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Sample records for melas clinical features

  1. Clinical features of MELAS and its relation with A3243G gene point mutation.

    PubMed

    Zhang, Jin; Guo, Junhong; Fang, Wanghui; Jun, Qili; Shi, Kaili

    2015-01-01

    Mitochondrial encephalopathy with lactic acidosis and stroke-like episodes (MELAS) mostly occur in children. The point mutation A3243G of mitochondrial DNA (mtDNA) may work as a specific bio-marker for mitochondrial disorders. The related clinical features, however, may vary among individuals. This study therefore investigated the relation between MELAS clinical features and point mutation A3243G of mtDNA, in an attempt to provide further evidences for genetic diagnosis of MELAS. Children with MELAS-like syndromes were tested for both blood lactate level and point mutation A3243G of mtDNA. Further family study was performed by mtDNA mutation screening at the same loci for those who had positive gene mutation at A3243G loci. Those who were negative for A3243G point mutation were examined by muscle biopsy and genetic screening. Both clinical and genetic features were analyzed. In all 40 cases with positive A3243G mutation, 36 children fitted clinical diagnosis of MELAS. In other 484 cases with negative mutation, only 8 children were clinically diagnosed with MELAS. Blood lactate levels in both groups were all elevated (P>0.05). In a further genetic screening of 28 families, 10 biological mothers and 8 silbings of MELAS children had positive A3243G point mutations but without any clinical symptoms. Certain difference existed in the clinical manifestations between children who were positive and negative for A3243G mutation of mtDNA but without statistical significance. MELAS showed maternal inheritance under most circumstances. PMID:26722549

  2. Clinical features of MELAS and its relation with A3243G gene point mutation

    PubMed Central

    Zhang, Jin; Guo, Junhong; Fang, Wanghui; Jun, Qili; Shi, Kaili

    2015-01-01

    Mitochondrial encephalopathy with lactic acidosis and stroke-like episodes (MELAS) mostly occur in children. The point mutation A3243G of mitochondrial DNA (mtDNA) may work as a specific bio-marker for mitochondrial disorders. The related clinical features, however, may vary among individuals. This study therefore investigated the relation between MELAS clinical features and point mutation A3243G of mtDNA, in an attempt to provide further evidences for genetic diagnosis of MELAS. Children with MELAS-like syndromes were tested for both blood lactate level and point mutation A3243G of mtDNA. Further family study was performed by mtDNA mutation screening at the same loci for those who had positive gene mutation at A3243G loci. Those who were negative for A3243G point mutation were examined by muscle biopsy and genetic screening. Both clinical and genetic features were analyzed. In all 40 cases with positive A3243G mutation, 36 children fitted clinical diagnosis of MELAS. In other 484 cases with negative mutation, only 8 children were clinically diagnosed with MELAS. Blood lactate levels in both groups were all elevated (P>0.05). In a further genetic screening of 28 families, 10 biological mothers and 8 silbings of MELAS children had positive A3243G point mutations but without any clinical symptoms. Certain difference existed in the clinical manifestations between children who were positive and negative for A3243G mutation of mtDNA but without statistical significance. MELAS showed maternal inheritance under most circumstances. PMID:26722549

  3. MELAS syndrome: Clinical manifestations, pathogenesis, and treatment options.

    PubMed

    El-Hattab, Ayman W; Adesina, Adekunle M; Jones, Jeremy; Scaglia, Fernando

    2015-01-01

    Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS) syndrome is one of the most frequent maternally inherited mitochondrial disorders. MELAS syndrome is a multi-organ disease with broad manifestations including stroke-like episodes, dementia, epilepsy, lactic acidemia, myopathy, recurrent headaches, hearing impairment, diabetes, and short stature. The most common mutation associated with MELAS syndrome is the m.3243A>G mutation in the MT-TL1 gene encoding the mitochondrial tRNA(Leu(UUR)). The m.3243A>G mutation results in impaired mitochondrial translation and protein synthesis including the mitochondrial electron transport chain complex subunits leading to impaired mitochondrial energy production. The inability of dysfunctional mitochondria to generate sufficient energy to meet the needs of various organs results in the multi-organ dysfunction observed in MELAS syndrome. Energy deficiency can also stimulate mitochondrial proliferation in the smooth muscle and endothelial cells of small blood vessels leading to angiopathy and impaired blood perfusion in the microvasculature of several organs. These events will contribute to the complications observed in MELAS syndrome particularly the stroke-like episodes. In addition, nitric oxide deficiency occurs in MELAS syndrome and can contribute to its complications. There is no specific consensus approach for treating MELAS syndrome. Management is largely symptomatic and should involve a multidisciplinary team. Unblinded studies showed that l-arginine therapy improves stroke-like episode symptoms and decreases the frequency and severity of these episodes. Additionally, carnitine and coenzyme Q10 are commonly used in MELAS syndrome without proven efficacy. PMID:26095523

  4. Clinical evaluation of the Modular Electromechanical Lock Actuator (MELA) for above-elbow prostheses: a final report.

    PubMed

    Cupo, M E; Sheredos, S J

    1996-02-01

    The Modular Electromechanical Lock Actuator (MELA) is the result of research and development (R&D) conducted under the direction of Dudley S. Childress, PhD, at the Northwestern University Prosthetics Research Laboratory (NUPRL), Chicago, Illinois. NUPRL, based upon experience with prostheses for persons with high-level, above-elbow amputations, developed the MELA to assist those persons with amputation who experience difficulty in operating existing manual elbows, whether with a conventional harness, nudge control, excursion amplifier, or other arrangement. Technology Transfer Section, VA Rehab R&D, with collaboration from Frederick Downs, Jr., Director, and John Clements, Prosthetic Regional Manager, VA National Prosthetic and Sensory Aids Service, managed a multicenter clinical evaluation of the MELA. The purpose was to objectively assess and affirm its performance, safety, clinical application, and commercial readiness. The following VA Prosthetic Treatment Centers served as evaluation sites: Baltimore, MD, Huntington, WV, and New York, NY. A VA-wide screening process yielded 10 candidates for review. A total of seven subjects met the selection criteria and were accepted for participation. In addition, several prosthetists provided their comments on the MELA. Overall, the performance of the MELA demonstrated that it could be fit to existing body-powered arms and used as an alternative control method for manual elbows. Consensus of participant feedback indicated general satisfaction and improved elbow lock function. In addition, several modifications were identified for the commercial version. The primary issues focused on 1) increasing speed (alternating response time); 2) unloading forearm (sometimes required to cycle the MELA); 3) providing mechanical back-up in case of unit failure; 4) reducing gear-motor noise; 5) improving integrity of wiring and retaining clip; and 6) marketing the MELA as a stand-alone product. Hosmer-Dorrance Corp., in collaboration with the developer, has indicated that resolution for most of the identified issues is readily achievable. Increasing speed (response time) and unloading forearm will require more investigation and consumer feedback from the commercial market. Based upon the clinical findings, the MELA was recommended for commercial production and availability, upon prescription, to appropriate veteran beneficiaries. PMID:8868418

  5. When should MELAS (Mitochondrial myopathy, Encephalopathy, Lactic Acidosis, and Stroke-like episodes) be the diagnosis?

    PubMed

    Lorenzoni, Paulo José; Werneck, Lineu Cesar; Kay, Cláudia Suemi Kamoi; Silvado, Carlos Eduardo Soares; Scola, Rosana Herminia

    2015-11-01

    Mitochondrial myopathy, Encephalopathy, Lactic Acidosis, and Stroke-like episodes (MELAS) is a rare mitochondrial disorder. Diagnostic criteria for MELAS include typical manifestations of the disease: stroke-like episodes, encephalopathy, evidence of mitochondrial dysfunction (laboratorial or histological) and known mitochondrial DNA gene mutations. Clinical features of MELAS are not necessarily uniform in the early stages of the disease, and correlations between clinical manifestations and physiopathology have not been fully elucidated. It is estimated that point mutations in the tRNALeu(UUR) gene of the DNAmt, mainly A3243G, are responsible for more of 80% of MELAS cases. Morphological changes seen upon muscle biopsy in MELAS include a substantive proportion of ragged red fibers (RRF) and the presence of vessels with a strong reaction for succinate dehydrogenase. In this review, we discuss mainly diagnostic criterion, clinical and laboratory manifestations, brain images, histology and molecular findings as well as some differential diagnoses and current treatments. PMID:26517220

  6. Frequency of MELAS main mutation in a phenotype-targeted young ischemic stroke patient population.

    PubMed

    Tatlisumak, Turgut; Putaala, Jukka; Innilä, Markus; Enzinger, Christian; Metso, Tiina M; Curtze, Sami; von Sarnowski, Bettina; Amaral-Silva, Alexandre; Jungehulsing, Gerhard Jan; Tanislav, Christian; Thijs, Vincent; Rolfs, Arndt; Norrving, Bo; Fazekas, Franz; Suomalainen, Anu; Kolodny, Edwin H

    2016-02-01

    Mitochondrial diseases, predominantly mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS), may occasionally underlie or coincide with ischemic stroke (IS) in young and middle-aged individuals. We searched for undiagnosed patients with MELAS in a target subpopulation of unselected young IS patients enrolled in the Stroke in Young Fabry Patients study (sifap1). Among the 3291 IS patients aged 18-55 years recruited to the sifap1 study at 47 centers across 14 European countries, we identified potential MELAS patients with the following phenotypic features: (a) diagnosed cardiomyopathy or (b) presence of two of the three following findings: migraine, short stature (?165 cm for males; ?155 cm for females), and diabetes. Identified patients' blood samples underwent analysis of the common MELAS mutation, m.3243A>G in the MTTL1 gene of mitochondrial DNA. Clinical and cerebral MRI features of the mutation carriers were reviewed. We analyzed blood samples of 238 patients (177 with cardiomyopathy) leading to identification of four previously unrecognized MELAS main mutation carrier-patients. Their clinical and MRI characteristics were within the expectation for common IS patients except for severe hearing loss in one patient and hyperintensity of the pulvinar thalami on T1-weighted MRI in another one. Genetic testing for the m.3243A>G MELAS mutation in young patients with IS based on phenotypes suggestive of mitochondrial disease identifies previously unrecognized carriers of MELAS main mutation, but does not prove MELAS as the putative cause. PMID:26566914

  7. Sedimentary Rocks in Melas

    NASA Technical Reports Server (NTRS)

    2005-01-01

    This Mars Global Surveyor (MGS) Orbiter Camera (MOC) image shows a butte and several other landforms eroded into light-toned, layered, sedimentary rock in southern Melas Chasma. Melas is part of the vast Valles Marineris trough system.

    Location near: 11.8oS, 74.6oW Image width: 3.0 km (1.9 mi) Illumination from: lower left Season: Southern Spring

  8. Layered Rocks of Melas

    NASA Technical Reports Server (NTRS)

    2004-01-01

    04 August 2004 This Mars Global Surveyor (MGS) Mars Orbiter Camera (MOC) image shows layered sedimentary rock outcrops exposed by erosion in southern Melas Chasma, one of the major Valles Marineris troughs. Such outcrops are common in southern Melas; they resemble the rock outcrops seen in some of the chaotic terrains and other Valles Marineris chasms. This image is located near 11.9oS, 74.6oW, and is about 3 km (1.9 mi) wide. Sunlight illuminates the scene from the lower left.

  9. The expanding phenotype of MELAS caused by the m.3291T > C mutation in the MT-TL1 gene.

    PubMed

    Keilland, E; Rupar, C A; Prasad, Asuri N; Tay, K Y; Downie, A; Prasad, C

    2016-03-01

    m.3291T > C mutation in the MT-TL1 gene has been infrequently encountered in association with mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes (MELAS), however remains poorly characterized from a clinical perspective. In the following report we describe in detail the phenotypic features, long term follow up (> 7 years) and management in a Caucasian family with MELAS due to the m.3291T > C mutation and review the literature on m.3291T > C mutation. The clinical phenotype in the proposita included overlapping features of MELAS, MERRF (Myoclonic epilepsy and ragged-red fiber syndrome), MNGIE (Mitochondrial neurogastrointestinal encephalopathy), KSS (Kearns-Sayre Syndrome) and CPEO (Chronic progressive external ophthalmoplegia). PMID:27014580

  10. The expanding phenotype of MELAS caused by the m.3291T > C mutation in the MT-TL1 gene

    PubMed Central

    Keilland, E.; Rupar, C.A.; Prasad, Asuri N.; Tay, K.Y.; Downie, A.; Prasad, C.

    2016-01-01

    m.3291T > C mutation in the MT-TL1 gene has been infrequently encountered in association with mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes (MELAS), however remains poorly characterized from a clinical perspective. In the following report we describe in detail the phenotypic features, long term follow up (> 7 years) and management in a Caucasian family with MELAS due to the m.3291T > C mutation and review the literature on m.3291T > C mutation. The clinical phenotype in the proposita included overlapping features of MELAS, MERRF (Myoclonic epilepsy and ragged-red fiber syndrome), MNGIE (Mitochondrial neurogastrointestinal encephalopathy), KSS (Kearns-Sayre Syndrome) and CPEO (Chronic progressive external ophthalmoplegia). PMID:27014580

  11. A whole mitochondrial genome screening in a MELAS patient: A novel mitochondrial tRNA{sup Val} mutation

    SciTech Connect

    Mezghani, Najla; Mnif, Mouna; Kacem, Maha; Mkaouar-Rebai, Emna; Hadj Salem, Ikhlass; Kallel, Nozha; Charfi, Nadia; Abid, Mohamed; Fakhfakh, Faiza

    2011-04-22

    Highlights: {yields} We report a young Tunisian patient with clinical features of MELAS syndrome. {yields} Reported mitochondrial mutations were absent after a mutational screening of the whole mtDNA. {yields} We described a novel m.1640A>G mutation in the tRNA{sup Val} gene which was absent in 150 controls. {yields} Mitochondrial deletions and POLG1 gene mutations were absent. {yields} The m.1640A>G mutation could be associated to MELAS syndrome. -- Abstract: Mitochondrial encephalopathy, lactic acidosis and strokelike episodes (MELAS) syndrome is a mitochondrial disorder characterized by a wide variety of clinical presentations and a multisystemic organ involvement. In this study, we report a Tunisian girl with clinical features of MELAS syndrome who was negative for the common m.3243A>G mutation, but also for the reported mitochondrial DNA (mtDNA) mutations and deletions. Screening of the entire mtDNA genome showed several known mitochondrial variants besides to a novel transition m.1640A>G affecting a wobble adenine in the anticodon stem region of the tRNA{sup Val}. This nucleotide was conserved and it was absent in 150 controls suggesting its pathogenicity. In addition, no mutations were found in the nuclear polymerase gamma-1 gene (POLG1). These results suggest further investigation nuclear genes encoding proteins responsible for stability and structural components of the mtDNA or to the oxidative phosphorylation machinery to explain the phenotypic variability in the studied family.

  12. Clinical Features of Turner Syndrome

    MedlinePLUS

    ... Current Studies Publications Lab Staff Contact Info Links Clinical Features Quick Navigation Introduction General Appearance Short Stature ... Thyroid CognitiveFunction/ Educational Issues Table 1. - phenotype incidences Clinical Features of Turner Syndrome Turner syndrome affects approximately ...

  13. Melas Sedimentary Rocks

    NASA Technical Reports Server (NTRS)

    2004-01-01

    17 July 2004 This Mars Global Surveyor (MGS) Mars Orbiter Camera (MOC) image shows layered, sedimentary rock outcrops in southwestern Melas Chasma, one of the troughs of the vast Valles Marineris system. Sunlight illuminates this scene from the upper left; it is located near 9.8oS, 76.0oW, and covers an area about 3 km (1.9 mi) wide.

  14. Adrenal insufficiency in a child with MELAS syndrome.

    PubMed

    Afroze, Bushra; Amjad, Nida; Ibrahim, Shahnaz H; Humayun, Khadija Nuzhat; Yakob, Yusnita

    2014-11-01

    Mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (MELAS) are established subgroups of mitochondrial encephalomyopathy. m.3243A>G a common point mutation is detected in tRNA in majority of patients with MELAS phenotype whereas m.8344A>G point mutation in tRNA is observed, in MERRF phenotype. Adrenal insufficiency has not been reported in mitochondrial disease, except in Kearns-Sayre Syndrome (KSS), which is a mitochondrial deletion syndrome. We report an unusual presentation in a five year old boy who presented with clinical phenotype of MELAS and was found to have m.8344A>G mutation in tRNA. Addison disease was identified due to hyperpigmentation of lips and gums present from early childhood. This is the first report describing adrenal insufficiency in a child with MELAS phenotype. PMID:24508408

  15. Layered Rocks In Melas

    NASA Technical Reports Server (NTRS)

    2004-01-01

    20 June 2004 This Mars Global Surveyor (MGS) Mars Orbiter Camera (MOC), image shows exposures of finely-bedded sedimentary rocks in western Melas Chasma, part of the vast Valles Marineris trough system. Rocks similar to these occur in neighboring west Candor Chasma, as well. The picture is located near 9.1oS, 74.5oW, and covers an area about 3 km (1.9 mi) wide. The scene is illuminated by sunlight from the left/upper left.

  16. Melas Sedimentary Rocks

    NASA Technical Reports Server (NTRS)

    2004-01-01

    28 August 2004 Light-toned, layered, sedimentary rock outcrops are common within the vast martian Valles Marineris trough system. This Mars Global Surveyor (MGS) Mars Orbiter Camera (MOC) image shows a recent example from southern Melas Chasma at 1.5 m/pixel (5 ft/pixel) resolution. The image is located near 11.3oS, 73.9oW, and covers an area about 1.8 km (1.1 mi) across. Sunlight illuminates the scene from the upper left.

  17. Melas Chasma Deposits

    NASA Technical Reports Server (NTRS)

    2003-01-01

    [figure removed for brevity, see original site]

    Erosion of the interior layered deposits of Melas Chasma, part of the huge Valles Marineris canyon system, has produced cliffs with dramatic examples of spur and gulley morphology and beautiful exposures of finely layered sediments.

    Note: this THEMIS visual image has not been radiometrically nor geometrically calibrated for this preliminary release. An empirical correction has been performed to remove instrumental effects. A linear shift has been applied in the cross-track and down-track direction to approximate spacecraft and planetary motion. Fully calibrated and geometrically projected images will be released through the Planetary Data System in accordance with Project policies at a later time.

    NASA's Jet Propulsion Laboratory manages the 2001 Mars Odyssey mission for NASA's Office of Space Science, Washington, D.C. The Thermal Emission Imaging System (THEMIS) was developed by Arizona State University, Tempe, in collaboration with Raytheon Santa Barbara Remote Sensing. The THEMIS investigation is led by Dr. Philip Christensen at Arizona State University. Lockheed Martin Astronautics, Denver, is the prime contractor for the Odyssey project, and developed and built the orbiter. Mission operations are conducted jointly from Lockheed Martin and from JPL, a division of the California Institute of Technology in Pasadena.

    Image information: VIS instrument. Latitude -10.4, Longitude 284.9 East (75.1 West). 19 meter/pixel resolution.

  18. Melas Chasma Landslide

    NASA Technical Reports Server (NTRS)

    2005-01-01

    [figure removed for brevity, see original site] Context image for PIA03041 Dunes in Darwin Crater

    The landslide in the center of this image occurred in the Melas Chasma region of Valles Marineris.

    Image information: VIS instrument. Latitude 11S, Longitude 292.6E. 17 meter/pixel resolution.

    Note: this THEMIS visual image has not been radiometrically nor geometrically calibrated for this preliminary release. An empirical correction has been performed to remove instrumental effects. A linear shift has been applied in the cross-track and down-track direction to approximate spacecraft and planetary motion. Fully calibrated and geometrically projected images will be released through the Planetary Data System in accordance with Project policies at a later time.

    NASA's Jet Propulsion Laboratory manages the 2001 Mars Odyssey mission for NASA's Office of Space Science, Washington, D.C. The Thermal Emission Imaging System (THEMIS) was developed by Arizona State University, Tempe, in collaboration with Raytheon Santa Barbara Remote Sensing. The THEMIS investigation is led by Dr. Philip Christensen at Arizona State University. Lockheed Martin Astronautics, Denver, is the prime contractor for the Odyssey project, and developed and built the orbiter. Mission operations are conducted jointly from Lockheed Martin and from JPL, a division of the California Institute of Technology in Pasadena.

  19. Intraventricular conduction disturbances and paroxysmal atrioventricular block in a young patient with MELAS.

    PubMed

    Reato, Stefania; Spartà, Sara; D'Este, Daniele

    2015-01-01

    We present the case of a 36-year-old male patient with MELAS (mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes) who developed intraventricular conduction disturbances and syncopal episodes due to a paroxysmal atrioventricular block. This case suggests that in MELAS, as well as in other mithochondriopathies, intraventricular conduction disturbances and atrioventricular block can be features of the disease. In our case, progression toward atrioventricular block was rapid, suggesting that in MELAS patients presenting with worsening conduction system anomalies, pacemaker implantation has to be considered without delay, irrespective of age. PMID:21085000

  20. Layers in Melas Chasma

    NASA Technical Reports Server (NTRS)

    2006-01-01

    [figure removed for brevity, see original site] Click on image for larger annotated version

    This scene of layered deposits is from Melas Chasma, part of the Valles Marineris valley network. The area consists of a series of plateaus and cliffs that form a step-like terrain similar to the Grand Staircase-Escalante region of southwest Utah. The upper-right half of the image covers the highest plateau, and lower cliffs and plateaus step down in elevation toward the lower left of the image. Dunes of dark sand commonly cover the flat plateaus and distinct layers of bedrock are exposed in the cliffs. The orientations of these layers may help scientists to understand how the layers formed and the kind of environment that the layers formed in. Black rectangles on the left side of the image are areas where the image data was lost during transmission from Mars Reconnaissance Orbiter to Earth. This subscene [above] shows a series of boulder tracks on the left side of the image. The boulders fell from the cliffs above and left behind a series of small depressions. Each depression was made as the boulder bounced and rolled along the surface. In many cases, the tracks can be followed to the specific boulder that made them. Also visible in this subscene are cross-sections through the layered bedrock. This bedrock likely formed through settling of sand-sized particles out of the air or out of a body of water that has since drained away. These layers are 'cross-bedded', which means that subsequent layers are not parallel to each other but are instead oriented at an angle to other layers. The fact that these layers are cross-bedded indicates that the sand-sized particles were moved horizontally along the surface as they settled, just like sand dunes or ripples at the bottom of a stream. The size and shape of these cross-beds may help scientists to determine if the layers formed underwater or on land.

    Image PSP_001377_1685 was taken by the High Resolution Imaging Science Experiment (HiRISE) camera onboard the Mars Reconnaissance Orbiter spacecraft on November 11, 2006. The complete image is centered at -11.3 degrees latitude, 286.3 degrees East longitude. The range to the target site was 257.7 km (161.0 miles). At this distance the image scale ranges from 25.8 cm/pixel (with 1 x 1 binning) to 51.6 cm/pixel (with 2 x 2 binning). The image shown here [below] has been map-projected to 25 cm/pixel and north is up. The image was taken at a local Mars time of 3:32 PM and the scene is illuminated from the west with a solar incidence angle of 60 degrees, thus the sun was about 30 degrees above the horizon. At a solar longitude of 133.9 degrees, the season on Mars is Northern Summer.

    NASA's Jet Propulsion Laboratory, a division of the California Institute of Technology in Pasadena, manages the Mars Reconnaissance Orbiter for NASA's Science Mission Directorate, Washington. Lockheed Martin Space Systems, Denver, is the prime contractor for the project and built the spacecraft. The High Resolution Imaging Science Experiment is operated by the University of Arizona, Tucson, and the instrument was built by Ball Aerospace and Technology Corp., Boulder, Colo.

  1. Melas Chasma: A Mars Pathfinder view of Valles Marineris

    NASA Technical Reports Server (NTRS)

    Treiman, Allan H.; Murchie, Scott

    1994-01-01

    A Mars Pathfinder landing site in Melas Chasma (Valles Marineris) would yield significant science return, but is outside present mission constraints. In Melas Chasma, Mars Pathfinder could investigate minimally altered basaltic material, sedimentary deposits, chemical weathering, tectonic features, the highland crust, equatorial weather, and Valles mists. Critical issues include the following: (1) nature and the origin of the Valles interior layered deposits, important for understanding water as a sedimentary and chemical agent, and for the past existence of of environments favorable for life; (2) compositions of little-altered basaltic sands, important for understanding magma genesis and weathering on Mars, and the martian meteorites; and (3) structure and composition of the highland crust, important for understanding Mars' early history .

  2. Clinical features of gastroenteropancreatic tumours

    PubMed Central

    Czarnywojtek, Agata; Bączyk, Maciej; Ziemnicka, Katarzyna; Fischbach, Jakub; Wrotkowska, Elżbieta; Ruchała, Marek

    2015-01-01

    Gastroenteropancreatic (GEP) endocrine tumours (carcinoids and pancreatic islet cell tumours) are composed of multipotent neuroendocrine cells that exhibit a unique ability to produce, store, and secrete biologically active substances and cause distinct clinical syndromes. The classification of GEP tumours as functioning or non-functioning is based on the presence of symptoms that accompany these syndromes secondary to the secretion of hormones, neuropeptides and/or neurotransmitters (functioning tumours). Non-functioning tumours are considered to be neoplasms of neuroendocrine differentiation that are not associated with obvious symptoms attributed to the hypersecretion of metabolically active substances. However, a number of these tumours are either capable of producing low levels of such substances, which can be detected by immunohistochemistry but are insufficient to cause symptoms related to a clinical syndrome, or alternatively, they may secrete substances that are either metabolically inactive or inappropriately processed. In some cases, GEP tumours are not associated with the production of any hormone or neurotransmitter. Both functioning and non-functioning tumours can also produce symptoms due to mass effects compressing vital surrounding structures. Gastroenteropancreatic tumours are usually classified further according to the anatomic site of origin: foregut (including respiratory tract, thymus, stomach, duodenum, and pancreas), midgut (including small intestine, appendix, and right colon), and hindgut (including transverse colon, sigmoid, and rectum). Within these subgroups the biological and clinical characteristics of the tumours vary considerably, but this classification is still in use because a significant number of previous studies, mainly observational, have used it extensively. PMID:26516377

  3. The clinical features of PML.

    PubMed

    Berger, Joseph R

    2011-11-01

    The symptoms associated with progressive multifocal leukoencephalopathy (PML) reflect the location of pathologic brain lesions. These symptoms include visual deficits, cognitive impairment, and motor weakness; in patients with acquired immunodeficiency syndrome (AIDS), presenting signs can also include gait disturbance, dysarthria, dysphasia, and ocular palsy. Recently, PML has been observed in patients treated with biologic agents; natalizumab recipients currently represent the second largest group of patients with PML (behind patients with AIDS). Although brain biopsy is the most accurate and reliable method for diagnosing PML, it is rarely used today. Diagnosis is usually based on detection of JC virus in the cerebrospinal fluid by polymerase chain reaction, the clinical presentation, and demonstration of PML brain lesions on magnetic resonance imaging. With immune reconstitution, the prognosis of PML has improved markedly. PMID:22123935

  4. ?-Lapachone attenuates mitochondrial dysfunction in MELAS cybrid cells.

    PubMed

    Jeong, Moon Hee; Kim, Jin Hwan; Seo, Kang-Sik; Kwak, Tae Hwan; Park, Woo Jin

    2014-10-24

    Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) is a mitochondrial disease caused by mutations in the mitochondrial genome. This study investigated the efficacy of ?-lapachone (?-lap), a natural quinone compound, in rescuing mitochondrial dysfunction in MELAS cybrid cells. ?-Lap significantly restored energy production and mitochondrial membrane potential as well as normalized the elevated ROS level in MELAS cybrid cells. Additionally, ?-lap reduced lactic acidosis and restored glucose uptake in the MELAS cybrid cells. Finally, ?-lap activated Sirt1 by increasing the intracellular NAD(+)/NADH ratio, which was accompanied by increased mtDNA content. Two other quinone compounds (idebenone and CoQ10) that have rescued mitochondrial dysfunction in previous studies of MELAS cybrid cells had a minimal effect in the current study. Taken together, these results demonstrated that ?-lap may provide a novel therapeutic modality for the treatment of MELAS. PMID:25451262

  5. Clinical features of pancreatic neuroendocrine tumors.

    PubMed

    Grozinsky-Glasberg, Simona; Mazeh, Haggi; Gross, David J

    2015-08-01

    Pancreatic neuroendocrine tumors (PNETs), also known as islet cell tumors, are rare neoplasms that arise in the endocrine tissues of the pancreas. Most of pancreatic NETs (50-75%) are nonfunctioning (not associated with a hormonal clinical syndrome); however, in up to one third they can secrete a variety of peptide hormones, including insulin, gastrin, glucagon, vasoactive intestinal peptide, somatostatin etc., resulting in rare but unique clinical syndromes. In this article, the clinical features of the different types of PNETs will be reviewed. Other aspects of the management of these tumors (surgery, treatment of advanced disease, tumor localization) are not dealt with here, as they are covered by other papers in this volume. PMID:25689919

  6. Clinical features of neuromyelitis optica in children

    PubMed Central

    Ness, Jayne; Krupp, Lauren; Waubant, Emmanuelle; Hunt, Tyler; Olsen, Cody S.; Rodriguez, Moses; Lotze, Tim; Gorman, Mark; Benson, Leslie; Belman, Anita; Weinstock-Guttman, Bianca; Aaen, Greg; Graves, Jennifer; Patterson, Marc; Rose, John W.; Casper, T. Charles

    2016-01-01

    Objective: To compare clinical features of pediatric neuromyelitis optica (NMO) to other pediatric demyelinating diseases. Methods: Review of a prospective multicenter database on children with demyelinating diseases. Case summaries documenting clinical and laboratory features were reviewed by an adjudication panel. Diagnoses were assigned in the following categories: multiple sclerosis (MS), acute disseminated encephalomyelitis, NMO, and recurrent demyelinating disease not otherwise specified. Results: Thirty-eight cases of NMO were identified by review panel, 97% of which met the revised International Panel on NMO Diagnosis NMO-SD 2014 criteria, but only 49% met 2006 Wingerchuk criteria. Serum or CSF NMO immunoglobulin G (IgG) was positive in 65% of NMO cases that were tested; however, some patients became seropositive more than 3 years after onset despite serial testing. No patient had positive CSF NMO IgG and negative serum NMO IgG in contemporaneous samples. Other than race (p = 0.02) and borderline findings for sex (p = 0.07), NMO IgG seropositive patients did not differ in demographic, clinical, or laboratory features from seronegatives. Visual, motor, and constitutional symptoms (including vomiting, fever, and seizures) were the most common presenting features of NMO. Initiation of disease-modifying treatment was delayed in NMO vs MS. Two years after onset, patients with NMO had higher attack rates, greater disability accrual measured by overall Expanded Disability Status Scale score, and visual scores than did patients with MS. Conclusion: The new criteria for NMO spectrum disorders apply well to the pediatric setting, and given significant delay in treatment of NMO compared to pediatric MS and worse short-term outcomes, it is imperative to apply these to improve access to treatment. PMID:26683648

  7. Basal cell carcinoma: clinical and pathological features.

    PubMed

    Di Stefani, A; Chimenti, S

    2015-08-01

    Basal cell carcinoma (BCC) is a slow-growing, locally invasive malignant epidermal skin neoplasm that represents the most common malignancy in Caucasians. The clinical presentation of BCC can be extremely variable: nodular, ulcerative, superficial, morpheiform, pigmented, and fibroepithelioma of Pinkus are the main clinical variants described. Clinical factors influencing negatively prognosis of BCC are: anatomic location, recurrence and/or persistance at site after treatment, and tumor size. A precise correlations between clinical and histopathological variants is not always possible, especially in biopsy samples. From a histopathological point of view various subtypes has been described: nodular, superficial, infiltrating, morpheiform, micronodular, fibroepithelial BCC and basosquamous carcinoma. A classification system based by growth pattern allows the identification of high-risk subtypes with potential tumor recurrence and aggressive biologic behavior such as infiltrating, morpheiform, micronodular and basosquamous subtypes. Further histopathological aspects determining high risk clinical morbidity are the level of invasion, perineural and lymphovascular invasion, involved surgical margins. The awareness of these clinicopathological features is helpful to better select the appropriate treatment management. PMID:26099353

  8. Neuromyelitis optica: clinical features, immunopathogenesis and treatment

    PubMed Central

    Jarius, S; Wildemann, B; Paul, F

    2014-01-01

    The term ‘neuromyelitis optica’ (‘Devic's syndrome’, NMO) refers to a syndrome characterized by optic neuritis and myelitis. In recent years, the condition has raised enormous interest among scientists and clinical neurologists, fuelled by the detection of a specific serum immunoglobulin (Ig)G reactivity (NMO-IgG) in up to 80% of patients with NMO. These autoantibodies were later shown to target aquaporin-4 (AQP4), the most abundant water channel in the central nervous system (CNS). Here we give an up-to-date overview of the clinical and paraclinical features, immunopathogenesis and treatment of NMO. We discuss the widening clinical spectrum of AQP4-related autoimmunity, the role of magnetic resonance imaging (MRI) and new diagnostic means such as optical coherence tomography in the diagnosis of NMO, the role of NMO-IgG, T cells and granulocytes in the pathophysiology of NMO, and outline prospects for new and emerging therapies for this rare, but often devastating condition. Other Articles published in this series Paraneoplastic neurological syndromes. Clinical and Experimental Immunology 2014, 175: 336–48. Disease-modifying therapy in multiple sclerosis and chronic inflammatory demyelinating polyradiculoneuropathy: common and divergent current and future strategies. Clinical and Experimental Immunology 2014, 175: 359–72. Monoclonal antibodies in treatment of multiple sclerosis. Clinical and Experimental Immunology 2014, 175: 373–84. CLIPPERS: chronic lymphocytic inflammation with pontine perivascular enhancement responsive to steroids. Review of an increasingly recognized entity within the spectrum of inflammatory central nervous system disorders. Clinical and Experimental Immunology 2014, 175: 385–96. Requirement for safety monitoring for approved multiple sclerosis therapies: an overview. Clinical and Experimental Immunology 2014, 175: 397–407. Myasthenia gravis: an update for the clinician. Clinical and Experimental Immunology 2014, 175: 408–18. Cerebral vasculitis in adults: what are the steps in order to establish the diagnosis? Red flags and pitfalls. Clinical and Experimental Immunology 2014, 175: 419–24. Multiple sclerosis treatment and infectious issues: update 2013. Clinical and Experimental Immunology 2014, 175: 425–38. Diagnosis, pathogenesis and treatment of myositis: recent advances 2014, 175: 349–58. Management of disease-modifying treatments in neurological autoimmune diseases of the central nervous system 2014, 176: 135–48. PMID:24666204

  9. Dermoscopic and clinical features of trunk melanomas

    PubMed Central

    Emiroglu, Nazan; Hofmann-Wellenhof, Rainer

    2014-01-01

    Introduction Malignant melanomas account for 5% of all skin cancers and usually have a fatal clinical course. Additionally, the incidence of melanoma increases more rapidly than in any other cancer, and this has been attributed to the development of highly sensitive diagnostic techniques, mainly dermoscopy, which allows for early diagnosis. The phenotypic manifestations of gene/environment interactions, environmental factor and genetic factors may determine subtypes and anatomic localization of melanoma. Histopathologic subtypes, risk factors, and thickness of the skin are different in trunk melanomas. Aim To determine the frequency of dermatoscopic features in trunk melanomas. This study also investigates dermoscopic features according to the diameter of lesions. Material and methods Seventy-one trunk melanomas were included. Their dermoscopic and clinical images, histopathological and clinical data were assessed. The relations between the diameter, Breslow thickness and dermoscopic characteristics were evaluated. Results The most common dermoscopic findings of trunk melanomas were the multicomponent pattern (55 patients, 77.5%), asymmetry (62 patients; 87.3%), blue-gray veil (59 patients, 83.1%), and color variety (56 patients, 78.8%). When dermoscopic findings were compared, a multicomponent pattern (p = 0.03), milky-red areas (p = 0.001), blue-gray veils (p = 0.023), and regression structures (p = 0.037) were more common in large melanomas than in small melanomas. Conclusions The most common dermoscopic findings of trunk melanomas were the multicomponent pattern, asymmetry and blue-gray veil, color variety. The multicomponent pattern, milky-red areas, blue-gray veils, regression structures were statistically significant dermoscopic features in a group of large-diameter melanomas, compared to small melanomas. PMID:25610350

  10. [Basilar type migraine: clinical features, differential diagnosis].

    PubMed

    Stulin, I D; Kunel'skaia, N L; Tardov, M V; BaÄ­bakova, E V; Chugunova, M A; Zaoeva, Z O; Tardova, I M

    2014-01-01

    The work is devoted to the description of neurological, vestibulometric and audiologic data obtained in the examination of 11 patients with basilar type migraine. The features of the disease (neck injuries before the disease, prolonged aura, protracted attacks, similarity with the clinical picture of stroke, occipital pain, cervical root syndrome, muscle-tonus phenomena and others) are described. A role of cervical pathology and labyrinthine hydrops in the disease pathogenesis as well as difficulties of differential diagnosis with Ménière's disease and Barre-Lieou syndrome are discussed. PMID:24662337

  11. Clinical mastitis in ewes; bacteriology, epidemiology and clinical features

    PubMed Central

    Mørk, Tormod; Waage, Steinar; Tollersrud, Tore; Kvitle, Bjørg; Sviland, Ståle

    2007-01-01

    Background Clinical mastitis is an important disease in sheep. The objective of this work was to identify causal bacteria and study certain epidemiological and clinical features of clinical mastitis in ewes kept for meat and wool production. Methods The study included 509 ewes with clinical mastitis from 353 flocks located in 14 of the 19 counties in Norway. Clinical examination and collection of udder secretions were carried out by veterinarians. Pulsed-field gel electrophoresis (PFGE) was performed on 92 Staphylococcus aureus isolates from 64 ewes. Results and conclusion S. aureus was recovered from 65.3% of 547 clinically affected mammary glands, coagulase-negative staphylococci from 2.9%, enterobacteria, mainly Escherichia coli, from 7.3%, Streptococcus spp. from 4.6%, Mannheimia haemolytica from 1.8% and various other bacteria from 4.9%, while no bacteria were cultured from 13.2% of the samples. Forty percent of the ewes with unilateral clinical S. aureus mastitis also had a subclinical S. aureus infection in the other mammary gland. Twenty-four of 28 (86%) pairs of S. aureus isolates obtained from clinically and subclinically affected mammary glands of the same ewe were indistinguishable by PFGE. The number of identical pairs was significantly greater than expected, based on the distribution of different S. aureus types within the flocks. One-third of the cases occurred during the first week after lambing, while a second peak was observed in the third week of lactation. Gangrene was present in 8.8% of the clinically affected glands; S. aureus was recovered from 72.9%, Clostridium perfringens from 6.3% and E. coli from 6.3% of the secretions from such glands. This study shows that S. aureus predominates as a cause of clinical ovine mastitis in Norway, also in very severe cases. Results also indicate that S. aureus is frequently spread between udder halves of infected ewes. PMID:17892567

  12. Clinical Features of Neonates with Hydrops Fetalis.

    PubMed

    An, Xiaoxia; Wang, Jimei; Zhuang, Xiaolei; Dai, Jiale; Lu, Chengqiu; Li, Xiaotian; Yan, Yingliu

    2015-11-01

    Objective?The objective of this study was to evaluate the clinical characteristics of neonates with hydrops fetalis to improve recognition of the disease. Patients and Methods?The clinical data of 10 neonates with hydrops fetalis were retrospectively studied. Prenatal characteristics, causes, clinical features, and prognosis were explored. Results?Eight neonates presenting abnormal nonstress test suffered from severe neonatal asphyxia at birth and were resuscitated by endotracheal intubation. Nine had skin edema, eight had pleural effusions with one unilateral and seven bilateral. Six had ascites, eight had polyhydramnios, one had multiple malformations and one had chromosome abnormalities. One survived and nine died. Six died due to resuscitation failure in delivery room, two died due to giving up after 1 day and one died due to the treatment failure after 6 months. Causes of hydrops fetalis were a congenital diaphragmatic hemangioma, recurrent atrial premature beats, genetic syndrome suspicious, Down syndrome, congenital pulmonary lymphangiectasia, anemia, paroxysmal supraventricular tachycardia, placental chorioangioma, and idiopathic edema. Conclusion?The prognosis varied because of different etiologies of hydrops fetalis. Severe cases frequently had skin edema and high rate of asphyxia at birth and difficult resuscitation. Timely intrauterine interventions were helpful for successful resuscitation. A well-prepared resuscitation team and the effectiveness of resuscitation could correlate to increasing survival rate. PMID:26070120

  13. Surface osteosarcoma: Clinical features and therapeutic implications

    PubMed Central

    Nouri, H.; Ben Maitigue, M.; Abid, L.; Nouri, N.; Abdelkader, A.; Bouaziz, M.; Mestiri, M.

    2015-01-01

    Introduction Surface osteosarcoma are rare variant of osteosarcoma that include parosteal osteosarcoma, periosteal osteosarcoma and high grade surface osteosarcoma. These lesions have different clinical presentation and biological behavior compared to conventional osteosarcoma, and hence need to be managed differently. Goal The aim of this study is to analyze the clinico-pathological features and outcome of a series of surface osteosarcoma in an attempt to define the adequate treatment of this rare entity. Patient and method It is a retrospective and bicentric study of 18 surface osteosarcoma that were seen at the KASSAB’s Institute and SAHLOUL Hospital from 2006 to 2013. The authors reviewed the clinical and radiologic features, histologic sections, treatments, and outcomes in this group of patients. Results Seven patients were male (38.9%) and 11 were female (61.1%) with mean age of 25 years (range from 16 to 55 years). Eleven lesions were in the femur and 7 in the tibia. We identified 11 parosteal osteosarcoma (six of them were dedifferentiated), 3 periosteal osteosarcoma and 4 high grade surface osteosarcoma. Six patients had neoadjuvant chemotherapy and all lesions had surgical resection. Margins were wide in 15 cases and intra lesional in 3 cases. Histological response to chemotherapy was poor in all cases. The mean follow up was 34.5 months. Six patients (33.3%) presented local recurrence and 8 patients (44.4%) presented lung metastases. Six patients (33.3%) died from the disease after a mean follow up of 12 months (6–30 months); all of them had high grade lesions. Conclusion Histological grade of malignancy is the main point to assess in surface osteosarcoma since it determines treatment and prognosis. Low grade lesions should be treated by wide resection, while high grade lesions need more aggressive surgical approach associated to post operative chemotherapy. PMID:26730360

  14. Clinical features of Bednar's aphthae in infants

    PubMed Central

    Nam, Seung-Woo; Ahn, Seol Hee; Shin, Son-Moon

    2016-01-01

    Purpose Although Bednar's aphthae are common and regress spontaneously, these lesions may lead to feeding intolerance and are often misdiagnosed, rendering examinations useless. This study sheds new light on the clinical features of Bednar's aphthae. Methods Sixteen neonates and infants were newly diagnosed with Bednar's aphthae via routine health check-ups in an outpatient clinic. Medical records were retrospectively reviewed, and the following parameters were analyzed; sex, gestational age, birth weight, mode of delivery, and perinatal problems. A physical examination was carried out during the next outpatient visit to examine the healing process and check for the existence of scars or complications. Results Initial presentation included changes in feeding habits (n=10), longer feeding time, reduced intake, and increased irritability. In 6 patients, Bednar's aphthae were discovered incidentally, without prior symptoms. Feeding posture and method of feeding are important causes of Bednar's aphthae. Eleven patients were fed in a horizontal position, whereas 5 patients were fed in a semiseated position. Fifteen patients were bottle-fed, whereas 1 patient was exclusively breastfed. After correcting the feeding position, the ulcerative lesions disappeared within 1 month of diagnosis. During the follow-up period, lesions did not recur in any of the patients. Conclusion This study suggests that Bednar's aphthae are caused by mechanical pressure. A diagnosis of Bednar's aphthae should be considered when lesions are found on the palate of infants and when symptoms seem to be feeding related. Proper education of parents can both treat Bednar's aphthae and easily prevent its recurrence. PMID:26893601

  15. Clinical features of leuko-araiosis.

    PubMed Central

    Tarvonen-Schröder, S; Röyttä, M; Räihä, I; Kurki, T; Rajala, T; Sourander, L

    1996-01-01

    OBJECTIVE: To study the clinical features of leuko-araiosis. METHODS: Age matched groups of patients with a CT finding of pure leukoaraiosis (n = 26) and a control group with a normal CT finding (n = 26) were formed (mean ages 78.6 (SD 3.3) v 76.5 (SD 4.6) years; NS). RESULTS: Dementia, vascular dementia, central brain atrophy on CT, disability in activities of daily living and instrumental activities of daily living, urinary incontinence, gait disorder (assistance needed), personality change, and night time confusion were found to be more commonly present in leuko-araiosis positive patients than in controls, whereas focal neurological symptoms and signs were not associated with leuko-araiosis. The occurrences of heart failure and systolic hypotension-but not hypertension-were higher in the leuko-araiosis positive group than in the controls. Leuko-araiosis was also found to be related to a less sudden onset of symptoms and a lower Hachinski score than true brain infarction(s). CONCLUSIONS: Leuko-araiosis on CT in these elderly patients seems to be a vascular disorder aetiologically different from brain infarction, with clinical manifestations of subtle onset and general disabling nature and no prominent focal neurological signs or symptoms. Images PMID:8774411

  16. Clinical features of intratarsal keratinous cysts.

    PubMed

    Kim, J A; Kim, N; Choung, H-K; Lee, M J; Lee, C; Khwarg, S I

    2016-01-01

    PurposeIntratarsal keratinous cysts (IKCs) have been frequently misdiagnosed as chalazia or epidermal cysts. We reviewed a series of cases of IKCs to identify clinical features that distinguish IKCs from other eyelid diseases.MethodsWe retrospectively reviewed the medical records of 17 suspected IKC patients between January 2004 and September 2014.ResultsSeventeen patients who were clinically suspected to have IKC were enrolled. All patients presented with non-inflamed eyelid nodules fixed to the tarsus. Among them, 12 biopsy specimens were available and 11 patients (91.7%) were diagnosed with IKC, with a pathological finding of stratified squamous cell lining with keratin material. The mean patient age was 55.1 years (31-71). Six patients had a surgical history of incision or incomplete excision of the lesion, followed by recurrence. On eyelid eversion, five patients showed a white-yellow nodule, and three patients had a bluish cystic lesion. The diameter of the nodules ranged from 4 to 10?mm. The intracystic material was a milky white fluid. Ten patients underwent a complete surgical excision including partial tarsectomy and there was no recurrence.ConclusionsIKC can be distinguished from other intratarsal lesions by a characteristic tarsal nodule fixed to the tarsus. To prevent recurrence, complete excision with partial tarsectomy is needed. PMID:26427989

  17. Urgent discectomy: Clinical features and neurological outcome

    PubMed Central

    Albert, Ruth; Lange, Max; Brawanski, Alexander; Schebesch, Karl-Michael

    2016-01-01

    Background: To evaluate the clinical features and outcome of patients with progressive neurological deficits due to disc herniation who were treated surgically within 24 h. Methods: We conducted a retrospective analysis of consecutive patients who were admitted between 2004 and 2013 via the Emergency Department. Records were screened for presenting symptoms, neurological status at admission, discharge, and 6-week follow-up. Results: About 72 of 526 patients underwent surgery within 24 h. Magnetic resonance imaging showed lumbar disc herniation in 72 patients. The most common presenting symptoms included radiculopathy (n = 69), the Lasègue sign (n = 60), sensory deficits (n = 57), or motor deficits (n = 47). In addition, 11 patients experienced perineal numbness and 12 had bowel and bladder dysfunction. At discharge, motor and sensory deficits and bowel and bladder dysfunction had improved significantly (P < 0.001, P = 0.029, and P = 0.015, respectively). Conclusion: Motor deficits, sensory deficits, and cauda equina dysfunction were significantly improved immediately after urgent surgery. After 6 weeks, motor and sensory deficits were also significantly improved compared to the neurological status at discharge. Thus, we advocate immediate surgery of disc herniation in patients with acute onset of motor deficits, perineal numbness, or bladder or bowel dysfunction indicative of cauda equina syndrome. PMID:26958423

  18. Dent's disease: clinical features and molecular basis.

    PubMed

    Claverie-Martín, Félix; Ramos-Trujillo, Elena; García-Nieto, Víctor

    2011-05-01

    Dent's disease is an X-linked recessive renal tubulopathy characterized by low-molecular-weight proteinuria (LMWP), hypercalciuria, nephrocalcinosis, nephrolithiasis, and progressive renal failure. LMWP is the most constant feature, while the other clinical manifestations show wide variability. Patients also present variable manifestations of proximal tubule dysfunctions, such as aminoaciduria, glucosuria, hyperphosphaturia, kaliuresis, and uricosuria, consistent with renal Fanconi syndrome. Dent's disease affects mainly male children, and female carriers are generally asymptomatic. In two-thirds of patients, the disease is caused by mutations in the CLCN5 gene, which encodes the electrogenic chloride/proton exchanger ClC-5. A few patients have mutations in OCRL1, the gene associated with the oculocerebrorenal syndrome of Lowe, which encodes a phosphatidylinositol-4,5-biphosphate-5-phosphatase (OCRL1). Both ClC-5 and OCRL1 are involved in the endocytic pathway for reabsorption of LMW proteins in the proximal tubule. This review will provide an overview of the important phenotypic characteristics of Dent's disease and summarize the molecular data that have significantly increased our comprehension of the mechanisms causing this disease. PMID:20936522

  19. MELAS syndrome and cardiomyopathy: linking mitochondrial function to heart failure pathogenesis.

    PubMed

    Hsu, Ying-Han R; Yogasundaram, Haran; Parajuli, Nirmal; Valtuille, Lucas; Sergi, Consolato; Oudit, Gavin Y

    2016-01-01

    Heart failure remains an important clinical burden, and mitochondrial dysfunction plays a key role in its pathogenesis. The heart has a high metabolic demand, and mitochondrial function is a key determinant of myocardial performance. In mitochondrial disorders, hypertrophic remodeling is the early pattern of cardiomyopathy with progression to dilated cardiomyopathy, conduction defects and ventricular pre-excitation occurring in a significant proportion of patients. Cardiac dysfunction occurs in approximately a third of patients with mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes (MELAS) syndrome, a stereotypical example of a mitochondrial disorder leading to a cardiomyopathy. We performed unique comparative ultrastructural and gene expression in a MELAS heart compared with non-failing controls. Our results showed a remarkable increase in mitochondrial inclusions and increased abnormal mitochondria in MELAS cardiomyopathy coupled with variable sarcomere thickening, heterogeneous distribution of affected cardiomyocytes and a greater elevation in the expression of disease markers. Investigation and management of patients with mitochondrial cardiomyopathy should follow the well-described contemporary heart failure clinical practice guidelines and include an important role of medical and device therapies. Directed metabolic therapy is lacking, but current research strategies are dedicated toward improving mitochondrial function in patients with mitochondrial disorders. PMID:26712328

  20. Kumbh Mela 2013: Healthcare for the millions.

    PubMed

    Cariappa, M P; Singh, B P; Mahen, A; Bansal, A S

    2015-07-01

    Mass gatherings pose challenges to healthcare systems anywhere in the world. The Kumbh Mela 2013 at Allahabad, India was the largest gathering of humanity in the history of mankind, and posed an exciting challenge to the provision of healthcare services. At the finale of the Mela, it was estimated that about 120 million pilgrims had visited the site. Equitable geospatial distribution of adhoc health care facilities were created on a standardised template with integrated planning of evacuation modalities. Innovative and low cost response measures for disaster mitigation were implemented. Emergency patient management kits were prepared and stocked across the health care facilities for crisis response. Dynamic resource allocation (in terms of manpower and supplies) based on patient volumes was done on a daily basis, in response to feedback. An adhoc mega township created on the banks of a perennial river (Ganga) in the Indian subcontinent for accommodating millions of Hindu pilgrims. Conventional mindset of merely providing limited and static healthcare through adhoc facilities was done away with. Innovative concepts such as riverine ambulances and disaster kits were introduced. Managing the medical aspects of a mass gathering mega event requires allocation of adequate funds, proactive and integrated medical planning and preparedness. PMID:26288497

  1. Early onset cardiomyopathy associated with the mitochondrial tRNALeu((UUR)) 3271T>C MELAS mutation.

    PubMed

    Brisca, Giacomo; Fiorillo, Chiara; Nesti, Claudia; Trucco, Federica; Derchi, Maria; Andaloro, Antonio; Assereto, Stefania; Morcaldi, Guido; Pedemonte, Marina; Minetti, Carlo; Santorelli, Filippo M; Bruno, Claudio

    2015-03-13

    Mitochondrial disorders are a heterogeneous group of diseases sharing a defect of the oxidative phosphorylation system. Point mutations in the mitochondrial DNA are a common cause of mitochondrial disorders and frequently affect the sequences encoding mitochondrial transfer RNAs. The m.3271T>C mutation in the mitochondrial tRNA(Leu(UUR)) is traditionally reported in patients with clinical features of the mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes (MELAS) syndrome and in mitochondrial diabetes. Here we describe the clinical, pathological, and molecular features of an Italian child and his asymptomatic mother, carrying the m.3271T>C mutation in the mitochondrial tRNA(Leu(UUR)) gene, in association with an unusual clinical phenotype dominated by hypertrophic cardiomyopathy and provide review literature of cases with this mutation. To the best of our knowledge, there are no reports describing the association of this mutation with cardiomyopathy, and our cases suggest that the m.3271T>C mutation has to be taken into account in the diagnostic approach of maternally inherited cardiomyopathies. PMID:25680467

  2. Landing Site and Exploration Zone in Eastern Melas Chasma

    NASA Astrophysics Data System (ADS)

    McEwen, A.; Chojnacki, M.; Miyamoto, H.; Hemmi, R.; Weitz, C.; Williams, R.; Quantin, C.; Flahaut, J.; Wray, J.; Turner, S.; Bridges, J.; Grebby, S.; Leung, C.; Rafkin, S.

    2015-10-01

    Eastern Melas Chasm may be the best human Exploration Zone for science and resources if enough water can be extracted from either the abundant recurring slope lineae or voluminous hydrated sulfates in this region.

  3. [Characteristics of anesthesia in patients with MELAS syndrome: Case report of anesthesia in video-assisted thoracoscopy].

    PubMed

    Haas, A; Wappler, F

    2015-10-01

    The mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes (MELAS) syndrome is a disease triggered by a disorder in energy production within mitochondria. The cause of this syndrome is a mutation in the mitochondrial DNA where in 80% of cases an A-to-G mutation is present at nucleotide 3243 and with a prevalence of 18.4/100,000 in the population. Predominantly affected are organ systems with a high energy metabolism, such as the heart, brain and musculature. During the premedication visit a thorough patient history and examination with respect to neurological impairments must be carried out. Epilepsy and the appropriate permanent medication lead to possible alterations in effectiveness of anesthetics and muscle relaxants which are difficult to predict. An extensive patient cardiac history and a preoperative electrocardiogram (ECG) for an appraisal of possible disorders in the cardiac conduction system and when necessary extended cardiac diagnostics, are recommended. The monitoring must be adapted depending on the functional limitations and the forthcoming intervention and when necessary a postoperative surveillance in an intensive care unit should be initiated. Knowledge of the special features of MELAS syndrome in association with a consideration of the characteristics of anesthesia in MELAS patients and an individually adapted intensified perioperative surveillance, can contribute to a reduction in perioperative morbidity in patients suffering from MELAS syndrome. PMID:26314741

  4. Arrhythmia as a cardiac manifestation in MELAS syndrome?

    PubMed Central

    Thomas, Tamara; Craigen, William J.; Moore, Ryan; Czosek, Richard; Jefferies, John L.

    2015-01-01

    A 44-year-old female with a diagnosis of mitochondrial myopathy, encephalopathy and stroke-like episodes (MELAS) syndrome had progressive left ventricular hypertrophy (LVH) on echocardiogram. A Holter monitor demonstrated episodes of non-sustained atrial tachycardia, a finding not been previously described in this population. This unique case of MELAS syndrome demonstrates the known associated cardiac manifestation of LVH and the new finding of atrial tachycardia which may represent the potential for subclinical arrhythmia in this population.

  5. Clinical features and diagnosis of venous thrombosis

    SciTech Connect

    Hirsh, J.; Hull, R.D.; Raskob, G.E.

    1986-12-01

    The clinical diagnosis of venous thrombosis is inaccurate because the clinical findings are both insensitive and nonspecific. The sensitivity of clinical diagnosis is low because many potentially dangerous venous thrombi are clinically silent. The specificity of clinical diagnosis is low because the symptoms or signs of venous thrombosis all can be caused by nonthrombotic disorders. A current approach to the diagnosis of clinically suspected venous thrombosis favors the use of impedance plethysmography over Doppler ultrasonography as the main test for this disorder. This is because impedance plethysmography is precise and objective, whereas the interpretation of Doppler ultrasonography is subjective and requires considerable skill and experience to form reliable diagnoses. The use of serial impedance plethysmography has been evaluated recently in a prospective study. The rationale of repeated impedance plethysmography evaluation is based on the premise that calf vein thrombi are only clinically important when they extend into the proximal veins, at which point detection with impedance plethysmography is possible. Therefore, by performing repeated examinations with impedance plethysmography in patients with clinically suspected venous thrombosis, it is possible to identify patients with extending calf vein thrombosis who can be treated appropriately. Impedance plethysmography is performed immediately on referral; if it is positive in the absence of clinical conditions that are known to produce falsely positive results, the diagnosis of venous thrombosis is established, and the patient is treated accordingly. If the result of the initial impedance plethysmography evaluation is negative, anticoagulant therapy is withheld, and impedance plethysmography is repeated the following day, again on day 5 to 7 and on day 10 to 14. 87 references.

  6. Pulmonary artery hypertension in a child with MELAS due to a point mutation of the mitochondrial tRNA((Leu)) gene (m.3243A>G).

    PubMed

    Sproule, D M; Dyme, J; Coku, J; de Vinck, D; Rosenzweig, E; Chung, W K; De Vivo, D C

    2008-12-01

    Although linked with cardiac dysfunction, the association of MELAS (mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes) and pulmonary artery hypertension (PAH) has not been previously described. PAH and right ventricular heart failure were identified by echocardiography in a 3-year-old boy with a history of hypotonia, microcephaly and developmental delay. He initially presented with a 10-day history of dyspnoea, dependent oedema and reduced oral intake. Lactic acidosis was noted on serial arterial blood sampling and cerebrospinal fluid. Muscle biopsy demonstrated cytochrome-c oxidase-positive 'ragged-red' fibres consistent with MELAS; subsequent analyses revealed the m.3243A>G point mutation most commonly associated with MELAS. The mutation was heteroplasmic, representing 92% of the total mtDNA from a lung sample. Nitric oxide and epoprostenol were administered without significant clinical or echocardiographic improvement of his PAH. A 'mitochondrial cocktail' including biotin, riboflavin, carnitine and coenzyme Q10 also was provided. Five months after presentation, he developed seizures; MRI imaging of his brain demonstrated multiple focal lesions. His clinical status worsened with increasing cardiopulmonary failure. He died two months later. Although therapy for both MELAS and PAH remains limited, recent investigations suggest a beneficial role for l-arginine in both conditions, implying a possible common pathophysiology. Mitochondrial diseases such as MELAS should be considered in cases of idiopathic PAH, particularly when associated with multisystem involvement including short stature, hearing loss, renal dysfunction, retinopathy, diabetes mellitus, migraines, seizures, ophthalmoplegia, fatigability and weakness. PMID:18181029

  7. Hypophosphatemic rickets: etiology, clinical features and treatment.

    PubMed

    Pavone, Vito; Testa, Gianluca; Gioitta Iachino, Salvatore; Evola, Francesco Roberto; Avondo, Sergio; Sessa, Giuseppe

    2015-02-01

    Hypophosphatemic rickets (HR) is a genetic disorder, which prevents sufficient reabsorption of phosphate in the proximal renal tubule, with increased phosphate excretion, resulting in rickets. The more common form of HR is an X-linked inherited trait, with a prevalence of 1/20,000. The defective gene is located on the X chromosome, but females may present with a wide variety of clinical manifestations. The less common form of HR is caused by autosomal-dominant transmission. Activating mutations of the fibroblast growth factor 23 (FGF-23) gene and inactivating mutations in the phosphate regulating gene (PHEX gene with homologies to endopeptidases on the X chromosome), involved in the regulation of FGF-23, have been identified and have been implicated in the pathogenesis of these disturbances. A review of etiopathogenesis and clinical, differential diagnostic and therapeutic aspects of HR, with a particular emphasis on bone impairment, is reported. PMID:24957364

  8. Clinical features, diagnosis and treatment of narcolepsy.

    PubMed

    Ahmed, Imran; Thorpy, Michael

    2010-06-01

    Narcolepsy is characterized by excessive daytime sleepiness, cataplexy, sleep paralysis, and hypnagogic/hypnapompic hallucinations. It is currently believed to be caused by a deficiency in hypocretin-producing neurons in the lateral hypothalamus. Diagnosis is by the presence of appropriate clinical symptoms and confirmation by a polysomnogram followed by a multiple sleep latency test. There are nonpharmacologic (eg, scheduled naps, following proper sleep hygiene) and symptom-directed pharmacologic (eg, central nervous system stimulants, modafinil, sodium oxybate, certain antidepressants) treatments that are usually used together for optimal management of narcolepsy. PMID:20488294

  9. Cortical auditory disorders: clinical and psychoacoustic features.

    PubMed Central

    Mendez, M F; Geehan, G R

    1988-01-01

    The symptoms of two patients with bilateral cortical auditory lesions evolved from cortical deafness to other auditory syndromes: generalised auditory agnosia, amusia and/or pure word deafness, and a residual impairment of temporal sequencing. On investigation, both had dysacusis, absent middle latency evoked responses, acoustic errors in sound recognition and matching, inconsistent auditory behaviours, and similarly disturbed psychoacoustic discrimination tasks. These findings indicate that the different clinical syndromes caused by cortical auditory lesions form a spectrum of related auditory processing disorders. Differences between syndromes may depend on the degree of involvement of a primary cortical processing system, the more diffuse accessory system, and possibly the efferent auditory system. Images PMID:2450968

  10. Punctate follicular porokeratosis: clinical and pathologic features.

    PubMed

    Trikha, Ritika; Wile, Anna; King, Joy; Ward, Kimberley H M; Brodell, Robert T

    2015-11-01

    Porokeratosis is a disorder of keratinization characterized by an abnormal cornoid lamella surrounding an annular, scaly plaque with an atrophic center. A histologic variant of this condition has been proposed, termed follicular porokeratosis, in cases where follicular involvement was contiguous with an annular cornoid lamella. There has been only 1 report of punctate follicular porokeratosis, in which cornoid lamellae originated exclusively from hair follicles with no associated annular plaque. The authors present the second case of punctate follicular porokeratosis, further supporting the contention that this entity is a unique form of porokeratosis rather than a histologic variant. A 56-year-old African American female presented to the dermatology clinic with a 3-month history of keratotic lesions localized on the right posterior shoulder. Examination revealed an area of perifollicular keratotic papules, each surrounded by an erythematous rim. Histopathology revealed a cornoid lamella originating within a hair follicle, with the parakeratotic column protruding through the follicular orifice. The static nature of the condition along with exclusive involvement of hair follicles supports the notion of punctate follicular porokeratosis as a distinct clinical entity. The diagnosis of this condition relies heavily on proper histopathologic sampling revealing punctate follicular cornoid lamellae. PMID:26485244

  11. Clinical Features and Outcome of Mucormycosis

    PubMed Central

    Camara-Lemarroy, Carlos Rodrigo; González-Moreno, Emmanuel Irineo; Rodríguez-Gutiérrez, René; Rendón-Ramírez, Erick Joel; Ayala-Cortés, Ana Sofía; Fraga-Hernández, Martha Lizeth; García-Labastida, Laura; Galarza-Delgado, Dionicio Ángel

    2014-01-01

    Mucormycosis (MCM) is a life-threatening infection that carries high mortality rates despite recent advances in its diagnosis and treatment. The objective was to report 14 cases of mucormycosis infection and review the relevant literature. We retrospectively analyzed the demographic and clinical data of 14 consecutive patients that presented with MCM in a tertiary-care teaching hospital in northern Mexico. The mean age of the patients was 39.9 (range 5–65). Nine of the patients were male. Ten patients had diabetes mellitus as the underlying disease, and 6 patients had a hematological malignancy (acute leukemia). Of the diabetic patients, 3 had chronic renal failure and 4 presented with diabetic ketoacidosis. All patients had rhinocerebral involvement. In-hospital mortality was 50%. All patients received medical therapy with polyene antifungals and 11 patients underwent surgical therapy. Survivors were significantly younger and less likely to have diabetes than nonsurvivors, and had higher levels of serum albumin on admission. The clinical outcome of patients with MCM is poor. Uncontrolled diabetes and age are negative prognostic factors. PMID:25210515

  12. Moyamoya Disease: Epidemiology, Clinical Features, and Diagnosis

    PubMed Central

    Kim, Jong S.

    2016-01-01

    Moyamoya disease (MMD) is a chronic, occlusive cerebrovascular disease characterized by progressive stenosis at the terminal portion of the internal carotid artery and an abnormal vascular network at the base of the brain. Although its etiology remains unknown, recent genetic studies identified RNF213 in the 17q25-ter region as an important susceptibility gene of MMD among East Asian populations. Possibly because of genetic differences, MMD is relatively common in people living in East Asian countries such as Korea and Japan, compared to those in the Western Hemisphere. The prevalence of MMD appears to be slightly lower among Chinese, compared to Koreans or Japanese. There are two peaks of incidence with different clinical presentations, at around 10 years and 30-40 years. The peak appears to occur later in women than men. In children, ischemic symptoms, especially transient ischemic attacks, are predominant. Intellectual decline, seizures, and involuntary movements are also more common in this age group. In contrast, adult patients present with intracranial hemorrhage more often than pediatric patients. In patients with MMD, intracerebral hemorrhage is more often accompanied by intraventricular hemorrhage than in patients with hypertensive intracerebral hemorrhage. These different age peaks and different clinical presentations in each age group are also observed in MMD patients in the USA. Catheter angiography is the diagnostic method of choice. Magnetic resonance (MR) angiography and computed tomographic angiography are noninvasive diagnostic methods. High-resolution vessel wall MR imaging also helps diagnose MMD by revealing concentric vessel wall narrowing with basal collaterals. PMID:26846755

  13. Benign Occipital Epilepsies of Childhood: Clinical Features and Genetics

    ERIC Educational Resources Information Center

    Taylor, Isabella; Berkovic, Samuel F.; Kivity, Sara; Scheffer, Ingrid E.

    2008-01-01

    The early and late benign occipital epilepsies of childhood (BOEC) are described as two discrete electro-clinical syndromes, eponymously known as Panayiotopoulos and Gastaut syndromes. Our aim was to explore the clinical features, classification and clinical genetics of these syndromes using twin and multiplex family studies to determine whether…

  14. Benign Occipital Epilepsies of Childhood: Clinical Features and Genetics

    ERIC Educational Resources Information Center

    Taylor, Isabella; Berkovic, Samuel F.; Kivity, Sara; Scheffer, Ingrid E.

    2008-01-01

    The early and late benign occipital epilepsies of childhood (BOEC) are described as two discrete electro-clinical syndromes, eponymously known as Panayiotopoulos and Gastaut syndromes. Our aim was to explore the clinical features, classification and clinical genetics of these syndromes using twin and multiplex family studies to determine whether…

  15. Dengue illness: clinical features and pathogenesis.

    PubMed

    Oishi, Kazunori; Saito, Mariko; Mapua, Cynthia A; Natividad, Filipinas F

    2007-06-01

    The incidence and geographical distribution of dengue has gradually increased during the past decade. This review is an update on dengue virus infections, based on our clinical and laboratory experiences in the Philippines and on other relevant literature. The differential diagnosis of this disease is discussed, especially for use by clinicians where dengue is not endemic. The complex pathogenesis of thrombocytopenia and increased vascular permeability in dengue illness is also discussed. Our recent data suggest that platelet-associated immunoglobulins involving anti-dengue virus activity play a pivotal role in the development of dengue hemorrhagic fever (DHF), as well as thrombocytopenia in secondary dengue virus infections. Further elucidation is needed on the involvement of platelet-associated immunoglobulins on the molecular mechanisms of thrombocytopenia and the increased vascular permeability. PMID:17593497

  16. [Clinical features and history of vasovagal syncope].

    PubMed

    Dupliakov, D V; Golovina, G A; Sysuenkova, E V; Glukhova, V L; Liukshina, N G

    2012-01-01

    Aim of this investigation was to study special characteristics of natural course of vasovagal syncope (VVS). During 3 years we examined 212 patients (44% men) in accordance with recommendations of European Society of Cardiology using tilt tests according to Westminster or Italian protocols for confirmation of vasovagal genesis. Depending on results of initial investigation patients were divided into 2 groups: group 1 comprised 144 patients (68%) satisfying criteria of VVS; group 2 comprised other patients (n=41, 19%) with transitory loss of consciousness of unclear origin. Patients with VVS were significantly younger (mean age 35.1+/-13.6 and 44.4+/-13.,9 years, respectively; <0.01) with earlier appearance of first episode of fainting (16 vs. 39 years; <0,01). In most cases VVS appeared in the age younger than 35 years. Accuracy of anamnestic method for diagnosis of VVS was 99%. Forty one percent of patients with classical VVS had several potential causes of fainting (situational syncope, paroxysms of tachyarrhythmia, epilepcy). This could lead to mistakes at initial stage of diagnostics. Progressive clinical course was observed in 15% of patients and was associated either with syncopi of other, including nonvagal origin, or with increased frequency of previously stereotypical attacks. In every second patient with initially frequent recurrences of VVS we observed long spontaneous remissions. Nondrug methods of treatment were effective in 43% of these patients. Tilt test had high informative power for diagnostics of VVS. With this its informativity was low in patients with onset of fainting attacks in middle age and with atypical clinical picture. PMID:22839586

  17. Groshong catheters: technical aspects and clinical features.

    PubMed

    Campisi, C; Camillucci, L; Campopiano, A; Fanizza, C; Sardonio, A

    2000-01-01

    After thousands of Groshong catheter applications over more than twenty years, the cause of blood withdrawal drawbacks is not yet completely understood. This phenomenon - which is not typical of closed-tip catheters since it is also common in open-tip catheters - in the Groshong catheter is attributed to the valve (ball-valve effect). The aim of this work is to understand the relationship between causes and effects in order to provide clinicians with practical solutions. Out of the 16 catheters examined, we observed no clear correlation among electron microscope ultrastructural analysis, valve closing pressure, intraluminal clots and clinical failures after different implantation times up to a maximum of 36 months. The ultrastructural analysis revealed an optimal no-time-related aspect for internal and external surfaces, while the closing pressure in each case was compatible with the efficiency of the working valve (range 22-36 cmH 2 O). We conclude that the blood withdrawal drawbacks cannot be attributed to a single cause and certainly not to the silicone biostability or directly to the valve. Different studies are suggesting that clinical failures can be the re-sult of several different causes such as slime or clots in the internal catheter surfaces and fibrin sleeve in the external catheter surfaces. These are common causes in open-tip catheters and we believe that the presence of valves on the tip of the Groshong may encourage inferences. Our suggestion is to place the tip of the Groshong catheter in atrium one centimetre after the junction with the vena cava. After the implant, it is possible to remove the causes of drawbacks by strong flushing using a 5-ml syringe and/or postural manoeuvres. PMID:17638221

  18. LEOPARD Syndrome: Clinical Features and Gene Mutations

    PubMed Central

    Martínez-Quintana, E.; Rodríguez-González, F.

    2012-01-01

    The RAS/MAPK pathway proteins with germline mutations in their respective genes are associated with some disorders such as Noonan, LEOPARD (LS), neurofibromatosis type 1, Costello and cardio-facio-cutaneous syndromes. LEOPARD is an acronym, mnemonic for the major manifestations of this disorder, characterized by multiple lentigines, electrocardiographic abnormalities, ocular hypertelorism, pulmonic stenosis, abnormal genitalia, retardation of growth, and sensorineural deafness. Though it is not included in the acronym, hypertrophic cardiomyopathy is the most frequent cardiac anomaly observed, representing a potentially life-threatening problem in these patients. PTPN11, RAF1 and BRAF are the genes known to be associated with LS, identifying molecular genetic testing of the 3 gene mutations in about 95% of affected individuals. PTPN11 mutations are the most frequently found. Eleven different missense PTPN11 mutations (Tyr279Cys/Ser, Ala461Thr, Gly464Ala, Thr468Met/Pro, Arg498Trp/Leu, Gln506Pro, and Gln510Glu/Pro) have been reported so far in LS, 2 of which (Tyr279Cys and Thr468Met) occur in about 65% of the cases. Here, we provide an overview of clinical aspects of this disorder, the molecular mechanisms underlying pathogenesis and major genotype-phenotype correlations. PMID:23239957

  19. [Oral candidiasis: clinical features and control].

    PubMed

    Yamamoto, Tetsuya

    2010-10-01

    Candidiasis is the most commonly encountered fungal infection, and oral candidiasis is often observed as a local opportunistic infection. Oral candidiasis is clinically divided into three types: acute forms, chronic forms, and Candida-associated lesions. Candida adhesion and multiplication are largely regulated by the local and systemic factors of the host. The local factors include impairment of the oral mucosal integrity, which is usually impaired by hyposalivation, anticancer drugs/radiation for head and neck cancers, denture wearing, a decrease in the oral bacterial population, and poor oral hygiene. Among Candida species, oral candidiasis is mostly caused by Candida albicans (C. albicans), C. glabrata, or C. tropicalis. Oral Candida induces a variety of symptoms, such as oral mucosal inflammation manifesting as an uncomfortable feeling, pain, erythema, erosion, taste abnormalities, and hyperplasia of the oral mucosa. Candida overgrowth in the oral cavity may disseminate to distant organs. Therefore, in order to avoid the sequelae of systemic candidiasis, oral candidiasis should be rapidly controlled. Oral candidiasis is usually treated by the local application of antifungal drugs. However, oral candidiasis occasionally escapes the control of such local treatment due to the development of multi-drug resistant Candida strains and species or due to the suppression of salivation or cellular immune activity. When drug-resistant strains are suspected as the pathogens and when the host is generally compromised, the oral administration of combinations of antifungal drugs, enhancement of cellular immune activity, and improvement of the nutritional condition are recommended. PMID:21077293

  20. Clinical features and pathophysiology of belching disorders

    PubMed Central

    Sun, Xiaomin; Ke, Meiyun; Wang, Zhifeng

    2015-01-01

    The symptomatic characteristics and psychosocial factors of belching were analyzed through questionnaire, and the pathophysiology of belch was studied with the combined methods of high-resolution manometry and impedance (HRM-IMP). 21 consecutively-enrolled patients with repeated belching, were conducted a questionnaire survey, and the data were analyzed with Pearson correlation analysis and exact propability method. 10 patients were performed HRM-IMP. 20 patients met the diagnostic criteria of belch, among who 17 cases had overlapped symptoms, and the functional dyspepsia was the most common, followed by gastroesophageal reflux disease; 16 patients experienced mental stimulation or negative events; 12 cases existed anxiety and (or) depression; 8 cases had neurotic personality. The number of the overlapped symptoms was associated with the anxiety status, while the belch severity had nothing to do with the anxiety/depression status. Among the 10 patients who accepted HRM-IMP, 9 existed the esophageal motility dysfunction, and 9 had supra-gastric belching. Belch had a variety of clinical manifestations, related to the mood changes and the environmental stress, and normally was combined with the abnormalities of psychology and personality traits. The belch patients normally experienced the esophageal motility disorders, among which the typical pattern was supra-gastric belching. PMID:26885161

  1. [Narcolepsy: etiology, clinical features, diagnosis and treatment].

    PubMed

    Zawilska, Jolanta B; Woldan-Tambor, Agata; Płocka, Anna; Kużajska, Katarzyna; Wojcieszak, Jakub

    2012-01-01

     Narcolepsy is a chronic hypersomnia characterized by excessive daytime sleepiness (EDS) and manifestations of disrupted rapid eye movement sleep stage (cataplexy, sleep paralysis, and hypnagogic/hypnopompic hallucinations). Mechanisms underlying narcolepsy are not fully understood. Experimental data indicate that the disease is caused by a loss of hypocretin neurons in the hypothalamus, likely due to an autoimmune process triggered by environmental factors in susceptible individuals. Most patients with narcolepsy and cataplexy have very low hypocretin-1 levels in the cerebrospinal fluid. An appropriate clinical history, polysomnogram, and multiple sleep latency test are necessary for diagnosis of the disease. Additionally, two biological markers, i.e., cerebrospinal fluid hypocretin-1 levels and expression of the DQB1*0602 gene, are used. The treatment of narcolepsy is aimed at the different symptoms that the patient manifests. Excessive daytime sleepiness is treated with psychostimulants (amphetamine-like, modafinil and armodafinil). Cataplexy is treated with sodium oxybate (GHB), tricyclic antidepressants, or selective serotonin and noradrenaline reuptake inhibitors. Sleep paralysis, hallucinations, and fragmented sleep may be treated with sodium oxybate. Patients with narcolepsy should follow proper sleep hygiene and avoid strong emotions. PMID:23175331

  2. Ridged Terrain on the Floor Melas Chasma

    NASA Technical Reports Server (NTRS)

    2000-01-01

    Are these dunes? One of the most puzzling findings of the Mars Global Surveyor Mars Orbiter Camera investigation has been the discovery of many surfaces of sharp, parallel ridges and grooves that--at first glance--look like dunes, but upon closer inspection turn out to be something else. They aren't dunes because they occur too close together, their crests are too sharp, and their slopes are too symmetrical. In most places that they occur on Mars, they appear to be occurring within a specific layer of (usually) dark material. Exactly what processes make these ridges is a mystery, but it clearly involves some sort of erosion. Dark mesas in this picture of the floor of Melas Chasma in the Valles Marineris system are developing sharp, parallel troughs and pits that appear to eventually erode to become the fields of ridges seen throughout the rest of the image. Dark, ridged surfaces like this are common in the central floors of Valles Marineris and elsewhere in the equatorial regions of Mars, and present a type of surface that may need to be avoided by future Mars landers. This image, illuminated by sunlight from the left, covers an area 3 kilometers (1.9 miles) wide and 14.5 kilometers (9 miles) long. The scene is located near 8.8oS, 76.8oW and was acquired on March 22, 1999.

  3. Polymicrobial Infective Endocarditis: Clinical Features and Prognosis.

    PubMed

    García-Granja, Pablo Elpidio; López, Javier; Vilacosta, Isidre; Ortiz-Bautista, Carlos; Sevilla, Teresa; Olmos, Carmen; Sarriá, Cristina; Ferrera, Carlos; Gómez, Itziar; Román, José Alberto San

    2015-12-01

    To describe the profile of left-sided polymicrobial endocarditis (PE) and to compare it with monomicrobial endocarditis (ME).Among 1011 episodes of left-sided endocarditis consecutively diagnosed in 3 tertiary centers, between January 1, 1996 and December 31, 2014, 60 were polymicrobial (5.9%), 821 monomicrobial (81.7%), and in 123 no microorganism was detected (12.2%). Seven patients (0.7%) were excluded from the analysis because contamination of biologic tissue could not be discarded. The authors described the clinical, microbiologic, echocardiographic, and outcome of patients with PE and compared it with ME.Mean age was 64 years SD 16 years, 67% were men and 30% nosocomial. Diabetes mellitus (35%) were the most frequent comorbidities, fever (67%) and heart failure (43%) the most common symptoms at admission. Prosthetic valves (50%) were the most frequent infection location and coagulase-negative Staphylococci (48%) and enterococci (37%) the leading etiologies. The most repeated combination was coagulase-negative Staphylococci with enterococci (n?=?9). Polymicrobial endocarditis appeared more frequently in patients with underlying disease (70% versus 56%, P?=?0.036), mostly diabetics (35% versus 24%, P?=?0.044) with previous cardiac surgery (15% versus 8% P?=?0.049) and prosthetic valves (50% versus 37%, P?=?0.038). Coagulase-negative Staphylococci, enterococci, Gram-negative bacilli, anaerobes, and fungi were more frequent in PE. No differences on age, sex, symptoms, need of surgery, and in-hospital mortality were detected.Polymicrobial endocarditis represents 5.9% of episodes of left-sided endocarditis in our series. Despite relevant demographic and microbiologic differences between PE and ME, short-term outcome is similar. PMID:26656328

  4. Clinical Features of Lysosomal Acid Lipase Deficiency

    PubMed Central

    Burton, Barbara K.; Deegan, Patrick B.; Enns, Gregory M.; Guardamagna, Ornella; Horslen, Simon; Hovingh, Gerard K.; Lobritto, Steve J.; Malinova, Vera; McLin, Valerie A.; Raiman, Julian; Di Rocco, Maja; Santra, Saikat; Sharma, Reena; Sykut-Cegielska, Jolanta; Whitley, Chester B.; Eckert, Stephen; Valayannopoulos, Vassili; Quinn, Anthony G.

    2015-01-01

    Abstract Objective: The aim of this study was to characterize key clinical manifestations of lysosomal acid lipase deficiency (LAL D) in children and adults. Methods: Investigators reviewed medical records of LAL D patients ages ?5 years, extracted historical data, and obtained prospective laboratory and imaging data on living patients to develop a longitudinal dataset. Results: A total of 49 patients were enrolled; 48 had confirmed LAL D. Mean age at first disease-related abnormality was 9.0 years (range 0–42); mean age at diagnosis was 15.2 years (range 1–46). Twenty-nine (60%) were male patients, and 27 (56%) were <20 years of age at the time of consent/assent. Serum transaminases were elevated in most patients with 458 of 499 (92%) of alanine aminotransferase values and 265 of 448 (59%) of aspartate aminotransferase values above the upper limit of normal. Most patients had elevated low-density lipoprotein (64% patients) and total cholesterol (63%) at baseline despite most being on lipid-lowering therapies, and 44% had high-density lipoprotein levels below the lower limit of normal. More than half of the patients with liver biopsies (n?=?31, mean age 13 years) had documented evidence of steatosis (87%) and/or fibrosis (52%). Imaging assessments revealed that the median liver volume was ?1.15 multiples of normal (MN) and median spleen volume was ?2.2 MN. Six (13%) patients had undergone a liver transplant (ages 9–43.5 years). Conclusion: This study provides the largest longitudinal case review of patients with LAL D and confirms that LAL D is predominantly a pediatric disease causing early and progressive hepatic dysfunction associated with dyslipidemia that often leads to liver failure and transplantation. PMID:26252914

  5. GENETIC ISOLATION WITHIN THE MALARIA MOSQUITO ANOPHELES MELAS

    PubMed Central

    Deitz, Kevin C; Athrey, Giri; Reddy, Michael R; Overgaard, Hans J; Matias, Abrahan; Jawara, Musa; della Torre, Alessandra; Petrarca, Vincenzo; Pinto, Joao; Kiszewski, Anthony; Kengne, Pierre; Costantini, Carlo; Caccone, Adalgisa; Slotman, Michel A

    2014-01-01

    Anopheles melas is a brackish water-breeding member of the An. gambiae complex that is distributed along the coast of West Africa and is a major malaria vector within its range. Because little is known about the population structure of this species, we analyzed 15 microsatellite markers and 1,161 bp of mtDNA in 11 An. melas populations collected throughout its range. Compared to its sibling species An. gambiae, An. melas populations have a high level of genetic differentiation between them, representing its patchy distribution due to its fragmented larval habitat which is associated with mangroves and salt marsh grass. Populations clustered into three distinct groups representing Western Africa, Southern Africa, and Bioko Island populations that appear to be mostly isolated. Fixed differences in the mtDNA are present between all three clusters, and a Bayesian clustering analysis of the microsatellite data found no evidence for migration from mainland to Bioko Island populations, and little migration was evident between the Southern to the Western cluster. Surprisingly, mtDNA divergence between the three An. melas clusters is on par with levels of divergence between other species of the An. gambiae complex, and no support for monophyly was observed in a maximum likelihood phylogenetic analysis. Finally, an Approximate Bayesian Analysis of microsatellite data indicates that Bioko Island An. melas populations were connected to the mainland populations in the past, but became isolated, presumably when sea levels rose after the last glaciation period (?10,000-11,000 years ago). This study has exposed species level genetic divergence within An. melas, and also has implications for control of this malaria vector. PMID:22882458

  6. Mixtures of clays and sulfates within deposits in western Melas Chasma, Mars

    NASA Astrophysics Data System (ADS)

    Weitz, Catherine M.; Noe Dobrea, Eldar; Wray, James J.

    2015-05-01

    We have utilized several data sets from multiple spacecraft that have been acquired over a continuous observation campaign across the southwestern Melas Chasma region of Mars. The blocky deposit observed on the chasma floor and on portions of the southern wallrock consists of mixtures of light- and medium-toned materials that exhibit displacement structures consistent with transport down the wallrock and onto the chasma floor. CRISM visible and near-infrared reflectance spectra of the light-toned blocks suggest mixtures of nontronite, jarosite, Al-clays, hydrated silica, and/or an acid leached clay. The medium-toned blocks typically lack spectral features or exhibit signatures of polyhydrated sulfates. Bright layered mounds embayed by blocky deposit materials display spectra consistent with Ca-sulfates (gypsum and/or bassanite) that may have resulted from precipitation of less soluble Ca-rich minerals during ponding and evaporation of dilute fluids along the western chasma floor. Draping across some wallrock slopes is a light-toned deposit that sometimes overlies a blocky, layered, and spectrally bland medium-toned deposit. The light-toned deposit exhibits spectra consistent with mixtures of materials that may include jarosite, acid-leached clays, silica, poorly crystalline clays, and polyhydrated sulfates. Hesperian-age valleys dissect the medium-toned deposit along some wallrock slopes and may be partially filled in by light-toned deposits. The draping nature of these deposits can best be explained by airfall, either volcanic ash or atmospheric dust, with ice/snow accumulation perhaps controlling sedimentation along the wallrock. An examination of other regional hydrated deposits around southwestern Melas indicates similar draping deposits occur farther east and west along the wallrock, whereas layered sulfates to the southeast consist of monohydrated and polyhydrated sulfates that are similar to interior layered deposits found in many of the chasmata. Small opal and jarosite exposures within the Melas basin and along the nearby plateau are most likely the result of younger localized alteration and deposition. The diversity of hydrated minerals and fluvial features indicates multiple episodes of aqueous activity under distinct environmental conditions occurred throughout southwestern Melas Chasma during the Hesperian to Amazonian that may be contemporaneous with late aqueous activity elsewhere on Mars.

  7. L-Arginine Affects Aerobic Capacity and Muscle Metabolism in MELAS (Mitochondrial Encephalomyopathy, Lactic Acidosis and Stroke-Like Episodes) Syndrome

    PubMed Central

    Rodan, Lance H.; Wells, Greg D.; Banks, Laura; Thompson, Sara; Schneiderman, Jane E.; Tein, Ingrid

    2015-01-01

    Objective To study the effects of L-arginine (L-Arg) on total body aerobic capacity and muscle metabolism as assessed by 31Phosphorus Magnetic Resonance Spectroscopy (31P-MRS) in patients with MELAS (Mitochondrial Encephalomyopathy with Lactic Acidosis and Stroke-like episodes) syndrome. Methods We performed a case control study in 3 MELAS siblings (m.3243A>G tRNAleu(UUR) in MTTL1 gene) with different % blood mutant mtDNA to evaluate total body maximal aerobic capacity (VO2peak) using graded cycle ergometry and muscle metabolism using 31P-MRS. We then ran a clinical trial pilot study in MELAS sibs to assess response of these parameters to single dose and a 6-week steady-state trial of oral L-Arginine. Results At baseline (no L-Arg), MELAS had lower serum Arg (p = 0.001). On 31P-MRS muscle at rest, MELAS subjects had increased phosphocreatine (PCr) (p = 0.05), decreased ATP (p = 0.018), and decreased intracellular Mg2+ (p = 0.0002) when compared to matched controls. With L-arginine therapy, the following trends were noted in MELAS siblings on cycle ergometry: (1) increase in mean % maximum work at anaerobic threshold (AT) (2) increase in % maximum heart rate at AT (3) small increase in VO2peak. On 31P-MRS the following mean trends were noted: (1) A blunted decrease in pH after exercise (less acidosis) (2) increase in Pi/PCr ratio (ADP) suggesting increased work capacity (3) a faster half time of PCr recovery (marker of mitochondrial activity) following 5 minutes of moderate intensity exercise (4) increase in torque. Significance These results suggest an improvement in aerobic capacity and muscle metabolism in MELAS subjects in response to supplementation with L-Arg. Intramyocellular hypomagnesemia is a novel finding that warrants further study. Classification of Evidence Class III evidence that L-arginine improves aerobic capacity and muscle metabolism in MELAS subjects. Trial Registration ClinicalTrials.gov NCT01603446. PMID:25993630

  8. MERRF/MELAS overlap syndrome due to the m.3291T>C mutation.

    PubMed

    Liu, Kaiming; Zhao, Hui; Ji, Kunqian; Yan, Chuanzhu

    2014-03-01

    We report the case of a 19-year-old Chinese female harboring the m.3291T>C mutation in the MT-TL1 gene encoding the mitochondrial transfer RNA for leucine. She presented with a complex phenotype characterized by progressive cerebellar ataxia, frequent myoclonus seizures, recurrent stroke-like episodes, migraine-like headaches with nausea and vomiting, and elevated resting lactate blood level. It is known that the myoclonus epilepsy with ragged-red fibers (MERRF) is characterized by cerebellar ataxia and myoclonus epilepsy, while that the mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) is characterized by recurrent stroke-like episodes, migraine-like headaches, and elevated resting lactate blood level. So the patient's clinical manifestations suggest the presence of a MERRF/MELAS overlap syndrome. Muscle biopsy of the patient showed the presence of numerous scattered ragged-red fibers, some cytochrome c oxidase-deficient fibers, and several strongly succinate dehygrogenase-reactive vessels, suggestive of a mitochondrial disorder. Direct sequencing of the complete mitochondrial genome of the proband revealed no mutations other than the T-to-C transition at nucleotide position 3291. Restriction fragment length polymorphism analysis of the proband and her family revealed maternal inheritance of the mutation in a heteroplasmic manner. The analysis of aerobic respiration and glycolysis demonstrated that the fibroblasts from the patient had mitochondrial dysfunction. Our results suggest that the m.3291T>C is pathogenic. This study is the first to describe the m.3291T>C mutation in association with the MERRF/MELAS overlap syndrome. PMID:24338029

  9. Sigmoid volvulus in a patient with mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (MELAS): a rare occurrence.

    PubMed

    Hallac, Alexander; Keshava, Hari B; Morris-Stiff, Gareth; Ibrahim, Samuel

    2016-01-01

    Mitochondrial diseases are rare and devastating, with a wide spectrum of clinical presentations and systemic symptoms. The majority of the published literature focuses on the neuromuscular manifestations and genetic components of this mitochondrial cytopathy, however, cardiac, renal, endocrine and gastrointestinal manifestations may also be present. The authors report a case detailing a 56-year-old woman's final hospitalisation from the gastrointestinal sequelae of mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (MELAS) (Co Q10 deficiency variant). She presented with abdominal pain and distension associated with lactic acidosis, and was shown on imaging to have a colon perforation. This resulted in emergent surgery at which a necrotic colon secondary to a sigmoid colon was identified. Following four subsequent operations, and the development of multiorgan failure, care was eventually withdrawn. Practitioners of patients with MELAS should be cognisant of the rare but devastating gastrointestinal consequences of mitochondrial diseases. PMID:26935953

  10. Oral candidosis. Clinical, historical, and therapeutic features of 100 cases.

    PubMed

    Fotos, P G; Vincent, S D; Hellstein, J W

    1992-07-01

    Oral candidosis is an increasingly important disease that affects a significant percentage of the population. Traditionally known as an opportunistic pathogen, the broader clinical scope of oropharyngeal candidal infections is now being recognized. The clinical and historical features of 100 patients referred for diagnosis and management of candidosis have been reviewed. The age, gender, chief complaint, medical history, medications, and clinical findings have been noted. A wide range of clinical signs and symptoms, and the rationale behind the topical and systemic antifungal therapies provided to this patient population, are discussed. PMID:1508508

  11. Update on Clinical Features and Brain Abnormalities in Neurogenetics Syndromes

    ERIC Educational Resources Information Center

    Jackowski, Andrea Parolin; Laureano, Maura Regina; Del'Aquilla, Marco Antonio; de Moura, Luciana Monteiro; Assuncao, Idaiane; Silva, Ivaldo; Schwartzman, Jose Salomao

    2011-01-01

    Neuroimaging methods represent a critical tool in efforts to join the study of the neurobiology of genes with the neurobiology of behaviour, and to understand the neurodevelopmental pathways that give rise to cognitive and behavioural impairments. This article reviews the clinical features and highlights studies with a focus on the relevant…

  12. Update on Clinical Features and Brain Abnormalities in Neurogenetics Syndromes

    ERIC Educational Resources Information Center

    Jackowski, Andrea Parolin; Laureano, Maura Regina; Del'Aquilla, Marco Antonio; de Moura, Luciana Monteiro; Assuncao, Idaiane; Silva, Ivaldo; Schwartzman, Jose Salomao

    2011-01-01

    Neuroimaging methods represent a critical tool in efforts to join the study of the neurobiology of genes with the neurobiology of behaviour, and to understand the neurodevelopmental pathways that give rise to cognitive and behavioural impairments. This article reviews the clinical features and highlights studies with a focus on the relevant…

  13. Repetitive Behaviors in Autism: Relationships with Associated Clinical Features

    ERIC Educational Resources Information Center

    Gabriels, Robin L.; Cuccaro, Michael L.; Hill, Dina E.; Ivers, Bonnie J.; Goldson, Edward

    2005-01-01

    Relationships between repetitive behaviors (RBs) and associated clinical features (i.e., cognitive and adaptive functioning levels, sleep problems, medication use, and other behavioral problems) were examined in two groups (High nonverbal IQ greater than or equal to 97 versus Low nonverbal IQ less than or equal to 56) of children with autism…

  14. Differences in clinical features of Crohn's disease and intestinal tuberculosis

    PubMed Central

    Huang, Xin; Liao, Wang-Di; Yu, Chen; Tu, Yi; Pan, Xiao-Lin; Chen, You-Xiang; Lv, Nong-Hua; Zhu, Xuan

    2015-01-01

    AIM: To investigate the clinical features of Crohn’s disease (CD) and intestinal tuberculosis (ITB) with a scoring system that we have developed. METHODS: A total of 25 CD and 40 ITB patients were prospectively enrolled from August 2011 to July 2012. Their characteristics and clinical features were recorded. Laboratory, endoscopic, histologic and radiographic features were determined. The features with a high specificity were selected to establish a scoring system. The features supporting CD scored +1, and those supporting ITB scored -1; each patient received a final total score. A receiver operating characteristic (ROC) curve was used to determine the best cut-off value for distinguishing CD from ITB. RESULTS: Based on a high specificity of differentiating between CD and ITB, 12 features, including longitudinal ulcers, nodular hyperplasia, cobblestone-like mucosa, intestinal diseases, intestinal fistula, the target sign, the comb sign, night sweats, the purified protein derivative test, the interferon-? release assay (T-SPOT.TB), ring ulcers and ulcer scars, were selected for the scoring system. The results showed that the average total score of the CD group was 3.12 ± 1.740, the average total score of the ITB group was -2.58 ± 0.984, the best cutoff value for the ROC curve was -0.5, and the diagnostic area under the curve was 0.997, which was statistically significant (P < 0.001). The patients whose total scores were higher than -0.5 were diagnosed with CD; otherwise, patients were diagnosed with ITB. Overall, the diagnostic accuracy rate and misdiagnosis rate of this scoring system were 97% and 3%, respectively. CONCLUSION: Some clinical features are valuable for CD and ITB diagnosis. The described scoring system is key to differentiating between CD and ITB. PMID:25834333

  15. Benign meningiomas (WHO Grade I) with atypical histological features: correlation of histopathological features with clinical outcomes.

    PubMed

    Marciscano, Ariel E; Stemmer-Rachamimov, Anat O; Niemierko, Andrzej; Larvie, Mykol; Curry, William T; Barker, Fred G; Martuza, Robert L; McGuone, Declan; Oh, Kevin S; Loeffler, Jay S; Shih, Helen A

    2016-01-01

    OBJECT World Health Organization (WHO) Grade I (benign) meningiomas with atypical features may behave more aggressively than similarly graded tumors without atypical features. Here, the prognostic significance of atypical features in benign meningiomas was determined. METHODS Data from patients diagnosed with WHO Grade I benign meningiomas per the 2007 WHO criteria and who underwent surgery between 2002 and 2012 were retrospectively reviewed. Patients were stratified by the absence or presence of 1 to 2 atypical features with review of the clinical and histological factors. RESULTS A total of 148 patients met the inclusion criteria (n = 77 with atypia; n = 71 without atypia). The median follow-up duration after pathological diagnosis was 37.5 months. Thirty patients had progression/recurrence (P/R) after initial treatment, and 22 (73%) of 30 patients with P/R had 1-2 atypical features. The presence of atypical features was significantly associated with P/R (p = 0.03) and independent of the MIB-1 labeling index. The 1-year and 5-year actuarial rates of P/R were 9.6% versus 1.4% and 30.8% versus 13.8% fortumors with and without atypical features, respectively. Higher Simpson grade resection (II-IV vs I) was associated with the increased risk of P/R (p < 0.001). Stratification of patients into low-risk (Simpson Grade I), intermediate-risk (Simpson Grade II-IV with no atypical features), and high-risk groups (Simpson Grade II-IV with atypical features) was significantly correlated with increased risk of P/R (p < 0.001). CONCLUSIONS Patients with benign meningiomas with atypical features and those undergoing Simpson Grade II-IV resection are at significantly increased risk of P/R. Patients with these features may benefit from the consideration of additional surgery and/or radiation therapy. PMID:26274991

  16. Demographic and clinical features of neuromyelitis optica: A review

    PubMed Central

    Asgari, N; Apiwattanakul, M; Palace, J; Paul, F; Leite, MI; Kleiter, I; Chitnis, T

    2015-01-01

    The comparative clinical and demographic features of neuromyelitis optica (NMO) are not well known. In this review we analyzed peer-reviewed publications for incidence and prevalence, clinical phenotypes, and demographic features of NMO. Population-based studies from Europe, South East and Southern Asia, the Caribbean, and Cuba suggest that the incidence and prevalence of NMO ranges from 0.05–0.4 and 0.52–4.4 per 100,000, respectively. Mean age at onset (32.6–45.7) and median time to first relapse (8–12 months) was similar. Most studies reported an excess of disease in women and a relapsing course, particularly in anti-aquaporin 4 antibody (anti AQP4-IgG)-positive patients. Ethnicity may have a bearing on disease phenotype and clinical outcome. Despite limitations inherent to the review process, themes noted in clinical and demographic features of NMO among different populations promote a more global understanding of NMO and strategies to address it. PMID:25921037

  17. Clinical, laboratory and electrophysiological features of Morvan's fibrillary chorea.

    PubMed

    Lee, Will; Day, Timothy J; Williams, David R

    2013-09-01

    Morvan's Fibrillary Chorea (MFC) is a rare autoimmune disorder causally associated with auto-antibodies directed at the voltage-gated potassium channel (VGKC-Abs). It classically presents with sleep disturbances, neuromyotonia and dysautonomia. We aimed to systematically characterise the features of MFC by describing a patient and reviewing published literature. Case notes of 27 patients with MFC (one from our clinic and 26 from the literature) were reviewed and clinical data were extracted and analysed. We found that MFC mainly affects men (96%) and runs a subacute course over months. Neoplasia (56%), VGKC-Abs positivity (79%) and autoimmunity (41%) are frequent associations. Myokymia, insomnia and hyperhidrosis were almost universally described. Other autonomic features were present in 63% with the most common being cardiovascular and bowel disturbances. Clinical, radiological or electroencephalographical features of limbic encephalitis were present in 19% of patients. Outcome was fair with an overall recovery rate of 78%. All patients with malignancies underwent surgery. Immunotherapies including corticosteroids, intravenous immunoglobulins and plasma exchange were instituted in 22 patients and 19 (86%) responded. Of all symptomatic treatments tried, carbamazepine, phenytoin, sodium valproate, levetiracetam and niaprazine were found to be effective. The broad clinical spectrum of VGKC-Abs diseases can make early recognition of MFC difficult. Myokymia, insomnia and hyperhidrosis are invariably present. There may be abnormalities on cerebrospinal fluid testing and VGKC-Abs can occasionally be absent. Early initiation of immunotherapies and malignancy screening are important to prevent adverse outcomes in a condition that generally responds favourably to treatment. PMID:23712055

  18. Enteroviral encephalitis in children: clinical features, pathophysiology, and treatment advances

    PubMed Central

    Jain, Shikha; Patel, Bhupeswari; Bhatt, Girish Chandra

    2014-01-01

    Enteroviruses (EVs) have emerged as one of the important etiological agents as a causative organism for encephalitis, especially in children and adults. After the first report of EV encephalitis cases in 1950s, there have been increasing reports of regular outbreaks of EV encephalitis worldwide. Enteroviruses are RNA viruses of the family Picornaviridae that consists of more than 100 serotypes, which are characterized by a single positive-strand genomic RNA. The clinical features are pleomorphic and can be accompanied by mucocutaneous manifestations or isolated encephalitis only. The incidence of encephalitis in EV infection is reported to be about 3% and is associated with high mortality and morbidity. A number of newer therapeutic agents have been used in EV encephalitis with variable results. This review will focus on clinical features, pathophysiology, and newer treatment modality in EV encephalitis. PMID:25175874

  19. Clinical features and management of hereditary spastic paraplegia.

    PubMed

    Faber, Ingrid; Servelhere, Katiane R; Martinez, Alberto R M; D'Abreu, Anelyssa; Lopes-Cendes, Iscia; França-Jr, Marcondes C

    2014-03-01

    Hereditary spastic paraplegia (HSP) is a group of genetically-determined disorders characterized by progressive spasticity and weakness of lower limbs. An apparently sporadic case of adult-onset spastic paraplegia is a frequent clinical problem and a significant proportion of cases are likely to be of genetic origin. HSP is clinically divided into pure and complicated forms. The later present with a wide range of additional neurological and systemic features. To date, there are up to 60 genetic subtypes described. All modes of monogenic inheritance have been described: autosomal dominant, autosomal recessive, X-linked and mitochondrial traits. Recent advances point to abnormal axonal transport as a key mechanism leading to the degeneration of the long motor neuron axons in the central nervous system in HSP. In this review we aim to address recent advances in the field, placing emphasis on key diagnostic features that will help practicing neurologists to identify and manage these conditions. PMID:24676440

  20. Clinical features of olfactory disorders in patients seeking medical consultation

    PubMed Central

    Chen, Guowei; Wei, Yongxiang; Miao, Xutao; Li, Kunyan; Ren, Yuanyuan; Liu, Jia

    2013-01-01

    Background Olfactory disorders are common complaints in ENT clinics. We investigated causes and relevant features of olfactory disorders and the need for gustatory testing in patients with olfactory dysfunction. Material/Methods A total of 140 patients seeking medical consultations were enrolled. All patients were asked about their olfactory disorders in a structured interview of medical history and underwent thorough otolaryngologic examinations and imaging of the head. Results Causes of olfactory disorders were classified as: upper respiratory tract infection (URTI), sinonasal diseases (NSD), head trauma, idiopathic, endoscopic sinus surgery, congenital anosmia, and other causes. Each of the various causes of olfactory dysfunction had its own distinct clinical features. Nineteen of 54 patients whose gustation was assessed had gustatory disorders. Conclusions The leading causes of olfactory dysfunction were URTI, NSD, head trauma, and idiopathic causes. Gustatory disorders were fairly common in patients with olfactory dysfunction. High priority should be given to complaints of olfactory disorders. PMID:23748259

  1. The clinical features and management of pituitary apoplexy.

    PubMed Central

    Lloyd, M. H.; Belchetz, P. E.

    1977-01-01

    The clinical features and management of three patients presenting with pituitary apoplexy are described. They illustrate the difficulty of differentiating pituitary apoplexy from other acute neurologic conditions. One of the patients is the first reported case of pituitary apoplexy occurring in a histologically proved craniopharyngioma. Two of the cases reported were treated conservatively and recovered without seriouplexy as a neurosurgical emergency. The relationship between radiotherapy and pituitary apoplexy is discussed. PMID:876925

  2. Morphological spectrum and clinical features of myopathies with tubular aggregates.

    PubMed

    Funk, Fabian; Ceuterick-de Groote, Chantal; Martin, Jean-Jacques; Meinhardt, Axel; Taratuto, Ana L; De Bleecker, Jan; Van Coster, Rudy; De Paepe, Boel; Schara, Ulrike; Vorgerd, Matthias; Häusler, Martin; Koppi, Stefan; Maschke, Matthias; De Jonghe, Peter; Van Maldergem, Lionel; Noel, Stéphane; Zimmermann, Christoph W; Wirth, Stefan; Isenmann, Stefan; Stadler, Rudolf; Schröder, J Michael; Schulz, Jörg B; Weis, Joachim; Claeys, Kristl G

    2013-08-01

    Tubular aggregates (TAs) are aggregates of densely packed tubules in human skeletal muscle fibers with particular histochemical and ultrastructural features that most probably arise from the sarcoplasmic reticulum. Some studies have shown an additional mitochondrial origin of TAs. We studied the histopathological spectrum and clinical features in a large cohort of patients with TAs in their muscle biopsy (106 biopsies), derived from our muscle biopsy archive (15,412 biopsies in total). In particular, we examined light microscopic, enzyme histochemical, immunohistochemical and ultrastructural features in the muscle biopsies, as well as the patients' clinical data. We found TAs in 0.5% of all muscle biopsies. Based on the size of TAs, we identified two sub-groups: (1) myopathies with large TAs (29 biopsies) in type 2 fibers and sometimes also in type 1 fibers, absence of any other associated disorder, and a familial history in half of the cases, and (2) myopathies with small TAs (77 biopsies), exclusively in type 2 fibers, presence of another associated disease in the majority of patients and mostly no familial history. In the sub-group with large TAs, we observed a high variability of ultrastructural changes. The most frequent clinical symptom in both groups was limb muscle weakness. No significant differences in clinical presentation, age at onset or disease duration at the time of biopsy were found between the two groups. In conclusion, myopathies with TAs can be sub-divided into a group with large TAs, probably corresponding to the so-called primary TA myopathies, and into a group with small TAs as a feature of another underlying condition. PMID:23479431

  3. Clinical features of rheumatoid arthritis-associated interstitial lung disease.

    PubMed

    Wang, Ting; Zheng, Xing-Ju; Liang, Bin-Miao; Liang, Zong-An

    2015-01-01

    Interstitial lung disease (ILD) is the most common extra-articular manifestations of rheumatoid arthritis (RA) in the lung. This study aimed to identify clinical features of RA-associated ILD (RA-ILD). Patients with RA were retrospectively enrolled and sub-classified as RA-ILD or RA without ILD based on high-resolution computed tomography imaging. Pulmonary function testing parameters and levels of RA-related biomarkers, tumour markers, and acute-phase proteins were compared between the two groups. Logistic regression model was used to assess the strength of association between RA-ILD and clinical features of interest. Receiver operating characteristic analysis was performed to assess potential predictive value of clinical features for detecting RA-ILD. Comparison analysis indicated that the percentage of predicted value of total lung capacity, inspiratory capacity, and diffusion capacity of the lung for carbon monoxide (DLCO) were reduced in patients with RA-ILD. Tumour markers CA15-3 and CA125 were increased in patients with RA-ILD. Logistic regression analysis revealed that decreased DLCO was related to the increased likelihood of RA-ILD (OR = 0.94, 95%CI = [0.91, 0.98]). The cut-off point at 52.95 percent of predicted value could sensitively discriminate RA patients with or without ILD. Our study suggested that DLCO value could be a useful tool for detecting ILD in patients with RA. PMID:26443305

  4. Clinical features of rheumatoid arthritis-associated interstitial lung disease

    PubMed Central

    Wang, Ting; Zheng, Xing-Ju; Liang, Bin-Miao; Liang, Zong-An

    2015-01-01

    Interstitial lung disease (ILD) is the most common extra-articular manifestations of rheumatoid arthritis (RA) in the lung. This study aimed to identify clinical features of RA-associated ILD (RA-ILD). Patients with RA were retrospectively enrolled and sub-classified as RA-ILD or RA without ILD based on high-resolution computed tomography imaging. Pulmonary function testing parameters and levels of RA-related biomarkers, tumour markers, and acute-phase proteins were compared between the two groups. Logistic regression model was used to assess the strength of association between RA-ILD and clinical features of interest. Receiver operating characteristic analysis was performed to assess potential predictive value of clinical features for detecting RA-ILD. Comparison analysis indicated that the percentage of predicted value of total lung capacity, inspiratory capacity, and diffusion capacity of the lung for carbon monoxide (DLCO) were reduced in patients with RA-ILD. Tumour markers CA15–3 and CA125 were increased in patients with RA-ILD. Logistic regression analysis revealed that decreased DLCO was related to the increased likelihood of RA-ILD (OR?=?0.94, 95%CI?=?[0.91, 0.98]). The cut-off point at 52.95 percent of predicted value could sensitively discriminate RA patients with or without ILD. Our study suggested that DLCO value could be a useful tool for detecting ILD in patients with RA. PMID:26443305

  5. Clinical and Echographic Features of Retinochoroidal and Optic Nerve Colobomas

    PubMed Central

    Venincasa, Vincent D.; Modi, Yasha S.; Aziz, Hassan A.; Ayres, Bernadette; Zehetner, Claus; Shi, Wei; Murray, Timothy G.; Flynn, Harry W.; Berrocal, Audina M.

    2015-01-01

    Purpose. We reported the clinical and echographic features of colobomas, prevalence of retinal detachment, and associated visual acuity in these patients Methods. The study is a nonrandomized consecutive case series of 140 colobomatous eyes in 98 patients (age range, 0–83 years). Coloboma depth, width, volume, and relative coloboma excavation (coloboma depth/axial length) were measured using standardized echographic images. The presence of structural and other ocular abnormalities was noted. The clinical and echographic findings present were correlated with visual acuity of the patient. In addition, these features were correlated with the presence or absence of retinal detachment. Results. Increased relative coloboma excavation was significantly associated with an increased risk of retinal detachment. A relative coloboma excavation (ratio of coloboma depth to axial length) greater than 0.15 was associated with an increased risk of retinal detachment (52%), compared to those with a relative coloboma excavation less than 0.15 (23%, P = 0.014). The presence of any structural abnormality and the presence of a retrobulbar cyst were associated with increased risk of retinal detachment and severe visual impairment (worse than 20/200). Increased coloboma depth, width, volume, and relative coloboma excavation were not associated with increased risk of severe visual impairment. Conclusions. Clinical and echographic features of colobomas may be used in predicting the risk of retinal detachment. Measuring relative coloboma excavation upon presentation may alter follow-up and assist in the diagnosis of retinal detachment. PMID:26047048

  6. [Microbiological and clinical features of nine cases with nocardial infections].

    PubMed

    Maki, Yukiko; Uchida, Yujiro; Monji, Nobuhisa; Mochimaru, Tomomi; Morokuma, Yuiko; Karashima, Takato; Kiyosuke, Makiko; Fujise, Masako; Eto, Fujiko; Miyake, Noriko; Shimono, Nobuyuki; Kayamori, Yuzo; Kang, Dongchon

    2011-03-01

    Following recent advance in medical technology, the increase of immunocompromised patients results in an increase of opportunistic infections such as nocardiosis. However, little is known about relationships between clinical features of nocardial infections and each Nocardia species, especially newly identified ones. Therefore, we identified clinical isolates of Nocardia species by genetic methods and analyzed clinical features of nocardiosis. Nine clinical isolates were obtained in Kyushu University Hospital from 2005 to 2008. Six different Nocardia species were identified by 16Sr RNA: Nocardiafarcinia (n=2), Nocardia brasiliensis (n=2), Nocardia cyriacigeorgica (n=2), Nocardia transvalensis (n=1), Nocardia araoensis (n=1) and Nocardia testacea (n=1). The underlying diseases of 9 patients were pulmonary diseases(n=5), malignant diseases(n=3), collagen diseases(n=1) or primary immunodeficiency diseases (n=l). According to antimicrobial susceptibility testing, none of them was resistant to minocycline or linezolid. Among seven isolates from respiratory specimens, one was resistant to imipenem, sulfamethoxazole/trimethoprim and amikacin, two were to ciprofloxacin. Three species identified recently (N cyriacigeorgica, N. araoensis and N. testacea) were involved in this study and most of them were considered as infectious pathogens to human. These data suggested the identification of Nocardia to the species level and susceptibility testing were important for diagnosis as infectious diseases and treatments. PMID:21560401

  7. Clinical features of avian vacuolar myelinopathy in American coots

    USGS Publications Warehouse

    Larsen, R.S.; Nutter, F.B.; Augspurger, T.; Rocke, T.E.; Tomlinson, L.; Thomas, N.J.; Stoskopf, M.K.

    2002-01-01

    Objectivea??To characterize clinical features of avian vacuolar myelinopathy (AVM) in American coots. Designa??Case-control study. Animalsa??26 AVM-affected American coots and 12 unaffected coots. Proceduresa??Complete physical, neurologic, hematologic, and plasma biochemical evaluations were performed. Affected coots received supportive care. All coots died or were euthanatized, and AVM status was confirmed via histopathologic findings. Resultsa??3 severely affected coots were euthanatized immediately after examination. Seventeen affected coots were found dead within 7 days of admission, but 5 affected coots survived > 21 days and had signs of clinical recovery. Abnormal physical examination findings appeared to be related to general debilitation. Ataxia (88%), decreased withdrawal reflexes (88%), proprioceptive deficits (81%), decreased vent responses (69%), beak or tongue weakness (42%), and head tremors (31%), as well as absent pupillary light responses (46%), anisocoria (15%), apparent blindness (4%), nystagmus (4%), and strabismus (4%) were detected. Few gross abnormalities were detected at necropsy, but histologically, all AVM-affected coots had severe vacuolation of white matter of the brain. None of the control coots had vacuolation. Conclusions and Clinical Relevancea??Although there was considerable variability in form and severity of clinical neurologic abnormalities, clinical signs common in AVM-affected birds were identified. Clinical recovery of some AVM-affected coots can occur when supportive care is administered. Until the etiology is identified, caution should be exercised when rehabilitating and releasing coots thought to be affected by AVM.

  8. Clinicopathologic Features and Clinical Outcomes of Esophageal Gastrointestinal Stromal Tumor

    PubMed Central

    Feng, Fan; Tian, Yangzi; Liu, Zhen; Xu, Guanghui; Liu, Shushang; Guo, Man; Lian, Xiao; Fan, Daiming; Zhang, Hongwei

    2016-01-01

    Abstract Clinicopathologic features and clinical outcomes of gastrointestinal stromal tumors (GISTs) in esophagus are limited, because of the relatively rare incidence of esophageal GISTs. Therefore, the aim of the current study was to investigate the clinicopathologic features and clinical outcomes of esophageal GISTs, and to investigate the potential factors that may predict prognosis. Esophageal GIST cases were obtained from our center and from case reports and clinical studies extracted from MEDLINE. Clinicopathologic features and survivals were analyzed and compared with gastric GISTs from our center. The most common location was lower esophagus (86.84%), followed by middle and upper esophagus (11.40% and 1.76%). The majority of esophageal GISTs were classified as high-risk category (70.83%). Mitotic index was correlated with histologic type, mutational status, and tumor size. The 5-year disease-free survival and disease-specific survival were 65.1% and 65.9%, respectively. Tumor size, mitotic index, and National Institutes of Health risk classification were associated with prognosis of esophageal GISTs. Only tumor size, however, was the independent risk factor for the prognosis of esophageal GISTs. In comparison to gastric GISTs, the distribution of tumor size, histologic type, and National Institutes of Health risk classification were significantly different between esophageal GISTs and gastric GISTs. The disease-free survival and disease-specific survival of esophageal GISTs were significantly lower than that of gastric GISTs. The most common location for esophageal GISTs was lower esophagus, and most of the esophageal GISTs are high-risk category. Tumor size was the independent risk factor for the prognosis of esophageal GISTs. Esophageal GISTs differ significantly from gastric GISTs in respect to clinicopathologic features. The prognosis of esophageal GISTs was worse than that of gastric GISTs. PMID:26765432

  9. AB124. Mucolipidosis type II: clinical features and laboratories

    PubMed Central

    Can, Ngoc Thi Bich; Vu, Dung Chi; Bui, Thao Phuong; Nguyen, Khanh Ngoc; Hwu, Wuh-Liang

    2015-01-01

    Background I-cell disease (Mucolipidosis II) is a rare lysosomal storage disorder caused by the deficiency of N-acetylglucosamine-l-phosphotransferase, an enzyme that transfers phosphate groups onto oligosaccharide units of lysosomal enzyme precursors. Due to the absence of transferase activity, the common phosphomannose recognition marker of acid hydrolases is not generated, and the enzymes are not targeted to the lysosomes I. As a consequence the enzymes are secreted into the extracellular space, and high activities can be found in the serum, cerebrospinal fluid and urine of the patients, whereas inside the cells (fibroblasts) the enzyme levels are considerably reduced. Mucolipidosis is also known as I-cell disease because of the coarse granular cytoplasmic inclusions seen in cultured skin fibroblasts which are large lysosomes containing heterogeneous material. Objective To describe clinical features and enzyme activity of patients with mucolipidosis type II. Methods Clinical features, laboratory and plasma lysosom enzyme activity by four MU-Fluorometric assay was study. Results and conclusions Sixteen cases (seven girls and nine boys) onset at 5.93±4.28 years of age the onset age of 2.3±3.1 years (median 1.25) with the feature of joint stiffness and bone deformation. 100% cases admitted with the feature of joint stiffness, chest deformation and kyphoscoliosis, 93.3% coarse facial features. No patients had hepatosplenomegaly on ultrasound, 5/15 patients had heart valves disease. Enzyme assay showed α-Hexosaminidase of 1,885.98±338.7 nmoL/mg plasma/17 h, α-Iduronate sulfatase of 4,534.78±1,062.97 nmoL/mg plasma/4 h. Mucolipidosis has seriously affected the life of the patients.

  10. Severe falciparum malaria in Gabonese children: clinical and laboratory features

    PubMed Central

    Dzeing-Ella, Arnaud; Nze Obiang, Pascal C; Tchoua, Rose; Planche, Timothy; Mboza, Béatrice; Mbounja, Monique; Muller-Roemer, Ulrich; Jarvis, Joseph; Kendjo, Eric; Ngou-Milama, Edouard; Kremsner, Peter G; Krishna, Sanjeev; Kombila, Maryvonne

    2005-01-01

    Background Malaria continues to claim one to two million lives a year, mainly those of children in sub-Saharan Africa. Reduction in mortality depends, in part, on improving the quality of hospital care, the training of healthcare workers and improvements in public health. This study examined the prognostic indicators of severe falciparum malaria in Gabonese children. Methods An observational study examining the clinical presentations and laboratory features of severe malaria was conducted at the Centre Hospitalier de Libreville, Gabon over two years. Febrile children aged from 0 to 10 years with Plasmodium falciparum infection and one or more features of severe malaria were enrolled. Results Most children presenting with severe falciparum malaria were less than 5 years (92.3% of 583 cases). Anaemia was the most frequent feature of severe malaria (67.8% of cases), followed by respiratory distress (31%), cerebral malaria (24%) hyperlactataemia (16%) and then hypoglycaemia (10%). Anaemia was more common in children under 18 months old, while cerebral malaria usually occurred in those over 18 months. The overall case fatality rate was 9%. The prognostic indicators with the highest case fatality rates were coma/seizures, hyperlactataemia and hypoglycaemia, and the highest case fatality rate was in children with all three of these features. Conclusions Prompt and appropriate, classification and treatment of malaria helps identify the most severely ill children and aids early and appropriate management of the severely ill child. PMID:15638948

  11. Cardiovascular Magnetic Resonance Myocardial Feature Tracking: Concepts and Clinical Applications.

    PubMed

    Schuster, Andreas; Hor, Kan N; Kowallick, Johannes T; Beerbaum, Philipp; Kutty, Shelby

    2016-04-01

    Heart failure-induced cardiovascular morbidity and mortality constitute a major health problem worldwide and result from diverse pathogeneses, including coronary artery disease, nonischemic cardiomyopathies, and arrhythmias. Assessment of cardiovascular performance is important for early diagnosis and accurate management of patients at risk of heart failure. During the past decade, cardiovascular magnetic resonance myocardial feature tracking has emerged as a useful tool for the quantitative evaluation of cardiovascular function. The method allows quantification of biatrial and biventricular mechanics from measures of deformation: strain, torsion, and dyssynchrony. The purpose of this article is to review the basic principles, clinical applications, accuracy, and reproducibility of cardiovascular magnetic resonance myocardial feature tracking, highlighting the prognostic implications. It will also provide an outlook on how this field might evolve in the future. PMID:27009468

  12. Clinical Features of Miller-Fisher Syndrome in Pregnancy

    PubMed Central

    Ono, Masanori; Sato, Hideki; Shirahashi, Mayu; Tomioka, Noriko; Maeda, Julia; Watanabe, Keiko; Amagata, Tomoko; Ikeda, Toshiyuki; Yakubo, Kazumi; Fukuiya, Tatsuro

    2015-01-01

    Miller-Fisher syndrome (MFS) is recognized as a variant of Guillain-Barré syndrome (GBS). MFS is a rare disorder that is characterized by the acute onset of ophthalmoplegia, ataxia, and areflexia/hyporeflexia. MFS has a higher incidence in Asia, where the incidence is estimated to be 18%–26% of GBS compared with 3%–5% in the West. The differential diagnosis of MFS includes Wernicke's encephalopathy (WE) which is characterized by a clinical triad (nystagmus and ophthalmoplegia, mental status changes, and ataxia), myasthenia gravis, and brainstem stroke. The association between MFS and pregnancy has not been reported previously. Here, we describe the clinical features of a pregnant woman in early pregnancy with MFS. This case highlights the fact that it is necessary to establish an accurate diagnosis based on the details from the patient's history on appropriate complementary testing in a pregnant patient with MFS. PMID:26697248

  13. Clinical and Histological Features of Azithromycin-Induced Liver Injury

    PubMed Central

    Martinez, Melissa A.; Vuppalanchi, Raj; Fontana, Robert J.; Stolz, Andrew; Kleiner, David E.; Hayashi, Paul H.; Gu, Jiezhun; Hoofnagle, Jay H.; Chalasani, Naga

    2014-01-01

    Background & Aims Rare cases of azithromycin-induced hepatotoxicity have been reported, with variable clinical and histological features. We characterized clinical features and outcomes of azithromycin-induced liver injury. Methods We identified patients with azithromycin-induced liver injury from the Drug-Induced Liver Injury Network Prospective Study who had causality scores of definite, highly likely, or probable. Demographic, clinical, and laboratory data and 6-month outcomes were examined. Results Eighteen patients (72% female; mean age, 37 years) had causality scores of definite (n=1), highly likely (n=9), or probable (n=8). Common presenting symptoms were jaundice, abdominal pain, nausea, and/or pruritus. For 16 patients, abnormal results from liver tests were first detected 14 days after azithromycin cessation (range, 9–20 days). The median duration of azithromycin treatment was 4 days (range, 2–7 days). The pattern of injury was hepatocellular in 10 patients, cholestatic in 6 patients, and mixed in 2 patients. The mean peak level of alanine aminotransferase was 2127 IU/L, of alkaline phosphatase was 481 IU/L, and of total bilirubin was 9.2 mg/dL. Liver histology showed ductopenia and veno-occlusive changes in a few cases. Two individuals had severe hypersensitivity cutaneous reactions. After 6 months, 8 patients had recovered, 4 had chronic injury, 1 died, and 1 underwent liver transplantation (outcomes were unavailable for 4 patients). Two of the patients with fatal or liver transplantation outcomes had preexisting chronic liver disease. Conclusions Azithromycin-induced liver injury occurs within 1–3 weeks after azithromycin initiation and is predominantly hepatocellular in nature. Although most patients recover fully, severe cutaneous reactions, chronic injury, and serious complications leading to death or liver transplantation can occur (ClinicalTrials.gov identifier, NCT00345930). PMID:25111234

  14. Clinical features of facioscapulohumeral muscular dystrophy 2(CME)

    PubMed Central

    de Greef, J.C.; Lemmers, R.J.L.F.; Camaño, P.; Day, J.W.; Sacconi, S.; Dunand, M.; van Engelen, B.G.M.; Kiuru-Enari, S.; Padberg, G.W.; Rosa, A.L.; Desnuelle, C.; Spuler, S.; Tarnopolsky, M.; Venance, S.L.; Frants, R.R.; van der Maarel, S.M.; Tawil, R.

    2010-01-01

    Objective: In some 5% of patients with facioscapulohumeral muscular dystrophy (FSHD), no D4Z4 repeat contraction on chromosome 4q35 is observed. Such patients, termed patients with FSHD2, show loss of DNA methylation and heterochromatin markers at the D4Z4 repeat that are similar to patients with D4Z4 contractions (FSHD1). This commonality suggests that a change in D4Z4 chromatin structure unifies FSHD1 and FSHD2. The aim of our study was to critically evaluate the clinical features in patients with FSHD2 in order to establish whether these patients are phenotypically identical to FSHD1 and to establish the effects of the (epi-) genotype on the phenotype. Methods: This cross-sectional study studied 33 patients with FSHD2 from 27 families, the largest cohort described to date. All patients were clinically assessed using a standardized clinical evaluation form. Genotype analysis was performed by pulsed field gel electrophoresis and PCR; D4Z4 methylation was studied by methylation-sensitive Southern blot analysis. Results: FSHD2 is identical to FSHD1 in its clinical presentation. Notable differences include a higher incidence (67%) of sporadic cases and the absence of gender differences in disease severity in FSHD2. Overall, average disease severity in FSHD2 was similar to that reported in FSHD1 and was not influenced by D4Z4 repeat size. In FSHD2, a small effect of the degree of hypomethylation on disease severity was observed. Conclusions: Clinically, patients with FSHD2 are indistinguishable from patients with FSHD1. The present data suggest that FSHD1 and FSHD2 are the result of the same pathophysiologic process. GLOSSARY CSS = clinical severity score; FSHD = facioscapulohumeral muscular dystrophy; PBL = peripheral blood lymphocyte; SSLP = simple sequence length polymorphism. PMID:20975055

  15. Detection of betalactamase producing bacterial genes and their clinical features.

    PubMed

    Hashim, R B; Husin, S; Rahman, M M

    2011-01-01

    The present study was aimed to identify the gene of drug resistance betalactamase producing bacteria and clinical features of the infected patients at Hospital University Kebangsaan Malaysia. Blood samples from the patients were collected, processed and betalactamase producing drug resistance bacteria were identified by antibiotic sensitivity testing. Genes of the drug resistance bacteria were detected and characterized by polymerase chain reaction. A total of 34 isolates of drug resistance Betalactamase producing E. coli and Klebsiella spp. were isolated from 2,502 patients. Most common drug resistance gene TEM was found in 50% of the isolates. 11% was found positive for both TEM and SHV. Next 11% of the isolates expressed only SHV genes. Clinical features of the patients were recorded from where the bacteria isolated. Regarding community affiliations 70.5% of the infected patients were Malay 17.6% were Indian and 11.7% were Chinese. Majority of the patients has an underlying pre-morbid condition as reflected by their diagnosis. Better infection control and hygiene in hospitals, plus controlled and prudent use of antibiotics, is required to minimize the impact of drug resistance betalactamase producing bacteria and the spread of infections. PMID:21913496

  16. Histomorphological Features of Intestinal Atresia and its Clinical Correlation

    PubMed Central

    Singh, Meeta; Khurana, Nita; Sathish, Agarwal

    2015-01-01

    Introduction Intestinal atresia accounts for approximately one third of all cases of neonatal intestinal obstruction. There is controversy regarding pathogenesis of congenital atresia and stenosis of small bowel. Studies regarding clinical manifestations and specific histopathological features of neonatal intestinal atresia are scarce in Indian literature. Aim To understand the histomorphological features and thus suggest pathophysiology of cases with Intestinal Atresia. Materials and Methods Out of 147 cases, of intestinal obstruction in newborn studied over a period of 5 years, 39 cases of intestinal atresia were found. Their histomorphological details with clinical manifestations were studied. Results Type II was the commonest type of atresia. Associated anomalies noted were gastroschisis, volvulus, anal stenosis, microcolon, annular pancreas, meconium cyst and duplication cyst. Histological changes observed were ulceration, flattening, abnormal villous configuration, luminal obliteration, narrowing, haemangiomatous proliferation of blood vessels, fibrosis, haemorrhage, calcification, and mesenchymal condensation around the blood vessels. Gangrene and perforation has also noted in some cases. Conclusion An intrauterine intestinal ischemia due to vascular pathology followed by resorption of the bowel is the possible explanation for the development of intestinal atresia. PMID:26674207

  17. Hemorrhage risk and clinical features of multiple intracranial arteriovenous malformations.

    PubMed

    Boone, Christine E; Caplan, Justin M; Yang, Wuyang; Ye, Xiaobu; Colby, Geoffrey P; Coon, Alexander L; Tamargo, Rafael J; Huang, Judy

    2016-01-01

    The aim of this report is to examine clinical characteristics, treatment strategies, and annual hemorrhage incidence rate for patients with multiple arteriovenous malformations (MAVM). The PubMed and EMBASE databases and the arteriovenous malformations (AVM) database at The Johns Hopkins Hospital were searched to identify patients with MAVM. Data related to demographics, clinical features, management, and treatment outcomes were analyzed with descriptive statistics. Thirty-eight patients met the inclusion criteria. The annual hemorrhage incidence rate was 6.7%. Surgical intervention remained the most common single-modality treatment from 1949-2011. Between 1990 and 2011, multiple-modality treatment strategies (36% of cases) were employed more frequently. The most common presenting features were neurological deficit (74%) and hemorrhage (63%). In patients undergoing staged treatment of MAVM, hemorrhage of an untreated nidus (n=5), visualization of a new nidus (n=9), and disappearance of an untreated nidus (n=2) were observed. Limitations of this study include small sample size and reporting bias. The annual hemorrhage incidence rate for MAVM patients was approximately two- to three-fold greater than the reported annual hemorrhage rates for solitary AVM. Combining different treatment modalities has become the most common management strategy. The potential instability of remaining nidi with staged or incomplete treatment necessitates close follow-up in these cases. PMID:26461910

  18. The clinical features of the piriformis syndrome: a systematic review

    PubMed Central

    Song, Fujian; Riera, Ricardo; Sambandan, Sidha

    2010-01-01

    Piriformis syndrome, sciatica caused by compression of the sciatic nerve by the piriformis muscle, has been described for over 70 years; yet, it remains controversial. The literature consists mainly of case series and narrative reviews. The objectives of the study were: first, to make the best use of existing evidence to estimate the frequencies of clinical features in patients reported to have PS; second, to identify future research questions. A systematic review was conducted of any study type that reported extractable data relevant to diagnosis. The search included all studies up to 1 March 2008 in four databases: AMED, CINAHL, Embase and Medline. Screening, data extraction and analysis were all performed independently by two reviewers. A total of 55 studies were included: 51 individual and 3 aggregated data studies, and 1 combined study. The most common features found were: buttock pain, external tenderness over the greater sciatic notch, aggravation of the pain through sitting and augmentation of the pain with manoeuvres that increase piriformis muscle tension. Future research could start with comparing the frequencies of these features in sciatica patients with and without disc herniation or spinal stenosis. PMID:20596735

  19. Clinical features and differential diagnosis of flail arm syndrome.

    PubMed

    Hübers, Annemarie; Hildebrandt, Viviane; Petri, Susanne; Kollewe, Katja; Hermann, Andreas; Storch, Alexander; Hanisch, Frank; Zierz, Stephan; Rosenbohm, Angela; Ludolph, Albert C; Dorst, Johannes

    2016-02-01

    Flail arm syndrome (FAS) is a variant of motor neuron disease which is characterized by progressive, predominantly proximal weakness and atrophy of the upper limbs (UL). Because of its heterogeneous presentation and its relatively slow progression, differential diagnosis may be difficult particularly in the early stages of the disease. The aim of this study was to investigate typical clinical features of FAS with special regard to initial symptoms and differences to classical Charcot type amyotrophic lateral sclerosis (ALS). We retrospectively evaluated the clinical features of 42 FAS patients who were seen in the outpatient clinics of 4 German centers between 2000 and 2010 and compared them to 146 sex-matched control patients with classical spinal-onset ALS. FAS patients were younger (54.7 ± 9.3 versus 59.4 ± 12.2 years), male patients were predominantly affected (3.8:1 versus 1.9:1), and FAS patients showed a prolonged survival (53 versus 33 months) compared to classical ALS patients. The share of patients with initial misdiagnoses was 54.8 % and led to ineffective therapy with immunoglobulins in 26 %. Initial symptoms were most frequently present either in distal muscles only or in both proximal and distal muscle groups combined (76 %) and showed an asymmetric distribution pattern in the majority of cases (76 %). Although all patients developed symmetric and predominantly proximal UL weakness and atrophy during the course of their disease, we found that most patients initially showed asymmetric and predominantly distal distribution of symptoms. This may contribute to difficulties in differential diagnosis and to ineffective treatment regimes. PMID:26705123

  20. Novel clinical features of recurrent human respiratory syncytial virus infections

    PubMed Central

    Yui, Ikuko; Fujino, Motoko; Sawada, Akihito; Nakayama, Tetsuo

    2014-01-01

    Children and elderly individuals are often infected easily and repeatedly with human respiratory syncytial virus (HRSV); however, the features of recurrent infection in the same individual are defined poorly. To clarify the clinical significance of repeated HRSV infections in relation to subgroup epidemiology, this study performed prospective and longitudinal analyses in children with lower respiratory tract infections over 20 consecutive epidemics between 1985 and 2005 at a pediatric outpatient clinic in Kawasaki, Japan. HRSV infections were confirmed by 2 types of reverse-transcription PCR. Samples obtained from patients with repeated infections were subjected to sequence analysis and cloning analysis. A total of 1,312 lower respiratory tract infections observed in 1,010 patients were diagnosed as HRSV infections. Repeated HRSV infections occurred in 208 of the 1,010 patients. Analysis of the patients with repeated infections revealed that children were often infected multiple times even within a single short epidemic. Some patients were re-infected with strains having the same or virtually identical N gene sequences. In patients infected more than 4 times, cloning analysis revealed more frequent dual infections with both subgroups (23.8%). The HRSV-A subgroup caused subsequent homologous infections more frequently than did HRSV-B; furthermore, HRSV-A infections provided no protection from a second homologous infection. In contrast, HRSV-B infections offered significant protection against a second homologous infection. Statistical analysis revealed alleviation of symptoms with a reduced rate of dyspnoeic attacks only in the group re-infected with homologous HRSV-A strains. Thus, this study elucidates new clinical features of recurrent HRSV infection. J. Med. Virol 86: 1629–1638, 2014. PMID:24166209

  1. Cardioembolic Stroke: Clinical Features, Specific Cardiac Disorders and Prognosis

    PubMed Central

    Arboix, Adrià; Alió, Josefina

    2010-01-01

    This article provides the reader with an overview and up-date of clinical features, specific cardiac disorders and prognosis of cardioembolic stroke. Cardioembolic stroke accounts for 14-30% of ischemic strokes and, in general, is a severe condition; patients with cardioembolic infarction are prone to early and long-term stroke recurrence, although recurrences may be preventable by appropriate treatment during the acute phase and strict control at follow-up. Certain clinical features are suggestive of cardioembolic infarction, including sudden onset to maximal deficit, decreased level of consciousness at onset, Wernicke’s aphasia or global aphasia without hemiparesis, a Valsalva manoeuvre at the time of stroke onset, and co-occurrence of cerebral and systemic emboli. Lacunar clinical presentations, a lacunar infarct and especially multiple lacunar infarcts, make cardioembolic origin unlikely. The more common high risk cardioembolic conditions are atrial fibrillation, recent myocardial infarction, mechanical prosthetic valve, dilated myocardiopathy, and mitral rheumatic stenosis. Transthoracic and transesophageal echocardiogram can disclose structural heart diseases. Paroxysmal atrial dysrhyhtmia can be detected by Holter monitoring. In-hospital mortality in cardioembolic stroke (27.3%, in our series) is the highest as compared with other subtypes of cerebral infarction. In our experience, in-hospital mortality in patients with early embolic recurrence (within the first 7 days) was 77%. Patients with alcohol abuse, hypertension, valvular heart disease, nausea and vomiting, and previous cerebral infarction are at increased risk of early recurrent systemic embolization. Secondary prevention with anticoagulants should be started immediately if possible in patients at high risk for recurrent cardioembolic stroke in which contraindications, such as falls, poor compliance, uncontrolled epilepsy or gastrointestinal bleeding are absent. PMID:21804774

  2. Intramuscular schwannoma: clinical and magnetic resonance imaging features

    PubMed Central

    Salunke, Abhijeet Ashok; Chen, Yongsheng; Tan, Jun Hao; Chen, Xi; Foo, Tun-Lin; Gartner, Louise Elizabeth; Puhaindran, Mark Edward

    2015-01-01

    INTRODUCTION Schwannomas that arise within the muscle plane are called intramuscular schwannomas. The low incidence of these tumours and the lack of specific clinical features make preoperative diagnosis difficult. Herein, we report our experience with intramuscular schwannomas. We present details of the clinical presentation, radiological diagnosis and management of these tumours. METHODS Between January 2011 and December 2013, 29 patients were diagnosed and treated for histologically proven schwannoma at the National University Hospital, Singapore. Among these 29 patients, eight (five male, three female) had intramuscular schwannomas. RESULTS The mean age of the eight patients was 40 (range 27–57) years. The most common presenting feature was a palpable mass. The mean interval between surgical treatment and the onset of clinical symptoms was 17.1 (range 4–72) months. Six of the eight tumours (75.0%) were located in the lower limb, while 2 (25.0%) were located in the upper limb. None of the patients had any preoperative neurological deficits. Tinel’s sign was present in one patient. Magnetic resonance (MR) imaging showed that the findings of split-fat sign, low signal margin and fascicular sign were present in all patients. The entry and exit sign was observed in 4 (50.0%) patients, a hyperintense rim was observed in 7 (87.5%) patients and the target sign was observed in 5 (62.5%) patients. All patients underwent microsurgical excision of the tumour and none developed any postoperative neurological deficits. CONCLUSION Intramuscular schwannomas demonstrate the findings of split-fat sign, low signal margin and fascicular sign on MR imaging. These findings are useful for the radiological diagnosis of intramuscular schwannoma. PMID:26512147

  3. Key features and clinical variability of COG6-CDG.

    PubMed

    Rymen, Daisy; Winter, Julia; Van Hasselt, Peter M; Jaeken, Jaak; Kasapkara, Cigdem; Gokçay, Gulden; Haijes, Hanneke; Goyens, Philippe; Tokatli, Aysegul; Thiel, Christian; Bartsch, Oliver; Hecht, Jochen; Krawitz, Peter; Prinsen, Hubertus C M T; Mildenberger, Eva; Matthijs, Gert; Kornak, Uwe

    2015-11-01

    The conserved oligomeric Golgi (COG) complex consists of eight subunits and plays a crucial role in Golgi trafficking and positioning of glycosylation enzymes. Mutations in all COG subunits, except subunit 3, have been detected in patients with congenital disorders of glycosylation (CDG) of variable severity. So far, 3 families with a total of 10 individuals with biallelic COG6 mutations have been described, showing a broad clinical spectrum. Here we present 7 additional patients with 4 novel COG6 mutations. In spite of clinical variability, we delineate the core features of COG6-CDG i.e. liver involvement (9/10), microcephaly (8/10), developmental disability (8/10), recurrent infections (7/10), early lethality (6/10), and hypohidrosis predisposing for hyperthermia (6/10) and hyperkeratosis (4/10) as ectodermal signs. Regarding all COG6-related disorders a genotype-phenotype correlation can be discerned ranging from deep intronic mutations found in Shaheen syndrome as the mildest form to loss-of-function mutations leading to early lethal CDG phenotypes. A comparison with other COG deficiencies suggests ectodermal changes to be a hallmark of COG6-related disorders. Our findings aid clinical differentiation of this complex group of disorders and imply subtle functional differences between the COG complex subunits. PMID:26260076

  4. [Bronchiolitis. Part 1--anatomic features, classification, clinical presentation and imaging].

    PubMed

    Kroegel, C; Haidl, P; Kohlhäufl, M; Voshaar, T

    2012-01-01

    The term "bronchiolitis" refers to a broad spectrum of common conditions related to the small airways associated with a miscellaneous aetiology, histology, clinical features and course. Due to their variability, bronchiolar disorders are generally difficult to diagnose. History (smoking, collagen vascular disease, inhalational injury, medication usage, and organ transplant) may point towards a bronchiolar process. In addition, signs of systemic and pulmonary infection and evidence of air trapping may provide diagnostic hints. Although clinical presentation, physical examination, pulmonary function tests (obstructive ventilatory defect), and plain chest radiographs may demonstrate abnormalities suggesting small airways involvement, they are often non-specific and rarely diagnostic. In contrast, the high-resolution CT (HR-CT) scanning of the chest provides three distinct HR-CT patterns that assist in the diagnosis and differential diagnosis of bronchiolar conditions: (i) a tree-in-bud pattern, (ii) ill-defined centrilobular ground-glass nodules, and (iii) a mosaic attenuation pattern (best visible on expiratory images). The present paper summarises the current knowledge, the classification, imaging, and the clinical presentation of bronchiolar disorders. PMID:22250053

  5. Disease-causing mitochondrial heteroplasmy segregated within induced pluripotent stem cell clones derived from a MELAS patient

    PubMed Central

    Folmes, Clifford D.L.; Martinez-Fernandez, Almudena; Perales-Clemente, Ester; Li, Xing; McDonald, Amber; Oglesbee, Devin; Hrstka, Sybil; Perez-Terzic, Carmen; Terzic, Andre; Nelson, Timothy J.

    2013-01-01

    Mitochondrial diseases display pathological phenotypes according to the mixture of mutant versus wild-type mitochondrial DNA (mtDNA), known as heteroplasmy. We herein examined the impact of nuclear reprogramming and clonal isolation of induced pluripotent stem cells (iPSC) on mitochondrial heteroplasmy. Patient-derived dermal fibroblasts with a prototypical mitochondrial deficiency diagnosed as MELAS demonstrated mitochondrial dysfunction with reduced oxidative reserve due to heteroplasmy at position G13513A in the ND5 subunit of complex I. Bioengineered iPSC clones acquired pluripotency with multi-lineage differentiation capacity and demonstrated reduction in mitochondrial density and oxygen consumption distinguishing them from the somatic source. Consistent with the cellular mosaicism of the original patient-derived fibroblasts, the MELAS-iPSC clones contained a similar range of mtDNA heteroplasmy of the disease-causing mutation with identical profiles in the remaining mtDNA. High-heteroplasmy iPSC clones were used to demonstrate that extended stem cell passaging was sufficient to purge mutant mtDNA, resulting in isogenic iPSC subclones with various degrees of disease-causing genotypes. Upon comparative differentiation of iPSC clones, improved cardiogenic yield was associated with iPSC clones containing lower heteroplasmy compared to isogenic clones with high heteroplasmy. Thus, mtDNA heteroplasmic segregation within patient-derived stem cell lines enables direct comparison of genotype/phenotype relationships in progenitor cells and lineage-restricted progeny, and indicates that cell fate decisions are regulated as a function of mtDNA mutation load. The novel nuclear reprogramming-based model system introduces a disease-in-a-dish tool to examine the impact of mutant genotypes for MELAS patients in bioengineered tissues and a cellular probe for molecular features of individual mitochondrial diseases. PMID:23553816

  6. AB129. Osteogenesis imperfecta: clinical features and bisphosphonate treatment outcome

    PubMed Central

    Can, Ngoc Thi Bich; Vu, Dung Chi; Bui, Thao Phuong; Nguyen, Khanh Ngoc

    2015-01-01

    Background and objective Osteogenesis imperfecta (OI) comprises a group of disorders principally affecting type I collagen which result in increased bone fragility. Children with severe OI suffer recurrent fractures, resulting in severe deformity and growth stunting in many cases, with loss of independent ambulation by the teenage years in over 50% of cases. Recently, cyclical intravenous treatment with pamidronate has proven of benefit to children with severe forms of OI. This article aims to describle clinical features and laboratory manifestations of patient with OI and evaluate outcome of bisphosphonate management. Methods Clinical features, biochemical finding, and management outcome of 104 cases were study. The patients were classified into four major subtypes of Sillience et al. 1979. Patients with severe types were treatment with pamidronate (Aredia) used Rauch protocol 2003. Results Now we have 196 patients (87 females and 109 males) but we studied focus on 104 patients from 98 families (60 males, 44 females) onset at 2.1±3.0 years (median 0.35) with the average fracture bone of 5.9±4.4 times. In there, 17% type I, 8% type II, 63% type III, and 12% type IV. Clinical features include of intrauterine fracture visible on ultrasound 35%, bone deformation after birth 68%, triangle face 76%, long bone deformation 91%, chest deformation 46%, scoliosis 27%, short status 90%, blue sclera 83%, dentinogenesis imperfecta 20%, hearing loss 6%. Thirty patients have been treated with pamidronate at 3.2±3.7 years (4 months to 8 years) during 13±0.8 months (6-30 months). Fourteen patients had fracture bone after 6 months of treatment but no patients had fracture bone after 12 months. Seven patients had been treatment after 1.6±0.5 years, BMD increase from 0.39±0.311 to 0.79±0.105 g/cm2 (P<0.05). One patient had fever reaction after first pamidronate infusion but controlled with standard antipyretic therapy, and do not recur in later treatments. Conclusions OI has seriously affected the life of the patients and bisphosphonate therapy has shown some real long-term promise in the treatment of young patients with OI. No significant side effects have been noted, which is of the utmost importance in therapy destined for children.

  7. Key clinical features to identify girls with CDKL5 mutations.

    PubMed

    Bahi-Buisson, Nadia; Nectoux, Juliette; Rosas-Vargas, Haydeé; Milh, Mathieu; Boddaert, Nathalie; Girard, Benoit; Cances, Claude; Ville, Dorothée; Afenjar, Alexandra; Rio, Marlène; Héron, Delphine; N'guyen Morel, Marie Ange; Arzimanoglou, Alexis; Philippe, Christophe; Jonveaux, Philippe; Chelly, Jamel; Bienvenu, Thierry

    2008-10-01

    Mutations in the human X-linked cyclin-dependent kinase-like 5 (CDKL5) gene have been shown to cause infantile spasms as well as Rett syndrome (RTT)-like phenotype. To date, less than 25 different mutations have been reported. So far, there are still little data on the key clinical diagnosis criteria and on the natural history of CDKL5-associated encephalopathy. We screened the entire coding region of CDKL5 for mutations in 183 females with encephalopathy with early seizures by denaturing high liquid performance chromatography and direct sequencing, and we identified in 20 unrelated girls, 18 different mutations including 7 novel mutations. These mutations were identified in eight patients with encephalopathy with RTT-like features, five with infantile spasms and seven with encephalopathy with refractory epilepsy. Early epilepsy with normal interictal EEG and severe hypotonia are the key clinical features in identifying patients likely to have CDKL5 mutations. Our study also indicates that these patients clearly exhibit some RTT features such as deceleration of head growth, stereotypies and hand apraxia and that these RTT features become more evident in older and ambulatory patients. However, some RTT signs are clearly absent such as the so called RTT disease profile (period of nearly normal development followed by regression with loss of acquired fine finger skill in early childhood and characteristic intensive eye communication) and the characteristic evolution of the RTT electroencephalogram. Interestingly, in addition to the overall stereotypical symptomatology (age of onset and evolution of the disease) resulting from CDKL5 mutations, atypical forms of CDKL5-related conditions have also been observed. Our data suggest that phenotypic heterogeneity does not correlate with the nature or the position of the mutations or with the pattern of X-chromosome inactivation, but most probably with the functional transcriptional and/or translational consequences of CDKL5 mutations. In conclusion, our report show that search for mutations in CDKL5 is indicated in girls with early onset of a severe intractable seizure disorder or infantile spasms with severe hypotonia, and in girls with RTT-like phenotype and early onset seizures, though, in our cohort, mutations in CDKL5 account for about 10% of the girls affected by these disorders. PMID:18790821

  8. Meningioangiomatosis. A comprehensive analysis of clinical and laboratory features.

    PubMed

    Wiebe, S; Munoz, D G; Smith, S; Lee, D H

    1999-04-01

    Meningioangiomatosis (MA) is a rare, benign, focal lesion of the leptomeninges and underlying cerebral cortex characterized by leptomeningeal and meningovascular proliferation. It may occur sporadically or in association with neurofibromatosis type 2. Previous reports have emphasized histological and imaging features. Data on the management of these patients are sparse, and electrophysiological features of MA lesions have not been published. We assessed the clinical, electrophysiological, histopathological and imaging features as well as the surgical outcome in MA, and compared MA with and without neurofibromatosis. Seven patients with MA at our centre were investigated and their outcome was assessed. A review of the literature is included. MA exhibits a wide range of clinical, imaging, histopathological and electrophysiological features, making the diagnosis difficult. Sporadic MA cases are not associated with neurofibromatosis and the two disorders are genetically distinct. Medically refractory, localization-related epilepsy is the commonest presentation in sporadic cases, but atypical presentations also occur. Unlike sporadic cases, MA with neurofibromatosis is often found incidentally, does not produce seizures, occurs less frequently (ratio of 1:4), and is multifocal. MRI findings in MA correspond to the histological picture. However, the appearance on imaging is non-specific and may suggest cystic atrophy, angioma and tumours. Several abnormalities have been found in close proximity to MA lesions, i.e. meningioma, oligodendroglioma, arteriovenous malformation, encephalocoel and orbital erosion. In spite of histopathological diversity, MA lesions are either predominantly cellular or vascular. Immunohistochemical results are inconsistent among cases, add little to the diagnosis, and do not support a meningeal origin. Electrocorticographic recordings from the surface and within MA lesions revealed a spectrum of electrophysiological expressions. Intrinsic epileptogenicity of MA lesions was documented in some cases. Epileptogenicity was confined to the perilesional cortex in some patients and it was complex (extralesional, multifocal, generalized) in others. Only 43% of our patients became seizure-free postoperatively compared with 68% previously reported, and >70% of our patients and those in the literature continued to require antiepileptic drugs. This is in keeping with the diverse electrophysiology of MA and suggests a less optimistic postoperative outcome than previously recognized. PMID:10219783

  9. Diffuse Lewy body disease: clinical features in 15 cases.

    PubMed Central

    Byrne, E J; Lennox, G; Lowe, J; Godwin-Austen, R B

    1989-01-01

    Fifteen cases of diffuse Lewy body disease were diagnosed on pathological grounds during a single year in one health district. The range and frequency of clinical features contrast strikingly with previous reports. The majority of cases presented with classical levodopa-responsive Parkinson's disease either alone (6 cases) or with mild cognitive impairment (3 cases); the remaining 6 cases presented with cognitive impairment alone. In time almost all patients developed both dementia and Parkinsonism. The dementia was cortical in type, but unusual in that most (12 cases) showed day-to-day fluctuation in severity at some point in their illness. These findings suggest that diffuse Lewy body disease is not rare, and that it presents in a range of ways from dementia with subsequent Parkinsonism to Parkinson's disease with subsequent dementia. The latter mode of presentation suggests that it should be considered as a significant pathological substrate of dementia in Parkinson's disease. Images PMID:2545827

  10. Nocturnal panic attacks: clinical features and respiratory connections.

    PubMed

    Levitan, Michelle N; Nardi, Antonio E

    2009-02-01

    The clinical and therapeutic aspects of nocturnal panic attacks (NPAs) remain poorly understood. Some authors present NPAs as a more severe and less cognitive form of panic disorder (PD), whereas others treat it as a different manifestation of conventional panic attack. Overall, few articles address NPA relative to the large amount of literature regarding PD. Important aspects regarding the management of NPAs, such as the appropriate pharmacological and psychological treatment, rely on relatively few studies. This review provides an update and review of the most relevant articles regarding conceptualization of NPA, differential diagnosis, comorbidities, treatments, etiological theories and new investigations developed by various research centers. We also discuss the etiological hypotheses of NPAs, focusing on the suffocation false alarm theory and conditioned fear. NPA patients may represent a subtype of PD with specific agoraphobic features, respiratory connections and unique therapeutic aspects. PMID:19210198

  11. [Clinical and microbiological features of Salmonella gastroenteritis in children].

    PubMed

    Saporito, Laura; Colomba, Claudia; Scarlata, Francesco; Li Vecchi, Vatentina; Mammina, Caterina; Titone, Lucina

    2007-03-01

    The aim of our study was to evaluate the role of Salmonella spp in children hospitalised for acute gastroenteritis, and to study clinical and microbiological features of paediatric salmonellosis in our geographical area. In all, 540 patients admitted from March to September 2003 with symptoms of acute enteritis to the Infectious Diseases department of the "G. Di Cristina" hospital in Palermo were enrolled. Stool samples were collected within 48 hours of admission and tested for intestinal pathogens (bacterial, viral, parasites). Salmonella spp was detected in 18.5% of samples. The median age of infected children was 4.5 years. Salmonella enteritidis (49%) and Salmonella typhimurium (37%) were the most commonly identified genotypes. S. enteritidis infection was more frequently characterized by vomiting (65.3%) and dehydration (61.2%). Bloody diarrhoea was more common in S. typhimurium infection (40.5%). All strains were susceptible to ceftriaxone, while 40% of strains were resistant to tetracyclines and 37% to ampicillin. PMID:17515672

  12. [Clinical features of sleep disorders in older adults].

    PubMed

    Chiba, Shigeru; Tamura, Yoshiyuki

    2015-06-01

    There are three major neurophysiological mechanisms underlying the sleep-waking cycle: the sleep system, the waking system, and the system that determines sleep-waking timing. Sleep dlisorders of older adults seem to be caused by functional or organic changes in one or more of the three systems, and are roughly classified into two categories: (i) normal age-related, and (ii) pathological. The former includes decreased amplitude and advanced phase of circadian rhythms (body temperature, melatonin secretion, and sleep-waking), as well as reduced sleep duration, sleep fragmentation, and a decrease of slow-wave sleep in sleep architecture. Pathological sleep disorders include medical and psychiatric diseases (e.g., lifestyle-related diseases, dementia, delirium, and depression) and primary age-related sleep disorders (e.g., REM sleep behavior disorder and periodic limb move- ment disorders). This mini-review delineates the clinical features of sleep disorders in older adults. PMID:26065118

  13. Dermoscopic and clinical features of head and neck melanoma*

    PubMed Central

    Cengiz, Fatma Pelin; Cengiz, Abdurrahman Bugra; Emiroglu, Nazan; Comert, Ela; Wellenhof, Rainer Hofmann

    2015-01-01

    BACKGROUND The dermoscopic criteria of extrafacial melanomas are well-known. OBJECTIVE To determine the frequency of dermatoscopic findings in head and neck melanomas (HNM) and to assess the distinguishing dermoscopic criteria of facial and extrafacial melanoma. METHODS This observational study included 108 patients with HNM (63% male, mean age 64 years). Participants underwent individual dermoscopic imaging of clinically melanoma. All lesions were excised, and histopathological examination was performed on all specimens. RESULTS Drawing on histopathological analysis, lentigo maligna melanoma or lentigo maligna was diagnosed in 60 lesions, superficial spreading melanoma in 18, nodular in 10, desmoplastic in 8, superficial spreading melanoma in situ in 12. The most frequent location for head and neck melanoma was the cheek (60 patients, 55.6%). Eight prominent dermatoscopic features were observed in facial melanoma: annular-granular pattern (18%); rhomboidal structures (29%); pseudonetwork (29%); asymmetrical, pigmented, follicular openings (51%); obliterated hair follicles (8%); red rhomboidal structures (18%); increased density of the vascular network (32%); scar-like depigmentation (59%). CONCLUSIONS HNM has specific dermoscopic features, and classical extrafacial dermoscopic rules are less useful for diagnosis of facial melanoma. In our study, further characteristic dermatoscopic findings were detected in facial melanoma such as low frequencies of irregular dots, 2 or fewer colors in lesions, the presence of pseudonetwork, increased density of the vascular network, red rhomboidal structures, in addition to dermatoscopic findings of extrafacial melanoma. Thus, it is concluded that the prediction and identification of HNM may be evident with the help of these signs. PMID:26375217

  14. Uremic neuropathy: clinical features and new pathophysiological insights.

    PubMed

    Krishnan, Arun V; Kiernan, Matthew C

    2007-03-01

    Neuropathy is a common complication of end-stage kidney disease (ESKD), typically presenting as a distal symmetrical process with greater lower-limb than upper-limb involvement. The condition is of insidious onset, progressing over months. and has been estimated to be present in 60%-100% of patients on dialysis. Neuropathy generally only develops at glomerular filtration rates of less than 12 ml/min. The most frequent clinical features reflect large-fiber involvement, with paresthesias, reduction in deep tendon reflexes, impaired vibration sense, muscle wasting, and weakness. Nerve conduction studies demonstrate findings consistent with a generalized neuropathy of the axonal type. Patients may also develop autonomic features, with postural hypotension, impaired sweating, diarrhea, constipation, or impotence. The development of uremic neuropathy has been related previously to the retention of neurotoxic molecules in the middle molecular range, although this hypothesis lacked formal proof. Studies utilizing novel axonal excitability techniques have recently shed further light on the pathophysiology of this condition. Nerves of uremic patients have been shown to exist in a chronically depolarized state prior to dialysis, with subsequent improvement and normalization of resting membrane potential after dialysis. The degree of depolarization correlates with serum K(+), suggesting that chronic hyperkalemic depolarization plays an important role in the development of nerve dysfunction in ESKD. These recent findings suggest that maintenance of serum K(+) within normal limits between periods of dialysis, rather than simple avoidance of hyperkalemia, is likely to reduce the incidence and severity of uremic neuropathy. PMID:17195171

  15. Clinical features of pedophilia and implications for treatment.

    PubMed

    Cohen, Lisa J; Galynker, Igor I

    2002-09-01

    The authors discuss the diagnostic criteria for pedophilia and review the literature on its clinical features, including data on prevalence, gender, age of onset, number of victims, frequency and type of acts, violence, impulsivity, and insight. Findings concerning the characteristics of victims (e.g., sex, age, relationship to the pedophile) and research on pedophilic subtypes-exclusive versus nonexclusive; incestuous versus nonincestuous; heterosexual, homosexual, or bisexual-are reviewed. Studies have shown that pedophiles may share many psychiatric features beyond deviant sexual desire, including high rates of comorbid axis I disorders (affective disorders, substance use disorders, impulse control disorders, other paraphilias) as well as severe axis II psychopathology (especially antisocial and Cluster C personality disorders). The authors present several possible etiological models for pedophilia and conclude that further research is needed concerning the etiological role of a childhood history of sexual abuse as well as the underlying neurobiology of deviant sexual arousal and decreased erotic differentiation. Finally, findings concerning pharmacological and cognitive-behavioral treatments for pedophilia are briefly reviewed. Recidivism, drop-out, and noncompliance are significant problems in the treatment of pedophilia. The authors review predictors of treatment outcome and conclude that pedophilia is extremely difficult to treat and that effective treatment needs to be intensive, long-term, and comprehensive, possibly with lifetime follow-up. PMID:15985890

  16. Hepatopulmonary syndrome: update on pathogenesis and clinical features.

    PubMed

    Zhang, Junlan; Fallon, Michael B

    2012-09-01

    Hepatopulmonary syndrome (HPS) is a serious vascular complication of liver disease that occurs in 5-32% of patients with cirrhosis. The presence of HPS markedly increases mortality. No effective medical therapies are currently available and liver transplantation is the only established treatment option for HPS. The definition and diagnosis of HPS are established by the presence of a triad of liver disease with intrapulmonary vascular dilation that causes abnormal arterial gas exchange. Experimental biliary cirrhosis induced by common bile duct ligation in the rat reproduces the pulmonary vascular and gas exchange abnormalities of human HPS and serves as a pertinent animal model. Pulmonary microvascular dilation and angiogenesis are two central pathogenic features that drive abnormal pulmonary gas exchange in experimental HPS, and thus might underlie HPS in humans. Defining the mechanisms involved in the microvascular alterations of HPS has the potential to lead to effective medical therapies. This Review focuses on the current understanding of the pathogenesis, clinical features and management of HPS. PMID:22751459

  17. Extraocular retinoblastoma in Indian children: clinical, imaging and histopathological features

    PubMed Central

    Sethi, Sumita; Pushker, Neelam; Kashyap, Seema; Sharma, Sanjay; Mehta, Mridula; Bakhshi, Sameer; Khurana, Saurbhi; Ghose, Supriyo

    2013-01-01

    AIM To study eyes with extraocular dissemination (EORB), with the following aims: first to establish the mean lag period and to understand various reasons for delayed presentation, second to study their imaging profiles and third to analyze histopathological features of eyes enucleated after neoadjuvant chemotherapy. METHODS Prospective study of clinical and imaging features of EORBs (stage III and IV International Retinoblastoma Staging System) presenting to a tertiary eye care centre. Histopathological features of eyes enucleated after receiving neoadjuvant chemotherapy were analyzed. A pictorial illustration of the varied imaging profile of EORB was also presented. RESULTS Over a period of one year, 97 eyes were diagnosed with retinoblastoma; 32 children (36 eyes) (37.1%) had EORB. Mean age 3.6±1.9 years, 71.9% males, 71.9% unilateral, 3.1% with positive family history and 40.6% with metastasis. On imaging, there was extrascleral involvement in 22.2%, involvement of orbital part of optic nerve in 33.3%, involvement of central nervous system in 27.8% and orbital wall involvement in 2.9% eyes. On histopathological analysis of eyes enucleated after neoadjuvant chemotherapy, 25.0% had no residual viable tumour tissue and rest all tumours were poorly differentiated. CONCLUSION There are very few human malignancies where definitive treatment is started without any confirmed histopathological diagnosis and imaging plays an important role in diagnosis and appropriate staging of the disease. Chemotherapy has a variable effect on EORB, 75.0% of eyes with EORB had residual viable tumour tissue when enucleated after receiving neoadjuvant chemotherapy. PMID:23991383

  18. Layers and a Dust Devil in Melas Chasma

    NASA Technical Reports Server (NTRS)

    2000-01-01

    One of the earliest observations made by the Mars Global Surveyor (MGS) Mars Orbiter Camera (MOC) was that the upper crust of the planet appears to be layered to considerable depth. This was especially apparent, early in the mission, in the walls of the Valles Marineris chasms. However, layered mesas and mounds within the Valles Marineris troughs were recognized all the way back in 1972 with Mariner 9 images. The MOC image presented here shows many tens of layers of several meters (yards) thickness in the walls of a mesa in southern Melas Chasma in Valles Marineris. Erosion by mass wasting--landslides--has exposed these layers and created the dark fan-shaped deposits seen near the middle of the image. The floor of Melas Chasma is dark and covered with many parallel ridges and grooves (lower 1/3 of image). In the lower left corner of the picture, a bright, circular dust devil can be seen casting a columnar shadow toward the left. This image, illuminated by sunlight from the right/lower right, covers an area 3 kilometers (1.9 miles) wide and 8.2 kilometers (5.1 miles) long. The scene is located near 10.1oS, 74.4oW and was acquired on July 11, 1999. North is toward the lower left.

  19. Clinical and molecular features of Joubert syndrome and related disorders

    PubMed Central

    Parisi, Melissa A.

    2009-01-01

    Joubert syndrome (JBTS; OMIM 213300) is a rare, autosomal recessive disorder characterized by a specific congenital malformation of the hindbrain and a broad spectrum of other phenotypic findings that is now known to be caused by defects in the structure and/or function of the primary cilium. The complex hindbrain malformation that is characteristic of JBTS can be identified on axial magnetic resonance imaging and is known as the molar tooth sign (MTS); other diagnostic criteria include intellectual disability, hypotonia, and often, abnormal respiratory pattern and/or abnormal eye movements. In addition, a broad spectrum of other anomalies characterize Joubert syndrome and related disorders (JSRD), and may include retinal dystrophy, ocular coloboma, oral frenulae and tongue tumors, polydactyly, cystic renal disease (including cystic dysplasia or juvenile nephronophthisis), and congenital hepatic fibrosis. The clinical course can be variable, but most children with this condition survive infancy to reach adulthood. At least 8 genes cause JSRD, with some genotype-phenotype correlations emerging, including the association between mutations in the MKS3 gene and hepatic fibrosis characteristic of the JSRD subtype known as COACH syndrome. Several of the causative genes for JSRD are implicated in other ciliary disorders, such as juvenile nephronophthisis and Meckel syndrome, illustrating the close association between these conditions and their overlapping clinical features that reflect a shared etiology involving the primary cilium. PMID:19876931

  20. Clinical features of schizophrenia with enhanced carbonyl stress.

    PubMed

    Miyashita, Mitsuhiro; Arai, Makoto; Kobori, Akiko; Ichikawa, Tomoe; Toriumi, Kazuya; Niizato, Kazuhiro; Oshima, Kenichi; Okazaki, Yuji; Yoshikawa, Takeo; Amano, Naoji; Miyata, Toshio; Itokawa, Masanari

    2014-09-01

    Accumulating evidence suggests that advanced glycation end products, generated as a consequence of facilitated carbonyl stress, are implicated in the development of a variety of diseases. These diseases include neurodegenerative illnesses, such as Alzheimer disease. Pyridoxamine is one of the 3 forms of vitamin B6, and it acts by combating carbonyl stress and inhibiting the formation of AGEs. Depletion of pyridoxamine due to enhanced carbonyl stress eventually leads to a decrease in the other forms of vitamin B6, namely pyridoxal and pyridoxine. We previously reported that higher levels of plasma pentosidine, a well-known biomarker for advanced glycation end products, and decreased serum pyridoxal levels were found in a subpopulation of schizophrenic patients. However, there is as yet no clinical characterization of this subset of schizophrenia. In this study, we found that these patients shared many clinical features with treatment-resistant schizophrenia. These include a higher proportion of inpatients, low educational status, longer durations of hospitalization, and higher doses of antipsychotic medication, compared with patients without carbonyl stress. Interestingly, psychopathological symptoms showed a tendency towards negative association with serum vitamin B6 levels. Our results support the idea that treatment regimes reducing carbonyl stress, such as supplementation of pyridoxamine, could provide novel therapeutic benefits for this subgroup of patients. PMID:24062594

  1. Incidence and clinical features of endoscopic ulcers developing after gastrectomy

    PubMed Central

    Chung, Woo Chul; Jeon, Eun Jung; Lee, Kang-Moon; Paik, Chang Nyol; Jung, Sung Hoon; Oh, Jung Hwan; Kim, Ji Hyun; Jun, Kyong-Hwa; Chin, Hyung Min

    2012-01-01

    AIM: To determine the precise incidence and clinical features of endoscopic ulcers following gastrectomy. METHODS: A consecutive series of patients who underwent endoscopic examination following gastrectomy between 2005 and 2010 was retrospectively analyzed. A total of 78 patients with endoscopic ulcers and 759 without ulcers following gastrectomy were enrolled. We analyzed differences in patient age, sex, size of the lesions, method of operation, indications for gastric resection, and infection rates of Helicobacter pylori (H. pylori) between the nonulcer and ulcer groups. RESULTS: The incidence of endoscopic ulcers after gastrectomy was 9.3% and that of marginal ulcers was 8.6%. Ulcers were more common in patients with Billroth II anastomosis and pre-existing conditions for peptic ulcer disease (PUD). Infection rates of H. pyloridid not differ significantly between the two groups. The patients who underwent operations to treat PUD had lower initial levels of hemoglobin and higher rates of hospital admission. CONCLUSION: H. pylori was not an important factor in ulcerogenesis following gastrectomy. For patients who underwent surgery for PUD, clinical course of marginal ulcers was more severe. PMID:22783050

  2. Spontaneous Intracranial Hypotension: Clinical Presentation, Imaging Features and Treatment

    PubMed Central

    Park, Eun-Soo

    2009-01-01

    Objective In the present study, the authors investigated the clinical and imaging features as well as the therapeutic outcomes of SIH (spontaneous intracranial hypotension) patients. Methods A retrospective review of 12 SIH patients was carried out. The diagnostic work-up included lumbar tapping and measurement of CSF opening pressure, radioisotope cisternography, brain and spinal magnetic resonance imaging (MRI), and computed tomography (CT) myelography. Autologous epidural blood patching was performed in patients who did not respond to conservative therapies, including analgesics, steroids, hydration and rest. Results Typical postural headache was found in 11 (91%) patients. Nine (75%) patients showed pachymeningeal enhancement on their initial T1-weighted MR images. The CSF opening pressure was less than 60 mmH2O in 9 of 11 patients. Autologous epidural blood patching was performed in 7 patients, and all of them showed good responses. Conclusion SIH can present with various clinical presentations and neuroimaging findings. Autologous epidural blood patching is thought to be the treatment of choice for patients with SIH. PMID:19242563

  3. Clinical Features and Outcomes of Pasteurella multocida Infection.

    PubMed

    Giordano, Antonio; Dincman, Toros; Clyburn, Benjamin E; Steed, Lisa L; Rockey, Don C

    2015-09-01

    Pasteurella multocida, a zoonotic infectious organism, has most often been described in patients after an animal bite. Here, we characterize the clinical features and outcomes of P multocida infection in a large cohort of patients according to the presence or absence of an animal bite.We retrospectively searched MUSC's laboratory information system for all patients with positive P multocida cultures from 2000 to 2014. Extensive data were abstracted, including clinical and outcome data. The Charlson comorbidity index (CCI) was used to assess comorbidities among patients.We identified 44 patients with P multocida infections, including 25 with an animal bite. The average age was 64 years and the majority of patients were women (N?=?30). There was no difference in age and sex distribution among those with and without a bite (P?=?0.38 and 0.75, respectively). A CCI ?1 was significantly associated with the absence of a bite (P?=?0.006). Patients presenting without a bite were more frequently bacteremic (37% vs 4%, respectively, P?=?0.001), and were hospitalized more often (84% vs 44%, respectively, P?=?0.012). Of the 8 patients who required intensive care unit (ICU)-based care, 7 were non-bite-related. There were 4 deaths, all occurring in patients not bitten.P multocida infections not associated with an animal bite were often associated with bacteremia, severe comorbidity(ies), immune-incompetent states, the need for ICU management, and were associated with substantial mortality. PMID:26356688

  4. Clinical Features and Outcomes of Pasteurella multocida Infection

    PubMed Central

    Giordano, Antonio; Dincman, Toros; Clyburn, Benjamin E.; Steed, Lisa L.; Rockey, Don C.

    2015-01-01

    Abstract Pasteurella multocida, a zoonotic infectious organism, has most often been described in patients after an animal bite. Here, we characterize the clinical features and outcomes of P multocida infection in a large cohort of patients according to the presence or absence of an animal bite. We retrospectively searched MUSC's laboratory information system for all patients with positive P multocida cultures from 2000 to 2014. Extensive data were abstracted, including clinical and outcome data. The Charlson comorbidity index (CCI) was used to assess comorbidities among patients. We identified 44 patients with P multocida infections, including 25 with an animal bite. The average age was 64 years and the majority of patients were women (N?=?30). There was no difference in age and sex distribution among those with and without a bite (P?=?0.38 and 0.75, respectively). A CCI ?1 was significantly associated with the absence of a bite (P?=?0.006). Patients presenting without a bite were more frequently bacteremic (37% vs 4%, respectively, P?=?0.001), and were hospitalized more often (84% vs 44%, respectively, P?=?0.012). Of the 8 patients who required intensive care unit (ICU)-based care, 7 were non-bite-related. There were 4 deaths, all occurring in patients not bitten. P multocida infections not associated with an animal bite were often associated with bacteremia, severe comorbidity(ies), immune-incompetent states, the need for ICU management, and were associated with substantial mortality. PMID:26356688

  5. Clinical and laboratory features of Macedonian children with OCRL mutations.

    PubMed

    Tasic, Velibor; Lozanovski, Vladimir J; Korneti, Petar; Ristoska-Bojkovska, Nadica; Sabolic-Avramovska, Vesna; Gucev, Zoran; Ludwig, Michael

    2011-04-01

    OCRL mutations, which are a hallmark of Lowe syndrome, have recently been found in patients with isolated renal phenotype (Dent-2 disease). In this report, we describe clinical and laboratory features in five Macedonian children with mutations in the OCRL gene. Children with a clinical diagnosis of Lowe syndrome or Dent disease underwent complete neurological and ophthalmological examination, imaging of the kidney and urinary tract, assessment of renal tubular function, and mutation analysis of the OCRL gene. Two children (18 months and 11 years, respectively) were diagnosed with Lowe syndrome on the basis of congenital cataracts, severe psychomotor retardation, and renal dysfunction. Both children had low molecular weight proteinuria (LMWP) and hypercalciuria, but not Fanconi syndrome. The older one had bilateral nephrolithiasis due to associated hypocitraturia and mild hyperoxaluria. Three children with asymptomatic proteinuria were diagnosed with Dent-2 disease; none had cataracts or neurological deficit. One child showed mild mental retardation. All had LMWP, hypercalciuria, and elevated enzymes (creatine phosphokinase, lactic dehydrogenase). All three children had an abnormal Tc-99m DMSA scan revealing poor visualization of the kidneys with a high radionuclide content in the bladder; none had nephrolithiasis or nephrocalcinosis. In conclusion, children with OCRL mutations may present with very mild phenotype (asymptomatic proteinuria with/without mild mental retardation) or severe classic oculocerebrorenal syndrome of Lowe. Elevated enzymes and abnormal results on the Tc-99m DMSA scan may be useful indicators for Dent-2 disease. PMID:21249396

  6. Clinical features of endemic community-acquired psittacosis

    PubMed Central

    Branley, J M; Weston, K M; England, J; Dwyer, D E; Sorrell, T C

    2014-01-01

    Following a large outbreak of community-acquired psittacosis in 2002 in residents of the Blue Mountains, New South Wales, Australia, we reviewed new cases in this area over a 7-year period from 2003 to 2009. Using the 2010 criteria from the Centers for Disease Control National Notifiable Diseases Surveillance System, 85 patients with possible psittacosis were identified, of which 48 were identified as definite or probable infection. Clinical features of these cases are summarized. In addition to Chlamydia-specific serology, specimens, where available, underwent nucleic acid testing for chlamydial DNA using real-time PCR. Chlamydophila psittaci DNA was detected in samples from 23 patients. Four of 18 specimens were culture positive. This is the first description of endemic psittacosis, and is characterized in this location by community-acquired psittacosis resulting from inadvertent exposure to birds. The disease is likely to be under-diagnosed, and may often be mistaken for gastroenteritis or meningitis given the frequency of non-respiratory symptoms, particularly without a history of contact with birds. Clinical characteristics of endemic and outbreak-associated cases were similar. The nature of exposure, risk factors and reasons for the occurrence of outbreaks of psittacosis require further investigation. PMID:25356332

  7. [Clinical, neuropsychological and neuroimaging features of patients with mixed dementia.

    PubMed

    Trusova, N A; Levin, O S; Arablinski?, A V; Makotrova, T A; Vasenina, E E

    2014-01-01

    Objective. Mixed dementia (MD), characterized by a combination of Alzheimer's disease (AD) and cerebrovascular disease, is one of the most common and, at the same time, poorly diagnosed forms of dementia in the elderly. The aim of our study was to investigate features of AD with its combination with cerebrovascular disease on the basis of clinical, neuropsychological and neuroimaging data. Material and methods. Authors examined 79 patients with dementia: 30 patients with AD, 33 patients with MD and 16 patients with vascular dementia. Patients with MD were older, had more often frontal gait disorders (48.5%), postural instability (45%), pseudobulbar syndrome (60%). Results and conclusion. The neuropsychological profile of patients with MD had mixed amnestic-dysexecutive character and, depending on the severity of vascular pathology, in some cases was closer to AD and in others to vascular dementia. A negative effect of vascular risk factors on medial temporal atrophy was found. Neuroimaging changes in MD were correlated with clinical manifestations. Proposed approaches to the diagnosis of MD help to determine more precisely the main directions of the treatment of patients and predict the course of the disease. PMID:25042500

  8. Clinical Features and Patient Management of Lujo Hemorrhagic Fever

    PubMed Central

    Sewlall, Nivesh H.; Richards, Guy; Duse, Adriano; Swanepoel, Robert; Paweska, Janusz; Blumberg, Lucille; Dinh, Thu Ha; Bausch, Daniel

    2014-01-01

    Background In 2008 a nosocomial outbreak of five cases of viral hemorrhagic fever due to a novel arenavirus, Lujo virus, occurred in Johannesburg, South Africa. Lujo virus is only the second pathogenic arenavirus, after Lassa virus, to be recognized in Africa and the first in over 40 years. Because of the remote, resource-poor, and often politically unstable regions where Lassa fever and other viral hemorrhagic fevers typically occur, there have been few opportunities to undertake in-depth study of their clinical manifestations, transmission dynamics, pathogenesis, or response to treatment options typically available in industrialized countries. Methods and Findings We describe the clinical features of five cases of Lujo hemorrhagic fever and summarize their clinical management, as well as providing additional epidemiologic detail regarding the 2008 outbreak. Illness typically began with the abrupt onset of fever, malaise, headache, and myalgias followed successively by sore throat, chest pain, gastrointestinal symptoms, rash, minor hemorrhage, subconjunctival injection, and neck and facial swelling over the first week of illness. No major hemorrhage was noted. Neurological signs were sometimes seen in the late stages. Shock and multi-organ system failure, often with evidence of disseminated intravascular coagulopathy, ensued in the second week, with death in four of the five cases. Distinctive treatment components of the one surviving patient included rapid commencement of the antiviral drug ribavirin and administration of HMG-CoA reductase inhibitors (statins), N-acetylcysteine, and recombinant factor VIIa. Conclusions Lujo virus causes a clinical syndrome remarkably similar to Lassa fever. Considering the high case-fatality and significant logistical impediments to controlled treatment efficacy trials for viral hemorrhagic fever, it is both logical and ethical to explore the use of the various compounds used in the treatment of the surviving case reported here in future outbreaks. Clinical observations should be systematically recorded to facilitate objective evaluation of treatment efficacy. Due to the risk of secondary transmission, viral hemorrhagic fever precautions should be implemented for all cases of Lujo virus infection, with specialized precautions to protect against aerosols when performing enhanced-risk procedures such as endotracheal intubation. PMID:25393244

  9. Angelman syndrome: etiology, clinical features, diagnosis, and management of symptoms.

    PubMed

    Guerrini, Renzo; Carrozzo, Romeo; Rinaldi, Roberta; Bonanni, Paolo

    2003-01-01

    It is estimated that Angelman syndrome (AS) accounts for up to 6% of all children presenting with severe mental retardation and epilepsy. The main clinical features of AS may not be apparent early in life. Clinical findings present in all patients include developmental delay, which becomes apparent by 6-12 months of age, severely impaired expressive language, ataxic gait, tremulousness of limbs, and a typical behavioral profile, including a happy demeanor, hypermotoric behavior, and low attention span. Seizures, abnormal electroencephalography, microcephaly, and scoliosis are observed in >80% of patients. Approximately 70% of patients show a deletion involving the maternally inherited chromosome 15q11-q13, encompassing a cluster of gamma-aminobutyric acid receptor subunit genes, 3% show chromosome 15 paternal uniparental disomy (UPD), 1% harbor a mutation in the imprinting center (a transcriptional regulatory element), and 6% harbor intragenic mutations of the ubiquitin-protein ligase E3A (UBE3A) gene. Twenty percent of patients have no detectable genetic abnormality. Rare cases of familial recurrence of AS show either imprinting center (IC) or UBE3A mutations. Approximately 75% of cases are detected through the methylation test, which allows the detection of AS due to deletions, UPD and IC mutations. Mutation analysis of the UBE3A gene should be performed when the methylation test is negative. Individuals with chromosome 15q11-q13 deletions have a more severe clinical picture and are more prone to develop severe epilepsy. Epilepsy has typical features, including absence and myoclonic seizures, and insidious episodes of nonconvulsive or subtle myoclonic status which are easily overlooked as children appear apathetic or in a state of neurologic regression. Tremulousness, present in all patients even when seizures are well controlled or absent, is related to distal cortical myoclonus. Valproic acid (sodium valproate), benzodiazepines, and ethosuximide, in various combinations, are quite effective in treating the typical seizure types. Piracetam may help in reducing distal myoclonus. Carbamazepine and vigabatrin may seriously aggravate absence and myoclonic seizures and should be avoided. Cognitive, language, and orthopedic problems must be addressed with vigorous rehabilitation programs, including early physical therapy, which may help to develop communicative skills and prevent severe scoliosis and subsequent immobility. Where these treatment strategies are applied, individuals with AS may reach an appreciable level of integration, self care, and have a normal life span. PMID:14510623

  10. Amebic liver abscess: epidemiology, clinical features, and outcome.

    PubMed Central

    Seeto, R K; Rockey, D C

    1999-01-01

    Amebic liver abscess (ALA) is a serious, but readily treatable form of hepatic infection. In order to understand the clinical features of this condition in the United States, we reviewed the medical histories of 56 patients with ALA at two large San Francisco Hospitals from 1979 to 1994. Patients were divided into the following groups based on the presumed manner in which they had acquired ALA: those born or raised in the United States, with a history of travel to an endemic area (Tr-ALA); those from an endemic area, but living in the United States for less than one year (En-ALA); and those neither from nor having traveled to an endemic area (N-ALA). We found distinct clinical patterns in patients from different epidemiological groups. Patients with Tr-ALA were a decade older than those from endemic regions, were more likely to be male, and tended to have an insidious onset. Furthermore, compared to patients with En-ALA, those with Tr-ALA were more likely to have hepatomegaly (P < 0.0001) and large abscesses (ALA > 10 cm; P < 0.01). One third of the patients studied had no associated travel history or endemic origin as risk factors. Of these, 63% had a condition consistent with severe immunosuppression, such as infection with the human immunodeficiency virus (HIV), malnourishment with severe hypoalbuminemia, or chronic infection. In patients with N-ALA, the presence of a presumed immunosuppressed state increased significantly, as compared to patients with endemic or travel risk factors for ALA. During the last five years of the study, one third of all patients diagnosed with ALA were HIV positive (including 2 with a new diagnosis of AIDS), many of whom were discovered to be HIV-infected only after presentation with ALA. We conclude that travel to and origin in an endemic area are important risk factors for the development of ALA, and patients in these different epidemiological groups appear to have distinct clinical features. Further, in the absence of recognized risk factors, the development of ALA may suggest an immunocompromised host. PMID:10063397

  11. Epidemiology and clinical features of pediatric psoriasis in tertiary referral psoriasis clinic.

    PubMed

    Kwon, Hyuck Hoon; Na, Sun Jae; Jo, Seoung Jin; Youn, Jai Il

    2012-03-01

    Few epidemiological studies of pediatric patients with moderate to severe psoriasis have been available despite there being no approved systemic therapy for these patients. The aim of the present study was to elucidate clinical features of pediatric psoriasis in a tertiary referral psoriasis clinic. We analyzed the clinical data of 358 patients under 18 years of age referred to our clinic from other private clinics and medical centers. Our data showed a male :female ratio of 1.06:1 and a peak age of onset of 10-11 years. Of the patients, 32.4% had a positive family history. The most prevalent phenotype was plaque type (67.3%) and the mean Psoriasis Area and Severity Index score was 17.2 ± 12.7. The most frequently affected body part was the trunk (69.5%), followed by the legs (65.3%). Exposure to sunlight and summer season improved psoriatic lesions, while stress and winter season aggravated the clinical course. Only 26.0% of patients received systemic therapy or phototherapy during the therapeutic course. Oral acitretin (11.2%) was most frequently used followed by ultraviolet B phototherapy (7.3%). The childhood group (<13 years) showed higher prevalence of guttate and generalized pustular phenotypes and more severe clinical course compared with the adolescent group (13-18 years). In conclusion, our patients showed distinctive features in clinical phenotypes, disease severity and affected body parts compared with previous reports. We also found that clinical application of systemic therapies were limited considering the severe disease state of our patients, demanding a need for more research on treatment of pediatric psoriasis. PMID:22211370

  12. Clinical Features of Celiac Disease: A Prospective Birth Cohort

    PubMed Central

    Lee, Hye-Seung; Kurppa, Kalle; Simell, Ville; Aronsson, Carin Andrén; Jörneus, Ola; Hummel, Michael; Liu, Edwin; Koletzko, Sibylle

    2015-01-01

    OBJECTIVES: To investigate clinical features of celiac disease (CD) and their association with risk factors for CD in a genetic risk birth cohort. METHODS: Children from 6 clinical centers in 4 countries positive for HLA-DR3-DQ2 or DR4-DQ8 were annually screened for tissue transglutaminase antibodies (tTGA) and assessed for symptoms by questionnaires. Associations of symptoms with anthropometrics, known risk factors for CD, tTGA levels, and mucosal lesions in those biopsied were examined. RESULTS: Of 6706 screened children, 914 developed persistent positive tTGA, 406 underwent biopsies, and 340 had CD. Compared with age-matched tTGA-negative children, those with persistent tTGA were more likely to have symptoms at 2 (34% vs 19%, P < .001) and 3 years of age (28% vs 19%, P = .009) but not at 4 years (27% vs 21%, NS). Z-scores for height, weight, and BMI did not differ between groups. In children with persistent tTGA, having ≥1 symptom was associated with family history of CD (odds ratio = 2.59, 95% confidence interval, 1.21–5.57) but not with age, gender, or HLA-DR3-DQ2 homozygosity. At seroconversion, tTGA levels were higher in symptomatic than asymptomatic children (P < .001), in those from CD families (P < .001), and in US participants (P < .001) but not associated with age, gender, or HLA genotype. tTGA levels correlated with severity of mucosal lesions both in symptomatic (r = 0.53, P < .001) and asymptomatic children (r = 0.22, P = .01). CONCLUSIONS: A majority of children detected with persistent tTGA in screenings are asymptomatic and have normal growth by age 4 years. tTGA levels correlate more strongly with severity of mucosal lesions in symptomatic as compared with asymptomatic children. PMID:25733751

  13. Clinical features of coronary artery ectasia in the elderly

    PubMed Central

    Huang, Qiao-Juan; Zhang, Yan; Li, Xiao-Lin; Li, Sha; Guo, Yuan-Lin; Zhu, Cheng-Gang; Xu, Rui-Xia; Jiang, Li-Xin; Chen, Meng-Hua; Li, Jian-Jun

    2014-01-01

    Objective To investigate the incidence, imaging and clinical characteristics in elderly patients with coronary artery ectasia (CAE). Methods A retrospective analysis was conducted on patients with CAE who underwent coronary angiography between January 2006 and December 2012. According to age, the enrolled patients were divided into two groups (elderly group, age ? 65 years; non-elderly group, age < 65 years). The clinical feature, imaging characteristics and the 5-year survival rate of the two groups were compared. Results The prevalence of CAE in elderly patients was 0.33%. Patients in elderly group were found to have significantly higher proportion of female (30.1% vs. 10.1%, P < 0.001), three-vessel disease (60.5% vs. 45.2%, P = 0.003) and localized ectasia (55.0% vs. 40.2%, P = 0.003). In addition, body mass index (20.90 ± 2.71 kg/m2 vs. 22.31 ± 2.98 kg/m2, P < 0.001) and percentage of current smokers (45.0% vs. 64.6%, P < 0.001) were significantly lower in elderly group. Cumulative survival curves demonstrated reduced 5-year cumulative survival at the follow-up in the elderly group compared with the non-elderly group (88.0% vs. 96.0%, P = 0.002). But the 5-year event free survival rate failed to show a significant difference between the two groups (31.0% vs. 35.0%, P = 0.311). Conclusion The prevalence of CAE in elderly patients was 0.33%, which was about 1/3 of the entire numbers of CAE patients. There were significant differences between the elderly and the non-elderly patients with CAE in terms of coronary artery disease risk factors and coronary artery ectatic characteristics. CAE might be associated with increased mortality risk in the elderly. PMID:25278965

  14. Intrathymic cyst: clinical and radiological features in surgically resected cases

    PubMed Central

    Araki, T.; Sholl, L. M.; Gerbaudo, V. H.; Hatabu, H.; Nishino, M.

    2014-01-01

    AIM To investigate radiological and clinical characteristics of pathologically proven cases of intrathymic cysts. MATERIALS AND METHODS The study population consisted of 18 patients (five males, 13 females; median age 56 years) with pathologically confirmed intrathymic cysts who underwent thymectomy and had preoperative chest computed tomography (CT) available for review. The patient demographics, clinical presentation, and preoperative radiological diagnoses were reviewed. CT images were evaluated for shape, contour, location of the cysts and the presence of adjacent thymic tissue, mass effect, calcifications, and septa. The size and CT attenuations of the cysts were measured. RESULTS The most common CT features of intrathymic cysts included oval shape (9/18; 50%), smooth contour (12/18; 67%), midline location (11/18; 61%), the absence of visible adjacent thymic tissue (12/18; 67%), and the absence of calcification (16/18; 89%). The mean longest diameter and the longest perpendicular diameter were 25 mm (range 17–49 mm) and 19 mm (range 10–44 mm), respectively. The mean CT attenuation was 38 HU (range 6–62 HU) on contrast-enhanced CT, and was 45 HU (range 26–64 HU) on unenhanced CT (p=0.41). The CT attenuation was >20 HU in 15 of 18 patients (83%). Preoperative radiological diagnosis included thymoma in 11 patients. CONCLUSION In surgically removed, pathologically proven cases of intrathymic cyst, the CT attenuation was >20 HU in most cases, leading to the preoperative diagnosis of thymoma. Awareness of the spectrum of imaging findings of the entity is essential to improve the diagnostic accuracy and patient management. PMID:24824976

  15. Clinical, Epidemiologic, Histopathologic and Molecular Features of an Unexplained Dermopathy

    PubMed Central

    Pearson, Michele L.; Selby, Joseph V.; Katz, Kenneth A.; Cantrell, Virginia; Braden, Christopher R.; Parise, Monica E.; Paddock, Christopher D.; Lewin-Smith, Michael R.; Kalasinsky, Victor F.; Goldstein, Felicia C.; Hightower, Allen W.; Papier, Arthur; Lewis, Brian; Motipara, Sarita; Eberhard, Mark L.

    2012-01-01

    Background Morgellons is a poorly characterized constellation of symptoms, with the primary manifestations involving the skin. We conducted an investigation of this unexplained dermopathy to characterize the clinical and epidemiologic features and explore potential etiologies. Methods A descriptive study was conducted among persons at least 13 years of age and enrolled in Kaiser Permanente Northern California (KPNC) during 2006–2008. A case was defined as the self-reported emergence of fibers or materials from the skin accompanied by skin lesions and/or disturbing skin sensations. We collected detailed epidemiologic data, performed clinical evaluations and geospatial analyses and analyzed materials collected from participants' skin. Results We identified 115 case-patients. The prevalence was 3.65 (95% CI?=?2.98, 4.40) cases per 100,000 enrollees. There was no clustering of cases within the 13-county KPNC catchment area (p?=?.113). Case-patients had a median age of 52 years (range: 17–93) and were primarily female (77%) and Caucasian (77%). Multi-system complaints were common; 70% reported chronic fatigue and 54% rated their overall health as fair or poor with mean Physical Component Scores and Mental Component Scores of 36.63 (SD?=?12.9) and 35.45 (SD?=?12.89), respectively. Cognitive deficits were detected in 59% of case-patients and 63% had evidence of clinically significant somatic complaints; 50% had drugs detected in hair samples and 78% reported exposure to solvents. Solar elastosis was the most common histopathologic abnormality (51% of biopsies); skin lesions were most consistent with arthropod bites or chronic excoriations. No parasites or mycobacteria were detected. Most materials collected from participants' skin were composed of cellulose, likely of cotton origin. Conclusions This unexplained dermopathy was rare among this population of Northern California residents, but associated with significantly reduced health-related quality of life. No common underlying medical condition or infectious source was identified, similar to more commonly recognized conditions such as delusional infestation. PMID:22295070

  16. Clinical and serologic features of patients with polymyositis or dermatomyositis

    PubMed Central

    Holden, Daniel J.; Brownell, A. Keith W.; Fritzler, Marvin J.

    1985-01-01

    The clinical and serologic features of 36 patients with polymyositis (PM) or dermatomyositis (DM) were observed over a 5-year period. The mean age of the patients at the time of diagnosis was 48.5 years, and 61% were female. According to widely accepted diagnostic criteria 50% had PM (group I), 14% DM (group II), 11% PM or DM associated with malignant disease (group III) and 25% PM or DM associated with a connective tissue disorder (group V). None of the patients had childhood PM or DM associated with vasculitis (group IV). All the patients had muscle weakness, and 94% of the patients tested had an elevated serum level of creatine kinase. The average delay from the onset of symptoms to diagnosis was 14 months overall but only 2.3 months for the DM patients. Of the 30 patients whose serum was tested, 73% had antinuclear antibodies, with antibodies to nuclear ribonucleoprotein being most common in group V patients and antibodies directed against the Jo-1 antigen being restricted to patients with PM alone (group I). ImagesFig. 1 PMID:3872156

  17. Clinical features of serum sickness after Australian snake antivenom.

    PubMed

    Ryan, Nicole M; Downes, Michael A; Isbister, Geoffrey K

    2015-12-15

    Serum sickness is a delayed immune reaction in which the immune system responds to a protein in antiserum as a potentially harmful substance and mounts an IgG-mediated antibody response. A 32 year-old female patient had systemic envenoming following a bite by a red-bellied black snake (Pseudechis porphyriacus). She was treated with Tiger snake antivenom and recovered over 24 h and did not develop myotoxicity. She then presented with local pain, itching and swelling, which was partially treated with antihistamines. Eleven days after the bite she presented again with symptoms of worsening serum sickness including rash on the upper legs, joint and muscle pain in arms, ankles and knees, and nausea. The patient was prescribed five days of prednisone 50 mg/day, antihistamine 10 mg/day and analgesia 1000 mg/day and improved over 2 days. She had no further problems on follow up at 4 months. This case highlights that serum sickness can cause significant effects after the treatment of snake envenoming. It develops 5-14 days after antivenom administration and has characteristic clinical and laboratory features. Severe cases of serum sickness can result in morbidity but it appears to respond well to corticosteroid treatment. PMID:26525657

  18. Varicella zoster virus vasculopathy: clinical features and pathogenesis

    PubMed Central

    Nagel, Maria A.

    2013-01-01

    Varicella zoster virus (VZV) vasculopathy is caused by productive virus infection of cerebral arteries, leading to inflammation, pathological vascular remodeling and ischemic or hemorrhagic stroke. VZV vasculopathy occurs in immunocompetent and immunocompromised individuals and involves both large and small vessels. MRI abnormalities include more deep-seated than superficial lesions, particularly at grey-white matter junctions and lesions may enhance. Diagnosis is challenging since stroke can occur months after zoster rash and in the absence of rash or CSF pleocytosis. The best virological test for diagnosis is detection of anti-VZV IgG antibody in the CSF. Pathological studies of VZV-infected arteries from patients with VZV vasculopathy reveal that the arterial adventitia is the initial site of infection, after which virus spreads transmuraly towards the lumen. Histological and immunohistochemical studies of VZV-infected arteries show a thickened intima, disrupted internal elastic lamina and loss of smooth muscle cells, that likely contribute to weakening of the vessel wall and occlusion. Early in disease, VZV-infected arteries contain CD4+ and CD8+ T cells, macrophages and rare B-cells, in addition to abundant neutrophils in early disease. Importantly, perivascular inflammatory cells underlie the areas of thickened intima, raising the possibility that soluble factors secreted by these cells contribute to arterial remodeling. This review discusses the clinical features of VZV vasculopathy and potential mechanisms of VZV-induced cerebrovascular remodeling and stroke. PMID:23918503

  19. Bowel perforation in intestinal lymphoma: incidence and clinical features

    PubMed Central

    Vaidya, R.; Habermann, T. M.; Donohue, J. H.; Ristow, K. M.; Maurer, M. J.; Macon, W. R.; Colgan, J. P.; Inwards, D. J.; Ansell, S. M.; Porrata, L. F.; Micallef, I. N.; Johnston, P. B.; Markovic, S. N.; Thompson, C. A.; Nowakowski, G. S.; Witzig, T. E.

    2013-01-01

    Background Perforation is a serious life-threatening complication of lymphomas involving the gastrointestinal (GI) tract. Although some perforations occur as the initial presentation of GI lymphoma, others occur after initiation of chemotherapy. To define the location and timing of perforation, a single-center study was carried out of all patients with GI lymphoma. Patients and methods Between 1975 and 2012, 1062 patients were identified with biopsy-proven GI involvement with lymphoma. A retrospective chart review was undertaken to identify patients with gut perforation and to determine their clinicopathologic features. Results Nine percent (92 of 1062) of patients developed a perforation, of which 55% (51 of 92) occurred after chemotherapy. The median day of perforation after initiation of chemotherapy was 46 days (mean, 83 days; range, 2–298) and 44% of perforations occurred within the first 4 weeks of treatment. Diffuse large B-cell lymphoma (DLBCL) was the most common lymphoma associated with perforation (59%, 55 of 92). Compared with indolent B-cell lymphomas, the risk of perforation was higher with aggressive B-cell lymphomas (hazard ratio, HR = 6.31, P < 0.0001) or T-cell/other types (HR = 12.40, P < 0.0001). The small intestine was the most common site of perforation (59%). Conclusion Perforation remains a significant complication of GI lymphomas and is more frequently associated with aggressive than indolent lymphomas. Supported in part by University of Iowa/Mayo Clinic SPORE CA97274 and the Predolin Foundation. PMID:23704194

  20. Clinical features of Eosinophilic esophagitis in children and adults.

    PubMed

    Miehlke, Stephan

    2015-10-01

    Eosinophilic esophagitis (EoE) may affect humans at any age with a predominance for Caucasian males. The clinical manifestation of EoE varies depending on the patient's age. Infants and young children may primarily present with unspecific symptoms such as feeding problems, vomiting and abdominal pain. In adolescents and adults, dysphagia and food impactation become the predominant symptoms. EoE should also be considered in cases of refractory heartburn in both children and adults. Concomitant allergic diseases such as asthma, rhinitis and eczema, as well as peripheral eosinophilia and elevated total serum IgE values are common in pediatric and adult EoE patients. EoE seems to be primarily a food antigen-driven disease, whereas in adults, aeroallergen sensitization may dominate. Endoscopic features of EoE include mucosal edema, furrows, exudates, corrugated rings, strictures, and the so-called crepe paper sign. There appears to be a shift from an inflammatory-predominant phenotype in young childhood towards a more fibrotic phenotype in adolescents and adults. Long-term follow studies suggest that EoE is a chronic and potentially progressive disease causing recurring dysphagia in the majority of cases. The prevalence of strictures significantly increases with the duration of untreated disease, stressing the importance of early diagnosis and consequent treatment of EoE. PMID:26552773

  1. Adenylosuccinase deficiency: possibly underdiagnosed encephalopathy with variable clinical features.

    PubMed

    Köhler, M; Assmann, B; Bräutigam, C; Storm, W; Marie, S; Vincent, M F; Van den Berghe, G; Simmonds, H A; Hoffmann, G F

    1999-01-01

    Adenylosuccinase deficiency is an autosomal recessive inherited defect of purine synthesis. In enzyme deficient patients, two normally undetectable compounds, succinylaminoimidazole carboxamide riboside and succinyladenosine, accumulate in urine, cerebrospinal fluid and, to a minor extent, in plasma. Analysing 150 highly selected urine specimens from patients with unidentified neurogenerative disorders we discovered the first two German cases of adenylosuccinase deficiency. The deficiency causes moderate to severe mental retardation, often accompanied by epileptic seizures and/or autistic features, and is occasionally associated with growth retardation and muscular hypotonia. Of the two German cases we present here, one patient fits into the clinical picture outlined by previous reports. The other patient, however, shows a pattern of symptoms so far undescribed: severe early infantile epileptic encephalopathy with reduced myelination. On mutation analysis this patient is the first to reveal a 39 base pair deletion in the adenylosuccinase gene in contrast to the point mutations detected in previous cases. Adenylosuccinase deficiency may be an underdiagnosed metabolic disorder with variable expression. This should be taken into consideration in patients with unclassified neurological conditions. PMID:10727185

  2. Etiological and Clinical Features of Childhood Psychotic Symptoms

    PubMed Central

    Polanczyk, Guilherme; Moffitt, Terrie E.; Arseneault, Louise; Cannon, Mary; Ambler, Antony; Keefe, Richard S. E.; Houts, Renate; Odgers, Candice L.; Caspi, Avshalom

    2013-01-01

    Context It has been reported that childhood psychotic symptoms are common in the general population and may signal neurodevelopmental processes that lead to schizophrenia. However, it is not clear whether these symptoms are associated with the same extensive risk factors established for adult schizophrenia. Objective To examine the construct validity of children’s self-reported psychotic symptoms by testing whether these symptoms share the risk factors and clinical features of adult schizophrenia. Design Prospective, longitudinal cohort study of a nationally representative birth cohort in Great Britain. Participants A total of 2232 twelve-year-old children followed up since age 5 years (retention, 96%). Main Outcome Measure Children’s self-reported hallucinations and delusions. Results Children’s psychotic symptoms are familial and heritable and are associated with social risk factors (eg, urbanicity); cognitive impairments at age 5; home-rearing risk factors (eg, maternal expressed emotion); behavioral, emotional, and educational problems at age 5; and comorbid conditions, including self-harm. Conclusions The results provide a comprehensive picture of the construct validity of children’s self-reported psychotic symptoms. For researchers, the findings indicate that children who have psychotic symptoms can be recruited for neuroscience research to determine the pathogenesis of schizophrenia. For clinicians, the findings indicate that psychotic symptoms in childhood are often a marker of an impaired developmental process and should be actively assessed. PMID:20368509

  3. Myhre syndrome: Clinical features and restrictive cardiopulmonary complications.

    PubMed

    Starr, Lois J; Grange, Dorothy K; Delaney, Jeffrey W; Yetman, Anji T; Hammel, James M; Sanmann, Jennifer N; Perry, Deborah A; Schaefer, G Bradley; Olney, Ann Haskins

    2015-12-01

    Myhre syndrome, a connective tissue disorder characterized by deafness, restricted joint movement, compact body habitus, and distinctive craniofacial and skeletal features, is caused by heterozygous mutations in SMAD4. Cardiac manifestations reported to date have included patent ductus arteriosus, septal defects, aortic coarctation and pericarditis. We present five previously unreported patients with Myhre syndrome. Despite varied clinical phenotypes all had significant cardiac and/or pulmonary pathology and abnormal wound healing. Included herein is the first report of cardiac transplantation in patients with Myhre syndrome. A progressive and markedly abnormal fibroproliferative response to surgical intervention is a newly delineated complication that occurred in all patients and contributes to our understanding of the natural history of this disorder. We recommend routine cardiopulmonary surveillance for patients with Myhre syndrome. Surgical intervention should be approached with extreme caution and with as little invasion as possible as the propensity to develop fibrosis/scar tissue is dramatic and can cause significant morbidity and mortality. © 2015 Wiley Periodicals, Inc. PMID:26420300

  4. Clinical manifestations and prognostic features of acute methamphetamine intoxication.

    PubMed

    Lan, K C; Lin, Y F; Yu, F C; Lin, C S; Chu, P

    1998-08-01

    The prevalence of amphetamine abuse and the frequency of emergency department visits for amphetamine intoxication have increased dramatically worldwide. In this study, we retrospectively investigated the relationship between the prognostic features and clinical manifestations among patients admitted to the emergency department of a university hospital for acute methamphetamine intoxication during a 6-year period. Data collected included gender, age, route of abuse, time between drug exposure and arrival at the emergency department, estimated dose, signs and symptoms, laboratory values, and complications. Emergency therapy and cooling procedures were also recorded. After excluding 26 patients with multiple-drug intoxication, 18 patients (male-to-female ratio, 11:7) were include in the analysis. The mean age was 25.6 years. Thirteen patients survived and five died. Patients who died often presented with coma (80% vs 0%, p = 0.002), shock (60% vs 8%, p = 0.044), convulsions (100% vs 23%, p = 0.007), oliguria (80% vs 0%, p = 0.002), and high body temperature (41.4 +/- 0.5 degrees C vs 39.4 +/- 2.1 degrees C, p = 0.005). Furthermore, patients who died had significantly higher concentrations of blood urea nitrogen (8.7 +/- 2.1 vs 5.6 +/- 2.0 mmol/L, p = 0.01) and serum creatinine (212 +/- 71 vs 115 +/- 27 mumol/L, p = 0.033), and lower values of arterial pH (7.12 +/- 0.12 vs 7.34 +/- 0.10, p = 0.03), than those who survived. In the fatality group, the most common complication was rhabdomyolysis with acute renal failure (5 of 5); multiple organ failure resembling that from heatstroke was the leading cause of death from acute methamphetamine intoxication. In conclusion, the adverse prognostic features in patients with acute methamphetamine intoxication include coma, shock, convulsion, oliguria, and high core temperature. Acidosis, volume depletion, and ischemic renal damage were potential risk factors for development of acute renal failure in these patients. PMID:9747062

  5. Potential 2001 Landing Sites in Melas Chasma, Mars

    NASA Technical Reports Server (NTRS)

    Weitz, C. M.; Lucchitta, B. K.; Chapman, M. G.

    1999-01-01

    We have selected four areas in Valles Marineris as potential landing sites for the 2001 mission. After 20 years of analyses, the formation of the Valles Marineris system of troughs and its associated deposits still has not been sufficiently explained. They could have formed by collapse, as tectonic grabens, or in two stages involving ancestral collapse basins later cut by grabens. Understanding all aspects of the Valles Marineris, in particular the interior layered deposits, would significantly contribute to deciphering the internal and external history of Mars. The deposits have been postulated to be remnants of wall rock, lacustrine deposits, mass wasting deposits, eolian deposits, carbonate deposits, or volcanic deposits. Because an understanding of the formation of Valles Marineris and its interior deposits is so important to deciphering the history of Mars, we have proposed landing sites for the 2001 mission on flat shelves of interior deposits in Melas Chasma.

  6. Clinical and genetic features of anoctaminopathy in Saudi Arabia

    PubMed Central

    Bohlega, Saeed; Monies, Dorothy M.; Abulaban, Ahmad A.; Murad, Hatem N.; Alhindi, Hindi N.; Meyer, Brian F.

    2015-01-01

    Objectives: Characterization of the phenotypic, pathological, radiological, and genetic findings in 2 Saudi Arabian families with anoctaminopathies, and limb girdle muscular dystrophy type 2L (LGMD2L). Methods: Over a 2-year period from December 2010 to January 2013, the clinical presentations were analyzed and all genes responsible for limb girdle muscular dystrophy (LGMD) were screened in families seen at King Faisal Specialist Hospital and Research Centre, a tertiary care hospital in Riyadh, Saudi Arabia. Out of 66 families with LGMD, we identified 2 families (3.1%) with anoctaminopathy, ANO5 muscular dystrophy. Results: In the first case, a man presented with asymmetrical calves’ muscles weakness and atrophy, which was first noted at age 39. The creatinine kinase (CK) level was >20x normal, muscle biopsy showed necrotizing myopathic changes, and an MRI of the legs showed fatty-tissue replacement to muscle tissue with volume loss involving the gastrocnemius and soleus muscles in an asymmetrical fashion. Minimal disease progression was noted over 18 years of follow up. Exercise induced recurrent rhabdomyolysis was noted over the last 2 years. A novel ANO5 gene mutation (Arg58Trp) was found. In the second family, a male presented at the age of 41 with asymptomatic hyperCkemia and intermittent dyspnea. Over 10 years follow up, he became disabled with muscle cramps, rhabdomyolysis, myoglobinurea, and difficulty ambulating. Muscle biopsy showed necrotizing myopathy and perivascular and interstitial amyloid deposit in skeletal muscle. A homozygous deletion of 11.9 Kb encompassing exon 13 to exon 17 was found in the ANO5 gene. Full cardiac investigations were normal in both patients. Conclusion: The prevalence of LGMD2L is approximately 3.1% in a Saudi Arabian native LGMD cohort. Slowly progressive, late onset, and asymmetrical weakness was the salient features in these 2 families. The genetic findings were novel and will add to the spectrum of ANO5 known mutations. PMID:25864073

  7. Bilateral Vitreous Hemorrhage in Children: Clinical Features and Outcomes

    PubMed Central

    Sudhalkar, Aditya; Chhablani, Jay; Rani, Padmaja Kumari; Jalali, Subhadra; Balakrishnan, Divya; Tyagi, Mudit

    2015-01-01

    Purpose: To determine the etiology, clinical features and outcomes of bilateral vitreous hemorrhage (VH) in children. Methods: This retrospective chart review was performed on patients with bilateral VH under the age of 18 at a tertiary eye care center in India. Data included demographics, details of history and ocular examination, reports of investigations, surgeries or other interventions performed, and final anatomical and visual outcomes. Patients were divided into two groups i.e., traumatic and non-traumatic (spontaneous). Results: The traumatic group was comprised of 37 patients including 27 male and 10 female subjects with mean age of 13.47 ± 5.31 years, the most common complaint was decreased vision (96.45%) and the most prevalent etiology was firecracker injury in 16 (43.2%) patients. Mean baseline visual acuity (VA) was 2.34 ± 1.31 logMAR which was significantly improved to 1.08 ± 0.23 logMAR (P = 0.042). The mean number of surgeries was 2.72 ± 1.43 in the traumatic VH and mean follow up period was 23.14 ± 6.54 months. The spontaneous group included 48 subjects comprised of 27 male and 21 female cases with mean age of 14.48 ± 2.03 years. The most common cause was vasculitis in 21 (43.75%) subjects including four patients with tuberculosis. Mean baseline VA was 1.97 ± 1.13 logMAR which showed a significant improvement to 0.82 ± 0.24 logMAR (P = 0.012) after mean follow up of 34.2 ± 11.2 months. Eleven patients required at least one major surgery. Conclusion: Vasculitis was the most common cause of spontaneous bilateral VH; traumatic VH most prevalently occurred due to firecracker injury. Final VA was better in the spontaneous group. PMID:26425315

  8. Clinical features and genotype of adenine phosphoribosyltransferase deficiency in iceland.

    PubMed

    Edvardsson, V; Palsson, R; Olafsson, I; Hjaltadottir, G; Laxdal, T

    2001-09-01

    The purpose of this study was to characterize the clinical, diagnostic, and prognostic features of adenine phosphoribosyltransferase (APRT) deficiency in Icelandic patients, as well as determine their genotype. Medical records of all known patients in Iceland were reviewed. Urinalysis and polymerase chain reaction-based DNA mutation analysis were performed in all patients, siblings, and living parents of index cases. Twenty-three individuals homozygous for type I APRT deficiency were identified in 16 families from 1983 to 1998. There were 12 males and 11 females, and the median age at diagnosis was 37 years (range, 0.5 to 62 years). Seventeen patients were index cases and 6 patients were diagnosed during screening of first-degree relatives. Eighteen patients had symptomatic disease, 15 of whom experienced nephrolithiasis; 4 patients had mild to moderate renal insufficiency, 1 patient had advanced renal failure, and 1 patient died of uremic complications. Six patients experienced recurrent urinary tract infections and 3 infants had a history of reddish-brown diaper stains. Five patients were asymptomatic; 3 of these patients were diagnosed during routine urinalysis and 2 patients were identified during family screening. Urinary 2,8-dihydroxyadenine crystals were detected in all cases, except for the patient who died of end-stage renal failure. All 23 patients were homozygous for the same mutation (D65V) in the APRT gene. Allopurinol therapy successfully prevented further stone formation and significantly improved renal function in most patients with renal insufficiency. Our results suggest that APRT deficiency may be more common than previously recognized and can lead to severe renal failure if left untreated. PMID:11532677

  9. Fecal incontinence in men: Causes and clinical and manometric features

    PubMed Central

    Muñoz-Yagüe, Teresa; Solís-Muñoz, Pablo; Ciriza de los Ríos, Constanza; Muñoz-Garrido, Francisco; Vara, Jesús; Solís-Herruzo, José Antonio

    2014-01-01

    AIM: To determine the causes and characteristics of fecal incontinence in men and to compare these features with those presented by a group of women with the same problem. METHODS: We analyzed the medical history, clinical and manometric data from 119 men with fecal incontinence studied in our unit and compared these data with those obtained from 645 women studied for the same problem. Response to treatment was evaluated after 6 mo of follow-up. RESULTS: Fifteen percent of patients studied in our unit for fecal incontinence were male. Men took longer than women before asking for medical help. Ano-rectal surgery was the most common risk factor for men related to fecal incontinence. Chronic diarrhea was present in more than 40% of patients in both groups. Decreased resting and external anal sphincter pressures were more frequent in women. No significant differences existed between the sexes regarding rectal sensitivity and recto-anal inhibitory reflex. In 17.8% of men, all presenting soiling, manometric findings did not justify fecal incontinence. Response to treatment was good in both groups, as 80.4% of patients improved and fecal incontinence disappeared in 13.2% of them. CONCLUSION: In our series, it was common that men waited longer in seeking medical help for fecal incontinence. Ano-rectal surgery was the major cause of this problem. Chronic diarrhea was a predisposing factor in both sexes. Manometric differences between groups were limited to an increased frequency of hypotony of the external anal sphincter in women. Fecal incontinence was controllable in most patients. PMID:24976729

  10. [Infantile encephalopathy associated with the MELAS A3243G mutation. Case report].

    PubMed

    Guevara-Campos, José; Gonzalez-Guevara, Lucía; Parada, Yulimar; Urbáez-Cano, José

    2007-06-01

    Mitochondrial encephalopathies are a group of diseases that have as their pathogenic basis an alteration of the mitochondrial DNA (mtDNA). The MELAS phenotype (mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes) has been related to mutation A3243G in approximately 80% of the cases reported. MERRF (epilepsy myoclonus with ragged red fibers) has been related to mutation A8344G and A8566G of tRNA Lys. We report the case of a 7 months-old female with early clinical signs of encephalopathy associated to the A3243G mutation. Laboratory tests showed lactic acidosis and the EEG pattern was compatible with an encephalopathic process. The infant was treated with ACTH during one month, with clinical and electroencephalographic improvements. Currently, she is receiving treatment with B-vitamins, L-Carnitine and urinary alkalizing agents. It is concluded that an analysis of mtDNA must be made in infants who present convulsions, delay in their psychomotor development, lactic acidosis and an EEG pattern compatible with an encephalopathy, to rule out a mitochondrial disease. PMID:17598646

  11. Spectral Identification and Analyses of Hydrous Mineral Deposits: Implications for the Aqueous History of Aram Chaos and Melas Chasma, Mars

    NASA Astrophysics Data System (ADS)

    Liu, Yang

    Orbital remote sensing data acquired from the Mars Express OMEGA and MRO CRISM instruments, in conjunction with other datasets, are used to perform detailed spectral and stratigraphic analyses with the goals of better understanding the mineralogy and aqueous history of deposits in Aram Chaos and south and southwest Melas Chasma on Mars. The Discrete Ordinate Radiative Transfer (DISORT) model is used to retrieve atmospherically and thermally corrected Lambert albedos from OMEGA I/F data for Aram Chaos and atmospherically corrected single scattering albedos from CRISM I/F data for Melas Chasma. Spectral analyses focus on detection, identification, and mapping of hydrated and/or hydroxylated alteration minerals in the visible-near to thermal infrared region (0.4-4.0 mum) for Aram Chaos and near infrared region (1.0-2.5 mum) for Melas Chasma. In Aram Chaos, based on detailed reduction of OMEGA spectral data, focusing on use of DISORT-based radiative transfer procedures to model solar reflected and thermally-dominating spectral regions, together with stability and formation pathway considerations, we conclude that the spectral features in Aram Chaos are dominated by the presence of nanophase iron oxides, schwertmannite, and starkeyite. This mineral assemblage, together with gray, crystalline hematite previously detected from TES data [Glotch and Christensen, 2005], indicate that Aram Chaos has experienced iron oxidation and evaporation of iron-, magnesium-, and sulfur-rich fluids during periods of rising groundwater. In the southern wall and nearby floor of Melas Chasma, a sequence of interbedded poly- and monohydrated sulfate layers associated with the interior layered deposits (ILDs) was identified using the data from CRISM and HiRISE imageries. The interbedded layers could have formed by a cyclic deposition of poly- and monohydrated sulfates during evaporation depending on brine salinity and variable water-to-rock ratios. A distinct jarosite-bearing unit was also identified in the topographically higher units near the hydrated sulfate deposits. The study area has apparently been through a period of acidic conditions resulting from an increase of volcanic volatile release or redox processes during episodes of groundwater upwelling, during which jarosite has formed by the evaporation of acid fluids that have altered basaltic materials, or through iron oxidation of subsurface fluids and subsequent precipitation. To the southwest portion of Melas Chasma basin, hydrated sulfates and Fe/Mg smectites were both identified using CRISM hyperspectral data. Specifically the hydrated sulfate and Fe/Mg smectite deposits are interbedded and deposited at the bottom of the stratigraphic column, unconformably overlaid by a thick monohydrated sulfate unit. Geochemical modeling of coupled basalt weathering and fluid evaporation predicts that co-formation of smectites and sulfate evaporites in similar quantities, as observed in the interbedded smectite-sulfate sequence, is chemically plausible. The interbedded hydrated sulfate and Fe/Mg smetite deposits formed by the processes of repeated mechanical transportation of clastics by fluvial events, alteration by upwelling groundwater, and evaporation of the residual fluids.

  12. Clinical features of paediatric pulmonary hypertension: a registry study

    PubMed Central

    Berger, Rolf M F; Beghetti, Maurice; Humpl, Tilman; Raskob, Gary E; Ivy, D Dunbar; Jing, Zhi-Cheng; Bonnet, Damien; Schulze-Neick, Ingram; Barst, Robyn J

    2012-01-01

    Summary Background Paediatric pulmonary hypertension, is an important cause of morbidity and mortality, and is insufficiently characterised in children. The Tracking Outcomes and Practice in Pediatric Pulmonary Hypertension (TOPP) registry is a global, prospective study designed to provide information about demographics, treatment, and outcomes in paediatric pulmonary hypertension. Methods Consecutive patients aged 18 years or younger at diagnosis with pulmonary hypertension and increased pulmonary vascular resistance were enrolled in TOPP at 31 centres in 19 countries from Jan 31, 2008, to Feb 15, 2010. Patient and disease characteristics, including age at diagnosis and at enrolment, sex, ethnicity, presenting symptoms, pulmonary hypertension classification, comorbid disorders, medical and family history, haemodynamic indices, and functional class were recorded. Follow-up was decided by the patients’ physicians according to the individual’s health-care needs. Findings 362 of 456 consecutive patients had confirmed pulmonary hypertension (defined as mean pulmonary artery pressure ?25 mm Hg, pulmonary capillary wedge pressure ?12 mm Hg, and pulmonary vascular resistance index ?3 WU/m32). 317 (88%) patients had pulmonary arterial hypertension (PAH), which was idiopathic [IPAH] or familial [FPAH] in 182 (57%), and associated with other disorders in 135 (43%), of which 115 (85%) cases were associated with congenital heart disease. 42 patients (12%) had pulmonary hypertension associated with respiratory disease or hypoxaemia, with bronchopulmonary dysplasia most frequent. Finally, only three patients had either chronic thromboembolic pulmonary hypertension or miscellaneous causes of pulmonary hypertension. Chromosomal anomalies, mainly trisomy 21, were reported in 47 (13%) of patients with confirmed disease. Median age at diagnosis was 7 years (IQR 3–12); 59% (268 of 456) were female. Although dyspnoea and fatigue were the most frequent symptoms, syncope occurred in 31% (57 of 182) of patients with IPAH or FPAH and in 18% (eight of 45) of those with repaired congenital heart disease; no children with unrepaired congenital systemic-to-pulmonary shunts had syncope. Despite severe pulmonary hypertension, functional class was I or II in 230 of 362 (64%) patients, which is consistent with preserved right-heart function. Interpretation TOPP identifies important clinical features specific to the care of paediatric pulmonary hypertension, which draw attention to the need for paediatric data rather than extrapolation from adult studies. Funding Actelion Pharmaceuticals. PMID:22240409

  13. Clinical and molecular features of human rhinovirus C

    PubMed Central

    Bochkov, Yury A.; Gern, James E.

    2012-01-01

    A newly discovered group of human rhinoviruses (HRVs) has been classified as the HRV-C species based on distinct genomic features. HRV-Cs circulate worldwide, and are important causes of upper and lower respiratory illnesses. Methods to culture and produce these viruses have recently been developed, and should enable identification of unique features of HRV-C replication and biology. PMID:22285901

  14. Managing the Earth’s Biggest Mass Gathering Event and WASH Conditions: Maha Kumbh Mela (India)

    PubMed Central

    Baranwal, Annu; Anand, Ankit; Singh, Ravikant; Deka, Mridul; Paul, Abhishek; Borgohain, Sunny; Roy, Nobhojit

    2015-01-01

    Background: Mass gatherings including a large number of people makes the planning and management of the event a difficult task. Kumbh Mela is one such, internationally famous religious mass gathering. It creates the substantial challenge of creating a temporary city in which millions of people can stay for a defined period of time. The arrangements need to allow this very large number of people to reside with proper human waste disposal, medical services, adequate supplies of food and clean water, transportation etc. Methods: We report a case study of Maha Kumbh, 2013 which focuses on the management and planning that went into the preparation of Kumbh Mela and understanding its water, sanitation and hygiene conditions. It was an observational cross-sectional study, the field work was done for 13 days, from 21 January to 2 February 2013. Results: Our findings suggest that the Mela committee and all other agencies involved in Mela management proved to be successful in supervising the event and making it convenient, efficient and safe. Health care services and water sanitation and hygiene conditions were found to be satisfactory. BhuleBhatke Kendra (Center for helping people who got separated from their families) had the major task of finding missing people and helping them to meet their families. Some of the shortfalls identified were that drainage was a major problem and some fire incidents were reported. Therefore, improvement in drainage facilities and reduction in fire incidents are essential to making Mela cleaner and safer. The number of persons per toilet was high and there were no separate toilets for males and females. Special facilities and separate toilets for men and women will improve their stay in Mela. Conclusion: Inculcation of modern methods and technologies are likely to help in supporting crowd management and improving water, sanitation and hygiene conditions in the continuously expanding KumbhMela, in the coming years. PMID:25932345

  15. [Higher Brain Dysfunction in Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis and Stroke-Like Episodes (MELAS)].

    PubMed

    Ichikawa, Hiroo

    2016-02-01

    Stroke-like episodes are one of the cardinal features of mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes (MELAS), and occur in 84-99% of the patients. The affected areas detected on neuroimaging do not have classical vascular distribution, and involve predominantly the temporal, parietal and occipital lobes. Thus, the neurological symptoms including higher brain dysfunction correlate with this topographical distribution. In association with the occipital lobe involvement, the most frequent symptom is cortical blindness. Other symptoms have been occasionally reported in case reports: visual agnosia, prosopagnosia, cortical deafness, auditory agnosia, topographical disorientation, various types of aphasia, hemispatial neglect, and so on. On the other hand, cognitive decline associated with more diffuse brain impairment rather than with focal stroke-like lesions has been postulated. This condition is also known as mitochondrial dementia. Domains of cognitive dysfunction include abstract reasoning, verbal memory, visual memory, language (naming and fluency), executive or constructive functions, attention, and visuospatial function. Cognitive functions and intellectual abilities may decline from initially minimal cognitive impairment to dementia. To date, the neuropsychological and neurologic impairment has been reported to be associated with cerebral lactic acidosis as estimated by ventricular spectroscopic lactate levels. PMID:26873235

  16. Some clinical features of liver cell failure: an appraisal of their causes.

    PubMed Central

    Read, A E

    1978-01-01

    The mechanisms underlying the cause of the major clinical features of liver cell failure are reviewed. These include jaundice, fluid retention, hepatic encephalopathy, bleeding tendency, etc. PMID:355067

  17. Newly described clinical and immunopathological feature of dermatitis herpetiformis.

    PubMed

    Bonciolini, Veronica; Bonciani, Diletta; Verdelli, Alice; D'Errico, Antonietta; Antiga, Emiliano; Fabbri, Paolo; Caproni, Marzia

    2012-01-01

    Dermatitis herpetiformis (DH) is an inflammatory cutaneous disease with typical histopathological and immunopathological findings clinically characterized by intensely pruritic polymorphic lesions with a chronic-relapsing course. In addition to classic clinical manifestations of DH, atypical variants are more and more frequently reported and histological and immunological are added to them, whereas the impact on quality of life of patients with DH is increasingly important to a certain diagnosis. The aim of this paper is to describe all the possible clinical, histological, and immunological variants of DH in order to facilitate the diagnosis of a rare disease and, therefore, little known. PMID:22701503

  18. Newly Described Clinical and Immunopathological Feature of Dermatitis Herpetiformis

    PubMed Central

    Bonciolini, Veronica; Bonciani, Diletta; Verdelli, Alice; D'Errico, Antonietta; Antiga, Emiliano; Fabbri, Paolo; Caproni, Marzia

    2012-01-01

    Dermatitis herpetiformis (DH) is an inflammatory cutaneous disease with typical histopathological and immunopathological findings clinically characterized by intensely pruritic polymorphic lesions with a chronic-relapsing course. In addition to classic clinical manifestations of DH, atypical variants are more and more frequently reported and histological and immunological are added to them, whereas the impact on quality of life of patients with DH is increasingly important to a certain diagnosis. The aim of this paper is to describe all the possible clinical, histological, and immunological variants of DH in order to facilitate the diagnosis of a rare disease and, therefore, little known. PMID:22701503

  19. Meningococcal disease in childhood: epidemiology, clinical features and prevention.

    PubMed

    Bosis, S; Mayer, A; Esposito, S

    2015-01-01

    Invasive meningococcal disease (IMD) represents a public health problem and a leading cause of morbidity and mortality worldwide. IMD can occur as an endemic disease with sporadic cases or epidemics with outbreaks. Neisseria meningitis strains are divided into 13 serogroups, but only five (A, B, C, W-135, and Y) are responsible for most IMD across the world. All age groups are at risk for IMD, but infants and adolescents are particularly vulnerable. The most common clinical manifestations of IMD are meningitis and septicemia, although in some cases both clinical pictures are present. The clinical pattern can differ according to age; in young children, the clinical manifestations may be more insidious and the diagnosis may be more difficult compared to older children or adolescents. Death occurs in 6-10% of cases and sequelae in 4.3-11.2% of cases. Early recognition of children with meningococcal infection is important in order to initiate systemic antibiotic therapy, although vaccination remains the best strategy to control meningococcal disease. Recently, different meningococcal vaccines have been introduced worldwide, resulting in a reduction in the overall burden of the disease. The goal of the next few years should be to increase vaccination coverage against meningococcal diseases, continue to monitor IMD and develop a unique vaccine able to cover all of the main meningococcal strains. PMID:26788732

  20. Key Clinical Features to Identify Girls with "CDKL5" Mutations

    ERIC Educational Resources Information Center

    Bahi-Buisson, Nadia; Nectoux, Juliette; Rosas-Vargas, Haydee; Milh, Mathieu; Boddaert, Nathalie; Girard, Benoit; Cances, Claude; Ville, Dorothee; Afenjar, Alexandra; Rio, Marlene; Heron, Delphine; Morel, Marie Ange N'Guyen; Arzimanoglou, Alexis; Philippe, Christophe; Jonveaux, Philippe; Chelly, Jamel; Bienvenu, Thierry

    2008-01-01

    Mutations in the human X-linked cyclin-dependent kinase-like 5 ("CDKL5") gene have been shown to cause infantile spasms as well as Rett syndrome (RTT)-like phenotype. To date, less than 25 different mutations have been reported. So far, there are still little data on the key clinical diagnosis criteria and on the natural history of…

  1. Key Clinical Features to Identify Girls with "CDKL5" Mutations

    ERIC Educational Resources Information Center

    Bahi-Buisson, Nadia; Nectoux, Juliette; Rosas-Vargas, Haydee; Milh, Mathieu; Boddaert, Nathalie; Girard, Benoit; Cances, Claude; Ville, Dorothee; Afenjar, Alexandra; Rio, Marlene; Heron, Delphine; Morel, Marie Ange N'Guyen; Arzimanoglou, Alexis; Philippe, Christophe; Jonveaux, Philippe; Chelly, Jamel; Bienvenu, Thierry

    2008-01-01

    Mutations in the human X-linked cyclin-dependent kinase-like 5 ("CDKL5") gene have been shown to cause infantile spasms as well as Rett syndrome (RTT)-like phenotype. To date, less than 25 different mutations have been reported. So far, there are still little data on the key clinical diagnosis criteria and on the natural history of…

  2. The ritual abuse of children: clinical features and diagnostic reasoning.

    PubMed

    Nurcombe, B; Unützer, J

    1991-03-01

    A case of alleged ritual sexual abuse is presented. Clinical recognition and diagnostic reasoning are discussed. After a brief account of modern satanism, it is concluded that, although the evidence for the occurrence of ritual abuse is sketchy, a high index of suspicion is appropriate. PMID:1789821

  3. Pine nut allergy: clinical features and major allergens characterization

    Technology Transfer Automated Retrieval System (TEKTRAN)

    Pine nuts, the seeds of pine trees, are widely used for human consumption in Europe, America, and Asia. The aims of this study were to evaluate IgE-mediated hypersensitivity to pine nut in a large number of patients with details of clinical reactions, and to characterize major pine nut allergens. Th...

  4. Clinical features and multidisciplinary approaches to dementia care

    PubMed Central

    Grand, Jacob HG; Caspar, Sienna; MacDonald, Stuart WS

    2011-01-01

    Dementia is a clinical syndrome of widespread progressive deterioration of cognitive abilities and normal daily functioning. These cognitive and behavioral impairments pose considerable challenges to individuals with dementia, along with their family members and caregivers. Four primary dementia classifications have been defined according to clinical and research criteria: 1) Alzheimer’s disease; 2) vascular dementias; 3) frontotemporal dementias; and 4) dementia with Lewy bodies/Parkinson’s disease dementia. The cumulative efforts of multidisciplinary healthcare teams have advanced our understanding of dementia beyond basic descriptions, towards a more complete elucidation of risk factors, clinical symptoms, and neuropathological correlates. The characterization of disease subtypes has facilitated targeted management strategies, advanced treatments, and symptomatic care for individuals affected by dementia. This review briefly summarizes the current state of knowledge and directions of dementia research and clinical practice. We provide a description of the risk factors, clinical presentation, and differential diagnosis of dementia. A summary of multidisciplinary team approaches to dementia care is outlined, including management strategies for the treatment of cognitive impairments, functional deficits, and behavioral and psychological symptoms of dementia. The needs of individuals with dementia are extensive, often requiring care beyond traditional bounds of medical practice, including pharmacologic and non-pharmacologic management interventions. Finally, advanced research on the early prodromal phase of dementia is reviewed, with a focus on change-point models, trajectories of cognitive change, and threshold models of pathological burden. Future research goals are outlined, with a call to action for social policy initiatives that promote preventive lifestyle behaviors, and healthcare programs that will support the growing number of individuals affected by dementia. PMID:21655340

  5. Adult pilocytic astrocytomas: clinical features and molecular analysis

    PubMed Central

    Theeler, Brett J.; Ellezam, Benjamin; Sadighi, Zsila S.; Mehta, Vidya; Tran, M. Diep; Adesina, Adekunle M.; Bruner, Janet M.; Puduvalli, Vinay K.

    2014-01-01

    Background Adult pilocytic astrocytomas (PAs) are rare and have an aggressive clinical course compared with pediatric patients. Constitutive Ras/RAF/MAPK signaling appears to be an important oncogenic event in sporadic PA. We evaluated clinical data and molecular profiles of adult PAs at our institution. Methods We identified 127 adult PAs in our institutional database. Cases with available tissue were tested for BRAF-KIAA1549 fusion/duplication (B-K fusion) by fluorescence in situ hybridization and submitted for mutation profiling using the Sequenom mutation profiling panel. Subgroup analyses were performed based on clinical and molecular data. Results The majority of adult PAs are supratentorial. Twenty-two percent of cases had an initial pathologic diagnosis discordant with the diagnosis made at our institution. Recurrence was seen in 42% of cases, and 13% of patients died during follow-up. Adjuvant radiotherapy following surgical resection was associated with a statistically significant decrease in progression-free survival (P = .004). B-K fusion was identified in 20% (9 of 45) of patients but was not associated with outcome. No BRAF V600E mutations (0 of 40 tested) were found. Conclusion This was the largest single institution series of adult PA. A significant proportion of adult PAs follow an aggressive clinical course. Our results support a period of observation following biopsy or surgical resection. B-K fusion in adult PA does not influence outcome, and BRAF V600E mutation appears to be a very rare event. Further study of tumor biology and optimal treatment is needed, given a more aggressive clinical behavior. PMID:24470550

  6. Extracting BI-RADS Features from Portuguese Clinical Texts.

    PubMed

    Nassif, Houssam; Cunha, Filipe; Moreira, Inês C; Cruz-Correia, Ricardo; Sousa, Eliana; Page, David; Burnside, Elizabeth; Dutra, Inês

    2012-01-01

    In this work we build the first BI-RADS parser for Portuguese free texts, modeled after existing approaches to extract BI-RADS features from English medical records. Our concept finder uses a semantic grammar based on the BIRADS lexicon and on iterative transferred expert knowledge. We compare the performance of our algorithm to manual annotation by a specialist in mammography. Our results show that our parser's performance is comparable to the manual method. PMID:23797461

  7. Extracting BI-RADS Features from Portuguese Clinical Texts

    PubMed Central

    Nassif, Houssam; Cunha, Filipe; Moreira, Inês C.; Cruz-Correia, Ricardo; Sousa, Eliana; Page, David; Burnside, Elizabeth; Dutra, Inês

    2013-01-01

    In this work we build the first BI-RADS parser for Portuguese free texts, modeled after existing approaches to extract BI-RADS features from English medical records. Our concept finder uses a semantic grammar based on the BIRADS lexicon and on iterative transferred expert knowledge. We compare the performance of our algorithm to manual annotation by a specialist in mammography. Our results show that our parser’s performance is comparable to the manual method. PMID:23797461

  8. Radiological and clinical features of peripheral keratocystic odontogenic tumor

    PubMed Central

    Zhu, Ling; Yang, Jie; Zheng, Jia-Wei

    2014-01-01

    Peripheral Keratocystic odontogenic tumor (PKCOT) is rare and has not been reported with imaging findings. Aim: The aim of this study was to explore CT and MR imaging characteristics of two PKCOTs in lateral facial deep region (LFDR), and to present a review of the literature regarding their anatomic locations and characteristics of epidemiology and Radiology. Methods and material: Eighteen PKCOTs, sixteen from the previous literatures and two new cases of the authors, were reviewed. Fifteen of them had original sites in the gingival, one in buccal space and two in LFDR. CT imaging features were based on one PKCOT in the buccal space and two in LFDR. MR imaging features on one PKCOT in LFDR, and conventional radiographic characteristics on eight PKCOTs were analyzed. Results: The subjects’ ages ranged from 37 to 81 years, with a mean of 54.7 years. The male and female ratio was 1:1.14, with no predilection for either gender. Buccal space (6%) and LFDR (11%) were relatively rare original sites to PKCOTs, compared to gingival (83%). PKCOTs were clearly depicted on CT and MR imaging as they had cystic changes. Contents of the cysts were further analyzed by using different series of MRI. No radiological features were found on radiographs except one subject with minimal bone resorption in the alveolar crest. Conclusions: LFDR is rare original site for PKCOT. PKCOT should be included as one of differential diagnosis of a cystic lesion found in LFDR on CT and MR imaging. PMID:24482721

  9. Early-Onset Psychoses: Comparison of Clinical Features and Adult Outcome in 3 Diagnostic Groups

    ERIC Educational Resources Information Center

    Ledda, Maria Giuseppina; Fratta, Anna Lisa; Pintor, Manuela; Zuddas, Alessandro; Cianchetti, Carlo

    2009-01-01

    A comparison of clinical features and adult outcome in adolescents with three types of psychotic disorders: schizophrenic (SPh), schizoaffective (SA) and bipolar with psychotic features (BPP). Subjects (n = 41) were finally diagnosed (DSM-IV criteria) with SPh (n = 17), SA (n = 11) or BPP (n = 13). Clinical evaluation took place at onset and at a…

  10. LEPROSY NEPHROPATHY: A REVIEW OF CLINICAL AND HISTOPATHOLOGICAL FEATURES

    PubMed Central

    da Silva, Geraldo Bezerra; Daher, Elizabeth De Francesco; Pires, Roberto da Justa; Pereira, Eanes Delgado Barros; Meneses, Gdayllon Cavalcante; Araújo, Sônia Maria Holanda Almeida; Barros, Elvino José Guardão

    2015-01-01

    Leprosy is a chronic disease caused by Mycobacterium leprae, highly incapacitating, and with systemic involvement in some cases. Renal involvement has been reported in all forms of the disease, and it is more frequent in multibacillary forms. The clinical presentation is variable and is determined by the host immunologic system reaction to the bacilli. During the course of the disease there are the so called reactional states, in which the immune system reacts against the bacilli, exacerbating the clinical manifestations. Different renal lesions have been described in leprosy, including acute and chronic glomerulonephritis, interstitial nephritis, secondary amyloidosis and pyelonephritis. The exact mechanism that leads to glomerulonephritis in leprosy is not completely understood. Leprosy treatment includes rifampicin, dapsone and clofazimine. Prednisone and non-steroidal anti-inflammatory drugs may be used to control acute immunological episodes. PMID:25651321

  11. Trend and Network Analysis of Common Eligibility Features for Cancer Trials in ClinicalTrials.gov

    PubMed Central

    Weng, Chunhua; Yaman, Anil; Lin, Kuo; He, Zhe

    2015-01-01

    ClinicalTrials.gov has been archiving clinical trials since 1999, with > 165,000 trials at present. It is a valuable but relatively untapped resource for understanding trial design patterns and acquiring reusable trial design knowledge. We extracted common eligibility features using an unsupervised tag-mining method and mined their temporal usage patterns in clinical trials on various cancers. We then employed trend and network analysis to investigate two questions: (1) what eligibility features are frequently used to select patients for clinical trials within one cancer or across multiple cancers; and (2) what are the trends in eligibility feature adoption or discontinuation across cancer research domains? Our results showed that each cancer domain reuses a small set of eligibility features frequently for selecting cancer trial patients and some features are shared across different cancers, with value range adjustments for numerical measures. We discuss the implications for facilitating community-based clinical research knowledge sharing and reuse.

  12. Genetic and clinical features of primary torsion dystonia

    PubMed Central

    Ozelius, Laurie J.; Bressman, Susan B.

    2011-01-01

    Primary torsion dystonia (PTD) is defined as a syndrome in which dystonia is the only clinical sign (except for tremor), and there is no evidence of neuronal degeneration or an acquired cause by history or routine laboratory assessment. Seven different loci have been recognized for PTD but only two of the genes have been identified. In this review we will described the phenotypes associated with these loci and discuss the responsible gene. PMID:21168499

  13. Clinical Features of Schwannomatosis: A Retrospective Analysis of 87 Patients

    PubMed Central

    Merker, Vanessa L.; Esparza, Sonia; Smith, Miriam J.; Stemmer-Rachamimov, Anat

    2012-01-01

    Background. Schwannomatosis is a recently recognized form of neurofibromatosis characterized by multiple noncutaneous schwannomas, a histologically benign nerve sheath tumor. As more cases are identified, the reported phenotype continues to expand and evolve. We describe the spectrum of clinical findings in a cohort of patients meeting established criteria for schwannomatosis. Methods. We retrospectively reviewed the clinical records of patients seen at our institution from 1995–2011 who fulfilled either research or clinical criteria for schwannomatosis. Clinical, radiographic, and pathologic data were extracted with attention to age at onset, location of tumors, ophthalmologic evaluation, family history, and other stigmata of neurofibromatosis 1 (NF1) or NF2. Results. Eighty-seven patients met the criteria for the study. The most common presentation was pain unassociated with a mass (46%). Seventy-seven of 87 (89%) patients had peripheral schwannomas, 49 of 66 (74%) had spinal schwannomas, seven of 77 (9%) had nonvestibular intracranial schwannomas, and four of 77 (5%) had intracranial meningiomas. Three patients were initially diagnosed with a malignant peripheral nerve sheath tumor; however, following pathologic review, the diagnoses were revised in all three cases. Chronic pain was the most common symptom (68%) and usually persisted despite aggressive surgical and medical management. Other common diagnoses included headaches, depression, and anxiety. Conclusions. Peripheral and spinal schwannomas are common in schwannomatosis patients. Severe pain is difficult to treat in these patients and often associated with anxiety and depression. These findings support a proactive surveillance plan to identify tumors by magnetic resonance imaging scan in order to optimize surgical treatment and to treat associated pain, anxiety, and depression. PMID:22927469

  14. The Clinical Features of Sarcoidosis: A Comprehensive Review.

    PubMed

    Judson, Marc A

    2015-08-01

    Sarcoidosis has innumerable clinical manifestations, as the disease may affect every body organ. Furthermore, the severity of sarcoidosis involvement may range from an asymptomatic state to a life-threatening condition. This manuscript reviews a wide variety of common and less common clinical characteristics of sarcoidosis. These manifestations are presented organ by organ, although additional sections describe systemic and multiorgan presentations of sarcoidosis. The lung is the organ most commonly involved with sarcoidosis with at least 90 % of sarcoidosis patients demonstrating lung involvement in most series. The skin, eye, liver, and peripheral lymph node are the next most commonly clinically involved organs in most series, with the frequency of involvement ranging from 10 to 30 %. The actual frequency of sarcoidosis organ involvement is probably much higher as it is frequently asymptomatic and may avoid detection. This is particularly common with lung, liver, cardiac, and bone involvement. Cardiac sarcoidosis is present in 25 % of all sarcoidosis but only causes clinical problems in 5 % of them. Nevertheless, unlike sarcoidosis involvement of most other organs, it may be suddenly fatal. Therefore, it is important to screen for cardiac sarcoidosis in all sarcoidosis patients. All sarcoidosis patients should also be screened for eye involvement as asymptomatic patients may have eye involvement that may cause permanent vision impairment. Pulmonary fibrosis from sarcoidosis is usually slowly progressive but may be life-threatening because of the development of respiratory failure, pulmonary hypertension, or hemoptysis related to a mycetoma or bronchiectasis. Some manifestations of sarcoidosis are not organ-specific and probably are the result of a release of mediators from the sarcoid granuloma. Two such manifestations include small fiber neuropathy and fatigue syndromes, and they are observed in a large percentage of patients. PMID:25274450

  15. Clinical Risk Prediction by Exploring High-Order Feature Correlations

    PubMed Central

    Wang, Fei; Zhang, Ping; Wang, Xiang; Hu, Jianying

    2014-01-01

    Clinical risk prediction is one important problem in medical informatics, and logistic regression is one of the most widely used approaches for clinical risk prediction. In many cases, the number of potential risk factors is fairly large and the actual set of factors that contribute to the risk is small. Therefore sparse logistic regression is proposed, which can not only predict the clinical risk but also identify the set of relevant risk factors. The inputs of logistic regression and sparse logistic regression are required to be in vector form. This limits the applicability of these models in the problems when the data cannot be naturally represented vectors (e.g., medical images are two-dimensional matrices). To handle the cases when the data are in the form of multi-dimensional arrays, we propose HOSLR: High-Order Sparse Logistic Regression, which can be viewed as a high order extension of sparse logistic regression. Instead of solving one classification vector as in conventional logistic regression, we solve for K classification vectors in HOSLR (K is the number of modes in the data). A block proximal descent approach is proposed to solve the problem and its convergence is guaranteed. Finally we validate the effectiveness of HOSLR on predicting the onset risk of patients with Alzheimer’s disease and heart failure. PMID:25954428

  16. Viral etiology, clinical and laboratory features of adult hemophagocytic lymphohistiocytosis.

    PubMed

    Chen, Jinghong; Wang, Xuehua; He, Ping; Li, Yazhen; Si, Mengya; Fan, Zhichen; Chang, Xiaolan; Xie, Qindong; Jiao, Xiaoyang

    2016-03-01

    Secondary hemophagocytic lymphohistiocytosis (SHLH) is a potentially fatal hyperinflammatory syndrome with a heterogeneous etiology and has nonspecific clinical and laboratory findings. The diagnosis and treatment of adult SHLH is challenging because the etiology of the disease is difficult to identify, and the majority of reported cases are pediatric patients. The aim of this study was to describe the etiology, clinical characteristics, and outcomes of adult SHLH. Fifty-four adult patients who fulfilled the criteria of SHLH were enrolled in the study. Viral etiology, blood biomarkers, and clinical manifestations of SHLH were analyzed in these patients. Twenty-four SHLH patients had viraemia, whereas 30 SHLH patients were secondary to other diseases. Epstein-Barr virus (EBV) was the most common virus that associated SHLH among all viruses studied. Severe SHLH patients with EBV-viraemia presented significantly high levels of ferritin, lactate dehydrogenase, aspartate transaminase (AST), and alanine transaminase (ALT). Positively relationships existed between EBV DNA titers and levels of AST and ALT (P?

  17. Spontaneous Primary Intraventricular Hemorrhage: Clinical Features and Early Outcome

    PubMed Central

    Arboix, Adrià; García-Eroles, Luis; Vicens, Adela; Oliveres, Montserrat; Massons, Joan

    2012-01-01

    Purpose. Primary hemorrhage in the ventricular system without a recognizable parenchymal component is very rare. This single-center retrospective study aimed to further characterize the clinical characteristics and early outcome of this stroke subtype. Methods. All patients with primary intraventricular hemorrhage included in a prospective hospital-based stroke registry over a 19-year period were assessed. A standardized protocol with 161 items, including demographics, risk factors, clinical data, neuroimaging findings, and outcome, was used for data collection. A comparison was made between the groups of primary intraventricular hemorrhage and subcortical intracerebral hemorrhage. Predictors of primary intraventricular hemorrhage were identified by logistic regression analysis. Results. There were 12 patients with primary intraventricular hemorrhage (0.31% of all cases of stroke included in the database) and 133 in the cohort of subcortical hemorrhage. Very old age (?85 years) (odds ratio (OR) 9.89), atrial fibrillation (OR 8.92), headache (OR 6.89), and altered consciousness (OR 4.36) were independent predictors of intraventricular hemorrhage. The overall in-hospital mortality rate was 41.7% (5/12) but increased to 60% (3/5) in patients aged 85 years or older. Conclusion. Although primary intraventricular hemorrhage is uncommon, it is a severe clinical condition with a high early mortality. The prognosis is particularly poor in very old patients. PMID:22966468

  18. Clinical and molecular features of young-onset colorectal cancer

    PubMed Central

    Ballester, Veroushka; Rashtak, Shahrooz; Boardman, Lisa

    2016-01-01

    Colorectal cancer (CRC) is one of the leading causes of cancer related mortality worldwide. Although young-onset CRC raises the possibility of a hereditary component, hereditary CRC syndromes only explain a minority of young-onset CRC cases. There is evidence to suggest that young-onset CRC have a different molecular profile than late-onset CRC. While the pathogenesis of young-onset CRC is well characterized in individuals with an inherited CRC syndrome, knowledge regarding the molecular features of sporadic young-onset CRC is limited. Understanding the molecular mechanisms of young-onset CRC can help us tailor specific screening and management strategies. While the incidence of late-onset CRC has been decreasing, mainly attributed to an increase in CRC screening, the incidence of young-onset CRC is increasing. Differences in the molecular biology of these tumors and low suspicion of CRC in young symptomatic individuals, may be possible explanations. Currently there is no evidence that supports that screening of average risk individuals less than 50 years of age will translate into early detection or increased survival. However, increasing understanding of the underlying molecular mechanisms of young-onset CRC could help us tailor specific screening and management strategies. The purpose of this review is to evaluate the current knowledge about young-onset CRC, its clinicopathologic features, and the newly recognized molecular alterations involved in tumor progression. PMID:26855533

  19. Clinical Features of Spontaneous Partial Healing During Mycobacterium ulcerans Infection

    PubMed Central

    Marion, Estelle; Chauty, Annick; Kempf, Marie; Le Corre, Yannick; Delneste, Yves; Croue, Anne; Marsollier, Laurent

    2016-01-01

    Background. Buruli ulcer, caused by Mycobacterium ulcerans, is a necrotizing skin disease leading to extensive cutaneous and subcutaneous destruction and functional limitations. Spontaneous healing in the absence of medical treatment occurs in rare cases, but this has not been well described in the literature. Methods. In a retrospective case study in an area of Benin where this disease is highly endemic, we selected 26 Buruli ulcer patients presenting features of spontaneous healing from a cohort of 545 Buruli ulcer patients treated between 2010 and 2013. Results. The 26 patients studied had a median age of 13.5 years and were predominantly male (1.4:1). Three groups of patients were defined on the basis of their spontaneous healing characteristics. The first group (12 patients) consisted of patients with an ulcer of more than 1 year′s duration showing signs of healing. The second (13 patients) group contained patients with an active Buruli ulcer lesion some distance away from a first lesion that had healed spontaneously. Finally, the third group contained a single patient displaying complete healing of lesions from a nodule, without treatment and with no relapse. Conclusions. We defined several features of spontaneous healing in Buruli ulcer patients and highlighted the difficulties associated with diagnosis and medical management. Delays in consultation contributed to the high proportion of patients with permanent sequelae and a risk of squamous cell carcinoma. Early detection and antibiotic treatment are the best ways to reduce impairments. PMID:26925431

  20. Clinical and molecular features of young-onset colorectal cancer.

    PubMed

    Ballester, Veroushka; Rashtak, Shahrooz; Boardman, Lisa

    2016-02-01

    Colorectal cancer (CRC) is one of the leading causes of cancer related mortality worldwide. Although young-onset CRC raises the possibility of a hereditary component, hereditary CRC syndromes only explain a minority of young-onset CRC cases. There is evidence to suggest that young-onset CRC have a different molecular profile than late-onset CRC. While the pathogenesis of young-onset CRC is well characterized in individuals with an inherited CRC syndrome, knowledge regarding the molecular features of sporadic young-onset CRC is limited. Understanding the molecular mechanisms of young-onset CRC can help us tailor specific screening and management strategies. While the incidence of late-onset CRC has been decreasing, mainly attributed to an increase in CRC screening, the incidence of young-onset CRC is increasing. Differences in the molecular biology of these tumors and low suspicion of CRC in young symptomatic individuals, may be possible explanations. Currently there is no evidence that supports that screening of average risk individuals less than 50 years of age will translate into early detection or increased survival. However, increasing understanding of the underlying molecular mechanisms of young-onset CRC could help us tailor specific screening and management strategies. The purpose of this review is to evaluate the current knowledge about young-onset CRC, its clinicopathologic features, and the newly recognized molecular alterations involved in tumor progression. PMID:26855533

  1. Auditory dysfunction in schizophrenia: integrating clinical and basic features

    PubMed Central

    Javitt, Daniel C.; Sweet, Robert A.

    2015-01-01

    Schizophrenia is a complex neuropsychiatric disorder that is associated with persistent psychosocial disability in affected individuals. Although studies of schizophrenia have traditionally focused on deficits in higher-order processes such as working memory and executive function, there is an increasing realization that, in this disorder, deficits can be found throughout the cortex and are manifest even at the level of early sensory processing. These deficits are highly amenable to translational investigation and represent potential novel targets for clinical intervention. Deficits, moreover, have been linked to specific structural abnormalities in post-mortem auditory cortex tissue from individuals with schizophrenia, providing unique insights into underlying pathophysiological mechanisms. PMID:26289573

  2. Auditory dysfunction in schizophrenia: integrating clinical and basic features.

    PubMed

    Javitt, Daniel C; Sweet, Robert A

    2015-09-01

    Schizophrenia is a complex neuropsychiatric disorder that is associated with persistent psychosocial disability in affected individuals. Although studies of schizophrenia have traditionally focused on deficits in higher-order processes such as working memory and executive function, there is an increasing realization that, in this disorder, deficits can be found throughout the cortex and are manifest even at the level of early sensory processing. These deficits are highly amenable to translational investigation and represent potential novel targets for clinical intervention. Deficits, moreover, have been linked to specific structural abnormalities in post-mortem auditory cortex tissue from individuals with schizophrenia, providing unique insights into underlying pathophysiological mechanisms. PMID:26289573

  3. Clinical features of children and adolescents with multiple sclerosis.

    PubMed

    Ness, J M; Chabas, D; Sadovnick, A D; Pohl, D; Banwell, B; Weinstock-Guttman, B

    2007-04-17

    There is increasing appreciation that multiple sclerosis (MS) can begin in childhood or adolescence, but pediatric MS continues to be a rare entity, with an estimated 2 to 5% of patients with MS experiencing their first clinical symptoms before age 16. A prompt diagnosis of pediatric MS is important to optimize overall management of both the physical and social impact of the disease. The widespread use of disease-modifying therapies (DMT) for MS in adults, as early as following an initial isolated episode, has led to the use of DMT in children and adolescents with MS. However, it is imperative to distinguish pediatric MS from other childhood CNS inflammatory demyelinating disorders such as acute disseminated encephalomyelitis. Although increasing evidence suggests a slower disease course in children with MS compared to adults, significant disability can still accumulate by early adulthood. Furthermore, associated neurocognitive deficits can impair both academic and psychosocial function at a critical juncture in a young person's life. This article reviews the clinical characteristics, neuroimaging, paraclinical findings, disease course, epidemiology, genetics, and pathophysiology of pediatric MS vis-à-vis adult MS. Further research of pediatric MS may advance our understanding of MS pathophysiology in general, as well as improve the long-term health care outcomes of children and adolescents diagnosed with MS. PMID:17438237

  4. Clinical features and reproductive patterns in fragile X female heterozygotes.

    PubMed Central

    Loesch, D Z; Hay, D A

    1988-01-01

    Clinical findings are presented on 113 fragile X female heterozygotes from 44 families, based on physical examination, behavioural assessment, and reproductive history. In 85% of a subsample of 92 adult females non-verbal IQ score derived from the Block Design test was 85 or less. Verbal ability deficits were much less common. Typical facial characteristics, irregular teeth, and hypermobility of finger joints occurred in approximately 40% of adult females, but facial abnormalities were less common in children. Some physical anomalies and the level of intellectual impairment were, in adult carriers, associated with the presence of fragile X sites. The commoner physical anomalies or typical facial characteristics and intellectual abilities differed significantly between the known female heterozygotes and their 40 presumed normal relatives. Frequency of miscarriages was increased in fragile X females; in spite of this, a moderate increase in the number of children has been encountered in female carriers with borderline intellectual impairment. This important problem has genetical implications and needs further investigation. The importance is emphasised of a more detailed clinical examination of the females at risk in fragile X families. Images PMID:3398009

  5. Porokeratoses: an update of clinical, aetiopathogenic and therapeutic features.

    PubMed

    Kanitakis, Jean

    2014-01-01

    Porokeratoses represent a group of uncommon, acquired or hereditary dermatoses, due to a keratinization disorder whose origin is still unclear; they could be due to the expansion of a clone of abnormal epidermal keratinocytes. Several clinical forms exist, of which the most common is disseminated superficial actinic porokeratosis; other forms include Mibelli, disseminated superficial, linear, palmoplantaris punctata and palmaris, plantaris et disseminata. These may coexist in the same patient or in different members of the same family. Porokeratoses manifest clinically with annular or linear, well-circumscribed keratotic plaques and share a common histological hallmark, the cornoid lamella, a vertical stack of parakeratotic corneocytes within the horny layer resting on a shallow depression of the underlying epidermis. Porokeratoses may be seen in the setting of various immunodeficiencies, namely in organ-transplant recipients, in whom the course of the disease may parallel the degree of immunosuppression. The overall prognosis of porokeratoses is favourable but is shadowed by the possibility of malignant transformation of the lesions (usually into squamous cell carcinoma); this happens in less than 10% of cases but may prove fatal. Although several surgical or medical (local or systemic) treatments have been tried, none of them has shown consistent and long-term efficacy. PMID:25115203

  6. Clinical features of spinal and bulbar muscular atrophy

    PubMed Central

    Rhodes, Lindsay E.; Freeman, Brandi K.; Auh, Sungyoung; Kokkinis, Angela D.; La Pean, Alison; Chen, Cheunju; Lehky, Tanya J.; Shrader, Joseph A.; Levy, Ellen W.; Harris-Love, Michael; Di Prospero, Nicholas A.

    2009-01-01

    Spinal and bulbar muscular atrophy is an X-linked motor neuron disease caused by a CAG repeat expansion in the androgen receptor gene. To characterize the natural history and define outcome measures for clinical trials, we assessed the clinical history, laboratory findings and muscle strength and function in 57 patients with genetically confirmed disease. We also administered self-assessment questionnaires for activities of daily living, quality of life and erectile function. We found an average delay of over 5 years from onset of weakness to diagnosis. Muscle strength and function correlated directly with serum testosterone levels and inversely with CAG repeat length, age and duration of weakness. Motor unit number estimation was decreased by about half compared to healthy controls. Sensory nerve action potentials were reduced in nearly all subjects. Quantitative muscle assessment and timed 2 min walk may be useful as meaningful indicators of disease status. The direct correlation of testosterone levels with muscle strength indicates that androgens may have a positive effect on muscle function in spinal and bulbar muscular atrophy patients, in addition to the toxic effects described in animal models. PMID:19846582

  7. Clinical features and management of primary biliary cirrhosis

    PubMed Central

    Crosignani, Andrea; Battezzati, Pier Maria; Invernizzi, Pietro; Selmi, Carlo; Prina, Elena; Podda, Mauro

    2008-01-01

    Primary biliary cirrhosis (PBC), which is characterized by progressive destruction of intrahepatic bile ducts, is not a rare disease since both prevalence and incidence are increasing during the last years mainly due to the improvement of case finding strategies. The prognosis of the disease has improved due to both the recognition of earlier and indolent cases, and to the wide use of ursodeoxycholic acid (UDCA). New indicators of prognosis are available that will be useful especially for the growing number of patients with less severe disease. Most patients are asymptomatic at presentation. Pruritus may represent the most distressing symptom and, when UDCA is ineffective, cholestyramine represents the mainstay of treatment. Complications of long-standing cholestasis may be clinically relevant only in very advanced stages. Available data on the effects of UDCA on clinically relevant end points clearly indicate that the drug is able to slow but not to halt the progression of the disease while, in advanced stages, the only therapeutic option remains liver transplantation. PMID:18528929

  8. Microscopic Enteritis; clinical features and correlations with symptoms

    PubMed Central

    Shahraki, Touran; Shahraki, Mansour; Bold, Justine; Danciu, Mihai; Al Dulaimi, David; Villanacci, Vincenzo; Bassotti, Gabrio

    2012-01-01

    Aim To assess the clinical characteristic of CD as well as correlation of symptoms and the degrees of intestinal mucosal lesions in Iranian children. Background Microscopic Enteritis (Marsh 0-II) is associated with malabsorption. Patients and methods From August 2005 to September 2009, 111 cases with malabsorption and classical gastrointestinal symptoms were evaluated. Results The mean (±SD) age of children with CD was 4.9±3.5 years (range, 6 month - 16 years) and the mean duration of symptoms was 8 ± 20.5 months. 50 cases (45%) were female and 61 cases (55%) were male. The most common clinical presentation was failure to thrive in 72%, chronic diarrhea in 65.8% and Iron deficiency anemia in 59.5%. Sensitivity of EMA was 100% in patients with Marsh IIIb and Marsh IIIc. EMA was also positive in 77% of cases with Marsh 0, 18% in Marsh I, 44% in Marsh II and 81.8% in patients with Marsh IIIa. Conclusion Histopathology did not reflect the severity of gluten sensitivity. This would suggest that the degree of intestinal mucosal damage might not be a reliable prognostic factor. Significant symptoms can be present with minor histological change on biopsy. PMID:24834216

  9. Cutaneous invasion from sarcomatoid urothelial carcinoma: clinical and dermatopathologic features*

    PubMed Central

    Bernardes Filho, Fred; de Melo, Alessandro Severo Alves; Pires, Andréa Rodriguez Cordovil; Lupi, Omar; Neves, Daniel Gama das; da Cruz, Margareth Fernandes; Kac, Bernard Kawa

    2016-01-01

    In Brazil, without considering the non-melanoma skin tumors, bladder cancer in men is the eighth most common, and the urothelial carcinoma or transitional cell carcinoma is the most common among these. Cutaneous metastases from urothelial neoplasms appear as single or multiple erythematous, infiltrated nodules or plaques, and like other cases of distant disease, it is indicative of poor prognosis. The invasive urothelial carcinoma is recognized for its ability to present divergent differentiation and morphological variants. The sarcomatoid urothelial carcinoma is a rare cancer that consists of two different components: one composed of epithelial tissue and the other with sarcomatoid features of mesenchymal origin. The authors describe a case of cutaneous metastasis of sarcomatoid urothelial carcinoma in a 63-year-old male patient. PMID:26982782

  10. Clinical feasibility of rapid confocal melanoma feature detection

    NASA Astrophysics Data System (ADS)

    Hennessy, Ricky; Jacques, Steve; Pellacani, Giovanni; Gareau, Daniel

    2010-02-01

    In vivo reflectance confocal microscopy shows promise for the early detection of malignant melanoma. One diagnostic trait of malignancy is the presence of pagetoid melanocytes in the epidermis. For automated detection of MM, this feature must be identified quantitatively through software. Beginning with in vivo, noninvasive confocal images from 10 unequivocal MMs and benign nevi, we developed a pattern recognition algorithm that automatically identified pagetoid melanocytes in all four MMs and identified none in five benign nevi. One data set was discarded due to artifacts caused by patient movement. With future work to bring the performance of this pattern recognition technique to the level of the clinicians on difficult lesions, melanoma diagnosis could be brought to primary care facilities and save many lives by improving early diagnosis.

  11. Malaria in pregnancy: clinical features and outcome of treatment.

    PubMed

    Endeshaw, Y

    1991-07-01

    Over two consecutive malaria seasons in 1987 and 1988, 37 patients were admitted to the Gonder College Hospital with malaria in pregnancy. In 10 patients the diagnosis was missed initially and delayed for up to 72 hours after admission. The differential diagnoses considered on first line included incomplete abortion, labour, postpartum haemorrhage, and fulminant hepatitis in pregnancy. Twelve patients (32.4%) died, five of these died undelivered. Fifteen pregnancies (40.5%) ended up in abortion, preterm delivery with early neonatal death and still birth. This study has shown that malaria in pregnancy can have different clinical manifestations that may mislead the physician. This may delay the diagnosis and initiation of treatment which may have a fatal outcome for both the mother and the baby. PMID:1915317

  12. [Clinical features of relapsing remitting-multiple sclerosis. Prognostic factors].

    PubMed

    Fernández-Fernández, O

    Multiple sclerosis is the most frequent chronic neurological disease in young adults of the white population in developed countries. The diagnosis has been notably improved by the use of universal diagnostic criteria and by the extraordinary help of the paraclinical methods of laboratory studies, evocated potentials and particularly magnetic resonance imaging. Nowadays there are consensus criteria for the classification of the different clinical subtypes. Relapsing remitting multiple sclerosis is the most frequent subtype and eventually evolves to a secondary progressive form. Ultimately there have been notably advances in the knowledge of the natural history and of the pathogenetic mechanisms of the disease, which has permitted a more precocious therapeutic intervention, that ideally will provide a more benign prognosis for this disease. PMID:12497314

  13. The nasal vestibular body: anatomy, clinical features, and treatment considerations.

    PubMed

    Locketz, Garrett D; Teo, Neville W; Walgama, Evan; Humphreys, Ian M; Nayak, Jayakar V

    2016-03-01

    Nasal obstruction is a common presenting complaint, with many possible etiologies. Herein, we provide an introductory anatomic description, clinical relevance, and proposed nomenclature for an underappreciated soft tissue focus in the nasal vestibule-the nasal vestibular body (NVB)-that can contribute to nasal obstruction in a subset of patients. This is a small mound of dynamic soft tissue in the lateral aspect of the internal nasal valve, situated inferior and anterior to the head of the inferior turbinate that can be missed on routine examination for many salient reasons. In well-selected patients, whose symptoms of nasal obstruction may in part be secondary to the presence of this soft tissue focus, directed testing and tissue reduction can be performed. PMID:26825801

  14. Clinical and molecular features of POLG-related mitochondrial disease.

    PubMed

    Stumpf, Jeffrey D; Saneto, Russell P; Copeland, William C

    2013-04-01

    The inability to replicate mitochondrial genomes (mtDNA) by the mitochondrial DNA polymerase (pol ?) leads to a subset of mitochondrial diseases. Many mutations in POLG, the gene that encodes pol ?, have been associated with mitochondrial diseases such as myocerebrohepatopathy spectrum (MCHS) disorders, Alpers-Huttenlocher syndrome, myoclonic epilepsy myopathy sensory ataxia (MEMSA), ataxia neuropathy spectrum (ANS), and progressive external ophthalmoplegia (PEO). This chapter explores five important topics in POLG-related disease: (1) clinical symptoms that identify and distinguish POLG-related diseases, (2) molecular characterization of defects in polymerase activity by POLG disease variants, (3) the importance of holoenzyme formation in disease presentation, (4) the role of pol ? exonuclease activity and mutagenesis in disease and aging, and (5) novel approaches to therapy and avoidance of toxicity based on primary research in pol ? replication. PMID:23545419

  15. Clinical features, investigation and treatment of post-traumatic syringomyelia.

    PubMed Central

    Shannon, N; Symon, L; Logue, V; Cull, D; Kang, J; Kendall, B

    1981-01-01

    Thirteen patients who sustained spinal cord trauma causing persisting disability, developed new symptoms, the chief one of which was severe pain unrelieved by analgesics. The clinical diagnosis of post traumatic syringomyelia was confirmed in each case by means of myelography, as well as endomyelography in seven patients. In every case exploration of the spinal cord syrinx was performed. Ten patients were troubled by severe pain while three patients were mainly subject to altered sensation in the upper limbs. Of the six patients who had initially sustained complete cord transections, three were treated by cord transection and three were treated by syringostomy. The seven patients who sustained incomplete cord lesions were all treated by syringostomy. The patients who initially sustained incomplete sensory motor spinal cord damage had a better symptomatic response to surgery than hose who had sustained a complete spinal cord lesion. The ten patients whose main symptom was severe pain were completely relieved of their symptoms by surgery. Images PMID:7205304

  16. Calibre Persistent Labial Artery: Clinical Features and Immunohistochemistry Diagnosis.

    PubMed

    Santagata, M; Maglione, M; Colella, G; D'Amato, S

    2015-09-01

    Calibre persistent labial artery (CPLA) usually presents as an asymptomatic papule on the lower lip and can be easily misdiagnosed as a mucocele, haemangioma, venous lake, varix or fibroma. When it is ulcerated, squamous cell carcinoma is the most usual differential diagnosis. Here, we report a case of a 25-year-old woman with no previous relevant medical history who presented with a complaint of an asymptomatic, non-ulcerated, progressively growing nodule (over the last 5 months) on the upper lip. In this case, the diagnosis was made clinically and confirmed by immunohistochemical analysis. We conclude that clinicians should be aware of CPLA and it should be included in the differential diagnosis of labial mucosal papules. Sometimes, the immunohistochemical analysis is necessary to make a correct diagnosis. PMID:26225087

  17. Clinical Features of Spinal Cord Hemangioblastoma in a Dog

    PubMed Central

    Michaels, Jennifer; Thomas, William; Ferguson, Sylvia; Hecht, Silke

    2015-01-01

    A 2-year-old male, intact Yorkshire terrier presented with a 1-month history of progressive paraparesis. Neurological examination revealed paraplegia with absent deep pain perception, decreased right pelvic limb withdrawal reflex, and lumbar pain consistent with an L4–S2 neurolocalization. Magnetic resonance imaging (MRI) showed a single, well-demarcated, intramedullary mass centered over the L3–4 disk space. A hemilaminectomy was performed, and the mass was removed en bloc. Histopathological evaluation was consistent with a hemangioblastoma. Follow-up MRI 9 months after surgery showed no evidence of tumor recurrence, and the dog was ambulatory paraparetic at that time. This case is consistent with a previous histopathological report of spinal cord hemangioblastoma in a dog and provides additional clinical information regarding diagnosis, treatment, and outcome associated with this tumor type. PMID:26664967

  18. Severe scrub typhus infection: Clinical features, diagnostic challenges and management

    PubMed Central

    Peter, John Victor; Sudarsan, Thomas I; Prakash, John Anthony J; Varghese, George M

    2015-01-01

    Scrub typhus infection is an important cause of acute undifferentiated fever in South East Asia. The clinical picture is characterized by sudden onset fever with chills and non-specific symptoms that include headache, myalgia, sweating and vomiting. The presence of an eschar, in about half the patients with proven scrub typhus infection and usually seen in the axilla, groin or inguinal region, is characteristic of scrub typhus. Common laboratory findings are elevated liver transaminases, thrombocytopenia and leukocytosis. About a third of patients admitted to hospital with scrub typhus infection have evidence of organ dysfunction that may include respiratory failure, circulatory shock, mild renal or hepatic dysfunction, central nervous system involvement or hematological abnormalities. Since the symptoms and signs are non-specific and resemble other tropical infections like malaria, enteric fever, dengue or leptospirosis, appropriate laboratory tests are necessary to confirm diagnosis. Serological assays are the mainstay of diagnosis as they are easy to perform; the reference test is the indirect immunofluorescence assay (IFA) for the detection of IgM antibodies. However in clinical practice, the enzyme-linked immuno-sorbent assay is done due to the ease of performing this test and a good sensitivity and sensitivity when compared with the IFA. Paired samples, obtained at least two weeks apart, demonstrating a ≥ 4 fold rise in titre, is necessary for confirmation of serologic diagnosis. The mainstay of treatment is the tetracycline group of antibiotics or chloramphenicol although macrolides are used alternatively. In mild cases, recovery is complete. In severe cases with multi-organ failure, mortality may be as high as 24%. PMID:26261776

  19. Dorsal Tear of Triangular Fibrocartilage Complex: Clinical Features and Treatment.

    PubMed

    Abe, Yukio; Moriya, Atsushi; Tominaga, Yasuhiro; Yoshida, Koji

    2016-03-01

    Background?Several different triangular fibrocartilage complex (TFCC) tear patterns have been classified through the use of wrist arthroscopy. A tear of the dorsal aspect of the TFCC has been previously reported, but it is not included in Palmer original classification. Our purpose was to describe this type of tear pattern along with the clinical presentation. Methods?An isolated dorsal TFCC tear was encountered in seven wrists of six patients (three men and three women; average age was 31 years). All patients were evaluated by physical exam, X-ray, plain axial computed tomography with pronation, neutral and supination position, magnetic resonance imaging (MRI) with coronal, sagittal, and axial section and arthroscopy. Results?The clinical findings varied and included the following: tenderness at the dorsoulnar aspect of the wrist was positive in all wrists, fovea sign was positive in five wrists, and tenderness at the dorsal aspect of the distal radioulnar joint was present in one wrist. Pain with forearm rotation was positive in all wrists. The ulnar head ballottement test induced pain in all wrists, whereas dorsal instability of the ulnar head was present in one wrist with this test. The ulnocarpal stress test was positive in five wrists. Axial and sagittal images on MRI revealed the dorsal tear in five wrists. All wrists were treated with an arthroscopic capsular repair. The final functional outcome at an average follow-up of 16.1 months was four excellent and one good wrist according to the modified Mayo wrist score. Conclusions?The aim of this article is to describe our experiences with tears involving the dorsal aspect of the TFCC, which may be misdiagnosed if the surgeon is not cognizant of this injury. Type of study/level of evidence?Diagnostic/level IV. PMID:26855835

  20. Molecular Allergy Diagnostics: Analytical Features That Support Clinical Decisions.

    PubMed

    Hamilton, Robert G; Kleine-Tebbe, Joerg

    2015-09-01

    Application of purified native and recombinant allergenic molecules into IgE antibody assays can improve analytical sensitivity and specificity for selected allergen specificities. They enhance analytical sensitivity by allowing assays to detect IgE antibodies with a lower limit of quantification (LoQ) to missing or poorly represented allergens in diagnostic extracts that are commonly used in vivo and in vitro. Use of selected allergenic molecules can help improve the clinician's prediction of the risk of a serious allergic reaction to stable allergens. They can provide diagnostic information to determine if a provocation challenge (e.g., oral food challenge) is indeed mandatory or not necessarily needed to support the final diagnostic decision. Suspected cross-reactivity based on the clinical history can be adjudicated by analyzing IgE antibodies to allergenic molecules from cross-reactive protein families. Finally, genuine primary sensitization can be identified by IgE antibody responses that are measured to selected allergenic molecules which are present in only one particular allergen source. After allergen-specific IgE detection, careful interpretation is required by the physician who knows the patient's history. Applying single allergen molecules, positive IgE antibody results are still only relevant in the case of corresponding objective symptoms. Subsequently, clinical relevance of such an IgE antibody test result must be determined by the clinician and not by the test itself. Because of their comprehensive nature, allergen extracts will remain the principal allergen source for diagnostic in vivo and in vitro assays of IgE antibody for many years. Judicious use of individual allergenic molecules in serum IgE assays may provide their most cost effective and efficient application for establishing a definitive diagnosis of human allergic disease. PMID:26233428

  1. Clinical Features of Young Children Referred for Impairing Temper Outbursts

    PubMed Central

    Klein, Rachel G.; Angelosante, Aleta; Bar-Haim, Yair; Leibenluft, Ellen; Hulvershorn, Leslie; Dixon, Erica; Dodds, Alice; Spindel, Carrie

    2013-01-01

    Abstract Objective In light of the current controversy about whether severe temper outbursts are diagnostic of mania in young children, we conducted a study to characterize such children, focusing on mania and other mood disorders, emotion regulation, and parental psychiatric history. Methods Study participants included 51 5–9-year-old children with frequent, impairing outbursts (probands) and 24 non-referred controls without outbursts. Parents completed a lifetime clinical interview about their child, and rated their child's current mood and behavior. Teachers completed a behavior rating scale. To assess emotion regulation, children were administered the Balloons Game, which assesses emotion expressivity in response to frustration, under demands of high and low regulation. Parental lifetime diagnoses were ascertained in blind clinical interviews. Results No child had bipolar disorder, bipolar disorder not otherwise specified (NOS), or major depression (MDD). The most prevalent disorder was oppositional defiant disorder (88.2%), followed by attention-deficit/hyperactivity disorder (74.5%), anxiety disorders (49.0%), and non-MDD depressive disorders (33.3%). Eleven probands (21.6%) met criteria for severe mood dysregulation. During the Balloons Game, when there were no demands for self-regulation, children with severe outbursts showed reduced positive expressivity, and also showed significant deficits in controlling negative facial expressions when asked to do so. Anxiety disorders were the only diagnoses significantly elevated in probands' mothers. Conclusions Overall, young children with severe temper outbursts do not present with bipolar disorder. Rather, disruptive behavior disorders with anxiety and depressive mood are common. In children with severe outbursts, deficits in regulating emotional facial expressions may reflect deficits controlling negative affect. This work represents a first step towards elucidating mechanisms underlying severe outbursts in young children. PMID:24168713

  2. Severe scrub typhus infection: Clinical features, diagnostic challenges and management.

    PubMed

    Peter, John Victor; Sudarsan, Thomas I; Prakash, John Anthony J; Varghese, George M

    2015-08-01

    Scrub typhus infection is an important cause of acute undifferentiated fever in South East Asia. The clinical picture is characterized by sudden onset fever with chills and non-specific symptoms that include headache, myalgia, sweating and vomiting. The presence of an eschar, in about half the patients with proven scrub typhus infection and usually seen in the axilla, groin or inguinal region, is characteristic of scrub typhus. Common laboratory findings are elevated liver transaminases, thrombocytopenia and leukocytosis. About a third of patients admitted to hospital with scrub typhus infection have evidence of organ dysfunction that may include respiratory failure, circulatory shock, mild renal or hepatic dysfunction, central nervous system involvement or hematological abnormalities. Since the symptoms and signs are non-specific and resemble other tropical infections like malaria, enteric fever, dengue or leptospirosis, appropriate laboratory tests are necessary to confirm diagnosis. Serological assays are the mainstay of diagnosis as they are easy to perform; the reference test is the indirect immunofluorescence assay (IFA) for the detection of IgM antibodies. However in clinical practice, the enzyme-linked immuno-sorbent assay is done due to the ease of performing this test and a good sensitivity and sensitivity when compared with the IFA. Paired samples, obtained at least two weeks apart, demonstrating a ≥ 4 fold rise in titre, is necessary for confirmation of serologic diagnosis. The mainstay of treatment is the tetracycline group of antibiotics or chloramphenicol although macrolides are used alternatively. In mild cases, recovery is complete. In severe cases with multi-organ failure, mortality may be as high as 24%. PMID:26261776

  3. Ocular toxocariasis: clinical features, diagnosis, treatment, and prevention

    PubMed Central

    Ahn, Seong Joon; Ryoo, Na-Kyung

    2014-01-01

    Despite being one of the most common zoonotic infections worldwide, human toxocariasis has been one of the neglected tropical diseases. Although most human infections are asymptomatic, two main syndromes of human toxocariasis are classically recognized: systemic toxocariasis, which encompasses diseases in major organs; and ocular toxocariasis (OT), disease in the eye or optic nerve, caused by the migration of Toxocara larvae into the eye. OT is usually a unilateral disease, which typically presents as retinal granuloma, a yellowish or whitish inflammatory mass, in the posterior pole or peripheral retina. Granuloma itself or other comorbid conditions such as epiretinal membrane, macular edema, and retinal detachment can lead to permanent retinal damage and visual loss in eyes with OT. OT is diagnosed clinically by identification of clinical signs on ophthalmologic examination. Serological tests, such as enzyme-linked immunosorbent assay (ELISA) for detection of serum antibody against the Toxocara larvae, can confirm the diagnosis. In addition, serum immunoglobulin E and detection of ocular fluid antitoxocara antibody by ELISA may give additional aid to the diagnosis. Standard treatment of OT is corticosteroid in patients with active intraocular inflammation. Although the role of anthelmintic therapy is unclear, favorable outcome has been reported by combined corticosteroid and albendazole therapy in eyes with active inflammation. Prevention, by increasing public awareness and reducing the risk of infection, is also important. Recently, the association between ingestion of uncooked meat or liver and toxocariasis was reported, especially in adult patients. Future research on the potential source of infection, diagnosis, and treatment should be performed. PMID:25097848

  4. 45,X maleness: clinical and cytogenetic features in two patients.

    PubMed

    Dati, E; Valetto, A; Bertini, V; Chiocca, E; Baroncelli, G I; Battini, R; Bertelloni, Silvano

    2011-01-01

    45,X maleness is a very rare disorder. We report on 2 new 45,X males aged 9 10/12 and 39 years, respectively. The boy presented for developmental delay, while the man was referred to us because of infertility. Both patients showed short stature (boy -2.29 SDS, man -4.05 SDS) and an unbalanced translocation of Yp, including SRY, onto the long arm of chromosome 10 and short arm of chromosome 14, respectively. The growth pattern of the 2 patients and literature data suggest the presence of a specific growth gene in the pericentrometric region of Yq. In addition, developmental delay in some 45,X males may be related to specific deletion of telomeric autosome regions, but involvement of gene(s) on the Y chromosome may play a role as well. Albeit in the boy inhibin B levels were in the normal range for age, azoospermia was demonstrated in the adult, supporting that infertility is a feature of adult 45,X men with AZFa-c deletion. PMID:22327198

  5. Actinic keratosis and squamous cell carcinoma: clinical and pathological features.

    PubMed

    Filosa, A; Filosa, G

    2015-08-01

    Actinic keratoses (AKs) are the most common keratinocytederived precancerous lesion in humans; they can be observed predominantly in fair-skinned individuals on sun-exposed surfaces. The primary risk factor for AKs is cumulative UV exposure from sunlight and/or tanning salons. AKs may present on a patient as a few detectable lesions. In addition to these, there are subclinical (invisible) AKs that are estimated to occur up to 10 times more often than visible AKs, since unprotected skin receives UV radiation from the sun. Clinical and subclinical AK lesions occurring in photo-damaged skin are called field cancerization. A field of change can be up to 7 cm around the primary lesions, resulting in lesions that are genetically similar. AKs are defined at the histologic level by dysplasia and consist of keratinocytes manifesting atypical nuclei that are enlarged, irregular, and hyperchromatic. The histopathologic changes noted in keratinocytic proliferative lesions involve disturbance of normal surface maturation. The degree and extent of keratinocytic atypia vary in these lesions. The atypical keratinocytes show enlarged nuclei with hyperchromasia, dyskeratosis and mitoses in any layer of the epidermis. In lesions of epidermal dysplasias, surface keratinocytic maturation is present, and a granular cell layer is usually noted. In intraepidermal carcinomas, there is full-thickness involvement of the epidermis by the atypical keratinocytes. While molecular techniques have improved our ability to distinguish squamous cell carcinomas (SCCs) from AKs, they have also reinforced the concept that non-melanoma skin cancers arise through a complex series of aberrations at the molecular level. AKs represent a spectrum along the continuum to invasive cancer. They are the most visible manifestation of field cancerization which creates a population of atypical cells with the potential to progress to invasive malignancy capable of metastasis. As the perilesional epithelium also has abnormalities due to photo exposure, understanding the existence of a "cancerization field" should be explained to the patients, reinforcing the importance of preventive clinical follow-up. The aim of the present review was to emphasize the histopathological aspect of the morphological spectrum in AK, and SCCs, also elucidating the clinicopathology of field canceriziation. PMID:26099352

  6. Acute chorioamnionitis and funisitis: definition, pathologic features, and clinical significance.

    PubMed

    Kim, Chong Jai; Romero, Roberto; Chaemsaithong, Piya; Chaiyasit, Noppadol; Yoon, Bo Hyun; Kim, Yeon Mee

    2015-10-01

    Acute inflammatory lesions of the placenta consist of diffuse infiltration of neutrophils at different sites in the organ. These lesions include acute chorioamnionitis, funisitis, and chorionic vasculitis and represent a host response (maternal or fetal) to a chemotactic gradient in the amniotic cavity. While acute chorioamnionitis is evidence of a maternal host response, funisitis and chorionic vasculitis represent fetal inflammatory responses. Intraamniotic infection generally has been considered to be the cause of acute chorioamnionitis and funisitis; however, recent evidence indicates that "sterile" intraamniotic inflammation, which occurs in the absence of demonstrable microorganisms induced by "danger signals," is frequently associated with these lesions. In the context of intraamniotic infection, chemokines (such as interleukin-8 and granulocyte chemotactic protein) establish a gradient that favors the migration of neutrophils from the maternal or fetal circulation into the chorioamniotic membranes or umbilical cord, respectively. Danger signals that are released during the course of cellular stress or cell death can also induce the release of neutrophil chemokines. The prevalence of chorioamnionitis is a function of gestational age at birth, and present in 3-5% of term placentas and in 94% of placentas delivered at 21-24 weeks of gestation. The frequency is higher in patients with spontaneous labor, preterm labor, clinical chorioamnionitis (preterm or term), or ruptured membranes. Funisitis and chorionic vasculitis are the hallmarks of the fetal inflammatory response syndrome, a condition characterized by an elevation in the fetal plasma concentration of interleukin-6, and associated with the impending onset of preterm labor, a higher rate of neonatal morbidity (after adjustment for gestational age), and multiorgan fetal involvement. This syndrome is the counterpart of the systemic inflammatory response syndrome in adults: a risk factor for short- and long-term complications (ie, sterile inflammation in fetuses, neonatal sepsis, bronchopulmonary dysplasia, periventricular leukomalacia, and cerebral palsy). This article reviews the definition, pathogenesis, grading and staging, and clinical significance of the most common lesions in placental disease. Illustrations of the lesions and diagrams of the mechanisms of disease are provided. PMID:26428501

  7. Mitochondrial dementia: a sporadic case of progressive cognitive and behavioral decline with hearing loss due to the rare m.3291T>C MELAS mutation.

    PubMed

    Salsano, Ettore; Giovagnoli, Anna Rita; Morandi, Lucia; Maccagnano, Carmelo; Lamantea, Eleonora; Marchesi, Chiara; Zeviani, Massimo; Pareyson, Davide

    2011-01-15

    We report the case of a 23-year-old Italian female harboring the rare m.3291T>C mutation in the MT-TL1 gene, that encodes the mitochondrial transfer RNA for leucine 1 (UUA/G). MT-TL1 mutations usually cause the MELAS (mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes) syndrome. Our patient, however, suffered from a non-syndromic mitochondrial disorder (MID), clinically characterized by progressive cognitive and behavioral decline, and hearing loss; brain MRI disclosed diffuse supratentorial and infratentorial atrophy; EKG revealed a Wolff-Parkinson-White syndrome; combined neuroleptic and antidepressant treatment markedly improved her behavioral symptoms. This case expands the clinical spectrum of non-syndromic MIDs, and further confirms that no obvious genotype-phenotype correlation exists for the m.3291T>C DNA mutation; indeed, this mutation has been previously reported in a Japanese child, who suffered from MELAS, and in an Italian child, who presented an apparently isolated mild myopathy. Moreover, it supports the hypothesis that at least in MT-TL1-related MIDs, dementia may be caused by a progressive neurodegenerative process, rather than by injury accumulation due to stroke-like episodes. Finally, our case suggests that common neuroleptic and antidepressant drugs may be clinically efficacious in the management of psychiatric symptoms associated with MIDs. PMID:20943236

  8. Clinical features of pulmonary arterial hypertension in patients receiving dasatinib.

    PubMed

    Shah, Neil P; Wallis, Nicola; Farber, Harrison W; Mauro, Michael J; Wolf, Robert A; Mattei, Daniele; Guha, Mausumee; Rea, Delphine; Peacock, Andrew

    2015-11-01

    The prognosis of most leukemia patients treated with BCR-ABL tyrosine kinase inhibitors (TKIs) is favorable, and a more precise understanding of serious and potentially irreversible treatment-related toxicities is essential to properly inform treatment choice. Few cases of pulmonary arterial hypertension (PAH) have been reported in patients with leukemia treated with dasatinib, a second-generation BCR-ABL TKI. To better understand characteristics and outcomes of dasatinib-treated patients with PAH, all clinical cases of PAH confirmed by right-heart catheterization in the Bristol-Myers Squibb pharmacovigilance database (N = 41), including 22 previously unpublished cases, were examined for previous treatments for leukemia, patient characteristics, time to PAH onset, and outcomes. Our analysis shows that compared with PAH due to other etiologies, dasatinib-related PAH is atypical, in that it is associated with partial to complete reversibility upon treatment discontinuation. The incidence of dasatinib-related PAH appears to be low. Most PAH cases were observed in patients who had received prior treatments for leukemia. No specific patient attributes appear to be associated with an increased risk of developing PAH while receiving dasatinib. Symptoms of PAH in dasatinib-treated leukemia patients should prompt a thorough workup, including consideration of confirmatory right-heart catheterization. In cases of confirmed PAH, dasatinib should be discontinued. PMID:26284693

  9. Clinical and radiological features of nonfamilial cherubism: A case report

    PubMed Central

    Wagel, Justyna; ?uczak, Klaudiusz; Hendrich, Barbara; Guzi?ski, Maciej; S?siadek, Marek

    2012-01-01

    Summary Background: Cherubism is an uncommon hereditary benign fibro-osseous disorder characterized by bilateral enlargement of the mandible and the maxilla that presents with varying degrees of involvement and a tendency toward spontaneous remission. On radiography cherubic lesions appear as cystic multilocular radiolucencies limited to the jaw bones. Case Report: A 5-year-old boy was referred to the Department of Maxillo-Facial Surgery due to deformation of the lower and middle section of the face and displacement or absence of teeth. A panoramic radiograph and a computed tomography revealed extensive multilocular, bilateral radiolucent areas and marked bony expansion in the mandible and maxilla, with sparing of the mandibular condyles. Histopathological evaluation of an incisional biopsy of the left maxilla and genotypic characterization confirmed the diagnosis of cherubism. Conclusions: The radiologic characteristics of cherubism are not pathognomonic but the diagnosis is strongly suggested by bilateral relatively symmetric jaw involvement that is limited to the jaw bones and, together with clinical and histopathologic findings, enables the diagnosis of cherubism. Genotypic characterization confirms the diagnosis. PMID:23049582

  10. Clinical features of human intestinal capillariasis in Taiwan.

    PubMed

    Bair, Ming-Jong; Hwang, Kao-Pin; Wang, Tsang-En; Liou, Tai-Cherng; Lin, Shee-Chan; Kao, Chin-Roa; Wang, Tao-Yeuan; Pang, Kwok-Kuen

    2004-08-15

    Human intestinal capillariasis is a rare parasitosis that was first recognized in the Philippines in the 1960 s. Parasitosis is a life threatening disease and has been reported from Thailand, Japan, South of Taiwan (Kaoh-Siung), Korea, Iran, Egypt, Italy and Spain. Its clinical symptoms are characterized by chronic diarrhea, abdominal pain, borborygmus, marked weight loss, protein and electrolyte loss and cachexia. Capillariasis may be fatal if early treatment is not given. We reported 14 cases living in rural areas of Taiwan. Three cases had histories of travelling to Thailand. They might have been infected in Thailand while stayed there. Two cases had the diet of raw freshwater fish before. Three cases received emergency laparotomy due to peritonitis and two cases were found of enteritis cystica profunda. According to the route of transmission, freshwater and brackish-water fish may act as the intermediate host of the parasite. The most simple and convenient method of diagnosing capillariasis is stool examination. Two cases were diagnosed by histology. Mebendazole or albendezole 200 mg orally twice a day for 20-30 d is the treatment of choice. All the patients were cured, and relapses were not observed within 12 mo. PMID:15285025

  11. Traumatic optic neuropathy—Clinical features and management issues

    PubMed Central

    Yu-Wai-Man, Patrick

    2015-01-01

    Traumatic optic neuropathy (TON) is an uncommon cause of visual loss following blunt or penetrating head trauma, but the consequences can be devastating, especially in cases with bilateral optic nerve involvement. Although the majority of patients are young adult males, about 20% of cases occur during childhood. A diagnosis of TON is usually straightforward based on the clinical history and examination findings indicative of an optic neuropathy. However, the assessment can be difficult when the patient’s mental status is impaired owing to severe trauma. TON frequently results in profound loss of central vision, and the final visual outcome is largely dictated by the patient’s baseline visual acuities. Other poor prognostic factors include loss of consciousness, no improvement in vision after 48 hours, the absence of visual evoked responses, and evidence of optic canal fractures on neuroimaging. The management of TON remains controversial. Some clinicians favor observation alone, whereas others opt to intervene with systemic steroids, surgical decompression of the optic canal, or both. The evidence base for these various treatment options is weak, and the routine use of high-dose steroids or surgery in TON is not without any attendant risks. There is a relatively high rate of spontaneous visual recovery among patients managed conservatively, and the possible adverse effects of intervention therefore need to be even more carefully considered in the balance. PMID:26052483

  12. [Clinical features of solid malignant tumors in childhood].

    PubMed

    Koshinaga, Tsugumichi; Ohashi, Kensuke; Sugitou, Kiminobu; Ikeda, Tarou

    2013-07-01

    The pathogenesis of pediatric malignant tumors is associated with congenital abnormalities. Oncogenes and antioncogenes are identified in some of these cases. Neuroblastoma arises from the adrenal medulla and sympathetic ganglia. Most neuroblastomas produce catecholamine. Urinary vanillylmandelic acid(VMA)and homovanillic acid(HVA), metabolites of catecholamine, are sensitive tumor markers. Risk stratification according to tumor stage and a combination of prognostic factors helps determine the appropriate therapeutic strategy in clinical settings. Nephroblastoma(Wilms tumor)is the most common pediatric renal tumor and is often accompanied by congenital anomalies. Surgical resection of the tumor and the involved kidney is the initial treatment recommendation in the US and Japan. Consecutive chemotherapy and radiotherapy are administered after surgical staging and a definite histopathological diagnosis. Prognosis is relatively good for most nephroblastoma cases with a favorable histology. In addition to nephroblastoma, clear cell sarcoma of the kidney, characterized by a tendency to metastasize to the bone, is a renal tumor with poor prognosis. Rhabdoid tumor of the kidney is another tumor type; however, its pathogenesis is still unknown and it is associated with extremely poor prognosis because of the lack of effective therapeutic measures. Hepatoblastoma is the most common malignant liver tumor. The serum alpha-fetoprotein level is the most effective tumor marker. Complete surgical resection of the involved liver lobe is the definitive approach for cure. Preoperative chemotherapy increases the possibility of complete surgical resection. High-risk patients have a poor prognosis. PMID:23863721

  13. Clinical Features and Endovascular Management of Iliac Artery Fibromuscular Dysplasia

    PubMed Central

    Ketha, Siva S.; Bjarnason, Haraldur; Oderich, Gustavo S.; Misra, Sanjay

    2014-01-01

    Purpose To identify the spectrum of clinical presentation of iliac artery fibromuscular dysplasia (FMD) and to evaluate the outcomes of endovascular management of iliac FMD for claudication. Methods and materials All patients in our institution with a diagnosis of FMD between January 1980 and December 2010 were identified. 14 patients were found to have FMD of the iliac arteries. Associated risk factors included hypertension (79%), hyperlipidemia (64%), smoking history (36%), coronary artery disease (21%), diabetes (0 %), and obesity (36%). Results Eight (57%) patients were incidentally found to have iliac FMD on imaging. 6 (43%) patients had life style limiting claudication involving one or both extremities. All 6 patients were reported as mild peripheral arterial disease (PAD) based on ankle brachial index (ABI) measurements (0.7 to 0.9). These six patients underwent 10 endovascular procedures for claudication including angioplasty (n=8) and self-expanding stent placement (n=2). Mean symptom free survival was 56.3 months. Conclusion Iliac FMD may be found incidentally or may present with disabling claudication that is amenable to endovascular treatment. PMID:24768236

  14. Clinical Features Associated with Frozen Shoulder Syndrome in Parkinson's Disease

    PubMed Central

    Chang, Ya-Ting; Chang, Wen-Neng; Tsai, Nai-Wen; Cheng, Kuei-Yueh; Huang, Chih-Cheng; Kung, Chia-Te; Su, Yu-Jih; Lin, Wei-Che; Cheng, Ben-Chung; Su, Chih-Min; Chiang, Yi-Fang; Lu, Cheng-Hsien

    2015-01-01

    Background. Frozen shoulder syndrome is a common musculoskeletal disease of idiopathic Parkinson's disease (PD) that causes long-term pain and physical disability. A better understanding of the associated factors can help identify PD patients who will require prevention to improve their quality of life. Methodology. This prospective study evaluated 60 shoulders of 30 PD patients. Correlation analysis was used to evaluate the relationships between clinical factors and shoulder sonography findings. Results. Frozen shoulder syndrome was found in 14 of 30 PD patients affecting 19 shoulders, including bilateral involvement in five and unilateral involvement in nine. There was a significant positive correlation between the parameters of sonography findings and frozen shoulder syndrome (i.e., thickness of bicipital effusion and tendon thickness of the subscapularis and supraspinatus) and mean ipsilateral Unified Parkinson's Disease Rating Scale (UPDRS) III and its subscores (tremor, rigidity, and bradykinesia scores). Conclusions. Higher ipsilateral UPDRS and subscores are associated with increased effusion around the biceps tendon, with increased tendon thickness of subscapularis and supraspinatus. Preventing frozen shoulder syndrome in the high-risk PD group is an important safety issue and highly relevant for their quality of life. PMID:26180653

  15. Clinical features of idiopathic preretinal macular fibrosis. Schoenberg Lecture.

    PubMed

    Wise, G N

    1975-03-01

    Of 150 consecutive cases of preretinal macular fibrosis that occurred predominantly in older subjects, 118 cases involved only one eye while 32 occurred binocularly. The ratio of women to men was 3:2. Visual acuity was usually 20/50 or better, and only four of 178 eyes had acuity below 20/200. The vast majority of lesions involved the macula and few extended outside the macular zone. The characteristic clinical finding on ophthalmoscopy was a glinting reflex probably due to a layer of connective tissue cells lying on the internal limiting membrane. Small white exudates, venous abnormalities, and occasional hemorrhages may also be part of prepretinal macular fibrosis. Amsler grid testing usually demonstrated irregularity and distortion of some part of the grid. Fluorescein angiography revealed a characteristic tortuosity of the small macular vessels. Most eyes had previous posterior vitreous detachments but, except for one possible case, there were no cases where the posterior vitreous body was adherent to either the retinal membrane or the macular region. There was no significant systemic disease related to preretinal macular fibrosis. In most instances, preretinal macular fibrosis either was stationary or slowly progressive. The etiology and treatment of the condition remains obscure. PMID:1121990

  16. Clinical Features and Causes of Endogenous Hyperinsulinemic Hypoglycemia in Korea

    PubMed Central

    Woo, Chang-Yun; Jeong, Ji Yun; Jang, Jung Eun; Leem, Jaechan; Jung, Chang Hee; Koh, Eun Hee; Lee, Woo Je; Kim, Min-Seon; Park, Joong-Yeol; Lee, Jung Bok

    2015-01-01

    Background Endogenous hyperinsulinemic hypoglycemia (EHH) is characterized by an inappropriately high plasma insulin level, despite a low plasma glucose level. Most of the EHH cases are caused by insulinoma, whereas nesidioblastosis and insulin autoimmune syndrome (IAS) are relatively rare. Methods To evaluate the relative frequencies of various causes of EHH in Korea, we retrospectively analyzed 84 patients who were diagnosed with EHH from 1998 to 2012 in a university hospital. Results Among the 84 EHH patients, 74 patients (88%), five (6%), and five (6%) were diagnosed with insulinoma, nesidioblastosis or IAS, respectively. The most common clinical manifestation of EHH was neuroglycopenic symptoms. Symptom duration before diagnosis was 14.5 months (range, 1 to 120 months) for insulinoma, 1.0 months (range, 6 days to 7 months) for nesidioblastosis, and 2.0 months (range, 1 to 12 months) for IAS. One patient, who was diagnosed with nesidioblastosis in 2006, underwent distal pancreatectomy but was later determined to be positive for insulin autoantibodies. Except for one patient who was diagnosed in 2007, the remaining three patients with nesidioblastosis demonstrated severe hyperinsulinemia (157 to 2,719 µIU/mL), which suggests that these patients might have had IAS, rather than nesidioblastosis. Conclusion The results of this study suggest that the prevalence of IAS may be higher in Korea than previously thought. Therefore, measurement of insulin autoantibody levels is warranted for EHH patients, especially in patients with very high plasma insulin levels. PMID:25922806

  17. Actinomycosis: etiology, clinical features, diagnosis, treatment, and management

    PubMed Central

    Valour, Florent; Sénéchal, Agathe; Dupieux, Céline; Karsenty, Judith; Lustig, Sébastien; Breton, Pierre; Gleizal, Arnaud; Boussel, Loïc; Laurent, Frédéric; Braun, Evelyne; Chidiac, Christian; Ader, Florence; Ferry, Tristan

    2014-01-01

    Actinomycosis is a rare chronic disease caused by Actinomyces spp., anaerobic Gram-positive bacteria that normally colonize the human mouth and digestive and genital tracts. Physicians must be aware of typical clinical presentations (such as cervicofacial actinomycosis following dental focus of infection, pelvic actinomycosis in women with an intrauterine device, and pulmonary actinomycosis in smokers with poor dental hygiene), but also that actinomycosis may mimic the malignancy process in various anatomical sites. Bacterial cultures and pathology are the cornerstone of diagnosis, but particular conditions are required in order to get the correct diagnosis. Prolonged bacterial cultures in anaerobic conditions are necessary to identify the bacterium and typical microscopic findings include necrosis with yellowish sulfur granules and filamentous Gram-positive fungal-like pathogens. Patients with actinomycosis require prolonged (6- to 12-month) high doses (to facilitate the drug penetration in abscess and in infected tissues) of penicillin G or amoxicillin, but the duration of antimicrobial therapy could probably be shortened to 3 months in patients in whom optimal surgical resection of infected tissues has been performed. Preventive measures, such as reduction of alcohol abuse and improvement of dental hygiene, may limit occurrence of pulmonary, cervicofacial, and central nervous system actinomycosis. In women, intrauterine devices must be changed every 5 years in order to limit the occurrence of pelvic actinomycosis. PMID:25045274

  18. [Vasculitic Peripheral Neuropathies: Clinical Features and Diagnostic Laboratory Tests].

    PubMed

    Ogata, Katsuhisa

    2016-03-01

    Vasculitic peripheral neuropathy (VPN) occurs due to ischemic changes of peripheral nerves, resulting from a deficit of vascular blood supply due to damaged vasa nervorum leading to vasculitis. VPN usually manifests as sensorimotor or sensory disturbances accompanied by pain, presenting as a type of multiple mononeuropathy, with a scattered distribution in distal limbs. VPN may also present as a mononeuropathy, distal symmetric polyneuropathy, plexopathy, or radiculopathy. The rapidity of VPN is variable, ranging from days to months, with symptoms occasionally changing with the appearance of new lesions. Careful history taking and neurological examination provides an exact diagnosis. The most common cause of VPN is primary vasculitis predominantly affecting small vessels, including vasa nervorum, anti-neutrophil cytoplasmic antibody (ANCA)-associated vasculitis, and polyarteritis nodosa. Similar vasculitic processes can also result from a systemic collagen disorder or secondary vasculitis. Electrophysiological studies and pathological investigation of biopsied peripheral nerves and muscles are important for diagnosis of vasculitis. Serological tests, including ANCA, are useful for diagnosis of vasculitis. Accurate neurological examinations are essential for diagnosis and evaluation of clinical course. PMID:27001769

  19. Genetic and clinical features of p450 oxidoreductase deficiency.

    PubMed

    Scott, Rachel R; Miller, Walter L

    2008-01-01

    P450 oxidoreductase (POR) deficiency is an autosomal recessive disorder of steroidogenesis with multiple clinical manifestations. POR is the electron donor for all microsomal P450 enzymes, including the three steroidogenic enzymes P450c17 (17alpha-hydroxylase/17,20-lyase), P450c21 (21-hydroxylase), and P450aro (aromatase). Since the first description of POR mutations in 2004, about 50 patients have been reported. Serum steroid profiles indicate partial deficiencies in 21-hydroxylase, 17alpha-hydroxylase and 17,20-lyase. The 17-OH progesterone levels are elevated, as in 21-hydroxylase deficiency, while androgen levels are low; cortisol may be normal but is poorly responsive to adrenocorticotropic hormone. Most patients also have associated skeletal malfor- mations (craniosynostosis, radio-ulnar synostosis, midface hypoplasia, bowed femora) termed Antley-Bixler syndrome. Antley-Bixler syndrome with normal steroidogenesis is caused by autosomal dominant gain-of-function mutations in fibroblast growth factor receptor 2. Males with POR deficiency are often undervirilized, while females can be virilized. The prognosis for patients with POR deficiency appears to depend on the severity of the bony malformations and their timely treatment. The potential impact of POR mutations on drug metabolism by other hepatic P450 enzymes requires further investigation. Given the varied physical and biochemical phenotype of POR deficiency and the risk of adrenal insufficiency, clinicians should be alert to this potential diagnosis. PMID:18259105

  20. Metabolic brain imaging correlated with clinical features of brain tumors

    SciTech Connect

    Alavi, J.; Alavi, A.; Dann, R.; Kushner, M.; Chawluk, J.; Powlis, W.; Reivich, M.

    1985-05-01

    Nineteen adults with brain tumors have been studied with positron emission tomography utilizing FDG. Fourteen had biopsy proven cerebral malignant glioma, one each had meningioma, hemangiopericytoma, primitive neuroectodermal tumor (PNET), two had unbiopsied lesions, and one patient had an area of biopsy proven radiation necrosis. Three different patterns of glucose metabolism are observed: marked increase in metabolism at the site of the known tumor in (10 high grade gliomas and the PNET), lower than normal metabolism at the tumor (in 1 grade II glioma, 3 grade III gliomas, 2 unbiopsied low density nonenhancing lesions, and the meningioma), no abnormality (1 enhancing glioma, the hemangiopericytoma and the radiation necrosis.) The metabolic rate of the tumor or the surrounding brain did not appear to be correlated with the history of previous irradiation or chemotherapy. Decreased metabolism was frequently observed in the rest of the affected hemisphere and in the contralateral cerebellum. Tumors of high grade or with enhancing CT characteristics were more likely to show increased metabolism. Among the patients with proven gliomas, survival after PETT scan tended to be longer for those with low metabolic activity tumors than for those with highly active tumors. The authors conclude that PETT may help to predict the malignant potential of tumors, and may add useful clinical information to the CT scan.

  1. Antibody specificity and related clinical features in antiphospholipid syndrome.

    PubMed

    Kaburaki, J

    2001-06-01

    Abstract The concept of antiphospholipid syndrome (APS) has been widely accepted. Antiphospholipid antibodies originally included anticardiolipin antibodies and lupus anticoagulants. However, recent advances have shown that most pathogenic antiphospholipid antibodies are directed to phospholipid binding proteins such as ?2-glycoprotein I (?2-GPI) and prothrombin. Other candidates for antigens of so-called antiphospholipid antibodies are protein C, protein S, factor V, factor X, annexin V, high and low molecular weight kininogens, and complex with ?2-GPI and oxidized low-density lipoprotein (LDL). These autoantibodies directed to different phospholipid binding proteins are present in the blood stream, and contribute to triggering procoagulant effects on endothelial cells and platelets, leading to thrombosis. The heterogeneity of these antiphospholipid antibodies appears to explain various clinical manifestations in patients with APS. The preliminary classification criteria for definite APS and a general management policy have been proposed, although successful treatment of patients with antiphospholipid antibodies have only been shown by retrospective studies. Further prospective investigations are required to confirm the diagnostic and therapeutic criteria for patients with APS. PMID:24383686

  2. Psychogenic Facial Movement Disorders: Clinical Features and Associated Conditions

    PubMed Central

    Fasano, Alfonso; Valadas, Anabela; Bhatia, Kailash P; Prashanth, LK; Lang, Anthony E; Munhoz, Renato P; Morgante, Francesca; Tarsy, Daniel; Duker, Andrew P; Girlanda, Paolo; Bentivoglio, Anna Rita; Espay, Alberto J

    2012-01-01

    The facial phenotype of psychogenic movement disorders has not been fully characterized. Seven tertiary-referral movement disorders centers using a standardized data collection on a computerized database performed a retrospective chart review of psychogenic movement disorders involving the face. Patients with organic forms of facial dystonia or any medical or neurological disorder known to affect facial muscles were excluded. Sixty-one patients fulfilled the inclusion criteria for psychogenic facial movement disorders (91.8% females; age: 37.0 ± 11.3 years). Phasic or tonic muscular spasms resembling dystonia were documented in all patients most commonly involving the lips (60.7%), followed by eyelids (50.8%), perinasal region (16.4%), and forehead (9.8%). The most common pattern consisted of tonic, sustained, lateral, and/or downward protrusion of one side of the lower lip with ipsilateral jaw deviation (84.3%). Ipsi- or contralateral blepharospasm and excessive platysma contraction occurred in isolation or combined with fixed lip dystonia (60.7%). Spasms were reported as painful in 24.6% of cases. Symptom onset was abrupt in most cases (80.3%), with at least 1 precipitating psychological stress or trauma identified in 57.4%. Associated body regions involved included upper limbs (29.5%), neck (16.4%), lower limbs (16.4%), and trunk (4.9%). There were fluctuations in severity and spontaneous exacerbations and remissions (60%). Prevalent comorbidities included depression (38.0%) and tension headache (26.4%). Fixed jaw and/or lip deviation is a characteristic pattern of psychogenic facial movement disorders, occurring in isolation or in combination with other psychogenic movement disorders or other psychogenic features. © 2012 Movement Disorder Society PMID:23033125

  3. Recognizing clinical entities in hospital discharge summaries using Structural Support Vector Machines with word representation features

    PubMed Central

    2013-01-01

    Background Named entity recognition (NER) is an important task in clinical natural language processing (NLP) research. Machine learning (ML) based NER methods have shown good performance in recognizing entities in clinical text. Algorithms and features are two important factors that largely affect the performance of ML-based NER systems. Conditional Random Fields (CRFs), a sequential labelling algorithm, and Support Vector Machines (SVMs), which is based on large margin theory, are two typical machine learning algorithms that have been widely applied to clinical NER tasks. For features, syntactic and semantic information of context words has often been used in clinical NER systems. However, Structural Support Vector Machines (SSVMs), an algorithm that combines the advantages of both CRFs and SVMs, and word representation features, which contain word-level back-off information over large unlabelled corpus by unsupervised algorithms, have not been extensively investigated for clinical text processing. Therefore, the primary goal of this study is to evaluate the use of SSVMs and word representation features in clinical NER tasks. Methods In this study, we developed SSVMs-based NER systems to recognize clinical entities in hospital discharge summaries, using the data set from the concept extration task in the 2010 i2b2 NLP challenge. We compared the performance of CRFs and SSVMs-based NER classifiers with the same feature sets. Furthermore, we extracted two different types of word representation features (clustering-based representation features and distributional representation features) and integrated them with the SSVMs-based clinical NER system. We then reported the performance of SSVM-based NER systems with different types of word representation features. Results and discussion Using the same training (N = 27,837) and test (N = 45,009) sets in the challenge, our evaluation showed that the SSVMs-based NER systems achieved better performance than the CRFs-based systems for clinical entity recognition, when same features were used. Both types of word representation features (clustering-based and distributional representations) improved the performance of ML-based NER systems. By combining two different types of word representation features together with SSVMs, our system achieved a highest F-measure of 85.82%, which outperformed the best system reported in the challenge by 0.6%. Our results show that SSVMs is a great potential algorithm for clinical NLP research, and both types of unsupervised word representation features are beneficial to clinical NER tasks. PMID:23566040

  4. Clinical and imaging features of mixed Alzheimer and vascular pathologies.

    PubMed

    Chui, Helena C; Ramirez-Gomez, Liliana

    2015-01-01

    The co-occurrence of both Alzheimer disease (AD) pathology and vascular brain injury (VBI) is very common, especially amongst the oldest of old. In neuropathologic studies, the prevalence of AD, VBI, and mixed AD/VBI lesions ranks ahead of Lewy bodies and hippocampal sclerosis. In the modern era of structural magnetic resonance imaging (MRI) and amyloid positron emission tomography (PET) imaging, this review examines 1) the prevalence of mixed AD and VBI pathology, 2) the significance of these pathologies for cognitive impairment (AD and vascular cognitive impairment (VCI)), and 3) the diagnosis and treatment of mixed AD/VCI. Although epidemiologic studies report that vascular risk factors for arteriosclerosis increase the risk of incident AD, both autopsy and amyloid PET studies indicate that AD and VBI contribute additively, but independently, to the risk of dementia. The literature confirms the malignancy of AD and highlights the adverse effects of microinfarcts on cognitive function. For the clinical diagnosis of mixed AD/VCI, the presence of AD can be recognized by neuropsychological profile, structural imaging, cerebrospinal fluid biomarkers, and glucose PET and amyloid PET imaging. The diagnosis of VBI, however, still hinges predominantly on the structural MRI findings. Severe amnesia and atrophy of the hippocampus are characteristic of early AD, whereas the cognitive profile for VCI is highly variable and dependent on size and location of VBI. The cognitive profile of mixed AD/VBI is dominated by AD. With the notable exception of microinfarcts (which elude in vivo detection), infarcts, hemorrhages, and white matter hyperintensities on structural MRI currently represent the best markers for the presence VBI. Better markers that reflect the health and reactivity of intracerebral blood vessels are needed. For prevention and treatment, the type of underlying cerebrovascular disease (for example, arteriosclerosis or cerebral amyloid angiopathy) should be considered. It is likely that reduction of vascular risk factors for arteriosclerosis can significantly reduce vascular contributions to mixed dementia. PMID:25722748

  5. Splenic abscess: clinical features, microbiologic finding, treatment and outcome.

    PubMed

    Sangchan, Apichat; Mootsikapun, Piroon; Mairiang, Pisaln

    2003-05-01

    Splenic abscess is a rare clinical entity but may be underreported. A retrospective study at Srinagarind Hospital revealed 60 cases of splenic abscess between 1992 and 2001. The causative organisms were identified in 41 cases (68.3%). Gram negative bacilli were commonly isolated and Burkholderia pseudomallei was the most predominant. Diabetes mellitus and leukemia were common underlying diseases found in 46.3 per cent and 9.7 per cent of culture confirmed cases, respectively. The patients usually presented with fever, left upper quadrant pain, tenderness and splenomegaly. Multiple abscesses were more commonly found in the melioidosis than in the non-melioidosis group (p = 0.032), but a single abscess was more commonly found in the non-melioidosis than in the melioidosis group (p = 0.032). Concurrent liver abscesses, often multiple, were not different in both groups. Antimicrobials alone were given in 66.7 per cent of cases with melioidosis and 64.7 per cent of non-melioidosis group. Splenectomy and percutaneous aspiration were performed only in 29.3 per cent and 4.9 per cent of cases with splenic abscess. The overall mortality rate of splenic abscess was only 4.9 per cent in the present series. In conclusion, splenic abscess is not uncommon. Burkholderia pseudomalleli is the most common causative agent found in the present series. Therefore, it should be targeted in the initial empirical antibiotic therapy before the culture results are available especially when multiple lesions in the spleen and concurrent multiple liver abscesses are seen. Prolonged treatment with appropriate antimicrobials alone is usually effective. Splenectomy and/or aspiration may be useful in selected patients. PMID:12859100

  6. Underactive Bladder: Clinical Features, Urodynamic Parameters, and Treatment

    PubMed Central

    Hoag, Nathan; Gani, Johan

    2015-01-01

    Purpose: Underactive bladder is a complex clinical condition that remains poorly understood due to limited literature. This study aimed to determine its prevalence among patients with voiding dysfunction, presenting symptoms, risk factors, urodynamic findings, and ongoing treatment. Methods: A retrospective chart review of consecutive urodynamic studies performed on voiding dysfunction between 2012 and 2014 was conducted to identify patients with detrusor underactivity. Detrusor underactivity was defined by a bladder contractility index of less than 100. Charts and urodynamic tracings were examined for patient demographics, suspected risk factors, presenting symptoms, urodynamic parameters, and treatment undertaken. Descriptive statistics were utilized to analyze the data. Results: The prevalence of detrusor underactivity in this study was 23% (79 of 343). Average age of the patients was 59.2 years (range, 19–90 years). Women represented 68.4% (54 of 79) of the patients. The most common reported symptoms were urinary urgency (63.3%), weak stream (61.0%), straining (57.0%), nocturia (48.1%), and urinary frequency (46.8%). Prior pelvic surgery and prior back surgery were noted in 40.5% and 19.0% of the patients, respectively. The most common management was intermittent self-catheterization in 54.4%, followed by observation/conservative treatment in 25.3% and sacral neuromodulation in 12.7%. Conclusions: Although underactive bladder is a common condition, its precise diagnosis and treatment remain a challenge. Its symptoms significantly overlap with those of other bladder disorders, and hence, urodynamic evaluation is particularly useful in identifying patients with impaired detrusor contractility. This will help prevent mismanagement of patients with surgery or medical therapy, as that may worsen their condition. Much work needs to be done to better understand this condition and establish optimal management of patients. PMID:26620901

  7. Screening of effective pharmacological treatments for MELAS syndrome using yeasts, fibroblasts and cybrid models of the disease

    PubMed Central

    Garrido-Maraver, Juan; Cordero, Mario D; Moñino, Irene Domínguez; Pereira-Arenas, Sheila; Lechuga-Vieco, Ana V; Cotán, David; De la Mata, Mario; Oropesa-Ávila, Manuel; De Miguel, Manuel; Bautista Lorite, Juan; Rivas Infante, Eloy; Álvarez-Dolado, Manuel; Navas, Plácido; Jackson, Sandra; Francisci, Silvia; Sánchez-Alcázar, José A

    2012-01-01

    BACKGROUND AND PURPOSE MELAS (mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes) is a mitochondrial disease most usually caused by point mutations in tRNA genes encoded by mitochondrial DNA (mtDNA). Approximately 80% of cases of MELAS syndrome are associated with a m.3243A > G mutation in the MT-TL1 gene, which encodes the mitochondrial tRNALeu (UUR). Currently, no effective treatments are available for this chronic progressive disorder. Treatment strategies in MELAS and other mitochondrial diseases consist of several drugs that diminish the deleterious effects of the abnormal respiratory chain function, reduce the presence of toxic agents or correct deficiencies in essential cofactors. EXPERIMENTAL APPROACH We evaluated the effectiveness of some common pharmacological agents that have been utilized in the treatment of MELAS, in yeast, fibroblast and cybrid models of the disease. The yeast model harbouring the A14G mutation in the mitochondrial tRNALeu(UUR) gene, which is equivalent to the A3243G mutation in humans, was used in the initial screening. Next, the most effective drugs that were able to rescue the respiratory deficiency in MELAS yeast mutants were tested in fibroblasts and cybrid models of MELAS disease. KEY RESULTS According to our results, supplementation with riboflavin or coenzyme Q10 effectively reversed the respiratory defect in MELAS yeast and improved the pathologic alterations in MELAS fibroblast and cybrid cell models. CONCLUSIONS AND IMPLICATIONS Our results indicate that cell models have great potential for screening and validating the effects of novel drug candidates for MELAS treatment and presumably also for other diseases with mitochondrial impairment. PMID:22747838

  8. The Noonan Syndrome--A Review of the Clinical and Genetic Features of 27 Cases

    ERIC Educational Resources Information Center

    Collins, Edith; Turner, Gillian

    1973-01-01

    Reviewed were clinical and genetic features of 27 cases of the Noonan Syndrome, a condition with characteristics such as webbing of the neck, short stature, frequent congential heart lesions, and chromosomal irregularities. (DB)

  9. Geology of a Proposed MER Landing Site in Western Melas Chasma

    NASA Technical Reports Server (NTRS)

    Weitz, C. M.; Parker, T. J.; Anderson, F. S.; Grant, J. A.

    2002-01-01

    A proposed landing site for the Mars Exploration Rover (MER) has been identified in western Melas Chasma. The landing ellipse contains a blocky, bright deposit which we propose formed as a landslide, perhaps beneath a former lake. Additional information is contained in the original extended abstract.

  10. Advances in the Treatment of MELAS Syndrome: Could Cognitive Rehabilitation Have a Role?

    PubMed

    De Luca, Rosaria; Russo, Margherita; Leonardi, Simona; Spadaro, Letteria; Cicero, Cettina; Naro, Antonino; Bramanti, Placido; Calabrò, Rocco Salvatore

    2016-01-01

    Mitochondrial encephalomyopathy, lactic acidosis, and strokelike episodes syndrome (MELAS) is a rare inherited mitochondrial disorder, commonly due to the m.3243A>G mutation, which typically presents with seizures, headaches, and acute neurological stroke-mimicking deficits. At onset, there is often no general intellectual deterioration in these patients, although specific cognitive deficits in peculiar language domains, visual construction, attention, abstraction, or flexibility may be present. To date, there is no evidence for an effective treatment in individuals with MELAS. Herein, we describe the case of young woman affected by MELAS who underwent an intensive cognitive training by means of the following methods: (a) traditional cognitive training, (b) computerized cognitive training (CCT), and (c) CCT plus a low-intensity aerobic motor exercise. We compared her cognitive and psychological profile at baseline (T0) and at the end of each training (i.e., (Time 1, Time 2, and Time 3 [T3]) using a proper psychometric battery, and we found a greater improvement at T3. Our findings support the idea that the combined CCT with motor training could represent a valuable therapeutic opportunity in MELAS. PMID:26391741

  11. Validating tyrosinase homologue MelA as a photoacoustic reporter gene for imaging Escherichia coli

    NASA Astrophysics Data System (ADS)

    Paproski, Robert J.; Li, Yan; Barber, Quinn; Lewis, John D.; Campbell, Robert; Zemp, Roger

    2015-03-01

    Antibiotic drug resistance is a major worldwide issue. Development of new therapies against pathogenic bacteria requires appropriate research tools for replicating and characterizing infections. Previously fluorescence and bioluminescence modalities have been used to image infectious burden in animal models but scattering significantly limits imaging depth and resolution. We hypothesize that photoacoustic imaging, which has improved depth-toresolution ratio, could be useful for visualizing MelA-expressing bacteria since MelA is a bacterial tyrosinase homologue involved in melanin production. Using an inducible expression system, E. coli expressing MelA were visibly black in liquid culture. Phosphate buffered saline (PBS), MelA-expressing bacteria (at different dilutions in PBS), and chicken embryo blood were injected in plastic tubes which were imaged using a VisualSonics Vevo LAZR system. Photoacoustic imaging at 6 different wavelengths (680, 700, 750, 800, 850 and 900nm) enabled spectral de-mixing to distinguish melanin signals from blood. The signal to noise ratio of 9x diluted MelA bacteria was 55, suggesting that ~20 bacteria cells could be detected with our system. When MelA bacteria were injected as a 100 μL bolus into a chicken embryo, photoacoustic signals from deoxy- and oxy- hemoglobin as well as MelA-expressing bacteria could be separated and overlaid on an ultrasound image, allowing visualization of the bacterial location. Photoacoustic imaging may be a useful tool for visualizing bacterial infections and further work incorporating photoacoustic reporters into infectious bacterial strains is warranted.

  12. Glucose metabolism derangements in adults with the MELAS m.3243A>G mutation.

    PubMed

    El-Hattab, Ayman W; Emrick, Lisa T; Hsu, Jean W; Chanprasert, Sirisak; Jahoor, Farook; Scaglia, Fernando; Craigen, William J

    2014-09-01

    The m.3243A>G mutation in the mitochondrial gene MT-TL1 leads to a wide clinical spectrum ranging from asymptomatic carriers to MELAS (mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes) at the severe end. Diabetes mellitus (DM) occurs in mitochondrial diseases, with the m.3243A>G mutation being the most common mutation associated with mitochondrial DM. The pathogenesis of mitochondrial DM remains largely unknown, with previous studies suggesting that impaired insulin secretion is the major factor. In this study we used stable isotope infusion techniques to assess glucose metabolism in vivo and under physiological conditions in 5 diabetic and 11 non-diabetic adults with the m.3243A>G mutation and 10 healthy adult controls. Our results revealed increased glucose production due to increased gluconeogenesis in both diabetic and non-diabetic subjects with the m.3243A>G mutation. In addition, diabetic subjects demonstrated insulin resistance and relative insulin deficiency, resulting in an inability to increase glucose oxidation which can explain the development of DM in these subjects. Non-diabetic subjects showed normal insulin sensitivity; and therefore, they were able to increase their glucose oxidation rate. The ability to increase glucose utilization can act as a compensatory mechanism that explains why these subjects do not have DM despite the higher rate of glucose production. These results suggest that increased gluconeogenesis is not enough to cause DM and the occurrence of combined insulin resistance and relative insulin deficiency are needed to develop DM in individuals with the m.3243A>G mutation. Therefore, multiple defects in insulin and glucose metabolism are required for DM to occur in individuals with mitochondrial diseases. The results of this study uncover previously undocumented alterations in glucose metabolism in individuals with the m.3243A>G mutation that contribute significantly to our understanding of the pathogenesis of mitochondrial DM and can have significant implications for its management. PMID:25086207

  13. [Psychopathology and clinical features of oneiroid-catatonic conditions during endogenous diseases].

    PubMed

    Alekseeva, A G

    2011-01-01

    Psychopathology and clinical features of oneiroid-catatonic conditions during endogenous diseases remain a topical problem in modem psychiatry. The author describes psychopathologcal features of oneiroid depending on the form of the affect and presents new data on its relation to peculiarities of the development of attacks. PMID:21674923

  14. Clinical-Epidemiological Features of 13 Cases of Melioidosis in Brazil

    PubMed Central

    Bandeira, Tereza J. P. G.; Cordeiro, Rossana A.; Grangeiro, Thalles B.; Lima, Rita A. C.; Ribeiro, Joyce F.; Castelo-Branco, Débora S. C. M.; Rodrigues, Jorge L. N.; Coelho, Ivo C. B.; Magalhães, Francisco G.; Rocha, Marcos F. G.; Sidrim, José J. C.

    2012-01-01

    The aim of this work was to catalog the clinical and ecoepidemiological characteristics of melioidosis in Brazil. The clinical-epidemiological features of melioidosis in Ceará are similar to those in other regions where the disease is endemic. These findings support the inclusion of this Brazilian state as part of the zone of endemicity for melioidosis. PMID:22814457

  15. Fluent Versus Nonfluent Primary Progressive Aphasia: A Comparison of Clinical and Functional Neuroimaging Features

    ERIC Educational Resources Information Center

    Clark, D.G.; Charuvastra, A.; Miller, B.L.; Shapira, J.S.; Mendez, M.F.

    2005-01-01

    To better characterize fluent and nonfluent variants of primary progressive aphasia (PPA). Although investigators have recognized both fluent and nonfluent patients with PPA (Mesulam, 2001), the clinical and neuroimaging features of these variants have not been fully defined. We present clinical and neuropsychological data on 47 PPA patients…

  16. Clinical Approach to Parkinson's Disease: Features, Diagnosis, and Principles of Management

    PubMed Central

    Massano, João; Bhatia, Kailash P.

    2012-01-01

    Parkinson's disease (PD) is one of the most common neurodegenerative disorders. The condition causes a heavy burden both on those affected, as well as their families. Accurate diagnosis is critical and remains founded on clinical grounds as no specific diagnostic test is available so far. The clinical picture of PD is typical in many instances; however, features distinguishing it from other disorders should be thoroughly sought. Monogenic forms of PD also have some distinctive characteristics in many cases. This text is a roadmap to accurate diagnosis in PD, as it approaches clinical features, diagnostic methodology, and leading differential diagnoses. Therapeutic issues are also briefly discussed. PMID:22675666

  17. NMFBFS: A NMF-Based Feature Selection Method in Identifying Pivotal Clinical Symptoms of Hepatocellular Carcinoma

    PubMed Central

    Ji, Zhiwei; Meng, Guanmin; Huang, Deshuang; Yue, Xiaoqiang; Wang, Bing

    2015-01-01

    Background. Hepatocellular carcinoma (HCC) is a highly aggressive malignancy. Traditional Chinese Medicine (TCM), with the characteristics of syndrome differentiation, plays an important role in the comprehensive treatment of HCC. This study aims to develop a nonnegative matrix factorization- (NMF-) based feature selection approach (NMFBFS) to identify potential clinical symptoms for HCC patient stratification. Methods. The NMFBFS approach consisted of three major steps. Firstly, statistics-based preliminary feature screening was designed to detect and remove irrelevant symptoms. Secondly, NMF was employed to infer redundant symptoms. Based on NMF-derived basis matrix, we defined a novel similarity measurement of intersymptoms. Finally, we converted each group of redundant symptoms to a new single feature so that the dimension was further reduced. Results. Based on a clinical dataset consisting of 407 patient samples of HCC with 57 symptoms, NMFBFS approach detected 8 irrelevant symptoms and then identified 16 redundant symptoms within 6 groups. Finally, an optimal feature subset with 39 clinical features was generated after compressing the redundant symptoms by groups. The validation of classification performance shows that these 39 features obviously improve the prediction accuracy of HCC patients. Conclusions. Compared with other methods, NMFBFS has obvious advantages in identifying important clinical features of HCC. PMID:26579207

  18. Grammatical Evolution for Features of Epileptic Oscillations in Clinical Intracranial Electroencephalograms

    PubMed Central

    Smart, Otis; Tsoulos, Ioannis G.; Gavrilis, Dimitris; Georgoulas, George

    2011-01-01

    This paper presents grammatical evolution (GE) as an approach to select and combine features for detecting epileptic oscillations within clinical intracranial electroencephalogram (iEEG) recordings of patients with epilepsy. Clinical iEEG is used in preoperative evaluations of a patient who may have surgery to treat epileptic seizures. Literature suggests that pathological oscillations may indicate the region(s) of brain that cause epileptic seizures, which could be surgically removed for therapy. If this presumption is true, then the effectiveness of surgical treatment could depend on the effectiveness in pinpointing critically diseased brain, which in turn depends on the most accurate detection of pathological oscillations. Moreover, the accuracy of detecting pathological oscillations depends greatly on the selected feature(s) that must objectively distinguish epileptic events from average activity, a task that visual review is inevitably too subjective and insufficient to resolve. Consequently, this work suggests an automated algorithm that incorporates grammatical evolution (GE) to construct the most sufficient feature(s) to detect epileptic oscillations within the iEEG of a patient. We estimate the performance of GE relative to three alternative methods of selecting or combining features that distinguish an epileptic gamma (~65-95 Hz) oscillation from normal activity: forward sequential feature-selection, backward sequential feature-selection, and genetic programming. We demonstrate that a detector with a grammatically evolved feature exhibits a sensitivity and selectivity that is comparable to a previous detector with a genetically programmed feature, making GE a useful alternative to designing detectors. PMID:21607200

  19. Detection and Classification of Cancer from Microscopic Biopsy Images Using Clinically Significant and Biologically Interpretable Features

    PubMed Central

    Kumar, Rajesh; Srivastava, Subodh

    2015-01-01

    A framework for automated detection and classification of cancer from microscopic biopsy images using clinically significant and biologically interpretable features is proposed and examined. The various stages involved in the proposed methodology include enhancement of microscopic images, segmentation of background cells, features extraction, and finally the classification. An appropriate and efficient method is employed in each of the design steps of the proposed framework after making a comparative analysis of commonly used method in each category. For highlighting the details of the tissue and structures, the contrast limited adaptive histogram equalization approach is used. For the segmentation of background cells, k-means segmentation algorithm is used because it performs better in comparison to other commonly used segmentation methods. In feature extraction phase, it is proposed to extract various biologically interpretable and clinically significant shapes as well as morphology based features from the segmented images. These include gray level texture features, color based features, color gray level texture features, Law's Texture Energy based features, Tamura's features, and wavelet features. Finally, the K-nearest neighborhood method is used for classification of images into normal and cancerous categories because it is performing better in comparison to other commonly used methods for this application. The performance of the proposed framework is evaluated using well-known parameters for four fundamental tissues (connective, epithelial, muscular, and nervous) of randomly selected 1000 microscopic biopsy images.

  20. What constitutes clinically significant binge eating? Association between binge features and clinical validators in college-age women†

    PubMed Central

    Vannucci, Anna; Theim, Kelly R.; Kass, Andrea E.; Trockel, Mickey; Genkin, Brooke; Rizk, Marianne; Weisman, Hannah; Bailey, Jakki O.; Sinton, Meghan M.; Aspen, Vandana; Wilfley, Denise E.; Taylor, C. Barr

    2013-01-01

    Objective To investigate the association between binge features and clinical validators. Method The Eating Disorder Examination assessed binge features in a sample of 549 college-age women: loss of control (LOC) presence, binge frequency, binge size, indicators of impaired control, and LOC severity. Clinical validators were self-reported clinical impairment and current psychiatric comorbidity, as determined via a semistructured interview. Results Compared with women without LOC, those with LOC had significantly greater odds of reporting clinical impairment and comorbidity (ps < 0.001). Among women with LOC (n = 252), the indicators of impaired control and LOC severity, but not binge size or frequency, were associated with greater odds of reporting clinical impairment and/or comorbidity (ps < 0.05). Discussion Findings confirm that the presence of LOC may be the hallmark feature of binge eating. Further, dimensional ratings about the LOC experience—and possibly the indicators of impaired control—may improve reliable identification of clinically significant binge eating. PMID:23386591

  1. Cognitive Impairment and Dementia in Parkinson’s Disease: Clinical Features, Diagnosis, and Management

    PubMed Central

    Meireles, Joana; Massano, João

    2012-01-01

    Parkinson’s disease (PD) is a common, disabling, neurodegenerative disorder. In addition to classical motor symptoms, non-motor features are now widely accepted as part of the clinical picture, and cognitive decline is a very important aspect of the disease, as it brings an additional significant burden for the patient and caregivers. The diagnosis of cognitive decline in PD, namely mild cognitive impairment (MCI) and dementia, can be extremely challenging, remaining largely based on clinical and cognitive assessments. Diagnostic criteria and methods for PD dementia and MCI have been recently issued by expert work groups. This manuscript has synthesized relevant data in order to obtain a pragmatic and updated review regarding cognitive decline in PD, from milder stages to dementia. This text will summarize clinical features, diagnostic methodology, and therapeutic issues of clinical decline in PD. Relevant clinical genetic issues, including recent advances, will also be approached. PMID:22654785

  2. Co-existence of various clinical and histopathological features of mycosis fungoides in a young female.

    PubMed

    Naeini, Farahnaz Fatemi; Soghrati, Mehrnaz; Abtahi-Naeini, Bahareh; Najafian, Jamshid; Rajabi, Parvin

    2015-01-01

    Mycosis fungoides is the most common type of cutaneous T-cell lymphoma (CTCL) and a rare disorder that typically affects older adults with erythematous scaling patches and plaques. Hypopigmented patches are a rare clinical variant of the disease. Granulomatous mycosis fungoides (GMF) is also a rare type of CTCL. No particular clinical criteria are available for the diagnosis of GMF, because of its variable presentations, and so the detection of GMF is primarily considered as a histopathological diagnosis. Rarely, a co-existence of more than one clinical or histopathological feature of mycosis fungoides may be present. To the best of our knowledge this is the first report of MF that shows the simultaneous co-existence of more than one clinical and histopathological variant of MF. We present a 29-year-old female with clinical presentations of both classic and hypopigmented mycosis fungoides (MF), and also the histopathological features of the classic and granulomatous types of the disease. PMID:25814741

  3. Co-Existence of Various Clinical and Histopathological Features of Mycosis Fungoides in a Young Female

    PubMed Central

    Naeini, Farahnaz Fatemi; Soghrati, Mehrnaz; Abtahi-Naeini, Bahareh; Najafian, Jamshid; Rajabi, Parvin

    2015-01-01

    Mycosis fungoides is the most common type of cutaneous T-cell lymphoma (CTCL) and a rare disorder that typically affects older adults with erythematous scaling patches and plaques. Hypopigmented patches are a rare clinical variant of the disease. Granulomatous mycosis fungoides (GMF) is also a rare type of CTCL. No particular clinical criteria are available for the diagnosis of GMF, because of its variable presentations, and so the detection of GMF is primarily considered as a histopathological diagnosis. Rarely, a co-existence of more than one clinical or histopathological feature of mycosis fungoides may be present. To the best of our knowledge this is the first report of MF that shows the simultaneous co-existence of more than one clinical and histopathological variant of MF. We present a 29-year-old female with clinical presentations of both classic and hypopigmented mycosis fungoides (MF), and also the histopathological features of the classic and granulomatous types of the disease. PMID:25814741

  4. Validating tyrosinase homologue melA as a photoacoustic reporter gene for imaging Escherichia coli.

    PubMed

    Paproski, Robert J; Li, Yan; Barber, Quinn; Lewis, John D; Campbell, Robert E; Zemp, Roger

    2015-10-01

    To understand the pathogenic processes for infectious bacteria, appropriate research tools are required for replicating and characterizing infections. Fluorescence and bioluminescence imaging have primarily been used to image infections in animal models, but optical scattering in tissue significantly limits imaging depth and resolution. Photoacoustic imaging, which has improved depth-to-resolution ratio compared to conventional optical imaging, could be useful for visualizing melA-expressing bacteria since melA is a bacterial tyrosinase homologue which produces melanin. Escherichia coli-expressing melA was visibly dark in liquid culture. When melA-expressing bacteria in tubes were imaged with a VisualSonics Vevo LAZR system, the signal-to-noise ratio of a 9×dilution sample was 55, suggesting that ?20 bacteria cells could be detected with our system. Multispectral (680, 700, 750, 800, 850, and 900 nm) analysis of the photoacoustic signal allowed unmixing of melA-expressing bacteria from blood. To compare photoacoustic reporter gene melA (using Vevo system) with luminescent and fluorescent reporter gene Nano-lantern (using Bruker Xtreme In-Vivo system), tubes of bacteria expressing melA or Nano-lantern were submerged 10 mm in 1% Intralipid, spaced between <1 and 20 mm apart from each other, and imaged with the appropriate imaging modality. Photoacoustic imaging could resolve the two tubes of melA-expressing bacteria even when the tubes were less than 1 mm from each other, while bioluminescence and fluorescence imaging could not resolve the two tubes of Nano-lantern-expressing bacteria even when the tubes were spaced 10 mm from each other. After injecting 100-?L of melA-expressing bacteria in the back flank of a chicken embryo, photoacoustic imaging allowed visualization of melA-expressing bacteria up to 10-mm deep into the embryo. Photoacoustic signal from melA could also be separated from deoxy- and oxy-hemoglobin signal observed within the embryo and chorioallantoic membrane. Our results suggest that melA is a useful photoacoustic reporter gene for visualizing bacteria, and further work incorporating photoacoustic reporters into infectious bacterial strains is warranted. PMID:26502231

  5. Validating tyrosinase homologue melA as a photoacoustic reporter gene for imaging Escherichia coli

    NASA Astrophysics Data System (ADS)

    Paproski, Robert J.; Li, Yan; Barber, Quinn; Lewis, John D.; Campbell, Robert E.; Zemp, Roger

    2015-10-01

    To understand the pathogenic processes for infectious bacteria, appropriate research tools are required for replicating and characterizing infections. Fluorescence and bioluminescence imaging have primarily been used to image infections in animal models, but optical scattering in tissue significantly limits imaging depth and resolution. Photoacoustic imaging, which has improved depth-to-resolution ratio compared to conventional optical imaging, could be useful for visualizing melA-expressing bacteria since melA is a bacterial tyrosinase homologue which produces melanin. Escherichia coli-expressing melA was visibly dark in liquid culture. When melA-expressing bacteria in tubes were imaged with a VisualSonics Vevo LAZR system, the signal-to-noise ratio of a 9× dilution sample was 55, suggesting that ˜20 bacteria cells could be detected with our system. Multispectral (680, 700, 750, 800, 850, and 900 nm) analysis of the photoacoustic signal allowed unmixing of melA-expressing bacteria from blood. To compare photoacoustic reporter gene melA (using Vevo system) with luminescent and fluorescent reporter gene Nano-lantern (using Bruker Xtreme In-Vivo system), tubes of bacteria expressing melA or Nano-lantern were submerged 10 mm in 1% Intralipid, spaced between <1 and 20 mm apart from each other, and imaged with the appropriate imaging modality. Photoacoustic imaging could resolve the two tubes of melA-expressing bacteria even when the tubes were less than 1 mm from each other, while bioluminescence and fluorescence imaging could not resolve the two tubes of Nano-lantern-expressing bacteria even when the tubes were spaced 10 mm from each other. After injecting 100-μL of melA-expressing bacteria in the back flank of a chicken embryo, photoacoustic imaging allowed visualization of melA-expressing bacteria up to 10-mm deep into the embryo. Photoacoustic signal from melA could also be separated from deoxy- and oxy-hemoglobin signal observed within the embryo and chorioallantoic membrane. Our results suggest that melA is a useful photoacoustic reporter gene for visualizing bacteria, and further work incorporating photoacoustic reporters into infectious bacterial strains is warranted.

  6. Serologic features of primary Sjögren’s syndrome: clinical and prognostic correlation

    PubMed Central

    García-Carrasco, Mario; Mendoza-Pinto, Claudia; Jiménez-Hernández, César; Jiménez-Hernández, Mario; Nava-Zavala, Arnulfo; Riebeling, Carlos

    2013-01-01

    Sjögren’s syndrome (SS) is a chronic inflammatory systemic autoimmune disease. The disease spectrum extends from sicca syndrome to systemic involvement and extraglandular manifestations, and SS may be associated with malignancies, especially non-Hodgkin’s lymphoma. Patients with SS present a broad spectrum of serologic features. Certain serological findings are highly correlated with specific clinical features, and can be used as prognostic markers. PMID:23525186

  7. Prediction models for solitary pulmonary nodules based on curvelet textural features and clinical parameters.

    PubMed

    Wang, Jing-Jing; Wu, Hai-Feng; Sun, Tao; Li, Xia; Wang, Wei; Tao, Li-Xin; Huo, Da; Lv, Ping-Xin; He, Wen; Guo, Xiu-Hua

    2013-01-01

    Lung cancer, one of the leading causes of cancer-related deaths, usually appears as solitary pulmonary nodules (SPNs) which are hard to diagnose using the naked eye. In this paper, curvelet-based textural features and clinical parameters are used with three prediction models [a multilevel model, a least absolute shrinkage and selection operator (LASSO) regression method, and a support vector machine (SVM)] to improve the diagnosis of benign and malignant SPNs. Dimensionality reduction of the original curvelet-based textural features was achieved using principal component analysis. In addition, non-conditional logistical regression was used to find clinical predictors among demographic parameters and morphological features. The results showed that, combined with 11 clinical predictors, the accuracy rates using 12 principal components were higher than those using the original curvelet-based textural features. To evaluate the models, 10-fold cross validation and back substitution were applied. The results obtained, respectively, were 0.8549 and 0.9221 for the LASSO method, 0.9443 and 0.9831 for SVM, and 0.8722 and 0.9722 for the multilevel model. All in all, it was found that using curvelet-based textural features after dimensionality reduction and using clinical predictors, the highest accuracy rate was achieved with SVM. The method may be used as an auxiliary tool to differentiate between benign and malignant SPNs in CT images. PMID:24289618

  8. AB105. Novel large mitochondrial DNA deletions in pediatric patients with clinical features of mitochondrial disorders

    PubMed Central

    Phuong, Le Lan; Van Anh, Pham Thi; Trang, Luu Huyen; Sen, Nguyen Thi; Anh, Lê Ngoc; Hung, Cao Vu; Thai, Trinh Hong

    2015-01-01

    Background and objective So far, over 100 large mitochondrial DNA (mtDNA) deletions have been identified. Those large deletions can lead to a broad spectrum of clinical features including mild mitochondrial myopathies (MM), progressive external ophthalmoplegia (PEO), Kearns-Sayre syndrome (KSS) and Pearson syndrome (PS). Pediatric patients have been paid much attention because mitochondrial disorders in children are diverse and many clinical features are difficult to distinguish. The study aims to investigate the large mtDNA deletions in the Vietnamese pediatric patients with clinical features of mitochondrial disorders. Methods Total DNAs were extracted from blood samples of 62 pediatric patients with clinical features of mitochondrial disorders and 19 pediatric patients without clinical features of mitochondrial disorders collected at Vietnam National Hospital of Pediatrics. The large mtDNA deletions were determined by using nested PCR and PCR-sequencing of the deletion junctions. Results Using nested PCR, the large mtDNA deletions in pediatric patients with clinical features of mitochondrial disorders were identified with 72.58% (45/62 cases) carrying 4,977 bp deletion and 20.97% (13/62 cases) carrying multiple large mtDNA deletions. Using PCR-sequencing of deletion junctions, some novel large mtDNA deletions were also detected, including: 4,443, 4,701, 4,732, 4,814, 4,860, 4,969, 4,994, 5,122, 5,135 and 5,144 bp deletions. The large mtDNA deletions in pediatric patients without clinical features of mitochondrial disorders were also detected with 89.47% (17/19 cases) carrying 4,977 bp deletion and only 5.26% (1/19 cases) carrying the multiple large mtDNA deletions. Therefore, further studies have been being conducted to determine the multiple large mtDNA deletions in Vietnamese pediatric patients. Conclusions The 4,977 bp deletion is a common mtDNA deletion in Vietnamese pediatric patients. In 20.97% of pediatric patients with clinical features of mitochondrial disorders harboring the multiple large mtDNA deletions, some novel large mtDNA deletions have been found.

  9. Primary malignant tumors of peritoneal and retroperitoneal origin: clinical and imaging features.

    PubMed

    Lubner, Meghan G; Hinshaw, J Louis; Pickhardt, Perry J

    2014-10-01

    Peritoneal carcinomatosis and metastatic involvement of the retroperitoneum are manifestations of many organ-based malignancies and lymphoproliferative disorders. Primary malignancies of peritoneal and retroperitoneal origin occur much less frequently, and are difficult to distinguish from metastatic disease on imaging alone. However, the imaging features of these primary tumors, taken in concert with the clinical data, can be helpful in narrowing the scope of the differential diagnosis. This review presents the clinical and imaging features of primary peritoneal and retroperitoneal tumors arising from the various tissue components that comprise the ligaments, mesenteries, and connective tissues of the peritoneal and retroperitoneal spaces. PMID:25246051

  10. Analysis of PRKN Variants and Clinical Features in Polish Patients with Parkinson’s Disease

    PubMed Central

    Oczkowska, Anna; Florczak-Wyspianska, Jolanta; Permoda-Osip, Agnieszka; Owecki, Michal; Lianeri, Margarita; Kozubski, Wojciech; Dorszewska, Jolanta

    2015-01-01

    The etiology of Parkinson’s disease (PD) is still unclear, but mutations in PRKN have provided some biological insights. The role of PRKN mutations and other genetic variation in determining the clinical features of PD remains unresolved. The aim of the study was to analyze PRKN mutations in PD and controls in the Polish population and to try to correlate between the presence of genetic variants and clinical features. We screened for PRKN mutations in 90 PD patients and 113 controls and evaluated clinical features in these patients. We showed that in the Polish population 4% of PD patients had PRKN mutations (single or with additional polymorphism) while single heterozygous polymorphisms (S167N, E310D, D394N) of PRKN were present in 21% of sporadic PD. Moreover, 5% PD patients had more than one PRKN change (polymorphisms and mutations). Detected PRKN variants moderately correlated with PD course and response to L-dopa. It also showed that other PARK genes (SNCA, HTRA2, SPR) mutations probably may additionally influence PD risk and clinical features. PRKN variants are relatively common in our Polish series of patients with PD. Analysis of the PRKN gene may be useful in determining clinical phenotype, and helping with diagnostic and prognostic procedures in the future.

  11. Identifying potential clinical syndromes of hepatocellular carcinoma using PSO-based hierarchical feature selection algorithm.

    PubMed

    Ji, Zhiwei; Wang, Bing

    2014-01-01

    Hepatocellular carcinoma (HCC) is one of the most common malignant tumors. Clinical symptoms attributable to HCC are usually absent, thus often miss the best therapeutic opportunities. Traditional Chinese Medicine (TCM) plays an active role in diagnosis and treatment of HCC. In this paper, we proposed a particle swarm optimization-based hierarchical feature selection (PSOHFS) model to infer potential syndromes for diagnosis of HCC. Firstly, the hierarchical feature representation is developed by a three-layer tree. The clinical symptoms and positive score of patient are leaf nodes and root in the tree, respectively, while each syndrome feature on the middle layer is extracted from a group of symptoms. Secondly, an improved PSO-based algorithm is applied in a new reduced feature space to search an optimal syndrome subset. Based on the result of feature selection, the causal relationships of symptoms and syndromes are inferred via Bayesian networks. In our experiment, 147 symptoms were aggregated into 27 groups and 27 syndrome features were extracted. The proposed approach discovered 24 syndromes which obviously improved the diagnosis accuracy. Finally, the Bayesian approach was applied to represent the causal relationships both at symptom and syndrome levels. The results show that our computational model can facilitate the clinical diagnosis of HCC. PMID:24745007

  12. Identifying Potential Clinical Syndromes of Hepatocellular Carcinoma Using PSO-Based Hierarchical Feature Selection Algorithm

    PubMed Central

    Ji, Zhiwei; Wang, Bing

    2014-01-01

    Hepatocellular carcinoma (HCC) is one of the most common malignant tumors. Clinical symptoms attributable to HCC are usually absent, thus often miss the best therapeutic opportunities. Traditional Chinese Medicine (TCM) plays an active role in diagnosis and treatment of HCC. In this paper, we proposed a particle swarm optimization-based hierarchical feature selection (PSOHFS) model to infer potential syndromes for diagnosis of HCC. Firstly, the hierarchical feature representation is developed by a three-layer tree. The clinical symptoms and positive score of patient are leaf nodes and root in the tree, respectively, while each syndrome feature on the middle layer is extracted from a group of symptoms. Secondly, an improved PSO-based algorithm is applied in a new reduced feature space to search an optimal syndrome subset. Based on the result of feature selection, the causal relationships of symptoms and syndromes are inferred via Bayesian networks. In our experiment, 147 symptoms were aggregated into 27 groups and 27 syndrome features were extracted. The proposed approach discovered 24 syndromes which obviously improved the diagnosis accuracy. Finally, the Bayesian approach was applied to represent the causal relationships both at symptom and syndrome levels. The results show that our computational model can facilitate the clinical diagnosis of HCC. PMID:24745007

  13. A comprehensive review of the Kumbh Mela: identifying risks for spread of infectious diseases.

    PubMed

    Sridhar, S; Gautret, P; Brouqui, P

    2015-02-01

    The Kumbh Mela in India is the largest mass gathering in the world which witnessed close to 100 million visitors in 2013. An event of this magnitude presents challenges. Increased population density, reduced hygienic conditions and exposure to environmental pollutants pave the way for easy transmission of pathogens. Due to the possibility of epidemics, the primary focus should be on identifying the potential risk factors and implementing appropriate preventive measures. The context of religion and psychology of the pilgrims is also closely associated with the evolution of the risk factors and so forms an important part of the discussion. We provide a brief background to the Kumbh Mela with a description of the existing and potential risk factors that require our attention. PMID:25682278

  14. Truth is a daughter of time: a case of MELAS diagnosed 25 years after initial manifestation

    PubMed Central

    Windpessl, Martin; Müller, Petra; Wallner, Manfred

    2014-01-01

    The acronym MELAS (mitochondrial encephalopathy with lactic acidosis and stroke-like episodes) belies the true scope of one of the most prevalent mitochondriopathies in adults. While the original description focused on neuromuscular symptoms, we now recognize this syndrome as genetically well defined but phenotypically profoundly heterogeneous, as exemplified by our experience. Here we report the case of a man who initially presented in 1986. In hindsight, his was a classic manifestation of MELAS, but the illness was ascribed to an ill-defined viral encephalitis. Over the years, diabetes and hearing impairment developed and his functional status deteriorated progressively. It took the quarter of a century to arrive at the correct diagnosis. It is worthwhile to keep an open mind when dealing with chronically ill patients with a seemingly clear-cut diagnosis. PMID:25988014

  15. Clinical features of early onset, familial Alzheimer`s disease linked to chromosome 14

    SciTech Connect

    Mullan, M.; Bennett, C.; Figueredo, C.; Crawford, F.

    1995-02-27

    Early onset familial Alzheimer`s disease (AD) has an autosomal dominant mode of inheritance. Two genes are responsible for the majority of cases of this subtype of AD. Mutations in the {beta}-amyloid precursor protein ({beta}APP) gene on chromosome 21 have been shown to completely cosegregate with the disease. We and others have previously described the clinical features of families with {beta}APP mutations at the codon 717 locus in an attempt to define the phenotype associated with a valine to isoleucine (Val {r_arrow} Ile) or a valine to glycine (Val {r_arrow} Gly) change. More recently, a second locus for very early onset disease has been localized to chromosome 14. The results of linkage studies in some families suggesting linkage to both chromosomes have been explained by the suggestion of a second (centromeric) locus on chromosome 21. Here we report the clinical features and genetic analysis of a British pedigree (F74) with early onset AD in which neither the {beta}APP locus nor any other chromosome 21 locus segregates with the disease, but in which good evidence is seen for linkage on the long arm of chromosome 14. In particular we report marker data suggesting that the chromosome 14 disease locus is close to D14S43 and D14S77. Given the likelihood that F74 represents a chromosome 14 linked family, we describe the clinical features and make a limited clinical comparison with the {beta}APP717 Val {r_arrow} Ile and {beta}APP717 Val {r_arrow} Gly encoded families that have been previously described. We conclude that although several previously reported clinical features occur to excess in early onset familial AD, no single clinical feature demarcates either the chromosome 14 or {beta}APP codon 717 mutated families except mean age of onset. 52 refs., 2 figs., 5 tabs.

  16. Oral lichen planus: the clinical, historical, and therapeutic features of 100 cases.

    PubMed

    Vincent, S D; Fotos, P G; Baker, K A; Williams, T P

    1990-08-01

    Lichen planus is a chronic inflammatory epidermal and mucosal disease, the cause of which is poorly understood. We reviewed the clinical and historic features of 100 patients referred to our clinic for diagnosis and management of lichen planus. The age, gender, chief complaint, duration of the chief complaint, medical history, medications, and clinical findings were recorded. Past therapeutic modalities were reviewed. Of therapeutic significance, 25 patients with oral lichen planus had a secondary oral candidiasis. Management of symptomatic lichen planus with topical and systemic steroid is discussed. The pharmacology of topical and systemic steroid usage and the rationale for treatment are discussed. PMID:2290644

  17. Susceptibility of black bullhead Ameiurus melas to a panel of ranavirus isolates.

    PubMed

    Gobbo, F; Cappellozza, E; Pastore, M R; Bovo, G

    2010-07-01

    Ranaviruses are considered a serious threat to lower vertebrates, including fish, amphibians and reptiles. However, epidemiological data on these agents are lacking, and further investigations are needed to understand the role of carriers and to update the list of susceptible hosts. We carried out various experimental infections under controlled conditions to contribute to the current knowledge on the susceptibility of black bullhead Ameiurus melas to European catfish virus (ECV) and other ranaviruses. A panel of 7 ranavirus isolates was used to challenge duplicate groups of A. melas juveniles maintained in aquaria supplied with running dechlorinated tap water. The experiments were performed at 15 and 25 degrees C. The results confirmed the high susceptibility of A. melas to ECV infection. Furthermore, a significant mortality associated with the typical signs of systemic viral infections was observed in groups challenged with Epizootic haematopoietic necrosis virus (EHNV) at 25 degrees C, and to a lesser extent, at 15 degrees C. No significant mortality was recorded in fish challenged with European sheatfish virus (ESV), Frog virus 3 (FV3), Rana esculenta virus-like (REV-like), Bohle iridovirus (BIV) or short-finned eel virus (SERV). PMID:20815324

  18. Clinical and Imaging Features of a Congenital Midline Cervical Cleft in a Neonate: A Rare Anomaly

    PubMed Central

    Bawa, Pritish; Ibrahim, Zachary; Amodio, John

    2015-01-01

    Congenital midline cervical cleft (CMCC) is a rare congenital anomaly. CMCC and its complications and treatment have been well described in ENT, dermatology, and pediatric surgery literature. However, to our knowledge, the imaging work-up has not been reported in the literature thus far. We present a case of CMCC in a neonate with description of clinical presentation and imaging features. PMID:26078904

  19. Synergistic combination of clinical and imaging features predicts abnormal imaging patterns of pulmonary infections.

    PubMed

    Bagci, Ulas; Jaster-Miller, Kirsten; Olivier, Kenneth N; Yao, Jianhua; Mollura, Daniel J

    2013-09-01

    We designed and tested a novel hybrid statistical model that accepts radiologic image features and clinical variables, and integrates this information in order to automatically predict abnormalities in chest computed-tomography (CT) scans and identify potentially important infectious disease biomarkers. In 200 patients, 160 with various pulmonary infections and 40 healthy controls, we extracted 34 clinical variables from laboratory tests and 25 textural features from CT images. From the CT scans, pleural effusion (PE), linear opacity (or thickening) (LT), tree-in-bud (TIB), pulmonary nodules, ground glass opacity (GGO), and consolidation abnormality patterns were analyzed and predicted through clinical, textural (imaging), or combined attributes. The presence and severity of each abnormality pattern was validated by visual analysis of the CT scans. The proposed biomarker identification system included two important steps: (i) a coarse identification of an abnormal imaging pattern by adaptively selected features (AmRMR), and (ii) a fine selection of the most important features from the previous step, and assigning them as biomarkers, depending on the prediction accuracy. Selected biomarkers were used to classify normal and abnormal patterns by using a boosted decision tree (BDT) classifier. For all abnormal imaging patterns, an average prediction accuracy of 76.15% was obtained. Experimental results demonstrated that our proposed biomarker identification approach is promising and may advance the data processing in clinical pulmonary infection research and diagnostic techniques. PMID:23930819

  20. Cauda equina syndrome as the initial presenting clinical feature of medulloblastoma: a case report

    PubMed Central

    2012-01-01

    Introduction Medulloblastoma is one of the most common pediatric brain malignancies. The usual presenting clinical features are related to posterior fossa syndrome or/and hydrocephalus. Cauda equina syndrome is a very rare presentation for this disease. Case presentation We describe the case of a three-year-old boy with cauda equina syndrome as the initial presenting clinical feature for medulloblastoma. He was initially diagnosed as having a spinal tumor by magnetic resonance imaging scan. Subsequently, a cranial magnetic resonance imaging scan revealed a posterior fossa tumor with features of dissemination. He had substantial improvement after treatment. This case report is complemented by a literature review related to this unusual presentation. Conclusions Medulloblastoma primarily presenting with cauda equina syndrome is very rare. However, spinal drop metastasis should be considered in the pediatric age group to avoid suboptimal management. PMID:22620685

  1. Primary dystonias and genetic disorders with dystonia as clinical feature of the disease.

    PubMed

    Moghimi, Narges; Jabbari, Bahman; Szekely, Anna M

    2014-01-01

    Dystonia is probably the most common form of movement disorder encountered in the clinical practice. It is characterized by sustained muscle contractions, usually producing twisting and repetitive movements or abnormal postures or positions. Dystonias can be classified in several ways, including primarily by the clinical phenomenology or by the underlining etiology, in particular to understand if the presentation is genetically determined. By advances of genetics, including contemporary genomic technologies, there is a growing understanding of the molecular underpinnings of genetically determined dystonias. The intricacy of information requires a user friendly, novel database that may efficiently serve clinicians to inform of advances of the field and to diagnose and manage these often complex cases. Here we present an up to date, comprehensive review - in tabulated formats - of genetically determined primary dystonias and complex Mendelian disorders with dystonia as central feature. The detailed search up to December 24, 2012, identified 24 hereditary primary dystonias (DYT1 to DYT 25) that are mostly monogenic disorders, and a larger group (>70) of genetic syndromes in which dystonia is one of the characteristic clinical features. We organized the findings not only by individual information (name of the conditions, pattern of inheritance, chromosome and gene abnormality, clinical features, relevant ancillary tests and key references), but also provide symptom-oriented organization of the clinical entities for efficient inquiries. PMID:23911094

  2. Microflora associated with primary endodontic infections: correlations among SEM evaluation, clinical features, and radiographic findings.

    PubMed

    Baldasso, Flávia Emi Razera; Stürmer, Caroline Patta; Luisi, Simone Bonato; Petruzzi, Maria Noel Marzano Rodrigues; Scarparo, Roberta Kochenborger; De Figueiredo, José Antônio Poli

    2012-11-01

    The aim of the present study was to characterize, by means of SEM, primary endodontic infections and to correlate with clinical and radiographic findings. Twelve (12) human extracted teeth (19 roots) presenting primary endodontic infection were examined. SEM qualitative observations of bacterial and defense cells, their features and distribution within the root canal lumen and root dentine were recorded for association with clinical and radiographic tabled data. Although a direct correlation between biofilm composition and clinical/radiographic findings was not established, structural organization and distribution of the biofilm, as well as the characteristics of host response, could be easily related to those features. Bacterial biofilm was predominant at the apical third. Symptomatic apical periodontitis was related to presence of bacterial biofilm all thirds. Defense cells could be seen in the apical third of some samples. These cells were present in all thirds in some of the cases with open cavities. The correlations performed in this study allowed a better understanding of the picture of primary endodontic infection, host response and relevant clinical features. The combined use of scanning electron microscopy with clinical and radiographic evaluation has the potential to overcome some limits of the current knowledge related to pulpal and periapical diseases, providing important insights for improving treatment strategies. PMID:22865332

  3. Measuring clinical decision making: do key features problems measure higher level cognitive processes?

    PubMed

    Hurtz, Gregory M; Chinn, Roberta N; Barnhill, Grady C; Hertz, Norman R

    2012-12-01

    Reliable and objective assessment of clinical decision-making skills has been a long-standing goal in occupational testing in the allied health professions. With this goal in mind, the key features problem (KFP) format was developed which elicits targeted decisions about key features of clinical scenarios. To build on a small body of empirical evidence evaluating their efficacy, this study evaluates whether KFPs successfully assess higher order cognitive processes. Analysis of objective data (item length and difficulty, item performance, and response times) and subjective data (expert ratings of cognitive complexity) supported the proposition that KFPs tend to be more cognitively complex than conventional multiple-choice questions. Not only were they rated as more complex, but this complexity accounted for some of the increase in time spent responding to these items. Results support the use of KFPs in standardized assessments for measuring higher order cognitive processes such as clinical decision making. PMID:22605792

  4. Clinical findings and imaging features of 67 nasopharyngeal carcinoma patients with postradiation nasopharyngeal necrosis.

    PubMed

    Chen, Ming-Yuan; Mai, Hai-Qiang; Sun, Rui; Guo, Xiang; Zhao, Chong; Hong, Ming-Huang; Hua, Yi-Jun

    2013-10-01

    Postradiation nasopharyngeal necrosis is an important late effect of radiotherapy that affects prognosis in patients with nasopharyngeal carcinoma. In the present study, we reviewed the clinical and imaging features of 67 patients with pathologically diagnosed postradiation nasopharyngeal necrosis who were treated at Sun Yat-sen University Cancer Center between June 2006 and January 2010. Their clinical manifestations, endoscopic findings, and imaging features were analyzed. Early nasopharyngeal necrosis was limited to a local site in the nasopharyngeal region, and the tissue defect was not obvious, whereas deep parapharyngeal ulcer or signs of osteoradionecrosis in the basilar region was observed in serious cases. Those with osteoradionecrosis and/or exposed carotid artery had a high mortality. In conclusion, Postradiation nasopharyngeal necrosis has characteristic magnetic resonance imaging appearances, which associate well with clinical findings, but pathologic examination is essential to make the diagnosis. PMID:23816556

  5. Clinical features of 80 cases of tinea faciei treated at a rural clinic in Japan.

    PubMed

    Noguchi, Hiromitsu; Jinnin, Masatoshi; Miyata, Keishi; Hiruma, Masataro; Ihn, Hironobu

    2014-12-01

    From March 2008 through February 2014, 80 patients aged 1-95 years (43 men and 37 women) were diagnosed with tinea faciei by a rural Japanese clinic. The affected sites were the cheek in 42 patients (52.5%), the auricles and area surrounding the auricles in 16 (20.0%), and the mandible in 12 (15.0%); 33 patients (41.2%) had concurrent ringworm in areas other than the face. Twenty-one patients (26.3%) had applied topical steroids to treat a rash. The pathogen responsible for tinea faciei was Trichophyton rubrum in 35 patients (43.7%), T. tonsurans in 19 (23.8%), T. mentagrophytes in 3 (3.8%), T. verrucosum in 2 (2.5%), T. violaceum in 2 (2.5%), Microsporum canis in 17 (21.3%), and M. gypseum in 2 (2.5%). Clinical symptoms were divided into three groups based on the severity of inflammation and the extent of lesions and scored in points. Anthropophilic dermatophytes resulted in a score of 1.82 points for the severity of inflammation and a score of 1.84 points for the extent of lesions while zoophilic dermatophytes resulted in a score of 2.14 points for the severity of inflammation and a score of 1.50 points for the extent of lesions. This indicates that anthropophilic fungi resulted in less inflammation and broader lesions, whereas zoophilic fungi resulted in more intense inflammation and smaller lesions. Patients who had applied topical steroids had a mean score of 1.90 points for the severity of inflammation and a mean score of 2.10 points for the extent of lesions. Patients who had not applied topical steroids had a mean score of 1.95 points for the severity of inflammation and a mean score of 1.59 points for the extent of lesions. The severity of inflammation did not differ significantly. However, lesions were significantly broader in patients who had applied topical steroids than in those who had not applied topical steroids (p < 0.04). The severity of tinea faciei is a useful index for the clinical diagnosis of tinea faciei. PMID:25639303

  6. Socio-demographic, Clinical and Laboratory Features of Rotavirus Gastroenteritis in Children Treated in Pediatric Clinic

    PubMed Central

    Azemi, Mehmedali; Berisha, Majlinda; Ismaili-Jaha, Vlora; Kolgeci, Selim; Avdiu, Muharrem; Jakupi, Xhevat; Hoxha, Rina; Hoxha-Kamberi, Teuta

    2013-01-01

    Aim: The aim of work was presentation of several socio-demographic, clinical and laboratory characteristics of gastroenteritis caused by rotavirus. The examinees and methods: The examinees were children under the age of five years treated at the Pediatric Clinic due to acute gastroenteritis caused by rotavirus. Rotavirus is isolated by method chromatographic immunoassay by Cer Test Biotec. Results: From the total number of patients (850) suffering from acute gastroenteritis, feces test on bacteria, viruses. protozoa and fungi was positive in 425 (49.76%) cases. From this number the test on bacteria was positive in 248 (58.62%) cases, on viruses it was positive in 165 (39.0%), on protozoa in 9 (2.12%) cases and on fungi only one case. Rotavirus was the most frequent one in viral test, it was isolated in 142 (86.06%) cases, adenoviruses were found in 9 (5.45%) cases and noroviruses in only one case. The same feces sample that contained rotavirus and adenoviruses were isolated in five cases, whereas rotavirus with bacteria was isolated in the same feces sample in five cases. The biggest number of cases 62 (43.66%) were of the age 6-12 months, whereas the smallest number 10 (7.04%) cases were of the age 37-60 months. There were 76 (53.52%) of cases of male gender, from rural areas there were 81 (57.04%) cases and there were 58 (40.80%) cases during the summer period. Among the clinical symptoms the most prominent were diarrhea, vomiting, high temperature, whereas the different degree of dehydration were present in all cases (the most common one was moderate dehydration). The most frequent one was isonatremic dehydration in 91 (64.08%) cases, less frequent one was hypernatremic dehydration in 14 (9.85%) cases. The majority of cases (97.89%) had lower blood pH values, whereas 67 (47.17%) cases had pH values that varied from 7.16 -7.20 (curve peak), normal values were registered in only 3 (2.11%) cases. Urea values were increased in 45 (31.07%) cases (the maximum value was 26.5 mmol/L), whereas creatinine value was increased in 41 (28.87%) cases (maximum value was 302 mmol/L). Conclusion: The results show the high frequency of rotavirus infections in children hospitalized with acute gastroenteritis. Rotavirus may cause different dehydration degree with electrolyte, acid-base and other biochemical disorders. Preventing the infection caused by rotavirus is of a great importance. PMID:23678334

  7. How do clinical features help identify paediatric patients with fractures following blunt wrist trauma?

    PubMed Central

    Webster, A P; Goodacre, S; Walker, D; Burke, D

    2006-01-01

    Objective Wrist injuries are a common presentation to the emergency department (ED). There are no validated decision rules to help clinicians evaluate paediatric wrist trauma. This study aimed to identify which clinical features are diagnostically useful in deciding the need for a wrist radiograph, and then to develop a clinical decision rule. Methods This prospective cohort study was carried out in the ED of Sheffield Children's Hospital. Eligible patients were recruited if presenting within 72 hours following blunt wrist trauma. A standardised data collection form was completed for all patients. The outcome measure was the presence or absence of a fracture. Univariate analysis was performed with the χ2 test. Associated variables (p<0.2) were entered into a multivariate model. Classification and regression tree (CART) analysis was used to derive the clinical decision rule. Results In total, 227 patients were recruited and 106 children were diagnosed with fractures (47%). Of 10 clinical features analysed, six were found by univariate analysis to be associated with a fracture. CART analysis identified the presence of radial tenderness, focal swelling, or an abnormal supination/pronation as the best discriminatory features. Cross fold validation of this decision rule had a sensitivity of 99.1% (95% confidence interval 94.8% to 100%) and a specificity of 24.0% (17.2% to 32.3%). The radiography rate would be 87%. Conclusions Radial tenderness, focal swelling, and abnormal supination/pronation are associated with wrist fractures in children. The clinical decision rule derived from these features had a high sensitivity, but low specificity, and would not substantially alter our current radiography rate. The potential for a clinical decision rule for paediatric wrist trauma appears limited. PMID:16627835

  8. Fetal valproate syndrome: clinical and neuro-developmental features in two sibling pairs.

    PubMed

    Christianson, A L; Chesler, N; Kromberg, J G

    1994-04-01

    The clinical and neurodevelopmental features are presented of four children--two sibling pairs--who were exposed in utero to valproic acid. One of each pair of children presented for diagnosis and assessment of developmental delay; the other sibling was examined at a later date. Three of the children were globally developmentally delayed with marked speech disability, and had dysmorphic features consistent with fetal valproate syndrome. One also had features of infantile autism. The fourth child had some of the dysmorphic features connected with fetal valproate syndrome, but had normal intellect, with his verbal ability being significantly below his non-verbal ability. He currently attends a school for learning-disabled children. PMID:7512516

  9. Novel CLCN1 mutations and clinical features of Korean patients with myotonia congenita.

    PubMed

    Moon, In-Soo; Kim, Hyang-Sook; Shin, Jin-Hong; Park, Yeong-Eun; Park, Kyu-Hyun; Shin, Yong-Bum; Bae, Jong Seok; Choi, Young-Chul; Kim, Dae-Seong

    2009-12-01

    Myotonia congenita (MC) is a form of nondystrophic myotonia caused by a mutation of CLCN1, which encodes human skeletal muscle chloride channel (CLC-1). We performed sequence analysis of all coding regions of CLCN1 in patients clinically diagnosed with MC, and identified 10 unrelated Korean patients harboring mutations. Detailed clinical analysis was performed in these patients to identify their clinical characteristics in relation to their genotypes. The CLCN1 mutational analyses revealed nine different point mutations. Of these, six (p.M128I, p.S189C, p.M373L, p.P480S, p.G523D, and p.M609K) were novel and could be unique among Koreans. While some features including predominant lower extremity involvement and normal to slightly elevated creatine kinase levels were consistently observed, general clinical features were highly variable in terms of age of onset, clinical severity, aggravating factors, and response to treatment. Our study is the first systematic study of MC in Korea, and shows its expanding clinical and genetic spectrums. PMID:19949657

  10. Computational Phenotype Discovery Using Unsupervised Feature Learning over Noisy, Sparse, and Irregular Clinical Data

    PubMed Central

    Lasko, Thomas A.; Denny, Joshua C.; Levy, Mia A.

    2013-01-01

    Inferring precise phenotypic patterns from population-scale clinical data is a core computational task in the development of precision, personalized medicine. The traditional approach uses supervised learning, in which an expert designates which patterns to look for (by specifying the learning task and the class labels), and where to look for them (by specifying the input variables). While appropriate for individual tasks, this approach scales poorly and misses the patterns that we don’t think to look for. Unsupervised feature learning overcomes these limitations by identifying patterns (or features) that collectively form a compact and expressive representation of the source data, with no need for expert input or labeled examples. Its rising popularity is driven by new deep learning methods, which have produced high-profile successes on difficult standardized problems of object recognition in images. Here we introduce its use for phenotype discovery in clinical data. This use is challenging because the largest source of clinical data – Electronic Medical Records – typically contains noisy, sparse, and irregularly timed observations, rendering them poor substrates for deep learning methods. Our approach couples dirty clinical data to deep learning architecture via longitudinal probability densities inferred using Gaussian process regression. From episodic, longitudinal sequences of serum uric acid measurements in 4368 individuals we produced continuous phenotypic features that suggest multiple population subtypes, and that accurately distinguished (0.97 AUC) the uric-acid signatures of gout vs. acute leukemia despite not being optimized for the task. The unsupervised features were as accurate as gold-standard features engineered by an expert with complete knowledge of the domain, the classification task, and the class labels. Our findings demonstrate the potential for achieving computational phenotype discovery at population scale. We expect such data-driven phenotypes to expose unknown disease variants and subtypes and to provide rich targets for genetic association studies. PMID:23826094

  11. The pathogenesis of the clinical features of oral-facial-digital syndrome type I

    PubMed Central

    AlKattan, Wael M.; Al-Qattan, Mohammad M.; Bafaqeeh, Sameer A.

    2015-01-01

    Oral-facial-digital syndrome type I (OFDI) is an X-linked syndrome, which has several craniofacial and limb features; and hence, patients frequently present to craniofacial and plastic surgeons. Oral-facial-digital syndrome type I is caused by mutations in the CXORF5 gene. The gene product is one of the basal body proteins of a slim microtubule-based organelle called the “primary cilium”. Most of the clinical features of OFDI patients are related to dysfunctions of the primary cilium leading to abnormal Hedgehog signal transduction, depressed planar cell polarity pathway, and errors in cell cycle control. PMID:26593159

  12. Systems Medicine: from molecular features and models to the clinic in COPD

    PubMed Central

    2014-01-01

    Background and hypothesis Chronic Obstructive Pulmonary Disease (COPD) patients are characterized by heterogeneous clinical manifestations and patterns of disease progression. Two major factors that can be used to identify COPD subtypes are muscle dysfunction/wasting and co-morbidity patterns. We hypothesized that COPD heterogeneity is in part the result of complex interactions between several genes and pathways. We explored the possibility of using a Systems Medicine approach to identify such pathways, as well as to generate predictive computational models that may be used in clinic practice. Objective and method Our overarching goal is to generate clinically applicable predictive models that characterize COPD heterogeneity through a Systems Medicine approach. To this end we have developed a general framework, consisting of three steps/objectives: (1) feature identification, (2) model generation and statistical validation, and (3) application and validation of the predictive models in the clinical scenario. We used muscle dysfunction and co-morbidity as test cases for this framework. Results In the study of muscle wasting we identified relevant features (genes) by a network analysis and generated predictive models that integrate mechanistic and probabilistic models. This allowed us to characterize muscle wasting as a general de-regulation of pathway interactions. In the co-morbidity analysis we identified relevant features (genes/pathways) by the integration of gene-disease and disease-disease associations. We further present a detailed characterization of co-morbidities in COPD patients that was implemented into a predictive model. In both use cases we were able to achieve predictive modeling but we also identified several key challenges, the most pressing being the validation and implementation into actual clinical practice. Conclusions The results confirm the potential of the Systems Medicine approach to study complex diseases and generate clinically relevant predictive models. Our study also highlights important obstacles and bottlenecks for such approaches (e.g. data availability and normalization of frameworks among others) and suggests specific proposals to overcome them. PMID:25471042

  13. Clinical Efficacy of Various Diagnostic Tests for Small Bowel Tumors and Clinical Features of Tumors Missed by Capsule Endoscopy

    PubMed Central

    Han, Jung Wan; Hong, Sung Noh; Jang, Hyun Joo; Jeon, Seong Ran; Cha, Jae Myung; Park, Soo Jung; Byeon, Jung Sik; Ko, Bong Min; Kim, Eun Ran; Choi, Hwang; Chang, Dong Kyung

    2015-01-01

    Background. We aimed to evaluate the efficacy of various diagnostic tools such as computerized tomography (CT), small bowel follow-through (SBFT), and capsule endoscopy (CE) in diagnosing small bowel tumors (SBTs). Additionally, we aimed to evaluate the clinical features of SBTs missed by CE. Methods. We retrospectively studied 79 patients with histologically proven SBT. Clinical data were analyzed with particular attention to the efficacy of CT, SBFT, and CE in detecting SBT preoperatively. We also analyzed the clinical features of SBTs missed by CE. Results. The most common symptoms of SBT were bleeding (43%) and abdominal pain (13.9%). Diagnostic yields were as follows: CT detected 55.8% of proven SBTs; SBFT, 46.1%; and CE, 83.3%. The sensitivity for detecting SBTs was 40.4% for CT, 43.9% for SBFT, and 79.6% for CE. Two patients with nondiagnostic but suspicious findings on CE and seven patients with negative findings on CE were eventually found to have SBT. These nine patients were eventually diagnosed with gastrointestinal stromal tumor (4), small polyps (3), inflammatory fibroid polyp (1), and adenocarcinoma (1). These tumors were located in the proximal jejunum (5), middle jejunum (1), distal jejunum (1), and proximal ileum (1). Conclusion. CE is more efficacious than CT or SBFT for detecting SBTs. However, significant tumors may go undetected with CE, particularly when located in the proximal jejunum. PMID:26229529

  14. Coarctation of the aorta in adolescents and adults: A review of clinical features and CT imaging.

    PubMed

    Nance, John W; Ringel, Richard E; Fishman, Elliot K

    2016-01-01

    Coarctation of the aorta (CoA), while usually identified and treated in the neonatal/infant period, is increasingly seen in adults, either primarily or (more often) following repair. Imaging plays a crucial role in the diagnosis, therapeutic planning, and follow-up of patients with CoA. Clinical management of CoA in adults optimally involves a multidisciplinary team; accordingly, imagers should be familiar with the underlying pathology, associations, and management of CoA in addition to imaging protocoling and interpretation. We will review the relevant clinical and imaging features of CoA, with an emphasis on patients beyond childhood. PMID:26639936

  15. MR Imaging of Pregnancy Luteoma: a Case Report and Correlation with the Clinical Features

    PubMed Central

    Kao, Hung-Wen; Chung, Kuo-Teng; Wang, Sheng-Ru; Chen, Cheng-Yu

    2005-01-01

    We report here on a 26-year-old pregnant female who developed hirsutism and virilization during her third trimester along with a significantly elevated serum testosterone level. Abdominal US and MR imaging studies were performed, and they showed unique imaging features that may suggest the diagnosis of pregnancy luteoma in the clinical context. After the delivery, the serum testosterone level continued to decrease, and it returned to normal three weeks postpartum. The follow-up imaging findings were closely correlated with the clinical presentation. PMID:15782020

  16. Differences in Clinical Features According to Boryoung and Karp Genotypes of Orientia tsutsugamushi

    PubMed Central

    Yun, Na Ra; Neupane, Ganesh Prasad; Shin, Sung Heui; Ryu, So Yeon; Wie, Seong Heon; Kim, Woo Jin; Lee, Chang Youl; Choi, Jong Soo; Yang, Tae Young

    2011-01-01

    Background Scrub typhus is an infectious disease caused by Orientia tsutsugamushi. The differences in virulence of O. tsutsugamushi prototypes in humans are still unknown. We investigated whether there are any differences in the clinical features of the Boryoung and Karp genotypes. Methodology/Principal Findings Patients infected with O. tsutsugamushi, as Boryoung and Karp clusters, who had visited 6 different hospitals in southwestern Korea were prospectively compared for clinical features, complications, laboratory parameters, and treatment responses. Infected patients in the Boryoung cluster had significantly more generalized weakness, eschars, skin rashes, conjunctival injection, high albumin levels, and greater ESR and fibrinogen levels compared to the Karp cluster. The treatment response to current antibiotics was significantly slower in the Karp cluster as compared to the Boryoung cluster. Conclusion The frequency of occurrence of eschars and rashes may depend on the genotype of O. tsutsugamushi. PMID:21857951

  17. Management of Two Juvenile Myelomonocytic Leukemia Patients According to Clinical and Genetic Features

    PubMed Central

    Tüfekçi, Özlem; Ören, Hale; Yenigürbüz, Fatma Demir; Gözmen, Salih; Karap?nar, Tuba Hilkay; ?rken, Gülersu

    2015-01-01

    Juvenile myelomonocytic leukemia (JMML) is a rare clonal myeloproliferative disorder of childhood. Major progress has been achieved in diagnosis and the understanding of the pathogenesis of JMML by identifying the genetic pathologies that occur in patients. Mutations of RAS, NF1, PTPN11, and CBL are found in approximately 80% of JMML patients. Distinct clinical features have been reported to be associated with specific gene mutations. The advent of genomic studies and recent identification of novel genetic mutations in JMML are important not only in diagnosis but also in the management and prognosis of the disease. Herein, we present 2 patients with JMML harboring different mutations, NRAS and c-CBL, respectively, with distinct clinical features and different therapeutic approaches. PMID:26316488

  18. Frontotemporal dementia with the C9ORF72 hexanucleotide repeat expansion: clinical, neuroanatomical and neuropathological features

    PubMed Central

    Mahoney, Colin J.; Beck, Jon; Rohrer, Jonathan D.; Lashley, Tammaryn; Mok, Kin; Shakespeare, Tim; Yeatman, Tom; Warrington, Elizabeth K.; Schott, Jonathan M.; Fox, Nick C.; Rossor, Martin N.; Hardy, John; Collinge, John; Revesz, Tamas; Mead, Simon

    2012-01-01

    An expanded hexanucleotide repeat in the C9ORF72 gene has recently been identified as a major cause of familial frontotemporal lobar degeneration and motor neuron disease, including cases previously identified as linked to chromosome 9. Here we present a detailed retrospective clinical, neuroimaging and histopathological analysis of a C9ORF72 mutation case series in relation to other forms of genetically determined frontotemporal lobar degeneration ascertained at a specialist centre. Eighteen probands (19 cases in total) were identified, representing 35% of frontotemporal lobar degeneration cases with identified mutations, 36% of cases with clinical evidence of motor neuron disease and 7% of the entire cohort. Thirty-three per cent of these C9ORF72 cases had no identified relevant family history. Families showed wide variation in clinical onset (43–68 years) and duration (1.7–22 years). The most common presenting syndrome (comprising a half of cases) was behavioural variant frontotemporal dementia, however, there was substantial clinical heterogeneity across the C9ORF72 mutation cohort. Sixty per cent of cases developed clinical features consistent with motor neuron disease during the period of follow-up. Anxiety and agitation and memory impairment were prominent features (between a half to two-thirds of cases), and dominant parietal dysfunction was also frequent. Affected individuals showed variable magnetic resonance imaging findings; however, relative to healthy controls, the group as a whole showed extensive thinning of frontal, temporal and parietal cortices, subcortical grey matter atrophy including thalamus and cerebellum and involvement of long intrahemispheric, commissural and corticospinal tracts. The neuroimaging profile of the C9ORF72 expansion was significantly more symmetrical than progranulin mutations with significantly less temporal lobe involvement than microtubule-associated protein tau mutations. Neuropathological examination in six cases with C9ORF72 mutation from the frontotemporal lobar degeneration series identified histomorphological features consistent with either type A or B TAR DNA-binding protein-43 deposition; however, p62-positive (in excess of TAR DNA-binding protein-43 positive) neuronal cytoplasmic inclusions in hippocampus and cerebellum were a consistent feature of these cases, in contrast to the similar frequency of p62 and TAR DNA-binding protein-43 deposition in 53 control cases with frontotemporal lobar degeneration–TAR DNA-binding protein. These findings corroborate the clinical importance of the C9ORF72 mutation in frontotemporal lobar degeneration, delineate phenotypic and neuropathological features that could help to guide genetic testing, and suggest hypotheses for elucidating the neurobiology of a culprit subcortical network. PMID:22366791

  19. Clinical features of acute infantile gastroenteritis associated with human rotavirus subgroups I and II.

    PubMed Central

    Steele, A D; Bos, P; Alexander, J J

    1988-01-01

    During a prospective 3-year study, clinical and epidemiological features of rotavirus gastroenteritis in black infants were investigated. Fever and temperatures exceeding 39 degrees C were more frequent in children shedding subgroup II rotaviruses, whereas vomiting was more pronounced in children with subgroup I infection. Diarrhea, dehydration, duration of illness, and the need for admission to a hospital ward were similar in both groups. PMID:2852676

  20. Basal Cell Carcinoma: Pathogenesis, Epidemiology, Clinical Features, Diagnosis, Histopathology, and Management

    PubMed Central

    Marzuka, Alexander G.; Book, Samuel E.

    2015-01-01

    Basal cell carcinoma (BCC) is the most common malignancy. Exposure to sunlight is the most important risk factor. Most, if not all, cases of BCC demonstrate overactive Hedgehog signaling. A variety of treatment modalities exist and are selected based on recurrence risk, importance of tissue preservation, patient preference, and extent of disease. The pathogenesis, epidemiology, clinical features, diagnosis, histopathology, and management of BCC will be discussed in this review. PMID:26029015

  1. Intra-diverticular bladder cancer: CT imaging features and their association with clinical outcomes

    PubMed Central

    Di Paolo, Pier Luigi; Vargas, Hebert Alberto; Karlo, Christoph A.; Lakhman, Yulia; Zheng, Junting; Moskowitz, Chaya S.; Al-Ahmadie, Hikmat A.; Sala, Evis; Bochner, Bernard H.; Hricak, Hedvig

    2014-01-01

    Objectives evaluate if CT features of intra-diverticular bladder cancer can predict clinical outcome. Methods retrospective study of 34 patients with intra-diverticular bladder cancer. Two radiologists independently evaluated all CT exams. Results CT tumor length and width were significantly associated with survival for both readers (HRs 1.31–1.62, p<0.001–0.043). No other tumor features were significantly associated with survival. The inter-reader agreement for the assessment of CT features was fair to substantial (k=0.34–0.78; CCC=0.56–0.66). There was no association between TUR pathology stage and survival (HR 2.10; p=0.21). Conclusions In patients with intra-diverticular bladder cancer, the tumor length and width measured on the pre-treatment CT predicted survival. PMID:25457532

  2. Cranial dystonia, blepharospasm and hemifacial spasm: clinical features and treatment, including the use of botulinum toxin.

    PubMed Central

    Kraft, S P; Lang, A E

    1988-01-01

    Blepharospasm, the most frequent feature of cranial dystonia, and hemifacial spasm are two involuntary movement disorders that affect facial muscles. The cause of blepharospasm and other forms of cranial dystonia is not known. Hemifacial spasm is usually due to compression of the seventh cranial nerve at its exit from the brain stem. Cranial dystonia may result in severe disability. Hemifacial spasm tends to be much less disabling but may cause considerable distress and embarrassment. Patients affected with these disorders are often mistakenly considered to have psychiatric problems. Although the two disorders are quite distinct pathophysiologically, therapy with botulinum toxin has proven very effective in both. We review the clinical features, proposed pathophysiologic features, differential diagnosis and treatment, including the use of botulinum toxin, of cranial dystonia and hemifacial spasm. Images Fig. 2 Fig. 3 PMID:3052771

  3. Clinical Characteristics and Features of Frequent Idiopathic Ventricular Premature Complexes in the Korean Population

    PubMed Central

    Hwang, Jin Kyung; Park, Seung-Jung; On, Young Keun; Kim, June Soo

    2015-01-01

    Background and Objectives Frequent ventricular premature complexes (VPCs) increase the risk of cardiomyopathy (CMP). However, most data regarding VPCs have been obtained from Western population and in-hospital patient-based studies. The objective of this study was to define the clinical characteristics and features of idiopathic VPCs in the Korean population. Subjects and Methods We investigated subjects undergoing transthoracic echocardiography and documented VPC burdens >1% by Holter monitoring in an outpatient clinic at Samsung Medical Center, Korea. We analyzed demographic and clinical features and the nature of the VPCs by electrocardiography (ECG). Results A total of 666 patients were registered. Mean age was 54.7±16.8 years, and 365 (54.8%) patients were female. Typical VPC-related symptoms, such as palpitation and a dropped beat, were observed in 394 (59.2%) patients. Some patients received beta-blockers (n=95; 14.3%) and anti-arrhythmic agents (n=14; 2.1%). The ECG analysis was performed in 405 patients; 322 (79.5%) exhibited left bundle branch block (LBBB) and 347 (85.8%) exhibited an inferior axis. The precordial R-wave transition was predominantly distributed over V3 in 230 patients (56.6%). Thirty-one patients (4.5%) were diagnosed with VPC-induced CMP. Conclusion The incidence of frequent VPCs was slightly higher in females, and palpitation was the most frequent complaint. The most common ECG features were LBBB, inferior axis, and late precordial R-wave transition. PMID:26413107

  4. Metastatic ductal adenocarcinoma of the prostate: cytologic features and clinical findings.

    PubMed

    Gong, Yun; Caraway, Nancy; Stewart, John; Staerkel, Gregg

    2006-08-01

    We retrospectively reviewed the cytologic features of metastatic prostatic ductal carcinoma (PDC) in 23 cases, clinical manifestations, and clinical outcomes. Cytologic smears typically showed tumor cells with abundant cytoplasm and oval nuclei arranged in papillary groups or flat and folded sheets, some of which showed peripheral nuclear palisading. However, these features could be focal, subtle, and even indistinguishable from those of acinar carcinoma, particularly when the ductal component was predominantly of a cribriform and solid pattern or coexisted with acinar carcinoma. A determination of a prostatic origin of a metastatic PDC, based on cytomorphologic features alone, could be difficult. Immunostaining for prostate-specific antigen and prostatic acid phosphatase proved helpful in determining a definitive diagnosis. The median followup of patients was 82 months, the median overall survival was 77 months, and the 5-year overall survival rate was 72%. Tumor growth pattern did not correlate with prognosis, but visceral metastasis conveyed a poor prognosis. The correlation with clinical and radiologic findings, a high index of suspicion, and the use of immunoperoxidase studies are important in making an accurate diagnosis. PMID:16891207

  5. Clinical Features and Prognostic Factors of Hodgkin’s Lymphoma: A Single Center Experience

    PubMed Central

    K?l?çkap, Saadettin; Bar??ta, ?brahim; Ülger, ?ükran; Çelik, ?smail; Selek, U?ur; Y?ld?z, Ferah; Kars, Ay?e; Öz???k, Yavuz; Tekuzman, Gülten

    2013-01-01

    Background: Hodgkin’s lymphoma (HL) is a B cell lymphoma characterized by the presence of Reed-Sternberg cells. HL comprises 1% of all cancer cases and 14% of all lymphoma cases. Aims: We designed a retrospective study to investigate the clinical features and prognostic factors of HL patients diagnosed at an experienced oncology centre. Study Design: Retrospective study. Methods: Demographic characteristics, histopathological and clinical features, treatment modalities and response to treatment were obtained from hospital records. Dates of initial diagnosis, remission and relapse, last visit and death were recorded for survival analyses. Results: We analysed data of 391 HL patients (61% male, 39% female; mean age 35.7±15.1 years). The most common classical HL histological subtype was nodular sclerosing HL (NSHL) (42.7%). The most common stage was II 50.4%. The most common chemotherapy regimen was doxorubicin, bleomycin, vinblastine and dacarbazine (ABVD) (70.6%). Five and 10-year survival rates were 90% and 84%, respectively. Early-stage patients with good prognostic factors had better overall and relapse-free survival rates. The presence of “B” symptoms, albumin level, Eastern Cooperative Oncology Group (ECOG) performance score, and LDH were prognostic factors that affect the survival in both univariate and multivariate analyses. Conclusion: This is the first study that demonstrates the demographic, clinical and prognostic features of HL patients in Turkey, and provides a general picture of the HL patients in our country. PMID:25207097

  6. Sex Differences in Clinical Features of Early, Treated Parkinson’s Disease

    PubMed Central

    Augustine, Erika F.; Pérez, Adriana; Dhall, Rohit; Umeh, Chizoba C.; Videnovic, Aleksandar; Cambi, Franca; Wills, Anne-Marie A.; Elm, Jordan J.; Zweig, Richard M.; Shulman, Lisa M.; Nance, Martha A.; Bainbridge, Jacquelyn; Suchowersky, Oksana

    2015-01-01

    Introduction To improve our understanding of sex differences in the clinical characteristics of Parkinson’s Disease, we sought to examine differences in the clinical features and disease severity of men and women with early treated Parkinson’s Disease (PD) enrolled in a large-scale clinical trial. Methods Analysis was performed of baseline data from the National Institutes of Health Exploratory Trials in Parkinson’s Disease (NET-PD) Long-term Study-1, a randomized, multi-center, double-blind, placebo-controlled study of 10 grams of oral creatine/day in individuals with early, treated PD. We compared mean age at symptom onset, age at PD diagnosis, and age at randomization between men and women using t-test statistics. Sex differences in clinical features were evaluated, including: symptoms at diagnosis (motor) and symptoms at randomization (motor, non-motor, and daily functioning). Results 1,741 participants were enrolled (62.5% male). No differences were detected in mean age at PD onset, age at PD diagnosis, age at randomization, motor symptoms, or daily functioning between men and women. Differences in non-motor symptoms were observed, with women demonstrating better performance compared to men on SCOPA-COG (Z = 5.064, p<0.0001) and Symbol Digit Modality measures (Z = 5.221, p<0.0001). Conclusions Overall, men and women did not demonstrate differences in clinical motor features early in the course of PD. However, the differences observed in non-motor cognitive symptoms suggests further assessment of the influence of sex on non-motor symptoms in later stages of PD is warranted. PMID:26171861

  7. Fractographic features of glass-ceramic and zirconia-based dental restorations fractured during clinical function.

    PubMed

    Oilo, Marit; Hardang, Anne D; Ulsund, Amanda H; Gjerdet, Nils R

    2014-06-01

    Fractures during clinical function have been reported as the major concern associated with all-ceramic dental restorations. The aim of this study was to analyze the fracture features of glass-ceramic and zirconia-based restorations fractured during clinical use. Twenty-seven crowns and onlays were supplied by dentists and dental technicians with information about type of cement and time in function, if available. Fourteen lithium disilicate glass-ceramic restorations and 13 zirconia-based restorations were retrieved and analyzed. Fractographic features were examined using optical microscopy to determine crack initiation and crack propagation of the restorations. The material comprised fractured restorations from one canine, 10 incisors, four premolars, and 11 molars. One crown was not categorized because of difficulty in orientation of the fragments. The results revealed that all core and veneer fractures initiated in the cervical margin and usually from the approximal area close to the most coronally placed curvature of the margin. Three cases of occlusal chipping were found. The margin of dental all-ceramic single-tooth restorations was the area of fracture origin. The fracture features were similar for zirconia, glass-ceramic, and alumina single-tooth restorations. Design features seem to be of great importance for fracture initiation. PMID:24698173

  8. Fractographic features of glass-ceramic and zirconia-based dental restorations fractured during clinical function

    PubMed Central

    Øilo, Marit; Hardang, Anne D; Ulsund, Amanda H; Gjerdet, Nils R

    2014-01-01

    Fractures during clinical function have been reported as the major concern associated with all-ceramic dental restorations. The aim of this study was to analyze the fracture features of glass-ceramic and zirconia-based restorations fractured during clinical use. Twenty-seven crowns and onlays were supplied by dentists and dental technicians with information about type of cement and time in function, if available. Fourteen lithium disilicate glass-ceramic restorations and 13 zirconia-based restorations were retrieved and analyzed. Fractographic features were examined using optical microscopy to determine crack initiation and crack propagation of the restorations. The material comprised fractured restorations from one canine, 10 incisors, four premolars, and 11 molars. One crown was not categorized because of difficulty in orientation of the fragments. The results revealed that all core and veneer fractures initiated in the cervical margin and usually from the approximal area close to the most coronally placed curvature of the margin. Three cases of occlusal chipping were found. The margin of dental all-ceramic single-tooth restorations was the area of fracture origin. The fracture features were similar for zirconia, glass-ceramic, and alumina single-tooth restorations. Design features seem to be of great importance for fracture initiation. PMID:24698173

  9. Genomic Features of Environmental and Clinical Vibrio parahaemolyticus Isolates Lacking Recognized Virulence Factors Are Dissimilar.

    PubMed

    Ronholm, J; Petronella, N; Chew Leung, C; Pightling, A W; Banerjee, S K

    2015-01-01

    Vibrio parahaemolyticus is a bacterial pathogen that can cause illness after the consumption or handling of contaminated seafood. The primary virulence factors associated with V. parahaemolyticus illness are thermostable direct hemolysin (TDH) and Tdh-related hemolysin (TRH). However, clinical strains lacking tdh and trh have recently been isolated, and these clinical isolates are poorly understood. To help understand the emergence of clinical tdh- and trh-negative isolates, a genomic approach was used to comprehensively compare 4 clinical tdh- and trh-negative isolates with 16 environmental tdh- and trh-negative isolates and 34 clinical isolates positive for tdh or trh, or both, with the objective of identifying genomic features that are unique to clinical tdh- and trh-negative isolates. The prevalence of pathogenicity islands (PAIs) common to clinical isolates was thoroughly examined in each of the clinical tdh- and trh-negative isolates. The tdh PAI was not present in any clinical or environmental tdh- and trh-negative isolates. The trh PAI was not present in any environmental isolates; however, in clinical tdh- and trh-negative isolate 10-4238, the majority of the trh PAI including a partial trh1 gene was present, which resulted in reclassification of this isolate as a tdh-negative and trh-positive isolate. In the other clinical tdh- and trh-negative isolates, neither the trh gene nor the trh PAI was present. We identified 862 genes in clinical tdh- and trh-negative isolates but not in environmental tdh- and trh-negative isolates. Many of these genes are highly homologous to genes found in common enteric bacteria and included genes encoding a number of chemotaxis proteins and a novel putative type VI secretion system (T6SS) effector and immunity protein (T6SS1). The availability of genome sequences from clinical V. parahaemolyticus tdh- and trh-negative isolates and the comparative analysis may help provide an understanding of how this pathotype is able to survive in vivo during clinical illness. PMID:26637607

  10. Relapsing Polychondritis: an Update on Pathogenesis, Clinical Features, Diagnostic Tools, and Therapeutic Perspectives.

    PubMed

    Vitale, Antonio; Sota, Jurgen; Rigante, Donato; Lopalco, Giuseppe; Molinaro, Francesco; Messina, Mario; Iannone, Florenzo; Cantarini, Luca

    2016-01-01

    Relapsing polychondritis is a rare multisystemic disease widely accepted as a complex autoimmune disorder affecting proteoglycan-rich structures and cartilaginous tissues, especially the auricular pinna, cartilage of the nose, tracheobronchial tree, eyes, and heart's connective components. The clinical spectrum may vary from intermittent inflammatory episodes leading to unesthetic structural deformities to life-threatening cardiopulmonary manifestations, such as airway collapse and valvular regurgitation. The frequent association with other rheumatologic and hematologic disorders has been extensively reported over time, contributing to define its complexity at a diagnostic and also therapeutic level. Diagnosis of relapsing polychondritis is mainly based on clinical clues, while laboratory data have only a supportive contribution. Conversely, radiology is showing a relevant role in estimating the rate of systemic involvement as well as disease activity. The present review is aimed at providing an update on scientific data reported during the last 3 years about relapsing polychondritis in terms of pathogenesis, clinical features, diagnosis, and new treatment options. PMID:26711694

  11. Interstitial Mycosis Fungoides With Lichen Sclerosus-Like Clinical and Histopathological Features.

    PubMed

    Tekin, Burak; Kempf, Werner; Seckin, Dilek; Ergun, Tulin; Yucelten, Deniz; Demirkesen, Cuyan

    2016-02-01

    Mycosis fungoides (MF) simulates a variety of dermatologic disorders histopathologically and clinically, well deserving the designation of a great mimicker. Interstitial MF is a rare, but well-recognized histopathological variant resembling the interstitial form of granuloma annulare or the inflammatory phase of morphea. From a clinical standpoint, MF can have a wide array of manifestations, including an anecdotal presentation with lesions clinically suggestive of lichen sclerosus (LS). We herein report a 25-year-old man with a history of patch-stage MF who later developed widespread LS-like lesions histopathologically consistent with interstitial MF. In some biopsies, additional features resembling LS were discerned. We think that our case might represent a unique variant of interstitial MF presenting with LS-like lesions. The diagnostic challenge arising from this uncommon presentation is discussed together with review of the literature. PMID:26630682

  12. Early-onset psychoses: comparison of clinical features and adult outcome in 3 diagnostic groups.

    PubMed

    Ledda, Maria Giuseppina; Fratta, Anna Lisa; Pintor, Manuela; Zuddas, Alessandro; Cianchetti, Carlo

    2009-09-01

    A comparison of clinical features and adult outcome in adolescents with three types of psychotic disorders: schizophrenic (SPh), schizoaffective (SA) and bipolar with psychotic features (BPP). Subjects (n = 41) were finally diagnosed (DSM-IV criteria) with SPh (n = 17), SA (n = 11) or BPP (n = 13). Clinical evaluation took place at onset and at a 3-year follow-up in all 41, and at least after 5 years in 36 patients. Symptoms were rated on the basis of the Positive and Negative Syndrome Scale (PANSS), integrating items from the Brief Psychiatric Rating Scale (BPRS) and the Kiddie Schedule for Affective Disorders and Schizophrenia for School-Age Children-Present and Lifetime Version (K-SADS-PL). The Children Global Assessment Scale (C-GAS) and the Global Assessment Scale (GAF) were used to evaluate global functioning. Significant differences in clinical features were found in the three diagnostic groups as regards several parameters, some present on one and not on other rating scales, underscoring the insufficiency of a single scale for accurate analysis of the features of a psychotic disorder. At onset, a comparison using the simple presence/absence of symptoms showed scant differences among groups, while differences emerged if symptom severity was included in the comparison. Functioning at 3- and 5-year follow-ups showed a significantly better outcome in the BPP group and more substantial deterioration, with similar evolution, in the SPh and SA groups. The integration of several rating scales differentiated between diagnostic groups more effectively. The similar adult functioning outcome in the SPh and SA groups showed how difficult it is to clearly separate these two disorders. PMID:19280338

  13. Magmatic-driven manifestations on Mars exemplified at central Valles Marineris, Melas Chasma, and Claritas rise.

    NASA Astrophysics Data System (ADS)

    Dohm, James

    2010-05-01

    Regions on Mars display magmatic-driven manifestations through detailed geologic mapping investigations. Such manifestations include uplift and related tectonic deformation, which includes possible hydrothermal activity. This activity is best exemplified at the central part of Valles Marineris (Melas Chasma and surroundings) and Claritas rise, both of which occur in the Tharsis region. Melas Chasma, for example, displays a prominent MOLA-based topographic rise, consistent with Viking-era geologic mapping investigations that unfolded magmatic-driven tectonism, HiRISE-identified landforms on the floors of the canyons that are interpreted to reveal a volcanic field on the floor of Melas Chasma, CRISM-based identification of sulfate-rich outcrops, which could be indicative of hydrothermal deposits, GRS K/Th signature interpreted as either ice-magma interactions and/or variations in rock composition, and geophysical evidence that may indicate partial compensation of the canyon and/or higher density intrusives beneath it. The other example, Claritas rise, displays a well-defined, highly deformed promontory located to the south of Syria Planum along a crustal/lithospheric zone of weakness. Claritas rise is interpreted to be basement complex among other rock types, a center of tectonism, which includes the greatest percentage of faults preserved in Noachian materials, a distinct spectroscopic signature, including Fe/Mg-rich hydrated phyllosilicates, as well as serpentine, when compared to the well-defined lava flows of Syria and Solis Planae, a possible magnetic signature, and geophysical results consistent with dense igneous material formed on a weak, thin elastic lithosphere early in Martian history when heat flow from the planet's interior was high. Both sites, which may include the interaction of water and magma, are considered prime candidate sites for future exploration of Mars.

  14. N-isopropyl-p-( sup 123 I)iodoamphetamine SPECT in MELAS syndrome: Comparison with CT and MR imaging

    SciTech Connect

    Satoh, M.; Ishikawa, N.; Yoshizawa, T.; Takeda, T.; Akisada, M. )

    1991-01-01

    Regional cerebral perfusion was studied in three patients with the mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes (MELAS) syndrome, using single photon emission computed tomography (SPECT) with N-isopropyl-p-(123I)iodoamphetamine (IMP). Accumulation of the tracer was relatively decreased in the parietooccipital regions and also in the frontotemporal regions after stroke-like episodes. However, quantitative regional cerebral blood flow (rCBF) measurement showed that rCBF was relatively well preserved even at these sites, and a hyperemic state was observed at the sites of normal accumulation. IMP SPECT may be useful in the diagnosis and assessment of the progress of the MELAS syndrome.

  15. MELAS, an important consideration in the adult population presenting with unusual and recurrent stroke-like episodes

    PubMed Central

    Corr, Alison; Gaughan, Maria; Moroney, Joan; Looby, Seamus

    2014-01-01

    A 48-year-old man was admitted for workup of stroke-like symptoms and generalised tonic–clonic seizures. History and examination revealed that the patient had background diagnoses of type 2 diabetes mellitus, epilepsy and had suffered a temporal lobe infarct 3?years ago. The unusual presentation and physical findings, along with subsequent MRI findings led to a diagnosis of mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes (MELAS). MELAS is a mitochondrial disorder typified by the aforementioned symptoms, and is typically diagnosed in the first two decades of life. PMID:24473421

  16. Clinical features and risk factors of patients with fatty liver in Guangzhou area

    PubMed Central

    Chen, Qi-Kui; Chen, Hai-Ying; Huang, Kai-Hong; Zhong, Ying-Qiang; Han, Ji-Ao; Zhu, Zhao-Hua; Zhou, Xiao-Dong

    2004-01-01

    AIM: There is still no accepted conclusion regarding the clinical features and related risk factors of patients with fatty liver. The large-scale clinical studies have not carried out yet in Guangzhou area. The aim of the present study was to investigate the clinical features and related risk factors of patients with fatty liver in Guangzhou area. METHODS: A total of 413 cases with fatty liver were enrolled in the study from January 1998 to May 2002. Retrospective case-control study was used to evaluate the clinical features and related risk factors of fatty liver with logistic regression. RESULTS: Obesity (OR: 21.204), alcohol abuse (OR: 18.601), type 2 diabetes mellitus (OR: 4.461), serum triglyceride (TG) (OR: 3.916), serum low-density lipoprotein cholesterol (LDL-C) (OR: 1.840) and fasting plasma glucose (FPG) (OR: 1.535) were positively correlated to the formation of the fatty liver. The levels of serum alanine aminotransferase (ALT) and gamma-glutamyltransferase (GGT) increased mildly in the patients with fatty liver and were often less than 2-fold of the normal limit. The higher abnormalities of aspartate aminotransferase (AST) levels (42.9%) with AST/ALT more than 2(17.9%) were found in patients with alcoholic fatty liver (AFL) than those with nonalcoholic fatty liver (NAFL) (16.9% and 5.0% respectively). The elevation of serum TG, cholesterol (CHOL), LDL-C was more common in patients with NAFL than with AFL. CONCLUSION: Obesity, alcohol abuse, type 2 diabetes mellitus and hyperlipidemia may be independent risk factors of fatty liver. The mildly abnormal hepatic functions can be found in patients with fatty liver. More obvious damages of liver function with AST/ALT usually more than 2 were noted in patients with AFL. PMID:15040041

  17. Clinical and Dermoscopic Features of 88 Scalp Nevi in 39 Children

    PubMed Central

    Tcheung, W.J.; Bellet, J.S.; Prose, N.S.; Cyr, D.D.; Nelson, K.C.

    2011-01-01

    Summary Background Paediatric scalp nevi may represent a source of anxiety for practitioners and parents, as the clinical and dermoscopic features of typical nevi have yet to be defined. Prompted by concern about the large size, irregular borders, and colour variation of scalp nevi, clinicians and parents may request unnecessary excision of these nevi. Objective The purpose of this study is to establish the typical clinical and dermoscopic patterns of scalp nevi in children younger than 18 years old to help optimize clinical care and management. Methods Scalp nevi were imaged with a camera (Canon Rebel, XSi) and dermoscopic attachment (3Gen, Dermlite Foto, 30mm lens) to the camera. The clinical and dermoscopic images were reviewed and analyzed. Both acquired and congenital scalp nevi were included but were not further differentiated from each other. Results We obtained clinical and dermoscopic images of 88 scalp nevi in 39 Caucasian children. Two subjects had received chronic immunosuppressive medication. Nineteen children have had a family history of melanoma. Males (18/39 subjects, 46%) possessed 68% (60 nevi) of scalp nevi imaged. Younger (<10 years old) subjects (24/39 subjects, 62%) possessed 42% (37 nevi) of scalp nevi. The main clinical patterns included eclipse (n=18), cockade (n=3), solid brown (n=42), and solid pink (n=25) nevi. Solid-coloured nevi showed the following dermoscopic patterns: globular (57%), complex (reticular-globular) (27%), reticular (9%), homogenous (6%), and fibrillar (1%). The majority of nevi had a unifying feature—perifollicular hypopigmentation, which caused the appearance of scalloped, irregular borders if occurring on the periphery, or variegation in pigmentation, if occurring within the nevi. Conclusions Older subjects and males tend to harbour a larger proportion of scalp nevi. The main clinical patterns include solid-coloured and eclipse nevi. The most common dermoscopic pattern of scalp nevi is the globular pattern. Perifollicular hypopigmentation is a hallmark feature of signature scalp nevi. Dermoscopy is a non-invasive tool in the evaluation of cutaneous melanocytic lesions in children and may decrease the number of unnecessary excisions. PMID:21410662

  18. Feasibility of feature-based indexing, clustering, and search of clinical trials: A case study of breast cancer trials from ClinicalTrials.gov

    PubMed Central

    Boland, Mary Regina; Miotto, Riccardo; Gao, Junfeng; Weng, Chunhua

    2013-01-01

    Summary Background When standard therapies fail, clinical trials provide experimental treatment opportunities for patients with drug-resistant illnesses or terminal diseases. Clinical Trials can also provide free treatment and education for individuals who otherwise may not have access to such care. To find relevant clinical trials, patients often search online; however, they often encounter a significant barrier due to the large number of trials and in-effective indexing methods for reducing the trial search space. Objectives This study explores the feasibility of feature-based indexing, clustering, and search of clinical trials and informs designs to automate these processes. Methods We decomposed 80 randomly selected stage III breast cancer clinical trials into a vector of eligibility features, which were organized into a hierarchy. We clustered trials based on their eligibility feature similarities. In a simulated search process, manually selected features were used to generate specific eligibility questions to filter trials iteratively. Results We extracted 1,437 distinct eligibility features and achieved an inter-rater agreement of 0.73 for feature extraction for 37 frequent features occurring in more than 20 trials. Using all the 1,437 features we stratified the 80 trials into six clusters containing trials recruiting similar patients by patient-characteristic features, five clusters by disease-characteristic features, and two clusters by mixed features. Most of the features were mapped to one or more Unified Medical Language System (UMLS) concepts, demonstrating the utility of named entity recognition prior to mapping with the UMLS for automatic feature extraction. Conclusions It is feasible to develop feature-based indexing and clustering methods for clinical trials to identify trials with similar target populations and to improve trial search efficiency. PMID:23666475

  19. Childhood Ataxia: Clinical Features, Pathogenesis, Key Unanswered Questions, and Future Directions

    PubMed Central

    Ashley, Claire N.; Hoang, Kelly D.; Lynch, David R.; Perlman, Susan L.; Maria, Bernard L.

    2013-01-01

    Childhood ataxia is characterized by impaired balance and coordination primarily due to cerebellar dysfunction. Friedreich ataxia, a form of childhood ataxia, is the most common multisystem autosomal recessive disease. Most of these patients are homozygous for the GAA repeat expansion located on the first intron of the frataxin gene on chromosome 9. Mutations in the frataxin gene impair mitochondrial function, increase reactive oxygen species, and trigger redistribution of iron in the mitochondria and cytosol. Targeted therapies for Friedreich ataxia are undergoing testing. In addition, a centralized database, patient registry, and natural history study have been launched to support clinical trials in Friedreich ataxia. The 2011 Neurobiology of Disease in Children symposium, held in conjunction with the 40th annual Child Neurology Society meeting, aimed to (1) describe clinical features surrounding Friedreich ataxia, including cardiomyopathy and genetics; (2) discuss recent advances in the understanding of the pathogenesis of Friedreich ataxia and developments of clinical trials; (3) review new investigations of characteristic symptoms; (4) establish clinical and biochemical overlaps in neurodegenerative diseases and possible directions for future basic, translational, and clinical studies. PMID:22859693

  20. Perineural Infiltration of Cutaneous Squamous Cell Carcinoma and Basal Cell Carcinoma Without Clinical Features

    SciTech Connect

    Lin, Charles; Tripcony, Lee; Keller, Jacqui; Poulsen, Michael; Martin, Jarad; Jackson, James; Dickie, Graeme

    2012-01-01

    Purpose: To review the factors that influence outcome and patterns of relapse in patients with cutaneous squamous cell carcinoma (SCC) and basal cell carcinoma (BCC) with perineural infiltration (PNI) without clinical or radiologic features, treated with surgery and radiotherapy. Methods and Materials: Between 1991 and 2004, 222 patients with SCC or BCC with PNI on pathologic examination but without clinical or radiologic PNI features were identified. Charts were reviewed retrospectively and relevant data collected. All patients were treated with curative intent; all had radiotherapy, and most had surgery. The primary endpoint was 5-year relapse-free survival from the time of diagnosis. Results: Patients with SCC did significantly worse than those with BCC (5-year relapse-free survival, 78% vs. 91%; p < 0.01). Squamous cell carcinoma with PNI at recurrence did significantly worse than de novo in terms of 5-year local failure (40% vs. 19%; p < 0.01) and regional relapse (29% vs. 5%; p < 0.01). Depth of invasion was also a significant factor. Of the PNI-specific factors for SCC, focal PNI did significantly better than more-extensive PNI, but involved nerve diameter or presence of PNI at the periphery of the tumor were not significant factors. Conclusions: Radiotherapy in conjunction with surgery offers an acceptable outcome for cutaneous SCC and BCC with PNI. This study suggests that focal PNI is not an adverse feature.

  1. A Chinese pedigree of cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL): clinical and radiological features.

    PubMed

    Zheng, D M; Xu, F F; Gao, Y; Zhang, H; Han, S C; Bi, G R

    2009-06-01

    Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL) is a rare hereditary cerebral vascular disease thought to be confined to Japan. This paper reports a Chinese pedigree of CARASIL in which two patients exhibited all of the typical clinical features of the disease. The radiological features are also discussed and compared with those of CADASIL. These cases illustrate the unique clinical and radiological features of CARASIL and challenge the idea that CARASIL is limited to the Japanese population. PMID:19299137

  2. Neuroimaging and clinical features in type II (late-onset) Alexander disease

    PubMed Central

    Graff-Radford, Jonathan; Schwartz, Kara; Gavrilova, Ralitza H.; Lachance, Daniel H.

    2014-01-01

    Objective: To describe the imaging and clinical features in type II (late-onset) Alexander disease (AxD). Methods: We retrospectively identified all cases of type II AxD evaluated at Mayo Clinic, Rochester from January 1996 to February 2012. Clinical and neuroimaging data abstracted from the record included age at onset of symptoms, age at diagnosis, first symptom, neurologic symptoms, physical/neurologic findings on examination, genetic testing and/or biopsy (if performed), and MRI findings. Results: Thirteen patients with type II AxD were identified. Median age at onset was 38 years (range: 12–63). Five patients were female. Eleven of 13 patients had atrophy of the medulla while all 13 had medullary T2 hyperintensity. In 7 patients, these brainstem regions showed patchy enhancement. Five subjects had T2 signal change in the middle cerebellar peduncle, with associated contrast enhancement in 4 subjects. Eleven of 12 patients with T2 fluid-attenuated inversion recovery (FLAIR) imaging had pial FLAIR signal change in the medulla. Nine of 12 patients with spinal cord imaging had cord atrophy, and 3 of 9 of these evaluated with contrast had cervical cord enhancement. Conclusions: Our study confirms prior reports of atrophy and signal change of the medulla and spinal cord in late-onset AxD. We expand on previous imaging studies by identifying middle cerebellar peduncle and pial FLAIR signal changes as important diagnostic clues. Variable patchy enhancement may occur in regions of T2 hyperintensity, leading to diagnostic uncertainty. In addition, we demonstrate that previously emphasized clinical features such as palatal tremor may not be common. We affirm that age at onset predicts clinical phenotype and imaging findings. PMID:24306001

  3. The clinical and genetic features of the COPD asthma overlap syndrome

    PubMed Central

    Hardin, Megan; Cho, Michael; McDonald, Merry-Lynn; Beaty, Terri; Ramsdell, Joe; Bhatt, Surya; van Beek, Edwin J. R.; Make, Barry J.; Crapo, James D.; Silverman, Edwin K.; Hersh, Craig P.

    2014-01-01

    Background Individuals with COPD and asthma are an important but poorly characterized group. The genetic determinants of COPD-asthma overlap have not been studied. Objective Identify clinical features and genetic risk factors for COPD-asthma overlap. Methods Subjects were current or former smoking non-Hispanic whites (NHW) or African-Americans (AA) with COPD. Overlap subjects reported a history of physician-diagnosed asthma before the age of 40. We compared clinical and radiographic features between COPD and overlap subjects. We performed genome-wide association studies (GWAS) in the NHW and AA populations, and combined these results in a meta-analysis. Results More women and African Americans reported a history of asthma. Overlap subjects had more severe and more frequent respiratory exacerbations, less emphysema, and greater airway wall thickness compared to subjects with COPD alone. The NHW GWAS identified SNPs in CSMD1 (rs11779254, P=1.57×10−6) and SOX5(rs59569785, P=1.61×10−6) and the meta-analysis identified SNPs in the gene GPR65 (rs6574978, P=1.18×10−7) associated with COPD-asthma overlap. Conclusions Overlap subjects have more exacerbations, less emphysema and more airway disease for any degree of lung function impairment compared to COPD alone. We identified novel genetic variants associated with this syndrome. COPD-asthma overlap is an important syndrome and may require distinct clinical management. PMID:24876173

  4. A new rheometer with special features designed for bronchial mucus analysis in clinical practice.

    PubMed

    Braga, P C; Allegra, L; Dall'Oglio, G; Angelini, M; Mocchi, A

    1992-01-01

    Changes in production and in physico-chemical properties of bronchial mucus is a common denominator of many pulmonary diseases. A rheometer with innovative features aimed at bronchial mucus routine investigation in clinical practice at the bedside of the patient has been designed. Searle-type configuration with a coaxial cylinder sensor system and the Mooney-Ewart geometry has been adopted. Another new feature is that bob and cup are disposable. Dynamic viscoelasticity is calculated through a microprocessor with specific software and by means of a magnetic torque--motor electronically driven by the microprocessor. The self-zeroing procedure and the autorange greatly simplify the measuring-cycle which is driven by only one switch. Data (eta and G') are automatically printed on paper. The whole measuring-cycle at the bedside of the patient takes 3-5 min, so that in 1h about 12 samples can be investigated. PMID:1298446

  5. Nodding syndrome in Ugandan children—clinical features, brain imaging and complications: a case series

    PubMed Central

    Idro, Richard; Opoka, Robert Opika; Aanyu, Hellen T; Kakooza-Mwesige, Angelina; Piloya-Were, Theresa; Namusoke, Hanifa; Musoke, Sarah Bonita; Nalugya, Joyce; Bangirana, Paul; Mwaka, Amos Deogratius; White, Steven; Chong, Kling; Atai-Omoruto, Anne D; Mworozi, Edison; Nankunda, Jolly; Kiguli, Sarah; Aceng, Jane Ruth; Tumwine, James K

    2013-01-01

    Objectives Nodding syndrome is a devastating neurological disorder of uncertain aetiology affecting children in Africa. There is no diagnostic test, and risk factors and symptoms that would allow early diagnosis are poorly documented. This study aimed to describe the clinical, electrophysiological and brain imaging (MRI) features and complications of nodding syndrome in Ugandan children. Design Case series. Participants 22 children with nodding syndrome brought to Mulago National Referral Hospital for assessment. Outcome measures Clinical features, physical and functional disabilities, EEG and brain MRI findings and a staging system with a progressive development of symptoms and complications. Results The median age of symptom onset was 6 (range 4–10) years and median duration of symptoms was 8.5 (range 2–11) years. 16 of 22 families reported multiple affected children. Physical manifestations and complications included stunting, wasting, lip changes and gross physical deformities. The bone age was delayed by 2 (range 1–6) years. There was peripheral muscle wasting and progressive generalised wasting. Four children had nodding as the only seizure type; 18 in addition had myoclonic, absence and/or generalised tonic–clonic seizures developing 1–3?years after the onset of illness. Psychiatric manifestations included wandering, aggression, depression and disordered perception. Cognitive assessment in three children demonstrated profound impairment. The EEG was abnormal in all, suggesting symptomatic generalised epilepsy in the majority. There were different degrees of cortical and cerebellar atrophy on brain MRI, but no hippocampal changes. Five stages with worsening physical, EEG and brain imaging features were identified: a prodrome, the development of head nodding and cognitive decline, other seizure types, multiple complications and severe disability. Conclusions Nodding syndrome is a neurological disorder that may be characterised as probably symptomatic generalised epilepsy. Clinical manifestations and complications develop in stages which might be useful in defining treatment and rehabilitation. Studies of risk factors, pathogenesis, management and outcome are urgently needed. PMID:23645924

  6. Parieto-occipital encephalomalacia in children; clinical and electrophysiological features of twenty-seven cases

    PubMed Central

    Karao?lu, Pakize; Polat, Ay?e ?pek; Yi?, Uluç; H?z, Semra

    2015-01-01

    Context: Brain injuries occurring at a particular time may cause damages in well-defined regions of brain. Perinatal hypoxic ischemic encephalopathy and hypoglycemia are some of the most common types of brain injuries. Neonatal hypoglycemia can cause abnormal myelination in parietal and occipital lobes resulting in parieto-occipital encephalomalacia. There is a small number of studies about clinical and electroencephalographic (EEG) features of children with parieto-occipital encephalomalacia. They might have important neurologic sequelae such as cortical visual loss, seizures, and psychomotor retardation. Aims: We aimed to evaluate the causes of parieto-occipital encephalomalacia and evaluate the clinical and electrophysiological features of children with parieto-occipital encephalomalacia. Settings and Design: We evaluated clinical features and EEGs of 27 children with parieto-occipital encephalomalacia. Statistical Analysis Used: Descriptive statistics were used. Results: Hospitalization during the neonatal period was the most common cause (88.9%) of parieto-occipital brain injury. Eleven patients (40.7%) had a history of neonatal hypoglycemia. Twenty-three patients (85.2%) had epilepsy and nine of the epileptic patients (39%) had refractory seizures. Most of the patients had bilateral (50%) epileptic discharges originating from temporal, parietal, and occipital lobes (56.2%). However, some patients had frontal sharp waves and some had continuous spike and wave discharges during sleep. Visual abnormalities were evident in 15 (55.6%) patients. Twenty-two (81.5%) had psychomotor retardation. Fine motor skills, social contact and language development were impaired more than gross motor skills. Conclusions: In our study, most of the patients with parieto-occipital encephalomalacia had an eventful perinatal history. Epilepsy, psychomotor retardation, and visual problems were common neurologic complications. PMID:26167209

  7. Clinical features of vestibular schwannomas in patients who experience hearing improvement after surgery.

    PubMed

    Kohno, Michihiro; Sora, Shigeo; Sato, Hiroaki; Shinogami, Masanobu; Yoneyama, Hidehiko

    2015-04-01

    Postoperative improvements in hearing in patients with vestibular schwannoma are extremely rare. We reviewed nine cases retrospectively to investigate the clinical features of these cases. Hearing improvement was defined as an improvement in hearing class according to American Academy of Otolaryngology-Head and Neck Surgery (AAO-HNS) criteria. The nine patients comprised five men and four women with a mean age of 40.4 years. Of the nine tumors, three were solid and six cystic; mean tumor size was 29.7 mm. Mean pure tone average (PTA) and mean speech discrimination scores (SDS) were 47.5 dB and 22.8%, respectively, preoperatively and 29.6 dB and 83.9%, respectively, postoperatively. AAO-HNS class distribution was class B:1 and D:8, preoperatively, and class A: 5 and B:4, postoperatively. A lateral suboccipital retrosigmoid approach with a lateral (park bench) position was used in all nine patients. Clinical features of these vestibular schwannomas included (1) large cystic tumors, (2) sudden onset hearing loss, (3) the presence of a valley shape in the middle-pitch area on preoperative audiograms, (4) almost intact preoperative inner ear function, (5) a low SDS relative to PTA preoperatively, (6) surgical treatment via a lateral suboccipital approach within 6 months of the most recent exacerbation of hearing loss, (7) observation of I waves in preoperative, intraoperative, and postoperative auditory brainstem response (ABR) recordings, and (8) postoperative improvement in mainly the middle-pitch range and SDS. For surgical treatment of vestibular schwannomas with the above clinical features, a translabyrinthine approach and cochlear nerve section (unless the I wave on the intraoperative ABR trace disappears) should be avoided, regardless of the patient's preoperative hearing level, if a surgeon hopes to maximize the chances of preserving or improving hearing. PMID:25528569

  8. Microbiological and clinical features of four cases of catheter-related infection by Methylobacterium radiotolerans.

    PubMed

    Li, Li; Tarrand, Jeffrey J; Han, Xiang Y

    2015-04-01

    Four cases of central venous catheter-related Methylobacterium radiotolerans infection are presented here. The patients were all long-term catheter carriers with an underlying diagnosis of leukemia, and they mostly manifested fevers. The isolated bacterial strains all showed far better growth on buffered charcoal yeast extract agar during the initial isolation and/or subcultures than they did on sheep blood or chocolate agar. This microbiological feature may improve the culture recovery of this fastidious pink Gram-negative bacillus that has rarely been isolated in clinical microbiology laboratories. PMID:25631797

  9. Alveolar Soft Part Sarcoma Arising from the Kidney: Imaging and Clinical Features

    PubMed Central

    Kim, Jung Myung; Oh, Soon Nam; Chung, Nak Gyun

    2014-01-01

    Alveolar soft part sarcoma (ASPS) is an extremely rare malignant soft tissue sarcoma primarily affecting young patients. It usually occurs in the lower extremities, although it can occur in soft tissue anywhere in the body. However, to our knowledge, there has been no case of primary ASPS originating from the kidney in the literature. We herein present the imaging and clinical features of an ASPS which occurred in a 16-year-old male presented as a palpable mass in the left side of the abdomen. PMID:24843244

  10. Multiple system atrophy presenting as parkinsonism: clinical features and diagnostic criteria.

    PubMed Central

    Albanese, A; Colosimo, C; Bentivoglio, A R; Fenici, R; Melillo, G; Colosimo, C; Tonali, P

    1995-01-01

    To evaluate the possibility that parkinsonian signs may be the only presenting feature of multiple system atrophy (MSA), parkinsonian patients were studied who had no atypical clinical signs and had no symptoms of autonomic dysfunction, but who reported that they had not experienced the anticipated good response to dopaminergic treatment. These stringent criteria identified 20 patients from a series of 298 consecutive parkinsonian outpatients. The following clinical pointers were analysed: (a) rate of disease progression; (b) symmetry of parkinsonian symptoms and signs; (c) occurrence of resting tremor during the first three years from onset. In addition, all patients underwent (d) acute and chronic challenge with dopaminergic drugs; (e) cardiovascular reflex autonomic function tests; (f) high field MRI. Rapid progression of disease was seen in 45% of patients, onset was symmetric in 25%, tremor was absent at onset in 70%, response to dopaminergic drug challenges was inadequate in 40%, abnormal cardiovascular reflexes occurred in 50%, and some abnormal MRI finding occurred in 35% of cases. Each of these features was equally weighted by giving to each patient a 0 to 6 point score corresponding to the number of abnormal findings. Fifteen patients scoring higher than 1 were considered at risk for having MSA: five of them were classified as clinically possible (score 2), six as clinically probable (score 3-4), and four patients were classified as clinically definite multiple system atrophy (score 5). The six pointers considered were variably combined in each patient, none of them being universally abnormal in patients with high scores. The patients were followed up for a mean 2.1 (SEM 0.65) years. All but one of the 10 patients prospectively classified as probable or definite MSA developed unequivocal clinical signs of fully symptomatic MSA. A receiver operator characteristic cure was plotted for the prospective score based on follow up diagnosis. The best compromise for trade off between sensitivity and specificity was a cut off value at a score of 3. The sensitivity and specificity of the individual pointers considered to predict fully symptomatic MSA varied considerably, and no single item could predict whether patients presenting with just parkinsonian signs went on during the two year follow up period to develop fully symptomatic MSA. Instead, the number of abnormalities offered a predictive value for the clinical prognosis of these parkinsonian patients. PMID:7629528

  11. Delineation of clinical features in Wiedemann-Steiner syndrome caused by KMT2A mutations.

    PubMed

    Miyake, N; Tsurusaki, Y; Koshimizu, E; Okamoto, N; Kosho, T; Brown, N J; Tan, T Y; Yap, P J J; Suzumura, H; Tanaka, T; Nagai, T; Nakashima, M; Saitsu, H; Niikawa, N; Matsumoto, N

    2016-01-01

    Wiedemann-Steiner syndrome (WSS) is an autosomal dominant congenital anomaly syndrome characterized by hairy elbows, dysmorphic facial appearances (hypertelorism, thick eyebrows, downslanted and vertically narrow palpebral fissures), pre- and post-natal growth deficiency, and psychomotor delay. WSS is caused by heterozygous mutations in KMT2A (also known as MLL), a gene encoding a histone methyltransferase. Here, we identify six novel KMT2A mutations in six WSS patients, with four mutations occurring de novo. Interestingly, some of the patients were initially diagnosed with atypical Kabuki syndrome, which is caused by mutations in KMT2D or KDM6A, genes also involved in histone methylation. KMT2A mutations and clinical features are summarized in our six patients together with eight previously reported patients. Furthermore, clinical comparison of the two syndromes is discussed in detail. PMID:25810209

  12. Clinical Features of Infections and Colonization by Acinetobacter Genospecies 3 ▿

    PubMed Central

    Molina, José; Cisneros, José Miguel; Fernández-Cuenca, Felipe; Rodríguez-Baño, Jesús; Ribera, Anna; Beceiro, Alejandro; Martínez-Martínez, Luis; Pascual, Álvaro; Bou, Germán; Vila, Jordi; Pachón, Jerónimo

    2010-01-01

    Two hundred twenty-one isolates of Acinetobacter baumannii and 15 of Acinetobacter genospecies 3 (AG3) were consecutively collected in a 30-day period during the nationwide project GEIH-Ab2000. Nosocomial acquisition (P = 0.01), intensive care unit admission (P = 0.02), and antibiotic pressure (P = 0.03) were observed to be lower in the AG3 group. AG3 isolates were more frequently implied in wound infections (P = 0.05), while A. baumannii tended to be recovered from respiratory samples (P = 0.08). To our knowledge, this is the first report analyzing the clinical differences among Acinetobacter genospecies, with our findings suggesting that clinical features of AG3 may not be equivalent to those traditionally described for A. baumannii. PMID:20943868

  13. Clinical Features of Bacterial Vaginosis in a Murine Model of Vaginal Infection with Gardnerella vaginalis

    PubMed Central

    Gilbert, Nicole M.; Lewis, Warren G.; Lewis, Amanda L.

    2013-01-01

    Bacterial vaginosis (BV) is a dysbiosis of the vaginal flora characterized by a shift from a Lactobacillus-dominant environment to a polymicrobial mixture including Actinobacteria and Gram-negative bacilli. BV is a common vaginal condition in women and is associated with increased risk of sexually transmitted infection and adverse pregnancy outcomes such as preterm birth. Gardnerella vaginalis is one of the most frequently isolated bacterial species in BV. However, there has been much debate in the literature concerning the contribution of G. vaginalis to the etiology of BV, since it is also present in a significant proportion of healthy women. Here we present a new murine vaginal infection model with a clinical isolate of G. vaginalis. Our data demonstrate that this model displays key features used clinically to diagnose BV, including the presence of sialidase activity and exfoliated epithelial cells with adherent bacteria (reminiscent of clue cells). G. vaginalis was capable of ascending uterine infection, which correlated with the degree of vaginal infection and level of vaginal sialidase activity. The host response to G. vaginalis infection was characterized by robust vaginal epithelial cell exfoliation in the absence of histological inflammation. Our analyses of clinical specimens from women with BV revealed a measureable epithelial exfoliation response compared to women with normal flora, a phenotype that, to our knowledge, is measured here for the first time. The results of this study demonstrate that G. vaginalis is sufficient to cause BV phenotypes and suggest that this organism may contribute to BV etiology and associated complications. This is the first time vaginal infection by a BV associated bacterium in an animal has been shown to parallel the human disease with regard to clinical diagnostic features. Future studies with this model should facilitate investigation of important questions regarding BV etiology, pathogenesis and associated complications. PMID:23527214

  14. Comparison between type-2 and type-1 myocardial infarction: clinical features, treatment strategies and outcomes

    PubMed Central

    López-Cuenca, Angel; Gómez-Molina, Miriam; Flores-Blanco, Pedro J; Sánchez-Martínez, Marianela; García-Narbon, Andrea; De Las Heras-Gómez, Ignacio; Sánchez-Galian, María J; Guerrero-Pérez, Esther; Valdés, Mariano; Manzano-Fernández, Sergio

    2016-01-01

    Objective To assess the differences in incidence, clinical features, current treatment strategies and outcome in patients with type-2 vs. type-1 acute myocardial infarction (AMI). Methods We included 824 consecutive patients with a diagnosis of type-1 or type-2 AMI. During index hospitalization, clinical features and treatment strategies were collected in detail. At 1-year follow-up, mortality, stroke, non-fatal myocardial infarction and major bleeding were recorded. Results Type-1 AMI was present in 707 (86%) of the cases while 117 (14%) were classified as type-2. Patients with type-2 AMI were more frequently female and had higher co-morbidities such as diabetes, previous non-ST segment elevation acute coronary syndromes, impaired renal function, anaemia, atrial fibrillation and malignancy. However, preserved left ventricular ejection fraction and normal coronary arteries were more frequently seen, an invasive treatment was less common, and anti-platelet medications, statins and beta-blockers were less prescribed in patients with type-2 AMI. At 1-year follow-up, type-2 AMI was associated with a higher crude mortality risk (HR: 1.75, 95% CI: 1.14–2.68; P = 0.001), but this association did not remain significant after multivariable adjustment (P = 0.785). Furthermore, we did not find type-2 AMI to be associated with other clinical outcomes. Conclusions In this real-life population, compared with type-1, type-2 AMI were predominantly women and had more co-morbidities. Invasive treatment strategies and cardioprotective medications were less used in type-2, while the 1-year clinical outcomes were similar. PMID:26918008

  15. Association of Genotyping of Bacillus cereus with Clinical Features of Post-Traumatic Endophthalmitis

    PubMed Central

    Hong, Meng; Wang, Qian; Tang, Zhide; Wang, Youpei; Gu, Yunfeng; Lou, Yongliang; Zheng, Meiqin

    2016-01-01

    Bacillus cereus is the second most frequent cause of post-traumatic bacterial endophthalmitis. Although genotyping of B. cereus associated with gastrointestinal infections has been reported, little is known about the B. cereus clinical isolates associated with post-traumatic endophthalmitis. This is largely due to the limited number of clinical strains available isolated from infected tissues of patients with post-traumatic endophthalmitis. In this study, we report successful isolation of twenty-four B. cereus strains from individual patients with different disease severity of post-traumatic endophthalmitis. Phylogenetic analysis showed that all strains could be categorized into three genotypes (GTI, GTII and GTIII) and the clinical score showed significant differences among these groups. We then further performed genotyping using the vrrA gene, and evaluated possible correlation of genotype with the clinical features of B. cereus–caused post-traumatic endophthalmitis, and with the prognosis of infection by conducting follow-up with patients for up to 2 months. We found that the disease of onset and final vision acuity were significantly different among the three groups. These results suggested that the vrrA gene may play a significant role in the pathogenesis of endophthalmitis, and genotyping of B. cereus has the potential for predicting clinical manifestation and prognosis of endophthalmitis. To the best of our knowledge, this is the first report of isolation of large numbers of clinical isolates of B. cereus from patients with endophthalmitis. This work sets the foundation for future investigation of the pathogenesis endophthalmitis caused by B. cereus infection. PMID:26886446

  16. Clinical and molecular features and therapeutic perspectives of spinal muscular atrophy with respiratory distress type 1

    PubMed Central

    Vanoli, Fiammetta; Rinchetti, Paola; Porro, Francesca; Parente, Valeria; Corti, Stefania

    2015-01-01

    Spinal muscular atrophy with respiratory distress (SMARD1) is an autosomal recessive neuromuscular disease caused by mutations in the IGHMBP2 gene, encoding the immunoglobulin ?-binding protein 2, leading to motor neuron degeneration. It is a rare and fatal disease with an early onset in infancy in the majority of the cases. The main clinical features are muscular atrophy and diaphragmatic palsy, which requires prompt and permanent supportive ventilation. The human disease is recapitulated in the neuromuscular degeneration (nmd) mouse. No effective treatment is available yet, but novel therapeutical approaches tested on the nmd mouse, such as the use of neurotrophic factors and stem cell therapy, have shown positive effects. Gene therapy demonstrated effectiveness in SMA, being now at the stage of clinical trial in patients and therefore representing a possible treatment for SMARD1 as well. The significant advancement in understanding of both SMARD1 clinical spectrum and molecular mechanisms makes ground for a rapid translation of pre-clinical therapeutic strategies in humans. PMID:26095024

  17. 30-Day Mortality in Acute Pulmonary Embolism: Prognostic Value of Clinical Scores and Anamnestic Features

    PubMed Central

    Bach, Andreas Gunter; Taute, Bettina-Maria; Baasai, Nansalmaa; Wienke, Andreas; Meyer, Hans Jonas; Schramm, Dominik; Surov, Alexey

    2016-01-01

    Purpose Identification of high-risk patients with pulmonary embolism is vital. The aim of the present study was to examine clinical scores, their single items, and anamnestic features in their ability to predict 30-day mortality. Materials and Methods A retrospective, single-center study from 06/2005 to 01/2010 was performed. Inclusion criteria were presence of pulmonary embolism, availability of patient records and 30-day follow-up. The following clinical scores were calculated: Acute Physiology and Chronic Health Evaluation II, original and simplified pulmonary embolism severity index, Glasgow Coma Scale, and euroSCORE II. Results In the study group of 365 patients 39 patients (10.7%) died within 30 days due to pulmonary embolism. From all examined scores and parameters the best predictor of 30-day mortality were the Glasgow Coma scale (≤ 10) and parameters of the circulatory system including presence of mechanical ventilation, arterial pH (< 7.335), and systolic blood pressure (< 99 mm Hg). Conclusions Easy to ascertain circulatory parameters have the same or higher prognostic value than the clinical scores that were applied in this study. From all clinical scores studied the Glasgow Coma Scale was the most time- and cost-efficient one. PMID:26866472

  18. Clinical and neuropathological features of the Arctic APP mutation causing early onset Alzheimer's disease

    PubMed Central

    Basun, Hans; Bogdanovic, Nenad; Ingelsson, Martin; Almkvist, Ove; Näslund, Jan; Axelman, Karin; Bird, Thomas D.; Nochlin, David; Schellenberg, Gerard D.; Wahlund, Lars-Olof; Lannfelt, Lars

    2009-01-01

    Background A majority of mutations within the amyloid ? (A?) region of the amyloid precursor protein (APP) gene cause inherited forms of intracerebral haemorrhage. Most of these mutations may also cause cognitive impairment, but the Arctic APP mutation is the only known intra-A? mutation to date causing the more typical clinical picture of Alzheimer's disease (AD). Objective To describe features of one Swedish and one American family with the previously reported Arctic APP mutation. Subjects Affected and non-affected carriers of the Arctic APP mutation from the Swedish and American families were investigated clinically. In addition, one brain from each family was investigated neuropathologically. Results The clinical picture, with age at disease onset in the sixth to seventh decade of life and dysfunction in multiple cognitive areas, is indicative of AD and similar to the phenotype for other AD APP mutations. Several affected mutation carriers displayed general brain atrophy and reduced blood flow of the parietal lobe, as demonstrated by magnetic resonance imaging and single photon emission computed tomography. One Swedish and one American case with the Arctic APP mutation have come to autopsy, neither of which showed any signs of haemorrhage but revealed severe congophilic angiopathy, region-specific neurofibrillary tangle pathology as well as abundant amyloid plaques. Intriguingly, a majority of plaques from both of these cases had a characteristic ring-like character. Conclusions Overall, our findings corroborate that the Arctic APP mutation causes a clinical and neuropathological picture compatible with AD. PMID:18413473

  19. Immune challenges trigger cellular and humoral responses in adults of Pterostichus melas italicus (Coleoptera, Carabidae).

    PubMed

    Giglio, Anita; Brandmayr, Pietro; Pasqua, Teresa; Angelone, Tommaso; Battistella, Silvia; Giulianini, Piero G

    2015-05-01

    The present study focuses on the ability of Pterostichus melas italicus Dejean to mount cellular and humoral immune responses against invading pathogens. Ultrastructural analyses revealed the presence of five morphologically distinct types of hemocytes: prohemocytes, plasmatocytes, granulocytes, oenocytoids and macrophage-like cells. Differential hemocyte counts showed that plasmatocytes and granulocytes were the most abundant circulating cell types and plasmatocytes exhibited phagocytic activity following the latex bead immune challenge. Macrophage-like cells were recruited after the immune challenge to remove exhausted phagocytizing cells, apoptotic cells and melanotic capsules formed to immobilize the latex beads. Total hemocyte counts showed a significant reduction of hemocytes after latex bead treatment. Phenoloxidase (PO) assays revealed an increase of total PO in hemolymph after immune system activation with lipopolysaccharide (LPS). Moreover, the LPS-stimulated hemocytes showed increased protein expression of inducible nitric oxide synthase, indicating that the cytotoxic action of nitric oxide was engaged in this antimicrobial collaborative response. These results provide a knowledge base for further studies on the sensitivity of the P. melas italicus immune system to the environmental perturbation in order to evaluate the effect of chemicals on non-target species in agroecosystems. PMID:25656553

  20. Mass-gathering Events: The Public Health Challenge of the Kumbh Mela 2013.

    PubMed

    Dwivedi, Suresh; Cariappa, Mudera P

    2015-12-01

    Mass-gathering (MG) events pose challenges to the most adept of public health practitioners in ensuring the health safety of the population. These MGs can be for sporting events, musical festivals, or more commonly, have religious undertones. The Kumbh Mela 2013 at Allahabad, India may have been the largest gathering of humanity in history with nearly 120 million pilgrims having thronged the venue. The scale of the event posed a challenge to the maintenance of public health security and safety. A snapshot of the experience of managing the hygiene and sanitation aspects of this mega event is presented herein, highlighting the importance of proactive public health planning and preparedness. There having been no outbreaks of disease is vindication of the steps undertaken in planning and preparedness, notwithstanding obvious limitations of insanitary behaviors and traditional beliefs of those attending the festival. The evident flaw on post-event analyses was the failure to cater adequately for environmental mopping-up operations after the festival. Besides, a system of real-time monitoring of disease and morbidity patterns, harnessing low cost technology alternatives, should be planned for at all such future events. Dwivedi S , Cariappa MP . Mass-gathering events: the public health challenge of the Kumbh Mela 2013. Prehosp Disaster Med. 2015;30(6):621-624. PMID:26490181

  1. [SOME CLINICAL AND CYTOKINE FEATURES OF THE CLINICAL COURSE OF RECURRENT RESPIRATORY SYSTEM DISEASES IN CHILDREN WITH THE TOXOCARIASIS INVASION].

    PubMed

    Dralova, A; Usachova, E

    2015-12-01

    The aim of the present study was to analyze clinical and cytokine features of recurrent respiratory system diseases in children with toxocariasis. 50 children aged 1 to 17 years (mean age - 10±5 years) with recurrent current of respiratory system disorders were studied. During the survey such clinical manifestations of the respiratory system disorders as obstructive bronchitis (50%), bronchial asthma (30%), pneumonia (10%) and laryngotracheitis (10%) have been revealed. Statistical analysis of the results was performed using the software package STATISTICA 6.1 (SNANSOFT). We have shown that the disorders of respiratory system in case of toxocariasis invasion often occur with severe intoxication and bronchial obstruction syndromes, temperature reaction, respiratory insufficiency and hepatomegaly. A prolonged course of the disease has been noted. "Inflammatory" indicators of general blood analysis, such as leukocytosis and increased of ESR have been recorded in patients with respiratory system disorders in children with T.canis infection significantly more often, significant "allergic" laboratory changes were in the form of eosinophilia. High average levels of pro-inflammatory IL-6, as well as low levels of IL 5 have been determined in children suffering from the respiratory system disorders and with toxocariasis invasion in the anamnesis. The obtained findings require further study. PMID:26719552

  2. Relationship between Clinical and Immunological Features of Thyroid Autoimmunity and Ophthalmopathy during Pregnancy

    PubMed Central

    Wall, Jack R.; Lahooti, Hooshang; Champion, Bernard

    2015-01-01

    Problem. Clinical features of Graves' hyperthyroidism (GH) generally improve during pregnancy and rebound in the postpartum period. It is unclear whether the ophthalmopathy that is associated with GH and, less often, Hashimoto's thyroiditis (HT) changes in parallel with the thyroid associated antibody reactions and clinical features or runs a different course. Method of Study. We retrospectively studied 19 patients with autoimmune thyroid disease over 22 pregnancies: 9 pregnancies with GH and 13 with HT. Ophthalmopathy was defined by NOSPECS class. Results. Thyroid peroxidase (TPO) and thyroglobulin (Tg) antibody titres decreased during pregnancy and rose in the postpartum period. During pregnancy, 5 patients with GH and 4 patients with HT developed mild ophthalmopathy and two patients with GH and HT developed new upper eyelid retraction (UER). In the postpartum period, eye scores improved in 3 patients with GH and 3 with HT, remained stable in two and 5 patients, respectively, and worsened in 2 patients with GH and one with HT. Conclusions. In patients with mild to moderate eye signs associated with GH and HT, the orbital and thyroid reactions ran different courses during pregnancy. Since no patient had severe ophthalmopathy, we cannot draw definitive conclusions from this preliminary study. PMID:26798548

  3. Clinical Features of Imported Loiasis: A Case Series from the Hospital for Tropical Diseases, London.

    PubMed

    Saito, Makoto; Armstrong, Margaret; Boadi, Samuel; Lowe, Patricia; Chiodini, Peter L; Doherty, Tom

    2015-09-01

    We retrospectively analyzed the background, clinical features, and treatment response of 50 cases of imported loiasis who presented between 2000 and 2014 to the Hospital for Tropical Diseases (HTD), London, United Kingdom. Of them, 29 were migrants from, and 21 were visitors to, countries where the disease is endemic. Clinical features differed between these groups. Migrants experienced fewer Calabar swellings (odds ratio [OR] = 0.12), more eye worm (OR = 3.4), more microfilaremia (OR = 3.5), lower filarial antibody levels, and lower eosinophil counts (P < 0.05 for all tests). Among 46 patients who were started on treatment at HTD, 33 (72%) received diethylcarbamazine (DEC) monotherapy as first-line treatment, and among 26 patients who were followed up after treatment, seven (27%) needed a second course of treatment. There were 46 courses of treatment with DEC, and 20 (43%) of them had reactions. All patients with microfilaremia > 3,000 microfilariae/mL and all those with an elevated C-reactive protein (CRP) (≥ 5 mg/L) before treatment had reactions (P = 0.10 and P = 0.01, respectively). These data suggest that monotherapy with DEC may not be the optimal treatment for patients with loiasis, particularly for those with a high microfilarial load. PMID:26101271

  4. GDAP1 mutations in Italian axonal Charcot-Marie-Tooth patients: Phenotypic features and clinical course.

    PubMed

    Pezzini, I; Geroldi, A; Capponi, S; Gulli, R; Schenone, A; Grandis, M; Doria-Lamba, L; La Piana, C; Cremonte, M; Pisciotta, C; Nolano, M; Manganelli, F; Santoro, L; Mandich, P; Bellone, E

    2016-01-01

    Mutations in the ganglioside-induced differentiation associated-protein 1 (GDAP1) gene have been associated with both autosomal recessive (AR) and dominant (AD) Charcot-Marie-Tooth (CMT) axonal neuropathy. The relative frequency of heterozygous, dominant mutations in Italian CMT is unknown. We investigated the frequency of dominant mutations in GDAP1 in a cohort of 109 axonal Italian patients by sequencing genomic DNA and search for copy number variations. We also explored correlations with clinical features. All cases had already been tested for variants in common axonal AD genes. Eight patients (7.3%) harbored five already reported heterozygous mutations in GDAP1 (p.Arg120Gly, p.Arg120Trp, p.His123Arg, p.Gln218Glu, p.Arg226Ser). Mutations had different penetrances in the families; the onset of symptoms is in the first decade and progression is slower than usually seen in GDAP1-related AR-CMT. We show that the relative frequency of mutations in GDAP was slightly higher than those observed in MFN2 and MPZ (7.3% vs 6.3% and 5.0%). The relatively milder clinical features and the quite indolent course observed are relevant for prognostic assessment. On the basis of our experience and the data reported here, we suggest GDAP1 as the first gene that should be analysed in Italian patients affected by CMT2. PMID:26525999

  5. Clinical features of patients with Philadelphia-negative myeloproliferative neoplasms complicated by portal hypertension

    PubMed Central

    Yan, Matthew; Geyer, Holly; Mesa, Ruben; Atallah, Ehab; Callum, Jeannie; Bartoszko, Justyna; Yee, Karen; Maganti, Manjula; Wong, Florence; Gupta, Vikas

    2015-01-01

    Backgroud Portal hypertension (PHTN) has been reported to afflict 7-18% of patients with Philadelphia-negative myeloproliferative neoplasms (MPNs), with complications of variceal bleeding and ascites. The clinical features and outcomes of these patients are unclear. Patients and Methods In this multi-centre retrospective study, we evaluated the clinical features of 51 patients with MPNs complicated by PHTN. Results The diagnosis of underlying MPN was most frequently polycythemia vera (PV) (39%) and primary myelofibrosis (MF) (35%), followed by post-PV myelofibrosis (18%), essential thrombocythemia (ET) (4%) and post-ET myelofibrosis (4%). Frequency of JAK2 V617F mutation appears as expected in the underlying MPN. Thrombosis within the splanchnic circulation was prevalent in patients with polycythemia compared to other MPNs (76% vs. 26%, p=0.0007). Conclusions PV and MF patients have a higher incidence of PHTN in our population, with thrombosis contributing to PHTN development in PV patients. Patients with splanchnic circulation thrombosis are potential candidates for screening for portal hypertension. These data may be useful for developing screening strategies for early detection of PHTN in patients with MPN. PMID:25027569

  6. THE RARE DISEASES CLINICAL RESEARCH NETWORK CONTACT REGISTRY UPDATE: FEATURES AND FUNCTIONALITY

    PubMed Central

    Richesson, Rachel; Sutphen, Rebecca; Shereff, Denise; Krischer, Jeff

    2013-01-01

    The Rare Diseases Clinical Research Network (RDCRN) Contact Registry has grown in size and scope since it was first reported in this journal in 2007. In this paper, we reflect on our seven years’ experience developing and expanding the RDCRN Contact Registry to include many more rare diseases. We present the functional and data requirements that motivated this registry, and the new features and policies that have been developed since. Given the high costs and long-term commitment required to build patient registries, the RDCRN Contact Registry experience represents a reasonable approach for identifying and cultivating potential research populations, with minimal resources and patient burden. The basic model of a patient-reported registry has not changed since our 2007 report, but the number of diseases has grown from 42 to 201, and the types of information that are exchanged with participants has expanded. A patient-directed information-sharing feature has been added to reduce barriers to communication between investigators and patients affected by rare and genetic diseases. As specific data and research needs arise, the Contact Registry can be leveraged to access needed data or to solicit patients for particular research opportunities. This multiple-disease registry is scalable, expandable, and standards-driven, and has become a model for clinical and translational research across rare and many other diseases. PMID:22405970

  7. Clinical features of systemic cancer patients with acute cerebral infarction and its underlying pathogenesis

    PubMed Central

    Chen, Yajuan; Zeng, Jinsheng; Xie, Xingrui; Wang, Zijun; Wang, Xiaoting; Liang, Zhijian

    2015-01-01

    Background: The increased incidence of cerebral infarction in patients with systemic cancer has been reported; however, the underline mechanisms remain unclear. Investigation regarding the clinical features of cerebral infarction in cancer patients could be helpful to understand its underlying pathogenesis. Methods: A total of 537 patients were recruited and divided into three groups: 1) stroke and cancer group (SCG), defined as active cancer patients with acute cerebral infarction; 2) stroke group (SG), defined as acute cerebral infarction patients without cancer; and 3) Cancer group (CG), defined as active cancer patients without cerebral infarction. These patients were age and gender-matched among groups. Results: 179 patients, including 128 male subjects (73.68%) were enrolled in each group. Compared to SG patients, more SCG patients lacked conventional vascular risk factors (CRFs), and had elevated plasma D-dimer, cancer antigen (CA) 125 and 199 levels with multiple lesions in multiple cerebral arterial territories. In addition, SCG patients were found to have poorer prognosis. Compared to CG patients, more SCG patients’ cancer had metastasized. Multiple logistic regression analysis showed that the elevated plasma D-dimer, CA125 and CA199 levels may independently increase, but chemoradiotherapy decreased the risk of cerebral infarction in cancer patients. Conclusions: Our study demonstrated that the clinical features of acute cerebral infarction in most active cancer patients can be identified as multiple lesions in multiple cerebral arterial territories with elevated plasma D-dimer and the elevated levels of cancer antigens. PMID:26064369

  8. Clinical features and a mutation with late onset of limb girdle muscular dystrophy 2B

    PubMed Central

    Takahashi, Toshiaki; Aoki, Masashi; Suzuki, Naoki; Tateyama, Maki; Yaginuma, Chikako; Sato, Hitomi; Hayasaka, Miho; Sugawara, Hitomi; Ito, Mariko; Abe-Kondo, Emi; Shimakura, Naoko; Ibi, Tohru; Kuru, Satoshi; Wakayama, Tadashi; Sobue, Gen; Fujii, Naoki; Saito, Toshio; Matsumura, Tsuyoshi; Funakawa, Itaru; Mukai, Eiichiro; Kawanami, Toru; Morita, Mitsuya; Yamazaki, Mineo; Hasegawa, Takashi; Shimizu, Jun; Tsuji, Shoji; Kuzuhara, Shigeki; Tanaka, Hiroyasu; Yoshioka, Masaru; Konno, Hidehiko; Onodera, Hiroshi; Itoyama, Yasuto

    2013-01-01

    Objective and methods Dysferlin encoded by DYSF deficiency leads to two main phenotypes, limb girdle muscular dystrophy (LGMD) 2B and Miyoshi myopathy. To reveal in detail the mutational and clinical features of LGMD2B in Japan, we observed 40 Japanese patients in 36 families with LGMD2B in whom dysferlin mutations were confirmed. Results and conclusions Three mutations (c.1566C>G, c.2997G>T and c.4497delT) were relatively more prevalent. The c.2997G>T mutation was associated with late onset, proximal dominant forms of dysferlinopathy, a high probability that muscle weakness started in an upper limb and lower serum creatine kinase (CK) levels. The clinical features of LGMD2B are as follows: (1) onset in the late teens or early adulthood, except patients homozygous for the c.2997G>T mutation; (2) lower limb weakness at onset; (3) distal change of lower limbs on muscle CT at an early stage; (4) impairment of lumbar erector spinal muscles on muscle CT at an early stage; (5) predominant involvement of proximal upper limbs; (6) preservation of function of the hands at late stage; (7) preservation of strength in neck muscles at late stage; (8) lack of facial weakness or dysphagia; (9) avoidance of scoliosis; (10) hyper-Ckaemia; (11) preservation of cardiac function; and (12) a tendency for respiratory function to decline with disease duration. It is important that the late onset phenotype is found with prevalent mutations. PMID:23243261

  9. Clinical Features and Outcome of Patients With IRAK-4 and MyD88 Deficiency

    PubMed Central

    Picard, Capucine; von Bernuth, Horst; Ghandil, Pegah; Chrabieh, Maya; Levy, Ofer; Arkwright, Peter D.; McDonald, Douglas; Geha, Raif S.; Takada, Hidetoshi; Krause, Jens C.; Creech, C. Buddy; Ku, Cheng-Lung; Ehl, Stephan; Ma?odi, ?asz?o; Al-Muhsen, Saleh; Al-Hajjar, Sami; Al-Ghonaium, Abdulaziz; Day-Good, Noorbibi K.; Holland, Steven M.; Gallin, John; Chapel, Helen; Speert, David P.; Rodriguez-Gallego, Carlos; Colino, Elena; Garty, Ben-Zion; Roifman, Chaim; Hara, Toshiro; Yoshikawa, Hideto; Nonoyama, Shigeaki; Domachowske, Joseph; Issekutz, Andrew C.; Tang, Mimi; Smart, Joanne; Zitnik, Simona Eva; Hoarau, Cyrille; Kumararatne, Dinakantha; Thrasher, Adrian; Davies, E. Graham; Bethune, Claire; Sirvent, Nicolas; de Ricaud, Dominique; Camcioglu, Yildiz; Vasconcelos, J?ulia; Guedes, Margarida; Vitor, Artur Bonito; Rodrigo, Carlos; AlmaŸan, Francisco; ?endez, Maria; A?ostegui, Juan Ignacio; Alsina, Laia; Fortuny, Claudia; Reichenbach, Janine; Verbsky, James W; Bossuyt, Xavier; Doffinger, Rainer; Abel, Laurent; Puel, Anne; Casanova, Jean-Laurent

    2011-01-01

    Autosomal recessive interleukin-1 receptor-associated kinase (IRAK)-4 and myeloid differentiation factor (MyD)88 deficiencies impair Toll-like receptor (TLR)- and interleukin-1 receptor-mediated immunity. We documented the clinical features and outcome of 48 patients with IRAK-4 deficiency and 12 patients with MyD88 deficiency, from 37 kindreds in 15 countries. The clinical features of IRAK-4 and MyD88 deficiency were indistinguishable. There were no severe viral, parasitic, and fungal diseases, and the range of bacterial infections was narrow. Noninvasive bacterial infections occurred in 52 patients, with a high incidence of infections of the upper respiratory tract and the skin, mostly caused by Pseudomonas aeruginosa and Staphylococcus aureus, respectively. The leading threat was invasive pneumococcal disease, documented in 41 patients (68%) and causing 72 documented invasive infections (52.2%). P. aeruginosa and Staph. aureus documented invasive infections also occurred (16.7% and 16%, respectively, in 25% and 25% of patients). Systemic signs of inflammation were usually weak or delayed. The first invasive infection occurred before the age of 2 years in 53 (88.3%) and in the neonatal period in 19 (32.7%) patients. Multiple or recurrent invasive infections were observed in most survivors (n = 36/50, 72%). PMID:21057262

  10. Clinical features and treatment response of solid neuroendocrine breast carcinoma to adjuvant chemotherapy and endocrine therapy.

    PubMed

    Zhu, Yuliang; Li, Qun; Gao, Jianming; He, Zhenyu; Sun, Rui; Shen, Guoping; Zhang, Haibo; Xia, Weixiong; Xu, Junjie

    2013-01-01

    Solid neuroendocrine breast carcinoma (solid NEBC) is a relatively uncommon malignant tumor of the breast. The purpose of our study was to explore the incidence and clinical features of this tumor, and to evaluate the efficacy of adjuvant chemotherapy and endocrine therapy for patients with solid NEBC. Of 7542 breast cancers registered during the period from March 2004 to April 2011, 22 patients (0.29%) who underwent surgery had tumors that were histologically confirmed as solid NEBC, and were enrolled in this study. The age range of these patients was 29-77 years (mean 52.5 years). Patients were staged according to the 7th edition of the pathologic tumor-node-metastasis (pTNM) staging system. Biopsies or resection specimens were reviewed and reclassified according to the World Health Organization (WHO) 2003 classification. We recorded clinical features including gender and age, chief complaint, and past medical history, tumor characteristics including size, location, preoperative diagnosis, and pathologic and immunohistochemical findings, the therapeutic schedule, and the follow-up results. Solid NEBC is a rare and distinct category of malignant disease of the breast, with good prognosis, and in most early-stage cases, is resectable. The role of adjuvant chemotherapy and endocrine therapy in solid NEBC may be limited and should be studied further. PMID:23721399

  11. The Clinical Features and Bacteriological Characterizations of Bone and Joint Tuberculosis in China

    PubMed Central

    Chen, Su-Ting; Zhao, Li-Ping; Dong, Wei-Jie; Gu, Yun-Ting; Li, Yun-Xu; Dong, Ling-Ling; Ma, Yi-Feng; Qin, Shi-Bing; Huang, Hai-Rong

    2015-01-01

    Bone and Joint tuberculosis (BJTB) constitutes about 10% of total extra-pulmonary TB cases. Since the BJTB is a paucibacillary condition, there has been no systematic study on the bacterial characterization, especially the epidemiological feature. Here we collected the mycobacterial clinical isolates, analyzed the clinical features and the bacteriological characteristics from 113 BJTB cases reported in China. The mean age of the cases was 40.33 years while most of the patients fell into the 20–29 year age group; local pain was the most common onset symptom of BJTB cases; mean time from symptom onset to BJTB diagnosis was 13.16 months. 31 isolates were defined as drug resistant, including 15 multidrug resistant (MDR) and 2 extensively drug resistant (XDR) isolates according to the drug susceptibility test outcomes; after spoligotyping, 87.6% (99/113) isolates were categorized as Beijing family. In contrast to the isolates from pulmonary tuberculosis patients, here the MIRU-VNTR assay did not find anything significant. A prolonged time span for BJTB diagnosis highlights the requirement of paying further attention to BJTB infection in China. This study provides essential insights into the demographic and microbial characteristics of BJTB cases in China. PMID:26053666

  12. Clinical and computed tomography features of adult abdominopelvic desmoplastic small round cell tumor

    PubMed Central

    Shen, Xun-Ze; Zhao, Jian-Guo; Wu, Jian-Jun; Liu, Fang

    2014-01-01

    To investigate the clinical and computed tomography (CT) features of desmoplastic small round cell tumor (DSRCT), we retrospectively analyzed the clinical presentations, treatment and outcome, as well as CT manifestations of four cases of DSRCT confirmed by surgery and pathology. The CT manifestations of DSRCT were as follows: (1) multiple soft-tissue masses or diffuse peritoneal thickening in the abdomen and pelvis, with the dominant mass usually located in the pelvic cavity; (2) masses without an apparent organ-based primary site; (3) mild to moderate homogeneous or heterogeneous enhancement in solid area on enhanced CT; and (4) secondary manifestations, such as ascites, hepatic metastases, lymphadenopathy, hydronephrosis and hydroureter. The prognosis and overall survival rates were generally poor. Commonly used treatment strategies including aggressive tumor resection, polychemotherapy, and radiotherapy, showed various therapeutic effects. CT of DSRCT shows characteristic features that are helpful in diagnosis. Early discovery and complete resection, coupled with postoperative adjuvant chemotherapy, are important for prognosis of DSRCT. Whole abdominopelvic rather than locoregional radiotherapy is more effective for unresectable DSRCT. PMID:24803835

  13. Cardio-Facio-Cutaneous Syndrome: Clinical Features, Diagnosis, and Management Guidelines

    PubMed Central

    Magoulas, Pilar L.; Adi, Saleh; Kavamura, Maria Ines; Neri, Giovanni; Noonan, Jacqueline; Pierpont, Elizabeth I.; Reinker, Kent; Roberts, Amy E.; Shankar, Suma; Sullivan, Joseph; Wolford, Melinda; Conger, Brenda; Santa Cruz, Molly; Rauen, Katherine A.

    2014-01-01

    Cardio-facio-cutaneous syndrome (CFC) is one of the RASopathies that bears many clinical features in common with the other syndromes in this group, most notably Noonan syndrome and Costello syndrome. CFC is genetically heterogeneous and caused by gene mutations in the Ras/mitogen-activated protein kinase pathway. The major features of CFC include characteristic craniofacial dysmorphology, congenital heart disease, dermatologic abnormalities, growth retardation, and intellectual disability. It is essential that this condition be differentiated from other RASopathies, as a correct diagnosis is important for appropriate medical management and determining recurrence risk. Children and adults with CFC require multidisciplinary care from specialists, and the need for comprehensive management has been apparent to families and health care professionals caring for affected individuals. To address this need, CFC International, a nonprofit family support organization that provides a forum for information, support, and facilitation of research in basic medical and social issues affecting individuals with CFC, organized a consensus conference. Experts in multiple medical specialties provided clinical management guidelines for pediatricians and other care providers. These guidelines will assist in an accurate diagnosis of individuals with CFC, provide best practice recommendations, and facilitate long-term medical care. PMID:25180280

  14. Clinical features of axillary osmidrosis: a retrospective chart review of 723 Japanese patients.

    PubMed

    Morioka, Daichi; Ohkubo, Fumio; Amikura, Yoshiyasu

    2013-05-01

    Axillary osmidrosis often disturbs a person's social life, particularly in Asian countries. However, the clinical aspects of this condition have not been well documented in the English-language published work. This study aimed to provide information on the features of axillary osmidrosis, with a particular focus on sex differences. A retrospective review was made of the charts for 723 Japanese patients (492 female, 231 male). The mean age at initial presentation (29.1 years) was nearly the same for males and females. Almost all patients (96.1%) had wet earwax, which was extremely high compared to its frequency in the general Japanese population. An association with hyperhidrosis was seen in 61.8% of these patients. Subjective odor levels in female patients were significantly lower than those in males (P < 0.001). A positive family history was more frequent for females than for males (P < 0.001), and prior treatment history was also more frequent for females than for males (P < 0.015). Most patients (86.6%) had received some treatments in our clinic. There were significantly fewer females who underwent surgical treatments compared to males (P = 0.026), as females preferred less invasive techniques (P < 0.001). Several features, including male/female ratios, and associations of wet earwax and hyperhidrosis, corresponded to previously reported data on axillary osmidrosis. Female patients were more concerned with axillary odor than males, and females had a tendency for polysurgery. PMID:23451913

  15. Clinical Features in Juvenile-Onset Ankylosing Spondylitis Patients Carrying Different B27 Subtypes

    PubMed Central

    Mou, Yikun; Zhang, Pingping; Li, Qiuxia; Lin, Zhiming; Liao, Zetao; Wei, Qiujing; Gu, Jieruo

    2015-01-01

    Background. Ankylosing spondylitis (AS) is a common rheumatic disease and is characterized by inflammation of the axial skeleton. HLA-B27 is strongly associated with AS. Juvenile-onset AS (JAS) with disease onset before 16 years of age differs from adult-onset AS (AAS) in many respects. Objective. To compare the clinical features in JAS with different B27 subtypes and analyze the differences between JAS and AAS. Methods. 145 JAS and 360 AAS patients were included. The demographic data, clinical manifestations, laboratory markers, Bath AS indices, and B27 subtypes were recorded. Results. Peripheral arthritis, enthesitis, BASDAI, ESR, and CRP were significantly higher in JAS patients with HLA-B*2704 than those with B27-negative. Enthesitis and ESR were significantly higher in patients with HLA-B*2705 than those with B27-negative. The onset age of HLA-B*2715 group was much earlier than the other groups. The peripheral arthritis, enthesitis, and hip joint involvement in JAS with HLA-B*2704 were significantly higher than those in AAS with HLA-B*2704. Conclusion. JAS with different B27 subtypes had similar features in most of manifestations; JAS and AAS patients with the same subtype could have distinctive courses. Early diagnosis, hip detection, and control of systemic active inflammation in JAS patients will be helpful for improving the prognosis. PMID:26273634

  16. The Clinical Features and Bacteriological Characterizations of Bone and Joint Tuberculosis in China.

    PubMed

    Chen, Su-Ting; Zhao, Li-Ping; Dong, Wei-Jie; Gu, Yun-Ting; Li, Yun-Xu; Dong, Ling-Ling; Ma, Yi-Feng; Qin, Shi-Bing; Huang, Hai-Rong

    2015-01-01

    Bone and Joint tuberculosis (BJTB) constitutes about 10% of total extra-pulmonary TB cases. Since the BJTB is a paucibacillary condition, there has been no systematic study on the bacterial characterization, especially the epidemiological feature. Here we collected the mycobacterial clinical isolates, analyzed the clinical features and the bacteriological characteristics from 113 BJTB cases reported in China. The mean age of the cases was 40.33 years while most of the patients fell into the 20-29 year age group; local pain was the most common onset symptom of BJTB cases; mean time from symptom onset to BJTB diagnosis was 13.16 months. 31 isolates were defined as drug resistant, including 15 multidrug resistant (MDR) and 2 extensively drug resistant (XDR) isolates according to the drug susceptibility test outcomes; after spoligotyping, 87.6% (99/113) isolates were categorized as Beijing family. In contrast to the isolates from pulmonary tuberculosis patients, here the MIRU-VNTR assay did not find anything significant. A prolonged time span for BJTB diagnosis highlights the requirement of paying further attention to BJTB infection in China. This study provides essential insights into the demographic and microbial characteristics of BJTB cases in China. PMID:26053666

  17. Primary vs. Secondary Antibody Deficiency: Clinical Features and Infection Outcomes of Immunoglobulin Replacement

    PubMed Central

    Duraisingham, Sai S.; Buckland, Matthew; Dempster, John; Lorenzo, Lorena; Grigoriadou, Sofia; Longhurst, Hilary J.

    2014-01-01

    Secondary antibody deficiency can occur as a result of haematological malignancies or certain medications, but not much is known about the clinical and immunological features of this group of patients as a whole. Here we describe a cohort of 167 patients with primary or secondary antibody deficiencies on immunoglobulin (Ig)-replacement treatment. The demographics, causes of immunodeficiency, diagnostic delay, clinical and laboratory features, and infection frequency were analysed retrospectively. Chemotherapy for B cell lymphoma and the use of Rituximab, corticosteroids or immunosuppressive medications were the most common causes of secondary antibody deficiency in this cohort. There was no difference in diagnostic delay or bronchiectasis between primary and secondary antibody deficiency patients, and both groups experienced disorders associated with immune dysregulation. Secondary antibody deficiency patients had similar baseline levels of serum IgG, but higher IgM and IgA, and a higher frequency of switched memory B cells than primary antibody deficiency patients. Serious and non-serious infections before and after Ig-replacement were also compared in both groups. Although secondary antibody deficiency patients had more serious infections before initiation of Ig-replacement, treatment resulted in a significant reduction of serious and non-serious infections in both primary and secondary antibody deficiency patients. Patients with secondary antibody deficiency experience similar delays in diagnosis as primary antibody deficiency patients and can also benefit from immunoglobulin-replacement treatment. PMID:24971644

  18. JAG1 Mutation Spectrum and Origin in Chinese Children with Clinical Features of Alagille Syndrome

    PubMed Central

    Wang, Xiaohong; Guo, Hongmei; Wang, Huijun; Zhao, Jing; Qiu, Yiling; Abuduxikuer, Kuerbanjiang; Wang, Jianshe

    2015-01-01

    Alagille syndrome is an autosomal dominant disorder that results from defects in the Notch signaling pathway, which is most frequently due to JAG1 mutations. This study investigated the rate, spectrum, and origin of JAG1 mutations in 91 Chinese children presenting with at least two clinical features of Alagille syndrome (cholestasis, heart murmur, skeletal abnormalities, ocular abnormalities, characteristic facial features, and renal abnormalities). Direct sequencing and/or multiplex-ligation-dependent probe amplification were performed in these patients, and segregation analysis was performed using samples available from the parents. JAG1 disease-causing mutations were detected in 70/91 (76.9%) patients, including 29/70 (41.4%) small deletions, 6/70 (8.6%) small insertions, 16/70 (22.9%) nonsense mutations, 8/70 (11.4%) splice-site mutations, 6/70 (9.4%) missense mutations, and 5/70 (7.1%) gross deletions. Of the mutations detected, 45/62 (72.6%) were novel, and almost all were unique, with the exception of c.439C>T, c.439+1G>A, c.703C>T, c.1382_1383delAC, c.2698C>T, and c.2990C>A, which were detected in two cases each; three cases exhibited entire gene deletions. A majority (69.2%) of the point and frameshift mutations could be detected by the sequencing of eleven exons (exons 3, 5, 6, 11, 14, 16, 18, 21, and 23–25). The mutation detection rate was 50.0% (10/20) in atypical cases that only presented with two or three clinical features of Alagille syndrome. Segregation analysis revealed that 81.1% (30/37) of these mutations were de novo. In conclusion, JAG1 mutations are present in the majority of Chinese pediatric patients with clinical features of Alagille syndrome, and the mutations concentrate on different exons from other reports. Genetic study is important for the diagnosis of atypical Alagille syndrome in Chinese patients. PMID:26076142

  19. Heterogeneity of clinical features and corresponding antibodies in seven patients with anti-NMDA receptor encephalitis

    PubMed Central

    SÜHS, KURT-WOLFRAM; WEGNER, FLORIAN; SKRIPULETZ, THOMAS; TREBST, CORINNA; TAYEB, SAID BEN; RAAB, PETER; STANGEL, MARTIN

    2015-01-01

    Anti-N-methyl D-aspartate (NMDA) receptor encephalitis is the most common type of encephalitis in the spectrum of autoimmune encephalitis defined by antibodies targeting neuronal surface antigens. In the present study, the clinical spectrum of this disease is presented using instructive cases in correlation with the anti-NMDA receptor antibody titers in the cerebrospinal fluid (CSF) and serum. A total of 7 female patients admitted to the hospital of Hannover Medical School (Hannover, Germany) between 2008 and 2014 were diagnosed with anti-NMDA receptor encephalitis. Among these patients, 3 cases were selected to illustrate the range of similar and distinct clinical features across the spectrum of the disease and to compare anti-NMDA antibody levels throughout the disease course. All patients received immunosuppressive treatment with methylprednisolone, intravenous immunoglobulin and/or plasmapheresis, followed in the majority of patients by second-line therapy with rituximab and cyclophosphamide. The disease course correlated with NMDA receptor antibody titers, and to a greater extent with the ratio between antibody titer and protein concentration. A favorable clinical outcome with a modified Rankin Scale (mRS) score of ≤1 was achieved in 4 patients, 1 patient had an mRS score of 2 after 3 months of observation only, whereas 2 patients remained severely impaired (mRS score 4). Early and aggressive immunosuppressive treatment appears to support a good clinical outcome; however, the clinical signs and symptoms differ distinctively and treatment decisions have to be made on an individual basis. PMID:26622479

  20. Clinical Features for Mild Hand, Foot and Mouth Disease in China

    PubMed Central

    Liu, Baoyan; Luo, Lin; Yan, Shiyan; Wen, Tiancai; Bai, Wenjing; Li, Hongjiao; Zhang, Guoliang; Lu, Xiaoying; Liu, Yan; He, Liyun

    2015-01-01

    Background Mild hand, foot and mouth disease (HFMD) is at a critical stage owing to its ease of communicability and a higher risk of developing severe complications and death. Clinical diagnosis of mild HFMD was made by the presenting symptoms and signs (symptoms in brief) alone. We aim to evaluate the frequencies of symptoms in a retrospective case series study. Methods We collected epidemiological, demographic, clinical, and laboratory data from outpatient and inpatient settings on the clinical data warehouse system. We principally described the frequencies of symptoms of mild HFMD. Correlations between symptoms with laboratory-confirmed cases were then analyzed. Results The clinical data warehouse system included 3649 probable cases, between 2010 and 2012, of which 956 (26.20%) were laboratory confirmed. The peak incidence was identified in children 2 years of age. A total of 370 of the 956 laboratory confirmed cases (38.70%) were associated with enterovirus 71 (EV71). Logistic regression analysis adjusted for geographical variables, age, sex, month of onset, and time from onset to diagnosis showed that the clinical features constipation (P<0.0001; adjusted OR, 95%CI (2.99, 2.28–3.91)), and blisters (P<0.0001; adjusted OR, 95%CI (2.16, 1.82–2.56)) were positively correlated with the confirmed cases. Conclusions This is the largest case series study, including all the guideline-mentioned symptoms of mild HFMD. Our findings suggest that blisters and constipation should be considered as potential warning signs while front-line clinicians manage surges of children diagnosed with mild HFMD during a pandemic. PMID:26302092

  1. Vitreoretinal lymphoma: a 20-year review of incidence, clinical and cytologic features, treatment, and outcomes.

    TOXLINE Toxicology Bibliographic Information

    Levasseur SD; Wittenberg LA; White VA

    2013-01-01

    OBJECTIVES: To determine the incidence and clinical and cytologic diagnostic accuracy of vitreoretinal lymphoma (VRL) and to evaluate its clinical features, management, and outcomes in a cohort of patients who underwent diagnostic vitrectomy.METHODS: Retrospective medical record review of 463 diagnostic vitrectomy specimens from 430 patients collected from October 1, 1990, through December 31, 2010, from Vancouver General Hospital and the British Columbia Cancer Agency.RESULTS: A total of 22 patients were diagnosed as having VRL with a preoperative clinical diagnostic sensitivity of 77%, specificity of 73%, positive predictive value of 13%, and negative predictive value of 98%. The cytologic diagnostic sensitivity was 87% (27 of 31 specimens). The incidence of VRL in British Columbia doubled from 1990 to 2010, with a final incidence of 0.047 cases per 100 000 people per year. The mean age at diagnosis was 66 years. Seventeen patients (77%) were women. The initial diagnosis of lymphoma was VRL in 19 patients (86%), of whom 7 (37%) had concurrent central nervous system lymphoma. Recurrent disease was found in 11 patients. Large B-cell lymphoma was diagnosed in 20 patients (91%). The median progression-free survival was 11 months, and the median survival was 33 months from the initial diagnosis.CONCLUSIONS: Vitreoretinal lymphoma remains a clinical diagnostic challenge. Early clinical suspicion with subsequent diagnostic vitrectomy for cytologic analysis and collaboration with the oncology department is critical to appropriate and prompt staging and treatment. More interdisciplinary studies are required to further characterize VRL and maximize the therapeutic options, thus improving the morbidity and mortality associated with the disease.

  2. Epidemiology and Clinical Features of Pulmonary Nontuberculous Mycobacteriosis in Nagasaki, Japan

    PubMed Central

    Ide, Shotaro; Nakamura, Shigeki; Yamamoto, Yoshihiro; Kohno, Yoshihisa; Fukuda, Yuichi; Ikeda, Hideki; Sasaki, Eisuke; Yanagihara, Katsunori; Higashiyama, Yasuhito; Hashiguchi, Kohji; Futsuki, Yoji; Inoue, Yuichi; Fukushima, Kiyoyasu; Suyama, Naofumi; Kohno, Shigeru

    2015-01-01

    Background and Objectives Recent reports indicate that the incidence of nontuberculous mycobacterial-lung disease (NTM-LD) is increasing. This study aimed to investigate the epidemiology and clinical features of NTM-LD patients in Nagasaki prefecture, Japan to identify the negative prognostic factors for NTM-LD in Japan. Methods The medical records of patients newly diagnosed with NTM-LD in eleven hospitals in Nagasaki prefecture between January 2001 and February 2010 were reviewed. Data regarding the annual population of each region and the incidence of all forms of tuberculosis were collected to assess geographic variations in NTM-LD incidence, isolates, and radiological features. Results A total 975 patients were diagnosed with NTM-LD. The incidence increased over the study period and reached 11.0 and 10.1 per 100,000 population in 2008 and 2009, respectively. M. intracellulare was the most common pathogen in the southern region, and M. avium most common in other regions. The most common radiographic pattern was the nodular-bronchiectatic pattern. Age >60 years, body mass index <18.5 kg/m2, underlying lung disease, and cavitary pattern were the negative prognostic factors at the 1-year follow-up. Conclusions The incidence of NTM-LD has been increasing in Nagasaki prefecture. The isolates and radiographic features of patients vary markedly by region. PMID:26020948

  3. Combined central and peripheral demyelination: Clinical features, diagnostic findings, and treatment.

    PubMed

    Cortese, A; Franciotta, D; Alfonsi, E; Visigalli, N; Zardini, E; Diamanti, L; Prunetti, P; Osera, C; Gastaldi, M; Berzero, G; Pichiecchio, A; Piccolo, G; Lozza, A; Piscosquito, G; Salsano, E; Ceroni, M; Moglia, A; Bono, G; Pareyson, D; Marchioni, E

    2016-04-15

    Combined central and peripheral demyelination (CCPD) is rare, and current knowledge is based on case reports and small case series. The aim of our study was to describe the clinical features, diagnostic results, treatment and outcomes in a large cohort of patients with CCPD. Thirty-one patients entered this retrospective, observational, two-center study. In 20 patients (65%) CCPD presented, after an infection, as myeloradiculoneuropathy, encephalopathy, cranial neuropathy, length-dependent peripheral neuropathy, or pseudo-Guillain-Barré syndrome. Demyelinating features of peripheral nerve damage fulfilling European Federation of Neurological Societies/Peripheral Nerve Society (EFNS/PNS) electrodiagnostic criteria for CIDP were found in 23 patients (74%), and spatial dissemination of demyelinating lesions on brain MRI fulfilling the 2010 McDonald criteria for multiple sclerosis (MS) in 11 (46%). Two thirds of the patients had a relapsing or progressive disease course, usually related to the appearance of new spinal cord lesions or worsening of the peripheral neuropathy, and showed unsatisfactory responses to high-dose corticosteroids and intravenous immunoglobulins. The clinical presentation of CCPD was severe in 22 patients (71%), who were left significantly disabled. Our data suggest that CCPD has heterogeneous features and shows frequent post-infectious onset, primary peripheral nervous system or central nervous system involvement, a monophasic or chronic disease course, inadequate response to treatments, and a generally poor outcome. We therefore conclude that the current diagnostic criteria for MS and CIDP may not fully encompass the spectrum of possible manifestations of CCPD, whose pathogenesis remains largely unknown. PMID:27000248

  4. The clinical and genetic features of COPD-asthma overlap syndrome.

    PubMed

    Hardin, Megan; Cho, Michael; McDonald, Merry-Lynn; Beaty, Terri; Ramsdell, Joe; Bhatt, Surya; van Beek, Edwin J R; Make, Barry J; Crapo, James D; Silverman, Edwin K; Hersh, Craig P

    2014-08-01

    Individuals with chronic obstructive pulmonary disease (COPD) and asthma are an important but poorly characterised group. The genetic determinants of COPD and asthma overlap have not been studied. The aim of this study was to identify clinical features and genetic risk factors for COPD and asthma overlap. Subjects were current or former smoking non-Hispanic whites or African-Americans with COPD. Overlap subjects reported a history of physician-diagnosed asthma before the age of 40 years. We compared clinical and radiographic features between COPD and overlap subjects. We performed genome-wide association studies (GWAS) in the non-Hispanic whites and African-American populations, and combined these results in a meta-analysis. More females and African-Americans reported a history of asthma. Overlap subjects had more severe and more frequent respiratory exacerbations, less emphysema and greater airway wall thickness compared to subjects with COPD alone. The non-Hispanic white GWAS identified single nucleotide polymorphisms in the genes CSMD1 (rs11779254, p=1.57 × 10(-6)) and SOX5 (rs59569785, p=1.61 × 10(-6)) and the meta-analysis identified single nucleotide polymorphisms in the gene GPR65 (rs6574978, p=1.18 × 10(-7)) associated with COPD and asthma overlap. Overlap subjects have more exacerbations, less emphysema and more airway disease for any degree of lung function impairment compared to COPD alone. We identified novel genetic variants associated with this syndrome. COPD and asthma overlap is an important syndrome and may require distinct clinical management. PMID:24876173

  5. Aberrant expression of DNA damage response proteins is associated with breast cancer subtype and clinical features

    PubMed Central

    Guler, Gulnur; Himmetoglu, Cigdem; Jimenez, Rafael E.; Geyer, Susan M.; Wang, Wenle P.; Costinean, Stefan; Pilarski, Robert T.; Morrison, Carl; Suren, Dinc; Liu, Jianhua; Chen, Jingchun; Kamal, Jyoti; Shapiro, Charles L.

    2013-01-01

    Landmark studies of the status of DNA damage checkpoints and associated repair functions in preneoplastic and neoplastic cells has focused attention on importance of these pathways in cancer development, and inhibitors of repair pathways are in clinical trials for treatment of triple negative breast cancer. Cancer heterogeneity suggests that specific cancer subtypes will have distinct mechanisms of DNA damage survival, dependent on biological context. In this study, status of DNA damage response (DDR)-associated proteins was examined in breast cancer subtypes in association with clinical features; 479 breast cancers were examined for expression of DDR proteins ?H2AX, BRCA1, pChk2, and p53, DNA damage-sensitive tumor suppressors Fhit and Wwox, and Wwox-interacting proteins Ap2?, Ap2?, ErbB4, and correlations among proteins, tumor subtypes, and clinical features were assessed. In a multivariable model, triple negative cancers showed significantly reduced Fhit and Wwox, increased p53 and Ap2? protein expression, and were significantly more likely than other subtype tumors to exhibit aberrant expression of two or more DDR-associated proteins. Disease-free survival was associated with subtype, Fhit and membrane ErbB4 expression level and aberrant expression of multiple DDR-associated proteins. These results suggest that definition of specific DNA repair and checkpoint defects in subgroups of triple negative cancer might identify new treatment targets. Expression of Wwox and its interactor, ErbB4, was highly significantly reduced in metastatic tissues vs. matched primary tissues, suggesting that Wwox signal pathway loss contributes to lymph node metastasis, perhaps by allowing survival of tumor cells that have detached from basement membranes, as proposed for the role of Wwox in ovarian cancer spread. PMID:21069451

  6. Clinical and Laboratory Predictors of Distinct Histopathogical Features of Lupus Nephritis

    PubMed Central

    Mavragani, Clio P.; Fragoulis, George E.; Somarakis, George; Drosos, Alexandros; Tzioufas, Athanasios G.; Moutsopoulos, Haralampos M.

    2015-01-01

    Abstract The authors aimed to explore whether distinct clinical, serological, and urinalysis findings are associated with specific histological classes of lupus nephritis. Clinical and laboratory features were recorded at the time of clinical diagnosis from 297 consecutive patients with biopsy-confirmed lupus nephritis. Univariate and logistic regression analyses were performed and a risk score was developed to estimate the risk for developing different classes of lupus nephritis. Variables independently associated with class II included absence of malar rash, negative anti-dsDNA, and ≤5 urine leucocytes/high power field (hpf); with III/IV: age at nephritis diagnosis ≤32 years old, presence of musculoskeletal features, new-onset hypertension, positive anti-dsDNA, >5 urine leucocytes/hpf, creatinine >1.2 mg/dL, cellular casts >1/hpf, and absence of nephrotic range proteinuria; with V: age at nephritis diagnosis >32 years, malar rash, absence of musculoskeletal complaints or serum C3 hypocomplementemia, nephrotic range proteinuria, and ≤9 urine erythrocytes/hpf. A risk predictive score of specific histological classes was calculated for each patient. Associations between 2, 3 or more risk factors with specific histological classes were also revealed [Odds ratios (95% confidence interval) (≥2 risk factors) was 6.7 (2.8–17.4) for class II nephritis, 15.6 (5.1–47.8), and 8.2 (3.6–19.0) for classes III/IV and for class V, respectively (≥3 risk factors)]. The identification of independent factors associated with specific classes of lupus nephritis can provide guidance in selecting specific therapeutic modalities, particularly in cases in which renal biopsy is contraindicated. PMID:26020385

  7. Demographic, clinical, and laboratory features of Turkish patients with late onset ankylosing spondylitis

    PubMed Central

    Karaarslan, Ahmet; Yilmaz, Hatice; Aycan, Hakan; Orman, Mehmet; Kobak, Senol

    2015-01-01

    Ankylosing spondylitis (AS) is a chronic inflammatory disease, which typically begins in early decades of life with primarily axial joints involvement. This disease rarely affects patients older than 50 years of age. The aim of this study was to compare and evaluate the demographic, clinical, and laboratory features of late onset and early onset AS patients who were followed up in a single rheumatology center. A total of 339 patients who have been diagnosed with AS according to modified New York criteria were included in the study. The patients whose initial symptoms were observed after 50 years of age were accepted as late onset AS. Out of 339 patients, 27 (7.9%) were diagnosed as late onset AS and 312 (92.3%) patients were evaluated as early onset AS. Of 27 late onset patients, 10 were male and 17 were female. Delay in the diagnosis was 5.8 years for early onset AS, while it was 3.8 years for late onset AS (p = 0.001). Higher levels of acute phase reactants and more methotrexate (MTX) use were detected in early onset AS patients compared to late onset AS (p = 0.001, p = 0.007, respectively). Statistically, there was no difference between these two groups, with regard to disease clinical activity indexes, anthropometric measurement parameters, uveitis and peripheral joint involvement. In this study, we showed that early and late onset AS patients may present with different clinical, genetic, and laboratory features. Late onset AS patients are characterized with lower human leukocyte antigen-B27 sequence, less inflammatory sign, delayed diagnosis, and less MTX and anti-tumor necrosis factor alpha drug usage. PMID:26295296

  8. Gambling disorder in financial markets: Clinical and treatment-related features

    PubMed Central

    Shin, Young-Chul; Choi, Sam-Wook; Ha, Juwon; Choi, Jung-Seok; Kim, Dai-Jin

    2015-01-01

    Background and Aims To date, few studies have examined the clinical manifestation of disordered gamblers in financial markets. This study examined the differences in the clinical and treatment-related features of gambling disorder between financial markets and horse races. Methods Subjects who met the DSM-IV criteria for pathological gambling (PG) and who sought treatment were assessed by retrospective chart review. One hundred forty-four subjects were included in this sample, which consisted of the following groups: financial markets (n?=?45; 28.6%) and horse races (n?=?99; 71.4%). Results Multiple similar manifestations were found between the groups, including severity of PG, age of PG onset, amounts of gambling debts, drinking days per week, depressive mood, duration of seeking treatment after the onset of PG, and treatment follow-up duration. However, disordered gamblers who invested in the financial market were significantly more likely to be educated (p?=?0.003), live with their spouses (p?=?0.007), have full-time jobs (p?=?0.006), and they were more likely to participate in the first type of gambling than the horse races group (p<0.001). Furthermore, the financial markets group received the anti-craving medication less often than the horse races group (p?=?0.04). Discussion and Conclusions: These findings suggest that disordered gamblers in financial markets show different socio-demographic, clinical and treatment-related features compared with the horse race gamblers, despite a similar severity of gambling disorder. Understanding these differential manifestations may provide insight into prevention and treatment development for specific types of gambling. PMID:26690619

  9. Overlap of clinical features of Smith-Magenis & Down Syndrome in newborns and infants

    SciTech Connect

    Thomson, K.A.; Finucane, B.M.; Bauer, M.S.

    1994-09-01

    Smith-Magenis Syndrome (SMS) frequently goes unrecognized in newborns and infants as these patients do not yet demonstrate the characteristic behavioral phenotype and may only present with developmental delay and physical dysmorphism. Six of Hall`s ten cardinal features of trisomy 21 in the newborn are also frequently found in newborns with SMS, leading to an early presumptive diagnosis of DS in many of these patients. CASE No. 1: Based on clinical findings, a presumptive diagnosis of DS was given to the patient in the newborn period. Chromosome analysis of peripheral blood revealed a normal 46,XX karyotype. Given this result, the possibility of mosaic DS was raised, and a skin fibroblast study done. Again, the karyotype was reported as normal. Clinical features and cytogenetic analysis confirmed a diagnosis of SMS when the patient was 8 years old. CASE No. 2: A presumptive diagnosis of DS was made in an infant with hypotonia, facial dysmorphisms and congenital heart defects. A routine chromosome analysis was ordered, which revealed a 46,XY,del(17)(p11.2p11.2) karyotype. Indeed, approximately 38% of blood samples referred to our laboratory to rule out DS in an infant failed to demonstrate trisomy for chromosome 21. Given the high degree of clinical overlap with Down Syndrome, the diagnosis of SMS should be considered in all such patients. Additional analysis should be done to look for deletion 17p11.2 when faced with a {open_quotes}normal{close_quotes} karyotype in an infant referred to rule out DS.

  10. The clinical and demographic features of dizziness related to general health among the Saudi population

    PubMed Central

    Al Saif, Amer; Al Senany, Samira

    2015-01-01

    [Purpose] The purpose of this study was to determine the validity, demographic features of the newly developed Amer Dizziness Diagnostic Scale (ADDS), provide differential diagnosis of the vestibular disorders, assist in the clinical research and practice activities of health workers as well as to understand the probability of the utilization of the ADDS as a first-line evaluation tool in general clinical practice. [Subjects and Methods] Two hundred subjects of various ages including both male and female patients with a history of vertigo and/or dizziness were included in the study and evaluated once using the ADDS. [Results] There were more female (59.5%) than male (49.5) patients in this study. Additionally, we found that most patients (64.4%) had a central mediated problem. In addition, the Amer Dizziness Diagnostic Scale has been found to have both a sensitivity and specificity of 96% that can adequately determine the possible diagnosis of vestibular disorders. [Conclusion] This study has demonstrated the validity of the ADDS scale, the predominance of female involvement related to supplementary medication, vitamin D deficiency, general lifestyle factors, and fluid retention, high sensitivity and specificity, provide differential diagnosis of vestibular disorders that could be used as a first-line evaluation tool in general clinics. PMID:26644673

  11. Clinical features of sickle cell disease in eastern Saudi Arab children.

    PubMed

    el Mouzan, M I; al Awamy, B H; al Torki, M T

    1990-01-01

    The clinical features of sickle cell disease (SCD) in Saudi Arab children of eastern origin are presented. One hundred and seventy-three children were diagnosed at birth and followed prospectively from 3 months to up to 4 years of age. There were 87 boys and 86 girls. Genotype distribution included 146 sickle cell anemia, 24 sickle beta +-thalassemia, two sickle beta 0-thalassemia, and one sickle hemoglobin C disease. Of our patients, 7% presented in the first 12 months of age and 27% remained asymptomatic at 4 years. Painful crises of bones and joints were the most common initial symptoms, followed by dactylitis, abdominal crises and acute splenic sequestration (ASS), occurring in 60%, 31.6%, 6.7%, and 1.7% of the patients, respectively. None of the patients presented with severe bacterial infections. During this study, 175 sickle cell crises were documented, but only 16 (9.1%) required hospital admissions. There were no deaths in this series. High hemoglobin F levels correlated with delayed clinical presentation and reduced number of crises. We conclude that SCD in children of eastern origin is clinically milder than earlier descriptions from the Eastern Province of Saudi Arabia. PMID:1689968

  12. Recent epidemiological and clinical features of acute hepatitis B in a single center of China

    PubMed Central

    Chen, Xiaohong; Fu, Chengtao; Liu, Jia; Shan, Lei; Liu, Chenglin

    2015-01-01

    Aim: This study was to investigate the epidemiological and clinical features of acute hepatitis B. Methods: A retrospective study of 177 acute hepatitis B patients with an average age of 36.03 years and range of 7-62 years was conducted from Jan 2005 to Feb 2011. The epidemiological and clinical parameters were investigated. The serological markers and biochemical tests were examined. Results: 76.84% (n = 136) patients were icteric type, while 23.16% (n = 41) were non-icteric type. Other clinical manifestations for acute hepatitis patients included fatigue (82.49%), gastrointestinal symptoms (66.10%), yellowish discoloration of skin and sclera, fever (31.07%), rash 10 (5.65%), joint pain (2.82%) and headache (1.69%). One case presented with acute renal failure associated with acute hepatitis B. Nine cases suffered from fulminant hepatitis. After treatment, hepatic function was significantly improved (P < 0.05). For serological markers, 54 (30.51%) and 119 (67.23%) patients had HBsAg and HBV-DNA seroconversion respectively. Four deaths occurred due to the severe complications associated by acute infection of HBV during half a year period follow up. Conclusions: Adult males with occupation of workers and farmers are the high-risk population of acute hepatitis B in China. Several complications associated with acute hepatitis B should be noticed. PMID:26629198

  13. Prognosis in anorexia nervosa as influenced by clinical features, treatment and self-perception.

    PubMed Central

    Garfinkel, P. E.; Moldofsky, H.; Garner, D. M.

    1977-01-01

    The use of behaviour modification in the treatment of anorexia nervosa has been controversial and has not undergone controlled studies. An investigation of 42 patients with anorexia nervosa treated a mean of 31.7 months earlier was conducted to determine factors related to prognosis. The three areas studied were (a) clinical features, (b) treatment (behaviour modification versus medical and psychologic therapy) and (c) self-perception (with a distorting photographic technique). Clinical outcome was assessed as "excellent" in 7, "much improved" in 14, "symptomatic" in 13 and "poor" In 8. Analysis of variance showed that vomiting (P less than 0.01), bulimia (P less than 0.01), poor educational/vocational adjustment (P less than 0.01) and higher global clinical score (P less than 0.001) were associated with a poor prognosis. There were no differences at follow-up between patients treated by behaviour modification and those treated by other methods; the data suggest that behaviour modification, while not harmful, does not provide long-term benefits. Self-estimates of body size were highly predictive of outcome (P less than 0.002); all patients with a poor outcome overestimated their size. Patients with only marginal improvement might be helped by treatment directed to self-perceptual disturbances. PMID:912628

  14. Clinical and laboratory features of systemic sclerosis complicated with localized scleroderma.

    PubMed

    Toki, Sayaka; Motegi, Sei-ichiro; Yamada, Kazuya; Uchiyama, Akihiko; Kanai, Sahori; Yamanaka, Masayoshi; Ishikawa, Osamu

    2015-03-01

    Localized scleroderma (LSc) primarily affects skin, whereas systemic sclerosis (SSc) affects skin and various internal organs. LSc and SSc are considered to be basically different diseases, and there is no transition between them. However, LSc and SSc have several common characteristics, including endothelial cell dysfunction, immune activation, and excess fibrosis of the skin, and there exist several SSc cases complicated with LSc during the course of SSc. Clinical and laboratory characteristics of SSc patients with LSc remain unclear. We investigated the clinical and laboratory features of 8 SSc patients with LSc among 220 SSc patients (3.6%). The types of LSc included plaque (5/8), guttate (2/8), and linear type (1/8). All cases were diagnosed as having SSc within 5 years before or after the appearance of LSc. In three cases of SSc with LSc (37.5%), LSc skin lesions preceded clinical symptoms of SSc. Young age, negative antinuclear antibody, and positive anti-RNA polymerase III antibody were significantly prevalent in SSc patients with LSc. The positivity of anticentromere antibody tended to be prevalent in SSc patients without LSc. No significant difference in the frequency of complications, such as interstitial lung disease, reflux esophagitis, and pulmonary artery hypertension, was observed. The awareness of these characteristic of SSc with LSc are essential to establish an early diagnosis and treatment. PMID:25582037

  15. New Onset Diplopia in Patients with Nasopharyngeal Carcinoma following Concurrent Chemoradiotherapy: Clinical Features and Etiology

    PubMed Central

    Kau, Hui-Chuan; Tsai, Chieh-Chih

    2015-01-01

    Purpose. To investigate the clinical features and etiology of nasopharyngeal carcinoma (NPC) patients with new onset diplopia after concurrent chemoradiotherapy. Methods. We retrospectively reviewed the medical records of NPC patients with new onset diplopia after concurrent chemoradiotherapy from 1998 to 2012 in a cancer center. Their clinical manifestations of ocular motor dysfunction in relation to etiology were investigated. Results. Twenty-three NPC patients with diplopia after concurrent chemoradiotherapy were enrolled in this study. Unilateral cranial VI palsy (91%) was the most common ocular motor dysfunction in these patients. The new onset diplopia in these patients was secondary to tumor recurrence in 12 cases (52%), radiation neuropathy in 8 cases (35%), and skull base osteoradionecrosis in 3 cases (13%). Patients with tumor recurrence and skull base osteoradionecrosis tended to present a rapid progression of the nerve palsy or severe ocular duction deficit. Patients with radiation neuropathy were often manifested by incomplete nerve palsy with insidious onset and slow progression. Patients with osteoradionecrosis were associated with poor prognosis. Conclusions. A new onset diplopia in NPC patients could be caused by tumor recurrence or treatment complications such as radiation neuropathy and osteoradionecrosis, and they show diverse clinical symptoms, course, and outcome. PMID:26558279

  16. From the nephrologist's point of view: diversity of causes and clinical features of acute kidney injury

    PubMed Central

    Bienholz, Anja; Wilde, Benjamin; Kribben, Andreas

    2015-01-01

    Acute kidney injury (AKI) is a clinical syndrome with multiple entities. Although AKI implies renal damage, functional impairment or both, diagnosis is solely based on the functional parameters of serum creatinine and urine output. The latest definition was provided by the Kidney Disease Improving Global Outcomes (KDIGO) working group in 2012. Independent of the underlying disease, and even in the case of full recovery, AKI is associated with an increased morbidity and mortality. Awareness of the patient's individual risk profile and the diversity of causes and clinical features of AKI is pivotal for optimization of prophylaxes, diagnosis and therapy of each form of AKI. A differentiated and individualized approach is required to improve patient mortality, morbidity, long-term kidney function and eventually the quality of life. In this review, we provide an overview of the different clinical settings in which specific forms of AKI may occur and point out possible diagnostic as well as therapeutic approaches. Secifically AKI is discussed in the context of non-kidney organ failure, organ transplantation, sepsis, malignancy and autoimmune disease. PMID:26251707

  17. Clinical features and prognosis of a sample of patients with trisomy 13 (Patau syndrome) from Brazil.

    PubMed

    Petry, Patrícia; Polli, Janaina B; Mattos, Vinícius F; Rosa, Rosana C M; Zen, Paulo R G; Graziadio, Carla; Paskulin, Giorgio A; Rosa, Rafael F M

    2013-06-01

    Trisomy 13 or Patau syndrome (PS) is a chromosomal disorder characterized by a well known presentation of multiple congenital anomalies. Our objective was to determine the clinical features and prognosis observed in a sample of patients with PS. The series was composed of patients with diagnosis of PS consecutively evaluated by a Clinical Genetics Service from a reference hospital of southern Brazil, in the period between 1975 and 2012. Statistical analysis was performed using PEPI program (version 4.0), with two-tailed Fisher's exact test for comparison of frequencies (P<0.05). The sample consisted of 30 patients, 60% male, median age at first evaluation of 9 days. Full trisomy of chromosome 13 was the main cytogenetic alteration (73%). The major clinical findings included: cryptorchidism (78%), abnormal auricles (77%), congenital heart defects (76%), polydactyly (63%), microphthalmia (60%) and micrognathia (50%). Four patients (13%) simultaneously had micro/anophthalmia, oral clefts and polydactyly. Some findings were only observed in our sample and included, among others, preauricular tags (10%), duplication of the hallux (3%) and spots following the lines of Blaschko (3%). Mosaicism (20% of cases) had a statistically significant association only with absence of cryptorchidism. The median of survival was 26 days. Patients with and without mosaicism had similar median of survival. Our findings, in agreement with the literature, show that the anomalies in patients with PS can be quite variable, sometimes even atypical. There is no pathognomonic finding, which may make the early identification of these patients challenging. PMID:23613355

  18. EPIDEMIOLOGY, CLINICAL AND LABORATORY FEATURES OF CRIMEAN-CONGO HEMORRHAGIC FEVER IN GEORGIA.

    PubMed

    Vashakidze, E; Mikadze, I

    2015-10-01

    Crimean-Congo hemorrhagic fever virus transmitted to humans by Hyalomma ticks or by direct contact with the blood of infected humans or domestic animals. The most common clinical signs of CCHF are fever, nausea, headache, diarrhea, myalgia, petechial rash, and bleeding. CCHF is a severe disease in humans with a fatality rate up to 15-85%. This study was undertaken to determine the predictors of fatality among patients with CCHF based on epidemiological, clinical, and laboratory findings. 34 patients were enrolled in the study, aged 4 to 77; 17 - male and 17 female. 3 of them were fatal cases. All of them were from Shua Kartli: Khashuri, Gori and Kaspi districts, involved in farming/handling livestock and the history of tick bite was present in most of patients. Evaluation of the epidemiological characteristics of this cases showed that the female to male ratio was nearly similar. The disease is common in the rural areas of the region, mostly in the actively working age group and almost all patients were farmers. The results of our study show that the most cardinal clinical and laboratory features of Crimean-Congo hemorrhagic fever are - acute beginning of disease, high fever, intoxication and hemorrhagic symptoms, thrombocytopenia, high level of aminotransferases and creatine. Predictors of fatality are: an altered mental status, in early stage of disease dramatic decreased thrombocytes count and significantly high level of aspartate aminotransferase, also longer the mean prothrombin time and INR. PMID:26483375

  19. [Epidemiological, clinical and biological features of infantile visceral leishmaniasis at Kairouan hospital (Tunisia): about 240 cases].

    PubMed

    Aissi, W; Ben Hellel, K; Habboul, Z; Ben Sghaier, I; Harrat, Z; Bouratbine, A; Aoun, K

    2015-10-01

    Visceral leishmaniasis (VL) is an important health problem in Tunisia. It is most common in children under five years of age. The governorate of Kairouan (central Tunisia) is one of the most affected foci. The aim of this study was to update the epidemiological, clinical and biological features of the disease. The study concerned all VL cases admitted in the pediatric department of Kairouan hospital during 10 years (from 2004 to 2013). For every patient included in this study and when available, data such as sex, age, geographical origin and the condition of the patient at admission (clinical and biological findings) were collected. The myelogram results were also exploited as well as results of serology, culture, Real-Time polymerase chain reaction (PCR) and isoenzymatic typing of Leishmania isolates. Two hundred and forty cases were recorded. Rural cases (87.1%) were more prevalent than urban ones (12.9%). Age ranged from 2 months to 13 years (median, 18 months). The female/male sex ratio was 1.03. The diagnosis delays ranged from 1 day to 8 months (median, 15 days). The most common clinical symptoms at admission were splenomegaly (97.9%), fever (79.9%) and hepatomegaly (47.3%). The principal biological disturbances were anemia (91.7%), thrombocytopenia (83.9%) and leucopenia (56.1%). Among the different biological tools used for diagnosis confirmation, PCR was the most sensitive (100%). All 43 typed stocks corresponded to Leishmania (L.) infantum species. Although zymodeme MON-1 was predictably the most frequent (27 cases), L. infantum MON-24 and MON-80 were responsible of no negligible numbers of cases (11 and 5 cases respectively). The present study gave an updated epidemiological, clinical and biological profile of infantile VL in Tunisia. The diagnosis delays were considerably shortened compared to previous reports. However, an even earlier diagnosis of cases is needed to improve the disease prognosis. Real-Time PCR showed to be helpful in VL management. PMID:26168849

  20. Clinical Features of Candidiasis in Patients With Inherited Interleukin 12 Receptor ?1 Deficiency

    PubMed Central

    Ouederni, Monia; Sanal, Ozden; Ikincio?ullari, Aydan; Tezcan, Ilhan; Dogu, Figen; Sologuren, Ithaisa; Pedraza-Sánchez, Sigifredo; Keser, Melike; Tanir, Gonul; Nieuwhof, Chris; Colino, Elena; Kumararatne, Dinakantha; Levy, Jacov; Kutukculer, Necil; Aytekin, Caner; Herrera-Ramos, Estefanía; Bhatti, Micah; Karaca, Neslihan; Barbouche, Ridha; Broides, Arnon; Goudouris, Ekaterini; Franco, José Luis; Parvaneh, Nima; Reisli, Ismail; Strickler, Alexis; Shcherbina, Anna; Somer, Ayper; Segal, Anthony; Angel-Moreno, Alfonso; Lezana-Fernandez, José Luis; Bejaoui, Mohamed; Bobadilla-Del Valle, Miriam; Kachboura, Salem; Sentongo, Timothy; Ben-Mustapha, Imen; Bustamante, Jacinta; Picard, Capucine; Puel, Anne; Boisson-Dupuis, Stéphanie; Abel, Laurent; Casanova, Jean-Laurent; Rodríguez-Gallego, Carlos

    2014-01-01

    Background.?Interleukin 12R?1 (IL-12R?1)–deficient patients are prone to clinical disease caused by mycobacteria, Salmonella, and other intramacrophagic pathogens, probably because of impaired interleukin 12–dependent interferon ? production. About 25% of patients also display mucocutaneous candidiasis, probably owing to impaired interleukin 23–dependent interleukin 17 immunity. The clinical features and outcome of candidiasis in these patients have not been described before, to our knowledge. We report here the clinical signs of candidiasis in 35 patients with IL-12R?1 deficiency. Results.?Most (n = 71) of the 76 episodes of candidiasis were mucocutaneous. Isolated oropharyngeal candidiasis (OPC) was the most common presentation (59 episodes, 34 patients) and was recurrent or persistent in 26 patients. Esophageal candidiasis (n = 7) was associated with proven OPC in 2 episodes, and cutaneous candidiasis (n = 2) with OPC in 1 patient, whereas isolated vulvovaginal candidiasis (VVC; n = 3) was not. Five episodes of proven invasive candidiasis were documented in 4 patients; 1 of these episodes was community acquired in the absence of any other comorbid condition. The first episode of candidiasis occurred earlier in life (median age±standard deviation, 1.5 ± 7.87 years) than infections with environmental mycobacteria (4.29 ± 11.9 years), Mycobacterium tuberculosis (4 ± 3.12 years), or Salmonella species (4.58 ± 4.17 years) or other rare infections (3 ± 11.67 years). Candidiasis was the first documented infection in 19 of the 35 patients, despite the vaccination of 10 of these 19 patients with live bacille Calmette-Guérin. Conclusions.?Patients who are deficient in IL-12R?1 may have candidiasis, usually mucocutaneous, which is frequently recurrent or persistent. Candidiasis may be the first clinical manifestation in these patients. PMID:24186907

  1. Juvenile-Onset OCD: Clinical Features in Children, Adolescents and Adults

    PubMed Central

    Mancebo, Maria C.; Garcia, Abbe M.; Pinto, Anthony; Freeman, Jennifer B.; Przeworski, Amy; Stout, Robert; Kane, Joshua S.; Eisen, Jane L.; Rasmussen, Steven A.

    2009-01-01

    Objective To examine clinical correlates of juvenile-onset OCD across the lifespan. Method Intake data collected from 257 consecutive participants with a juvenile-onset of OCD (20 children, 44 adolescents, and 193 adults) in a naturalistic study of the clinical course of OCD were examined. Participants and parents of juvenile participants completed a structured diagnostic interview, rater-administered severity measures, and self-report questionnaires. Results Children and adolescents (i.e. juveniles) shared similar features with the exception of age at onset and OCD symptom expression. Clinically meaningful differences between juvenile and adult participants were also found. Compared to adults, juveniles were more likely to be male, recall an earlier age at OCD onset, and have different lifetime comorbidity patterns. Conclusion Juvenile-onset OCD symptom expression is remarkably similar across the lifespan. However, findings also suggest clinically meaningful differences between juveniles and adults. Future work using a prospective design will improve our understanding of course patterns of juvenile-onset OCD. Significant Outcomes •Children were less likely than either adolescent or adults to report aggressive obsessions and mental rituals. •Males were overrepresented in the juvenile sample but gender was equally distributed in the adult sample •Compared to lifetime comorbidity patterns of adults, juveniles showed elevated rates of ADHD and lower rates of mood, substance use and eating disorders Limitations •The cross-sectional design with retrospective recall regarding course prior to study entry limits conclusions about the course of OCD. •The adult sample is limited to adults whose symptoms persisted into adulthood and therefore results cannot be generalized to all individuals with a juvenile-onset. •The small number of very young children (under age 10) may have limited power to detect differences among children and adolescents. PMID:18699949

  2. Clinical and genetic features of pediatric acute lymphoblastic leukemia in Down syndrome in the Nordic countries

    PubMed Central

    2014-01-01

    Background Children with Down syndrome (DS) have an increased risk for acute lymphoblastic leukemia (ALL). Although previous studies have shown that DS-ALL differs clinically and genetically from non-DS-ALL, much remains to be elucidated as regards genetic and prognostic factors in DS-ALL. Methods To address clinical and genetic differences between DS-ALL and non-DS-ALL and to identify prognostic factors in DS-ALL, we ascertained and reviewed all 128 pediatric DS-ALL diagnosed in the Nordic countries between 1981 and 2010. Their clinical and genetic features were compared with those of the 4,647 B-cell precursor (BCP) ALL cases diagnosed during the same time period. Results All 128 DS-ALL were BCP ALL, comprising 2.7% of all such cases. The 5-year event-free survival (EFS) and overall survival (OS) were significantly (P?=?0.026 and P?=?0.003, respectively) worse for DS-ALL patients with white blood cell counts ?50 × 109/l. The age distributions varied between the DS and non-DS cases, with age peaks at 2 and 3 years, respectively; none of the DS patients had infant ALL (P?=?0.029). The platelet counts were lower in the DS-ALL group (P?=?0.005). Abnormal karyotypes were more common in non-DS-ALL (P?clinical differences between DS-ALL and non-DS-ALL. PMID:24726034

  3. What's the Clinical Features of Colitis in Elderly People in Long-Term Care Facilities?

    PubMed Central

    Yoon, So Yoon; Na, Sun-Kyung; Ryu, Jae-In; Yun, Hye-Won; Lee, Min-Jin; Song, Eun-Mi; Kim, Seong-Eun; Jung, Hye-Kyung; Shim, Ki-Nam

    2015-01-01

    Background/Aims As life expectancy has increased, the number of elderly patients who need long-term care has grown rapidly. Mortality in patients with colitis in long-term care facilities (LTCFs) is increasing. We intend to investigate the main causes of colitis in LTCFs compared to those of colitis in local communities, and to identify the clinical features and risk factors of patients with colitis in LTCFs. Methods We retrospectively analyzed epidemiology, medical conditions, laboratory values, diagnoses, and clinical courses of elderly patients aged ?65 who were admitted to the Ewha Womans University hospital with colitis between January 2007 and July 2012. Results Patients with colitis in LTCFs (n=20) were compared with elderly patients with colitis in local communities (n=154). Fifty-five percent of colitis in LTCFs was caused by Clostridium difficile infection (CDI), 30% was due to ischemic colitis, and 15% was due to non-specific colitis. Non-specific colitis was the most common (63%) in the community group. Clinical outcomes were also significantly different between both groups: higher mortality (10.0% vs. 0.64%, P=0.021), higher requirement for intensive care units care (50.0% vs. 18.8%, P<0.01) in LTCFs group. In univariate analysis, the most significant risk factor for death in patients in LTCFs was decreased mental faculties. Conclusions Patients in LTCFs showed worse clinical outcomes and a much higher prevalence of CDI compared to patients from local communities. We suggest early and active evaluation, such as endoscopic examination, for differential diagnosis in patients in LTCFs. PMID:25931997

  4. Geographical, clinical, clinicopathological and radiographic features of canine angiostrongylosis in Irish dogs: a retrospective study

    PubMed Central

    2012-01-01

    Background Angiostrongylus vasorum infection is associated with high morbidity and mortality in dogs. Although recognised in Ireland, there are no large series of cases reported. The aim of this retrospective study was to identify pertinent clinical and geographical features in Irish dogs. Results The case records of dogs presenting to the University College Dublin Veterinary Hospital (1999-2010) were reviewed. A contemporaneous review of external faecal parasitology and post mortem submissions was also performed. A positive diagnosis of angiostrogylosis was identified in 49 dogs including 24 clinical, 10 post mortem and 15 external faecal sample cases. The majority (n = 44 (90%)) resided on the East Coast. In the clinical cases, the median age was 20 months, 29% of cases were older than 2 years. Clinical features included cardiorespiratory (63%), coagulopathic (71%) and other (63%) signs. Cough (n = 10), dyspnoea (n = 5) and tachypnoea (n = 3) were the most common cardiorespiratory abnormalities. Of animals with evidence of coagulopathy, excessive haemorrhage from a wound (n = 5), airway haemorrhage (n = 9), epistaxis (n = 3), haematoma (n = 4), suspected haemarthrosis (n = 3), neurological signs (n = 2) and haematuria (n = 1) were found. Ten dogs were anaemic, of which two were severe (haematocrit ? 0.20 L/L). Ten animals had thrombocytopenia, with four severely affected (?50 × 109/L). PT and APTT values were prolonged in 4 (24%) of 17 and a BMBT was prolonged in 5 (63%) of 8 cases. Vague signs of exercise intolerance (n = 6), lethargy (n = 6) and weakness (n = 2) were identified, with two (8%) animals having only these signs. In one animal the diagnosis appeared to be incidental. Thoracic radiographs (n = 19) identified abnormalities in 100% of cases. Four (17%) animals died before or within 24 hours of treatment and post mortem examinations confirmed angiostrongylosis. Fenbendazole was administered in 19 cases, 18 (95%) recovered. Two animals were euthanised, one which failed to respond to therapy and another in which an ante mortem diagnosis had not been made. Conclusions Angiostrongylosis is not uncommon in Ireland, is not confined to young dogs or the East Coast and can present with a wide variety of signs, particularly coagulopathic, respiratory or neurological signs. PMID:22433388

  5. Identification of Clinical Features and Autoantibodies Associated With Calcinosis in Dermatomyositis

    PubMed Central

    Valenzuela, Antonia; Chung, Lorinda; Casciola-Rosen, Livia; Fiorentino, David

    2015-01-01

    IMPORTANCE Prior studies have estimated that up to 20% of adults with dermatomyositis (DM) have calcinosis, which can lead to significant morbidity. Identification of risk factors may provide a better understanding of the pathogenesis and ultimately therapy for this difficult clinical problem. Risk factors for calcinosis in adults with DM have not been extensively studied. OBJECTIVES To determine the prevalence of calcinosis and to identify associated clinical features in a cohort of extensively phenotyped adults with DM. DESIGN, SETTING, AND PARTICIPANTS A cross-sectional study of 126 patients diagnosed as having DM from January 1, 2006, through January 1, 2013, was performed. Patients were adults (?18 years of age) attending the Stanford University Medical Center clinic. MAIN OUTCOMES AND MEASURES Calcinosis, defined as the presence of calcium deposition in the skin and subcutaneous tissues on physical examination. RESULTS Fourteen patients (11.1%) had calcinosis, with the extremities most commonly involved. Patients with vs those without calcinosis had a longer disease duration (median, 6.9 years; range, 2.4–18.1; vs median, 3.9 years; range, 0.2-19.2 years; P = .003) and more fingertip ulcers (50.0% vs 9.3%, P < .001). An association between calcinosis and both interstitial lung disease and anti–MDA-5 autoantibodies was identified, but this association did not persist in multivariate models that adjusted for fingertip ulcers. Fingertip ulcers and disease duration were strongly associated with calcinosis in all multivariate models, independent of the underlying autoantibody present. Autoantibodies to NXP-2 were associated with calcinosis (odds ratio, 15.52; 95% CI, 2.01-119.90), whereas anti–transcriptional intermediary factor 1-? antibodies were protective (odds ratio, 0.2; 95% CI, 0.01-0.99) in multivariate analyses that adjusted for fingertip ulcers and other covariates. CONCLUSIONS AND RELEVANCE Calcinosis was a relatively uncommon clinical feature in our cohort of adults with DM. Our data suggest that calcinosis is positively associated with longer disease duration, fingertip ulcers, and NXP-2 autoantibodies and negatively associated with transcriptional intermediary factor 1-? antibodies. A common vascular mechanism may underlie the development of both calcinosis and fingertip ulcers in patients with DM. PMID:24869801

  6. Molecular and clinical features of inherited neuropathies due to PMP22 duplication.

    PubMed

    Watila, M M; Balarabe, S A

    2015-08-15

    PMP22 is a transmembrane glycoprotein component of myelin, important for myelin functioning. Mutation of PMP22 gene which encodes for the production of PMP22 glycoprotein is associated with a variety of inherited neuropathies. This literature review sought to review the molecular mechanism and clinical features of inherited neuropathies caused by PMP22 duplication. PMP22 duplication causes CMT1A which accounts for more than half of all CMT cases and about 70% of CMT1 cases. It manifests with muscle weakness, depressed reflexes, impaired distal sensation, hand and foot deformities, slowing of NCV and onion bulbs. With no specific treatment available, it is managed conservatively. Future treatment may be based on the molecular genetics of the disease. PMID:26076881

  7. Gastric tumours in hereditary cancer syndromes: clinical features, molecular biology and strategies for prevention.

    PubMed

    Sereno, María; Aguayo, Cristina; Guillén Ponce, Carmen; Gómez-Raposo, César; Zambrana, Francisco; Gómez-López, Miriam; Casado, Enrique

    2011-09-01

    Gastric cancer is the major cause of cancer-related deaths worldwide. The majority of them are classified as sporadic, whereas the remaining 10% exhibit familial clustering. Hereditary diffuse gastric cancer (HDGC) syndrome is the most important condition that leads to hereditary gastric cancer. However, other hereditary cancer syndromes, such as hereditary non-polyposis colorectal cancer, familial adenomatous polyposis, Peutz-Jeghers syndrome, Li-Fraumeni syndrome and hereditary breast and ovarian cancer, entail a higher risk compared to the general population for developing this kind of neoplasia. In this review, we describe briefly the most important aspects related to clinical features, molecular biology and strategies for prevention in hereditary gastric associated to different cancer syndromes. PMID:21865131

  8. Foreign Body Granulomas after the Use of Dermal Fillers: Pathophysiology, Clinical Appearance, Histologic Features, and Treatment

    PubMed Central

    Lee, Jeong Min

    2015-01-01

    A foreign body granuloma is a non-allergic chronic inflammatory reaction that is mainly composed of multinucleated giant cells. Foreign body granulomas may occur after the administration of any dermal filler. Factors such as the volume of the injection, impurities present in the fillers, and the physical properties of fillers affect granuloma formation. The formation of granulomas involves five phases: protein adsorption, macrophage adhesion, macrophage fusion, and crosstalk. The clinical and pathologic features of granulomas vary depending on the type of filler that causes them. Foreign body granulomas can be treated effectively with intralesional corticosteroid injections. Surgical excisions of granulomas tend to be incomplete because granulomas have ill-defined borders and moreover, surgical excisions may leave scars and deformities. PMID:25798398

  9. Clinical, clinicopathologic, and pathologic features of plague in cats: 119 cases (1977-1988).

    PubMed

    Eidson, M; Thilsted, J P; Rollag, O J

    1991-11-01

    The clinical, clinicopathologic, and pathologic features of 119 cases of plague in cats from 1977 to 1988 in New Mexico were reviewed. Fifty-three percent were bubonic, 10% were pneumonic, 8% were septicemic, and 29% with neither buboes nor pneumonia were unclassified (but presumed septicemic). Three quarters of the lymphadenopathy was submandibular, and almost half of this was bilateral. One third of all cats had the triad of lethargy, anorexia, and fever in addition to buboes; one quarter had this triad plus abscesses. The overall mortality rate was 33%, with the greatest risk of death in pneumonic cases. For confirmatory diagnosis with a single laboratory test, fluorescent antibody was most frequently used (39% of cases). Cultures and passive hemagluttination titers were also used for confirmation. Gross and histologic findings depended on the type of plague, with Yersinia pestis organisms visualized in buboes of cats with bubonic plague and in the alveolar spaces and respiratory tubules of cats with pneumonic plague. PMID:1752774

  10. [Age-related clinical and laboratory features of patients with occluded main arteries of lower extremities].

    PubMed

    Shishina, R N; Pchelintseva, T A

    2013-01-01

    The study of clinical and laboratory features of patients with occluded main arteries of lower extremities included morphological characteristics of peripheral blood platelets in patients of different age in the acute period of the disease and after surgical treatment. The results were subjected to correlation analysis versus standard hemostatic parameters. Mean cell volume and enhanced anisocytosis proved the most informative morphological indicators. The mean platelet volume was increased in all patients before and after surgery especially in the elder age group. It reflected persistent activation of thrombocytopoiesis as confirmed by the studies of hemostasis. Therefore, these parameters may be used for additional testing in diagnostics of the risk of ischemic complications and repeated thrombosis. The timely prescription of auxiliary corrective therapy increases effectiveness of the treatment and the quality of life in the patients with occluded main arteries of lower extremities. PMID:24437185

  11. Clinical Features of Drug-induced Liver Injury According to Etiology

    PubMed Central

    Lee, Byoung Moo; Lee, Woong Cheul; Ahn, Pyoung; Kim, Jin Nyoung; Jeong, Soung Won; Park, Eui Ju; Lee, Sae Hwan; Kim, Sang Gyune; Cha, Sang-Woo; Kim, Young Seok; Cho, Young Deok; Kim, Hong Soo; Kim, Boo Sung

    2015-01-01

    Drug-induced liver injury (DILI) is an increasingly common cause of acute hepatitis. We examined clinical features and types of liver injury of 65 affected patients who underwent liver biopsy according DILI etiology. The major causes of DILI were the use of herbal medications (43.2%), prescribed medications (21.6%), and traditional therapeutic preparations and dietary supplements (35%). DILI from herbal medications, traditional therapeutic preparations, and dietary supplements was associated with higher elevations in aspartate aminotransferase (AST) and alanine aminotransferase (ALT) levels than was DILI from prescription medications. The types of liver injury based on the R ratio were hepatocellular (67.7%), mixed (10.8%), and cholestatic (21.5%). Herbal medications and traditional therapeutic preparations were more commonly associated with hepatocellular liver injury than were prescription medications (P = 0.002). Herbal medications and traditional therapeutic preparations induce more hepatocellular DILI and increased elevations in AST and ALT than prescribed medications. PMID:26713057

  12. Inflammatory myofibroblastic tumor: clinical, morphological, immunohistochemical and molecular features of a pediatric case.

    PubMed

    Buccoliero, Anna Maria; Ghionzoli, Marco; Castiglione, Francesca; Paglierani, Milena; Baroni, Gianna; Messineo, Antonio; Taddei, Gian Luigi

    2014-12-01

    Inflammatory myofibroblastic tumor is an uncommon tumor regarded as "intermediate malignancy". We present the clinical, pathological and molecular features of a mesenteric inflammatory myofibroblastic tumor in a 9-month-old male infant. The patient was referred to Anna Meyer Children Hospital of Florence, Italy, for an asymptomatic abdominal mass measuring about 7cm. The lesion was radically excised, and the postoperative course was uneventful. Histologically, the tumor was composed of spindle cells immunopositive for vimentin and desmin admixed with an inflammatory infiltrate. Rearrangement of ALK gene was demonstrated by FISH and immunohistochemistry (cytoplasmic, perinuclear and punctate immunocoloration). The peculiar punctate ALK immunocoloration suggested a possible unusual ALK gene rearrangement involving the CLTC gene. PMID:25149504

  13. [Clinical Features and Pathogenic Mechanisms of Parkinson Disease With Pure Apathy].

    PubMed

    Wang, Fang; Zhang, Wei

    2015-06-01

    Parkinson disease (PD) is a common neurodegenerative disease characterized by classical motor symptoms, including static tremor, bradykinesia, rigidity and postural and gait abnormalities. Besides, recent studies have found a variety of non-motor symptoms, including neuropsychiatric symptoms, sleep disorders, abnormal sensory and autonomic dysfunctions, etc. PD with pure apathy, referring to apathy without dementia and depression, is correlated with motor symptoms and other non-motor symptoms, and greatly reduces the activity of daily living and the quality of life for PD patients. The pathogenesis of PD with pure apathy involves the mechanisms of neuroanatomy, neuropathology, neurological biochemistry and neuroinflammation. This paper will introduce the clinical features and pathogenic mechanisms of PD with pure apathy. PMID:26521484

  14. Heterotopic ossification: Pathophysiology, clinical features, and the role of radiotherapy for prophylaxis

    SciTech Connect

    Balboni, Tracy A.; Gobezie, Reuben; Mamon, Harvey J. . E-mail: hmamon@partners.org

    2006-08-01

    Heterotopic ossification (HO) is a benign condition of abnormal formation of bone in soft tissue. HO is frequently asymptomatic, though when it is more severe it typically manifests as decreased range of motion at a nearby joint. HO has been recognized to occur in three distinct contexts-trauma, neurologic injury, and genetic abnormalities. The etiology of HO is incompletely understood. A posited theory is that HO results from the presence of osteoprogenitor cells pathologically induced by an imbalance in local or systemic factors. Individuals at high risk for HO development frequently undergo prophylaxis to prevent HO formation. The two most commonly employed modalities for prophylaxis are nonsteroidal anti-inflammatory drugs and radiation therapy. This review discusses HO pathophysiology, clinical features, and the role of radiotherapy for prophylaxis.

  15. Cardiac involvement in patients with cirrhosis: a focus on clinical features and diagnosis.

    PubMed

    Licata, Anna; Novo, Giuseppina; Colomba, Daniela; Tuttolomondo, Antonino; Galia, Massimo; Camma', Calogero

    2016-01-01

    Cirrhotic heart has been traditionally considered protected from cardiovascular disease, even if a large amount of literature has recently shown that patients affected by chronic liver disease are exposed to cardiovascular events, as well. Since the first recognition of cardiac involvement in cirrhosis, all published studies explain that decompensated cirrhotic patients suffer from haemodynamic changes, currently known as hyperdynamic syndrome, which finally lead to cirrhotic cardiomyopathy. This is defined by the presence of a subclinical systolic dysfunction unmasked under stress conditions, impaired diastolic function and electrophysiological abnormalities, in the absence of any known cardiac disease. In this review, we will discuss the clinical and diagnostic features of this condition, the prevalence of associated comorbidities, echocardiographic, electrocardiographic and cardiac magnetic resonance hallmarks and the possible diagnostic role of serum biomarkers. PMID:26065511

  16. Clinical, physiological, and radiological features of asthma–chronic obstructive pulmonary disease overlap syndrome

    PubMed Central

    Suzuki, Toshio; Tada, Yuji; Kawata, Naoko; Matsuura, Yukiko; Ikari, Jun; Kasahara, Yasunori; Tatsumi, Koichiro

    2015-01-01

    Background Asthma–chronic obstructive pulmonary disease (COPD) overlap syndrome (ACOS) is associated with rapid decline in lung function, poorer health-related quality-of-life outcomes, and frequent exacerbations, compared to COPD alone. Although the numbers of patients with ACOS have increased, there is little established evidence regarding diagnostic criteria and treatment options. Thus, the aim of our study was to clarify the clinical, physiological, and radiological features of patients with ACOS. Methods We examined a total of 100 patients with COPD and 40 patients with ACOS, who were selected based on clinical criteria. All patients underwent baseline testing, including a COPD assessment test, pulmonary function tests, and multidetector row computed tomography imaging. Percentage of low attenuation volume, percentage of wall area, and percentage of total cross-sectional area of pulmonary vessels less than 5 mm2 (%CSA <5) were determined using multidetector row computed tomography. ACOS patients were administered a fixed dose of budesonide/formoterol (160/4.5 μg, two inhalations; twice daily) for 12 weeks, after which the ACOS patients underwent multidetector row computed tomography to measure the same parameters. Results At baseline, the ACOS patients and COPD patients had a similar degree of airflow limitation, vital capacity, and residual volume. ACOS patients had higher COPD assessment test scores, percentage of wall area, and %CSA <5 than COPD patients. Compared to baseline, budesonide/formoterol treatment significantly increased the forced expiratory volume in 1 second and decreased the degree of airway wall thickness (percentage of wall area) as well as pulmonary microvascular density (%CSA <5) in ACOS patients. Conclusion Our results suggest that ACOS is characterized by an airway lesion–dominant phenotype, in contrast to COPD. Higher %CSA <5 might be a characteristic feature of ACOS. PMID:26028967

  17. Clinical Features and Outcomes of Patients With Genotype 3 Hepatitis C Virus Infection in Korea

    PubMed Central

    Cha, Ra Ri; Lee, Sang Soo; Lee, Chang Min; Ji, Sung Bok; Jung, Hee Cheul; Cho, Hyun Chin; Kim, Jin Joo; Lee, Jae Min; Kim, Hong Jun; Ha, Chang Yoon; Kim, Hyun Jin; Kim, Tae-Hyo; Jung, Woon Tae; Lee, Ok-Jae

    2016-01-01

    Abstract Hepatitis C virus (HCV) genotype 3 infection is very rare in high-income Asia Pacific. The aim of our retrospective observational study was to evaluate the incidence, clinical features, and treatment outcomes of patients with a genotype 3 HCV infection in the Gyeongnam Province of Korea. Ninety-eight consecutive patients diagnosed with a genotype 3 HCV infection at Gyeongsang National University Hospital, between January 2005 and December 2014, were enrolled into the study. Relevant characteristics of the study group included: 80.6% men, mean age of 41.8 years, and including 69 patients with chronic hepatitis, 25 with liver cirrhosis, and 4 with hepatocellular carcinoma (HCC). Risk factors for HCV infection, sustained virologic response rate, development of HCC, and mortality in patients with genotype 3 were retrospectively analyzed. Among all patients diagnosed with a HCV infection during the study period, the prevalence of genotype 3 was 7.3%. The incidence of genotype 3 was higher in young patients with a risk factor of IVDU (54.0%) and tattooing (62.3%). Among 45 treatment-naive genotype 3 patients, sustained virologic response was achieved with a combination of pegylated-interferon alpha and ribavirin in 75.6%. The cumulative 5-year incidence of HCC was 13.6%, and 8.9% for overall mortality. Liver cirrhosis at enrollment was an independent risk factor for HCC development. This is the first study to elucidate the clinical features and outcomes among the patients with HCV genotype 3 infection in Korea. Further prospective studies are needed to investigate transmission routes and outcomes for HCV genotype 3 infections. PMID:26871824

  18. Vascular malformations and hemangiolymphangiomas of the gastrointestinal tract: morphological features and clinical impact

    PubMed Central

    Handra-Luca, Adriana; Montgomery, Elizabeth

    2011-01-01

    Purpose: The purpose of our study was to describe the morphological features of gastrointestinal vascular malformations (VM) and of hemangiolymphangiomas (HLA) and to establish correlations with clinical characteristics. Significant findings: Fifteen VMs and 12 HLAs that were encountered over a period of 22 years, were retrospectively analyzed. The VMs often involved the colon, small intestine, but also the stomach, whereas none of the HLAs arose in the stomach. VMs were more frequently associated with gastrointestinal bleeding, ulcer and were larger than HLAs (p<0.01 for all comparisons). Intralesional hemorrhage and thrombosis were associated with VM (p=0.02 and p=0.05). Surgical resection was performed for 1 HLA and 14 VMs. Vessel abnormalities such as shunt vessels, wall tufts (excrescences) and arterialized veins were more frequent in VMs (p=0.01, p=0.04 and <0.01, respectively) whereas aneurysm-like cavities were observed in both lesion types. Mucosal abnormal vessels were observed only in VMs, whereas HLAs were associated with mucosal lymphatic clusters (p<0.01). Most HLAs contained a D2-40 hetero-geneously positive lymphatic component, were Glut-1 negative and CD31 reactive. There was no statistical difference in occurrence of associated autoimmune, tumoral and cardiovascular conditions between the two patient groups. Conclusions: The results of our study suggest that morphological features such as increased size, ulcer, thrombosis, hemorrhage and presence of aberrant mucosal vessels favor the diagnosis of VM. Co-existence of other clinical conditions such as cardiovascular disease, encountered in association with both lesion types, might exacerbate a tendency towards hemorrhage. PMID:21738815

  19. Epidemiological, clinical and biological features of malaria among children in Niamey, Niger

    PubMed Central

    Gay-Andrieu, Françoise; Adehossi, Eric; Lacroix, Véronique; Gagara, Moussa; Ibrahim, Maman Laminou; Kourna, Hama; Boureima, Hamadou

    2005-01-01

    Background Malaria takes a heavy toll in Niger, one of the world's poorest countries. Previous evaluations conducted in the context of the strategy for the Integrated Management of Childhood Illness, showed that 84% of severe malaria cases and 64 % of ordinary cases are not correctly managed. The aim of this survey was to describe epidemiological, clinical and biological features of malaria among <5 year-old children in the paediatric department of the National Hospital of Niamey, Niger's main referral hospital. Methods The study was performed in 2003 during the rainy season from July 25th to October 25th. Microscopic diagnosis of malaria, complete blood cell counts and measurement of glycaemia were performed in compliance with the routine procedure of the laboratory. Epidemiological data was collected through interviews with mothers. Results 256 children aged 3–60 months were included in the study. Anthropometrics and epidemiological data were typical of a very underprivileged population: 58% of the children were suffering from malnutrition and all were from poor families. Diagnosis of malaria was confirmed by microscopy in 52% of the cases. Clinical symptoms upon admission were non-specific, but there was a significant combination between a positive thick blood smear and neurological symptoms, and between a positive thick blood smear and splenomegaly. Thrombopaenia was also statistically more frequent among confirmed cases of malaria. The prevalence of severe malaria was 86%, including cases of severe anaemia among < 2 year-old children and neurological forms after 2 years of age. Overall mortality was 20% among confirmed cases and 21% among severe cases. Conclusions The study confirmed that malaria was a major burden for the National Hospital of Niamey. Children hospitalized for malaria had an underprivileged background. Two distinctive features were the prevalence of severe malaria and a high mortality rate. Medical and non-medical underlying factors which may explain such a situation are discussed. PMID:15703076

  20. Diagnostic accuracy of clinical examination features for identifying large rotator cuff tears in primary health care

    PubMed Central

    Cadogan, Angela; McNair, Peter; Laslett, Mark; Hing, Wayne; Taylor, Stephen

    2013-01-01

    Objectives: Rotator cuff tears are a common and disabling complaint. The early diagnosis of medium and large size rotator cuff tears can enhance the prognosis of the patient. The aim of this study was to identify clinical features with the strongest ability to accurately predict the presence of a medium, large or multitendon (MLM) rotator cuff tear in a primary care cohort. Methods: Participants were consecutively recruited from primary health care practices (n?=?203). All participants underwent a standardized history and physical examination, followed by a standardized X-ray series and diagnostic ultrasound scan. Clinical features associated with the presence of a MLM rotator cuff tear were identified (P<0.200), a logistic multiple regression model was derived for identifying a MLM rotator cuff tear and thereafter diagnostic accuracy was calculated. Results: A MLM rotator cuff tear was identified in 24 participants (11.8%). Constant pain and a painful arc in abduction were the strongest predictors of a MLM tear (adjusted odds ratio 3.04 and 13.97 respectively). Combinations of ten history and physical examination variables demonstrated highest levels of sensitivity when five or fewer were positive [100%, 95% confidence interval (CI): 0.86–1.00; negative likelihood ratio: 0.00, 95% CI: 0.00–0.28], and highest specificity when eight or more were positive (0.91, 95% CI: 0.86–0.95; positive likelihood ratio 4.66, 95% CI: 2.34–8.74). Discussion: Combinations of patient history and physical examination findings were able to accurately detect the presence of a MLM rotator cuff tear. These findings may aid the primary care clinician in more efficient and accurate identification of rotator cuff tears that may require further investigation or orthopedic consultation. PMID:24421626

  1. Dermoscopic and Clinical Features of Pigmented Skin Lesions of the Genital Area*

    PubMed Central

    Cengiz, Fatma Pelin; Emiroglu, Nazan; Wellenhof, Rainer Hofmann

    2015-01-01

    BACKGROUND The dermoscopic features of vulvar melanosis lesions are well known. To our knowledge, there are only a few case reports about dermoscopic features of pigmented genital lesions in male patients. OBJECTIVE To evaluate dermoscopic and clinical characteristics of benign lesions of the genital area in both males and females, and to assess the distinguishing dermoscopic criteria of vulvar melanosis and atypical melanocytic nevi of the genital type. METHODS 68 patients with pigmented genital lesions were included in this observational study (28 male and 40 female). A punch biopsy was taken from all pigmented lesions and histopathological examination was performed on all specimens. RESULTS We histopathologically diagnosed: genital melanosis in 40 lesions, atypical melanocytic nevi of the genital type in 15 lesions, melanocytic nevi in 9 lesions, seborrheic keratosis in 4 lesions. The most frequent locations were the glans penis (19 patients, 67.9%) in males and the labia minora (19 patients, 47.5%) in females. The mean age of patients with atypical nevi (28,6 ± 11,36) was significantly lower than the mean age of patients with genital melanosis (47,07 ± 15,33). CONCLUSIONS Parallel pattern is prominent in genital melanosis, ring-like pattern is only observed in genital melanosis. Most pigmented lesions on the genital area are solitary. Blue-white veil and irregular dots are only observed in AMNGT. According to these results, we propose that histopathological examination is performed, especially if blue-white veil and irregular dots are found by dermoscopy. PMID:25830986

  2. Clinical features and biomarkers of concussion and mild traumatic brain injury in pediatric patients.

    PubMed

    McCarthy, Matthew T; Kosofsky, Barry E

    2015-05-01

    There has been increasing awareness of the incidence and potential long-term consequences of mild traumatic brain injury (mTBI) in children and young adults. While parents, school systems, and athletic programs are clamoring for evidence-based guidelines, the field remains primitive in understanding the factors resulting in a spectrum of individual outcomes, most of which are complete, but some of which are not. In this article, we discuss the definition, epidemiology, clinical presentation, course, and outcomes of mTBI, with a focus on the pediatric population as the context for reviewing the mechanisms and pathophysiology mediating, and biomarkers reflective of, more significant concussion-induced brain injury. Our goal is to present a general overview of the features of mTBI in the pediatric population in order to provide a conceptual model for pediatricians and pediatric subspecialists. This model emphasizes the importance of establishing actionable, noninvasive biomarkers that are reflective of brain injury and that may identify those pediatric patients who can benefit from earlier and more aggressive interventions. We will focus on the specific features of mTBI in pediatric patients; although given the relative lack of research in the pediatric population, we will also extrapolate from research on adults. PMID:25809391

  3. Clinical features and surgical outcomes following closed reduction of arytenoid dislocation

    PubMed Central

    Lee, Seung Won; Park, Ki Nam; Welham, Nathan V.

    2014-01-01

    Importance Arytenoid dislocation is a rare condition characterized by vocal fold immobility and is easily mistaken as recurrent laryngeal nerve paralysis. Objective To describe presenting features, multimodal diagnostic evaluation, and surgical outcomes following closed reduction (CR) of arytenoid dislocation. Design, Setting and Participants Prospective case series at a single academic medical center. Evaluation and treatment data were obtained from 22 consecutive patients with arytenoid dislocation over a 7-year period. Interventions Patients underwent direct laryngoscopy and CR of the dislocated arytenoid, with adjunct injection laryngoplasty or botulinum toxin administration in select cases. Main outcomes and measures Initial diagnosis was confirmed using flexible laryngeal endoscopy with stroboscopy, computed tomography, electromyography, and interoperative palpation. Arytenoid motion (primary outcome measure) and vocal function data (secondary outcome measures) were collected before treatment and up to 6 months after treatment. Results Key history features included emergent intubation, elective intubation and external laryngeal trauma. Sixteen patients (73%) had anterior and 6 patients (27%) had posterior dislocation. One patient experienced spontaneous recovery. Following CR, with or without adjunct therapy, 18 of the remaining patients (86%) exhibited arytenoid motion recovery with concomitant voice improvement. Recovery was sustained at 6 months after CR. Closed Reduction performed within 21 days of the presumed dislocation event was associated with a superior arytenoid motion recovery rate. Conclusions and Relevance These data represent the largest clinical series on arytenoid dislocation with complete vocal function data and follow-up at 6 months after CR. These findings also corroborate existing evidence for early surgical intervention. PMID:25257336

  4. Primary Progressive Apraxia of Speech: Clinical Features and Acoustic and Neurologic Correlates

    PubMed Central

    Strand, Edythe A.; Clark, Heather; Machulda, Mary; Whitwell, Jennifer L.; Josephs, Keith A.

    2015-01-01

    Purpose This study summarizes 2 illustrative cases of a neurodegenerative speech disorder, primary progressive apraxia of speech (AOS), as a vehicle for providing an overview of the disorder and an approach to describing and quantifying its perceptual features and some of its temporal acoustic attributes. Method Two individuals with primary progressive AOS underwent speech-language and neurologic evaluations on 2 occasions, ranging from 2.0 to 7.5 years postonset. Performance on several tests, tasks, and rating scales, as well as several acoustic measures, were compared over time within and between cases. Acoustic measures were compared with performance of control speakers. Results Both patients initially presented with AOS as the only or predominant sign of disease and without aphasia or dysarthria. The presenting features and temporal progression were captured in an AOS Rating Scale, an Articulation Error Score, and temporal acoustic measures of utterance duration, syllable rates per second, rates of speechlike alternating motion and sequential motion, and a pairwise variability index measure. Conclusions AOS can be the predominant manifestation of neurodegenerative disease. Clinical ratings of its attributes and acoustic measures of some of its temporal characteristics can support its diagnosis and help quantify its salient characteristics and progression over time. PMID:25654422

  5. Cognition, Language, and Clinical Pathological Features of Non-Alzheimer’s Dementias: An Overview

    PubMed Central

    Reilly, Jamie; Rodriguez, Amy; Lamy, Martine; Neils-Strunjas, Jean

    2010-01-01

    There are many distinct forms of dementia whose pharmacological and behavioral management differ. Differential diagnosis among the dementia variants currently relies upon a weighted combination of genetic and protein biomarkers, neuroanatomical integrity, and behavior. Diagnostic specificity is complicated by a high degree of overlap in the initial presenting symptoms across dementia subtypes. For this reason, reliable markers are of considerable diagnostic value. Communication disorders have proven to be among the strongest predictors for discriminating among dementia subtypes. As such, Speech-Language Pathologists may be poised to make an increasingly visible contribution to dementia diagnosis and its ongoing management. The value and durability of this potential contribution, however, demands an improved discipline-wide knowledge base about the unique features associated with different dementia variants. To this end we provide an overview of cognition, language, and clinical pathological features of four of the most common non-Alzheimer’s dementias: Frontotemporal Dementia, Vascular Dementia, Lewy Body Disease Dementia, and Parkinson’s Disease Dementia. PMID:20493496

  6. Correlation of IL36RN mutation with different clinical features of pustular psoriasis in Chinese patients.

    PubMed

    Wang, Ting-Shun; Chiu, Hsien-Yi; Hong, Jin-Bong; Chan, Chih-Chieh; Lin, Sung-Jan; Tsai, Tsen-Fang

    2016-01-01

    Different studies have reported various values for the percentage of patients with IL36RN mutations, and it has also been reported that the sites of these mutations differ among different ethnicities. The current study was a cross-sectional study conducted to investigate the risk factors predicting IL36RN mutation in Chinese patients with different clinical features of pustular psoriasis. 57 Han Chinese patients, including 32 with generalized pustular psoriasis, 14 with palmoplantar pustulosis, 9 with plaque-type psoriasis with pustules, and 2 with erythrodermic psoriasis, were enrolled between March 2013 and July 2014. Blood samples were collected, genomic DNA was extracted from leukocytes, and polymerase chain reaction (PCR)-based Sanger sequencing was used to analyze the coding exons and flanking introns of the IL36RN gene. The patients with generalized pustular psoriasis exhibited the highest IL36RN mutation rate (75 %) among the aforementioned patient types, with the subgroup consisting of those patients who had features of acrodermatitis continua of Hallopeau exhibiting the highest c.115+6T>C mutation rate (93.8 %). In addition, early onset, ever generalized pustular psoriasis (more than two attacks), ever acrodermatitis continua of Hallopeau, inverse psoriasis, and a family history of pustular psoriasis were associated with IL36RN mutation. The c.115+6T>C mutation was the most common and the most important variant in all subtypes of pustular psoriasis with IL36RN mutations among our sample of Chinese patients. PMID:26589685

  7. Post-traumatic stress disorder in different types of stress (clinical features and treatment).

    PubMed

    Rumyantseva, G M; Stepanov, A L

    2008-01-01

    Two types of stress situation were compared: involvement in combat actions and working in the post-Chernobyl atomic energy station clean-up. A total of 30 subjects involved in combat actions (combatants) and 33 clean-up workers were observed for 5-6 years and 15-17 years after involvement in stress situations. Mean ages in the two groups were 27.0 +/- 2.8 and 43.7 +/- 4.5 years respectively. Clinical features were analyzed in terms of the major criteria of post-traumatic stress disorder (PTSD) - "immersion" in the experience, "avoidance," "hyperexcitability," and "social functioning." There were both common features in the two groups of subjects as well as individual characteristics dependent on the nature of the stress. Patients were treated with Coaxil at a dose of 37.5 mg/day for four weeks. In both groups of patients, Coaxil had the most favorable effects on immersion and hyperexcitability, which improved social adaptation. The "avoidance" symptom was more resistant. These studies lead to the conclusion that Coaxil is an effective agent for the treatment of different types of PTSD. PMID:18097761

  8. Clinically Important Features of Porphyrin and Heme Metabolism and the Porphyrias

    PubMed Central

    Besur, Siddesh; Hou, Weihong; Schmeltzer, Paul; Bonkovsky, Herbert L.

    2014-01-01

    Heme, like chlorophyll, is a primordial molecule and is one of the fundamental pigments of life. Disorders of normal heme synthesis may cause human diseases, including certain anemias (X-linked sideroblastic anemias) and porphyrias. Porphyrias are classified as hepatic and erythropoietic porphyrias based on the organ system in which heme precursors (5-aminolevulinic acid (ALA), porphobilinogen and porphyrins) are chiefly overproduced. The hepatic porphyrias are further subdivided into acute porphyrias and chronic hepatic porphyrias. The acute porphyrias include acute intermittent, hereditary copro-, variegate and ALA dehydratase deficiency porphyria. Chronic hepatic porphyrias include porphyria cutanea tarda and hepatoerythropoietic porphyria. The erythropoietic porphyrias include congenital erythropoietic porphyria (Gűnther’s disease) and erythropoietic protoporphyria. In this review, we summarize the key features of normal heme synthesis and its differing regulation in liver versus bone marrow. In both organs, principal regulation is exerted at the level of the first and rate-controlling enzyme, but by different molecules (heme in the liver and iron in the bone marrow). We also describe salient clinical, laboratory and genetic features of the eight types of porphyria. PMID:25372274

  9. Clinical features of Crohn's disease in Korean patients residing in Busan and Gyeongnam

    PubMed Central

    Lee, Eun Ji; Song, Geun Am; Lee, Jong hun; Kim, Hyung Wook; Jee, Sam Ryong; Park, Seun Ja; Kim, Hyun Jin; Park, Jong Ha

    2016-01-01

    Background/Aims Crohn's disease (CD) is a chronic inflammatory bowel disease that presents with variable features and repeated disease aggravation. The incidence of CD is increasing in Korea. We evaluated the clinical features of CD in a study population in Busan and Gyeongnam, Korea. Methods A hospital-based analysis included 619 patients diagnosed with CD between March 1986 and February 2013 from seven tertiary care hospitals in Busan and Gyeongnam. Individual case records were reviewed with regard to age at diagnosis, sex, disease location, disease behavior, and medical and surgical treatments received during the follow-up period. Results The cumulative frequency of patients diagnosed with CD revealed a continued increase in the number of cases reported yearly. The male-to-female ratio was 2.5:1 and the median age at diagnosis was 24 years. At diagnosis, 114 (18.4%) had isolated small bowel disease, 144 (23.3%) had isolated colonic disease, and 358 patients (57.8%) presented with disease in the small bowel and colon. The number of patients presenting with stricturing or penetrating disease behavior was 291 (47%) at the final evaluation. In total, 111 (17.9%) patients underwent intestinal resections. Conclusions A continued increase in the number of patients diagnosed with CD was found in Busan and Gyeongnam as observed in other regions. We report results similar to that of other Korean studies in terms of sex distribution, age, and location of disease. PMID:26884732

  10. Critical evaluation of the radiological and clinical features of adenomatoid odontogenic tumour

    PubMed Central

    Becker, T; Buchner, A; Kaffe, I

    2012-01-01

    Objectives The aim of this study was to evaluate the radiological and clinical features of adenomatoid odontogenic tumours (AOTs). Methods A total of 272 cases (267 from the English-language literature and 5 new cases) were analysed with special emphasis on their radiological features. Results The patients' ages at time of diagnosis ranged from 3 years to 82 years (mean 18.4 years). The maxilla-to-mandible ratio was 1.7:1. Mandibular lesions were significantly more frequent among patients older than 16 years (p = 0.032). Expansion of the cortex was significantly more prominent among patients older than 16 years (p = 0.045). There was a positive correlation between the size of the lesion and the age of the patient at the time of diagnosis (p = 0.016). The size was also associated with increased root resorption (p < 0.001), ill-defined borders (p < 0.001), expansion (p < 0.001) and perforation of the cortex (p < 0.001). Small opacities were present in 77% of lesions and were associated with expansion of the cortex (p = 0.043). The significant radiological features in patients aged 30 years and above were root resorption (p = 0.013) and lesions crossing the midline (p = 0.019). Conclusions The size of an AOT is influenced by the patient's age. It is also associated with root resorption, ill-defined borders, expansion and perforation of the cortex, but it cannot be ruled out that those changes reflect a longer duration of the lesion. PMID:22752319

  11. Complications of minimally invasive procedures of the abdomen and pelvis: a comprehensive update on the clinical and imaging features.

    PubMed

    Saddala, Prashanth; Ramanathan, Subramaniyan; Tirumani, Sree Harsha; Ojili, Vijayanadh; Nagar, Arpit M; Fasih, Najla; Sheikh, Adnan; Saboo, Sachin S

    2015-06-01

    Minimally invasive gastrointestinal, genitourinary, and gynecological procedures are widely used in the clinical practice for diagnostic and therapeutic purposes. Complications both minor and major are not uncommon with these procedures. Imaging plays an important role in the detection and optimal management of these complications. Familiarity with the clinical and imaging features of these complications by radiologists can help in their timely detection. PMID:25537821

  12. Clinical features of epilepsy at 2 referral hospitals in Northern Iran

    PubMed Central

    Yazdi, Mahdi Rezaeian; Baf, Morteza Mazloum Farsi; Afsari, Atena; Alipour, Afrouz; Khorashadizadeh, Mostafa; Ghiassi, Peyman Khajeh; Homam, Seyed Mehran

    2015-01-01

    Objective: To investigate the demographic and clinical characteristics of epilepsy in 2 referral hospitals in northern Iran. Methods: In this cross-sectional study, we evaluated 300 patients with the confirmed diagnosis of epilepsy referred to the Neurology clinics of 22-Bahman, and 17-Shahrivar Hospitals, Mashad, Iran, from April 2011 to December 2012. We collected and analyzed demographic and disease information. Results: The mean age of patients was 31.5 ± 15.3 years. The diagnosis of disease had been made approximately 10 months after the onset of symptoms, and the treatment gap was 28%. The most widely used anticonvulsants were sodium valproate, carbamazepine, and phenobarbital. Generalized seizure was seen in 78%, partial seizure in 22%, and a combination of them in 11% of patients. Tonic-colonic seizure (72%) was the most common type of generalized epilepsy, and secondarily generalized seizure was the most frequent type of partial epilepsy. Conclusion: The epidemiological features of epilepsy in our region with regard to age and gender are the same as other parts of the world. The generalized type is the most common form of epilepsy, with tonic-colonic seizures being the most frequent type in our area. PMID:26166592

  13. The clinical and morphologic features of nonepidermolytic ichthyosis in the golden retriever.

    PubMed

    Mauldin, E A; Credille, K M; Dunstan, R W; Casal, M L

    2008-03-01

    A scaling disorder specific to Golden Retriever dogs has been recognized by both dermatologists and pathologists, but to date has not been well characterized. At the University of Pennsylvania's Laboratory of Toxicology and Pathology, 46 cases of ichthyosis were diagnosed histologically in Golden Retriever dogs from January 2004 to January 2007. A total of 22 dogs had skin lesions documented at younger than 1 year of age; 3 dogs between 1 and 2 years of age; 13 dogs developed lesions at older than 2 years; and the time of onset was unknown for 8 dogs. A total of 25 dogs were female, and 21 were male. All dogs had strikingly similar histopathologic changes that consisted of mild to moderate laminar orthokeratotic hyperkeratosis with an absence of epidermal hyperplasia and dermal inflammation. Ultrastructural analysis using a ruthenium tetroxide fixation method was performed on punch biopsy samples from 5 dogs and compared with 2 control dogs (1 clinically and histologically normal sibling of an affected dog and 1 Cairn Terrier). All affected dogs had retained and convoluted membranes with crystalline structures in the stratum corneum. Scattered keratinocytes in the granular cell layer had prominent, clear, membrane-bound, cytoplasmic vacuoles. Pedigree analysis of 14 dogs was compatible with autosomal recessive inheritance, but incomplete dominance could not be ruled out. This unique hyperkeratotic/scaling disorder in Golden Retrievers has distinctive clinical, histologic, and ultrastructural features, which are consistent with a primary cornification defect. PMID:18424829

  14. Clinical and radiographic features of solitary and cemento-osseous dysplasia-associated simple bone cysts

    PubMed Central

    Chadwick, JW; Alsufyani, NA; Lam, EWN

    2011-01-01

    Objective The purpose of this study was to review the clinical and radiographic features of solitary and COD-associated SBCs. Methods Archived imaging reports from the Special Procedures Clinic in Oral and Maxillofacial Radiology at the Faculty of Dentistry at the University of Toronto between 1 January 1989 and 31 December 2009 revealed 23 COD-associated SBCs and 68 solitary SBCs. Results Almost all solitary and COD-associated SBCs were found in the mandible. Furthermore, 87.0% of COD-associated SBCs were found in females in their fifth decade of life (P < 0.001) while solitary SBCs were found in equal numbers in both sexes in their second decade of life (P < 0.005). COD-associated SBCs were also more likely to cause thinning of the endosteal cortex, bone expansion and scalloping of the superior border between teeth (all P < 0.001) than solitary SBCs that are classically described as having these characteristics. Finally, COD-associated SBC demonstrated a loss of lamina dura more often (P < 0.05) than solitary SBCs. Conclusions Knowledge of the sporadic association between COD and SBC and their potential radiographic appearances should prevent inappropriate treatment and management of these patients. PMID:21493879

  15. Clinical features and risk factors for blood stream infections of Candida in neonates

    PubMed Central

    LIU, MINGYUE; HUANG, SIYUAN; GUO, LINYING; LI, HONGRI; WANG, FEI; ZHANG, QI; SONG, GUOWEI

    2015-01-01

    Candida species are the leading cause of invasive fungal infections in children admitted to hospital. However, few data exist with regard to the clinical features, risk factors and prognosis for candidemia in neonates. The present retrospective study included 40 neonates from the Affiliated Children's Hospital of the Capital Institute of Pediatrics (Beijing, China) in the time period between January 1, 2006 and December 31, 2010 (candidemia group, n=19; non-candidemia group, n=21). The clinical characteristics, prognosis and previously identified risk factors for the two groups were recorded. According to the forward stepwise multivariate logistic regression analysis, administration of antibiotics >2 weeks prior, the use of glycopeptide antibiotics, maternal candidal vaginitis and secondary gastrointestinal surgery were identified as predictors of candidiasis. When compared with the non-gastrointestinal dysfunction group, the proportion of neonates that had been subjected to parenteral nutrition, central venous catheters, gastrointestinal surgery, secondary gastrointestinal surgery, repeated tracheal intubation and glycopeptide antibiotic administration was significantly higher in the gastrointestinal dysfunction group (P<0.05). Long-term application of antibiotics, use of glycopeptide antibiotics, maternal candidal vaginitis and secondary gastrointestinal surgery appeared to be the risk factors of candidemia in neonates. The neonates co-existed with gastrointestinal dysfunction suffering from candidemia were likely to experience growth retardation at 6 months after hospital discharge. Candidemia is potentially life-threatening situation for neonates, and if patients do not succumb it may affect their early development. PMID:26622453

  16. Early Controversies over Athetosis: I. Clinical Features, Differentiation from other Movement Disorders, Associated Conditions, and Pathology

    PubMed Central

    Lanska, Douglas J.

    2013-01-01

    Background Since the description of athetosis in 1871 by American neurologist William Alexander Hammond (1828–1900) the disorder has been a source of controversy, as were many aspects of Hammond’s career. Methods Primary sources have been used to review controversies in the 50-year period since the initial description of athetosis, in particular those concerning clinical features, differentiation from other movement disorders, associated conditions, and pathology. Controversies concerning treatment will be addressed in a subsequent article. Results Hammond struggled to establish athetosis as a distinct clinical–pathological entity, and had successfully predicted the striatal pathology in his initial case (albeit somewhat serendipitously). Athetosis was, nevertheless, considered by many neurologists to be a form of post-hemiplegic chorea or part of a continuum between chorea and dystonia. European neurologists, and particularly the French, initially ignored or discounted the concept. Additional controversies arose over whether the movements persisted during sleep, whether athetosis was, or could be, associated with imbecility or insanity, and how it should be treated. Discussion Some controversies concerning athetosis served to identify areas where knowledge was insufficient to make accurate statements, despite prior self-assured or even dogmatic statements to the contrary. Other controversies illustrated established prejudices, even if these biases were often only apparent with the greater detachment of hindsight. PMID:23450262

  17. Rabies: the clinical features, management and prevention of the classic zoonosis.

    PubMed

    Warrell, Mary J; Warrell, David A

    2015-02-01

    The diagnosis of rabies encephalitis relies on awareness of the varied clinical features and eliciting a history of unusual contact with a mammal throughout the endemic area. The diagnosis is easily missed. Laboratory tests are not routine and only confirm clinical suspicion. Rabies infection carries a case fatality exceeding 99.9%. Palliation is appropriate, except for previously-vaccinated patients or those infected by American bats, for whom intensive care is probably indicated. However, as rabies vaccines are outstandingly effective, no one should die of dog-transmitted infection. Vaccines and rabies immunoglobulin are expensive and usually scarce in Asia and Africa. All travellers to dog rabies enzootic areas should be strongly encouraged to have pre-exposure immunisation before departure. There is no contraindication to vaccination but the cost can be prohibitive. Intradermal immunisation, using 0.1 ml and sharing vials of vaccine, is cheaper and is now permitted by UK regulations. Returning travellers may need post-exposure prophylaxis. Economical intradermal post-exposure vaccination is practicable and should be introduced into rural areas of Africa and Asia immediately. Eliminating rabies in dogs is now feasible and would dramatically reduce human mortality, if funds were made available. The high current economic burden of human prophylaxis would then be largely relieved. PMID:25650205

  18. Factor V Deficiency in Korean Patients: Clinical and Laboratory Features, Treatment, and Outcome

    PubMed Central

    2016-01-01

    Due to rarity of factor V (FV) deficiency, there have been only a few case reports in Korea. We retrospectively analysed the clinical-laboratory features of FV deficiency in 10 Korean patients. Between January 1987 and December 2013, 10 case reports published in a Korean journal or proceedings of Korea Society on Thrombosis and Hemostasis were reviewed. Severity is defined as mild (> 5% of factor activity), moderate (1%–5%), and severe (< 1%). The median age at diagnosis, six males and four females, was 26 years (range, 1 month-73 years). Six of 10 patients were classified as moderate, three as mild, and one as severe disease. Eight patients were diagnosed as inherited FV deficiency. The most frequent symptoms were mucosal tract bleedings (40%) such as epistaxis, and menorrhagia in female. Hemarthroses and postoperative bleeding occurred in one and four patients, respectively. Life-threatening bleeding episodes occurred in the peritoneal cavity (n = 2), central nerve system (n = 1), and retroperitoneal space (n = 1). No lethal haemorrhages happened to patients with mild disease. The majority of bleeding episodes were controlled with local measures and fresh-frozen plasma replacement. Two acquired FV deficient-patients showing life-threatening haemorrhages received the immunosuppressive therapy, but one of them died from postoperative bleeding complications. Despite the small sample size of this study due to rarity of the disease, we found that Korean patients with FV deficiency had similar clinical manifestations and treatment outcomes shown in previous studies. PMID:26839474

  19. Strongyloidiasis: prevalence, risk factors, clinical and laboratory features among diarrhea patients in Ibadan Nigeria.

    PubMed

    Dada-Adegbola, H O; Oluwatoba, O A; Bakare, R A

    2010-12-01

    Strongyloidiasis is a parasitic infection caused by Strongyloides stercoralis. The infection is usually mild or asymptomatic in normal immunocompetent individuals, but could be very severe or even fatal due to hyper infection in individuals who are immunosuppressed. This study aimed at determining the prevalence, risk factors and features of strongyloidiasis among diarrhea patients in Ibadan. This is a descriptive cross-sectional study of diarrhea patients from a teaching hospital, three major government hospitals and one mission hospital in Ibadan. Self administered questionnaire, clinical assessment and laboratory investigations were used to confirm health status and presence of S. stercoralis. Diagnosis was made by microscopic examination of stool in saline preparation and formol-ether concentration. One thousand and ninety patients, (562 (51.6%) males and 528 (48.4%) females) consisting 380 (34.9%) children and 710 (65.1%) adults who had diarrhea were studied. The prevalence rate for the parasite among diarrhea patients was 3.0%. While the risk factor for infection remains contact with contaminated soil, malnutrition, steroid therapy, HIV/AIDS, lymphomas, tuberculosis, and chronic renal failure. Others are maleness, institutionalism and alcoholism. Predominant clinical presentations are abdominal pain, chronic diarrhea, and bloating and weight loss, Strongyloides stercoralis should be considered in diarrhea patients who are either malnourished or immunosuppressed. PMID:21735994

  20. Morphologic Features and Clinical Impact of Arteritis Concurrent with Transplant Glomerulopathy.

    PubMed

    Dobi, Deján; Bodó, Zsolt; Kemény, Éva; Boda, Krisztina; Szenohradszky, Pál; Szederkényi, Edit; Laszik, Zoltan G; Iványi, Béla

    2016-01-01

    Little is known about the morphology and clinical relevance of arteritis in renal allograft biopsies with transplant glomerulopathy. We retrospectively reviewed the morphologic findings and clinical course of 59 patients with cg, 16 of which featured concurrent arteritis (fibrosing intimal arteritis with luminal narrowing in 15, and acute intimal arteritis in 1 case). Fifteen out of the 16 cases with arteritis fulfilled the morphological diagnostic criteria for chronic active antibody-mediated rejection, and 11 cases with arteritis showed morphological evidence of concurrent, ongoing T-cell-mediated alloimmune response (acute T-cell-mediated rejection in 5, borderline changes in 6 cases). Further, the Banff grades of interstitial inflammation in scarred and nonscarred cortex, total cortical inflammation, and arterial luminal narrowing were significantly higher in biopsies with arteritis. By immunohistochemistry, T-lymphocyte predominance over macrophages was found in the intimal infiltrates in 14 out of 16 cases, and cytotoxic T-lymphocytes were identified among intimal mononuclears in 10 cases. Patients with arteritis demonstrated a significantly shorter renal survival (7.5 vs. 29 months). In conclusion, T-cell-mediated mechanisms could play a role in the development of arteritis concurrent with cg. However, this finding does not exclude the possibility that antibody-mediated rejection can also contribute to the evolution of the lesion. Importantly, the lesion carries negative prognostic value likely via severe arterial luminal narrowing. PMID:26202171

  1. Lyme disease in the U.K.: clinical and laboratory features and response to treatment.

    PubMed

    Dillon, Richard; O'Connell, Susan; Wright, Stephen

    2010-10-01

    Lyme disease is rare in the U.K. but there is evidence of an increase in both prevalence of, and patient concern about, the infection. There are no published data characterising Lyme disease as it is seen in the U.K. The clinical and laboratory features of 65 patients diagnosed with the disease between 2002 and 2007 were recorded and their clinical presentation and response to treatment documented. In total, 34% of patients acquired the infection in the UK, 20% in North America and 46% in Europe. Exposure to ticks was reported by 58% of patients. Erythema migrans was seen in 91%, systemic upset in 62%, headaches in 31%, arthralgia or arthritis in 28%, radiculitis in 11% and cranial nerve palsies in 4.6%. Screening enzyme immunoassay tests were negative in 39% and reference laboratory immunoblots were negative in 31% of patients, principally those with early infection. The majority of patients were cured with one course of antibiotic treatment, three patients had evidence of persistent infection after treatment and two required intravenous therapy. No cases of chronic Lyme disease were seen. PMID:21117376

  2. CLINICAL FEATURES, CURRENT TREATMENTS AND OUTCOME OF PREGNANT WOMEN WITH PREECLAMPSAIA/ECLAMPSIA IN NORTHERN AFGHANISTAN

    PubMed Central

    AHADI, SAYED SHIR MOHAMMAD; YOSHIDA, YOSHITOKU; RABI, MIRWAIS; SARKER, MOHAMMAD ABUL BASHAR; REYER, JOSHUA A.; HAMAJIMA, NOBUYUKI

    2015-01-01

    ABSTRACT In Afghanistan, preeclampsia/eclampsia is the second leading cause of maternal deaths following maternal hemorrhage. This study aimed to describe clinical features, current treatments, and outcome among preeclampsia and eclampsia patients in the north region of Afghanistan. This was a retrospective study based on medical records of four center hospitals (one regional hospital and three provincial hospitals) in the north region of Afghanistan. Subjects were 322 patients with preeclampsia/eclampsia, admitted from March 2012 to March 2013. Out of 322 cases, 72.7% were diagnosed as preeclampsia and the rest as eclampsia. Those aged 30–39 years were 41.0% among preeclampsia patients and 29 years and younger were 35.2% among eclampsia patients (p= 0.002). The first delivery was significantly higher (p=0.045) among eclampsia patients (51.1%) than among preeclampsia patients (36.8%). While none died among the preeclampsia patients, 12 out of 88 eclampsia patients died in the hospitals. The causes of the 12 deaths were pulmonary edema (6 patients), renal failure (3 patients), cerebrovascular attack (2 patients), and hemorrhage (1 patient). There were no clinical findings at admission significantly associated with the deaths within the eclampsia patient group. Although the sample size was not large enough, patients admitted to the regional/provincial hospitals at the stage of preeclampsia had a low risk of death. Access at the stage of preeclampsia and improvement in treatments for eclampsia would reduce maternal mortality in Afghanistan. PMID:25797975

  3. Gorham-Stout disease: radiological, histological, and clinical features of 12 cases and review of literature.

    PubMed

    Liu, Yi; Zhong, Ding-Rong; Zhou, Pei-Ran; Lv, Fang; Ma, Dou-Dou; Xia, Wei-Bo; Jiang, Yan; Wang, Ou; Xing, Xiao-Ping; Li, Mei

    2016-03-01

    Gorham-Stout disease (GSD) is an exceedingly rare disease characterized by progressive osteolysis and angiomatosis. We investigate the features of this disease and evaluate the effects of bisphosphonates (BPs) on it. The clinical, radiological, and pathological characteristics of 12 patients diagnosed with GSD were summarized. Immunohistochemical staining with specific lymphatic endothelial markers (D2-40), vascular markers (CD 31, CD 34), and vascular endothelial growth factor (VEGF) and vascular endothelial growth factor receptor 3 (VEGFR-3) was performed in specimens of bone biopsy. Patients were treated with either BPs or conjunction therapy of radiation and BPs. The effects of BPs were evaluated by the change of radiological progression, bone mineral density (BMD) and bone turnover biomarkers. To further evaluate the prognosis, a literature review was done. Idiopathic massive osteolysis was found in all patients, including 11 polyostotic and one mono-ostotic osteolysis. Soft tissue lymphangioma was presented in four patents. Four patients were complicated with chylothorax. Endothelial cells lining the proliferative vessels were positive for CD31 and CD34 and D2-40. Mild expression of VEGF and VEGFR-3 was also revealed. Stabilization in osteolysis and improvement in BMD were observed after single therapy with BPs or combined with radiotherapy. High mortality rate was found in patients with chylothorax. Spontaneous, progressive osteolysis is the most typical sign of GSD. BPs and radiotherapy can contribute to the clinical stabilization in bone lesion of GSD. The complicated chylothorax possibly indicates poor prognosis. PMID:25227772

  4. Hypopigmented mycosis fungoides: a review of its clinical features and pathophysiology*

    PubMed Central

    Furlan, Fabricio Cecanho; Sanches, José Antonio

    2013-01-01

    Several distinct clinical forms of mycosis fungoides have been described. Hypopigmented mycosis fungoides should be regarded as a subtype of mycosis fungoides, insofar as it presents some peculiar characteristics that contrast with the clinical features of the classical form. Most patients with hypopigmented mycosis fungoides are younger than patients typically diagnosed with classical mycosis fungoides. In addition to typical dark-skinned individuals impairment, hypopigmented mycosis fungoides has also been described in Asian patients. The prognosis for hypopigmented mycosis fungoides is much better than for classical mycosis fungoides: hypopigmented mycosis fungoides is diagnosed when there are only patches of affected skin, and lesions usually will not progress beyond terminal stages, although they can persist for many years. Diagnosis should involve clinicopathologic correlation: skin biopsy analysis often reveals intense epidermotropism, characterized by haloed, large, and atypical CD8+ lymphocytes with convoluted nuclei, in contrast to mild to moderate dermal lymphocytic infiltrate. These CD8+ cells, which participate in T helper 1-mediated immune responses, prevent evolution to mycosis fungoides plaques and tumors and could be considered the main cause of the inhibition of melanogenesis. Therefore, hypopigmentation could be considered a marker of good prognosis for mycosis fungoides. PMID:24474105

  5. Phenotypic Delineation of Emanuel Syndrome (Supernumerary Derivative 22 syndrome): Clinical features of 63 individuals

    PubMed Central

    Carter, Melissa T; Pierre, Stephanie A St.; Zackai, Elaine H; Emanuel, Beverly S; Boycott, Kym M

    2009-01-01

    Emanuel syndrome is characterized by multiple congenital anomalies and developmental disability. It is caused by the presence of a supernumerary derivative chromosome that contains material from chromosomes 11 and 22. The origin of this imbalance is 3:1 malsegregation of a parental balanced translocation between chromosomes 11 and 22, which is the most common recurrent reciprocal translocation in humans. Little has been published on the clinical features of this syndrome since the 1980s and information on natural history is limited. We designed a questionnaire to collect information from families recruited through an international online support group, Chromosome 22 Central. Data gathered include information on congenital anomalies, medical and surgical history, developmental and behavioural issues, and current abilities. We received information on 63 individuals with Emanuel syndrome, ranging in age from newborn to adulthood. As previously recognized, congenital anomalies were common, the most frequent being ear pits (76%), micrognathia (60%), heart malformations (57%), and cleft palate (54%). Our data suggest that vision and hearing impairment, seizures, failure to thrive and recurrent infections, particularly otitis media, are common in this syndrome. Psychomotor development is uniformly delayed, however the majority of individuals (over 70%) eventually learn to walk with support. Language development and ability for self-care are also very impaired. This study provides new information on the clinical spectrum and natural history of Emanuel syndrome for families and physicians caring for these individuals. PMID:19606488

  6. Refractory anemia with severe dysplasia: clinical significance of morphological features in refractory anemia.

    PubMed

    Matsuda, A; Jinnai, I; Yagasaki, F; Kusumoto, S; Minamihisamatsu, M; Honda, S; Murohashi, I; Bessho, M; Hirashima, K

    1998-04-01

    Refractory anemia (RA) in myelodysplastic syndromes (MDS) are very heterogeneous diseases regarding their morphology, clinical features and survival. We proposed the new designations 'RA with severe dysplasia (RASD)' and 'RA with minimal dysplasia (RAminiD)'. In our criteria, RASD is considered present if a bone marrow (BM) examination shows Pseudo-Pelger-Huet anomalies of mature neutrophils > or =3% and/or micromegakaryocytes (mMgk) of megakaryocytes > or =10% in RA patients. RAminiD is defined as RA cases other than RASD. After the reclassification of 58 primary RA patients, the group was composed of 45 RAminiD and 13 RASD patients. The blast percentage in the BM and the frequency of cytogenetic abnormalities observed in the RASD patients were intermediate between those in the RAminiD and RAEB patients. The analysis of survival curves revealed differences among the three groups; the RASD patients had lower survival probabilities than those of the RAminiD group, and significantly higher probabilities than those of the RAEB group. (RAminiD vs RASD, P=0.06; RASD vs RAEB, P=0.004.) Our data indicate that in RA patients, RASD is a distinct subset of RA with an unfavorable clinical outcome. PMID:9557604

  7. Cat favus caused by Microsporum incurvatum comb. nov.: the clinical and histopathological features and molecular phylogeny.

    PubMed

    Sun, Pei-Lun; Mu, Chao-An; Fan, Chi-Chen; Fan, Yun-Chen; Hu, Jer-Ming; Ju, Yu-Ming

    2014-04-01

    Favus is a distinctive form of infection that is caused by exclusively dermatophytes. Its clinical presentation is characterized by scutula, which are concave, thick fungal crusts. The best-known examples of human scalp favus are caused by Trichophyton schoenleinii and those of mouse favus are caused by T. quinckeanum. However, other dermatophytes, such as T. violaceum, T. verrucosum, Microsporum audouinii, M. gallinae, M. gypseum, and M. canis, have been reported sporadically to cause favic lesions. Favus on cats has rarely been mentioned in the literature, and the pathogens with which it has been associated are, for the most part, unknown. Here, we examine four cat favus cases, focusing on clinical presentations and histopathological features. In all cases the etiologic agent was identified as M. incurvatum based on its morphological characteristics and sequences of internal transcribed spacers (ITS) of nuclear ribosomal DNA. Phylogenetic analysis using the neighbor-joining method, which is based on ITS, showed that these four isolates belonged to two strains of M. incurvatum; one strain was a new combination from the basionym Nannizzia incurvata. PMID:24625676

  8. MFN2-related neuropathies: Clinical features, molecular pathogenesis and therapeutic perspectives.

    PubMed

    Stuppia, Giulia; Rizzo, Federica; Riboldi, Giulietta; Del Bo, Roberto; Nizzardo, Monica; Simone, Chiara; Comi, Giacomo P; Bresolin, Nereo; Corti, Stefania

    2015-09-15

    Mitofusin 2 (MFN2) is a GTPase dynamin-like protein of the outer mitochondrial membrane, encoded in the nuclear genome by the MFN2 gene located on the short (p) arm of chromosome 1. MFN2 protein is involved in several intracellular pathways, but is mainly involved in a network that has an essential role in several mitochondrial functions, including fusion, axonal transport, interorganellar communication and mitophagy. Mutations in the gene encoding MFN2 are associated with Charcot-Marie-Tooth disease type 2A (CMT2A), a neurological disorder characterized by a wide clinical phenotype that involves the central and peripheral nervous system. Here, we present the clinical, genetic and neuropathological features of human diseases associated with MFN2 mutations. We also report proposed pathogenic mechanisms through which MFN2 mutations likely contribute to the development of neurodegeneration. MFN2-related disorders may occur more frequently than previously considered, and they may represent a paradigm for the study of the defective mitochondrial dynamics that seem to play a significant role in the molecular and cellular pathogenesis of common neurodegenerative diseases; thus they may also lead to the identification of related therapeutic targets. PMID:26143526

  9. The prognostic value of clinical and pathologic features in nonmetastatic operable male breast cancer

    PubMed Central

    Sun, Bo; Zhang, Li-Na; Zhang, Jun; Zhang, Ning; Gu, Lin

    2016-01-01

    Compared with female breast cancer, male breast cancer is a rare disease, and the relationship between clinical/pathologic features and prognosis is controversial, or even largely unknown. In this study, we performed a retrospective analysis using clinical and pathologic data from 109 nonmetastatic operable male breast cancer patients treated from January 1996 to December 2011 at Tianjin Medical University Cancer Institute and Hospital. Log-rank test showed that lower tumor stage, no lymph node involvement, and positive estrogen/progesterone receptor status were good predictors of both disease-free survival and overall survival on univariate analysis. However, hormonotherapy is only a good predictive factor of disease-free survival, and not of overall survival. In addition, based on a Cox proportional hazard regression model, only lymph node involvement, and estrogen/progesterone receptor status were statistically significant predictive factors on multivariate analysis. Our results demonstrated that although adjuvant systemic therapy is used extensively in male breast cancer patients and prognosis has improved over the last few decades, lymph node involvement, and estrogen/progesterone receptor status are still the most important prognostic factors. A prospective multi-center study with a larger sample size is urgently needed to further understand male breast cancer. PMID:25994649

  10. Clinical features of delirious mania: a series of five cases and a brief literature review

    PubMed Central

    2012-01-01

    Background Little is known about the cause and psychopathology of delirious mania, a type of disorder where delirium and mania occur at the same time. This condition still has no formal diagnostic classification. To provide more information about this potentially life-threatening condition, we studied five patients with delirious mania. Methods We describe the cases of five patients with delirious mania admitted to an acute inpatient psychiatric unit between January 2005 and January 2007, and discuss the cases in the context of a selective review of the clinical literature describing the clinical features and treatment of delirious mania. Results Two patients had two episodes of delirious mania. Delirium usually resolved faster than mania though not always the case. Delirious mania remitted within seven sessions of the electroconvulsive therapy (ECT). Conclusions Delirious mania is a potentially life-threatening but under-recognized neuropsychiatric syndrome. Delirious mania that is ineffectively treated may induce a new-onset manic episode or worsen an ongoing manic episode, and the patient will need prolonged hospitalization. Delirious mania also has a close relationship with catatonia. Early recognition and aggressive treatment, especially with electroconvulsive therapy, can significantly reduce morbidity and mortality. PMID:22716018

  11. Pathophysiology, clinical features and radiological findings of differentiation syndrome/all-trans-retinoic acid syndrome.

    PubMed

    Cardinale, Luciano; Asteggiano, Francesco; Moretti, Federica; Torre, Federico; Ulisciani, Stefano; Fava, Carmen; Rege-Cambrin, Giovanna

    2014-08-28

    In acute promyelocytic leukemia, differentiation therapy based on all-trans-retinoic acid can be complicated by the development of a differentiation syndrome (DS). DS is a life-threatening complication, characterized by respiratory distress, unexplained fever, weight gain, interstitial lung infiltrates, pleural or pericardial effusions, hypotension and acute renal failure. The diagnosis of DS is made on clinical grounds and has proven to be difficult, because none of the symptoms is pathognomonic for the syndrome without any definitive diagnostic criteria. As DS can have subtle signs and symptoms at presentation but progress rapidly, end-stage DS clinical picture resembles the acute respiratory distress syndrome with extremely poor prognosis; so it is of absolute importance to be conscious of these complications and initiate therapy as soon as it was suspected. The radiologic appearance resembles the typical features of cardiogenic pulmonary edema. Diagnosis of DS remains a great skill for radiologists and haematologist but it is of an utmost importance the cooperation in suspect DS, detect the early signs of DS, examine the patients' behaviour and rapidly detect the complications. PMID:25170395

  12. Prevalence, clinical features and quantification of genital non-viral infections.

    PubMed

    Carne, C A; Gibbs, J; Delaney, A; Sonnex, C; Verlander, N Q; Smielewska, A; Skeggs, E; Bentley, N; Jalal, H

    2013-04-01

    We conducted a study of the prevalence, clinical features and microscopy findings, by retrospective case-notes survey, of six non-viral organisms, among 1718 attendees at a genitourinary (GU) medicine clinic in England. An in-house assay for six non-viral infections was used and quantitation of ureaplasmas performed. The prevalences of the six organisms were: Chlamydia trachomatis (CT), 7.1%; Neisseria gonorrhoeae (NG), 0.6%; Mycoplasma genitalium (MG), 1.0%; Trichomonas vaginalis, 0.2%; Ureaplasma urealyticum, 16.1%; Ureaplasma parvum, 35.6%. Among men (but not women) there were significantly raised odds ratios compared with that for U. parvum, for the symptom of discharge with CT, 7.30; MG, 6.43; NG 19.29; dysuria with CT, 5.89 and MG, 5.95; and the microscopy finding of >4 pus cells per high power field with: CT, 7.22; MG, 4.58 and NG 22.31. Evaluation of a possible link between quantitation of U. urealyticum and urethritis did not confirm research findings elsewhere. PMID:23970658

  13. The clinical features and outcomes of systemic AL amyloidosis: a cohort of 231 Chinese patients

    PubMed Central

    Huang, Xianghua; Wang, Qingwen; Jiang, Song; Chen, Wencui; Zeng, Caihong; Liu, Zhihong

    2015-01-01

    Background Few data are available on the clinical features and outcomes of Chinese patients with systemic immunoglobulin light-chain (AL) amyloidosis. The aim of this study is to reveal the clinical picture and risk factors of disease progression in a large cohort of Chinese patients with AL amyloidosis. Methods Patients in the Jinling Hospital amyloidosis registry from 2003 to 2011 were studied. The clinical and laboratory information were collected from first presentation to death or until the last available clinical follow-up. The patients' survival and renal outcomes were analyzed, and the relationships between the clinical parameters and survival were also assessed. Results A total of 231 patients were enrolled in this study, all the patients studied had renal involvement. One hundred and fifty-three (66.2%) were male, and the median age at diagnosis was 56 years. A total of 198 (85.7%) cases had light-chain ?-type. One hundred and forty-seven (63.6%) cases presented as nephrotic syndrome (NS), and 25% of patients had renal insufficiency at diagnosis. Liver involvement and NS appeared to be more common in patients of ?-type amyloidosis, and renal impairment is more severe in ?-type amyloidosis. The median survival time of all patients was 36.3 months, and the 1-, 2-, 3- and 5-year cumulative survival rates were 67, 53, 48 and 35%, respectively. Multivariate COX analysis showed that age, hepatic involvement and heart involvement can significantly influence survival in these patients. The median time that patients remained dialysis free was 50 months. The percentage of patients that remained dialysis free at 1, 2, 3 and 5 years were 78, 69, 62 and 37%, respectively. Multivariate COX analysis showed that serum creatinine and hypotension were the important risk factors of renal failure. Conclusion ?-Type is the most dominant type of AL amyloidosis in Chinese patients. The survival of patients with AL amyloidosis is poor. The risk factors included heart and hepatic involvement, hypotension and impairment of renal function. The high serum creatinine level and hypotension at diagnosis are associated with poor renal outcome. PMID:25713722

  14. Genetic and Clinical Features of Multiple Endocrine Neoplasia Types 1 and 2

    PubMed Central

    Romei, C.; Pardi, E.; Cetani, F.; Elisei, R.

    2012-01-01

    Multiple endocrine neoplasia (MEN) are clinical inherited syndromes affecting different endocrine glands. Three different patterns of MEN syndromes can occur (MEN 1, MEN 2A, and MEN 2B). MEN syndromes are very rare, affect all ages and both sexes are equally affected. MEN 1 is characterized by the neoplastic transformation of the parathyroid glands, pancreatic islets, anterior pituitary, and gastrointestinal tract. Heterozygous MEN 1 germline mutations have been detected in about 70–80% of patients with MEN 1. The mutations are scattered throughout the entire genomic sequence of the gene. MEN 1 patients are characterized by variable clinical features, thus suggesting the lack of a genotype-phenotype correlation. Therapeutical approaches are different according to the different endocrinopathies. The prognosis is generally good if adequate treatment is provided. In MEN 2 syndromes, the medullary thyroid cancer (MTC) is almost invariably present and can be associated with pheochromocytoma (PHEO) and/or multiple adenomatosis of parathyroid glands with hyperparathyroidism (PHPT). The different combination of the endocrine neoplasia gives origin to 3 syndromes: MEN 2A, MEN 2B, and FMTC. The clinical course of MTC varies considerably in the three syndromes. It is very aggressive in MEN 2B, almost indolent in the majority of patients with FMTC and with variable degrees of aggressiveness in patients with MEN 2A. Activating germline point mutations of the RET protooncogene are present in 98% of MEN 2 families. A strong genotype-phenotype correlation has been observed and a specific RET mutation may be responsible for a more or less aggressive clinical course. The treatment of choice for primary MTC is total thyroidectomy with central neck lymph nodes dissection. Nevertheless, 30% of MTC patients, especially in MEN 2B and 2A, are not cured by surgery. Recently, developed molecular therapeutics that target the RET pathway have shown very promising activity in clinical trials of patients with advanced MTC. MEN 2 prognosis is strictly dependent on the MTC aggressiveness and thus on the success of the initial treatment. PMID:23209466

  15. Clinical features of childhood granulomatosis with polyangiitis (wegener’s granulomatosis)

    PubMed Central

    2014-01-01

    Background Granulomatosis with polyangiitis (GPA), formerly known as Wegener’s granulomatosis (WG), belongs to the group of ANCA-associated necrotizing vasculitides. This study describes the clinical picture of the disease in a large cohort of GPA paediatric patients. Children with age at diagnosis???18 years, fulfilling the EULAR/PRINTO/PRES GPA/WG classification criteria were extracted from the PRINTO vasculitis database. The clinical signs/symptoms and laboratory features were analysed before or at the time of diagnosis and at least 3 months thereafter and compared with other paediatric and adult case series (>50 patients) derived from the literature. Findings The 56 children with GPA/WG were predominantly females (68%) and Caucasians (82%) with a median age at disease onset of 11.7 years, and a median delay in diagnosis of 4.2 months. The most frequent organ systems involved before/at the time of diagnosis were ears, nose, throat (91%), constitutional (malaise, fever, weight loss) (89%), respiratory (79%), mucosa and skin (64%), musculoskeletal (59%), and eye (35%), 67% were ANCA-PR3 positive, while haematuria/proteinuria was present in?>?50% of the children. In adult series, the frequency of female involvement ranged from 29% to 50% with lower frequencies of constitutional (fever, weight loss), ears, nose, throat (oral/nasal ulceration, otitis/aural discharge), respiratory (tracheal/endobronchial stenosis/obstruction), laboratory involvement and higher frequency of conductive hearing loss than in this paediatric series. Conclusions Paediatric patients compared to adults with GPA/WG have similar pattern of clinical manifestations but different frequencies of organ involvement. PMID:24891844

  16. Synchronous second primary cancers in patients with squamous esophageal cancer: clinical features and survival outcome

    PubMed Central

    Lee, Jin Seo; Ahn, Ji Yong; Choi, Kee Don; Song, Ho June; Kim, Yong Hee; Lee, Gin Hyug; Jung, Hwoon-Yong; Ryu, Jin-Sook; Kim, Sung-Bae; Kim, Jong Hoon; Park, Seung-Il; Cho, Kyung-Ja; Kim, Jin-Ho

    2016-01-01

    Background/Aims: Unexpected diagnosis of synchronous second primary cancers (SPC) complicates physicians’ decision-making because clinical details of squamous esophageal cancer (EC) patients with SPC have been limited. We evaluated clinical features and treatment outcomes of patients with synchronous SPC detected during the initial staging of squamous EC. Methods: We identified a total of 317 consecutive patients diagnosed with squamous EC. Relevant clinical and cancer-specific information were reviewed retrospectively. Results: EC patients with synchronous SPC were identified in 21 patients (6.6%). There were significant differences in median age (70 years vs. 63 years, p = 0.01), serum albumin level (3.3 g/dL vs. 3.9 g/dL, p < 0.01) and body mass index (20.4 kg/m2 vs. 22.8 kg/m2, p = 0.01) between EC patients with and without SPC. Head and neck, lung and gastric cancers accounted for 18.2%, 22.7%, and 18.2% of SPC, respectively. Positron emission tomography-computed tomography (PET-CT) detected four cases (18.2%) of SPC that were missed on CT. Management plans were altered in 13 of 21 patients (61.9%) with detected SPC. Curative esophagectomy was attempted in 28.6% of EC patients with SPC (vs. 59.1% of patients without SPC; p = 0.006). EC patients with SPC had significantly lower 5-year survival than patients without SPC (10.6% vs. 36.7%, p = 0.008). Conclusions: Synchronous SPC were found in 6.6% of squamous EC patients, and PET-CT contributed substantially to the detection of synchronous SPC. EC patients with SPC had poor survival due to challenges of providing stage-appropriate treatment. PMID:26864297

  17. Clinical features of malignant melanoma of the finger and therapeutic efficacies of different treatments

    PubMed Central

    Yang, Zuozhang; Xie, Lin; Huang, Yunchao; Sun, Hongpu; Yuan, Tao; Ma, Xiang; Jing, Congguo; Liu, Pengjie

    2011-01-01

    The purpose of this study was to explore the clinical features of malignant melanoma of the finger and therapeutic efficacies of different treatments. The clinical data of 22 patients with malignant melanoma of the finger (confirmed by pathological examination), admitted and treated in our hospital between February 1995 and October 2007, were analyzed retrospectively. The primary site of the tumor was the thumb in 12 cases, index finger in 3 cases, middle finger in 3 cases, ring finger in 2 cases and little finger in 2 cases. The most common presenting symptoms were pain and black patches on the fingers. A total of 15 of the 22 patients had subungual disease, 12 had a history of trauma and 2 had osteolytic bone lesions of the phalanx. The main treatments employed were surgery, chemotherapy and immunotherapy. Finger amputation was performed for all 22 patients and axillary lymph node dissection in the same side was performed for 13 patients. Nineteen cases were followed up for 1-10 years with an average of 5.5 years. Three patients were lost to follow-up 2 years after treatment. The 1-, 3- and 5-year survival rates were 86.4% (19/22), 42.1% (12/19) and 31.2% (6/19), respectively. In conclusion, malignant melanoma of the finger is a rarely occurring tumor. Comprehensive treatment, including surgery, chemotherapy and immunotherapy, is the key approach for malignant melanoma of the finger. Prognosis of the disease is associated with the size of the tumor, depth of infiltration and clinical stages. PMID:22866132

  18. Clinical Features of Severe Wasp Sting Patients with Dominantly Toxic Reaction: Analysis of 1091 Cases

    PubMed Central

    Ding, Fengfei; Xie, Minjie; Lv, Jiagao; Yao, Jihua; Pan, Dengji; Sun, Qian; Liu, Chenchen; Chen, Tie; Li, Shusheng; Wang, Wei

    2013-01-01

    Background Massive wasp stings have been greatly underestimated and have not been systematically studied. The aim of this study was to identify the clinical features and treatment strategies of severe wasp stings. Methods and Findings A multicenter retrospective study was undertaken in 35 hospitals and medical centers including 12 tertiary care hospitals and 23 secondary care hospitals in the Hubei Province, China. The detailed clinical data of 1091 hospitalized wasp sting patients were investigated. Over three-fourths (76.9%) of the cases had 10 or more stings and the in-hospital mortality of patients was 5.1%. Forty-eight patients died of organ injury following toxic reactions to the stings, whereas six died from anaphylactic shock. The in-hospital mortality in patients with >10 stings was higher than that of ≤10 stings (5.2% vs. 1.0%, p = 0.02). Acute kidney injury (AKI) was seen in 21.0% patients and most patients required blood purification therapy. Rhabdomyolysis was seen in 24.1% patients, hemolysis in 19.2% patients, liver injury in 30.1% patients, and coagulopathy in 22.5% patients. Regression analysis revealed that high creatinine level, shock, oliguria, and anemia were risk factors for death. Blood purification therapy was beneficial for patients with ≥20 stings and delayed hospital admission of patients (≥4 hours after sting). Conclusions In China, most patients with multiple wasp stings presented with toxic reactions and multiple organ dysfunction caused by the venom rather than an anaphylactic reaction. AKI is the prominent clinical manifestation of wasp stings with toxic reaction. High creatinine levels, shock, oliguria, and anemia were risk factors for death. PMID:24391743

  19. The Clinical Features and Pathophysiology of Acute Radiation Dermatitis in Patients Receiving Tomotherapy

    PubMed Central

    Lee, Ji Hyun; Kay, Chul Seung; Maeng, Lee So; Oh, Se Jeong; Lee, An Hi; Lee, Jeong Deuk; Han, Chi Wha

    2009-01-01

    Background Radiation therapy (RT) including tomotherapy has been widely used to treat primary tumors, as well as to alleviate the symptoms of metastatic cancers. Objective The primary purpose of this study was to examine the characteristics of the clinical features and pathophysiological mechanisms associated with acute radiation dermatitis in cancer patients that received tomotherapy, and compare the results to patients treated by conventional radiation therapy. Methods The study population consisted of 11 patients that were referred to the dermatology department because of radiation dermatitis after receiving tomotherapy; all patients were evaluated for clinical severity. The patients were assessed and identified using the National Cancer Institute Common Toxicity Criteria version (CTC) 3.0. We performed biopsies of the skin lesions that were examined for apoptosis using the terminal deoxynucleotidyl transferase-mediated deoxyuridine triphosphate nick end-labelling (TUNEL) assay and stained immunohistochemically with monoclonal antibodies to CD8, CD4 and TGF-?. As a positive control, patients with radiation dermatitis treated with conventional radiation therapy were also studied. Results The results of the clinical features of the skin of tomotherapy patients were the following: grade 1 (36%), grade 2 (55%) and other changes (9%). Among the population that had skin lesions due to acute radiation dermatitis, the mean number of positive cells per high power field (HPF) was the following: there were 30.50±7.50 TUNEL-positive cells, 34.60±12.50 CD8+ T cells, 5.19±3.17 CD4+ T cells and 9.95±1.33 TGF-? positive cells measured per HPF. The mean number of positive cells per HPF for the patients that received conventional radiation therapy was: TUNLEL-positive cells in 7.5±1.64, CD8-, CD4- and TGF-?-positive cells in 12.50±3.73, 3.16±1.47, 6.50±1.97. Conclusion We found that the number of TUNEL-positive cells and CD8+ T cells were higher in the lesions of patients receiving tomotherapy compared to the lesions of the patients receiving conventional radiation therapy. These findings suggest that tomotherapy without dose modification may cause significantly more severe forms of radiation dermatitis by apoptosis and cytotoxic immune responses than conventional radiation therapy. PMID:20523824

  20. Infarctions in the vascular territory of the posterior cerebral artery: clinical features in 232 patients

    PubMed Central

    2011-01-01

    Background Ischemic stroke caused by infarction in the territory of the posterior cerebral artery (PCA) has not been studied as extensively as infarctions in other vascular territories. This single centre, retrospective clinical study was conducted a) to describe salient characteristics of stroke patients with PCA infarction, b) to compare data of these patients with those with ischaemic stroke due to middle cerebral artery (MCA) and anterior cerebral artery (ACA) infarctions, and c) to identify predictors of PCA stroke. Findings A total of 232 patients with PCA stroke were included in the "Sagrat Cor Hospital of Barcelona Stroke Registry" during a period of 19 years (1986-2004). Data from stroke patients are entered in the stroke registry following a standardized protocol with 161 items regarding demographics, risk factors, clinical features, laboratory and neuroimaging data, complications and outcome. The characteristics of these 232 patients with PCA stroke were compared with those of the 1355 patients with MCA infarctions and 51 patients with ACA infarctions included in the registry. Infarctions of the PCA accounted for 6.8% of all cases of stroke (n = 3808) and 9.6% of cerebral infarctions (n = 2704). Lacunar infarction was the most frequent stroke subtype (34.5%) followed by atherothrombotic infarction (29.3%) and cardioembolic infarction (21.6%). In-hospital mortality was 3.9% (n = 9). Forty-five patients (19.4%) were symptom-free at hospital discharge. Hemianopia (odds ratio [OR] = 6.43), lacunar stroke subtype (OR = 2.18), symptom-free at discharge (OR = 1.92), limb weakness (OR = 0.10), speech disorders (OR = 0.33) and cardioembolism (OR = 0.65) were independent variables of PCA stroke in comparison with MCA infarction, whereas sensory deficit (OR = 2.36), limb weakness (OR = 0.11) and cardioembolism as stroke mechanism (OR = 0.43) were independent variables associated with PCA stroke in comparison with ACA infarction. Conclusions Lacunar stroke is the main subtype of infarction occurring in the PCA territory. Several clinical features are more frequent in stroke patients with PCA infarction than in patients with ischaemic stroke due to infarction in the MCA and ACA territories. In-hospital mortality in patients with PCA territory is low. PMID:21899750

  1. Clinical Features and Outcomes in Patients With Membranous Nephropathy and Crescent Formation.

    PubMed

    Wang, Jia; Zhu, Ping; Cui, Zhao; Qu, Zhen; Zhang, Yi-Miao; Wang, Fang; Wang, Xin; Wang, Jin-Wei; Zhu, Sai-Nan; Liu, Gang; Zhou, Fu-de; Zhao, Ming-Hui

    2015-12-01

    Cases of membranous nephropathy (MN) with crescent formation, in the absence of lupus, hepatitis B virus infection, anti-glomerular basement membrane (GBM) nephritis, or antineutrophil cytoplasmic antibody (ANCA), are on record. Clinical presentation and treatment outcomes in these patients are unclear.All patients with biopsy-proven MN diagnosed between years 2008 and 2014 and followed up were enrolled retrospectively. Patients with ANCA, anti-GBM antibodies, lupus, hepatitis B virus infection, or malignance were excluded. Clinical features and outcomes were compared between MN patients with and without crescent.Out of 401 consecutive patients with idiopathic MN, 28 (6.9%) showed crescent formation in 4.9% (2.2%-16.7%) of glomeruli. Mean age of these patients was 50.1 ± 11.1 years, and they presented with heavy proteinuria (6.5 ± 4.8 g/24 h) and hematuria; 21.4% of these patients had declined estimated glomerular filtration rate (<60 mL/min/1.73 m) on biopsy. Anti-phospholipase A2 receptor antibody was detectable in 79.7% of these patients. These clinical features were comparable to the MN patients without crescent (P > 0.05). Twelve (42.9%) patients received steroids plus immunosuppressive therapy similar to that in patients without crescent (41.3%). Fewer patients with crescents achieved remission (67.9% vs 86.7%, P = 0.029). Crescent formation was a risk factor for no response to the treatments (odds ratio [OR] = 3.1, P = 0.033). Higher percentage of crescents predicted more risk for no remission (OR = 1.2, P = 0.038). Patients with crescents presented more frequencies of abnormal serum creatinine during follow-up (10.7% vs 1.3%, P = 0.031). Crescent formation was also a risk factor for worse renal outcome (relative risk = 10.2, P = 0.046).MN patients with crescents showed unfavorable therapeutic response and tended to have worse renal outcomes. More aggressive treatments and renal protection might be considered to improve the outcomes. PMID:26683965

  2. Stratigraphic evidence of past fluvial activity in southern Melas Chasma, Valles Marineris, Mars

    NASA Astrophysics Data System (ADS)

    Davis, Joel; Grindrod, Peter

    2014-05-01

    During the late Noachian and early Hesperian periods, listric faulting led to the development of a series of hanging depressions throughout the Valles Marineris canyon system [1]. One such depression, situated on the southern wall of Melas Chasma, forms an enclosed basin which has since undergone modification from the late Hesperian to Amazonian. There is a multitude of evidence suggesting that the basin (hereon in referred to as the Southern Melas Chasma Basin; SMCB) was once host to active fluvial processes, that at minimum lasted for several hundred years [2,3]. Central to this is what appears to be the remains of a palaeolake, which is approximately 80 by 40 kilometres in area. The palaeolake contains a complex sequence of sedimentary stratigraphy, which includes several structures that resemble deltas and/or submarine fans on both the east and west side of the basin [4], and appear to originate from a network of channels and valleys that terminate in the basin. Previous studies have shown that the western valley network has drainage densities similar to terrestrial values and a dendritic nature that is indicative of precipitation and surface runoff [3]. Higher resolution mapping of the SMCB is important to further understand the stratigraphic succession and geomorphology, and to quantify how long liquid water may have been present within the basin. For this study, new digital elevation models (DEMs) have been produced in SOCET SET using stereo images from the Context Camera (CTX) and the High Resolution Imaging Science Experiment (HiRISE), both aboard the Mars Reconnaissance Orbiter. The DEMs have been produced at ~6 and ~1 m/pixel vertical resolution for CTX and HiRISE respectively. There is approximately 150-200 m of sediment within the stratigraphic succession; some individual strata are less than 10 m thick. The delta/fan structures appear to occur at different stratigraphic positions low down within the sequence. Clinoform-like and cross-bedded structures are shown to occur near the top of the sequence (a contrast to the laterally expansive, planar beds below), which suggest a significant change in depositional conditions within the SMCB during the time liquid water was stable. References: 1. Andrews-Hanna, J. C. The formation of Valles Marineris: 3. Trough formation through super-isostasy, stress, sedimentation, and subsidence. J. Geophys. Res. 117, E06002 (2012). 2. Mangold, N., Quantin, C., Ansan, V., Delacourt, C. & Allemand, P. Evidence for precipitation on Mars from dendritic valleys in the Valles Marineris area. Science 305, 78-81 (2004). 3. Quantin, C. Fluvial and lacustrine activity on layered deposits in Melas Chasma, Valles Marineris, Mars. J. Geophys. Res. 110, E12S19 (2005). 4. Metz, J. M. et al. Sublacustrine depositional fans in southwest Melas Chasma. J. Geophys. Res. 114, E10002 (2009).

  3. Clinical features and autonomic testing predict survival in multiple system atrophy.

    PubMed

    Coon, Elizabeth A; Sletten, David M; Suarez, Mariana D; Mandrekar, Jay N; Ahlskog, J Eric; Bower, James H; Matsumoto, Joseph Y; Silber, Michael H; Benarroch, Eduardo E; Fealey, Robert D; Sandroni, Paola; Low, Phillip A; Singer, Wolfgang

    2015-12-01

    See Colosimo and Berardelli (doi:10.1093/brain/awv303) for a scientific commentary on this article.Multiple system atrophy is characterized by autonomic failure along with motor symptoms of parkinsonism and/or cerebellar ataxia. There are differing reports on the influence of certain clinical features, including motor subtype (multiple system atrophy-parkinsonism versus multiple system atrophy-cerebellar ataxia), age of onset, gender, and early autonomic symptoms, on the survival in patients with multiple system atrophy. We sought to evaluate overall survival and predictors of survival in a large cohort of patients with multiple system atrophy seen at a single referral centre where objective autonomic testing is routinely performed for this indication. All cases of multiple system atrophy evaluated at Mayo Clinic, Rochester and assessed with an autonomic reflex screen between January 1998 and December 2012 were retrospectively reviewed. A total of 685 patients were identified; 594 met criteria for probable multiple system atrophy, and 91 for possible multiple system atrophy. Multiple system atrophy-parkinsonism was the predominant subtype in 430 patients (63%). Average age of onset was earlier in multiple system atrophy-cerebellar ataxia (58.4 years) compared to multiple system atrophy-parkinsonism (62.3 years; P < 0.001). Median disease duration from symptom onset to death was 7.51 years (95% confidence interval 7.18-7.78) while time from diagnosis to death was 3.33 years (95% confidence interval 2.92-3.59). There was no difference in survival between motor subtypes of multiple system atrophy (P = 0.232). An initial motor symptom was most common (61%) followed by autonomic onset (28%) and combined motor and autonomic symptoms (11%). The initial onset of either motor or autonomic symptoms did not influence length of survival. However, a number of clinical and autonomic laboratory features predicted unfavourable survival in a univariate analysis. A multivariate model retained the following unfavourable predictors of survival: (i) falls within 3 years of onset (hazard ratio 2.31, P < 0.0001); (ii) bladder symptoms (hazard ratio 1.96, P < 0.0001); (iii) urinary catheterization within 3 years of symptom onset (hazard ratio 1.67, P < 0.003); (iv) orthostatic intolerance within 1 year of symptom onset (hazard ratio 1.28, P < 0.014); (v) older age of onset (hazard ratio 1.02, P = 0.001); and (vi) degree of autonomic failure as measured by a validated composite autonomic severity score (hazard ratio 1.07, P < 0.0023). We conclude that carefully selected clinical features can be used to predict survival in patients with multiple system atrophy. Autonomic testing adds an additional, independent predictor of survival, demonstrating its value not only in the diagnosis of multiple system atrophy but also as prognostic marker. PMID:26369944

  4. Does the choice of display system influence perception and visibility of clinically relevant features in digital pathology images?

    NASA Astrophysics Data System (ADS)

    Kimpe, Tom; Rostang, Johan; Avanaki, Ali; Espig, Kathryn; Xthona, Albert; Cocuranu, Ioan; Parwani, Anil V.; Pantanowitz, Liron

    2014-03-01

    Digital pathology systems typically consist of a slide scanner, processing software, visualization software, and finally a workstation with display for visualization of the digital slide images. This paper studies whether digital pathology images can look different when presenting them on different display systems, and whether these visual differences can result in different perceived contrast of clinically relevant features. By analyzing a set of four digital pathology images of different subspecialties on three different display systems, it was concluded that pathology images look different when visualized on different display systems. The importance of these visual differences is elucidated when they are located in areas of the digital slide that contain clinically relevant features. Based on a calculation of dE2000 differences between background and clinically relevant features, it was clear that perceived contrast of clinically relevant features is influenced by the choice of display system. Furthermore, it seems that the specific calibration target chosen for the display system has an important effect on the perceived contrast of clinically relevant features. Preliminary results suggest that calibrating to DICOM GSDF calibration performed slightly worse than sRGB, while a new experimental calibration target CSDF performed better than both DICOM GSDF and sRGB. This result is promising as it suggests that further research work could lead to better definition of an optimized calibration target for digital pathology images resulting in a positive effect on clinical performance.

  5. Clinical and pathological features of head and neck follicular dendritic cell sarcoma.

    PubMed

    Li, Ji; Zhou, Min-Li; Zhou, Shui-Hong

    2015-12-01

    Objectives Follicular dendritic cell sarcoma (FDCS) in the head and neck is uncommon. The etiology, pathogenesis, optimal treatment, and prognosis are not well understood. In this review, we investigated these features to deepen the understanding of the disease. Methods We reviewed FDCS in the head and neck in the English language literature through Medline. We analyzed the clinical characteristics, pathologic features, immunophenotypic profile, and treatments of FDCS. Results Of 137 reported cases of FDCS in the head and neck region, 127 included data on age and gender. Among those, 64 were females and 63 were males. The mean age was 46 years (9-79 years). In the 106 cases with complete follow-up data, fourteen patients (13.2%) had local recurrence. Fourteen patients (13.2%) had distant metastasis. The metastatic site involved the lung, liver, adrenal, rib, vertebral body, and iliac bone. The overall 5-year survival rate was 80.0%. Compared to nodal FDCS and extranodal FDCS, the overall 5-year survival rates were 71.1 and 85.3%, respectively, with no significance (P = 0.42), 0.8% waived treatment, 46.6% received surgery alone, 30.5% received surgery combined with postoperative radiotherapy, 8.4% received surgery combined with postoperative radiotherapy and chemotherapy, 7.6% received surgery combined with postoperative chemotherapy, 3.1% received chemotherapy alone, 2.2% received chemotherapy combined with radiotherapy, 0.8% received radiotherapy alone. Conclusions FDCS in the head and neck is rare. There was no difference in the survival between nodal and extranodal FDCS. The optimal treatment was undetermined. PMID:25831474

  6. Oxidative Stress and Erythrocyte Membrane Alterations in Children with Autism: Correlation with Clinical Features

    PubMed Central

    Visconti, Paola; Bolotta, Alessandra; Ferreri, Carla; Gobbi, Giuseppe; Malisardi, Gemma; Manfredini, Stefano; Marini, Marina; Nanetti, Laura; Pipitone, Emanuela; Raffaelli, Francesca; Resca, Federica; Mazzanti, Laura

    2013-01-01

    It has been suggested that oxidative stress may play a role in the pathogenesis of Autism Spectrum Disorders (ASD), but the literature reports somewhat contradictory results. To further investigate the issue, we evaluated a high number of peripheral oxidative stress parameters, and some related issues such as erythrocyte membrane functional features and lipid composition. Twenty-one autistic children (Au) aged 5 to 12 years, were gender and age-matched with 20 typically developing children (TD). Erythrocyte thiobarbituric acid reactive substances, urinary isoprostane and hexanoyl-lysine adduct levels were elevated in Au, thus confirming the occurrence of an imbalance of the redox status of Au, whilst other oxidative stress markers or associated parameters (urinary 8-oxo-dG, plasma radical absorbance capacity and carbonyl groups, erythrocyte superoxide dismutase and catalase activities) were unchanged. A very significant reduction of Na+/K+-ATPase activity (?66%, p<0.0001), a reduction of erythrocyte membrane fluidity and alteration in erythrocyte fatty acid membrane profile (increase in monounsaturated fatty acids, decrease in EPA and DHA-?3 with a consequent increase in ?6/?3 ratio) were found in Au compared to TD, without change in membrane sialic acid content. Some Au clinical features appear to be correlated with these findings; in particular, hyperactivity score appears to be related with some parameters of the lipidomic profile and membrane fluidity. Oxidative stress and erythrocyte membrane alterations may play a role in the pathogenesis of ASD and prompt the development of palliative therapeutic protocols. Moreover, the marked decrease in NKA could be potentially utilized as a peripheral biomarker of ASD. PMID:23840462

  7. Clinical and computed tomography imaging features of renal medullary carcinoma: A report of six cases

    PubMed Central

    SHI, ZHENSHAN; ZHUANG, QIAN; YOU, RUIXIONG; LI, YUEMING; LI, JIAN; CAO, DAIRONG

    2016-01-01

    Patients with renal medullary carcinoma (RMC) have a poor prognosis, usually due to late diagnosis. Computed tomography (CT) analysis may aid the differentiation between RMC and other types of renal cell carcinoma, in order to establish an accurate early diagnosis. There is a limited number of reports in the literature focusing on clinical and multi-slice CT (MSCT) imaging findings of RMC. Consequently, the present study aimed to characterize the clinical and MSCT imaging features of RMC. For this purpose, the MSCT imaging findings of 6 patients with RMC were retrospectively studied. The patients were subjected to MSCT in order to investigate the characteristics of the tumors, including location, size, density, calcification, cystic or solid appearance, capsule sign, enhancement pattern and presence of retroperitoneal lymph node metastasis. The tumors in the current study presented a mean diameter of 7.48±3.25 cm, and were observed to be solitary and heterogeneous with necrotic components. The majority of the tumors did not contain calcifications (5/6); displayed an ill-defined margin (4/6); were centered in the medulla; extended into the renal pelvis or peripelvic tissues (6/6); and did not exhibit a fibrous capsule. Localized caliectasis was observed in 3 of the 6 cases. The attenuation of the solid region of the RMC on unenhanced CT was equal to that of the renal cortex or medulla (42.3±2.7 vs. 40.7±3.6 and 41.2±3.9 Hounsfield units, respectively; P>0.05) while, on enhanced CT, the enhancement of the tumor was lower than that of the normal renal cortex and medulla during all phases (cortical phase, 52.6±4.8 vs. l99.5±9.7 and 72.7±6.4; medullary phase, 58.6±5.7 vs. 184.6±10.8 and 93.5±7.8; delayed phase, 56.8±6.1 vs. 175.7±8.5 and 96.5±7.9, respectively; P<0.05). In conclusion, RMC tends to be an infiltrative, ill-defined heterogeneous mass with intratumoral necrosis, which arises from the renal medulla, and displays lower enhancement than the renal cortex and medulla during all phases on enhanced CT. Despite its rarity in adults, RMC should be included in a differential diagnosis when CT imaging reveals these features. PMID:26870200

  8. Clinical features of adenosine sensitive syncope and tilt induced vasovagal syncope

    PubMed Central

    Brignole, M; Gaggioli, G; Menozzi, C; Del Rosso, A; Costa, S; Bartoletti, A; Bottoni, N; Lolli, G

    2000-01-01

    AIM—To evaluate the possible relation between adenosine sensitive syncope and tilt induced vasovagal syncope.
METHODS—An ATP test and a head up tilt test were performed in 175 consecutive patients with syncope of uncertain origin. The ATP test consisted of the rapid intravenous injection of 20 mg of ATP; a positive response was defined as the induction of a ventricular pause (maximum RR interval) ⩾ 6000 ms. The head up tilt test was performed at 60° for 45 minutes; if negative, 0.4 mg oral glyceryl trinitrate spray was given and the test continued for a further 20 minutes; a positive response was defined as induction of syncope in the presence of bradycardia, hypotension, or both.
RESULTS—Of the 121 patients with a positive response, 77 (64%) had a positive head up tilt alone, 18 (15%) had a positive ATP test alone, and in 26 (21%) both ATP and head up tilt were positive. Compared with the patients with isolated positive head up tilt, those with isolated positive ATP were older (mean (SD) age, 68 (10) v 45 (20) years), had a lower median number of syncopal episodes (2 v 3), a shorter median duration of syncopal episodes (4 v 36 months), a lower prevalence of situational, vasovagal, or triggering factors (11% v 64%), a lower prevalence of warning symptoms (44% v 71%), and a higher prevalence of systemic hypertension (22% v 5%) and ECG abnormalities (28% v 9%). The patients with a positive response to both tests had intermediate features. Of the 44 positive responses to the ATP test, atrioventricular block was the cause of the ventricular pause in 43; of the 29 positive cardioinhibitory responses to head up tilt, sinus arrest was present in 23 cases and atrioventricular block in six.
CONCLUSIONS—ATP and head up tilt tests identify different populations of patients affected by syncope; these have different general clinical features, different histories of syncopal episodes, and different mechanism sites of action. Therefore, adenosine sensitive syncope and tilt induced vasovagal syncope are two distinct clinical entities.


Keywords: syncope; adenosine; ATP; head up tilt PMID:10618330

  9. [Immunophenotypes, cytogenetics and clinical features of 192 patients with acute myeloid leukemia].

    PubMed

    Tong, Hai-Xia; Wang, Hui-Han; Zhang, Ji-Hong; Liu, Zhuo-Gang; Zheng, Ying-Chun; Wang, Yun-Xiu

    2009-10-01

    The objective of this study was to investigate the immunophenotypic subtype profiles of 192 patients with acute myeloid leukemia (AML) and its association to cytogenetics and clinical features. Immunophenotyping of 192 patients was performed by flow cytometry using a panel of monoclonal antibodies. The karyotypes in 125 out of 192 cases were analyzed by G-banding technology. The results showed that CD33, CD13, myeloperoxidase (MPO) and CD117 were the most commonly expressed antigens in AML. CD117 expressed in 84.6% of AML-M3 cases. A combination of intensive autofluorescence, both CD34- and HLA-DR-, and high expression of CD13, CD33 and MPO had significant value for AML-M3 diagnosis. CD14 expressed only in AML-M4 and AML-M5, and both intensive positivity of CD64 and CD15 with high expression of HLA-DR may suggest great possibility for diagnosis of AML-M5. Lymphoid marker expression was documented in 47.9% of the 192 AML cases. CD56 (26.0%) and CD7 (20.8%) were the most commonly expressed lymphoid markers in AML patients, followed by CD19 (9.9%) and CD2 (7.3%). Abnormal karyotypes were detected in 76 out of 125 cases (60.8%). Correlation test showed that t(8;21) was found only in 17 cases of AML-M2 and strongly associated with the individual or combinational expressions of CD15/CD19/CD56. And 28 cases of t(15;17) were found in AML-M3; 2 cases of inv(16) were found in AML-M4EO. Higher CD34 positivity was found in LymAg+ group (77.2%) than that in LymAg- group (48.0%). It is concluded that immunophenotype analysis is useful for AML diagnosis and classification, and the immunophenotype has close relevance to the abnormal cytogenetic changes and clinical features in AML. The results suggested that a new prognostic scoring system that integrated the morphology, cytogenetic abnormalities and immunophenotype parameters would benefit the diagnosis, classification, and estimation of prognosis in AML patients. PMID:19840445

  10. Clinical features of transient ischemic attack associated with atrial fibrillation: analysis of 1084 TIA patients.

    PubMed

    Inoue, Takeshi; Kimura, Kazumi; Minematsu, Kazuo; Yamaguchi, Takenori

    2004-01-01

    Approximately 10% of patients with transient ischemic attack (TIA) associate with atrial fibrillation (AF). The present study aimed to clarify clinical features of TIA patients with AF. The study group comprised 1084 patients with TIA who were registered in the Japan Multicenter Stroke Investigators' Collaboration (J-MUSIC) registry between May 1999 to April 2000. Clinical characteristics and symptoms during ictus were analyzed to investigate factors associated with AF using multivariate logistic analysis. Subjects were categorized into an AF group (n = 186, 17%; median age, 72 years) and a non-AF group (n = 898, 83%; median age, 69 years). Multivariate logistic regression analysis identified 4 variables as independent factors associated with AF: (1) age > 59 years (odds ratio [OR], 2.3; 95% confidence interval [CI], 1.4-3.8), (2) consciousness disturbance (OR, 1.6; 95% CI, 1.1-2.4), (3) speech disturbance (OR, 1.7; 95% CI, 1.2-2.4), and (4) gait disturbance (OR, 1.6; 95% CI, 1.1-2.2). Using a simple index of 1 point for each factor of age > or = 60 years, consciousness disturbance, speech disturbance, and gait disturbance, 4.8% of patients without these factors displayed AF, compared with 12.4% of patients with 1 factor, 20.6% with 2 factors, and 29.7% with 3 or 4 risk factors. In all TIA patients, the frequency of association with AF was 17%. TIA patients with AF are likely to be older (> or = 60 years) and to have more frequent disturbance of consciousness, speech, or gait during the attack compared with those without AF. The pathogenesis of TIA may differ between TIA patients with and without AF. PMID:17903968

  11. Clinical features and risk factor analysis for lower extremity deep venous thrombosis in Chinese neurosurgical patients

    PubMed Central

    Guo, Fuyou; Shashikiran, Tagilapalli; Chen, Xi; Yang, Lei; Liu, Xianzhi; Song, Laijun

    2015-01-01

    Background: Deep venous thrombosis (DVT) contributes significantly to the morbidity and mortality of neurosurgical patients; however, no data regarding lower extremity DVT in postoperative Chinese neurosurgical patients have been reported. Materials and Methods: From January 2012 to December 2013, 196 patients without preoperative DVT who underwent neurosurgical operations were evaluated by color Doppler ultrasonography and D-dimer level measurements on the 3rd, 7th, and 14th days after surgery. Follow-up clinical data were recorded to determine the incidence of lower extremity DVT in postoperative neurosurgical patients and to analyze related clinical features. First, a single factor analysis, Chi-square test, was used to select statistically significant factors. Then, a multivariate analysis, binary logistic regression analysis, was used to determine risk factors for lower extremity DVT in postoperative neurosurgical patients. Results: Lower extremity DVT occurred in 61 patients, and the incidence of DVT was 31.1% in the enrolled Chinese neurosurgical patients. The common symptoms of DVT were limb swelling and lower extremity pain as well as increased soft tissue tension. The common sites of venous involvement were the calf muscle and peroneal and posterior tibial veins. The single factor analysis showed statistically significant differences in DVT risk factors, including age, hypertension, smoking status, operation time, a bedridden or paralyzed state, the presence of a tumor, postoperative dehydration, and glucocorticoid treatment, between the two groups (P < 0.05). The binary logistic regression analysis showed that an age greater than 50 years, hypertension, a bedridden or paralyzed state, the presence of a tumor, and postoperative dehydration were risk factors for lower extremity DVT in postoperative neurosurgical patients. Conclusions: Lower extremity DVT was a common complication following craniotomy in the enrolled Chinese neurosurgical patients. Multiple factors were identified as predictive of DVT in neurosurgical patients, including the presence of a tumor, an age greater than 50 years, hypertension, and immobility. PMID:26752303

  12. Clinical and genetic features of human prion diseases in Catalonia: 1993-2002.

    PubMed

    Sanchez-Valle, R; Nos, C; Yagüe, J; Graus, F; Domínguez, A; Saiz, A

    2004-10-01

    We describe the clinical and genetic characteristics of the 85 definite or probable human prion diseases cases died between January 1993 and December 2002 in Catalonia (an autonomous community of Spain, 6 million population). Seventy-three (86%) cases were sporadic Creutzfeld-Jakob diseases (sCJD) (49 definite, 24 probable), with a median age at onset of 66 years. The clinical presentation was dementia in 29 cases, ataxia in 14 and visual symptoms in five. The median survival was 3 months. The 14-3-3 assay was positive in 93% cases, 62% presented periodic sharp wave complexes (PSWC) in EEG but only 18% the typical signs on MRI. Forty-eight sCJD were studied for codon 129 PRNP polymorphism: 69% were methionine/methionine (M/M), 14.5% valine/valine (V/V) and 16.5% M/V. Six out of seven V/V cases did not present PSWC and in two survival was longer than 20 months. Eleven cases (13%) were genetic: five familial fatal insomnia and six familial CJD (fCJD). Up to four (67%) fCJD lacked family history of disease, two presented seizures early at onset and one neurosensorial deafness. The only iatrogenic case was related to a dura mater graft. No case of variant CJD was registered. The study confirms in our population the consistent pattern reported worldwide on human prion diseases. Atypical features were seen more frequently in sporadic 129 V/V CJD and fCJD cases. PMID:15469448

  13. Nasal-type NK/T cell lymphoma: clinical features and treatment outcome

    PubMed Central

    Lee, J; Kim, W S; Park, Y H; Park, S H; Park, K W; Kang, J H; Lee, S S; Lee, S I; Lee, S-H; Kim, K; Jung, C W; Ahn, Y C; Ko, Y H; Park, K

    2005-01-01

    Nasal-type NK/T cell lymphoma is an increasingly recognised disease entity of aggressive clinical behaviour. The objective of this study was to investigate clinical features and treatment outcomes in patients with nasal-type NK/T cell lymphoma. From January 1991 to December 2003, 26 patients diagnosed as nasal-type NK/T cell lymphoma were included in the analysis. One half of patients presented with poor performance status (ECOG ?2); 46% of patients were categorised as high intermediate or high-risk group according to IPI; and 46% of patients were diagnosed at advanced stage. The median survival for 26 patients with nasal-type NK/T cell lymphoma was 7.4 months (95% CI, 0.1, 16.9). The treatment outcome of primary anthracycline-based chemotherapy was poor: 60% CR rate in localised disease and 0% CR rate in advanced disease. After a median follow-up of 24.4 months (range 3.1–99.0) in patients with localised disease who had achieved a CR (range 29.6–165.7), three patients (50.0%) developed disease recurrence at 6.1, 21.8, and 52.1 months, respectively, and all patients presented with locoregional failure. The predictive factors for poor survival were of age greater than 60, advanced stage and poor performance in multivariate analysis. In conclusion, Nasal-type NK/T cell lymphomas showed a poor response to the conventional anthracycline-based chemotherapy, and thus an investigation for an innovative therapy is urgently needed to improve survival in these patients. PMID:15798768

  14. Prevalence and Clinical Features of Patients with the Cardiorenal Syndrome Admitted to an Internal Medicine Ward

    PubMed Central

    Gigante, Antonietta; Liberatori, Marta; Gasperini, Maria Ludovica; Sardo, Liborio; Di Mario, Francesca; Dorelli, Barbara; Barbano, Biagio; Rosato, Edoardo; Rossi Fanelli, Filippo; Amoroso, Antonio

    2014-01-01

    Background Many patients admitted to a Department of Internal Medicine have different degrees of heart and kidney dysfunction. Mortality, morbidity and cost of care greatly increase when cardiac and renal diseases coexist. Methods A retrospective cohort study was conducted on 1,087 patients admitted from December 2009 to December 2012 to evaluate the prevalence of the cardiorenal syndrome (CRS) and clinical features. Results Out of 1,087 patients discharged from our unit during the study period, 190 (17.5%) were diagnosed as having CRS and classified into five types. CRS was more common in males (68.9%). CRS type 1 was associated with higher age (79.9 ± 8.9 years) and accounted for 61.5% of all deaths (p < 0.001), representing a risk factor for mortality (OR 4.23, 95% CI 1.8-10). Congestive heart failure was significantly different among the five CRS types (p < 0.0001) with a greater frequency in type 1 patients. Infectious diseases were more frequent in CRS types 1, 3 and 5 (p < 0.05). Pneumonia presented a statistically higher frequency in CRS types 1 and 5 compared to other classes (p < 0.01), and community-acquired infections were statistically more frequent in CRS types 1 and 5 (p < 0.05). The distribution of community-acquired pneumonia was different among the classes (p < 0.01) with a higher frequency in CRS types 1, 3 and 5. Conclusion CRS is a condition that is more frequently observed in the clinical practice. The identification of predisposing trigger factors, such as infectious diseases, particularly in the elderly, plays a key role in reducing morbidity and mortality. An early recognition can be useful to optimize therapy, encourage a multidisciplinary approach and prevent complications. PMID:25254030

  15. Clinical features of organophosphate poisoning: A review of different classification systems and approaches

    PubMed Central

    Peter, John Victor; Sudarsan, Thomas Isiah; Moran, John L.

    2014-01-01

    Purpose: The typical toxidrome in organophosphate (OP) poisoning comprises of the Salivation, Lacrimation, Urination, Defecation, Gastric cramps, Emesis (SLUDGE) symptoms. However, several other manifestations are described. We review the spectrum of symptoms and signs in OP poisoning as well as the different approaches to clinical features in these patients. Materials and Methods: Articles were obtained by electronic search of PubMed® between 1966 and April 2014 using the search terms organophosphorus compounds or phosphoric acid esters AND poison or poisoning AND manifestations. Results: Of the 5026 articles on OP poisoning, 2584 articles pertained to human poisoning; 452 articles focusing on clinical manifestations in human OP poisoning were retrieved for detailed evaluation. In addition to the traditional approach of symptoms and signs of OP poisoning as peripheral (muscarinic, nicotinic) and central nervous system receptor stimulation, symptoms were alternatively approached using a time-based classification. In this, symptom onset was categorized as acute (within 24-h), delayed (24-h to 2-week) or late (beyond 2-week). Although most symptoms occur with minutes or hours following acute exposure, delayed onset symptoms occurring after a period of minimal or mild symptoms, may impact treatment and timing of the discharge following acute exposure. Symptoms and signs were also viewed as an organ specific as cardiovascular, respiratory or neurological manifestations. An organ specific approach enables focused management of individual organ dysfunction that may vary with different OP compounds. Conclusions: Different approaches to the symptoms and signs in OP poisoning may better our understanding of the underlying mechanism that in turn may assist with the management of acutely poisoned patients. PMID:25425841

  16. LETM1 overexpression is correlated with the clinical features and survival outcome of breast cancer

    PubMed Central

    Li, Nan; Zheng, Yahui; Xuan, Chouhui; Lin, Zhenhua; Piao, Longzhen; Liu, Shuangping

    2015-01-01

    Background: Leucine zipper/EF hand-containing transmembrane-1 (LETM1) is a mitochondrial inner membrane protein that was first identified in Wolf-Hirschhorn syndrome. However, high-level expression of LETM1 has been correlated with multiple human malignancies, suggesting roles in carcinogenesis and tumor progression. This study is aimed to explore the clinicopathological characteristics and prognostic value of LETM1 overexpression in breast cancer. Methods: Immunohistochemical (IHC) staining, and immunofluorescence (IF) were performed to examine LETM1 expression in breast cancer cell line/tissues compared with adjacent normal tissues. Statistical analysis was applied to evaluate the correlation between LETM1 overexpression and the clinicopathological features of breast cancer. Survival rates were calculated using the Kaplan-Meier method, and the relationship between prognostic factors and patient survival was analyzed using the Cox proportional hazard models. Results: LETM1 protein showed cytoplasmic staining pattern in breast cancer. The strongly positive rate of LETM1 protein was 61.6% (98/159) in breast cancer, which was significantly higher than in DCIS (29.7%, 11/37), hyperplasia (16.7%, 3/18) and adjacent normal breast tissues (15.9%, 7/44). High-level expression of LETM1 protein was correlated with lymph node metastasis, poor differentiation, late clinical stage, disease-free survival (DFS) and overall survival (OS) rates in breast cancer. Moreover, multivariate analysis suggested that LETM1 emerged as a significant independent prognostic factor along with clinical stage of patients with breast cancer. Conclusions: LETM1 plays an important role in the progression of breast cancer. High level expression of LETM1 is an independent poor prognostic factor of breast cancer. PMID:26722481

  17. Prevalence and Clinical Features of Blastocystis hominis Infection among Patients in Sebha, Libya

    PubMed Central

    Al-Fellani, Mohammed A; Khan, Abdul H; Al-Gazoui, Rugaia M; Zaid, Mabrouk K; Al-Ferjani, Mahmoud A

    2007-01-01

    Objective: To determine the prevalence and seasonal variation, and to assess the clinical manifestations and treatment of blastocystosis in Libyan patients. Methods: Three thousand six hundred and forty five stool samples were screened for Blastocystis hominis using normal saline and iodine solution preparations. The clinical features of 108 patients were described, in whom B. hominis was the only parasite isolated. Fifty symptomatic patients were treated with 1500 mg metronidazole daily for 7 days and their stools were re-investigated for B. hominis. Results: B. hominis was found in 969 (26.58 %) of 3645 stool specimens examined. The infection of B. hominis was significantly more (p < 0.05) in summer than in winter over a three year period. In a prospective study of 108 patients, the most common symptoms with stools positive only for B. hominis were diarrhoea (84.94 %), abdominal pain (66.66 %), flatulence (17.20 %) and vomiting (16.12 %). High concentration of B. hominis cells were found more in symptomatic patients than asymptomatic ones (9.20 cells per 40 X field versus 4.06 respectively) with statistically significant differences (p < 0.001). Patients with B. hominis responded to metronidazole and were fully cured after 7 days. Conclusion: The occurrence of B. hominis infections in outpatients are probably related to weather conditions, with the suggestion that the hot, dry weather of the Sebha region favors the development and transmission of this organism. B. hominis infections might have a role in some pathological conditions, resulting in gastrointestinal symptoms. PMID:21654943

  18. Clinical study of the Pronator Quadratus muscle: anatomical features and feasibility of Pronator-Sparing Surgery

    PubMed Central

    2014-01-01

    Background No clinical data for the relationship of pronator quadratus (PQ) muscle to distal radius had been reported. The aim of this study was to investigate the anatomical features of the PQ muscle related to plate osteosynthesis for distal radius fractures in clinical cases. The feasibility of PQ muscle sparing surgery was investigated as well. Methods Fifty two distal radius fractures (23-A2) were enclosed in this study. The whole width of the muscle and the distance from the distal edge of the muscle to the joint surface of the distal radius were measured. The distance from the fracture site of the radius to the joint surface was measured as well. Results The average width of the pronator quadratus muscle was 37.6 mm. The average distance from the pronator quadratus muscle to the lunate fossa surface was 12.2 mm, and the average distance from the pronator quadratus muscle to the scaphoid fossa surface was 13.6 mm. The average distance from the lunate fossa of the distal radius to the fracture site was 12.2 mm (range, 7.3-17 mm), and the scaphoid fossa of the distal radius to the fracture site was 13.2 mm (range, 9.4-18.8 mm). Conclusions This PQ muscle sparing surgery is feasible and can be performed without difficulty. The data might provide a useful basis for the preservation of pronator quadratus muscle applied to a functionally reduced fracture regarding the potential efficacy of conventional volar plate osteosynthesis. PMID:24762047

  19. Arterial desaturation syndrome following pleurodesis with talc slurry: incidence, clinical features, and outcome.

    PubMed

    Bondoc, Anna York; Bach, Peter B; Sklarin, Nancy T; Vander Els, Nicholas J

    2003-01-01

    The objectives were to define the incidence, risk factors, clinical features and outcome of arterial desaturation syndrome following talc pleurodesis in patients with malignant pleural effusions. This retrospective, observational study took place at a tertiary care cancer center in New York. All patients were those with malignancy who underwent pleurodesis with talc in 1998 at Memorial Sloan Kettering Cancer Center. Characteristics of patients are described by using summary statistics. Differences between groups were assessed with the Fisher's exact statistic for categorical variables and Student's t-test for continuous variables. Among patients who were considered to have arterial desaturation syndrome, we evaluated the relation of SaO2/FIO2 pre- and post-talc installation using a paired Student's t-test. During 1998, 120 patients underwent pleurodesis with talc, and 8 (7%) developed arterial desaturation following the procedure. Symptoms included chest pain, dyspnea, fever, and increased need for oxygen supplementation developed typically within 1 day. Three of the eight patients in this series required mechanical ventilation, but all recovered uneventfully after treatment, which included high-dose corticosteroids. Patients with breast and ovarian cancer appeared to be at increased risk for this complication compared to those patients with other types of cancer (p = 0.01). Approximately 7% of patients who have undergone sclerosis with talc for a malignant pleural effusion will develop arterial desaturation with clinically significant hypoxia requiring supplemental oxygen following the procedure. It appears that most patients recover from this complication and that those with breast and ovarian cancer may be at higher risk. PMID:14735688

  20. Molecular alterations in clinical stage III cutaneous melanoma: Correlation with clinicopathological features and patient outcome

    PubMed Central

    RUTKOWSKI, PIOTR; GOS, ALEKSANDRA; JURKOWSKA, MONIKA; ŚWITAJ, TOMASZ; DZIEWIRSKI, WIRGINIUSZ; ZDZIENICKI, MARCIN; PTASZYŃSKI, KONRAD; MICHEJ, WANDA; TYSAROWSKI, ANDRZEJ; SIEDLECKI, JANUSZ A.

    2014-01-01

    The aim of the present study was to evaluate the frequency and type of oncogenic v-raf murine sarcoma viral oncogene homolog B1 (BRAF)/neuroblastoma RAS viral (v-ras) oncogene homolog (NRAS) mutations in cutaneous melanoma with clinically detected nodal metastases (stage IIIB and C) in relation to clinicopathological features and outcome. The clinicopathological data of 250 patients following therapeutic lymphadenectomy (LND) between 1995 and 2010, as well as BRAF/NRAS mutational status in corresponding nodal metastases, were analyzed. The median follow-up time was 53 months. BRAF mutations were detected in 154 (62%) cases (141 p.V600E, nine p.V600K and four others) and mutually exclusive NRAS mutations were detected in 42 (17%) cases. The presence of a BRAF mutation was found to correlate with patients of a younger age. The five-year overall survival (OS) rate was 33 and 43% for LND and primary tumor excision, respectively, and the five-year disease-free survival (DFS) rate for LND was 25%. No correlation was identified between BRAF/NRAS mutational status and RFS or OS (calculated from the date of the LND and primary tumor excision); for BRAF- and NRAS-mutated melanoma, the prognosis was the same for patients with wild-type (WT) melanoma. The important factors which had a negative impact on OS and DFS were as follows: Male gender, >1 metastatic lymph node and extracapsular extension of nodal metastases. The interval between the diagnosis of the initial melanoma to regional nodal metastasis (median, 10 months) was not significantly different between BRAF-mutant and -WT patients. Our largest comprehensive molecular analysis of clinical stage III melanoma revealed that BRAF and NRAS mutational status is not a prognostic marker in stage III melanoma patients with macroscopic nodal involvement, but may have implications for potential adjuvant therapy. PMID:24959217

  1. Clinical, biochemical, and genetic features of non-classical 21-hydroxylase deficiency in Japanese children.

    PubMed

    Kashimada, Kenichi; Ishii, Tomohiro; Nagasaki, Keisuke; Ono, Makoto; Tajima, Toshihiro; Yokota, Ichiro; Hasegawa, Yukihiro

    2015-01-01

    Non-classical 21-hydroxylase deficiency (NC21-OHD) is a mild form of 21-hydroxylase deficiency lacking apparent symptoms of androgen excess at birth. Most NC21-OHD cases are diagnosed after the onset of puberty, while a substantial number of patients are not diagnosed during childhood. Previous studies have reported ethnic differences in the prevalence of NC21-OHD. To date, the clinical features of NC21-OHD in Japanese children have not been systemically reported. Thus, we performed 3 independent analyses: retrospective analyses of newborn screening in 2 major Japanese cities (Sapporo and Niigata) and a national surveillance collecting clinical information from pediatric endocrinologists throughout the country. During the last 10 years, one case of NC21-OHD was diagnosed by newborn screening in each city, resulting in incidences of 2.0 (95% confidence interval = 0.0-5.9) and 2.1 (0.0-6.2) per 1,000,000 in Sapporo and Niigata, respectively. We collected information from 85% of the 135 Councilors of Japanese Society of Pediatric Endocrinology. Fifteen NC21-OHD patients were diagnosed during childhood, resulting in the estimated prevalence of 0.58 (0.28-1.1) per 1,000,000. Eleven patients were discovered by newborn screening, 7 patients developed hyperandrogenism symptoms (2-8 years of age, median 7), and 9 patients were treated with hydrocortisone at the time of the survey. Ten out of 13 patients showed compound heterozygosity for the P30L mutation of CYP21A2. Our study suggests that the prevalence/incidence of NC21-OHD is lower than that in Western countries, and that the age for initial onset of androgen excess symptoms varies during the prepubertal period. PMID:25736066

  2. Association of HLA-DPB1 with scleroderma and its clinical features in Chinese population.

    PubMed

    Wang, Jiucun; Guo, Xinjian; Yi, Lin; Guo, Gang; Tu, Wenzhen; Wu, Wenyu; Yang, Li; Xiao, Rong; Li, Yuan; Chu, Haiyan; He, Dongyi; Jin, Li; Mayes, Maureen D; Zou, Hejian; Zhou, Xiaodong

    2014-01-01

    Human leukocyte antigen DPB1 was reported to contain singly nucleotide polymorphisms conferring the strongest susceptibility to systemic sclerosis in Korean population. However, associations of specific DPB1 alleles with SSc vary in different ethnic populations. The aim of this study was to profile DPB1 alleles in Chinese population and to identify specific DPB1 alleles in association with SSc and clinical and serological features of SSc in Han Chinese. A cohort containing 338 patients with SSc and 480 gender-matched and unrelated controls were examined in the study. The HLA-DPB1 genotyping was performed with sequence-based typing method. Exact p-values were obtained (Fisher's test) from 2×2 tables of allele counts or allele carriers and disease status. Thirty eight DPB1 alleles were found in the cohort. DPB1*05:01 was the most common allele in this cohort. DPB1*03:01 and *13:01 were significantly increased in SSc. DPB1*13:01 association had already been described in other ethnic populations, whereas DPB1*03:01 was specific to Han Chinese patients with SSc. In addition, comparisons between SSc subsets indicated that patients carrying DPB1*03:01 were more likely to develop pulmonary fibrosis, DPB1*04 carriers were increased in SSc patients with anti-centromere autoantibodies and in contrast, SSc patients with homozygous DPB1*05:01 showed an opposite association with marginal significance. PMID:24498086

  3. Diprosopia/dicephalia in calves in northern Italy: clinical and aetio-pathological features.

    PubMed

    Biasibetti, E; D'Angelo, A; Bellino, C; Gay, L; Gianella, P; Capucchio, M T

    2011-12-01

    Cephalic parapagia, a rare congenital anomaly caused by the fusion of two monozygotic embryos, is characterized by a single body and a spectrum of duplication of craniofacial structures. The authors describe the clinical and pathological aspects of the parapagus conjoined twin defect in nine calves referred to the Department of Animal Pathology, Turin, between 1999 and 2009. The majority of the calves (eight cases) presented two snouts that shared three or four eyes (diprosopia); one calf presented two separate skulls fused at the foramen magnum (dicephalia). Bilateral inferior brachygnathia was observed in four calves. Post-mortem examination of the skull revealed complete brain duplication with fusion at the caudal portion of the brainstem in all calves. Histological features of the cerebral hemispheres and brainstem were normal; moderate disorganization of the cerebellar cortex was noted in two cases. Cardiac malformations were observed in three calves. No aetiologic cause was determined. This article underscores the importance of diprosopia in cattle species and suggests the need for more detailed investigations to better understand its pathogenesis. PMID:21711387

  4. Hemizygosity at the elastin locus and clinical features of Williams syndrome

    SciTech Connect

    Morimoto, Y; Kuwano, A.; Kuwajima, K.

    1994-09-01

    Williams syndrome is a recognizable syndrome characterized by distinctive facial appearance, gregarious personality, mental retardation, congenital heart defect, particularly supravalvular aortic stenosis (SVAS), and joint limitation. SVAS is an autosomal vascular disorder and the elastin gene was disrupted in patients with SVAS. Ewat et al. reported that hemizygosity at the elastin locus was detected in four familial and five sporadic cases of Williams syndrome. However, three patients did not have SVAS. We reconfirmed hemizygosity at the elastin locus in five patients with typical clinical features of Williams syndrome. Hemizygosity was detected in four cases with SVAS. However, one patient with distinctive facial appearance and typical Williams syndrome personality had two alleles of the elastin gene, but he did not have the congenital heart anomaly. Williams syndrome is thought to be a contiguous gene disorder. Thus, our data suggest that the elastin gene is responsible for the vascular defect in patients with Williams syndrome, and flanking genes are responsible for characteristic facial appearance and personality.

  5. White dot syndromes: a 20-year study of incidence, clinical features and outcomes

    PubMed Central

    Abu-Yaghi, Nakhleh E.; Hartono, Stella P.; Hodge, David O.; Pulido, Jose S.; Bakri, Sophie J.

    2012-01-01

    Purpose To measure the incidence of white dot syndromes (WDS) in a community-based population and to report clinical features and outcomes. Methods Multi-center retrospective study using the Rochester Epidemiology Project medical records linkage system of Olmsted County, Minnesota. Databases were searched to identify all patients with WDS from January 1, 1988 through December 31, 2008. Results Mean ophthalmic follow-up was 4.5 years and mean general medical follow-up was 9.1 years. The incidence of WDS was 0.45 per 100,000 per year (95% CI 0.19 - 0.71). Incidence rates for specific disease entities were also calculated. We report some associated autoimmune diseases in our series. Multiple evanescent white dot syndrome (MEWDS) was more common in females and acute posterior multifocal placoid pigment epitheliopathy (APMPPE) was more common in males. Both MEWDS and APMPPE generally carried a good visual prognosis. Fifty percent of cases with APMPPE in our series had a positive history of psoriasis. The only punctuate inner choroidopathy (PIC) case carried that diagnosis as well. Conclusions WDS are rare diseases, and may be associated with other autoimmune diseases. Further studies with more patients and longer follow up periods are needed to draw conclusions about visual prognosis, development of other ocular conditions and associated medical diseases. PMID:22106911

  6. Autistic spectrum disorders: A review of clinical features, theories and diagnosis.

    PubMed

    Fakhoury, Marc

    2015-06-01

    Autism spectrum disorder (ASD) is a set of neurodevelopmental disorders that is among the most severe in terms of prevalence, morbidity and impact to the society. It is characterized by complex behavioral phenotype and deficits in both social and cognitive functions. Although the exact cause of ASD is still not known, the main findings emphasize the role of genetic and environmental factors in the development of autistic behavior. Environmental factors are also likely to interact with the genetic profile and cause aberrant changes in brain growth, neuronal development, and functional connectivity. The past few years have seen an increase in the prevalence of ASD, as a result of enhanced clinical tests and diagnostic tools. Despite growing evidence for the involvement of endogenous biomarkers in the pathophysiology of ASD, early detection of this disorder remains a big challenge. This paper describes the main behavioral and cognitive features of ASD, as well as the symptoms that differentiate autism from other developmental disorders. An attempt will be made to integrate all the available evidence which point to reduced brain connectivity, mirror neurons deficits, and inhibition-excitation imbalance in individuals with ASD. Finally, this review discusses the main factors involved in the pathophysiology of ASD, and illustrates some of the most important markers used for the diagnosis of this debilitating disorder. PMID:25862937

  7. The relationship between radiological features and clinical manifestation and dental expenses of keratocystic odontogenic tumor

    PubMed Central

    Min, Jung-Hyun; Huh, Kyung-Hoe; Heo, Min-Suk; Choi, Soon-Chul; Yi, Won-Jin; Bae, Kwang-Hak; Choi, Jin-Woo

    2013-01-01

    Purpose This study was performed to identify correlations between keratocystic odontogenic tumor (KCOT) data from CT sections, and data on the KCOT clinical manifestation and resulting dental expenses. Materials and Methods Following local Institutional Review Board (IRB) approval, a seven-years of retrospective study was performed regarding patients with KCOTs treated at the Seoul National University Dental Hospital. A total of 180 KCOT were included in this study. The following information was collected: age, gender, location and size of the lesion, radiological features, surgical treatment provided and dental expenses. Results There was no significant association between the size of the KCOT and age, gender, and presenting preoperative symptoms. In both jaws, it was unusual to find KCOTs under 10 mm. The correlation between the number of teeth removed and the size of the KCOT in the tooth bearing area was statistically significant in the mandible, whereas in the maxilla, no significant relationship was found. Dental expenses compared with the size of the KCOT were found to be significant in both jaws. Conclusion The size of KCOT was associated with a significant increase in dental expenses for both jaws and the number of teeth removed from the mandible. These findings emphasize the importance of routine examinations and early detection of lesions, which in turn helps preserving anatomical structures and reducing dental expenses. PMID:23807932

  8. Clinical and immunologic features of systemic contact dermatitis from ingestion of Rhus (Toxicodendron).

    PubMed

    Oh, Seok-Hun; Haw, Choong-Rim; Lee, Mu-Hyoung

    2003-05-01

    Oral or parenteral exposure to certain contact allergens may elicit an eczematous skin reaction in sensitized individuals. This phenomenon has been called systemic contact dermatitis (SCD) and is relatively rare when compared with classical contact dermatitis. We reviewed and analysed the clinical and immunologic features of 42 patients with SCD caused by ingestion of Rhus (Toxicodendron), 24 males and 18 females, average age 44 years (range 24-72). Several of such patients (33%) had a known history of allergy to lacquer. The patients developed skin lesions such as generalized maculopapular eruptions (50%), erythroderma (29%), vesiculobullous lesions (14%) and erythema multiform (EM)-like lesions (7%). Many patients (57%) developed leucocytosis with neutrophilia (74%). In some patients (5%), abnormalities of liver function developed. We also analysed lymphocyte subsets in the peripheral blood of 12 patients. The lymphocyte subsets studied were T cells (CD3), B cells (CD19), natural killer (NK) cells (CD3-CD16+/CD56+), helper/inducer cells (CD4), cytotoxic/suppressor cells (CD8) and helper/suppressor ratio (CD4/CD8). The lymphocyte subsets of all 12 patients studied were within the normal range. Moreover, there were no differences between patients with a history of allergy to lacquer and those without a history of allergy to lacquer. Therefore, rather than an immunologic response, the skin eruption seems to be caused by a toxic reaction because of Rhus. PMID:12868965

  9. Clinical features and molecular modelling of novel MPZ mutations in demyelinating and axonal neuropathies

    PubMed Central

    Mandich, Paola; Fossa, Paola; Capponi, Simona; Geroldi, Alessandro; Acquaviva, Massimo; Gulli, Rossella; Ciotti, Paola; Manganelli, Fiore; Grandis, Marina; Bellone, Emilia

    2009-01-01

    Mutations in the myelin protein zero (MPZ) gene have been associated with different Charcot–Marie–Tooth disease (CMT) phenotypes, including classical demyelinating CMT1B and the axonal form of the disease (CMT2). The MPZ role in the pathogenesis of both demyelinating and axonal inherited neuropathies was evaluated in the Italian population by screening a cohort of 214 patients with CMT1 or CMT2. A MPZ mutation frequency of 7.9% in demyelinating cases and of 4.8% in axonal cases was observed. In the total cohort (264 patients), including those with mutations in other genes, a mutation frequency of 5.8% (7/121) in demyelinating cases and 4.2% (6/143) in axonal cases was found. Three novel MPZ mutations, two missense (p.Ser111Cys, p.Thr124Ala) and one frameshift (p.Tyr145fs) were found, and a molecular modelling approach was used to test the effects of these mutations on the protein structure. Electrostatic distribution changes within the protein, caused by the amino acid substitution, fit in with phenotypes presented by patients herein described. Our findings suggest that the clinical features associated with MPZ mutations depend partly on the nature of amino acid change and that molecular modelling may provide useful support, based on effects on secondary and tertiary protein structure, to predict the phenotype associated with MPZ mutations. PMID:19293842

  10. Clinical features of infectious keratitis at a tertiary referral center in a rural area of Korea

    PubMed Central

    Lee, Seung-Jun; Lee, Jang Hun; Kim, Moosang; Han, Sang Beom; Hyon, Joon Young

    2015-01-01

    Purpose To evaluate clinical features of infectious keratitis at a tertiary referral center in a rural area of Korea. Results This was a retrospective study. Medical records of 70 patients who were diagnosed with infectious keratitis and underwent corneal culture were reviewed. Data including demographics, predisposing factors, and microbiological profiles were collected and analyzed. Results Age distribution showed one peak at sixth and seventh decade, and 48 patients (68.6%) were ≥50 years old. The male to female ratio was 43 (61.4%):27 (38.6%). Ocular surface disease was the most frequently found (48 cases, 68.6%). Gram-positive bacteria were most common (ten patients, 66.7%), followed by Gram-negative bacteria (three patients, 20%) and fungi (two patients, 13.3%). In this study, 34.3% of patients were treated by at least one topical antimicrobial before culture. Patients who received topical therapy before culture showed positive culture rate of 16.7%, and patients who underwent corneal culture without topical antibiotics showed positive culture rate of 23.9%. However, there was no statistically significant difference between the two groups in positive culture rate (P=0.554). Conclusion The proportions of the elderly and male patients were higher than the young and female patients, respectively. Gram-positive bacteria were the most common pathogens, and ocular surface disease was the most common predisposing factor. PMID:26675320

  11. Prevalence and clinical features of Dientamoeba fragilis infections in patients suspected to have intestinal parasitic infection.

    PubMed

    Rayan, Hanan Z E; Ismail, Ola A; El Gayar, Eman K

    2007-08-01

    The present study was conducted to determine the prevalence and clinical features of dientamoebiasis in patients presumed to be infected with intestinal parasites. A total of 168 patients were examined for D. fragilis using microscopy (after Wheatley's trichrome staining) and culture (using modified Boeck and Drbohlav's medium). D. fragilis trophozoites were detected in 15 samples (8.9%) examined using trichrome staining and in 50 samples (29.8%) by culture method. Other enteric parasites were common in the study population as 48.8% of patients (82/168) were found harboring intestinal parasites. Blastocystis hominis was the most common, identified in 33.3% (56/168) of the samples. Giardia lamblia was detected in 17.9% (30/168) and E. histolytica/E. dispar in 11.9% (20/168). The symptoms most frequently encountered were diarrhea, abdominal pain and weight loss and fatigue. Diarrhea and abdominal pain were significantly more frequent in patients with dientamoebiasis compared to non pathogenic cases (P < 0.05). Diarrhea was 38.5% of patients infected with D. fragilis compared to 50% of patients infected with G. lamblia, while abdominal pain was encountered with D. fragilis in 41% compared to 33.3% with G. lamblia. These differences were insignificant (P > 0.05). PMID:17985591

  12. Systematic review of clinical features of suspected prostate cancer in primary care

    PubMed Central

    Young, Sheila-Mae; Bansal, Praveen; Vella, Emily T.; Finelli, Antonio; Levitt, Cheryl; Loblaw, Andrew

    2015-01-01

    Abstract Objective To systematically review the literature and provide an update and integration of existing peer-reviewed guidelines with recent systematic reviews and with primary studies related to the early recognition and management of prostate cancer in primary care. Data sources We searched MEDLINE and EMBASE for relevant articles. The quality of the evidence to support existing guideline recommendations and the consistency of recommendations with updated evidence were assessed. Applicability in a Canadian primary care setting was also evaluated. Study selection All studies conducted in the primary care setting that provided information on clinical features predictive of prostate cancer were included. Also, studies that assessed the accuracy of nomograms to predict prostate cancer were reviewed. Synthesis The findings suggest that lower urinary tract symptoms are not highly predictive of prostate cancer. However, evidence suggests that FPs might be good at discriminating between patients with and without prostate cancer using digital rectal examination and prostate-specific antigen testing. Nomograms might also be useful in assessing patients for aggressive prostate cancers. Conclusion The results of this review can be used to inform recommendations for referral for suspected prostate cancer in the primary care setting. They could also inform development of prostate cancer diagnostic assessment programs. PMID:25756146

  13. FUS-ERG gene fusion in isolated myeloid sarcoma showing uncommon clinical features

    PubMed Central

    Ueda, Ryosuke; Maruyama, Dai; Nomoto, Junko; Maeshima, Akiko M.; Fukuhara, Suguru; Kitahara, Hideaki; Miyamoto, Ken-ichi; Munakata, Wataru; Suzuki, Tatsuya; Taniguchi, Hirokazu; Kobayashi, Yukio; Tobinai, Kensei

    2016-01-01

    FUS-ERG gene fusion has not been reported in cases of myeloid sarcoma (MS), a subtype of acute myeloid leukemia involving extramedullary anatomic sites. Here, we report a case of a 48-year-old man with primary isolated MS of the anterior mediastinum, who later developed multiple extramedullary recurrences without bone marrow infiltration throughout the course. G-banding analysis of the cells in pericardial effusion at recurrence showed complex karyotypic abnormalities including t(16;21)(p11.2;q22). FUS break-apart fluorescent in situ hybridization analysis showed split signals in biopsy sections at initial diagnosis and recurrence. Reverse transcriptase polymerase chain reaction and direct sequencing demonstrated the presence of the FUS-ERG chimeric gene transcript. The patient underwent cord blood transplantation, but died of pneumonia on day 64. To our knowledge, this is the first report of isolated MS carrying FUS-ERG gene fusion. In future study, relationship between the fusion gene and uncommon clinical features should be investigated in isolated MS. PMID:26770812

  14. Dante and cardiology: Physiopathology and clinical features of cardiovascular diseases in the Middle Ages.

    PubMed

    Riva, M A; Cambioli, L; Castagna, F; Cianci, N; Varrenti, M; Giannattasio, C; Cesana, G

    2015-02-15

    Ancient non-medical texts can unexpectedly provide useful information on the development of knowledge about the heart and its diseases throughout history. The 750th anniversary of the birth of the Italian poet Dante Alighieri (1265-1321) provides a timely opportunity to analyze medical references in his works, in particular, focusing on literary descriptions that may be attributed to cardiovascular disorders. Dante's high level of medical knowledge, probably derived from his academic studies, is testified by his affiliation to the Florentine Guild of physicians and pharmacists. In all his works, the poet shows a deep interest for the heart. However, his anatomical and physiological knowledge of the circulatory system appears to be poor, probably due to it being based on theories and concepts brought forth by Aristotle and Galen, which were taught in medieval universities. Despite this, accurate descriptions of some symptoms (emotional syncope, orthopnea, dyspnea on exertion) and signs (ascites, paleness), which may be attributed to cardiovascular disorders, can be easily found in Dante's works, particularly in his masterpiece, the Divine Comedy. The literary and historical analysis of cardiovascular signs and symptoms allows us to assume that clinical features due to alterations of heart function were probably known by medieval physicians, but their etiology and pathophysiological mechanisms were not completely understood in that period. Historians of cardiology and clinicians should consider analysis of non-medical texts (including poetry) as an opportunity to better investigate the evolution of their discipline throughout the ages. PMID:25544198

  15. Clinical and morphologic features of acute, subacute and chronic cor pulmonale (pulmonary heart disease).

    PubMed

    Roberts, William Clifford; Shafii, Alexis E; Grayburn, Paul A; Ko, Jong Mi; Weissenborn, Matthew R; Rosenblatt, Randall L; Guileyardo, Joseph M

    2015-03-01

    Described are certain clinical and morphologic features of one patient with acute, another with subacute, and one with chronic cor pulmonale. All 3 had evidence of severe pulmonary hypertension. The patient with acute cor pulmonale 4 days after coronary bypass for unstable angina pectoris suddenly developed severe breathlessness with cyanosis and had fatal cardiac arrest and necropsy disclosed massive pulmonary embolism. The patient with subacute cor pulmonale had severe right-sided heart failure for 5 weeks and necropsy disclosed microscopic-sized neoplastic pulmonary emboli from a gastric carcinoma without parenchymal pulmonary metastases. The patient with chronic cor pulmonale had evidence of right-sided heart failure for years, the result of primary or idiopathic pulmonary hypertension almost certainly present from birth because the pattern of elastic fibers in the pulmonary trunk was that seen in newborns where the pressure in the pulmonary trunk and ascending aorta are similar. The patient with chronic cor pulmonale had plexiform pulmonary lesions indicative of irreversible pulmonary hypertension. Neither the acute nor the subacute patient had chronic pulmonary vascular changes. All 3 patients had dilated right ventricular cavities and non-dilated left ventricular cavities and only the patient with chronic cor pulmonale had right ventricular hypertrophy. PMID:25727086

  16. Clinical and mutational features of Vietnamese children with X-linked agammaglobulinemia

    PubMed Central

    2014-01-01

    Background X-linked agammaglobulinemia (XLA) is a primary immune deficiency characterized by recurrent bacterial infections and profoundly depressed serum immunoglobulin levels and circulating mature B cells. It is caused by mutations of the Bruton tyrosine kinase (BTK) gene and is the most common form of inherited antibody deficiency. To our knowledge, this is the first report of XLA from Vietnam. Methods We investigated the BTK gene mutations and clinical features of four unrelated Vietnamese children. Results The mean ages at onset and at diagnosis were 2.5 and 8 years, respectively. All patients had a medical history of otitis media, pneumonia, and septicemia at the time of diagnosis. Other infections reported included sinusitis, bronchiectasis, arthritis, skin infections, meningitis, and recurrent diarrhea. We identified one previously reported mutation (c.441G >A) and three novel mutations: two frameshifts (c.1770delG and c.1742 delG), and one nonsense (c.1249A >T). Conclusions The delayed diagnosis may be attributable to insufficient awareness of this rare disease on the background of frequent infections even in the immunocompetent pediatric population in Vietnam. Our results further support the importance of molecular genetic testing in diagnosis of XLA. PMID:24885015

  17. Variant alveolar lipoproteinosis: a syndrome with distinct clinical and pathological features.

    PubMed

    Nishino, Mich