology is uncertain. We report two similar cases which showed an uncommon presentation of idiopathic RPF. A 66-year-old woman and an 80-year-old man presented with incidental findings of left renal pelvic mass-like lesions. Computed tomography revealed a soft tissue density mass replacing the left renal pelvis, which was suspicious for renal pelvic cancer, and the diagnosis of idiopathic RPF was surgically confirmed. To the best of our knowledge, a few cases of idiopathic RPF presenting with features of a localized unilateral renal pelvic mass mimicking renal pelvic cancer have been reported.

  14. Safety and Efficacy Study of VY-AADC01 for Advanced Parkinson's Disease

    Science.gov (United States)

    2018-02-27

    Idiopathic Parkinson's Disease; Parkinson's Disease; Basal Ganglia Disease; Brain Diseases; Central Nervous System Diseases; Movement Disorders; Nervous System Diseases; Neurodegenerative Diseases; Parkinsonian Disorders

  15. Pulmonary function in children with idiopathic scoliosis

    Directory of Open Access Journals (Sweden)

    Tsiligiannis Theofanis

    2012-03-01

    Full Text Available Abstract Idiopathic scoliosis, a common disorder of lateral displacement and rotation of vertebral bodies during periods of rapid somatic growth, has many effects on respiratory function. Scoliosis results in a restrictive lung disease with a multifactorial decrease in lung volumes, displaces the intrathoracic organs, impedes on the movement of ribs and affects the mechanics of the respiratory muscles. Scoliosis decreases the chest wall as well as the lung compliance and results in increased work of breathing at rest, during exercise and sleep. Pulmonary hypertension and respiratory failure may develop in severe disease. In this review the epidemiological and anatomical aspects of idiopathic scoliosis are noted, the pathophysiology and effects of idiopathic scoliosis on respiratory function are described, the pulmonary function testing including lung volumes, respiratory flow rates and airway resistance, chest wall movements, regional ventilation and perfusion, blood gases, response to exercise and sleep studies are presented. Preoperative pulmonary function testing required, as well as the effects of various surgical approaches on respiratory function are also discussed.

  16. Idiopathic noncirrhotic portal hypertension: current perspectives.

    Science.gov (United States)

    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.

  17. Giant scrotal elephantiasis: an idiopathic case.

    Science.gov (United States)

    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.

  18. A case of idiopathic omental hemorrhage

    Directory of Open Access Journals (Sweden)

    Toshimitsu Hosotani

    2016-05-01

    Full Text Available With the exception of trauma, intraperitoneal hemorrhage in young women is caused by the high frequency of ectopic pregnancy and ovarian bleeding. Here, we describe a case of idiopathic omental hemorrhage, which is a rare cause of intraperitoneal hemorrhage. Intraperitoneal hemorrhage was suspected in a 38-year-old Japanese woman based on contrast-enhanced computed tomography. Her last menstrual period was 23 days prior, and ovarian bleeding was considered based on bloody ascites revealed by culdocentesis. She underwent emergency surgery for hypovolemic shock. Although both ovaries were of normal size and no abnormal findings were observed, we performed a partial omentectomy because multiple clots were attached only to the greater omentum. Postoperatively, no rebleeding occurred, and she was discharged 11 days after the surgery. Because she did not have a clear history of trauma and underlying disease, idiopathic omental hemorrhage was diagnosed.

  19. Impact of juvenile idiopathic arthritis on schooling

    Directory of Open Access Journals (Sweden)

    Bouaddi Ilham

    2013-01-01

    Full Text Available Abstract Background Juvenile idiopathic arthritis (JIA is the most common arthropathy of childhood. Different diseases affect school attendance to varying degrees. The aim of this study was to assess the impact of juvenile idiopathic arthritis (JIA on Moroccan children’s schooling. Methods Thirty-three children with JIA were included in this study, having been previously diagnosed according to the classification criteria of the International League of Associations for Rheumatology (ILAR. Seventy-four healthy children were recruited to serve as controls. Data was obtained for all children on their school level, educational performance, and attendance. The rate of absenteeism due to health complications was noted. Results All healthy children were able to attend school (p Conclusions Our study suggested that the schooling of children with JIA was negatively impacted due to the disorder. More studies, with a larger sample of children, are needed to confirm our findings.

  20. Idiopathic non-cirrhotic portal hypertension: a review

    NARCIS (Netherlands)

    Schouten, Jeoffrey N. L.; Verheij, Joanne; Seijo, Susana

    2015-01-01

    Idiopathic non-cirrhotic portal hypertension (INCPH) is a rare disease characterized of intrahepatic portal hypertension in the absence of cirrhosis or other causes of liver disease and splanchnic venous thrombosis. The etiology of INCPH can be classified in five categories: 1) immunological

  1. Lysyl oxidases regulate fibrillar collagen remodelling in idiopathic pulmonary fibrosis

    NARCIS (Netherlands)

    Tjin, Gavin; White, Eric S; Faiz, Alen; Sicard, Delphine; Tschumperlin, Daniel J; Mahar, Annabelle; Kable, Eleanor P W; Burgess, Janette K

    2017-01-01

    Idiopathic pulmonary fibrosis (IPF) is a progressive scarring disease of the lung with feweffective therapeutic options. Structural remodelling of the extracellular matrix [i.e. collagen cross-linkingmediated by the lysyl oxidase (LO) family of enzymes (LOX, LOXL1-4)] might contribute to disease

  2. Idiopathic Intracranial Hypertension (Pseudotumor Cerebri)

    Science.gov (United States)

    ... cause is determined and is referred to as “secondary” intracranial hypertension. What are the risk factors for idiopathic intracranial ... clotting disorders, anemia and malnutrition. Can idiopathic intracranial ... to be “secondary” which affects males and females equally. The second ...

  3. Co-segregation of Norrie disease and idiopathic pulmonary hypertension in a family with a microdeletion of the NDP region at Xp11.3-p11.4.

    Science.gov (United States)

    Staropoli, John F; Xin, Winnie; Sims, Katherine B

    2010-11-01

    Norrie disease is a rare X-linked congenital retinal vasculopathy that may be accompanied by sensorineural deafness, mental retardation, and other neurological deficits. Here we present a family in which Norrie disease co-segregated with either early-onset idiopathic pulmonary hypertension or sudden death preceded by a period of progressive dyspnea. Neither Norrie disease, nor its atypical variants described to date, have been associated with this extended clinical phenotype. Molecular analysis of the Norrie disease gene (NDP) and adjacent loci was performed by multiplex ligation-dependent probe amplification and comparative genomic hybridisation. Affected males in this family showed an inherited hemizygous deletion restricted to NDP and two immediately telomeric genes, monoamine oxidase-B (MAO-B) and monoamine oxidase-A (MAO-A), which encode closely related enzymes that metabolize biogenic amines including serotonin, dopamine, and norepinephrine. Sequencing of the deletion junction showed an unusual pattern in which a region of microhomology flanked intervening genomic sequence. Because abnormalities of biogenic amines, particularly serotonin, have been implicated in the pathophysiology of pulmonary hypertension, we propose that presumed MAO deficiency in these patients may represent a novel risk factor for pulmonary hypertension, particularly forms with very early onset. Fine-mapping of other microdeletions at this locus may provide insights into additional mechanisms for nonrecurrent genomic rearrangements at this and other chromosomal loci.

  4. Idiopathic facial pain related with dental implantation

    Directory of Open Access Journals (Sweden)

    Tae-Geon Kwon

    2016-06-01

    Full Text Available Chronic pain after dental implantation is rare but difficult issue for the implant practitioner. Patients with chronic pain who had been performed previous implant surgery or related surgical intervention sometimes accompany with psychological problem and difficult to adequately manage. According to the International Classification of Headache Disorders (ICHD 3rd eds, Cepalagia 2013, painful neuropathies and other facial pains are subdivided into the 12 subcategories; 13.1. Trigeminal neuralgia; 13.2 Glossopharyngeal neuralgia; 13.3 Nervus intermedius (facial nerve neuralgia; 13.4 Occipital neuralgia; 13.5 Optic neuritis; 13.6 Headache attributed to ischaemic ocular motor nerve palsy; 13.7 Tolosa-Hunt syndrome; 13.8 Paratrigeminal oculo-sympathetic (Raeder’s syndrome; 13.9 Recurrent painful ophthalmoplegic neuropathy; 13.10 Burning Mouth Syndrome (BMS; 13.11 Persistent Idiopathic Facial Pain (PIFP; 13.12 Central neuropathic pain. Chronic orofacial pain after dental implant surgery can be largely into the two main categories that can be frequently encountered in clinical basis ; 1 Neuropathic pain, 2 Idiopathic pain. If there is no direct evidence of the nerve injury related with the implant surgery, the clinician need to consider the central cause of pain instead of the peripheral cause of the pain. There might be several possibilities; 1 Anaesthesia dolorosa, 2 Central post-stroke pain, 3 Facial pain attributed to multiple sclerosis, 4 Persistent idiopathic facial pain (PIFP, 5 Burning mouth syndrome. In this presentation, Persistent idiopathic facial pain (PIFP, the disease entity that can be frequently encountered in the clinic would be discussed. Persistent idiopathic facial pain (PIFP can be defined as “persistent facial and/or oral pain, with varying presentations but recurring daily for more than 2 hours per day over more than 3 months, in the absence of clinical neurological deficit”. ‘Atypical’ pain is a diagnosis of

  5. Idiopathic Pulmonary Fibrosis: Diagnosis and Clinical Manifestations

    Science.gov (United States)

    Nakamura, Yutaro; Suda, Takafumi

    2015-01-01

    Idiopathic pulmonary fibrosis (IPF) is a parenchymal lung disease characterized by progressive interstitial fibrosis. The clinical course of IPF can be unpredictable and may be punctuated by acute exacerbations. Although much progress is being made in unraveling the mechanisms underlying IPF, effective therapy for improving survival remains elusive. Longitudinal disease profiling, especially in terms of clinical manifestations in a large cohort of patients, should lead to proper management of the patients and development of new treatments for IPF. Appropriate multidisciplinary assessment in ongoing registries is required to achieve this. This review summarizes the current status of the diagnosis and clinical manifestations of IPF. PMID:27625576

  6. Idiopathic granulomatous lobular mastitis.

    Science.gov (United States)

    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.

  7. Idiopathic intracranial hypertension

    DEFF Research Database (Denmark)

    Yri, Hanne M; Jensen, Rigmor H

    2015-01-01

    AIMS: The aims of this article are to characterize the headache in idiopathic intracranial hypertension (IIH) and to field-test the ICHD diagnostic criteria for headache attributed to IIH. MATERIALS AND METHODS: We included 44 patients with new-onset IIH. Thirty-four patients with suspected but u...... tinnitus may suggest intracranial hypertension. Based on data from a well-defined IIH cohort, we propose a revision of the ICDH-3 beta diagnostic criteria with improved clinical applicability and increased sensitivity and specificity....

  8. Managing comorbidities in idiopathic pulmonary fibrosis

    Science.gov (United States)

    Fulton, Blair G; Ryerson, Christopher J

    2015-01-01

    Major risk factors for idiopathic pulmonary fibrosis (IPF) include older age and a history of smoking, which predispose to several pulmonary and extra-pulmonary diseases. IPF can be associated with additional comorbidities through other mechanisms as either a cause or a consequence of these diseases. We review the literature regarding the management of common pulmonary and extra-pulmonary comorbidities, including chronic obstructive pulmonary disease, lung cancer, pulmonary hypertension, venous thromboembolism, sleep-disordered breathing, gastroesophageal reflux disease, coronary artery disease, depression and anxiety, and deconditioning. Recent studies have provided some guidance on the management of these diseases in IPF; however, most treatment recommendations are extrapolated from studies of non-IPF patients. Additional studies are required to more accurately determine the clinical features of these comorbidities in patients with IPF and to evaluate conventional treatments and management strategies that are beneficial in non-IPF populations. PMID:26451121

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

    OpenAIRE

    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 ...

  10. Glymphatic MRI in idiopathic normal pressure hydrocephalus.

    Science.gov (United States)

    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

  11. Cognitive function assessment in idiopathic Parkinson's disease Avaliação da função cognitiva em doença de Parkinson idiopática

    Directory of Open Access Journals (Sweden)

    Mauro R. Piovezan

    2007-12-01

    Full Text Available Idiopathic Parkinson’s disease (PD is characterized by reduced nigrostriatal and cortical dopaminergic influence, with changes in movement and, subsequently, behavioral and cognitive disturbances. We studied cognitive impairment in Parkinson’s disease by assessing a group of 30 idiopathic Parkinson’s disease patients with an average age of 64.23 years (PG group and compared our findings with those for a control group of 30 patients (CG group. All the patients were submitted to the following assessments: motor function, using the UPDRS; staging, using the Hoehn-Yahr scales (PG group only; depression, using the Montgomery-Asberg scale; attention impairment; verbal fluency (FAR and animals; cognitive function, using the Mini Mental State Examination; visuospatial and executive functions; and clock drawing. In addition to altered motor function in PD patients, we found statistically significant differences between PD patients and controls in terms of cognitive function, verbal, executive and visuospatial functions, and attention deficits. Depression was more prevalent in the PG group.A doença de Parkinson idiopática (DP caracteriza-se pela redução da influência dopaminérgica nigroestriatal e cortical, com alterações em movimentos e posteriormente, comportamentais e cognitivas. Estudamos o comprometimento cognitivo de pacientes portadores de DP, avaliando 30 pacientes com doença de Parkinson idiopática (GP com média de idade de 64,23 anos e os comparamos com um grupo controle (GC de 30 pacientes. Todos os pacientes foram submetidos as seguintes avaliações: motora pela escala de UPDRS; estadiamento pela escala de Hoehn-Yahr (somente GP; depressão pela escala de Montgomery-Asberg; comprometimento da atenção; fluência verbal (FAR e animais; função cognitiva pelo Mini Exame do Estado Mental; funções visuoespaciais e executivas e desenho do relógio. Concluímos que na DP os pacientes apresentam além das alterações motoras

  12. Idiopathic Bilateral Bloody Tearing

    Directory of Open Access Journals (Sweden)

    Emrullah Beyazyıldız

    2015-01-01

    Full Text Available Bloody tear is a rare and distinct clinic phenomenon. We report a case presenting with the complaint of recurrent episodes of bilateral bloody tearing. A 16-year-old girl presented to our clinic with complaint of bloody tearing in both eyes for 3 months. Bloody tearing was not associated with her menses. A blood-stained discharge from the punctum was not observed during the compression of both nasolacrimal ducts. Nasolacrimal passage was not obstructed. Imaging studies such as dacryocystography and gradient-echo magnetic resonance imaging (MRI of nasolacrimal canal were normal. Intranasal endoscopic evaluation was normal. We collected samples from bloody tears two times and pathological examination was performed. Pathological analysis showed lots of squamous cells and no endometrial cells; dysplastic cells were found. Further evaluations for underlying causes were unremarkable. No abnormalities were found in ophthalmologic, radiologic, and pathologic investigations. This condition is likely a rare abnormality and the least recognized aetiology for the idiopathic phenomenon.

  13. Idiopathic thrombocytopenic purpura

    Directory of Open Access Journals (Sweden)

    L Kayal

    2014-01-01

    Full Text Available Idiopathic thrombocytopenic purpura (ITP is defined as a hematologic disorder, characterized by isolated thrombocytopenia without a clinically apparent cause. The major causes of accelerated platelet consumption include immune thrombocytopenia, decreased bone marrow production, and increased splenic sequestration. The clinical presentation may be acute with severe bleeding, or insidious with slow development with mild or no symptoms. The initial laboratory tests useful at the first visit to predict future diagnosis were erythrocyte count, leukocyte count, anti-glycoprotein IIb/IIIa antibodies, reticulated platelets, plasma thrombopoietin level. Treatment should be restricted to those patients with moderate or severe thrombocytopenia who are bleeding or at risk of bleeding. We present a case report on ITP with clinical presentation, diagnosis and management.

  14. Persistent idiopathic facial pain

    DEFF Research Database (Denmark)

    Maarbjerg, Stine; Wolfram, Frauke; Heinskou, Tone Bruvik

    2017-01-01

    Introduction: Persistent idiopathic facial pain (PIFP) is a poorly understood chronic orofacial pain disorder and a differential diagnosis to trigeminal neuralgia. To address the lack of systematic studies in PIFP we here report clinical characteristics and neuroimaging findings in PIFP. Methods...... pain 7 (13%), hypoesthesia 23 (48%), depression 16 (30%) and other chronic pain conditions 17 (32%) and a low prevalence of stabbing pain 21 (40%), touch-evoked pain 14 (26%) and remission periods 10 (19%). The odds ratio between neurovascular contact and the painful side was 1.4 (95% Cl 0.4–4.4, p = 0.......565) and the odds ratio between neurovascular contact with displacement of the trigeminal nerve and the painful side was 0.2 (95% Cl 0.0–2.1, p = 0.195). Conclusion: PIFP is separated from trigeminal neuralgia both with respect to the clinical characteristics and neuroimaging findings, as NVC was not associated...

  15. ADHD in idiopathic epilepsy

    Directory of Open Access Journals (Sweden)

    Marcos H. C. Duran

    2014-01-01

    Full Text Available Our aim was to clarify the correlation of attention deficit hyperactivity disorder (ADHD with epilepsy and behavior problems. This was a cross-sectional study. Sixty children with idiopathic epilepsy were interviewed using the MTA-SNAP IV Teacher and Parent Rating Scale, Vineland Adaptive Behavior Scales and Conners’ Rating Scales. We used the chi-square test to analyze the correlation of epilepsy variables in patients with and without ADHD with a significance level of 0.05. Eight patients had ADHD symptoms (13%, seven had the inattentive ADHD subtype and only three had behavioral problems. When epileptic patients with and without ADHD symptoms were compared we found no significant difference in regard to epilepsy variables. All patients were controlled and 43% were either without AED or undergoing withdrawal. Our study revealed a low comorbidity of ADHD symptoms and epilepsy due to low interference of seizures and drug treatment on the comorbid condition.

  16. Atypical idiopathic inflammatory demyelinating lesions

    DEFF Research Database (Denmark)

    Wallner-Blazek, Mirja; Rovira, Alex; Fillipp, Massimo

    2013-01-01

    Atypical lesions of a presumably idiopathic inflammatory demyelinating origin present quite variably and may pose diagnostic problems. The subsequent clinical course is also uncertain. We, therefore, wanted to clarify if atypical idiopathic inflammatory demyelinating lesions (AIIDLs) can be class......Atypical lesions of a presumably idiopathic inflammatory demyelinating origin present quite variably and may pose diagnostic problems. The subsequent clinical course is also uncertain. We, therefore, wanted to clarify if atypical idiopathic inflammatory demyelinating lesions (AIIDLs) can...... be classified according to previously suggested radiologic characteristics and how this classification relates to prognosis. Searching the databases of eight tertiary referral centres we identified 90 adult patients (61 women, 29 men; mean age 34 years) with ≥1 AIIDL. We collected their demographic, clinical...

  17. Idiopathic aneurysm of pulmonary artery

    Energy Technology Data Exchange (ETDEWEB)

    Pacheco, Julio B. Cota; Pimentel, Patricia N.; Knust, Beatriz S., E-mail: jcota@uol.com.br [Clinica de Cardiologia Cota Pacheco, Mogi das Cruzes, SP (Brazil)

    2015-07-15

    Because it is a very rare isolated lesion, we decided to present this case of idiopathic pulmonary artery aneurysm (IPAA) and review the cases published in the literature in order to correlate our clinical and imaging findings, as well as management based on patient data. IPAA was first described in a case of autopsy by Bristowe in 1860 and later in 1947 by Deterling and Claggett, whose prevalence was lower than eight to one hundred thousand. Although the use of diagnostic imaging methods has been applied in a very large population in recent decades, this lesion has been most often described in postmortem examinations. Therefore, it is important to be aware of possible clinical symptoms, at times non-specific, as well as the signs on imaging studies. In this study, therefore, the report of a case of an asymptomatic patient whose diagnosis was done through color Doppler echocardiography in a routine test in 2012, later confirmed by simple chest computed tomography (chest CT) and cardiac catheterization as IPAA and its branches. We discussed the literature available and the possibilities for treatment and the use of color Doppler echocardiography as an initial diagnostic tool for such a rare and intriguing disease. (author)

  18. Idiopathic pulmonary fibrosis: treatment update.

    LENUS (Irish Health Repository)

    O'Connell, Oisin J

    2011-11-01

    Idiopathic pulmonary fibrosis (IPF) is the most common of the idiopathic interstitial pneumonias. Despite multiple recent clinical trials, there is no strong evidence supporting a survival advantage for any agent in the management of patients with IPF. The limited effectiveness of current treatment regimes has led to a search for novel therapies including antifibrotic strategies. This article reviews the evidence supporting the treatments currently used in the management of IPF.

  19. Idiopathic fibrosing pancreatitis: A cause of obstructive jaundice in childhood

    International Nuclear Information System (INIS)

    Atkinson, G.O. Jr.; Wyly, J.B.; Gay, B.B. Jr.; Ball, T.I.; Winn, K.J.

    1988-01-01

    Idiopathic fibrosing pancreatitis is a chronic process of unknown etiology characterized by extensive infiltration of the pancreatic parenchyma by fibrous tissue. This disease process is uncommon in the pediatric patient and is consequently rarely considered in the differential diagnosis of abdominal pain and jaundice in the child. The sonographic demonstration of a dilated biliary tree and common bile duct compressed by an enlarged pancreas may be the first suggestion of this entity. Two patients with idiopathic fibrosing pancreatitis and obstructive jaundice are reported with a review of the clinical, radiographic, and pathologic findings. (orig.)

  20. Idiopathic fibrosing pancreatitis: A cause of obstructive jaundice in childhood

    Energy Technology Data Exchange (ETDEWEB)

    Atkinson, G.O. Jr.; Wyly, J.B.; Gay, B.B. Jr.; Ball, T.I.; Winn, K.J.

    1988-01-01

    Idiopathic fibrosing pancreatitis is a chronic process of unknown etiology characterized by extensive infiltration of the pancreatic parenchyma by fibrous tissue. This disease process is uncommon in the pediatric patient and is consequently rarely considered in the differential diagnosis of abdominal pain and jaundice in the child. The sonographic demonstration of a dilated biliary tree and common bile duct compressed by an enlarged pancreas may be the first suggestion of this entity. Two patients with idiopathic fibrosing pancreatitis and obstructive jaundice are reported with a review of the clinical, radiographic, and pathologic findings.

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

    International Nuclear Information System (INIS)

    Pochis, W.T.; Krasnow, A.Z.; Collier, B.D.; Mewissen, M.W.; Almagro, U.A.; Hellman, R.S.; Isitman, A.T.

    1990-01-01

    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 often needed for accurate differential diagnosis

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

    Energy Technology Data Exchange (ETDEWEB)

    Pochis, W.T.; Krasnow, A.Z.; Collier, B.D.; Mewissen, M.W.; Almagro, U.A.; Hellman, R.S.; Isitman, A.T. (Medical College of Wisconsin, Milwaukee (USA))

    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 often needed for accurate differential diagnosis.

  3. Idiopathic retroperitoneal fibrosis associated with Hashimoto's thyroiditis in a patient with a single functioning kidney

    Directory of Open Access Journals (Sweden)

    Byung Sun Kim

    2013-12-01

    Full Text Available Retroperitoneal fibrosis (RPF is a rare disease characterized by the presence of fibroinflammatory tissue around the abdominal aorta and ureteral entrapment in most cases. Idiopathic RPF is frequently reported in association with autoimmune diseases; however, there have been few reports of idiopathic RPF associated with Hashimoto's thyroiditis. Here, we report a case of idiopathic RPF with Hashimoto's thyroiditis in a patient with a single functioning kidney, which was successfully treated by corticosteroid therapy and transient intraureteral stent insertion with a double-J catheter.

  4. Impact of Juvenile Idiopathic Arthritis Associated Uveitis in Early Adulthood

    NARCIS (Netherlands)

    Haasnoot, AJW; Vernie, Lenneke A; Rothova, Aniki; V D Doe, Patricia; Los, Leonoor I; Schalij-Delfos, Nicoline E; de Boer, Joke H

    2016-01-01

    BACKGROUND: Typically juvenile idiopathic arthritis (JIA)-associated uveitis (further referred as 'JIA-uveitis') has its onset in childhood, but some patients suffer its, sometimes visual threatening, complications or ongoing disease activity in adulthood. The objective of this study was to analyze

  5. Impact of Juvenile Idiopathic Arthritis Associated Uveitis in Early Adulthood

    NARCIS (Netherlands)

    Haasnoot, Anne-Mieke J. W.; Vernie, Lenneke A.; Rothova, Aniki; van der Doe, Patricia; Los, Leonoor I.; Schalij-Delfos, Nicoline E.; de Boer, Joke H.

    2016-01-01

    Background Typically juvenile idiopathic arthritis (JIA)-associated uveitis (further referred as 'JIA-uveitis') has its onset in childhood, but some patients suffer its, sometimes visual threatening, complications or ongoing disease activity in adulthood. The objective of this study was to analyze

  6. Impact of juvenile idiopathic arthritis associated uveitis in early adulthood

    NARCIS (Netherlands)

    Haasnoot, A.-M.J.W. (Anne-Mieke J. W.); Vernie, L.A. (Lenneke A.); A. Rothová (Aniki); Doe, P.V.D. (Patricia V. D.); L.I. Los (Leonoor I.); N.E. Schalij-Delfos (Nicoline); J.H. de Boer (Joke)

    2016-01-01

    textabstractBackground: Typically juvenile idiopathic arthritis (JIA)-associated uveitis (further referred as 'JIA-uveitis') has its onset in childhood, but some patients suffer its, sometimes visual threatening, complications or ongoing disease activity in adulthood. The objective of this study was

  7. Non-HLA gene polymorphisms in juvenile idiopathic arthritis

    DEFF Research Database (Denmark)

    Alberdi-Saugstrup, M.; Enevold, C.; Zak, M.

    2017-01-01

    Objective: To test the hypothesis that non-HLA single-nucleotide polymorphisms (SNPs) associated with the risk of juvenile idiopathic arthritis (JIA) are risk factors for an unfavourable disease outcome at long-term follow-up. Methods: The Nordic JIA cohort is a prospective multicentre study cohort...

  8. Idiopathic chondrolysis, of the hip - A case report | Smith | South ...

    African Journals Online (AJOL)

    A report of a case of idiopathic chondrolysis of the right hip in a 13-year-old Black girl is presented. Radiographs and microbiological and biochemical investigations excluded all other diseases. Cartilage and synovium were removed at biopsy of the right hip. Macroscopic and histopathological studies showed the typical ...

  9. Prognosis in canine idiopathic immune-mediated haemolytic anaemia

    NARCIS (Netherlands)

    Piek, C.J.

    2011-01-01

    Canine idiopathic immune-mediated haemolytic anaemia (iIMHA) is one of the most frequently occurring immune-mediated diseases in dogs. A gel-based Coombs' test was shown to perform equally well as a classical Coombs' test. Since the gel-based Coombs' test can be commercially produced and is easy and

  10. IDIOPATHIC LARYN GEAL STENOSIS - A VERY RARE CASE

    OpenAIRE

    Sudip Kumar; Ruma; Rajesh; Arvind Kumar; Subhendu

    2014-01-01

    A 35 year old lady presented in the Out Patient Department with cough , dyspnea and gradual hoarseness for last 5 years. After proper history taking and thorough clinical examination , diagnosis of Laryngeal Stenosis was made. Subsequently by excluding important causes of Laryngeal Stenosis like trauma , chronic infection , tuberculosis and other granulomatous diseases , the diagnosis of Idiopathic Laryngeal Stenosis was established KEYWORDS ...

  11. Ankylosant spondylitis association and diffuse idiopathic skeletal hyperostosis (DISH)

    International Nuclear Information System (INIS)

    Medina, Yimi; Restrepo Suarez, Jose Felix; Calvo Paramo, Enrique

    2000-01-01

    We are presenting a 66 year-old patient complaining of low back pain for the last 3 months and cervical pain for the last 45 days, Review of systems showed long standing lumbar and cervical stiffness, Radiological studies were compatible with ankylosing spondylitis and DISH (Diffuse idiopathic Skeletal Hyperostosis). Associations of those diseases are uncommon and reported only few times in the literature

  12. Intraspinal anomalies in early-onset idiopathic scoliosis.

    Science.gov (United States)

    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.

  13. Lung disease severity in idiopathic pulmonary fibrosis is more strongly associated with impedance measures of bolus reflux than pH parameters of acid reflux alone.

    Science.gov (United States)

    Gavini, S; Borges, L F; Finn, R T; Lo, W-K; Goldberg, H J; Burakoff, R; Feldman, N; Chan, W W

    2017-05-01

    Gastroesophageal reflux (GER) has been associated with idiopathic pulmonary fibrosis (IPF). Pathogenesis may be related to chronic micro-aspiration. We aimed to assess objective measures of GER on multichannel intraluminal impedance and pH study (MII-pH) and their relationship with pulmonary function testing (PFT) results, and to compare the performance of pH/acid reflux parameters vs corresponding MII/bolus parameters in predicting pulmonary dysfunction in IPF. This was a retrospective cohort study of IPF patients undergoing prelung transplant evaluation with MII-pH off acid suppression, and having received PFT within 3 months. Patients with prior fundoplication were excluded. Severe pulmonary dysfunction was defined using diffusion capacity of the lung for carbon monoxide (DLCO) ≤40%. Six pH/acid reflux parameters with corresponding MII/bolus reflux measures were specified a priori. Multivariate analyses were applied using forward stepwise logistic regression. Predictive value of each parameter for severe pulmonary dysfunction was calculated by area-under-the-receiver-operating-characteristic-curve or c-statistic. Forty-five subjects (67% M, age 59, 15 mild-moderate vs 30 severe) met criteria for inclusion. Patient demographics and clinical characteristics were similar between pulmonary dysfunction groups. Abnormal total reflux episodes and prolonged bolus clearance time were significantly associated with pulmonary dysfunction severity on univariate and multivariate analyses. No pH parameters were significant. The c-statistic of each pH parameter was lower than its MII counterpart in predicting pulmonary dysfunction. MII/bolus reflux, but not pH/acid reflux, was associated with pulmonary dysfunction in prelung transplant patients with IPF. MII-pH may be more valuable than pH testing alone in characterizing GER in IPF. © 2016 John Wiley & Sons Ltd.

  14. Changes in plasma atrial natriuretic factor in patients with idiopathic atrial fibrillation

    International Nuclear Information System (INIS)

    Du Tongxin; Xia Xiaojie; Qu Wei; Wang Shukui; Sun Junjiang

    2002-01-01

    To observe the changes in plasma atrial natriuretic factor (AFN) in patients with idiopathic atrial fibrillation and investigate its mechanism, plasma ANF, platelet count and hematocrit were detected in 21 cases with transient idiopathic atrial fibrillation (group A, A1 representing attack, while A2 termination), 28 with persistent idiopathic atrial fibrillation (group B), 27 suffered from rheumatic heart disease with mitral stenosis and persistent atrial fibrillation (group C), 32 with transient supraventricular tachycardia (group D) and 20 normal controls (group E). It was found that the level of ANF was significantly higher in patients with attacking transient idiopathic atrial fibrillation than that in group A2, D and E (P 0.05), while there was significant difference in hematocrit in group A1 compared with group A2, D, E (P < 0.01). It suggested that ANF and hematocrit play an important role in the attack of idiopathic atrial fibrillation

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

    Science.gov (United States)

    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.

  16. Surgical treatment analysis of idiopathic esophageal achalasia.

    Science.gov (United States)

    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

  17. Pathology of idiopathic non-cirrhotic portal hypertension.

    Science.gov (United States)

    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.

  18. Using 'swallow-tail' sign and putaminal hypointensity as biomarkers to distinguish multiple system atrophy from idiopathic Parkinson's disease: A susceptibility-weighted imaging study

    Energy Technology Data Exchange (ETDEWEB)

    Wang, Na; Yang, HuaGuang; Li, ChengBo; Fan, GuoGuang [The First Affiliated Hospital of China Medical University, Department of Radiology, Shenyang, Liaoning (China); Luo, XiaoGuang [The First Affiliated Hospital of China Medical University, Department of Neurology, Shenyang, Liaoning (China)

    2017-08-15

    To investigate the value of 'swallow-tail' sign and putaminal hypointensity on 3 T susceptibility-weighted imaging (SWI) for distinguishing multiple system atrophy (MSA) from idiopathic Parkinson's disease (IPD). Three groups - 39 MSA patients, 18 IPD patients,and 31 healthy controls (HCs) - were administered a 3 T SWI sequence to evaluate 'swallow-tail' sign and putaminal hypointensity using visual scales from 0 to 2 and 0 to 3 scores, respectively. The diagnostic accuracy of the two signs separately and combined was calculated using a receiver operating characteristic curve, with clinical diagnosis as the gold standard. The scores of 'swallow-tail' sign were lower in IPD than in MSA or in HCs, as well as for putaminal hypointensity in IPD or HCs than in MSA (p < 0.05). The sensitivity and specificity of 'swallow-tail' sign and putaminal hypointensity were 87.9% and 83.3%, and 35.9% and 100%, respectively, in the respective patient groups. The area under the curve of combined signs was increased from 0.85 ('swallow tail') or 0.68 (putaminal hypointensity) to 0.93. The combination of 'swallow-tail' sign and putaminal hypointensity can increase the accuracy of discriminating between MSA and IPD. (orig.)

  19. Exergaming as a viable therapeutic tool to improve static and dynamic balance among older adults and people with idiopathic Parkinson’s disease: a systematic review and meta-analysis

    Directory of Open Access Journals (Sweden)

    Dale Michael Harris

    2015-09-01

    Full Text Available The use of virtual reality games (known as ‘exergaming’ as a neurorehabilitation tool is gaining interest. Therefore, we aim to collate evidence for the effects of exergaming on the balance and postural control of older adults and people with idiopathic Parkinson’s disease (IPD. Six electronic databases were searched, from inception to April 2015, to identify relevant studies. Standardised mean differences (SMD and 95% confidence intervals (CI were used to calculate effect sizes between experimental and control groups. I2 statistics were used to determine levels of heterogeneity. 309 older adults and 74 people with IPD were assessed across eleven studies. The results showed that exergaming improved static balance (SMD 1.069, 95% CI 0.563 to 1.576, postural control (SMD 0.826, 95% CI 0.481 to 1.170 and dynamic balance (SMD -0.808, 95% CI -1.192 to -0.424 in healthy older adults. Two PD studies showed an improvement in static balance (SMD 0.124, 95% CI -0.581 to 0.828 and postural control (SMD 2.576, 95% CI 1.534 to 3.599. Our findings suggest that exergaming might be an appropriate therapeutic tool for improving balance and postural control in older adults, but more large-scale trials are needed to determine if the same is true for people with IPD.

  20. Exergaming as a Viable Therapeutic Tool to Improve Static and Dynamic Balance among Older Adults and People with Idiopathic Parkinson’s Disease: A Systematic Review and Meta-Analysis

    Science.gov (United States)

    Harris, Dale M.; Rantalainen, Timo; Muthalib, Makii; Johnson, Liam; Teo, Wei-Peng

    2015-01-01

    The use of virtual reality games (known as “exergaming”) as a neurorehabilitation tool is gaining interest. Therefore, we aim to collate evidence for the effects of exergaming on the balance and postural control of older adults and people with idiopathic Parkinson’s disease (IPD). Six electronic databases were searched, from inception to April 2015, to identify relevant studies. Standardized mean differences (SMDs) and 95% confidence intervals (CI) were used to calculate effect sizes between experimental and control groups. I2 statistics were used to determine levels of heterogeneity. 325 older adults and 56 people with IPD who were assessed across 11 ­studies. The results showed that exergaming improved static balance (SMD 1.069, 95% CI 0.563–1.576), postural control (SMD 0.826, 95% CI 0.481–1.170), and dynamic balance (SMD −0.808, 95% CI −1.192 to −0.424) in healthy older adults. Two IPD studies showed an improvement in static balance (SMD 0.124, 95% CI −0.581 to 0.828) and postural control (SMD 2.576, 95% CI 1.534–3.599). Our findings suggest that exergaming might be an appropriate therapeutic tool for improving balance and postural control in older adults, but more ­large-scale trials are needed to determine if the same is true for people with IPD. PMID:26441634

  1. Drug therapy for chronic idiopathic axonal polyneuropathy

    NARCIS (Netherlands)

    Vrancken, A. F. J. E.; van Schaik, I. N.; Hughes, R. A. C.; Notermans, N. C.

    2004-01-01

    BACKGROUND: Chronic idiopathic axonal polyneuropathy is an insidiously progressive sensory or sensorimotor polyneuropathy that affects elderly people. Although severe disability or handicap does not occur, it reduces quality of life. OBJECTIVES: To assess whether drug therapy for chronic idiopathic

  2. The lived experience with idiopathic pulmonary fibrosis

    DEFF Research Database (Denmark)

    Overgaard, Dorthe; Kaldan, Gudrun; Marsaa, Kristoffer

    2016-01-01

    caregivers. Both patients and family caregivers face an altered life as the disease progresses. The aim of our study was to increase knowledge of life with IPF for patients and family caregivers.This study had a qualitative descriptive design using in-depth dyadic interviews with IPF patients (n=25......) and family caregivers (n=24). We used the five-step analysis from the framework method and analysed the data on three levels: the patient, the family caregivers and couple level.The following six themes emerged as the main results: information and disclosure, reactional dyssynchrony, perpetual vigilance......The disease course in idiopathic pulmonary fibrosis (IPF) is variable, but patients experience a progressive decline in lung function and increased symptom burden leading to death. Little is known about the patients' experience and their needs during the disease course or about the burden on family...

  3. Idiopathic Retroperitoneal Hematoma

    Directory of Open Access Journals (Sweden)

    Tomoyuki Abe

    2010-09-01

    Full Text Available A 34-year-old female presented with sudden onset of severe abdominal pain in a flank distribution. A large mass was palpable in the right upper quadrant on physical examination. Abdominal contrast-enhanced computed tomography showed a well-defined, right-sided, retroperitoneal cystic lesion located between the abdominal aorta and the inferior vena cava (IVC. The tumor size was 55 × 58 mm, and it compressed the gallbladder and the duodenum. Upper gastrointestinal radiography revealed a stricture of the second portion of the duodenum by the tumor. T2-weighted magnetic resonance imaging showed that the whole part was hyperintense with hypointense rims, but the inner was partially hypointense. Based on the radiological findings, the preoperative differential diagnosis included retroperitoneal teratoma, Schwannoma, abscess, and primary retroperitoneal tumor. On laparotomy, the tumor was located in the right retroperitoneal cavity. Kocher maneuver and medial visceral rotation, which consists of medial reflection of the upper part of right colon and duodenum by incising their lateral peritoneal attachments, were performed. Although a slight adhesion to the IVC was detected, the tumor was removed safely. Thin-section histopathology examination detected neither tumor tissues nor any tissues such as adrenal gland, ovarian tissue, or endometrial implants. The final pathological diagnosis was idiopathic retroperitoneal hematoma; the origin of the bleeding was unclear. The patient was discharged without any complication 5 days after the operation.

  4. Cytokine profiles in peripheral blood and whole blood cell cultures associated with aggressive periodontitis, juvenile idiopathic arthritis, and rheumatoid arthritis

    DEFF Research Database (Denmark)

    Poulsen, Anne Havemose; Sørensen, Lars Korsbaek; Stoltze, Kaj

    2005-01-01

    Cytokines play a key role in the pathogenesis of inflammatory diseases. An obvious question is whether patients with aggressive periodontitis, juvenile idiopathic arthritis, or rheumatoid arthritis share blood cytokine profiles distinguishing them from individuals free of disease.......Cytokines play a key role in the pathogenesis of inflammatory diseases. An obvious question is whether patients with aggressive periodontitis, juvenile idiopathic arthritis, or rheumatoid arthritis share blood cytokine profiles distinguishing them from individuals free of disease....

  5. International Veterinary Epilepsy Task Force's current understanding of idiopathic epilepsy of genetic or suspected genetic origin in purebred dogs

    DEFF Research Database (Denmark)

    Hülsmeyer, Velia-Isabel; Fischer, Andrea; Mandigers, Paul J. J.

    2015-01-01

    Canine idiopathic epilepsy is a common neurological disease affecting both purebred and crossbred dogs. Various breed-specific cohort, epidemiological and genetic studies have been conducted to date, which all improved our knowledge and general understanding of canine idiopathic epilepsy, and in ...

  6. Idiopathic toe-walking in children, adolescents and young adults: a matter of local or generalised stiffness?

    NARCIS (Netherlands)

    Engelbert, Raoul; Gorter, Jan Willem; Uiterwaal, Cuno; van de Putte, Elise; Helders, Paul

    2011-01-01

    Idiopathic Toe Walking (ITW) is present in children older than 3 years of age still walking on their toes without signs of neurological, orthopaedic or psychiatric diseases. ITW has been estimated to occur in 7% to 24% of the childhood population. To study associations between Idiopathic Toe Walking

  7. Fluorescence optical imaging and musculoskeletal ultrasonography in juvenile idiopathic polyarticular disease before and during antirheumatic treatment - a multicenter non-interventional diagnostic evaluation.

    Science.gov (United States)

    Klein, Ariane; Just, Georg Werner; Werner, Stephanie Gabriele; Oommen, Prasad T; Minden, Kirsten; Becker, Ingrid; Langer, Hans-Eckhard; Klee, Dirk; Horneff, Gerd

    2017-06-30

    Valid detection of inflamed joints is essential for correct classification, therapeutic decisions, prognosis and assessment of treatment efficacy in juvenile idiopathic arthritis (JIA). Fluorescence optical imaging (FOI) enables visualization of inflammation in arthritis of finger and hand joints and might be used for monitoring. A 24-week observational study in polyarticular JIA patients newly starting treatment with methotrexate or an approved biologic was performed in three centers. Patients were evaluated clinically, by gray-scale ultrasonography (GSUS), power-Doppler ultrasonography (PDUS) and FOI at baseline, week 12 and week 24. Of 37 patients enrolled, 24 patients started methotrexate and 13 patients a biologic for the first time (etanercept n = 11, adalimumab and tocilizumab n = 1 each). Mean JADAS 10 decreased significantly from 17.7 at baseline to 12.2 and 7.2 at week 12 and 24 respectively. PedACR 30/50/70/100 response rates at week 24 were 85%/73%/50%/27%. The total number of clinically active joints in hand and fingers at baseline/week 12/week 24 was 262 (23.6%)/162 (16.4%)/162 (9.0%). By GSUS, at baseline/week 12/week 24, 192 (19.4%)/135 (16.1%)/83 (11.5%) joints showed effusions and 186 (18.8%)/107 (12.7%)/69 (9.6%) showed synovial thickening, and by PDUS 68 (6.9%)/15 (1.8%)/36 (5%) joints showed hyperperfusion. Any sign of arthritis was detected by US in a total of 243 joints (24.5%) at baseline, 161 joints (19.2%) at week 12 and 123 joints (17%) at week 24. By FOI at baseline/week 12/week 24, 430 (38.7%)/280 (29.2%)/215 (27.6%) showed a signal enhancement in at least one phase. Summarizing all three points of time, the highest numbers of signals were detected by FOI with 32% of joints, especially in phase 2, while by US 20.7% and by clinical examination 17.5% of joints were active. A high number of joints (21.1%) had FOI signals but were inactive by clinical examination. A total 20.1% of joints with signals in FOI did not show effusion

  8. CT in idiopathic pyogenic myositis of the iliopsoas muscle

    International Nuclear Information System (INIS)

    Kvernebo, K.; Stiris, G.; Haaland, M.; Aker Sykehus, Oslo; Buskerud Country Hospital

    1983-01-01

    Pyogenic myositis of the iliopsoas muscle may occur as a primary clinical entity of an idiopathie nature, or more commonly secondarily to an adjacent disease process. We report 2 cases of idiopathic pyogenic infection caused by Staphylococcus aureus. This disease entity is rare in temperate climates. CT combined with clinical and biochemical information enabled the correct diagnosis, and appropriate treatment could thus be started. (orig.)

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

    Science.gov (United States)

    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 (Pthrombus (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.

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

    Science.gov (United States)

    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

  11. Diffuse Idiopathic Skeletal Hyperosteosis: A Review

    Directory of Open Access Journals (Sweden)

    Sevgi İkbali Afşar

    2015-12-01

    Full Text Available Diffuse idiopathic skeletal hyperosteosis (DISH is also known as Forestier disease and is a systemic non-inflammatory disorder seen more commonly in males and elderly. It is characterized by calcification of the anterior longitudinal ligament of the vertebral column and various extraspinal ligaments. It is usually asymptomatic while the most common symptoms are spinal pain, limited range of spinal motion and dysphagia due to esophagus compression. The etiopathogenesis is not clear. It is commonly seen together with diabetes mellitus, obesity, hyperinsulinemia, hypertension and lipid and purine metabolism disorders, indicating an association with metabolic disorders. Recent studies have emphasized that the pathological calcification of the anterior longitudinal ligament plays a role in the pathophysiology. The aim of this study was to summarize new pathogenetic, clinical and therapeutic insights of this disease, based on published literature.

  12. Lung Fibroblasts, Aging, and Idiopathic Pulmonary Fibrosis.

    Science.gov (United States)

    Pardo, Annie; Selman, Moisés

    2016-12-01

    Idiopathic pulmonary fibrosis (IPF) is an aging-associated, progressive, and irreversible lung disease of unknown etiology, elusive pathogenesis, and very limited therapeutic options. The hallmarks of IPF are aberrant activation of alveolar epithelial cells and accumulation of fibroblasts and myofibroblasts along with excessive production of extracellular matrix. The linkage of aging with this disorder is uncertain, but a number of changes associated with aging, including telomere attrition, cell senescence, and mitochondrial dysfunction, have been revealed in IPF lungs. Also, aging seems to confer a profibrotic phenotype upon fibroblasts and to increase the severity of the fibrogenic response in non-IPF fibrotic lung disorders. Better knowledge of the pathophysiological mechanisms linking aging to IPF will advance understanding of its pathogenesis and may provide new therapeutic windows to treatment of this devastating disease.

  13. Familial steroid-sensitive idiopathic nephrotic syndrome: seven cases from three families in China

    Directory of Open Access Journals (Sweden)

    Yonghui Xia

    2013-05-01

    Full Text Available OBJECTIVES: Familial steroid-sensitive idiopathic nephrotic syndrome is rare, and only approximately 3% of patients have affected siblings. METHODS: Herein, we report seven cases of patients with steroid-sensitive idiopathic nephrotic syndrome from three Chinese families. Mutational screening of the Nphs2 gene was performed in all the patients. RESULTS: All seven of the familial steroid-sensitive idiopathic nephrotic syndrome cases in our sample exhibited minimal change disease, and one case also presented with mesangial proliferative glomerulonephritis, according to the renal pathology. No significant was associations were found between Nphs2 gene mutations and the onset of proteinuria and nephrotic syndrome in these familial cases. CONCLUSIONS: The presence of minimal change disease is important, but it is not an unusual finding in patients with familial steroid-sensitive idiopathic nephrotic syndrome, which appears to be clinically benign and genetically distinct from other types of nephrosis.

  14. Item Response Theory as an Efficient Tool to Describe a Heterogeneous Clinical Rating Scale in De Novo Idiopathic Parkinson's Disease Patients.

    Science.gov (United States)

    Buatois, Simon; Retout, Sylvie; Frey, Nicolas; Ueckert, Sebastian

    2017-10-01

    This manuscript aims to precisely describe the natural disease progression of Parkinson's disease (PD) patients and evaluate approaches to increase the drug effect detection power. An item response theory (IRT) longitudinal model was built to describe the natural disease progression of 423 de novo PD patients followed during 48 months while taking into account the heterogeneous nature of the MDS-UPDRS. Clinical trial simulations were then used to compare drug effect detection power from IRT and sum of item scores based analysis under different analysis endpoints and drug effects. The IRT longitudinal model accurately describes the evolution of patients with and without PD medications while estimating different progression rates for the subscales. When comparing analysis methods, the IRT-based one consistently provided the highest power. IRT is a powerful tool which enables to capture the heterogeneous nature of the MDS-UPDRS.

  15. Precision Medicine: The New Frontier in Idiopathic Pulmonary Fibrosis.

    Science.gov (United States)

    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.

  16. Idiopathic Noncirrhotic Portal Hypertension: An Appraisal

    Science.gov (United States)

    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

  17. [Biologic therapy in idiopathic inflammatory myopathy].

    Science.gov (United States)

    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.

  18. Idiopathic Harlequin syndrome – case report

    Directory of Open Access Journals (Sweden)

    Marcelina Grochowiec

    2015-09-01

    Full Text Available Introduction. Harlequin syndrome is a very rare neurological condition characterized by redness and excessive sweating of one half of the face in response to exercise and emotions. In most cases this disorder is not life-threatening. Objective. To present diagnostic difficulties of Harlequin syndrome in dermatological practice. Case report. We present a case of a 30-year-old man with redness and excessive sweating of the right half of the face as a result of exercise that was observed during the diagnosis of chronic urticaria at the Department of Dermatology. The patient was examined ophthalmologically and neurologically, had a CT scan of the head, and the Minor test performed. Idiopathic Harlequin syndrome was diagnosed based on case history and workup results. Conclusions . Harlequin syndrome occurs most often in the form of an idiopathic condition, but neurologic and ophthalmologic assessment should be performed since some diseases, such as brainstem infarction and schwannoma of the upper chest, may initially appear as Harlequin syndrome.

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

    OpenAIRE

    La Torre, Francesco; Cattalini, Marco; Teruzzi, Barbara; Meini, Antonella; Moramarco, Fulvio; Iannone, Florenzo

    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, corti...

  20. CLINICAL CASE OF TOCILIZUMAB THERAPY IN A PATIENT WITH SYSTEMIC JUVENILE IDIOPATHIC ARTHRITIS

    Directory of Open Access Journals (Sweden)

    E. I. Alexeeva

    2013-01-01

    Full Text Available The article presents a case of successful application of a monoclonal antibodies drug to interleukin 6 receptors (tocilizumab at severe systemic juvenile idiopathic arthritis with the development of secondary hemophagocytic syndrome. Tocilizumab treatment secured a decrease in clinical and laboratory parameters of the disease activity, life quality improvement, systemic juvenile idiopathic arthritis and hemophagocytic syndrome remission and allowed avoiding the per os prescription of glucocorticoids.

  1. Comparison of microbiological, histological, and immunomodulatory parameters in response to treatment with either combination therapy with prednisone and metronidazole or probiotic VSL#3 strains in dogs with idiopathic inflammatory bowel disease.

    Science.gov (United States)

    Rossi, Giacomo; Pengo, Graziano; Caldin, Marco; Palumbo Piccionello, Angela; Steiner, Jörg M; Cohen, Noah D; Jergens, Albert E; Suchodolski, Jan S

    2014-01-01

    Idiopathic inflammatory bowel disease (IBD) is a common chronic enteropathy in dogs. There are no published studies regarding the use of probiotics in the treatment of canine IBD. The objectives were to compare responses to treatment with either combination therapy (prednisone and metronidazole) or probiotic strains (VSL#3) in dogs with IBD. Twenty pet dogs with a diagnosis of IBD, ten healthy pet dogs, and archived control intestinal tissues from three euthanized dogs were used in this open label study. Dogs with IBD were randomized to receive either probiotic (D-VSL#3, n = 10) or combination drug therapy (D-CT, n = 10). Dogs were monitored for 60 days (during treatment) and re-evaluated 30 days after completing treatment. The CIBDAI (Pdogs in the D-VSL#3 group compared to the D-CT group. Changes in apical junction complex molecules occludin and claudin-2 differed depending on treatment. Faecalibacterium and Turicibacter were significantly decreased in dogs with IBD at T0, with a significant increase in Faecalibacterium abundance observed in the animals treated with VSL#3 strains. A protective effect of VSL#3 strains was observed in dogs with IBD, with a significant decrease in clinical and histological scores and a decrease in CD3+ T-cell infiltration. Protection was associated with an enhancement of regulatory T-cell markers (FoxP3+ and TGF-β+), specifically observed in the probiotic-treated group and not in animals receiving combination therapy. A normalization of dysbiosis after long-term therapy was observed in the probiotic group. Larger scale studies are warranted to evaluate the clinical efficacy of VSL#3 in canine IBD.

  2. Idiopathic epileptic syndromes and cognition.

    Science.gov (United States)

    Hommet, Caroline; Sauerwein, Hannelore C; De Toffol, Bertrand; Lassonde, Maryse

    2006-01-01

    Epilepsy is frequently associated with cognitive impairments which result from various interacting factors. The present paper deals with the contribution of neuropsychology to the characterization of the type of epilepsy and the possible mechanisms underlying idiopathic epileptic syndromes. The non-lesional, so-called idiopathic epilepsies, constitute an interesting model for assessing the relationship between epileptiform EEG discharges and cognition. Among the idiopathic generalized epilepsies, disorders of social integration and personality have been frequently reported in juvenile myoclonic epilepsy (JME). Since similar disturbances are observed in frontal-lobe-lesioned patients, impairments in other frontal lobe functions (e.g. executive functions) might be expected in JME. This gives rise to speculation about the possible underlying pathophysiological mechanisms in JME. With regard to partial idiopathic epilepsies, benign childhood epilepsy with centrotemporal spikes (BCECTS) may provide a useful model for the study of the relationship between epileptiform EEG discharges in the peri-sylvian region and language functions. Furthermore, the description of mild cognitive dysfunctions in BCECTS, and their persistence into adulthood, can provide information about compensatory mechanisms and may allow for the generation of remedial strategies. Thus, 'lesional' neuropsychology has given way to 'dynamic' neuropsychology based on specific postulates. By using the cognitive profile to specify the mechanism underlying the behavioral disturbances observed in different types of epilepsy, neuropsychology may eventually contribute to a revision of the present classification of epileptic syndromes. In addition, the neuropsychological data may help predict the extent and limits of functional recovery and cerebral plasticity.

  3. Antioxidant therapy in idiopathic oligoasthenoteratozoospermia

    Directory of Open Access Journals (Sweden)

    Ahmad Majzoub

    2017-01-01

    Conclusion: Additional randomized controlled studies are required to confirm the efficacy and safety of antioxidant supplementation in the medical treatment of idiopathic male infertility as well as the dosage required to improve semen parameters, fertilization rates, and pregnancy outcomes in iOAT.

  4. Doença de Graves associada à artrite idiopática juvenil Graves' disease associated with juvenile idiopathic arthritis

    Directory of Open Access Journals (Sweden)

    Vanessa de Matos Santos Mendonça Marques

    2011-04-01

    Full Text Available Os autores relatam o caso de uma menina de 10 anos de idade com diagnóstico de doença de Graves (DG, em tratamento com propiltiouracil, que desenvolveu uveíte e artrite poliarticular e cuja mãe também tem DG e lúpus discoide. São discutidos os diagnósticos diferenciais de artrite inflamatória que surge em uma criança com doença tireoidiana autoimune medicada com drogas antitireóideas.The authors report the case of a 10-year-old girl with Graves' disease (GD, treated with propylthiouracil, who developed uveitis and polyarticular arthritis, and whose mother also had GD and discoid lupus. The differential diagnosis of inflammatory arthritis that appears in a child with autoimmune thyroid disease managed with antithyroid drugs is discussed.

  5. Iodine 123-labeled meta-iodobenzylguanidine myocardial scintigraphy in the cases of idiopathic Parkinson`s disease, multiple system atrophy, and progressive supranuclear palsy

    Energy Technology Data Exchange (ETDEWEB)

    Yoshita, Mitsuhiro; Hayashi, Michiyuki; Hirai, Shunsaku [Tokyo Metropolitan Neurological Hospital (Japan)

    1997-06-01

    To investigate cardiac sympathetic function in Parkinson`s disease (PD), multiple system atrophy (MSA), and progressive supranuclear palsy (PSP), {sup 123}I-MIBG myocardial scintigraphy was performed in 25 patients with PD, 25 patients with MSA, 14 patients with PSP, and 20 control subjects. In planar imaging studies, the heart-to-mediastinum average count ratio (H/M) was calculated for both early and delayed images. The mean value of H/M in patients with PD was significantly lower than in those with MSA, PSP, or no disease. Regardless of disease severity or intensity of anti-parkinsonian pharmacotherapy, mean values for H/M were always low in patients with PD. The mean values of H/M in patients with MSA and PSP were significantly lower than in controls. There was no significant difference between the mean value of H/M in MSA with orthostatic hypotension (OH) and that in MSA without OH, and also there was no significant difference between the mean value of H/M in MSA with striatonigral degeneration and that in MSA with olivopontocerebellar atrophy. Although the mean value of H/M in PSP with amitriptyline treatment was significantly lower than that in PSP patients without amitriptyline treatment, there was no significant difference between the mean value of H/M in PSP patients without amitriptyline treatment and that in controls. There was no correlation between H/M and disease duration in those three akinetic-rigid disorders that we have studied here. Thus, PD may have an abnormality of cardiac sympathetic function which has not been detected by previous cardiovascular autonomic studies. Particularly in early stages, {sup 123}I-MIBG myocardial scintigraphy may help to differentiate PD from MSA and PSP. (K.H.)

  6. [Idiopathic facial paralysis in children].

    Science.gov (United States)

    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.

  7. Clinical correlation of the binding potential with {sup 123}I-FP-CIT in de novo idiopathic Parkinson's disease patients

    Energy Technology Data Exchange (ETDEWEB)

    Berti, Valentina; Pupi, Alberto; Vanzi, Eleonora; Cristofaro, Maria Teresa de; Pellicano, Giannantonio; Mungai, Francesco [University of Florence, Clinical Pathophysiology, Florence (Italy); Ramat, Silvia; Marini, Paolo; Sorbi, Sandro [University of Florence, Neurological and Psychiatric Sciences, Florence (Italy)

    2008-12-15

    The aim of this study was to evaluate the accuracy of different single-photon emission computed tomography (SPECT) reconstruction techniques in measuring striatal N-{omega}-fluoropropyl-2{beta}-carbomethoxy-3{beta}-4-[{sup 123}I]iodophenyl-nortropane ({sup 123}I-FP-CIT) binding in de novo Parkinson's disease (PD) patients, in order to find a correlation with clinical scales of disease severity in the initial phases of disease. Thirty-six de novo PD patients underwent {sup 123}I-FP-CIT SPECT and MRI scan. SPECT data were reconstructed with filtered back projection (FBP), with an iterative algorithm (ordered subset expected maximization, OSEM) and with a method previously developed in our institution, called least-squares (LS) method. The ratio of specific to non-specific striatal {sup 123}I-FP-CIT binding (binding potential, BP) was used as the outcome measure with all the reconstruction methods (BP{sub FBP}, BP{sub OSEM}, BP{sub LS}). The range of values of striatal BP{sub LS} was significantly greater than BP{sub FBP} and BP{sub OSEM}. For all striatal regions, estimates of BP{sub FBP} correlated well with BP{sub OSEM} (r=0.84) and with BP{sub LS} (r=0.64); BP{sub OSEM} correlated significantly with BP{sub LS} (r=0.76). A good correlation was found between putaminal BP{sub LS} and Hoen and Yahr, Unified PD Rating Scale (UPDRS) and lateralized UPDRS motor scores (r=-0.46, r=-0.42, r=-0.39, respectively). Neither putaminal BP{sub FBP} nor putaminal BP{sub OSEM} correlated with any of these motor scores. In de novo PD patients, {sup 123}I-FP-CIT BP values derived from FBP and OSEM reconstruction techniques do not permit to differentiate PD severity. The LS method instead finds a correlation between striatal BP and disease severity scores. The results of this study support the use of {sup 123}I-FP-CIT BP values estimated with the LS method as a biomarker of PD severity. (orig.)

  8. Analysis of the Juvenile Idiopathic Arthritis Immunization Schedule

    Directory of Open Access Journals (Sweden)

    L. S. Namazova-Baranova

    2016-01-01

    Full Text Available Background: The connection between vaccination and autoimmune diseases (and rheumatic pathology in particular is still a subject of discussions. When discussing the possibility of vaccinating rheumatic patients we should take into account the ultra high dangers that infectious diseases pose for such patients, including those that can be prevented by vaccination. We should also take into account the experience of using various vaccine types in rheumatic patients, which illustrates of their high safety profile.Objective: Our aim was to study the immunization schedule in children with juvenile idiopathic arthritis.Methods: The evaluation of vaccine history and other anamnestic data in juvenile idiopathic arthritis patients was based on individual medical records (individual child’s card/preventive vaccination certificate, as well as questionnaires filled by mothers.Results: It has been determined that a significant proportion of children with vaccination schedule deviations are juvenile idiopathic arthritis patients. Almost one in four children with a confirmed rheumatic diagnosis has not been immunized against the major vaccine-preventable diseases. In one non-vaccinated group, there was a case of juvenile arthritis onset after recovering from measles. A small number of patient mothers connects the manifestation of rheumatic diseases with vaccination.Conclusion: Violations of vaccination status in JIA patients require corrections according to the results of clinical studies and the recommendations of international experts.

  9. Non-invasive Imaging of Idiopathic Pulmonary Fibrosis Using Cathepsin Protease Probes

    NARCIS (Netherlands)

    Withana, N.P.; Ma, X.W.; McGuire, H.M.; Verdoes, M.; Linden, W.A. van der; Ofori, L.O.; Zhang, R.P.; Li, H.; Sanman, L.E.; Wei, K.; Yao, S.B.; Wu, P.L.; Li, F.; Huang, H.; Xu, Z.J.; Wolters, P.J.; Rosen, G.D.; Collard, H.R.; Zhu, Z.H.; Cheng, Z.; Bogyo, M.

    2016-01-01

    Idiopathic pulmonary fibrosis (IPF) is a lethal, chronic, progressive disease characterized by formation of scar tissue within the lungs. Because it is a disease of unknown etiology, it is difficult to diagnose, to predict disease course and to devise treatment strategies. Recent evidence suggests

  10. Idiopathic hypereosinophilic syndrome associated with rheumatoid arthritis A case report

    Directory of Open Access Journals (Sweden)

    P. Quattrocchi

    2011-09-01

    Full Text Available The idiopathic hypereosinophilic sindrome (HES is a disease characterized by persistent blood eosinophilia (> 1500 eosinophils/mm3 > 6 months-in absence of other ethiologies for eosinophilia (parasitic, allergic, immunological or malignant diseases-associated with multiple organ involvement (heart, lung, central nervous system, skin, bone marrow, gastrointestinal tract. Reports on rheumatologic manifestations in patients with HES are very rare. In the case we report a typical rheumatoid arthritis developed in a 58-year-old woman with HES treated with glucocorticoids. Because of the marked glucocorticoids side effects shown by the patient(cushingoid habitus, hyperglycemia, we stopped this treatment and replaced it at first by methotrexate and later by cyclosporin, both of them associated with sulfasalazine. These drugs revealed very efficacious both on articular pathology and on the clinical and laboratory manifestations of HES. These data suggest that common pathogenetic mechanisms are likely acting in rheumatoid arthritis and idiopathic hypereosinophilic syndrome.

  11. Risk of Serious Infection in Juvenile Idiopathic Arthritis Patients Associated With Tumor Necrosis Factor Inhibitors and Disease Activity in the German Biologics in Pediatric Rheumatology Registry.

    Science.gov (United States)

    Becker, Ingrid; Horneff, Gerd

    2017-04-01

    To examine the effects of tumor necrosis factor inhibitors on the risk for serious infections and other influencing factors in a registry. Patients exposed for the first time to etanercept, adalimumab, or methotrexate and serious infections were identified in the German Biologic Registry for Pediatric Rheumatology (BIKER) registry. Serious infection rates per 1,000 observation-years and relative risks were calculated. Cox regression identified risk factors and provided hazard ratios (HRs) for occurrence of infections. A total of 3,350 patients with 5,919 observation-years fulfilled the inclusion criteria for the study. The first biologic agents were etanercept (1,720 cases) and adalimumab (177 cases). A total of 1,453 patients were treated with methotrexate and no biologic agent. In total, 28 serious infections were reported in 26 patients (4.7 per 1,000 patient-years), 5 with methotrexate (1.6 per 1,000 patient-years), 21 with etanercept (8.1 per 1,000 patient-years), and 2 with adalimumab (9.7 per 1,000 patient-years). Significant univariate risk factors for infection were therapy with biologic agents, disease duration before therapy start, corticosteroid medication, nonbiologic premedications, higher clinical Juvenile Arthritis Disease Activity Score including maximal 10 joints (cJADAS10) at therapy start, and higher mean cJADAS10 during therapy. In multivariate Cox regression, only biologic therapy and cJADAS10 at therapy start remained significant. Risk for infection was increased by etanercept (univariate HR 6.0 [95% confidence interval (95% CI) 2.0-17.5]) or adalimumab (HR 7.3 [95% CI 1.3-40.0]) compared to methotrexate as well as by an elevated cJADAS10 at therapy start (HR 1.1 [95% CI 1.0-1.2] per unit increase). The total rate of serious infections reported in the BIKER registry seems low. Treatment with etanercept or adalimumab increases the risk for serious infection slightly, compared to methotrexate. Disease activity expressed by cJADAS10 appears to

  12. Imaging findings in idiopathic pelvic fibrosis

    International Nuclear Information System (INIS)

    Wiesner, W.; Bongartz, G.; Stoffel, F.

    2001-01-01

    Two patients presented with ureteric obstruction, and voiding symptoms and constipation, respectively, and were examined by means of intravenous urography and computed tomography. One patient was additionally examined by means of MR tomography. After CT (performed in both patients) and MRT (performed in one patient) had shown a diffuse, contrast-enhancing, infiltrating process in the small pelvis with infiltration of adjacent organs and vessels, surgical biopsy proved the diagnosis of idopathic pelvic fibrosis. Extension of retroperitoneal fibrosis below the pelvic rim is very rare. Clinical symptoms of pelvic fibrosis are variable and imaging findings may lead to a broad list of differential diagnoses. We present two patients with idiopathic pelvic fibrosis and discuss radiological findings and differential diagnoses of this rare disease. (orig.)

  13. Imaging findings in idiopathic pelvic fibrosis

    Energy Technology Data Exchange (ETDEWEB)

    Wiesner, W.; Bongartz, G. [Inst. of Diagnostic Radiology University Hospital Basel (Switzerland); Stoffel, F. [Inst. of Urology, University Hospital Basel (Switzerland)

    2001-04-01

    Two patients presented with ureteric obstruction, and voiding symptoms and constipation, respectively, and were examined by means of intravenous urography and computed tomography. One patient was additionally examined by means of MR tomography. After CT (performed in both patients) and MRT (performed in one patient) had shown a diffuse, contrast-enhancing, infiltrating process in the small pelvis with infiltration of adjacent organs and vessels, surgical biopsy proved the diagnosis of idopathic pelvic fibrosis. Extension of retroperitoneal fibrosis below the pelvic rim is very rare. Clinical symptoms of pelvic fibrosis are variable and imaging findings may lead to a broad list of differential diagnoses. We present two patients with idiopathic pelvic fibrosis and discuss radiological findings and differential diagnoses of this rare disease. (orig.)

  14. Molecular biomarkers in idiopathic pulmonary fibrosis

    Science.gov (United States)

    Ley, Brett; Brown, Kevin K.

    2014-01-01

    Molecular biomarkers are highly desired in idiopathic pulmonary fibrosis (IPF), where they hold the potential to elucidate underlying disease mechanisms, accelerated drug development, and advance clinical management. Currently, there are no molecular biomarkers in widespread clinical use for IPF, and the search for potential markers remains in its infancy. Proposed core mechanisms in the pathogenesis of IPF for which candidate markers have been offered include alveolar epithelial cell dysfunction, immune dysregulation, and fibrogenesis. Useful markers reflect important pathological pathways, are practically and accurately measured, have undergone extensive validation, and are an improvement upon the current approach for their intended use. The successful development of useful molecular biomarkers is a central challenge for the future of translational research in IPF and will require collaborative efforts among those parties invested in advancing the care of patients with IPF. PMID:25260757

  15. EFFICACY OF ETANERCEPT IN TREATMENT OF VARIOUS TYPES OF JUVENILE IDIOPATHIC ARTHRITIS

    Directory of Open Access Journals (Sweden)

    O. Yu. Konopel'ko

    2013-01-01

    Full Text Available Aim: to assess efficacy and safety of etanercept in treatment of various types of juvenile idiopathic arthritis in children under conditions of real clinical practice. Patients and methods: 52 children were included into the study, among them 16 were with systemic and 36 with juvenile idiopathic arthritis without extra-articular involvement. Results: etanercept treatment was the most efficient in patients with systemic juvenile idiopathic arthritis without extra-articular involvement. In 6 and 12 months of the treatment 50 and 70% improvement according to the ACRpedi criteria were established in 31/36 (86% and 28/36 (78% of the patients, respectively. In 24 months in 5 (29% of 17 children remained in the study remission stage of the diseases was confirmed. Conclusions: etanercept treatment was not associated with significant unfavorable effects, which allows to recommend this drug for treatment of juvenile idiopathic arthritis without extra-articular involvent and resistant to standard anti-rheumatic therapy.

  16. Idiopathic Basal Ganglia Calcification Presented with Impulse Control Disorder

    OpenAIRE

    Sahin, Cem; Levent, Mustafa; Akbaba, Gulhan; Kara, Bilge; Yeniceri, Emine Nese; Inanc, Betul Battaloglu

    2015-01-01

    Primary familial brain calcification (PFBC), also referred to as Idiopathic Basal Ganglia Calcification (IBGC) or “Fahr’s disease,” is a clinical condition characterized by symmetric and bilateral calcification of globus pallidus and also basal ganglions, cerebellar nuclei, and other deep cortical structures. It could be accompanied by parathyroid disorder and other metabolic disturbances. The clinical features are dysfunction of the calcified anatomic localization. IBGC most commonly present...

  17. Quantitative nailfold video capillaroscopy in patients with idiopathic inflammatory myopathy

    OpenAIRE

    Mercer, Louise K.; Moore, Tonia L.; Chinoy, Hector; Murray, Andrea K.; Vail, Andy; Cooper, Robert G.; Herrick, Ariane L.

    2010-01-01

    Objectives. To quantify nailfold capillary density and dimensions in patients with idiopathic inflammatory myopathy (IIM) and compare them with those in healthy controls; to look for associations with microvascular disease in IIM; and to determine whether nailfold capillary density and dimensions change over time. Methods. Nailfold video microscopy (×300 magnification) was performed on 24 patients with IIM and 35 healthy controls. Capillary density and dimensions (total width and apical width...

  18. The idiopathic interstitial pneumonias: understanding key radiological features

    Energy Technology Data Exchange (ETDEWEB)

    Dixon, S. [Department of Radiology, Churchill Hospital, Old Road, Oxford OX3 7LJ (United Kingdom); Benamore, R., E-mail: Rachel.Benamore@orh.nhs.u [Department of Radiology, Churchill Hospital, Old Road, Oxford OX3 7LJ (United Kingdom)

    2010-10-15

    Many radiologists find it challenging to distinguish between the different interstitial idiopathic pneumonias (IIPs). The British Thoracic Society guidelines on interstitial lung disease (2008) recommend the formation of multidisciplinary meetings, with diagnoses made by combined radiological, pathological, and clinical findings. This review focuses on understanding typical and atypical radiological features on high-resolution computed tomography between the different IIPs, to help the radiologist determine when a confident diagnosis can be made and how to deal with uncertainty.

  19. The idiopathic interstitial pneumonias: understanding key radiological features

    International Nuclear Information System (INIS)

    Dixon, S.; Benamore, R.

    2010-01-01

    Many radiologists find it challenging to distinguish between the different interstitial idiopathic pneumonias (IIPs). The British Thoracic Society guidelines on interstitial lung disease (2008) recommend the formation of multidisciplinary meetings, with diagnoses made by combined radiological, pathological, and clinical findings. This review focuses on understanding typical and atypical radiological features on high-resolution computed tomography between the different IIPs, to help the radiologist determine when a confident diagnosis can be made and how to deal with uncertainty.

  20. Matrix Metalloproteinases as Therapeutic Targets for Idiopathic Pulmonary Fibrosis

    OpenAIRE

    Craig, Vanessa J.; Zhang, Li; Hagood, James S.; Owen, Caroline A.

    2015-01-01

    Idiopathic pulmonary fibrosis (IPF) is a restrictive lung disease that is associated with high morbidity and mortality. Current medical therapies are not fully effective at limiting mortality in patients with IPF, and new therapies are urgently needed. Matrix metalloproteinases (MMPs) are proteinases that, together, can degrade all components of the extracellular matrix and numerous nonmatrix proteins. MMPs and their inhibitors, tissue inhibitors of MMPs (TIMPs), have been implicated in the p...

  1. The magnetic resonance image findings of idiopathic granulomatous mastitis

    International Nuclear Information System (INIS)

    Yaghan, Rami J.

    2004-01-01

    Idiopathic granulomatous mastitis is rare disease of breast. Clinically and radiologically it may mimic breast carcinoma. We report a case of a 34-year old female patient with the diagnosis, concentrating on magnetic resonance image (MRI) findings and its clinical application. There have been other reports on MRI findings in this entity in the radiological literature, but in our case report clinical, cytological, pathological and radiological correlations are also provided. (author)

  2. Diagnosis and treatment of the idiopathic inflammatory myopathies

    OpenAIRE

    Gazeley, David J.; Cronin, Mary E.

    2011-01-01

    The idiopathic inflammatory myopathies (IIMs) are rare disorders with the unifying feature of proximal muscle weakness. These diseases include polymyositis(PM), dermatomyositis (DM) and inclusion body myositis (IBM) as the most common. The diagnosis is based on the finding of weakness on exam, elevated muscles enzymes, characteristic histopathology of muscle biopsies, electromyography abnormalities and rash in DM. Myositis-specific antibodies have been helpful in defining subsets of patients ...

  3. IDENTIFICATION OF SPONTANEOUS FELINE IDIOPATHIC PULMONARY FIBROSIS: MORPHOLOGY AND ULTRASTRUCTURAL EVIDENCE FOR A TYPE II PNEUMOCYTE DEFECT

    Science.gov (United States)

    AbstractIdiopathic pulmonary fibrosis currently lacks an animal model that develops the persistent, progressive lung fibrosis characteristic of the disease. Sixteen domestic cats developed dyspnea that was not responsive to therapy and which rapidly progressed until death/eu...

  4. Cardiovascular Risk in Primary Hyperaldosteronism

    NARCIS (Netherlands)

    Prejbisz, A.; Warchol-Celinska, E.; Lenders, J.W.M.; Januszewicz, A.

    2015-01-01

    After the first cases of primary aldosteronism were described and characterized by Conn, a substantial body of experimental and clinical evidence about the long-term effects of excess aldosterone on the cardiovascular system was gathered over the last 5 decades. The prevalence of primary

  5. Cardiovascular Risk in Primary Hyperaldosteronism.

    Science.gov (United States)

    Prejbisz, A; Warchoł-Celińska, E; Lenders, J W M; Januszewicz, A

    2015-12-01

    After the first cases of primary aldosteronism were described and characterized by Conn, a substantial body of experimental and clinical evidence about the long-term effects of excess aldosterone on the cardiovascular system was gathered over the last 5 decades. The prevalence of primary aldosteronism varies considerably between different studies among hypertensive patients, depending on patient selection, the used diagnostic methods, and the severity of hypertension. Prevalence rates vary from 4.6 to 16.6% in those studies in which confirmatory tests to diagnose primary aldosteronism were used. There is also growing evidence indicating that prolonged exposure to elevated aldosterone concentrations is associated with target organ damage in the heart, kidney, and arterial wall, and high cardiovascular risk in patients with primary aldosteronism. Therefore, the aim of treatment should not be confined to BP normalization and hypokalemia correction, but rather should focus on restoring the deleterious effects of excess aldosterone on the cardiovascular system. Current evidence convincingly demonstrates that both surgical and medical treatment strategies beneficially affect cardiovascular outcomes and mortality in the long term. Further studies can be expected to provide better insight into the relationship between cardiovascular risk and complications and the genetic background of primary aldosteronism. © Georg Thieme Verlag KG Stuttgart · New York.

  6. Genetic architecture distinguishes systemic juvenile idiopathic arthritis from otherforms of juvenile idiopathic arthritis: clinical and therapeutic implications

    OpenAIRE

    Ombrello, Michael J.; Arthur, Victoria L.; Remmers, Elaine F.; Hinks, Anne; Tachmazidou, Ioanna; Grom, Alexei A.; Foell, Dirk; Martini, Alberto; Gattorno, Marco; Ozen, Seza; Prahalad, Sampath; Zeft, Andrew S.; Bohnsack, John F.; Ilowite, Norman T.; Mellins, Elizabeth D.

    2016-01-01

    Objectives: Juvenile idiopathic arthritis (JIA) is a heterogeneous group of conditions unified by the presence of chronic childhood arthritis without an identifiable cause. Systemic JIA (sJIA) is a rare form of JIA characterized by systemic inflammation. sJIA is distinguished from other forms of JIA by unique clinical features and treatment responses that are similar to autoinflammatory diseases. However approximately half of children with sJIA develop destructive, longstanding arthritis that...

  7. A case of idiopathic portalhypertension

    International Nuclear Information System (INIS)

    Serizawa, Ken; Yajima, Yoshiaki; Onodera, Hiroyoshi; Hirata, Toru; Sugawara, Hiroshi

    1982-01-01

    A 40-year-old man was referred to our clinic for esophageal varices. Histological examination of the liver biopsy samples revealed no sign of liver cirrhosis. Celiac angiography and ultrasound showed no obstruction of portal vein. A diagnosis of idiopathic portalhypertension was established. Splenomegaly and collateral circulation from spleen to left retroperitoneum were shown on CT scan and confirmed by surgical operation. CT scan following operation showed no collateral circulation. (author)

  8. Syphilis mimicking idiopathic intracranial hypertension

    DEFF Research Database (Denmark)

    Yri, Hanne; Wegener, Marianne; Jensen, Rigmor

    2011-01-01

    Idiopathic intracranial hypertension (IIH) is a condition of yet unknown aetiology affecting predominantly obese females of childbearing age. IIH is a diagnosis of exclusion as raised cerebrospinal fluid pressure may occur secondary to numerous other medical conditions. An atypical phenotype or a...... antibiotic treatment, signs and symptoms of elevated intracranial pressure resolved completely. Syphilis is a rare, but very important, differential diagnosis that in this case was clinically indistinguishable from IIH....

  9. O uso da acupuntura no auxílio à terapia da doença idiopática do trato urinário inferior dos felinos Use of acupuncture in the management and therapy of feline idiopathic lower urinary tract disease

    Directory of Open Access Journals (Sweden)

    Luciano Henrique Giovaninni

    2010-03-01

    Full Text Available Diferentes afecções podem acometer o trato urinário inferior dos felinos, acarretando sinais clínicos inespecíficos como: hematúria, disúria, polaquiúria, estrangúria, periúria ou obstrução, caracterizando a doença do trato urinário inferior dos felinos (DTUIF. Entretanto, em até 65% dos felinos acometidos, a etiologia é indeterminada, denominada de doença idiopática do trato urinário inferior dos felinos (DTUIF idiopática, que tem se mostrado como um desafio ao clínico veterinário, uma vez que não há diagnóstico específico ou terapia efetiva. Atualmente, tem sido estudado o papel da inflamação neurogênica da bexiga urinária secundária ao estresse, como etiologia da DTUIF idiopática. Há evidências científicas de que a acupuntura restaure a homeostase, reduza o estresse e, pela estimulação neural periférica, ative mecanismos endógenos de antinocicepção, regulando a liberação de mediadores dos mecanismos da dor e do processo inflamatório, como a substância P. O objetivo desta revisão bibliográfica foi descrever como a acupuntura pode ser um recurso na terapia da DTUIF idiopática, tendo como base a modulação da inflamação neurogênica da bexiga urinária e o controle do estresse desses gatos.Several diseases may affect feline lower urinary tract, causing unspecific signs such as: hematuria, dysuria, pollakiuria, stranguria, periuria or urethral obstruction, which are clinically described as feline lower urinary tract disease (FLUTD. However, FLUTD is of unknown etiology in up to 65% cases, named as idiopathic feline lower urinary tract disease (idiopathic FLUTD, which is a challenge to veterinary, since there is nor diagnostic or effectiveness treatment available. Recently, many studies have evaluated the role of neurogenic inflammation related to stress as etiology factor to idiopathic FLUTD. There are scientific evidences that acupuncture recuperate homeostasis, reduce stress and, by peripheral

  10. PROFILEing idiopathic pulmonary fibrosis: rethinking biomarker discovery

    Directory of Open Access Journals (Sweden)

    Toby M. Maher

    2013-06-01

    Full Text Available Despite major advances in the understanding of the pathogenesis of idiopathic pulmonary fibrosis (IPF, diagnosis and management of the condition continue to pose significant challenges. Clinical management of IPF remains unsatisfactory due to limited availability of effective drug therapies, a lack of accurate indicators of disease progression, and an absence of simple short-term measures of therapeutic response. The identification of more accurate predictors of prognosis and survival in IPF would facilitate counseling of patients and their families, aid communication among clinicians, and would guide optimal timing of referral for transplantation. Improvements in molecular techniques have led to the identification of new disease pathways and a more targeted approach to the development of novel anti-fibrotic agents. However, despite an increased interest in biomarkers of IPF disease progression there are a lack of measures that can be used in early phase clinical trials. Careful longitudinal phenotyping of individuals with IPF together with the application of novel omics-based technology should provide important insights into disease pathogenesis and should address some of the major issues holding back drug development in IPF. The PROFILE (Prospective Observation of Fibrosis in the Lung Clinical Endpoints study is a currently enrolling, prospective cohort study designed to tackle these issues.

  11. Idiopathic inflammatory myopathies and the lung

    Directory of Open Access Journals (Sweden)

    Jean-Christophe Lega

    2015-06-01

    Full Text Available Idiopathic inflammatory myositis (IIM is a group of rare connective tissue diseases (CTDs characterised by muscular and extramuscular signs, in which lung involvement is a challenging issue. Interstitial lung disease (ILD is the hallmark of pulmonary involvement in IIM, and causes morbidity and mortality, resulting in an estimated excess mortality of 50% in some series. Except for inclusion body myositis, these extrapulmonary disorders are associated with the general and visceral involvement frequently found in other CTDs including fever, Raynaud's phenomenon, arthralgia, nonspecific cutaneous modifications and ILD, for which the prevalence is estimated to be up to 65%. Substantial heterogeneity exists within the spectrum of IIMs, and each condition is associated with various frequencies and subtypes of pulmonary involvement. This heterogeneity is partly related to the presence of various autoantibodies encompassing anti-synthetase, anti-MDA5 and anti-PM/Scl. ILD is present in all subsets of IIM including juvenile myositis, but is more frequent in dermatomyositis and overlap myositis. IIM can also be associated with other presentations of respiratory involvement, namely pulmonary arterial hypertension, pleural disease, infections, drug-induced toxicity, malignancy and respiratory muscle weakness. Here, we critically review the current knowledge about adult and juvenile myositis-associated lung disease with a detailed description of therapeutics for chronic and rapidly progressive ILD.

  12. Comparison of microbiological, histological, and immunomodulatory parameters in response to treatment with either combination therapy with prednisone and metronidazole or probiotic VSL#3 strains in dogs with idiopathic inflammatory bowel disease.

    Directory of Open Access Journals (Sweden)

    Giacomo Rossi

    Full Text Available BACKGROUND: Idiopathic inflammatory bowel disease (IBD is a common chronic enteropathy in dogs. There are no published studies regarding the use of probiotics in the treatment of canine IBD. The objectives were to compare responses to treatment with either combination therapy (prednisone and metronidazole or probiotic strains (VSL#3 in dogs with IBD. METHODOLOGY AND PRINCIPAL FINDINGS: Twenty pet dogs with a diagnosis of IBD, ten healthy pet dogs, and archived control intestinal tissues from three euthanized dogs were used in this open label study. Dogs with IBD were randomized to receive either probiotic (D-VSL#3, n = 10 or combination drug therapy (D-CT, n = 10. Dogs were monitored for 60 days (during treatment and re-evaluated 30 days after completing treatment. The CIBDAI (P<0.001, duodenal histology scores (P<0.001, and CD3+ cells decreased post-treatment in both treatment groups. FoxP3+ cells (p<0.002 increased in the D-VSL#3 group after treatment but not in the D-CT group. TGF-β+ cells increased in both groups after treatment (P = 0.0043 with the magnitude of this increase being significantly greater for dogs in the D-VSL#3 group compared to the D-CT group. Changes in apical junction complex molecules occludin and claudin-2 differed depending on treatment. Faecalibacterium and Turicibacter were significantly decreased in dogs with IBD at T0, with a significant increase in Faecalibacterium abundance observed in the animals treated with VSL#3 strains. CONCLUSIONS: A protective effect of VSL#3 strains was observed in dogs with IBD, with a significant decrease in clinical and histological scores and a decrease in CD3+ T-cell infiltration. Protection was associated with an enhancement of regulatory T-cell markers (FoxP3+ and TGF-β+, specifically observed in the probiotic-treated group and not in animals receiving combination therapy. A normalization of dysbiosis after long-term therapy was observed in the probiotic group. Larger

  13. Examination of chromosome 7p22 candidate genes RBaK, PMS2 and GNA12 in familial hyperaldosteronism type II.

    Science.gov (United States)

    Jeske, Y W A; So, A; Kelemen, L; Sukor, N; Willys, C; Bulmer, B; Gordon, R D; Duffy, D; Stowasser, M

    2008-04-01

    1. There are two types of familial hyperaldosteronism (FH): FH-I and FH-II. FH-I is caused by a hybrid CYP11B1/CYP11B2 gene mutation. The genetic cause of FH-II, which is more common, is unknown. Adrenal hyperplasia and adenomas are features. We previously reported linkage of FH-II to a approximately 5 Mb region on chromosome 7p22. We subsequently reported finding no causative mutations in the retinoblastoma-associated Kruppel-associated box gene (RBaK), a candidate at 7p22 involved in tumorigenesis and cell cycle control. 2. In the current study we investigated RBaK regulatory regions and two other candidate genes: postmeiotic segregation increased 2 (PMS2, involved in DNA mismatch repair and tumour predisposition) and guanine nucleotide-binding protein alpha-12 (GNA12, a transforming oncogene). 3. The GNA12 and PMS2 genes were examined in two affected (A1, A2) and two unaffected (U1, U2) subjects from a large 7p22-linked FH-II family (family 1). No mutations were found. 4. The RBaK and PMS2 distal promoters were sequenced to -2150 bp from the transcription start site for RBaK and-2800 bp for PMS2. Five unreported single nucleotide polymorphisms (SNPs) were found in subjects A1, A2 but not in U1 or U2; A(-2031 bp)T, T(-2030 bp)G, G(-834 bp)C, C(-821 bp)G in RBaK and A(-876 bp)G in PMS2. Additional affected and unaffected subjects from family 1 and from two other 7p22-linked FH-II families and 58 unrelated normotensive control subjects were genotyped for these SNPs. 5. The five novel SNPs were found to be present in a significant proportion of normotensive controls. The four RBaK promoter SNPs were found to be in linkage disequilibrium in the normal population. The RBaK promoter (-)2031T/2030G/834C/821T allele was found to be in linkage disequilibrium with the causative mutation in FH-II family 1, but not in families 2 and 3. The PMS2 promoter (-)876G allele was also found to be linked to affected phenotypes in family 1. 6. The RBaK and PMS2 promoter SNPs alter the

  14. Takayasu's disease and pregnancy

    African Journals Online (AJOL)

    basic disease appears to be unaffected by pregnancy. S Afr Med J ... Takayasu's disease is an idiopathic chronic granulomatous .... prevalence of tuberculosis in Asia." In our 3 .... lower limbs may be significantly lower than the central blood.

  15. Feline idiopathic hepatic lipidosis.

    Science.gov (United States)

    Dimski, D S; Taboada, J

    1995-03-01

    Feline IHL is a severe hepatopathy that can be treated by aggressive nutritional support. Until the underlying mechanisms of protein and lipid metabolism are understood in both healthy and ill cats, dietary therapy remains supportive. It is likely that the pathogenesis of IHL in cats is multifactorial, involving both increased fatty acid mobilization to the liver and a defect in oxidation of fatty acids or removal of VLDL. It is also possible that individual variation may play a role in the development of this disease in cats undergoing starvation. Continued studies will focus on the unique pathways of hepatic metabolism in the cat, and how these pathways are altered, leading to hepatic lipid accumulation and clinical disease. Hopefully, these studies can be applied to the prevention or treatment of IHL in cats.

  16. An unusual case of idiopathic multiple invasive cervical resorption

    Directory of Open Access Journals (Sweden)

    Sathya Prakash Reddy Kesary

    2014-01-01

    Full Text Available Invasive cervical resorption is a rare form of root resorption, characterized by destruction of the cervical region of teeth resulting from the action of tooth resorbing cells. Being an asymptomatic condition, it is often discovered on routine radiographic examination. This multifactorial disease process can most commonly occur as a sequel to orthodontic treatment, dental trauma, bleaching procedures, and less commonly, as an outcome of segmental orthognathic surgery, periodontal root planning, tetracycline conditioning of the root canal, bruxism, transplantation of tooth, guided tissue regeneration, cementoenamel disjunction. In the absence of these predisposing factors, it can be labeled as ′idiopathic multiple cervical resorption′. This article describes the case of a medically fit Indian male, who displayed idiopathic invasive cervical resorption in multiple teeth.

  17. [A case of cutaneous extramedullary hematopoiesis associated with idiopathic myelofibrosis].

    Science.gov (United States)

    Corella, F; Barnadas, M A; Bordes, R; Curell, R; Espinosa, I; Vergara, C; Alomar, A

    2008-05-01

    Cutaneous extramedullary hematopoiesis is a rare manifestation of chronic myeloproliferative processes, mainly chronic idiopathic myelofibrosis. In adults, it manifests as macules, papules, nodules, and ulcers on the trunk. The lesions usually appear soon after diagnosis and the possibility of a relationship between splenectomy and the appearance of extramedullary foci of hematopoiesis is still debated. Diagnosis is based on histopathology showing an infiltrate with different combinations of myeloid and erythroid cell precursors and megakaryocytes. Symptomatic treatment is provided alongside treatment of the underlying disease. We report a new case associated with chronic idiopathic myelofibrosis in which foci of cutaneous extramedullary hematopoiesis were observed 9 years after initial diagnosis. The lesions were progressive and the patient went on to develop acute myeloid leukemia.

  18. Fahr’s syndrome and idiopathic hypoparathyroidism: A case report

    Directory of Open Access Journals (Sweden)

    Marinković Dejan M.

    2017-01-01

    Full Text Available Introduction. Fahr´s syndrome is a rare, slowly progressive, neurodegenerative disorder, characterised by extensive, bilateral, and symmetrical basal ganglia calcification. It is associated with neuropsychiatric manifestations and gradually progressive cognitive impairment. Fahr's syndrome is the secondary form of brain calcification that is caused by various metabolic, infectious, or degenerative diseases. Case report. We presented a middle-aged male with Fahr's syndrome due to primary idiopathic hypoparathyroidism. Clinical diagnosis was based on signs and symptoms of hypocalcemia, progressive neuropsychiatric illnesses, laboratory evidence of hypoparathyroidism, and radiological signs of calcifications in the basal ganglia. The patient improved after only a few days of intravenous rehydration and calcium substitution, followed by oral supplemental calcitriol. Conclusion. Timely recognition of idiopathic and iatrogenic hypoparathyroidism allows appropriate treatment that can prevent the development and clinical manifestations of Fahr´s syndrome and potentially slow its progression.

  19. Idiopathic interstitial pneumonias. From classification to diagnostic work-up

    International Nuclear Information System (INIS)

    Mueller-Mang, C.; Bankier, A.; Stiebellehner, L.; Schmid, K.

    2007-01-01

    Idiopathic interstitial pneumonias (IIP) comprise seven entities with distinct histologic patterns. In their idiopathic form IIP are rare diseases. They are, nevertheless, considered prototypes of the much more common secondary interstitial pneumonias. The advent of high-resolution computed tomography (HRCT) has had a profound impact on the imaging of IIP, because the detailed delineation of the lung anatomy allows a close correlation between the histologic patterns of IIP and the CT features. On the basis of CT morphology and in the correct clinical context, the radiologist can achieve an accurate diagnosis in many cases. However, due to overlap between the various entities, complementary lung biopsy is recommended in virtually all cases. This article reviews the CT pattern of IIP and offers relevant clinical and histological information for the purpose of enabling the radiologist to understand and participate in the multidisciplinary concept of IIP. (orig.) [de

  20. Idiopathic granulomatous mastitis: in search of a therapeutic paradigm.

    Science.gov (United States)

    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.

  1. Allelic variation of the FRMD7 gene in congenital idiopathic nystagmus.

    Science.gov (United States)

    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.

  2. Idiopathic masseter muscle hypertrophy.

    Science.gov (United States)

    Kebede, Biruktawit; Megersa, Shimalis

    2011-11-01

    Benign Masseteric Hypertrophy is a relatively uncommon condition that can occur unilaterally or bilaterally. Pain may be a symptom, but most frequently a clinician is consulted for cosmetic reasons. In some cases prominent Exostoses at the angle of the mandible are noted. Although it is tempting to point to Malocclusion, Bruxism, clenching, or Temporomandibular joint disorders, the etiology in the majority of cases is unclear. Diagnosis is based on awareness of the condition, clinical and radiographic findings, and exclusion of more serious Pathology such as Benign and Malignant Parotid Disease, Rhabdomyoma, and Lymphangioma. Treatment usually involves resection of a portion of the Masseter muscle with or without the underlying bone.

  3. Mechanism of right thoracic adolescent idiopathic scoliosis at risk for progression; a unifying pathway of development by normal growth and imbalance

    DEFF Research Database (Denmark)

    Wong, Christian

    2015-01-01

    Adolescent idiopathic scoliosis is regarded as a multifactorial disease and none of the many suggested causal etiologies have yet prevailed. I will suggest that adolescent idiopathic scoliosis has one common denominator, namely that initial curve development is mediated through one common normal...

  4. Safety and efficacy of meningococcal c vaccination in juvenile idiopathic arthritis

    NARCIS (Netherlands)

    Zonneveld-Huijssoon, Evelien; Ronaghy, Arash; van Rossum, Marion A. J.; Rijkers, Ger T.; van der Klis, Fiona R. M.; Sanders, Elisabeth A. M.; Vermeer-de Bondt, Patricia E.; Hoes, Arno W.; van der Net, Jan Jaap; Engels, Carla; Kuis, Wietse; Prakken, Berent J.; van Tol, Maarten J. D.; Wulffraat, Nico M.

    2007-01-01

    To determine whether vaccinations aggravate the course of autoimmune diseases such as juvenile idiopathic arthritis (JIA) and whether the immune response to vaccinations may be hampered by immunosuppressive therapy for the underlying disease. In this multicenter cohort study, 234 patients with JIA

  5. Safety of measles, mumps and rubella vaccination in juvenile idiopathic arthritis

    NARCIS (Netherlands)

    Heijstek, Marloes W; Pileggi, Gecilmara C S; Zonneveld-Huijssoon, Evelien; Armbrust, Wineke; Hoppenreijs, Esther P A H; Uiterwaal, Cuno S P M; Kuis, Wietse; Wulffraat, Nico M

    2007-01-01

    Objective: To assess the effect of measles, mumps and rubella (MMR) vaccination on disease activity in children with juvenile idiopathic arthritis (JIA). Methods: A retrospective observational multicentre cohort study was performed in 314 patients with JIA, born between 1989 and 1996. Disease

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

    Science.gov (United States)

    Yamada, Shigeki; Ishikawa, Masatsune; Yamamoto, Kazuo

    2017-01-01

    disease progression were significantly different among the patients with adult-onset congenital NPH, idiopathic NPH and secondary NPH. This finding indicates that the pathogenesis of adult-onset congenital NPH may differ from those of idiopathic and secondary NPH. Therefore, adult-onset congenital NPH should be definitively distinguished from the categories of idiopathic and secondary NPH.

  7. [Juvenile idiopathic arthritis and oral health].

    Science.gov (United States)

    Kobus, Agnieszka; Kierklo, Anna; Sielicka, Danuta; Szajda, Sławomir Dariusz

    2016-05-04

    Juvenile idiopathic arthritis (JIA) is the most common autoimmune inflammatory disease of connective tissue in children. It is characterized by progressive joint destruction which causes preserved changes in the musculoskeletal system. The literature describes fully clinical symptoms and radiological images in different subtypes of JIA. However, there is still a limited number of studies reporting on the medical condition of the oral cavity of ill children. JIA can affect hard and soft tissues of the oral cavity by: the general condition of the child's health, arthritis of the upper limbs, as the result of the pharmacotherapy, changes in secretion and composition of saliva, inflammation of the temporomandibular joint and facial deformity. The study summarizes the available literature on the condition of the teeth and periodontal and oral hygiene in the course of JIA. The presence of diverse factors that modify the oral cavity, such as facial growth, functioning of salivary glands, or the supervision and care provided by adults, prevents clear identification if JIA leads to severe dental caries and periodontal disease. Despite conflicting results in studies concerning the clinical oral status, individuals with JIA require special attention regarding disease prevention and maintenance of oral health.

  8. Idiopathic non-cirrhotic portal hypertension

    Directory of Open Access Journals (Sweden)

    CHEN Jie

    2013-07-01

    Full Text Available The pathogenesis of idiopathic non-cirrhotic portal hypertension (INCPH remains unknown and the disease is diagnosed by the absence of recognized clinical indicators of cirrhosis and of any other known etiologies of portal hypertension. To promote understanding of this disease, a comprehensive overview of potential etiologies, clinical manifestations, histopathological features, methods of diagnosis and potential differential diagnoses, and outcome of clinical management is presented in this review. In particular, we discuss the findings from INCPH studies and their implications in regards to each of the above-mentioned categories. For example, associations with various comorbidities have suggested a possible immune system component to INCPH development and/or progression. In addition, the common clinical characteristics of patients upon presentation can not only help to recognize disease suspects but may also provide insights into the pathogenesis and prognosis. Finally, prognosis following the various intervention strategies appears to depend mainly on severity of the portal hypertension, as well as its various accompanying complications.

  9. Juvenile idiopathic arthritis-associated uveitis.

    Science.gov (United States)

    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.

  10. Lymphatics in lymphangioleiomyomatosis and idiopathic pulmonary fibrosis

    Directory of Open Access Journals (Sweden)

    Souheil El-Chemaly

    2012-09-01

    Full Text Available The primary function of the lymphatic system is absorbing and transporting macromolecules and immune cells to the general circulation, thereby regulating fluid, nutrient absorption and immune cell trafficking. Lymphangiogenesis plays an important role in tissue inflammation and tumour cell dissemination. Lymphatic involvement is seen in lymphangioleiomyomatosis (LAM and idiopathic pulmonary fibrosis (IPF. LAM, a disease primarily affecting females, involves the lung (cystic destruction, kidney (angiomyolipoma and axial lymphatics (adenopathy and lymphangioleiomyoma. LAM occurs sporadically or in association with tuberous sclerosis complex (TSC. Cystic lung destruction results from proliferation of LAM cells, which are abnormal smooth muscle-like cells with mutations in the TSC1 or TSC2 gene. Lymphatic abnormalities arise from infiltration of LAM cells into the lymphatic wall, leading to damage or obstruction of lymphatic vessels. Benign appearing LAM cells possess metastatic properties and are found in the blood and other body fluids. IPF is a progressive lung disease resulting from fibroblast proliferation and collagen deposition. Lymphangiogenesis is associated with pulmonary destruction and disease severity. A macrophage subset isolated from IPF bronchoalveolar lavage fluid (BALF express lymphatic endothelial cell markers in vitro, in contrast to the same macrophage subset from normal BALF. Herein, we review lymphatic involvement in LAM and IPF.

  11. Blood Biomarkers in Idiopathic Pulmonary Fibrosis.

    Science.gov (United States)

    Guiot, Julien; Moermans, Catherine; Henket, Monique; Corhay, Jean-Louis; Louis, Renaud

    2017-06-01

    Idiopathic pulmonary fibrosis (IPF) is a progressive and lethal lung disease of unknown origin whose incidence has been increasing over the latest decade partly as a consequence of population ageing. New anti-fibrotic therapy including pirfenidone and nintedanib have now proven efficacy in slowing down the disease. Nevertheless, diagnosis and follow-up of IPF remain challenging. This review examines the recent literature on potentially useful blood molecular and cellular biomarkers in IPF. Most of the proposed biomarkers belong to chemokines (IL-8, CCL18), proteases (MMP-1 and MMP-7), and growth factors (IGBPs) families. Circulating T cells and fibrocytes have also gained recent interest in that respect. Up to now, though several interesting candidates are profiling there has not been a single biomarker, which proved to be specific of the disease and predictive of the evolution (decline of pulmonary function test values, risk of acute exacerbation or mortality). Large scale multicentric studies are eagerly needed to confirm the utility of these biomarkers.

  12. Verbal fluency in idiopathic Parkinson's disease

    International Nuclear Information System (INIS)

    Thut, G.; Antonini, A.; Roelcke, U.; Missimer, J.; Maguire, R.P.; Leenders, K.L.; Regard, M.

    1997-01-01

    In the present study, the relationship between resting metabolism and verbal fluency, a correlate of frontal lobe cognition, was examined in 33 PD patients. We aimed to determine brain structures involved in frontal lobe cognitive impairment with special emphasis on differences between demented and non-demented PD patients. (author) 3 figs., 2 refs

  13. Recent advances in understanding idiopathic pulmonary fibrosis

    Science.gov (United States)

    Daccord, Cécile; Maher, Toby M.

    2016-01-01

    Despite major research efforts leading to the recent approval of pirfenidone and nintedanib, the dismal prognosis of idiopathic pulmonary fibrosis (IPF) remains unchanged. The elaboration of international diagnostic criteria and disease stratification models based on clinical, physiological, radiological, and histopathological features has improved the accuracy of IPF diagnosis and prediction of mortality risk. Nevertheless, given the marked heterogeneity in clinical phenotype and the considerable overlap of IPF with other fibrotic interstitial lung diseases (ILDs), about 10% of cases of pulmonary fibrosis remain unclassifiable. Moreover, currently available tools fail to detect early IPF, predict the highly variable course of the disease, and assess response to antifibrotic drugs. Recent advances in understanding the multiple interrelated pathogenic pathways underlying IPF have identified various molecular phenotypes resulting from complex interactions among genetic, epigenetic, transcriptional, post-transcriptional, metabolic, and environmental factors. These different disease endotypes appear to confer variable susceptibility to the condition, differing risks of rapid progression, and, possibly, altered responses to therapy. The development and validation of diagnostic and prognostic biomarkers are necessary to enable a more precise and earlier diagnosis of IPF and to improve prediction of future disease behaviour. The availability of approved antifibrotic therapies together with potential new drugs currently under evaluation also highlights the need for biomarkers able to predict and assess treatment responsiveness, thereby allowing individualised treatment based on risk of progression and drug response. This approach of disease stratification and personalised medicine is already used in the routine management of many cancers and provides a potential road map for guiding clinical care in IPF. PMID:27303645

  14. Aspectos físicos e mentais na qualidade de vida de pacientes com doença de Parkinson idiopática Physical and mental aspects in quality of life of idiopathic Parkinson disease patients

    Directory of Open Access Journals (Sweden)

    Gustavo Christofoletti

    2009-03-01

    two groups: Parkinson group (n=21, made up of individuals with idiopathic PD; and control group (n=19, of subjects with no neurodegenerative disorder. Data were collected by means of the Brazilian version of the Short Form-36 (SF-36 questionnaire. Data were statistically analysed and the significance level set at 1%. PD group subjects had SF-36 scores significantly lower than control ones, both in physical and mental health domains. Such low, perceived health-related quality of life among PD subjects is probably due to the co-occurrence of the neurodegenerative phenomena and the psychological distress provoked both by the disease itself and the stigma assigned to it. Interdisciplinary approaches should be encouraged to improve the quality of life of PD patients, aiming at postponing the physical and mental decline inherent to this degenerative condition.

  15. Idiopathic granulomatous mastitis: a case report of breast abscess.

    Science.gov (United States)

    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.

  16. Physiotherapy in pauciarticular juvenile idiopathic arthritis. Case study.

    Science.gov (United States)

    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.

  17. Imaging in juvenile idiopathic arthritis with a focus on ultrasonography

    DEFF Research Database (Denmark)

    Laurell, Louise; Court-Payen, Michel; Boesen, Mikael

    2013-01-01

    Early therapeutic intervention and use of new highly efficacious treatments have improved the outcome in many patients with juvenile idiopathic arthritis (JIA), but have also led to the need for more precise methods to evaluate disease activity. In adult rheumatology, numerous studies have...... US studies have been conducted. Sonographic assessment of disease activity has, however, been proven to be more informative than clinical examination and is also readily available at points of care. This review summarises the literature on imaging in JIA, focusing on US and the important role...

  18. A new direction in the pathogenesis of idiopathic pulmonary fibrosis?

    Directory of Open Access Journals (Sweden)

    Kolb Martin

    2002-01-01

    Full Text Available Abstract A recent review article suggested that idiopathic pulmonary fibrosis (IPF is a disease that is associated more with abnormal wound healing than with inflammation. Data derived from transgenic and gene transfer rodent models suggest that lung inflammation may be a necessary but insufficient component of IPF, and that at some point in the natural history of the disease IPF becomes no longer dependent on the inflammatory response for propagation. Altered microenvironment and involvement of epithelial cell/mesenchymal cell interaction are the most likely contributors to the pathogenesis of this chronic progressive disorder.

  19. The changing treatment landscape in idiopathic pulmonary fibrosis

    Directory of Open Access Journals (Sweden)

    Ulrich Costabel

    2015-03-01

    Full Text Available Idiopathic pulmonary fibrosis (IPF is a chronic, progressive and irreversible fibrotic disease of the lung that has greatly frustrated clinicians for a long time. The prognosis of IPF (median survival 2–5 years following diagnosis is poorer than that of some cancers and for many years no significant advances were made in its management. However, between 2011 and 2014 a number of pivotal developments were made that have improved the outlook for patients with IPF. Herein, we review this rapidly changing landscape, discussing key events whilst still acknowledging that IPF remains a challenging disease to diagnose and manage.

  20. MRI findings of muscle involvement in idiopathic hypereosinophilic syndrome

    International Nuclear Information System (INIS)

    Hundt, W.; Staebler, A.; Reiser, M.

    1999-01-01

    A 40-year-old white man presented with fever, muscle pain, skin nodules and persistent hypereosinophilia over a period of 1 year. In addition, he had ventricular arrhythmias with episodes of tachycardia. Besides a lack of response to antiparasitic therapy, laboratory and pathological data excluded the diagnosis of trichinosis or any other parasitic infection. The patient's course of the disease over the previous 1 1 / 2 years was compatible with hypereosinophilic syndrome. In a muscle biopsy several eosinophilic perivascular and leucocytic intravascular infiltrates were found, indicative of muscle involvement by the disease. This is a report on the MRI findings of muscle involvement in idiopathic hypereosinophilic syndrome. (orig.)

  1. Idiopathic thrombocytopenic purpura during pregnancy

    Directory of Open Access Journals (Sweden)

    Tânia Regina Padovani

    2012-04-01

    Full Text Available ABSTRACT This essay is based on a medical case of idiopathic thrombocytopenic purpura (ITP during pregnancy. The cause of ITP is unknown, who suffer from this disorder, generate antibodies that destroy thrombocytes from their blood. ITP affects women of childbearing age and is associated to maternal and fetal complications. The management of a pregnant patient is difficult and requires the combined care of an obstetrician, a hematologist, and a neonatologist. The main therapeutic options for ITP in pregnant women include glucocorticoids and intravenous immunoglobulin. Splenectomy may be (performed in refractory cases. There is no concerning the management and treatment of pregnant women.

  2. Wind turbines and idiopathic symptoms

    DEFF Research Database (Denmark)

    Blanes-Vidal, Victoria; Schwartz, Joel

    2016-01-01

    Whether or not wind turbines pose a risk to human health is a matter of heated debate. Personal reactions to other environmental exposures occurring in the same settings as wind turbines may be responsible of the reported symptoms. However, these have not been accounted for in previous studies. We...... investigated whether there is an association between residential proximity to wind turbines and idiopathic symptoms, after controlling for personal reactions to other environmental co-exposures. We assessed wind turbine exposures in 454 residences as the distance to the closest wind turbine (Dw) and number...... of wind turbines

  3. Idiopathic hypertrophic subaortic stenosis. I

    International Nuclear Information System (INIS)

    Kvam, G.

    1980-01-01

    Biplane left ventricular cineangiographies in 4 patients with typical obstructive idiopathic hypertrophic subaortic stenosis (IHSS) and in control patients with normal left ventricles were analysed. In the protruding hypertrophic muscular interventricular septum of IHSS a markedly reduced shortening occurs in either direction during the systolic contraction. It does not bend towards the right ventricle. It is suggested that the septum of IHSS acts as a suspender during the systolic contraction, thereby accounting for the fast stroke volume ejection and the high ejection fraction of IHSS. (Auth.)

  4. Idiopathic Transverse Myelitis and Neuromyelitis Optica: Clinical Profiles, Pathophysiology and Therapeutic Choices

    Science.gov (United States)

    Awad, Amer; Stüve, Olaf

    2011-01-01

    Transverse myelitis is a focal inflammatory disorder of the spinal cord which may arise due to different etiologies. Transverse myelitis may be idiopathic or related/secondary to other diseases including infections, connective tissue disorders and other autoimmune diseases. It may be also associated with optic neuritis (neuromyelitis optica), which may precede transverse myelitis. In this manuscript we review the pathophysiology of different types of transverse myelitis and neuromyelitis optica and discuss diagnostic criteria for idiopathic transverse myelitis and risk of development of multiple sclerosis after an episode of transverse myelitis. We also discuss treatment options including corticosteroids, immunosuppressives and monoclonal antibodies, plasma exchange and intravenous immunoglobulins. PMID:22379456

  5. Progressive multifocal leucoencephalopathy in a patient with idiopathic CD4+ lymphocytopenia.

    LENUS (Irish Health Repository)

    Moloney, F

    2012-03-01

    Progressive multifocal leucoencephalopathy (PML) is an opportunistic, demyelinating neurological disease caused by reactivation of the JC polyomavirus. PML occurs almost exclusively in immunosuppressed individuals, with only isolated case reports of PML occurring in patients without apparent immunosuppression. Idiopathic CD4+ lymohocytopenia (ICL) is a syndrome defined by the Centre for Disease Control and Prevention as a CD4+ count <300 cells\\/uL or <20% of total T cell count on >1 occasion, with no evidence of human immunodeficiency virus (HIV) infection, and the absence of other known immunodeficiency or therapy associated with lymphocytopenia. We describe a case of PML occurring in a patient with idiopathic CD4+ lymphocytopenia.

  6. Idiopathic Chronic Parotitis: Imaging Findings and Sialendoscopic Response.

    Science.gov (United States)

    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.

  7. Clinical and Biochemical Characteristics of Children with Juvenile Idiopathic Arthritis

    International Nuclear Information System (INIS)

    Ahmed, S.; Ali, S. R.; Ishaque, S.

    2014-01-01

    Objective: To determine the clinical and biochemical characteristics of children with Juvenile Idiopathic Arthritis (JIA) at a tertiary care centre in Karachi, Pakistan. Study Design: A descriptive study. Place and Duration of Study: Paediatric Rheumatology Clinic of The Aga Khan University Hospital (AKUH), Karachi, from January 2008 to December 2011. Methodology: Clinical and laboratory profile and outcome of children less than 15 years of age attending the Paediatric Rheumatology Clinic of the Aga Khan University, Karachi with the diagnosis of Juvenile Idiopathic Arthritis according to International League against Rheumatism were studied. These children were classified into different types of JIA; their clinical and laboratory characteristics, response to therapy and outcome was evaluated. Results: Sixty eight patients satisfying the criteria of International League against Rheumatism (ILAR) for Juvenile Idiopathic Arthritis were enrolled during the study period of four consecutive years, their age ranged from 9 months to 15 years. Mean age at onset was 6.45 +- 4.03 years while mean age at diagnosis was 7.60 +- 3.93 years. Polyarticular was the most predominant subtype with 37 (54%) patients, out of these, 9 (24%) were rheumatoid factor positive. An almost equal gender predisposition was observed. Fever and arthritis were the most common presenting symptoms, with only 2 patients presenting with uveitis. Conclusion: The clinico-biochemical characteristics of JIA at the study centre showed a pattern distinct with early onset of disease, high frequency of polyarticular type and a higher rheumatoid factor (QRA) and ANA positivity in girls. (author)

  8. Idiopathic pulmonary fibrosis misdiagnosed as sputum-negative pulmonary tuberculosis.

    Science.gov (United States)

    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.

  9. Idiopathic focal epilepsies: the "lost tribe".

    Science.gov (United States)

    Pal, Deb K; Ferrie, Colin; Addis, Laura; Akiyama, Tomoyuki; Capovilla, Giuseppe; Caraballo, Roberto; de Saint-Martin, Anne; Fejerman, Natalio; Guerrini, Renzo; Hamandi, Khalid; Helbig, Ingo; Ioannides, Andreas A; Kobayashi, Katsuhiro; Lal, Dennis; Lesca, Gaetan; Muhle, Hiltrud; Neubauer, Bernd A; Pisano, Tiziana; Rudolf, Gabrielle; Seegmuller, Caroline; Shibata, Takashi; Smith, Anna; Striano, Pasquale; Strug, Lisa J; Szepetowski, Pierre; Valeta, Thalia; Yoshinaga, Harumi; Koutroumanidis, Michalis

    2016-09-01

    epigenetic factors involved that might also explain low observed twin concordance? The genetic (and epigenetic) models for different IFEs, their comorbidities, and their similarities to other neurodevelopmental disorders deserve investigation in the coming years. In so doing, we will probably learn much about normal brain functioning. This is because these disorders, perhaps more than any other human brain disease, are disorders of functional brain systems (even though these functional networks may not yet be fully defined). In June 2012, an international group of clinical and basic science researchers met in London under the auspices of the Waterloo Foundation to discuss and debate these issues in relation to IFEs. This Waterloo Foundation Symposium on the Idiopathic Focal Epilepsies: Phenotype to Genotype witnessed presentations that explored the clinical phenomenology, phenotypes and endophenotypes, and genetic approaches to investigation of these disorders. In parallel, the impact of these epilepsies on children and their families was reviewed. The papers in this supplement are based upon these presentations. They represent an updated state-of-the-art thinking on the topics explored. The symposium led to the formation of international working groups under the umbrella of "Luke's Idiopathic Focal Epilepsy Project" to investigate various aspects of the idiopathic focal epilepsies including: semiology and classification, genetics, cognition, sleep, high-frequency oscillations, and parental resources (see www.childhood-epilepsy.org). The next sponsored international workshop, in June 2014, was on randomised controlled trials in IFEs and overnight learning outcome measures.

  10. Time course of recovery of idiopathic vocal fold paralysis.

    Science.gov (United States)

    Husain, Solomon; Sadoughi, Babak; Mor, Niv; Levin, Ariana M; Sulica, Lucian

    2018-01-01

    To clarify the time course of recovery in patients with idiopathic vocal fold paralysis. Retrospective chart review. Medical records for all patients with idiopathic vocal fold paralysis over a 10-year period were reviewed to obtain demographic and clinical information, including onset of disease and recovery of vocal function. Stroboscopic exams of patients who recovered voice were reviewed blindly to assess return of vocal fold motion. Thirty-eight of 55 patients (69%) recovered vocal function. Time course of recovery could be assessed in 34 patients who did not undergo injection augmentation. The mean time to recovery was 152.8 ± 109.3 days (left, 179.8 ± 111.3 days; right, 105.3 ± 93.7 days; P = .088). Two-thirds of patients recovered within 6 months. Probability of recovery declined over time. Five of 22 patients who recovered voice had return of vocal fold motion; 17 did not. The mean time to recovery did not differ between these groups (return of motion, 127.4 ± 132.3 days; no return of motion, 160.1 ± 105.1 days; P = .290). Sixty-nine percent of patients with idiopathic vocal fold paralysis recovered vocal function, two-thirds doing so within 6 months of onset. Age, gender, laterality, use of injection augmentation did not influence recovery rate. Declining probability of recovery over time leads us to consider framework surgery after 6 months in patients with idiopathic paralysis. 4. Laryngoscope, 128:148-152, 2018. © 2017 The American Laryngological, Rhinological and Otological Society, Inc.

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

    Science.gov (United States)

    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.

  12. Prevalência da doença do refluxo gastroesofágico em pacientes com fibrose pulmonar idiopática Prevalence of gastroesophageal reflux disease in patients with idiopathic pulmonary fibrosis

    Directory of Open Access Journals (Sweden)

    Cristiane Dupont Bandeira

    2009-12-01

    Full Text Available OBJETIVO: Determinar a prevalência da doença do refluxo gastroesofágico (DRGE e sua apresentação clínica, além do perfil funcional do esôfago em pacientes com fibrose pulmonar idiopática (FPI. MÉTODOS: Foram avaliados prospectivamente 28 pacientes com FPI. Os pacientes foram submetidos à esofagomanometria estacionária, pHmetria de 24 h e testes de função pulmonar, assim como responderam a questionários sobre sintomas e qualidade de vida em DRGE. RESULTADOS: A prevalência de DRGE foi de 35,7%. Os pacientes foram divididos em dois grupos: grupo DRGE+ (pHmetria anormal; n = 10, e grupo DRGE- (pHmetria normal; n = 18. No grupo DRGE+, 77,7% dos pacientes apresentavam pelo menos um sintoma típico de DRGE. Nesse grupo de pacientes, 8 (80% apresentaram refluxo em posição supina, e 5 (50% apresentaram refluxo exclusivamente nessa posição. Nos grupos DRGE+ e DRGE-, respectivamente, 5 (50,0% e 7 (38,8% dos pacientes apresentaram hipotonia do esfíncter esofágico inferior, assim como 7 (70,0% e 10 (55,5% apresentaram hipomotilidade esofágica. Não houve diferenças significativas entre os grupos quanto a características demográficas, função pulmonar, apresentação clínica ou achados manométricos. CONCLUSÕES: A prevalência de DRGE nos pacientes comOBJECTIVE: To determine the prevalence of gastroesophageal reflux disease (GERD and to evaluate its clinical presentation, as well as the esophageal function profile in patients with idiopathic pulmonary fibrosis (IPF. METHODS: In this prospective study, 28 consecutive patients with IPF underwent stationary esophageal manometry, 24-h esophageal pH-metry and pulmonary function tests. All patients also completed a symptom and quality of life in GERD questionnaire. RESULTS: In the study sample, the prevalence of GERD was 35.7%. The patients were then divided into two groups: GERD+ (abnormal pH-metry; n = 10 and GERD- (normal pH-metry; n = 18. In the GERD+ group, 77.7% of the patients

  13. Diagnosis and management of idiopathic pulmonary fibrosis: French practical guidelines

    Directory of Open Access Journals (Sweden)

    Bruno Crestani

    2014-06-01

    Full Text Available Idiopathic pulmonary fibrosis (IPF is the most frequent chronic idiopathic interstitial pneumonia in adults. The management of rare diseases in France has been organised by a national plan for rare diseases, which endorsed a network of expert centres for rare diseases throughout France. This article is an overview of the executive summary of the French guidelines for the management of IPF, an initiative that emanated from the French National Reference Centre and the Network of Regional Competence Centres for Rare Lung Diseases. This review aims at providing pulmonologists with a document that: 1 combines the current available evidence; 2 reviews practical modalities of diagnosis and management of IPF; and 3 is adapted to everyday medical practice. The French practical guidelines result from the combined efforts of a coordination committee, a writing committee and a multidisciplinary review panel, following recommendations from the Haute Autorité de Santé. All recommendations included in this article received at least 90% agreement by the reviewing panel. Herein, we summarise the main conclusions and practical recommendations of the French guidelines.

  14. Cough in idiopathic pulmonary fibrosis

    Directory of Open Access Journals (Sweden)

    Mirjam J.G. van Manen

    2016-09-01

    Full Text Available Many patients with idiopathic pulmonary fibrosis (IPF complain of chronic refractory cough. Chronic cough is a distressing and disabling symptom with a major impact on quality of life. During recent years, progress has been made in gaining insight into the pathogenesis of cough in IPF, which is most probably “multifactorial” and influenced by mechanical, biochemical and neurosensory changes, with an important role for comorbidities as well. Clinical trials of cough treatment in IPF are emerging, and cough is increasingly included as a secondary end-point in trials assessing new compounds for IPF. It is important that such studies include adequate end-points to assess cough both objectively and subjectively. This article summarises the latest insights into chronic cough in IPF. It describes the different theories regarding the pathophysiology of cough, reviews the different methods to assess cough and deals with recent and future developments in the treatment of cough in IPF.

  15. Genetics Home Reference: idiopathic inflammatory myopathy

    Science.gov (United States)

    ... stumble while walking and find it difficult to grasp items. As in dermatomyositis and polymyositis, swallowing can ... and development? More about Mutations and Health Inheritance Pattern Most cases of idiopathic inflammatory myopathy are sporadic, ...

  16. Uveitis associated with juvenile idiopathic arthritis.

    Science.gov (United States)

    Sen, Ethan S; Dick, Andrew D; Ramanan, Athimalaipet V

    2015-06-01

    Uveitis is a potentially sight-threatening complication of juvenile idiopathic arthritis (JIA). JIA-associated uveitis is recognized to have an autoimmune aetiology characterized by activation of CD4(+) T cells, but the underlying mechanisms might overlap with those of autoinflammatory conditions involving activation of innate immunity. As no animal model recapitulates all the features of JIA-associated uveitis, questions remain regarding its pathogenesis. The most common form of JIA-associated uveitis is chronic anterior uveitis, which is usually asymptomatic initially. Effective screening is, therefore, essential to detect early disease and commence treatment before the development of visually disabling complications, such as cataracts, glaucoma, band keratopathy and cystoid macular oedema. Complications can result from uncontrolled intraocular inflammation as well as from its treatment, particularly prolonged use of high-dose topical corticosteroids. Accumulating evidence supports the early introduction of systemic immunosuppressive drugs, such as methotrexate, as steroid-sparing agents. Prospective randomized controlled trials of TNF inhibitors and other biologic therapies are underway or planned. Future research should aim to identify biomarkers to predict which children are at high risk of developing JIA-associated uveitis or have a poor prognosis. Such biomarkers could help to ensure that patients receive earlier interventions and more-potent therapy, with the ultimate aim of reducing loss of vision and ocular morbidity.

  17. Mineralogical microanalysis of idiopathic pulmonary fibrosis

    International Nuclear Information System (INIS)

    Monso, E.; Tura, J.M.; Marsal, M.; Morell, F.; Pujadas, J.; Morera, J.

    1990-01-01

    A mineralogical analysis of lung tissue was conducted on 25 samples from patients who had been diagnosed as having idiopathic pulmonary fibrosis (IPF). Scanning electron microscopy (SEM) at low magnification and energy-dispersive x-ray analysis (EDXA) was used. In all samples, the surface silicon/sulfur (Si/S) ratio was calculated. The Si/S ratio for 25 samples of normal lung and 6 samples of pneumoconiotic lung was also determined (upper limit of normal Si/S ratio = 0.3). The difference between the Si/S ratio in the group with IPF and group with normal lung tissue was significantly significant (p less than .007, Wilcoxon test). Six of 12 patients with a previous diagnosis of IPF and a Si/S ratio greater than 0.3 had an exposure history that could imply inhalation of silica/silicates, and the correct diagnosis for these patients is most probably pneumoconiosis. The silica/silicate deposits detected in patients with IPF, and who had a ratio and no past exposure to dusts, could be either a cause or an effect of the disease

  18. Idiopathic Granulomatous Mastitis Associated with Erythema Nodosum

    Directory of Open Access Journals (Sweden)

    Tuğba Özlem Kalaycı

    2016-04-01

    Full Text Available Background: Idiopathic granulomatous mastitis (IGM is an uncommon benign chronic inflammatory breast disease, and erythema nodosum (EN is an extremely rare systemic manifestation of IGM. Here, we report a rare case of IGM accompanied by EN. Case Report: A 32-year-old patient was admitted to our clinic with a history of a tender mass in the right breast. On physical examination, the right breast contained a hard, tender mass in the lower half with in-drawing of the nipple. She had florid EN affecting both legs. She was evaluated with mammography, ultrasound, power Doppler ultrasound, non-enhancing magnetic resonance imaging (MRI, dynamic contrast-enhanced MRI, fine needle aspiration biopsy (FNAB and excisional biopsy. Time-intensity curves showed a type II pattern on dynamic contrast-enhanced MRI, which has an intermediate probability for malignancy. The FNAB reported a benign cytology suggestive of a granulomatous inflammation, which was also supported by the histopathological findings. A partial mastectomy was performed following medical treatment. There was no recurrence at 1-year follow-up. Conclusion: IGM should be considered in the differential diagnosis of EN. Although histopathological examination remains the only method for the definite diagnosis of IGM, MRI can be helpful in the diagnosis or differentiation of benign lesions from malignant ones.

  19. Outcomes of Noninvasively Treated Idiopathic Toe Walkers.

    Science.gov (United States)

    Radtke, Kerstin; Karch, Nataliia; Goede, Fabian; Vaske, Bernhard; von Lewinski, Gabriela; Noll, Yvonne; Thren, Anneke

    2018-03-01

    Idiopathic toe walking (ITW) causes a common problem in pediatric orthopaedics. In the literature, numerous treatment options have been reported, but consensus about the management of ITW is still missing. The aim of the current study was to evaluate conservative treatment with pyramidal insoles. A total of 193 patients underwent conservative treatment between January 2010 and June 2013. Mean age at the beginning of the treatment was 7.75 ± 0.23 years (range 2.0-17.0 years). For all patients, demographic data, comorbid diseases, passive range of motion (ROM), persistent toe walking, and performed operations were retrospectively evaluated. Following operative treatment was defined failure. Eight (4.15%) patients underwent Achilles tendon lengthening operation after mean therapy time of 2.72 years (range 0.1-7.0 years), 174 cases were treated successfully (90.16%). In 50 cases, toe walking suspended completely after mean therapy time of 2.83 years. In cases of failure, patients were older at diagnosis and at the beginning of the treatment. Mean passive ROM increased over the time. In cases of failure, ROM decreased from the first to the second examination. Conservative treatment of ITW using pyramidal insoles can be effective. Ankle dorsiflexion significantly improved in the patients who were successfully treated. Therapy should start early. A decrease of ROM under therapy should lead to critical revisal of individual therapy. Therapeutic, level IV: Case series.

  20. The knee in diffuse idiopathic skeletal hyperostosis

    International Nuclear Information System (INIS)

    Orzincolo, C.; Scutellari, P.N.; Aiello, N.; Trotta, F.

    1987-01-01

    Diffuse idiopathic skeletal hyperostosis (DISH) is a disorder characterized by bone proliferation of spinal and extraspinal structures. Frequently, extraspinal manifestations may occur before the involvement of the spine. These alterations are so common and characteristc that they should be included in diagnostic criteria for DISH. The patella is one of the most commonly involved sites. The knee of 48 patients affected by DISH, according to Resnick's diagnostic criteria, were subjected to systematic, radiographic and xerographic studies. The most characteristic radiographic patterns are: thickening of the anterior margin of the patella (81.1%); ossifying enthesopathy of supero-anterior margin of patella (68.7%); periosteal new bone formation on the tibial insertion of the cruciateligaments (47.8%); presence of fabella (41%); presence of megafabella (22.9%), which may come near the posterior profile of the femur. Changes are usually symmetrical in DISH: entheseal abnormalities mostly involve the antero-superior margin of the patella, whereas in osteoarthritis, osteophytes are found on the postero-superior margin. In the lateral view enthesophytes at the bone attachment of the cruciate ligaments are oriented inside the joint space; on the contrary, osteophytes are always oriented outside the joint space. Radiographic manifestations of the fabella are similar to those observed in osteoarthritis, and so they cannot be utilized in the differential diagnosis of these diseases

  1. Mineralogical microanalysis of idiopathic pulmonary fibrosis

    Energy Technology Data Exchange (ETDEWEB)

    Monso, E.; Tura, J.M.; Marsal, M.; Morell, F.; Pujadas, J.; Morera, J. (Hospital Germans Trias i Pujol, Badalona (Spain))

    1990-05-01

    A mineralogical analysis of lung tissue was conducted on 25 samples from patients who had been diagnosed as having idiopathic pulmonary fibrosis (IPF). Scanning electron microscopy (SEM) at low magnification and energy-dispersive x-ray analysis (EDXA) was used. In all samples, the surface silicon/sulfur (Si/S) ratio was calculated. The Si/S ratio for 25 samples of normal lung and 6 samples of pneumoconiotic lung was also determined (upper limit of normal Si/S ratio = 0.3). The difference between the Si/S ratio in the group with IPF and group with normal lung tissue was significantly significant (p less than .007, Wilcoxon test). Six of 12 patients with a previous diagnosis of IPF and a Si/S ratio greater than 0.3 had an exposure history that could imply inhalation of silica/silicates, and the correct diagnosis for these patients is most probably pneumoconiosis. The silica/silicate deposits detected in patients with IPF, and who had a ratio and no past exposure to dusts, could be either a cause or an effect of the disease.

  2. Family history of idiopathic REM behavior disorder

    DEFF Research Database (Denmark)

    Dauvilliers, Yves; Postuma, Ronald B; Ferini-Strambi, Luigi

    2013-01-01

    To compare the frequency of proxy-reported REM sleep behavior disorder (RBD) among relatives of patients with polysomnogram-diagnosed idiopathic RBD (iRBD) in comparison to controls using a large multicenter clinic-based cohort.......To compare the frequency of proxy-reported REM sleep behavior disorder (RBD) among relatives of patients with polysomnogram-diagnosed idiopathic RBD (iRBD) in comparison to controls using a large multicenter clinic-based cohort....

  3. Relieving idiopathic dental pain without drugs

    Directory of Open Access Journals (Sweden)

    Haryono Utomo

    2011-06-01

    Full Text Available Background: Teeth are commonly obvious source of orofacial pain. Sometimes the pain source is undetectable, thus called as idiopathic dental pain. Since dentist wants to alleviate or eliminate the pains with every effort in their mind, a lot of drugs could be prescribed. Moreover, it is make sense that endodontic treatment or even tooth extraction will be done. Unfortunately, endodontic treatment may also initiate neuropathic tooth pain that is caused by nerve extirpation, thus worsen the pain. Therefore, another cause of dental pain such as referred pain, periodontal disease, or stress which related to psychoneuroimmunology should be considered. In order to prevent from unnecessary drugs or invasive treatment such as root canal treatment and extraction, correct diagnosis and preliminary non-invasive therapies should be done. Purpose: This review elucidates several therapies that could be done by dentists for relieving idiopathic dental pain which includes massage, the “assisted drainage” therapy, modulation of psychoneuroimmunologic status and dietary omega-3. Reviews: Understanding the basic pathogenesis of pain may help in elucidating the effects of non-drug pain therapy such as muscle massage, the “assisted drainage” therapy, omega-3 and psychological stress relieving. These measures are accounted for eliminating referred pain, reducing proinflammatory mediators and relieving unwanted stress reactions consecutively. Psychological stress increases proinflammatory cytokines and thus lowered pain threshold. Conclusion: As an individual treatment, this non-drug therapy is useful in relieving idiopathic dental pain; nevertheless, if they work together the result could be more superior.Latar belakang: Gigi adalah suatu penyebab umum dari nyeri orofasial. Kadang kala penyebab nyeri tidak dapat ditemukan, sehingga disebut sebagai nyeri gigi idiopatik. Karena dokter gigi berupaya untuk mengurangi atau menghilangkan nyeri dengan segala cara

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

    Science.gov (United States)

    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).

  5. Idiopathic pulmonary fibrosis in a Staffordshire bull terrier with hypothyroidism.

    Science.gov (United States)

    Corcoran, B M; Dukes-McEwan, J; Rhind, S; French, A

    1999-04-01

    Radiographic evidence of chronic interstitial lung changes, usually believed to be attributable to lung fibrosis, is readily recognised in canine practice. Furthermore, there is a body of anecdotal evidence suggesting that a specific clinical entity consistent with chronic lung fibrosis occurs in specific breeds of terrier dogs. However, there is little pathological data to confirm these radiographic and clinical findings and, therefore, chronic interstitial lung disease of dogs is poorly characterised. In this report, a case of chronic pulmonary fibrosis is described in which histopathological confirmation was possible, and suggested that the condition might be analogous to idiopathic pulmonary fibrosis (cryptogenic fibrosing alveolitis) in humans.

  6. Gastroesophageal reflux and idiopathic pulmonary fibrosis: A long term relationship

    Directory of Open Access Journals (Sweden)

    Karthik Gnanapandithan

    2016-01-01

    Full Text Available Idiopathic pulmonary fibrosis (IPF is a dreaded disease of uncertain etiology and no available cure. It is still unclear if a causal relationship exists between gastro-esophageal reflux (GER and IPF, but studies have shown an increased prevalence of acid reflux in patients with IPF. We describe a patient with achalasia and GER who went on to develop IPF. She underwent a rapidly worsening course punctuated by acute exacerbations of IPF, despite best efforts to manage the acid GER. We also reviewed the literature on the role of GER in the etiology and progression of IPF and the impact of antireflux measures on its course.

  7. Idiopathic fibrosing pancreatitis: a rare cause of chronic obstructive jaundice in childhood

    International Nuclear Information System (INIS)

    Park, Hye Seong; Kim, Hyun Sook; Kim, Hack Hee; Kim, Ok Hwa; Kim, Choon Yul; Bahk, Yong Whee

    1992-01-01

    We report a 14-months-old infant who had obstructive jaundice caused by idiopathic fibrosing pancreatitis. Ultrasonography and abdominal computed tomography showed dilatation of the intrahepatic ducts, common bile duct, and the pancreatic duct. Diffuse swelling of the pancreas was also noted on CT. At laparotomy, the head portion of the pancreas revealed a stony hard consistency, and proliferation of fibrotic tissue was confirmed pathologically. Idiopathic fibrosing pancreatitis is a very rare disease entity in childhood, but should be considered in the differential diagnosis of obstructive jaundice in children who demonstrate bile duct and pancreatic duct dilatation and/or diffuse pancreas swelling

  8. Clinical Case of Tocilizumab Use in a Patient with Systemic Juvenile Idiopathic Arthritis

    Directory of Open Access Journals (Sweden)

    Y. M. Spivakovskiy

    2015-01-01

    Full Text Available The article presents a case of using genetically engineered biopharmaceutical tocilizumab in a child with systemic juvenile idiopathic arthritis. On the initial stage, the treatment was characterized by resistance to high doses of glucocorticoids and cytostatic drugs. Successful termination of visceral and articular manifestations of systemic juvenile idiopathic arthritis and normalization of laboratory indicators of disease activity in the setting of use of interleukin 6 receptor blocker were described. We observed stable improvement of the child’s condition during a year-long follow-up in the setting of the selected anti-inflammatory therapy pattern. 

  9. Extrastriatal monoaminergic dysfunction and enhanced microglial activation in idiopathic rapid eye movement sleep behaviour disorder

    DEFF Research Database (Denmark)

    Stokholm, Morten Gersel; Iranzo, Alex; Østergaard, Karen

    2018-01-01

    BACKGROUND: The majority of patients diagnosed with idiopathic rapid eye movement sleep behaviour disorder (iRBD) progress over time to a Lewy-type α-synucleinopathy such as Parkinson's disease or dementia with Lewy bodies. This in vivo molecular imaging study aimed to investigate if extrastriatal...

  10. Periodontal and hematological characteristics associated with aggressive periodontitis, juvenile idiopathic arthritis, and rheumatoid arthritis

    DEFF Research Database (Denmark)

    Poulsen, Anne Havemose; Westergaard, Jytte; Stoltze, Kaj

    2006-01-01

    Periodontitis shares several clinical and pathogenic characteristics with chronic arthritis, and there is some degree of coexistence. The aims of this study were to elucidate whether patients with localized aggressive periodontitis (LAgP), generalized aggressive periodontitis (GAgP), juvenile...... idiopathic arthritis (JIA), and rheumatoid arthritis (RA) share periodontal and hematological characteristics distinguishing them from individuals free of diseases....

  11. Idiopathic pulmonary fibrosis: current understanding of the pathogenesis and the status of treatment

    OpenAIRE

    Khalil, Nasreen; O'Connor, Robert

    2004-01-01

    IDIOPATHIC PULMONARY FIBROSIS (IPF) is a progressive and lethal pulmonary fibrotic lung disease. The diagnostic histological changes are called usual interstitial pneumonia and are characterized by histological temporal heterogeneity, whereby normal lung tissue is interspersed with interstitial fibrosis, honeycomb cysts and fibroblast foci. Pulmonary functions show restricted volumes and capacities, preserved flows and evidence of decreased gas exchange. High-resolution computed axial tomogra...

  12. Variability of diagnostic criteria and treatment of idiopathic nephrotic syndrome across European countries

    NARCIS (Netherlands)

    Deschênes, Georges; Vivarelli, Marina; Peruzzi, Licia; Alpay, H.; Alvaro Madrid, A.; Andersen, R.; Bald, M.; Benetti, E.; Berard, E.; Bockenhauer, D.; Boyer, O.; Brackman, D.; Dossier, C.; Ekinci, Z.; Emma, F.; Enneman, B.; Espinosa-Roman, L.; Fila, M.; Ghio, L.; Groothoff, J. W.; Guigonis, V.; Jankauskiene, A.; Kagan, M.; Kovacevic, M.; Kemper, M. J.; Levtchenko, E.; Maringhini, S.; Mir, S.; Mitsioni, A.; Mizerska-Wasiak, M.; Wasiak, K.; Moczulska, A.; Montini, G.; Murer, L.; Nuutinen, M.; Obukhova, V.; Oh, J.; Ozkaya, O.; Papalia, T.; Peco Antic, A.; Pecoraro, C.; Pena-Carrion, A.; Petrossian, E.; Pietrement, C.; Prikhodina, L.; Querfeld, U.; Rittig, S.; Saleem, M. A.; Saraga, M.; Savenkova, N.

    2017-01-01

    The aim of the surveys conducted by the Idiopathic Nephrotic Syndrome Working Group of the ESPN was to study the possible variability of treatment in Europe at different stages of the disease by means of questionnaires sent to members of the Working Group. Four surveys have been completed: treatment

  13. IDENTIFICATION AND CHARACTERIZATION OF AN IDIOPATHIC PULMONARY FIBROSIS-LIKE CONDITION IN CATS

    Science.gov (United States)

    Interstitial lung diseases are a heterogeneous group of disorders due to a variety of causes. In veterinary medicine, those with a prominent fibrotic component of unknown etiology are often called idiopathic pulmonary fibrosis (IPF). In human medicine, this term is reserved for ...

  14. Fibrillar collagen I matrix remodelling in idiopathic pulmonary fibrosis: Are lysyl oxidases responsible?

    NARCIS (Netherlands)

    Tjin, G.; Jegathees, T.; Mahar, A.; Kable, E.P.W.; Burgess, J.K.

    2015-01-01

    Rationale: The development of fibrosis in Idiopathic Pulmonary Fibrosis (IPF) is a key feature and challenge in the treatment of the disease. The mechanisms of collagen I (COL1) reorganisation in the development of fibrosis, which may alter the stiffness of the tissue, are not well understood.

  15. Potential novel targets: Protease-activated receptors in idiopathic pulmonary fibrosis

    NARCIS (Netherlands)

    Lin, C.

    2015-01-01

    Idiopathic pulmonary fibrosis (IPF) is the most devastating diffuse fibrosing lung disease of unknown etiology. IPF patients suffer from severe breathlessness caused by decreasing lung compliance eventually leading to respiratory failure and death. The prognosis of IPF is devastating: there is only

  16. Targeting coagulation factor receptors - protease-activated receptors in idiopathic pulmonary fibrosis

    NARCIS (Netherlands)

    Lin, C.; Borensztajn, K.; Spek, C. A.

    2017-01-01

    Idiopathic pulmonary fibrosis (IPF) is a lethal lung disease with a 5-year mortality rate of > 50% and unknown etiology. Treatment options remain limited and, currently, only two drugs are available, i.e. nintedanib and pirfenidone. However, both of these antifibrotic agents only slow down the

  17. Combination therapy of the plaque form of Weber–Christian idiopathic panniculitis

    Directory of Open Access Journals (Sweden)

    O. N. Egorova

    2012-01-01

    Full Text Available Panniculitides are a group of heterogenic inflammatory diseases that involve the subcutaneous fat. Treatment for panniculitides, idiopathic ones in particular, has not been conclusively developed and is generally performed empirically. The paper describes a case successfully treated with glucocorticosteroids in combination with azathioprine for the plaque form of Weber–Christian panniculitis.

  18. Determinants of 6-minute walk distance in patients with idiopathic pulmonary fibrosis undergoing lung transplant evaluation.

    Science.gov (United States)

    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.

  19. The classification, natural history and radiological/histological appearance of idiopathic pulmonary fibrosis and the other idiopathic interstitial pneumonias

    Directory of Open Access Journals (Sweden)

    G. Raghu

    2008-12-01

    Full Text Available The idiopathic interstitial pneumonias (IIPs are a heterogeneous group of rare interstitial lung diseases (ILDs or diffuse parenchymal lung diseases, which, as their name implies, are of unknown aetiology. The past 10 yrs have seen important advances in the classification of the IIPs into idiopathic pulmonary fibrosis (IPF and its corresponding histopathological pattern of usual interstitial pneumonia (UIP, plus six non-IPF IIP subtypes. The present article will look at the current classification of IIPs, arising from the Consensus Statement of the American Thoracic Society and European Respiratory Society, and discusses the importance of differential diagnosis of IPF from the non-IPF IIP subtypes, especially nonspecific interstitial pneumonia. Diagnosis of IIPs is a dynamic process involving close collaboration between pulmonologists, radiologists and pathologists. Increasingly accurate diagnosis of IPF has been made possible by the use of high-resolution computed tomography (HRCT and refinements in surgical lung biopsy. In IPF, a lung HRCT will typically reveal irregular reticular opacities, traction bronchiestasis and, most importantly, peripheral honeycombing. In contrast, histological examination shows evidence of UIP manifesting as typically subpleural and paraseptal established fibrosis, often with honeycomb changes, associated with mild chronic inflammation and varying numbers of fibroblastic foci in continuity with the edges of areas of established fibrosis. Despite these advances, obtaining a consistent and uniform diagnosis of idiopathic interstitial pneumonias is difficult, with studies showing significant disagreement in the diagnosis of interstitial lung diseases between academic centres of expertise and community-based clinicians. Greater interaction between academic and community clinicians, together with improved education, is needed to bridge this gap.

  20. Idiopathic Gingival Fibromatosis Rehabilitation: A Case Report with Two-Year Followup

    Directory of Open Access Journals (Sweden)

    Mahesh Jayachandran

    2013-01-01

    Full Text Available 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.

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

    Science.gov (United States)

    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.

  2. [Insight into the training of patients with idiopathic inflammatory myopathy].

    Science.gov (United States)

    Váncsa, Andrea

    2016-09-01

    Using current recommended treatment, a majority of patients with idiopathic inflammatory myopathy develop muscle impairment and poor health. Beneficial effects of exercise have been reported on muscle performance, aerobic capacity and health in chronic polymyositis and dermatomyositis, as well as in active disease and inclusion body myositis to some extent. Importantly, randomized controlled trials indicate that improved health and decreased clinical disease activity could be mediated through increased aerobic capacity. Recently, reports seeking pathomechanisms of the underlying effects of exercise on skeletal muscle indicate increased aerobic capacity (i.e. increased mitochondrial capacity and capillary density, reduced lactate levels), activation of genes of aerobic phenotype and muscle growth programs and down regulation of genes related to inflammation. Exercise contributes to both systemic and within-muscle adaptations demonstrating that it is fundamental for improving muscle performance and health in patients with idiopathic inflammatory myopathy. There is a need for randomized controlled trials to study the effects of exercise in patients with active disease and inclusion body myositis. Orv. Hetil., 2016, 157(39), 1557-1562.

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

    Science.gov (United States)

    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.

  4. A systematic review of the effectiveness of strategies for reducing fracture risk in children with juvenile idiopathic arthritis with additional data on long-term risk of fracture and cost of disease management.

    Science.gov (United States)

    Thornton, J; Ashcroft, D; O'Neill, T; Elliott, R; Adams, J; Roberts, C; Rooney, M; Symmons, D

    2008-03-01

    To review outcome measures and treatment costs in children with juvenile idiopathic arthritis (JIA) and low bone mineral density (BMD) and/or fragility fractures. To review evidence for effectiveness and safety of bisphosphonates and calcium and/or vitamin D in these children. To assess long-term bone health in adults with JIA. Major databases were searched up to July 2005 for effectiveness studies and up to January 2005 for costs. A structured search strategy was conducted. For the evaluation of long-term bone health, outcome data were derived from two cohorts of adult patients with JIA. As there were few published cost data, an ongoing UK longitudinal study (CAPS) provided background data on the cost of managing JIA. Sixteen studies (78 children with JIA) were included. At baseline, the children had BMD below the expected values for age- and sex-matched children; treatment with bisphosphonates increased BMD with mean percentage increases in spine BMD varying from 4.5 to 19.1%. None of the studies with control groups compared results between the intervention and control groups, they only compared each group with its own baseline. Overall, studies were heterogeneous in design, of variable quality and with no consistency in methods of assessing and reporting outcomes. Hence, data could not be combined or an effect size calculated. A further 43 papers were included in the safety review; side-effects were generally transient. Two studies assessed treatment with calcium and/or vitamin D; BMD was increased from 0.75 to 0.830 g/cm2 after 6 months and BMD Z-score from -2.8 to -2.3 after 6 months and -2.4 after 1 year. There are relatively few long-term studies on the occurrence of low BMD and fragility fractures in children with JIA, with most studies only following children for 1 or 2 years. However, the long- and short-term data indicate that children with JIA have a lower BMD and more fractures than children without JIA. There are very few data on long-term bone health

  5. Nonmotor symptoms in genetic Parkinson disease

    DEFF Research Database (Denmark)

    Kasten, Meike; Kertelge, Lena; Brüggemann, Norbert

    2010-01-01

    To review current knowledge on nonmotor symptoms (NMS), particularly psychiatric features, in genetic Parkinson disease (PD) and to provide original data for genetic and idiopathic PD.......To review current knowledge on nonmotor symptoms (NMS), particularly psychiatric features, in genetic Parkinson disease (PD) and to provide original data for genetic and idiopathic PD....

  6. Idiopathic Gingival Fibromatosis: Case Report and Its Management

    Directory of Open Access Journals (Sweden)

    Prashant P. Jaju

    2009-01-01

    Full Text Available Idiopathic gingival fibromatosis is a rare condition. We present a case of idiopathic gingival fibromatosis with its multidisciplinary approach of management. The clinical, radiographic, and histopathological features have been described in detail.

  7. Juvenile idiopathic arthritis – an update on its diagnosis and ...

    African Journals Online (AJOL)

    2015-12-03

    Dec 3, 2015 ... Juvenile idiopathic arthritis (JIA) is the most common form of chronic arthritis in children and the most ... A swollen knee and uveitis in a young girl, for instance, is ..... Methotrexate for treating juvenile idiopathic arthritis.

  8. Mitochondria in the spotlight of aging and idiopathic pulmonary fibrosis

    Science.gov (United States)

    Mora, Ana L.; Rojas, Mauricio

    2017-01-01

    Idiopathic pulmonary fibrosis (IPF) is a chronic age-related lung disease with high mortality that is characterized by abnormal scarring of the lung parenchyma. There has been a recent attempt to define the age-associated changes predisposing individuals to develop IPF. Age-related perturbations that are increasingly found in epithelial cells and fibroblasts from IPF lungs compared with age-matched cells from normal lungs include defective autophagy, telomere attrition, altered proteostasis, and cell senescence. These divergent processes seem to converge in mitochondrial dysfunction and metabolic distress, which potentiate maladaptation to stress and susceptibility to age-related diseases such as IPF. Therapeutic approaches that target aging processes may be beneficial for halting the progression of disease and improving quality of life in IPF patients. PMID:28145905

  9. Yellow Fever Vaccine in Patients With Rheumatic Diseases

    Science.gov (United States)

    2018-04-05

    Systemic Lupus; Rheumatoid Arthritis; Spondyloarthritis; Inflammatory Myopathy; Systemic Sclerosis; Mixed Connective Tissue Disease; Takayasu Arteritis; Granulomatosis With Polyangiitis; Sjogren's Syndrome; Juvenile Idiopathic Arthritis; Juvenile Dermatomyositis

  10. Pneumothorax and idiopathic pulmonary fibrosis

    International Nuclear Information System (INIS)

    Iwasawa, Tae; Ogura, Takashi; Takahashi, Hiroshi; Asakura, Akira; Gotoh, Toshiyuki; Yazawa, Takuya; Inoue, Tomio

    2010-01-01

    We evaluated the relation between the severity of idiopathic pulmonary fibrosis (IPF) and the incidence of pneumothorax on computed tomography (CT) images. In this retrospective study, we evaluated the presence of pneumothorax in 56 consecutive patients who died of IPF from the initial CT to death. We quantitatively analyzed a total of 207 CT images and measured the volume of the normal pattern (N-pattern) and each lesion pattern on the initial CT and their serial changes. The effects of pneumothorax and clinical and CT features on survival were evaluated using Cox regression analysis. Pneumothorax occurred in 17 of 56 patients. Comparison of the pneumothorax (+) and (-) groups showed the initial vital capacity (VC) was lower (P=0.005) and the follow-up period was shorter (P=0.03) in the former group. The decrease in the N-pattern volume in the pneumothorax (+) group was significantly faster than in the pneumothorax (-) group (P=0.013). Cox regression analyses identified a rapid decrease in N-pattern volume (P=0.008) and a rapid decrease in VC (P=0.002), but not pneumothorax, as significant predictors of poor survival. Pneumothorax in IPF patients is associated with lower VC and rapid deterioration of CT findings. The findings suggest that pneumothorax is a complication of advanced IPF. (author)

  11. Telltale teeth: Idiopathic Hypergonadotropic Hypogonadism

    Directory of Open Access Journals (Sweden)

    G S Lele

    2014-01-01

    Full Text Available 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. Case Description: 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.

  12. [Idiopathic sudden deafness: a report of 96 patients].

    Science.gov (United States)

    Gabanou, F; Bera, G; Vincent, C

    2012-01-01

    Evaluation of the management of idiopathic sudden deafness indicating the usefulness of biological assessments and the pronostic factors of hearing recovery. This is a retrospective study of 96 patients with idiopathic sudden deafness referred to a tertiary centre between 2005 and 2009 treated with corticosteroids intravenously at a daily dose of 1 mg/kg. Mean tonal thresholds were assessed (PTA = [500 Hz + 1000 Hz + 2000 Hz + 4000 Hz]/4). Each audiogram was classified as five classes according to its frequency profile. The hearing recovery is significant between D0-D5 and D5-M1 for the frequencies 0.5, 1 and 2 kHz. For 4 kHz, the recovery is significant between 0 and J5. There is no statistically significant correlation between the presence of associated signs (tinnitus, vertigo) and hearing recovery. Hearing recovery according to the five types of audiograms has the same evolution in the follow-up time but with audiograms type E (cophosis or subcophosis) often associated with an hyporeactivity at the videonystagmography. The presence of cardiovascular disease is a predictor of poor hearing recovery. The usefullness of systematic extensive blood tests is low. In sudden deafness, the maximum hearing recovery takes place in the month following the onset of symptoms. The predictors of poor hearing recovery are an initial mean threshold > 70 dB, the existence of an associated cardiovascular disease.

  13. Quality of life in patients with an idiopathic rapid eye movement sleep behaviour disorder in Korea.

    Science.gov (United States)

    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 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.

  14. Detection of equine herpesvirus in horses with idiopathic keratoconjunctivitis and comparison of three sampling techniques.

    Science.gov (United States)

    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.

  15. The myositis autoantibody phenotypes of the juvenile idiopathic inflammatory myopathies.

    Science.gov (United States)

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

    2013-07-01

    The juvenile idiopathic inflammatory myopathies (JIIM) are systemic autoimmune diseases characterized by skeletal muscle weakness, characteristic rashes, and other systemic features. In follow-up to our study defining the major clinical subgroup phenotypes of JIIM, we compared demographics, clinical features, laboratory measures, and outcomes among myositis-specific autoantibody (MSA) subgroups, as well as with published data on adult idiopathic inflammatory myopathy patients enrolled in a separate natural history study. In the present study, of 430 patients enrolled in a nationwide registry study who had serum tested for myositis autoantibodies, 374 had either a single specific MSA (n = 253) or no identified MSA (n = 121) and were the subject of the present report. Following univariate analysis, we used random forest classification and exact logistic regression modeling to compare autoantibody subgroups. Anti-p155/140 autoantibodies were the most frequent subgroup, present in 32% of patients with juvenile dermatomyositis (JDM) or overlap myositis with JDM, followed by anti-MJ autoantibodies, which were seen in 20% of JIIM patients, primarily in JDM. Other MSAs, including anti-synthetase, anti-signal recognition particle (SRP), and anti-Mi-2, were present in only 10% of JIIM patients. Features that characterized the anti-p155/140 autoantibody subgroup included Gottron papules, malar rash, "shawl-sign" rash, photosensitivity, cuticular overgrowth, lowest creatine kinase (CK) levels, and a predominantly chronic illness course. The features that differed for patients with anti-MJ antibodies included muscle cramps, dysphonia, intermediate CK levels, a high frequency of hospitalization, and a monocyclic disease course. Patients with anti-synthetase antibodies had higher frequencies of interstitial lung disease, arthralgia, and "mechanic's hands," and had an older age at diagnosis. The anti-SRP group, which had exclusively juvenile polymyositis, was characterized by high

  16. Total fertilization failure and idiopathic subfertility

    Directory of Open Access Journals (Sweden)

    Goverde Angelique J

    2009-01-01

    Full Text Available Abstract Background To gain more insight in whether failure of intrauterine insemination (IUI treatment in patients with idiopathic subfertility could be related to diminished fertilization, the aim of this study is to compare the fertilization of an initial IVF procedure after six cycles of IUI and the fertilization of an initial IVF procedure without preceding IUI cycles in couples with idiopathic subfertility. Methods We performed a complimentary analysis of a randomized controlled trial, in which the number of total fertilization failure (TFF in the first IVF procedure after unsuccessful IUI was compared to those of IVF without preceding IUI in patients with idiopathic subfertility. These patients participated in a previous study that assessed the cost effectiveness of IUI versus IVF in idiopathic subfertility and were randomized to either IUI or IVF treatment. Results 45 patients underwent IVF after 6 cycles of unsuccessful IUI and 58 patients underwent IVF immediately without preceding IUI. In 7 patients the IVF treatment was cancelled before ovum pick. In the IVF after unsuccessful IUI group TFF was seen in 2 of the 39 patients (5% versus 7 of the 56 patients (13% in the immediate IVF group. After correction for confounding factors the TFF rate was not significantly different between the two groups (p = 0.08, OR 7.4; 95% CI: 0.5–14.9. Conclusion Our data showed that TFF and the fertilization rate in the first IVF treatment were not significantly different between couples with idiopathic subfertility undergoing IVF after failure of IUI versus those couples undergoing IVF immediately without prior IUI treatment. Apparently, impaired fertilization does not play a significant role in the success rate of IUI in patients with idiopathic subfertility.

  17. A systematic approach for the diagnosis and treatment of idiopathic peptic ulcers

    Science.gov (United States)

    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

  18. Management strategies for idiopathic urethritis.

    Science.gov (United States)

    Henderson, L; Farrelly, P; Dickson, A P; Goyal, A

    2016-02-01

    Williams and Mikhael (1971) described idiopathic urethritis (IU) as a self-limiting condition that affects boys aged 5-15 years, with symptoms of urethrorrhagia, dysuria and haematuria. However, a proportion of boys will remain symptomatic for several years, and may develop urethral stricture (Poch et al., 2007; Palagiri et al., 2003). There is no universally effective treatment for IU, although various strategies have been employed. To review the presentation and long-term outcomes of boys with IU, and present the efficacy of management strategies that have been utilised. A retrospective review was performed of all boys with IU. It was based on clinical and cystoscopic findings for presentation, medical history, management and clinical progress. Fifty-four boys were included, with a median age of 11 years (range 5-15 years) at presentation. The median duration of symptoms was 18 months (range 2-132 months). The median follow-up was 18.5 months (range 1-120 months). Seven (13.0%) boys had early urethral stricture at initial cystourethroscopy, and one (1.9%) developed stricture during follow-up. Thirty-six boys (66.7%) had previous circumcision and four (7.4%) had meatal stenosis. Eight (14.8%) had previous hypospadias repair. Whilst 50% of boys with IU do not require any specific treatment, those with severe/unremitting symptoms may benefit from a trial of urethral steroids or short-term urethral catheterisation. The mechanisms of benefit from these modalities are unclear and they require further evaluation. Copyright © 2015 Journal of Pediatric Urology Company. Published by Elsevier Ltd. All rights reserved.

  19. Idiopathic thoracic transdural intravertebral spinal cord herniation

    Directory of Open Access Journals (Sweden)

    Mazda K Turel

    2017-01-01

    Full Text Available 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.

  20. Pituitary Adenoma and Hyperprolactinemia Accompanied by Idiopathic Granulomatous Mastitis

    Directory of Open Access Journals (Sweden)

    Sebahattin Destek

    2017-01-01

    Full Text Available Idiopathic granulomatous mastitis (IGM is a rare chronic inflammatory disease of the breast, and its etiology remains not fully elucidated. IGM is observed more often in patients with autoimmune disease. Hyperprolactinemia is observed during pregnancy, lactation, and a history of oral contraceptive use. A 39-year-old patient with no history of oral contraceptive use presented with complaints such as redness, pain, and swelling in her left breast. Ultrasound and magnetic resonance imaging (MRI revealed a suspicious inflamed mass lesion. Core biopsy was performed to exclude breast cancer and to further diagnose. The breast abscess was drained and steroids were given for treatment. In order to monitor any progression during the three months of treatment, hormone levels were routinely examined. Prolactin level was above the reference range, and pituitary MRI revealed a pituitary prolactinoma. After treatment with prolactin inhibitors, IGM also improved with hyperprolactinemia. This report emphasizes attention to hyperprolactinemia in cases of IGM diagnosis and treatment.

  1. Update on the medical treatment of juvenile idiopathic arthritis.

    Science.gov (United States)

    Hashkes, Philip J; Laxer, Ronald M

    2006-12-01

    Many exciting developments in the treatment of juvenile idiopathic arthritis (JIA) have emerged recently, including new tools to assess the results of clinical trials (eg, the definition of remission and a radiologic scoring tool). New controlled studies examined the equivalence of meloxicam to naproxen, the efficacy of leflunomide but the superiority of methotrexate, and the use of infliximab in polyarthritis JIA. Initial studies have shown the potential of anti-interleukin (IL)-1 and anti-IL-6 receptor antibody therapy for systemic JIA. Corticosteroid-sparing medications including the use of "biologic modifiers" for JIA-associated uveitis have been described. Evidence-based guidelines for the main subtypes of JIA have been published. However, good evidence on the treatment of several disease subtypes is still lacking. Studies of new medications and the use of combination therapy, including aggressive induction therapy early in the disease course, are necessary to continue improving the outcome of JIA patients.

  2. Quantitation of abnormal Ga-67 uptake in idiopathic pulmonary fibrosis

    International Nuclear Information System (INIS)

    O'Donnell, J.K.; Golish, J.A.; Cordasco, E.M.; Go, R.T.; Feiglin, D.H.; MacIntyre, W.J.

    1987-01-01

    Gallium-67 is useful in differentiating active pneumonitis from the underlying changes of diffuse idiopathic pulmonary fibrosis (IPF), especially when advanced disease precludes detection of subtle radiographic changes. Diffuse Ga-67 uptake, however, is often difficult to estimate. For 22 patients with IPF, they employed both emission tomography (SPECT) of the thorax and a modified Ga-67 index technique for digital planar images basing lung regions on Tc-99m MAA outlines and background on thigh soft-tissue activity. The degree of abnormal Ga-67 uptake measured by these techniques correlated closely with disease activity by all clinical criteria. Repeat studies for six patients after steroid therapy paralleled clinical response (4+/2-)

  3. Diffuse idiopathic pulmonary neuroendocrine cell hyperplasia: Report of two cases.

    Science.gov (United States)

    García-Fontán, Eva; Blanco Ramos, Montserrat; García, Jose Soro; Carrasco, Rommel; Cañizares, Miguel Ángel; González Piñeiro, Ana

    2018-05-19

    Diffuse idiopathic pulmonary neuroendocrine cell hyperplasia (DIPNECH) is a rare disorder characterized by a proliferation of neuroendocrine cells within the lung. It is classically described as a disease with persistent cough, dyspnea and wheezing in non-smoker middle aged females. CT of the chest reveals diffuse air trapping with mosaic pattern. We present two cases of DIPNECH that were sent to our department to perform a lung biopsy with the diagnostic suspicion of diffuse interstitial disease. Both cases were women with a history of chronic cough and moderate effort dyspnea. The aim of this paper is that physicians take into account this diagnostic entity before treating as an asthmatic a patient with these characteristics, not forgetting that they are prenoplastic lesions. Copyright © 2018 Elsevier España, S.L.U. All rights reserved.

  4. MRI findings of muscle involvement in idiopathic hypereosinophilic syndrome

    Energy Technology Data Exchange (ETDEWEB)

    Hundt, W.; Staebler, A.; Reiser, M. [Department of Diagnostic Radiology, Klinikum Grosshadern, Muenchen (Germany)

    1999-04-01

    A 40-year-old white man presented with fever, muscle pain, skin nodules and persistent hypereosinophilia over a period of 1 year. In addition, he had ventricular arrhythmias with episodes of tachycardia. Besides a lack of response to antiparasitic therapy, laboratory and pathological data excluded the diagnosis of trichinosis or any other parasitic infection. The patient`s course of the disease over the previous 1{sup 1}/{sub 2} years was compatible with hypereosinophilic syndrome. In a muscle biopsy several eosinophilic perivascular and leucocytic intravascular infiltrates were found, indicative of muscle involvement by the disease. This is a report on the MRI findings of muscle involvement in idiopathic hypereosinophilic syndrome. (orig.) With 3 figs., 25 refs.

  5. Comorbid Conditions in Idiopathic Pulmonary Fibrosis: Recognition and Management

    Directory of Open Access Journals (Sweden)

    Justin M. Oldham

    2017-08-01

    Full Text Available Idiopathic pulmonary fibrosis (IPF, a fibrosing interstitial pneumonia of unknown etiology, primarily affects older adults and leads to a progressive decline in lung function and quality of life. With a median survival of 3–5 years, IPF is the most common and deadly of the idiopathic interstitial pneumonias. Despite the poor survivorship, there exists substantial variation in disease progression, making accurate prognostication difficult. Lung transplantation remains the sole curative intervention in IPF, but two anti-fibrotic therapies were recently shown to slow pulmonary function decline and are now approved for the treatment of IPF in many countries around the world. While the approval of these therapies represents an important first step in combatting of this devastating disease, a comprehensive approach to diagnosing and treating patients with IPF remains critically important. Included in this comprehensive assessment is the recognition and appropriate management of comorbid conditions. Though IPF is characterized by single organ involvement, many comorbid conditions occur within other organ systems. Common cardiovascular processes include coronary artery disease and pulmonary hypertension (PH, while gastroesophageal reflux and hiatal hernia are the most commonly encountered gastrointestinal disorders. Hematologic abnormalities appear to place patients with IPF at increased risk of venous thromboembolism, while diabetes mellitus (DM and hypothyroidism are prevalent metabolic disorders. Several pulmonary comorbidities have also been linked to IPF, and include emphysema, lung cancer, and obstructive sleep apnea. While the treatment of some comorbid conditions, such as CAD, DM, and hypothyroidism is recommended irrespective of IPF, the benefit of treating others, such as gastroesophageal reflux and PH, remains unclear. In this review, we highlight common comorbid conditions encountered in IPF, discuss disease-specific diagnostic

  6. Ongoing search for diagnostic biomarkers in idiopathic normal pressure hydrocephalus.

    Science.gov (United States)

    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.

  7. Histopathological patterns in paediatric idiopathic steroid resistant nephrotic syndrome

    International Nuclear Information System (INIS)

    Shah, S.S.H.; Akhtar, N.; Rehman, M.F.U.; Sunbleen, F.; Ahmed, T.

    2015-01-01

    Background: 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. Method: 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. Results: There were a total of 96 patients, 64 (66.7 percentage) males and 32 (33.3 percentage) 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 percentage) cases followed by Focal segmental glomerulosclerosis (FSGS) in 9 (9.4 percentage) patients while Minimal change disease (MCD) was seen in 5 (5.2 percentage) subjects. Conclusion: Mesangioproliferative glomerulonephritis is the most common histological pattern seen in children presenting with idiopathic SRNS at our centre followed by FSGS and MCD. (author)

  8. Primary Idiopathic Osteoarthropathy: Could It Be Related to Alcoholism?

    Directory of Open Access Journals (Sweden)

    Yanal Alnimer

    2017-01-01

    Full Text Available Background. Hypertrophic osteoarthropathy (HOA is a syndrome characterized by abnormal proliferation of the skin and bony structures at the distal extremities resulting in digital clubbing, periosteal bony reaction, and joint effusion. It can be primary (idiopathic without any clear identifiable etiology as well as secondary to variety of systemic diseases most notably lung pathology. Case Presentation. We describe a rare case of primary idiopathic osteoarthropathy in a male patient who presented with severe pain and tenderness in his legs. His history was significant for long standing alcoholism. Physical examination showed severe fingers and toes clubbing. He reported similar changes in his mother. Clinical and radiological findings were remarkable for distal leg tenderness and diffuse periosteal bony reactions, respectively. Computerized tomography scan failed to show any pathology apart from fatty liver infiltration. In the absence of obesity or diabetes, this was consistent with alcoholic steatosis. He was started on nonsteroidal anti-inflammatory drug which dramatically improved his symptoms. Conclusion. Primary hypertrophic osteoarthropathy should be considered in a previously healthy person presenting with bony pain and finger clubbing especially after ruling out the common secondary causes. Moreover, alteration of prostaglandin metabolism secondary to alcoholic consumption might be a contributing factor.

  9. Risk Factors for Neurodegeneration in Idiopathic REM sleep Behavior Disorder: A Multicenter Study

    Science.gov (United States)

    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, pconversion. 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

  10. Clinical characteristics in patients with asymmetric idiopathic pulmonary fibrosis.

    Science.gov (United States)

    Callahan, Sean J; Xia, Meng; Murray, Susan; Flaherty, Kevin R

    2016-10-01

    A group of patients with idiopathic pulmonary fibrosis (IPF) presents with disease affecting one lung markedly more than the other. At this time, it is unclear how this population differs from those who present with more symmetric disease. We sought to explain the characteristics of the asymmetric group and how their disease progresses. In this retrospective case-control study we accessed an interstitial lung disease (ILD) database and identified 14 asymmetric IPF cases via high-resolution computed tomography (HRCT) scoring of each lung lobe's disease severity. We identified 28 symmetric IPF controls from the same database using the same methods, and compared the clinical features of each group. Patients with asymmetric disease exhibited similar demographics as those in the general IPF population; they were predominantly male (64%), elderly (69 years old), and used tobacco (57%). We found a trend toward significantly increased all-cause mortality in the case population two years following diagnosis (p = 0.089). Pulmonary function tests were significantly lower in the case group at the time of diagnosis, then both groups experienced gradual decline. We found no statistically significant differences in number of IPF exacerbations (cases 43%, controls 39%, p = 0.824) and gastro-esophageal reflux (both groups 50%). Patients with asymmetric IPF resemble patients in the general IPF population but may have a lower overall survival rate. Further systemic factors may be studied to identify reasons for disease asymmetry and clinical decline in this population. Published by Elsevier Ltd.

  11. Exercises for adolescent idiopathic scoliosis.

    Science.gov (United States)

    Romano, Michele; Minozzi, Silvia; Bettany-Saltikov, Josette; Zaina, Fabio; Chockalingam, Nachiappan; Kotwicki, Tomasz; Maier-Hennes, Axel; Negrini, Stefano

    2012-08-15

    Adolescent idiopathic scoliosis (AIS) is a three-dimensional deformity of the spine . While AIS can progress during growth and cause a surface deformity, it is usually not symptomatic. However, in adulthood, if the final spinal curvature surpasses a certain critical threshold, the risk of health problems and curve progression is increased. The use of scoliosis-specific exercises (SSE) to reduce progression of AIS and postpone or avoid other more invasive treatments is controversial. To evaluate the efficacy of SSE in adolescent patients with AIS. The following databases (up to 30 March 2011) were searched with no language limitations: CENTRAL (The Cochrane Library 2011, issue 2), MEDLINE (from January 1966), EMBASE (from January 1980), CINHAL (from January 1982), SportDiscus (from January 1975), PsycInfo (from January 1887), PEDro (from January 1929). We screened reference lists of articles and also conducted an extensive handsearch of grey literature. Randomised controlled trials and prospective cohort studies with a control group comparing exercises with no treatment, other treatment, surgery, and different types of exercises. Two review authors independently selected studies, assessed risk of bias and extracted data. Two studies (154 participants) were included. There is low quality evidence from one randomised controlled study that exercises as an adjunctive to other conservative treatments increase the efficacy of these treatments (thoracic curve reduced: mean difference (MD) 9.00, (95% confidence interval (CI) 5.47 to 12.53); lumbar curve reduced:MD 8.00, (95% CI 5.08 to 10.92)). There is very low quality evidence from a prospective controlled cohort study that scoliosis-specific exercises structured within an exercise programme can reduce brace prescription (risk ratio (RR) 0.24, (95% CI 0.06 to1.04) as compared to usual physiotherapy (many different kinds of general exercises according to the preferences of the single therapists within different facilities

  12. Idiopathic intracranial hypertension: case report

    Directory of Open Access Journals (Sweden)

    Iacob G.

    2015-12-01

    Full Text Available Idiopathic intracranial hypertension - IIH (synonymous old terms: benign intracranial hypertension - BIH, pseudotumor-cerebri - PTC it’s a syndrome, related to elevated intracranial pressure, of unknown cause, sometimes cerebral emergency, occuring in all age groups, especially in children and young obese womans, in the absence of an underlying expansive intracranial lesion, despite extensive investigations. Although initial symptoms can resolve, IIH displays a high risk of recurrence several months or years later, even if initial symptoms resolved. Results: A 20-year-old male, obese since two years (body mass index 30, 9, was admitted for three months intense headache, vomiting, diplopia, progressive visual acuity loss. Neurologic examination confirmed diplopia by left abducens nerve palsy, papilledema right > left. At admission, cerebral CT scan and cerebral MRI with angio MRI 3DTOF and 2D venous TOF was normal. Despite treatment with acetazolamide (Diamox, corticosteroid, antidepressants (Amitriptyline, anticonvulsivants (Topiramate three weeks later headache, diplopia persist and vision become worse, confirmed by visual field assessment, visual evoked potential (VEP. A cerebral arteriography demonstrate filling defect of the superior sagittal sinus in the 1/3 proximal part and very week filling of the transverse right sinus on venous time. Trombophylic profile has revealed a heterozygote V factor Leyden mutation, a homozygote MTHFR and PAI mutation justifying an anticoagulant treatment initiated to the patient. The MRI showed a superior sagittal sinus, right transverse and sigmoid sinus thrombosis, dilatation and buckling of the optic nerve sheaths with increased perineural fluid especially retrobulbar, discrete flattening of the posterior segment of the eyeballs, spinal MRI showed posterior epidural space with dilated venous branches, with mass effect on the spinal cord, that occurs pushed anterior on sagittal T1/T2 sequences cervical and

  13. Idiopathic Thrombocytopenic Purpura Misdiagnosed as Hereditary Angioedema

    DEFF Research Database (Denmark)

    Andersen, Michelle Fog; Bygum, Anette

    2015-01-01

    however not always have to be caused by angioedema but can relate to other concomitant disorders. In this report we are focusing on misdiagnosis in a patient with known hereditary angioedema, whose bleeding episode caused by idiopathic thrombocytopenic purpura was mistaken for an acute attack...

  14. Idiopathic intracranial hypertension and transverse sinus stenoses

    DEFF Research Database (Denmark)

    Skyrman, Simon; Fytagoridis, Anders; Andresen, Morten

    2013-01-01

    An 18-year-old woman was diagnosed with idiopathic intracranial hypertension (IIH) and bilateral transverse sinus stenoses (TSS), after presenting with papilledema and decreased visual acuity. Lumbar puncture revealed an opening pressure of >60 cm H2O. MRI showed bilateral TSS believed to be asso...

  15. Exercise therapy in juvenile idiopathic arthritis

    NARCIS (Netherlands)

    Takken, T.; van Brussel, M.; Engelbert, R. H. H.; van der Net, J.; Kuis, W.; Helders, P. J. M.

    2008-01-01

    Exercise therapy is considered an important component of the treatment of arthritis. The efficacy of exercise therapy has been reviewed in adults with rheumatoid arthritis but not in children with juvenile idiopathic arthritis (JIA). To assess the effects of exercise therapy on functional ability,

  16. Idiopathic trigeminal neuropathy in a poodle

    Directory of Open Access Journals (Sweden)

    Carlos Eduardo Aparicio

    2010-12-01

    Full Text Available A seven years old, male poodle is examined presenting acute mandible paralysis (dropped jaw, drooling and difficulty for the apprehension and chewing; not evidence of an other alteration of cranial nerves. The muscular biopsy rules out a myositisof masticatory muscles. The disorder is resolved completely in 3 weeks confirming diagnosis of idiopathic trigeminal neuropathy.

  17. Biological agents in polyarticular juvenile idiopathic arthritis

    DEFF Research Database (Denmark)

    Amarilyo, Gil; Tarp, Simon; Foeldvari, Ivan

    2016-01-01

    BACKGROUND AND OBJECTIVE: Although various biological agents are in use for polyarticular juvenile idiopathic arthritis (pJIA), head-to-head trials comparing the efficacy and safety among them are lacking. We aimed to compare the efficacy and safety of biological agents in pJIA using all currently...

  18. GENETIC PREDICTORS OF IDIOPATHIC SICK SINUS SYNDROME

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    A. A. Chernova

    2012-01-01

    Full Text Available Published data demonstrating genetic determination of sick sinus syndrome is presented. The definition of this pathology is presented; the main symptoms are described, as well as genes that influence the development of idiopathic sick sinus syndrome, their polymorphisms and role in disorders of the cardiovascular system.

  19. Acute surgical management in idiopathic intracranial hypertension.

    LENUS (Irish Health Repository)

    Zakaria, Zaitun

    2012-01-01

    Idiopathic intracranial hypertension is a headache syndrome with progressive symptoms of raised intracranial pressure. Most commonly, it is a slow process where surveillance and medical management are the main treatment modalities. We describe herein an acute presentation with bilateral sixth nerve palsies, papilloedema and visual deterioration, where acute surgical intervention was a vision-saving operation.

  20. Histological characteristics of diffuse idiopathic skeletal hyperostosis

    NARCIS (Netherlands)

    Kuperus, JS; Westerveld, L Anneloes; Rutges, Joost A; Alblas, Jacqueline; van Rijen, Mattie H; Bleys, Ronald L A W; Oner, F Cumhur; Verlaan, JJ

    Diffuse idiopathic skeletal hyperostosis (DISH) is a predominantly radiographic diagnosis and histological knowledge of DISH is limited. The aim of this study was to describe the histological characteristics of DISH in the spinal column and to study the relation between DISH and intervertebral disc

  1. Pirfenidone treatment in idiopathic pulmonary fibrosis

    DEFF Research Database (Denmark)

    Salih, Goran Nadir; Shaker, Saher Burhan; Madsen, Helle Dall

    2016-01-01

    BACKGROUND: Pirfenidone was approved by the European Medicines Agency and introduced in most European countries in 2011 for treatment of idiopathic pulmonary fibrosis (IPF). OBJECTIVE: To describe the national Danish experiences of pirfenidone treatment for IPF during 30 months with respect...

  2. Diffuse idiopathic skeletal hyperostosis in ancient clergymen.

    NARCIS (Netherlands)

    Verlaan, J.J.; Oner, F.C.; Maat, G.J.

    2007-01-01

    Diffuse idiopathic skeletal hyperostosis (DISH) is a common but often unrecognized systemic disorder observed mainly in the elderly. DISH is diagnosed when the anterior longitudinal ligament of the spine is ossified on at least four contiguous spinal levels or when multiple peripheral enthesopathies

  3. Diffuse idiopathic skeletal hyperostosis in ancient clergymen

    NARCIS (Netherlands)

    Verlaan, J.J.; Oner, F.C.; Maat, G.R.J.

    2007-01-01

    Diffuse idiopathic skeletal hyperostosis (DISH) is a common but often unrecognized systemic disorder observed mainly in the elderly. DISH is diagnosed when the anterior longitudinal ligament of the spine is ossified on at least four contiguous spinal levels or when multiple peripheral

  4. Drug therapy for chronic idiopathic axonal polyneuropathy

    NARCIS (Netherlands)

    Warendorf, Janna; Vrancken, Alexander F.J.E.; van Schaik, Ivo N.; Hughes, Richard A.C.; Notermans, Nicolette C.

    2017-01-01

    Background: Chronic idiopathic axonal polyneuropathy (CIAP) is an insidiously progressive sensory or sensorimotor polyneuropathy that affects elderly people. Although severe disability or handicap does not occur, CIAP reduces quality of life. CIAP is diagnosed in 10% to 25% of people referred for

  5. Drug therapy for chronic idiopathic axonal polyneuropathy

    NARCIS (Netherlands)

    Warendorf, Janna; Vrancken, Alexander F. J. E.; van Schaik, Ivo N.; Hughes, Richard A. C.; Notermans, Nicolette C.

    2017-01-01

    Chronic idiopathic axonal polyneuropathy (CIAP) is an insidiously progressive sensory or sensorimotor polyneuropathy that affects elderly people. Although severe disability or handicap does not occur, CIAP reduces quality of life. CIAP is diagnosed in 10% to 25% of people referred for evaluation of

  6. Acute Lymphoblastic Leukaemia presenting as Juvenile Idiopathic ...

    African Journals Online (AJOL)

    Background: Acute Lymphoblastic Leukaemia in children commonly presents with osteo articular manifestations that may mimic Juvenile Idiopathic Arthritis. This may create considerable diagnostic difficulty and lead to delay in commencing appropriate treatment. Case: An eight year old boy who presented with multiple ...

  7. Contemporary Management of Idiopathic Laryngotracheal Stenosis.

    Science.gov (United States)

    Donahoe, Laura; Keshavjee, Shaf

    2018-05-01

    Idiopathic laryngotracheal stenosis is a rare but well-described indication for subglottic tracheal resection. Initially described by Pearson in 1975, the 1-stage subglottic tracheal resection with reconstruction of the airway ensures preservation of the recurrent laryngeal nerves while resulting in an effective and durable repair of the stenosis. Copyright © 2018 Elsevier Inc. All rights reserved.

  8. Unusual Presentation Of Idiopathic Retroperitoneal Fibrosis: Case ...

    African Journals Online (AJOL)

    Idiopathic retroperitoneal fibrosis (IRF) is an uncommon entity described as progressive proliferation of connective tissues leading to a fibrous plaque-like lesions that encases the aorta and inferior vena cava inferior to the level of the renal arteries. Mass forming retroperitoneal fibrosis is rare. We present a rare case of a ...

  9. Idiopathic noncirrhotic portal hypertension in dogs: 33 cases (1982-1998).

    Science.gov (United States)

    Bunch, S E; Johnson, S E; Cullen, J M

    2001-02-01

    To describe clinical signs, diagnostic findings, and outcome in dogs with idiopathic intrahepatic portal hypertension. Retrospective study. 33 dogs. Medical records of dogs with portal hypertension of intra-abdominal origin were reviewed. Dogs with intra-abdominal portal hypertension of vascular causes or with hepatic histopathologic changes consistent with severe diffuse hepatobiliary disease were excluded. History and results of physical examination, clinicopathologic tests, diagnostic imaging studies, histologic examination, and treatment were summarized. Outcome was determined in 26 dogs. Dogs were referred most often because of ascites, intermittent vomiting or diarrhea, and polydipsia of several months' duration. Microcytosis, high serum alkaline phosphatase and alanine transaminase activities, hepatic dysfunction, urine specific gravity anastomoses were the major findings of diagnostic imaging. Hepatic histopathologic changes were consistent with idiopathic noncirrhotic portal hypertension and were indistinguishable from those of dogs with surgically created portocaval anastomosis. Outcome was determined for 19 dogs released from hospital; 13 dogs remained healthy with mostly palliative treatment for periods of 5 months to 9 years. The clinical signs, clinicopathologic test results, portal pressure, and gross appearance of the liver of dogs with idiopathic noncirrhotic portal hypertension may be identical to those of dogs with cirrhosis; therefore liver biopsy is crucial. Because the prognosis for idiopathic noncirrhotic portal hypertension is generally favorable, owners of affected dogs should be discouraged from choosing euthanasia.

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

    Science.gov (United States)

    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.

  11. A sigmoidal fit for pressure-volume curves of idiopathic pulmonary fibrosis patients on mechanical ventilation: clinical implications

    Directory of Open Access Journals (Sweden)

    Juliana C. Ferreira

    2011-01-01

    Full Text Available OBJECTIVE: Respiratory pressure-volume curves fitted to exponential equations have been used to assess disease severity and prognosis in spontaneously breathing patients with idiopathic pulmonary fibrosis. Sigmoidal equations have been used to fit pressure-volume curves for mechanically ventilated patients but not for idiopathic pulmonary fibrosis patients. We compared a sigmoidal model and an exponential model to fit pressure-volume curves from mechanically ventilated patients with idiopathic pulmonary fibrosis. METHODS: Six idiopathic pulmonary fibrosis patients and five controls underwent inflation pressure-volume curves using the constant-flow technique during general anesthesia prior to open lung biopsy or thymectomy. We identified the lower and upper inflection points and fit the curves with an exponential equation, V = A-B.e-k.P, and a sigmoid equation, V = a+b/(1+e-(P-c/d. RESULTS: The mean lower inflection point for idiopathic pulmonary fibrosis patients was significantly higher (10.5 ± 5.7 cm H2O than that of controls (3.6 ± 2.4 cm H2O. The sigmoidal equation fit the pressure-volume curves of the fibrotic and control patients well, but the exponential equation fit the data well only when points below 50% of the inspiratory capacity were excluded. CONCLUSION: The elevated lower inflection point and the sigmoidal shape of the pressure-volume curves suggest that respiratory system compliance is decreased close to end-expiratory lung volume in idiopathic pulmonary fibrosis patients under general anesthesia and mechanical ventilation. The sigmoidal fit was superior to the exponential fit for inflation pressure-volume curves of anesthetized patients with idiopathic pulmonary fibrosis and could be useful for guiding mechanical ventilation during general anesthesia in this condition.

  12. Optimizing quality of life in patients with idiopathic pulmonary fibrosis

    Science.gov (United States)

    van Manen, Mirjam J. G.; Geelhoed, J. J. Miranda.; Tak, Nelleke C.; Wijsenbeek, Marlies S.

    2017-01-01

    Idiopathic pulmonary fibrosis (IPF) is a devastating, progressive and ultimately fatal lung disease. The combination of poor prognosis, uncertainty of disease course and severe symptom burden heavily impacts patients’ and their families’ quality of life. Though new antifibrotic drugs have been shown to decrease disease progression, the effect on health-related quality of life (HRQOL) has not been convincingly demonstrated. In a relentless disease such as IPF, striving to optimize HRQOL should complement the endeavour to prolong life. Unfortunately, there is a paucity of interventions improving symptoms and functionality for patients with IPF, and research focusing on symptom improvement, and assessing and optimizing HRQOL, is limited. This review summarizes the most recent insights into measuring and improving quality of life for patients with IPF, and discusses challenges in the management of this devastating disease. Moreover, we postulate a new model for continuous care in IPF – ‘the ABCDE of IPF care’: Assessing patients’ needs; Backing patients by giving information and support; delivering Comfort care by focusing on treating symptoms and taking into account Comorbidities; striving to prolong life by Disease modification; helping and preparing patients and their caregivers for the eventual End-of-life events that are likely to occur. PMID:28134007

  13. vanishing bone disease in a tertiary teaching hospital in uganda

    African Journals Online (AJOL)

    prior to the above presentation and review of systems were unremarkable. General examination revealed a ... syndrome or disease, massive osteolysis, disappearing bone disease, vanishing bone disease, idiopathic ... patient symptoms and anatomic location. Medical treatment involves, radiation therapy, anti-osteoclastic.

  14. The distribution of immunomodulatory cells in the lungs of patients with idiopathic pulmonary fibrosis

    Science.gov (United States)

    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

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

    Science.gov (United States)

    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.

  16. Management of idiopathic nephrotic syndrome in childhood

    Directory of Open Access Journals (Sweden)

    Peco-Antić Amira

    2004-01-01

    Full Text Available The management of idiopathic nephrotic syndrome (INS in children includes immunosuppressive and symptomatic treatment. The response to corticosteroid therapy is the best prognostic marker of the disease. The majority of children with INS (about 85% are steroid-sensitive as they normalize proteinuria within 4 weeks of daily, oral prednisone administration. The most of steroid-sensitive patients (94% has minimal change of nephrotic syndrome, while the majority (80.5%-94.4% of those who are steroid-resistant has focal segmental glomerulosderosis or mesangioproliferative glomerulonephritis. Initial therapy of INS consists of 60 mg/m2/day prednisone daily for 4 weeks followed by 40 mg/m2 on alternate days for 4 weeks, thereafter decreasing alternate day therapy every month by 25% over the next 4 months. Thus, the overall duration of the initial cortico-steroids course is 6 months that may be significantly protective against the future development of frequent relapses. Approximately 30% of patients experience only one attack and are cured after the first course of therapy; 10-20% have only 3 or 4 steroid-responsive episodes before permanent cure; the remaining 40-50% of patients are frequent relapsers, or steroid-dependent. Standard relapse therapy consists of 60 mg/m2/ day prednisone until urine is protein free for at least 3 days, followed by 40 mg/m2 on alternate days for 4 weeks. The treatment of frequent-relapses and steroid-dependent INS includes several different regimens: maintenance (6 months alternate steroid therapy just above steroid threshold (0.1-0.5 mg/kg/ 48h, levamisole, alkylating agents (cyclophosphamide or chlorambucil or cyclosporine. The worse prognosis is expected in steroid-resistant patients who are the most difficult to treat. Renal biopsy should be performed in them. At present, there is no consensus on therapeutic regimen for steroid-resistant patients. The following immunosuppressive drugs have been used with varying

  17. Rituximab in treatment of idiopathic glomerulopathy

    Directory of Open Access Journals (Sweden)

    Kamel El-Reshaid

    2012-01-01

    Full Text Available The aim of our study was to assess the role of rituximab (Mabthera in the treatment of patients with corticosteroid-resistant and calcineurin-inhibitors ± cellcept refractory idiopathic nephrotic syndrome (INS. A total of 83 patients who had required the previous treatment for a minimum of two years were included in the study. Our protocol included the use of rituximab in four-weekly slow infusions. Five patients were excluded as they could not tolerate rituximab infusion for allergic reaction. As expected, none of the patients had a decline in the total circulating lymphocyte counts yet all had achieved decline of their initially normal CD20 to < 0.5% one month after infusion. The decline persisted for eight to ten months later. In the minimal change disease (MCD group, 31 of the 32 patients had complete remission (CR and were off any immunosuppressive therapy and one of the previous non-responders (NR did not respond. Excluding two patients who had required retreatment, the others remained in CR (17 up to 28 months and six up to 36 months. Treatment with rituximab resulted in amelioration of NS in 17 of the 18 patients with focal segmental glomerulosclerosis (FSGS, while only one patient remained NR. Although renal function remained stable, proteinuria reappeared by eight to 12 months. Retreatment with rituximab resulted in a similar response with stable kidney function. In the 28 patients with membranous glomerulopathy (MG, 24 had achieved CR. Two patients failed to respond and two had partial remission. By 12 months, all patients relapsed. The response was within one month following treatment in patient with MCD, but was gradual within three months in FSGS and MG. Relapsers in all groups responded in a similar pattern to repeat dosing with the drug subsequently. Our prospective study represents an adequate number of patients with biopsy-proven subgroups of INS in both children and adults with long-term follow-up of treatment with rituximab

  18. Traumatic bone cyst, idiopathic origin

    African Journals Online (AJOL)

    GB

    2014-04-02

    Apr 2, 2014 ... CONCLUSION: The majority of TBCs are located in the mandibular body between the canine and the third molar. ... altered calcium metabolism, low-grade infection, .... asymptomatic nature of the disease is the reason.

  19. Judicious use of biologicals in juvenile idiopathic arthritis.

    Science.gov (United States)

    Zhao, Yongdong; Wallace, Carol

    2014-11-01

    Juvenile idiopathic arthritis (JIA) is a chronic inflammatory disorder that may cause joint destruction. Biological treatments targeting specific cytokines and cell interactions have transformed the outcomes of JIA. This review focuses on the selection of patients for and the timing and selection of biological treatment in JIA. Tumor necrosis factor (TNF) inhibitors remain the first choice for polyarticular JIA, followed by abatacept and tocilizumab. Monoclonal-antibody TNF inhibitors and abatacept are usually chosen for methotrexate-resistant uveitis. Recent clinical trials of canakinumab, rilonacept, and tocilizumab have obtained great improvement in both systemic and arthritic features in chronic systemic JIA patients. Current guidelines support the early use of a short-acting IL-1 antagonist for macrophage activation syndrome, a life-threatening complication. TREAT and ACUTE studies suggest that a therapeutic window of opportunity during early disease may exist in JIA. Early initiation of biological therapy may be associated with slower progression of joint damage and longer remission.

  20. Idiopathic portal hypertension with regard to thiopurine treatment.

    Science.gov (United States)

    Machlab, Salvador; Miquel, Mireia; Vergara, Mercedes

    2018-04-16

    Idiopathic portal hypertension (IPH) is an infrequent adverse reaction to the use of thiopurines that tends to be overlooked. Herein, we present a patient with ileocolic Crohn's disease treated with azathioprine who presented ascites, esophageal varices and splenomegaly without any signs of liver cirrhosis. A portal hemodynamics study revealed a normal portosystemic gradient compatible with presinusoidal portal hypertension. Finally, IPH was diagnosed after a liver biopsy. IPH secondary to thiopurines is due to a 6-thioguanine nucleotide (6-TGN)-dependent reaction and occurs predominantly between three months and three years after the start of treatment. The onset is usually insidious and thrombocytopenia is the first manifestation. The definitive diagnosis is obtained by liver biopsy.

  1. New onset of idiopathic bilateral ear tics in an adult.

    Science.gov (United States)

    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.

  2. A Rare Cause of Acute Abdomen: Idiopathic Isolated Cecal Necrosis

    Directory of Open Access Journals (Sweden)

    Ender Özer

    2015-03-01

    Full Text Available Idiopathic isolated cecal necrosis is a clinical problem characterized by right-sided inferior abdominal pain. It is rarely seen, develops due to decreased blood flow to the colon and, imitates acute appendicitis. Its clinical signs are similar to many illnesses causing sensitivity in the right inferior quadrant and, the diagnosis is generally determined during surgery. An 86-year-old male patient presented with the complaints of abdominal pain, trichiniasis, nausea and vomiting. Surgical intervention was decided when physical examination and laboratory results were taken into consideration. After diagnostic laparoscopy, right hemicolectomy was performed because of cecal necrosis. While the mortality and morbidity rates for ischemic bowel disease are high, prognosis for early diagnosed patients with isolated cecal necrosis is better, provided that timely surgical treatment is decided.

  3. Case Report: Elevated CPK, an indicator of idiopathic inflammatory myopathy? [version 1; referees: 2 approved

    Directory of Open Access Journals (Sweden)

    Hina N. Khan

    2016-02-01

    Full Text Available Polymyositis is a rare disease with incidence rates at about 1 per 100,000 people annually. In this case report we will review a case of proximal muscle weakness with an elevated creatine phosphokinase that was initially misdiagnosed twice as rhabdomyolysis. Therefore, emphasizing that idiopathic inflammatory myopathy is a potential cause of myasthenia that must be considered in the differential. The case will also describe the current treatment and treatment response in polymyositis.

  4. Australian Paediatric Rheumatology Group standards of care for the management of juvenile idiopathic arthritis.

    Science.gov (United States)

    Munro, Jane; Murray, Kevin; Boros, Christina; Chaitow, Jeffrey; Allen, Roger C; Akikusa, Jonathan; Adib, Navid; Piper, Susan E; Singh-Grewal, Davinder

    2014-09-01

    This standards document outlines accepted standards of management for children, adolescents and young adults with juvenile idiopathic arthritis (JIA) in Australia. This document acknowledges that the chronic inflammatory arthritis conditions (JIA) in childhood are different diseases from inflammatory arthritis in adults and that specific expertise is required in the care of children with arthritis. © 2014 The Authors. Journal of Paediatrics and Child Health © 2014 Paediatrics and Child Health Division (Royal Australasian College of Physicians).

  5. CLINICAL AND LABORATORY PROFILE OF PATIENTS WITH IDIOPATHIC CD4 LYMPHOCYTOPENIA- A RARE CLINICAL ENTITY

    OpenAIRE

    Vijayashree Thyagaraj; Karthik Ashok

    2017-01-01

    BACKGROUND Since 1989, several investigators have reported unusual cases of severe opportunistic infections associated with CD4 lymphocytopenia in the absence of human immunodeficiency virus infection. The cause of this condition is unknown. The Centres for Disease Control and Prevention (CDC) defines Idiopathic CD4 T Lymphocytopenia (ICL) as a clinical condition in which patients with depressed numbers of circulating CD4+ T-cell lymphocytes (

  6. Mortality from idiopathic pulmonary fibrosis: a temporal trend analysis in Brazil, 1979-2014

    OpenAIRE

    Algranti, Eduardo; Saito, Cézar Akiyoshi; Silva, Diego Rodrigues Mendonça e; Carneiro, Ana Paula Scalia; Bussacos, Marco Antonio

    2017-01-01

    ABSTRACT Objective: To analyze mortality from idiopathic pulmonary fibrosis (IPF) in Brazil over the period 1979-2014. Methods: Microdata were extracted from the Brazilian National Ministry of Health Mortality Database. Only deaths for which the underlying cause was coded as International Classification of Diseases version 9 (ICD-9) 515 or 516.3 (until 1995) or as ICD version 10 (ICD-10) J84.1 (from 1996 onward) were included in our analysis. Standardized mortality rates were calculated for...

  7. Idiopathic pleuroparenchymal fibroelastosis, a rare entity of interstitial pneumonia: A case report

    Energy Technology Data Exchange (ETDEWEB)

    Park, Jong Chun; Chae, Eun Jin; Song, Joon Seon [University of Ulsan College of Medicine, Asan Medical Center, Seou (Korea, Republic of)

    2014-04-15

    Idiopathic pleuroparenchymal fibroelastosis (IPPFE) is a recently described, very rare type of fibrotic interstitial lung disease predominantly involving subpleural areas of both upper lungs. IPPFE has distinctive radiologic and pathologic features: progressive subpleural opacity with fibrotic changes, predominantly in upper lungs, and dense elastic component on histology. We experienced one case of surgically confirmed IPPFE, with progression of radiologic findings on the serial CT examinations. We herein report the characteristic radiologic features of IPPFE with pathologic and clinical manifestations.

  8. Bone mineral density of girls with idiopathic scoliosis: a comparative study

    Directory of Open Access Journals (Sweden)

    Ameri E

    2012-11-01

    Full Text Available Background: Several studies have suggested higher incidence of osteoporosis in patients with idiopathic scoliosis in comparison with the normal population. The aim of this study was to assess the prevalence of low bone mass among adolescent girls with idiopathic scoliosis.Methods: In this cross-sectional study performed in shafa Hospital in Tehran, Iran during 2011-2012, we recruited fifty-seven 12- to-20-year old girls with idiopathic scoliosis and compared them with 100 age-matched healthy girls. The patients had no other diseases including neuromuscular disorders, congenital vertebral anomalies or a history of spinal surgery. Bone mineral densities (BMD of the hip and spine were evaluated and compared in all 157 participants using dual X-ray absorptiometry (DXA. Standard BMD (sBMD was also calculated at the lumbar spine. Results: Analysis of the data revealed that hip BMD was significantly (P=0.004 lower in patients with idiopathic scoliosis versus the controls. Moreover, BMD and sBMD of the Spine were also significantly lower in the patients (respectively, P=0.030 and P=0.030. Curve location had no effect on the values of hip BMD, spine BMD or spine sBMD (respectively, P=0.061 and P=0.274 and P=0.208.Finally, with more severe curves a lower bone mass was detected for sBMD and spine BMD (respectively, P=0.017 and P=0.016, but it was not significant for hip BMD (P=0.069.Conclusion: Adolescent girls with idiopathic scoliosis had lower bone mass compared with their healthy peers. The lower bone mass was correlated with the severity of the curve but not its location.

  9. The role of novel biomarkers in childhood idiopathic nephrotic syndrome: a narrative review of published evidence

    Directory of Open Access Journals (Sweden)

    Uwaezuoke SN

    2017-06-01

    to establish their usefulness as noninvasive predictors of disease response to immunosuppressive therapy. Keywords: biomarkers, idiopathic nephrotic syndrome, children, investigation

  10. Phenotypic spectrum of probable and genetically-confirmed idiopathic basal ganglia calcification.

    Science.gov (United States)

    Nicolas, Gaël; Pottier, Cyril; Charbonnier, Camille; Guyant-Maréchal, Lucie; Le Ber, Isabelle; Pariente, Jérémie; Labauge, Pierre; Ayrignac, Xavier; Defebvre, Luc; Maltête, David; Martinaud, Olivier; Lefaucheur, Romain; Guillin, Olivier; Wallon, David; Chaumette, Boris; Rondepierre, Philippe; Derache, Nathalie; Fromager, Guillaume; Schaeffer, Stéphane; Krystkowiak, Pierre; Verny, Christophe; Jurici, Snejana; Sauvée, Mathilde; Vérin, Marc; Lebouvier, Thibaud; Rouaud, Olivier; Thauvin-Robinet, Christel; Rousseau, Stéphane; Rovelet-Lecrux, Anne; Frebourg, Thierry; Campion, Dominique; Hannequin, Didier

    2013-11-01

    Idiopathic basal ganglia calcification is characterized by mineral deposits in the brain, an autosomal dominant pattern of inheritance in most cases and genetic heterogeneity. The first causal genes, SLC20A2 and PDGFRB, have recently been reported. Diagnosing idiopathic basal ganglia calcification necessitates the exclusion of other causes, including calcification related to normal ageing, for which no normative data exist. Our objectives were to diagnose accurately and then describe the clinical and radiological characteristics of idiopathic basal ganglia calcification. First, calcifications were evaluated using a visual rating scale on the computerized tomography scans of 600 consecutively hospitalized unselected controls. We determined an age-specific threshold in these control computerized tomography scans as the value of the 99th percentile of the total calcification score within three age categories: 60 years. To study the phenotype of the disease, patients with basal ganglia calcification were recruited from several medical centres. Calcifications that rated below the age-specific threshold using the same scale were excluded, as were patients with differential diagnoses of idiopathic basal ganglia calcification, after an extensive aetiological assessment. Sanger sequencing of SLC20A2 and PDGFRB was performed. In total, 72 patients were diagnosed with idiopathic basal ganglia calcification, 25 of whom bore a mutation in either SLC20A2 (two families, four sporadic cases) or PDGFRB (one family, two sporadic cases). Five mutations were novel. Seventy-one per cent of the patients with idiopathic basal ganglia calcification were symptomatic (mean age of clinical onset: 39 ± 20 years; mean age at last evaluation: 55 ± 19 years). Among them, the most frequent signs were: cognitive impairment (58.8%), psychiatric symptoms (56.9%) and movement disorders (54.9%). Few clinical differences appeared between SLC20A2 and PDGFRB mutation carriers. Radiological analysis

  11. Effects of prednisone and splenectomy in patients with idiopathic thrombocytopenic purpura : only splenectomy induces a complete remission

    NARCIS (Netherlands)

    Louwes, H; Vellenga, E; Houwerzijl, EJ; de Wolf, JTM

    2001-01-01

    Idiopathic thrombocytopenic purpura (ITP) is a heterogeneous disease, whereby it is unclear if and in which way prednisone and splenectomy affect the platelet kinetics leading to a complete remission. To determine the effects of prednisone and splenectomy on the mean platelet life (MPL) and platelet

  12. Genetic variants associated with susceptibility to idiopathic pulmonary fibrosis in people of European ancestry : A genome-wide association study

    NARCIS (Netherlands)

    Allen, Richard J; Porte, Joanne; Braybrooke, Rebecca; Flores, Carlos; Fingerlin, Tasha E; Oldham, Justin M; Guillen-Guio, Beatriz; Ma, Shwu-Fan; Okamoto, Tsukasa; John, Alison E; Obeidat, Ma'en; Yang, Ivana V; Henry, Amanda; Hubbard, Richard B; Navaratnam, Vidya; Saini, Gauri; Thompson, Norma; Booth, Helen L; Hart, Simon P; Hill, Mike R; Hirani, Nik; Maher, Toby M; McAnulty, Robin J; Millar, Ann B; Molyneaux, Philip L; Parfrey, Helen; Rassl, Doris M; Whyte, Moira K B; Fahy, William A; Marshall, Richard P; Oballa, Eunice; Bossé, Yohan; Nickle, David C; Sin, Don D; Timens, Wim; Shrine, Nick; Sayers, Ian; Hall, Ian P; Noth, Imre; Schwartz, David A; Tobin, Martin D; Wain, Louise V; Jenkins, R Gisli

    2017-01-01

    Background: Idiopathic pulmonary fibrosis (IPF) is a chronic progressive lung disease with high mortality, uncertain cause, and few treatment options. Studies have identified a significant genetic risk associated with the development of IPF; however, mechanisms by which genetic risk factors promote

  13. Quantitative nailfold video capillaroscopy in patients with idiopathic inflammatory myopathy.

    Science.gov (United States)

    Mercer, Louise K; Moore, Tonia L; Chinoy, Hector; Murray, Andrea K; Vail, Andy; Cooper, Robert G; Herrick, Ariane L

    2010-09-01

    To quantify nailfold capillary density and dimensions in patients with idiopathic inflammatory myopathy (IIM) and compare them with those in healthy controls; to look for associations with microvascular disease in IIM; and to determine whether nailfold capillary density and dimensions change over time. Nailfold video microscopy (x300 magnification) was performed on 24 patients with IIM and 35 healthy controls. Capillary density and dimensions (total width and apical width) were quantified. Patients were clinically assessed and disease activity recorded using the Myositis Disease Activity Assessment Tool. Disease severity and physical function were assessed using the myositis damage index and Stanford HAQ, respectively. Findings were analysed using linear and logistic regression, adjusted for age and sex. In a subgroup of 16 patients with IIM and 27 controls, the process was repeated 6-12 months later and the results were analysed using Student's t-test. Capillary density was lower and dimensions were higher in patients with IIM compared with healthy controls (P nailfold capillaroscopy, suggesting that nailfold capillaroscopy may be useful as an outcome measure of microvascular disease in studies of IIM.

  14. Advances in the treatment of polyarticular juvenile idiopathic arthritis

    Science.gov (United States)

    Webb, Kate; Wedderburn, Lucy R.

    2015-01-01

    Purpose of review To review recent advances in the management strategies of polyarticular course juvenile idiopathic arthritis (JIA) and identify unanswered questions and avenues for further research. Recent findings There is evidence for an early, aggressive, treat-to-target approach for polyarticular JIA. Clinical disease activity criteria have been recently defined and validated, including criteria for inactive disease and the juvenile arthritis disease activity score (JADAS). There is a need for evidence-based, defined disease targets and biomarkers for prediction of response, including targets for remission induction, and guidelines on drug withdrawal. Recent treatment consensus plans and guidelines are discussed and compared, including the 2015 NHS England clinical policy statement, the 2014 Childhood Arthritis and Rheumatology Research Alliance (CARRA) treatment plans and the 2011 American College of Rheumatology (ACR) guidelines. Evidence for new agents such as tocilizumab, rituximab, golimumab, ustekinumab, certolizumab and tofacitinib is promising: the recent clinical trials are summarized here. Stratification of individual patient treatment remains a goal, and predictive biomarkers have been shown to predict success in the withdrawal of methotrexate therapy. Summary There are promising advances in the treatment approaches, disease activity criteria, clinical guidelines, pharmaceutical choices and individually stratified therapy choices for polyarticular JIA. PMID:26147756

  15. Lung cancer in patients with idiopathic pulmonary fibrosis.

    Science.gov (United States)

    Karampitsakos, Theodoros; Tzilas, Vasilios; Tringidou, Rodoula; Steiropoulos, Paschalis; Aidinis, Vasilis; Papiris, Spyros A; Bouros, Demosthenes; Tzouvelekis, Argyris

    2017-08-01

    Idiopathic pulmonary fibrosis (IPF) is a chronic fibrotic lung disease of unknown etiology. With a gradually increasing worldwide prevalence and a mortality rate exceeding that of many cancers, IPF diagnosis and management are critically important and require a comprehensive multidisciplinary approach. This approach also involves assessment of comorbid conditions, such as lung cancer, that exerts a dramatic impact on disease survival. Emerging evidence suggests that progressive lung scarring in the context of IPF represents a risk factor for lung carcinogenesis. Both disease entities present with major similarities in terms of pathogenetic pathways, as well as potential causative factors, such as smoking and viral infections. Besides disease pathogenesis, anti-cancer agents, including nintedanib, have been successfully applied in the treatment of patients with IPF while an oncologic approach with a cocktail of several pleiotropic anti-fibrotic agents is currently in the therapeutic pipeline of IPF. Nevertheless, epidemiologic association between IPF and lung cancer does not prove causality. Currently there is significant lack of knowledge supporting a direct association between lung fibrosis and cancer reflecting to disappointing therapeutic algorithms. An optimal therapeutic strategy for patients with both IPF and lung cancer represents an amenable need. This review article synthesizes the current state of knowledge regarding pathogenetic commonalities between IPF and lung cancer and focuses on clinical and therapeutic data that involve both disease entities. Copyright © 2017. Published by Elsevier Ltd.

  16. Current approaches to the management of idiopathic pulmonary fibrosis.

    Science.gov (United States)

    Raghu, Ganesh; Richeldi, Luca

    2017-08-01

    Idiopathic pulmonary fibrosis (IPF) is a progressive and ultimately fatal lung disease associated with dyspnoea, cough and impaired quality of life. Currently, the aims of patient care are to improve outcomes for patients by slowing the progression of the disease, extending life, and improving quality of life. A prompt, accurate diagnosis is important to enable patients to receive treatment early in the course of the disease and to be considered for lung transplantation. Two anti-fibrotic drugs, nintedanib and pirfenidone, have been shown to reduce decline in lung function in patients with IPF. In addition to pharmacological therapy, optimal management of IPF includes treatment of comorbidities, symptom relief, pulmonary rehabilitation, and palliative care. Patient education is important to enable patients to make decisions about their care and to help them manage their disease and the side-effects of anti-fibrotic drugs. Research continues into new treatments and combinations of treatments that may improve outcomes for patients with this devastating disease. Copyright © 2017. Published by Elsevier Ltd.

  17. Cerebrospinal fluid biomarkers profile of idiopathic normal pressure hydrocephalus.

    Science.gov (United States)

    Schirinzi, Tommaso; Sancesario, Giulia Maria; Di Lazzaro, Giulia; D'Elia, Alessio; Imbriani, Paola; Scalise, Simona; Pisani, Antonio

    2018-04-01

    Idiopathic normal pressure hydrocephalus (iNPH) is a disabling neurological disorder whose potential treatability is significantly limited by diagnostic uncertainty. In fact, typical clinical presentation occurs at late phases of disease, when CSF shunting could be ineffective. In recent years, measurement of different CSF proteins, whose concentration directly reflects neuropathological changes of CNS, has significantly improved both diagnostic timing and accuracy of neurodegenerative disease. Unfortunately iNPH lacks neuropathological hallmarks allowing the identification of specific disease biomarkers. However, neuropathology of iNPH is so rich and heterogeneous that many processes can be tracked in CSF, including Alzheimer's disease core pathology, subcortical degeneration, neuroinflammation and vascular dysfunction. Indeed, a huge number of CSF biomarkers have been analyzed in iNPH patients, but a unifying profile has not been provided yet. In this brief survey, we thus attempted to summarize the main findings in the field of iNPH CSF biomarkers, aimed at outlining a synthetic model. Although defined cut-off values for biomarkers are not available, a better knowledge of CSF characteristics may definitely assist in diagnosing the disease.

  18. Retrospective panoramic radiographic analysis for idiopathic osteosclerosis in Indians

    Directory of Open Access Journals (Sweden)

    Srikanth H Srivathsa

    2016-01-01

    Full Text Available Introduction: Idiopathic osteosclerosis is an area of increased radiodensity observed on panoramic radiographs. The prevalence of this entity is not known, especially in Indians. Aims and Objectives: To determine the prevalence and epidemiological characteristics of idiopathic osteosclerosis. Materials and Methods: Six hundred and forty panoramic radiographs were retrospectively analyzed for the presence of idiopathic osteosclerosis by a single trained oral radiologist. Statistical Analysis: The data obtained were analyzed using Microsoft Excel (Version 2007 for Windows. Results: Idiopathic osteosclerosis was identified in 32 individuals with a prevalence of 5%. There were 21 female (65.7% and 11 male (34.3% participants. There were 31 single, unilateral (96.85% osteosclerotic lesions and 1 (3.15% bilateral lesion. Right side localization was noted in 19 participants (57.57% and left side localization in 14 participants (42.42%. Conclusion: This study illustrates the prevalence of idiopathic osteosclerosis in Indians. Further, it depicts the characteristics of idiopathic osteosclerotic lesions.

  19. Epithelial to mesenchymal transition-related proteins ZEB1, β-catenin, and β-tubulin-III in idiopathic pulmonary fibrosis.

    Science.gov (United States)

    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.

  20. Idiopathic multiple aneurysm of external carotid artery

    Directory of Open Access Journals (Sweden)

    Saravanan Balachandran

    2014-01-01

    Full Text Available Aneurysms of external carotid artery are rare. Treatments for these are undertaken for the prevention of complications like hemorrhage or rupture, and embolism. We present a 71-year-old male with idiopathic multiple aneurysm for the past 34 years on conservative management and regular follow up for the past 4 years. This case was discussed for the rarity of idiopathic multiple aneurysm of the external carotid artery and the need for individualized treatment protocol to be followed as in this case, only watchful observation considering the age and patient compliance. In this world of evolving surgical techniques and newer treatment modalities, conservative treatment still has a role to play. Primary care physicians at the community level have a major role in following these patients and referring them as and when the need arises.