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Sample records for melas clinical features

  1. 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

  2. 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

  3. 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.

  4. 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

  5. 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.

  6. 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.

  7. Melas Chasm (Enhanced Color)

    NASA Technical Reports Server (NTRS)

    1995-01-01

    This picture (centered at latitude 10 degrees S., longitude 74 degrees W.) shows much of Melas Chasm and a portion of Candor Chasm (upper right) in central Valles Marineris. Several interesting compositional units can be seen in the image: white materials (center-right) may consist of carbonates or some other evaporite deposit, pinkish materials (upper right) may be relatively rich in crystalline iron oxides, and greenish materials (lower left) correspond to dark sand dunes. Viking Orbiter Picture Numbers 279B41 (violet), 279B49 (green), and 279B51 (red) at 257 m/pixel resolution. Picture width is 261 km. North is 50 degrees clockwise from top.

  8. 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.

  9. 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.

  10. 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.

  11. Clinical features of gastroenteropancreatic tumours

    PubMed Central

    Czarnywojtek, Agata; B?czyk, Maciej; Ziemnicka, Katarzyna; Fischbach, Jakub; Wrotkowska, El?bieta; Rucha?a, 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

  12. 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 .

  13. CLINICAL AND MOLECULAR PATHOLOGICAL FEATURES OF SEVERE

    E-print Network

    Campbell, Kevin P.

    as a unique form of muscular dystrophy (MD) that resem- bles X-linked Duchenne type but affects both sexes Campbell Severe childhood autosomal recessive muscular dystrophy (SCARMD) has recently been identifiedCLINICAL AND MOLECULAR PATHOLOGICAL FEATURES OF SEVERE CHILDHOOD AUTOSOMAL RECESSIVE MUSCULAR

  14. Melas Chasma, Day and Night.

    NASA Technical Reports Server (NTRS)

    2002-01-01

    This image is a mosaic of day and night infrared images of Melas Chasma taken by the camera system on NASA's Mars Odyssey spacecraft. The daytime temperature images are shown in black and white, superimposed on the martian topography. A single nighttime temperature image is superimposed in color. The daytime temperatures range from approximately -35 degrees Celsius (-31 degrees Fahrenheit) in black to -5 degrees Celsius (23 degrees Fahrenheit) in white. Overlapping landslides and individual layers in the walls of Melas Chasma can be seen in this image. The landslides flowed over 100 kilometers (62 miles) across the floor of Melas Chasma, producing deposits with ridges and grooves of alternating warm and cold materials that can still be seen. The temperature differences in the daytime images are due primarily to lighting effects, where sunlit slopes are warm (bright) and shadowed slopes are cool (dark). The nighttime temperature differences are due to differences in the abundance of rocky materials that retain their heat at night and stay relatively warm (red). Fine grained dust and sand (blue) cools off more rapidly at night. These images were acquired using the thermal infrared imaging system infrared Band 9, centered at 12.6 micrometers.

    Jet Propulsion Laboratory, a division of the California Institute of Technology in Pasadena, manages the 2001 Mars Odyssey mission for NASA's Office of Space Science in Washington, D.C. Investigators at Arizona State University in Tempe, the University of Arizona in Tucson and NASA's Johnson Space Center, Houston, operate the science instruments. Additional science partners are located at the Russian Aviation and Space Agency and at Los Alamos National Laboratories, New Mexico. Lockheed Martin Astronautics, Denver, is the prime contractor for the project, and developed and built the orbiter. Mission operations are conducted jointly from Lockheed Martin and from JPL. Aviation and Space Agency and at Los Alamos National Laboratories, New Mexico. Lockheed Martin Astronautics, Denver, is the prime contractor for the project, and developed and built the orbiter. Mission operations are conducted jointly from Lockheed Martin and from JPL.

  15. Melas Chasm, Approximately Natural Color

    NASA Technical Reports Server (NTRS)

    1995-01-01

    This picture (centered at latitude 10 degrees S., longitude 74 degrees W.) shows much of Melas Chasm and a portion of Candor Chasm (upper right) in central Valles Marineris. Several interesting compositional units can be seen in the enhanced-color image (PIA00156): white materials (center-right) may consist of carbonates or some other evaporite deposit, pinkish materials (upper right) may be relatively rich in crystalline iron oxides, and greenish materials (lower left) correspond to dark sand dunes. Viking Orbiter Picture Numbers 279B41 (violet), 279B49 (green), and 279B51 (red) at 257 m/pixel resolution. Picture width is 261 km. North is 50 degrees clockwise from top.

  16. 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

  17. 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

  18. 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

  19. 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

  20. The clinical features of rheumatoid arthritis.

    PubMed

    Grassi, W; De Angelis, R; Lamanna, G; Cervini, C

    1998-05-01

    Rheumatoid arthritis (RA) is a chronic inflammatory disease characterized by progressive damage of synovial-lined joints and variable extra-articular manifestations. Tendon and bursal involvement are frequent and often clinically dominant in early disease. RA can affect any joint, but it is usually found in metacarpophalangeal, proximal interphalangeal and metatarsophalangeal joints, as well as in the wrists and knee. Articular and periarticular manifestations include joint swelling and tenderness to palpation, with morning stiffness and severe motion impairment in the involved joints. The clinical presentation of RA varies, but an insidious onset of pain with symmetric swelling of small joints is the most frequent finding. RA onset is acute or subacute in about 25% of patients, but its patterns of presentation also include palindromic onset, monoarticular presentation (both slow and acute forms), extra-articular synovitis (tenosynovitis, bursitis), polymyalgic-like onset, and general symptoms (malaise, fatigue, weight loss, fever). The palindromic onset is characterized by recurrent episodes of oligoarthritis with no residual radiologic damage, while the polymyalgic-like onset may be clinically indistinguishable from polymyalgia rheumatica in elderly subjects. RA is characteristically a symmetric erosive disease. Although any joint, including the cricoarytenoid joint, can be affected, the distal interphalangeal, the sacroiliac, and the lumbar spine joints are rarely involved. The clinical features of synovitis are particularly apparent in the morning. Morning stiffness in and around the joints, lasting at least 1 h before maximal improvement is a typical sign of RA. It is a subjective sign and the patient needs to be carefully informed as to the difference between pain and stiffness. Morning stiffness duration is related to disease activity. Hand involvement is the typical early manifestation of rheumatoid arthritis. Synovitis involving the metacarpophalangeal, proximal interphalangeal and wrist joints causes a characteristic tender swelling on palpation with early severe motion impairment and no radiologic evidence of bone damage. Fatigue, feveret, weight loss, and malaise are frequent clinical signs which can be associated with variable manifestations of extra-articular involvement such as rheumatoid nodules, vasculitis, hematologic abnormalities, Felty's syndrome, and visceral involvement. Although there is no laboratory test to exclude or prove the diagnosis of rheumatoid arthritis, several laboratory abnormalities can be detected. Abnormal values of the tests for evaluation of systemic inflammation are the most typical humoral features of RA. These include: erythrocyte sedimentation rate, acute phase proteins and plasma viscosity. Erythrocyte sedimentation rate and C-reactive protein provide the best information about the acute phase response. The C-reactive protein is strictly correlated with clinical assessment and radiographic changes. Plain film radiography is the standard investigation to assess the extent of anatomic changes in rheumatoid arthritis patients. The radiographic features of the hand joints in early disease are characterized by soft tissue swelling and mild juxtaarticular osteoporosis. In the the past 10 years, ultrasonography has gained acceptance for studying joint, tendon and bursal involvement in RA. It may improve the early clinical assessment and the follow-up of these patients, showing such details as synovial thickening even within finger joints. Other imaging techniques, such as magnetic resonance, computed tomography and scintigraphy may provide useful information about both the features and the extent for anatomic damage in selected rheumatoid arthritis patients. The natural history of the disease is poorly defined; its clinical course is fluctuating and the prognosis unpredictable. RA is an epidemiologically relevant cause of disability. An adequate early treatment of RA may alter the diseas PMID:9652497

  1. Biochemical and clinical features of hereditary hyperprolinemia.

    PubMed

    Mitsubuchi, Hiroshi; Nakamura, Kimitoshi; Matsumoto, Shirou; Endo, Fumio

    2014-08-01

    There are two classifications of hereditary hyperprolinemia: type I (HPI) and type II (HPII). Each type is caused by an autosomal recessive inborn error of the proline metabolic pathway. HPI is caused by an abnormality in the proline-oxidizing enzyme (POX). HPII is caused by a deficiency of ?-1-pyrroline-5-carboxylate (P5C) dehydrogenase (P5CDh). The clinical features of HPI are unclear. Nephropathy, uncontrolled seizures, mental retardation or schizophrenia have been reported in HPI, but a benign phenotype without neurological problems has also been reported. The clinical features of HPII are also unclear. In addition, the precise incidences of HPI and HPII are unknown. Only two cases of HPI and one case of HPII have been identified in Japan through a questionnaire survey and by a study of previous reports. This suggests that hyperprolinemia is a very rare disease in Japan, consistent with earlier reports in Western countries. The one case of HPII found in Japan was diagnosed in an individual with influenza-associated encephalopathy. This suggests that HPII might reduce the threshold for convulsions, thereby increasing the sensitivity of individuals with influenza-associated encephalopathy. The current study presents diagnostic criteria for HPI and HPII, based on plasma proline level, with or without measurements of urinary P5C. In the future, screening for HPI and HPII in healthy individuals, or patients with relatively common diseases such as developmental disabilities, epilepsy, schizophrenia or behavioral problems will be important. PMID:24931297

  2. Biochemical and clinical features of hereditary hyperprolinemia

    PubMed Central

    Mitsubuchi, Hiroshi; Nakamura, Kimitoshi; Matsumoto, Shirou; Endo, Fumio

    2014-01-01

    There are two classifications of hereditary hyperprolinemia: type I (HPI) and type II (HPII). Each type is caused by an autosomal recessive inborn error of the proline metabolic pathway. HPI is caused by an abnormality in the proline-oxidizing enzyme (POX). HPII is caused by a deficiency of ?-1-pyrroline-5-carboxylate (P5C) dehydrogenase (P5CDh). The clinical features of HPI are unclear. Nephropathy, uncontrolled seizures, mental retardation or schizophrenia have been reported in HPI, but a benign phenotype without neurological problems has also been reported. The clinical features of HPII are also unclear. In addition, the precise incidences of HPI and HPII are unknown. Only two cases of HPI and one case of HPII have been identified in Japan through a questionnaire survey and by a study of previous reports. This suggests that hyperprolinemia is a very rare disease in Japan, consistent with earlier reports in Western countries. The one case of HPII found in Japan was diagnosed in an individual with influenza-associated encephalopathy. This suggests that HPII might reduce the threshold for convulsions, thereby increasing the sensitivity of individuals with influenza-associated encephalopathy. The current study presents diagnostic criteria for HPI and HPII, based on plasma proline level, with or without measurements of urinary P5C. In the future, screening for HPI and HPII in healthy individuals, or patients with relatively common diseases such as developmental disabilities, epilepsy, schizophrenia or behavioral problems will be important. PMID:24931297

  3. [Clinical features of postinfectious chronic cough].

    PubMed

    Fujimori, K; Suzuki, E; Arakawa, M

    1997-05-01

    Postinfectious cough has been drawing attention as a factor involved in the etiology of chronic cough in the United States. In Japan, clinical features of postinfectious chronic cough (PICC) have not been described in detail. We investigated 22 patients with PICC diagnosed by the established criteria (Jpn. J. Allergol. 1995; 44: 1418). All patients were nonsmokers and none received ACE inhibitors. None had a history of atopy or sinus diseases. There were four men and 18 women with a median age of 65 years. These 22 patients underwent clinical examinations including chest roentgenograms, respiratory function tests, eosinophil counts in venous blood, serum IgE titers, antibody titers to Mycoplasma pneumoniae, sputum cytologic findings taken from ten patients, and histological features of bronchial biopsy specimens obtained from two patients; all findings were within normal limits. Clinical course of cough in 20 of the patients with PICC was evaluated using a cough diary. One patient did not keep a cough diary. Ten patients improved with dextromethorphan hydrobromide (D) and oxatomide (O). Three of the remaining 9 patients improved with Bakumondo-to (B) only, 4 with D+O+B, and 2 with D+O+B+ozagrel hydrochloride. The duration of cough before treatment showed a significant correlation with the time from the start of treatment to recovery (r = 0.47, p < 0.05). These results indicate that PICC tends to occur in elderly women and to improve with treatment combining with D, O, and B. We hope to establish a standard therapy for postinfectious chronic cough. PMID:9232911

  4. 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

  5. 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.

  6. ?-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

  7. Endobronchial Tuberculosis : Clinical and Bronchofiberscopic Features

    PubMed Central

    Lee, Jung Hee; Lee, Dong Hoo; Park, Sung Soo

    1986-01-01

    The clinical and bronchofiberscopic features of endobronchial tuberculosis in 53 patients were investigated. These patients comprised 4.7% of some 1,132 subjects who had undergone flexible bronchofiberscopic examinations. The peak incidence occurred in the third and fourth decades, a secondary peak appeared in the seventh decade, a five to six times higher incidence was noted in the female than in the male. Staining for acid-fast bacilli was positive in 67.9% of the patients sputums and or specimens of bronchial washings. A barking cough was the most common chief complaint. Next in order were chest pain, production of mucus, dyspnea, hemoptysis, and fever. Twenty-three out of 53 patients showed abnormalities on their chest films. The flexible bronchoscope revealed tuberculous lesions characterized by mucosal swelling or edema, redness, erosion, ulceration, hypertrophy with luminal narrowing, and cicartical stenosis due to whitish pseudomembrane. The left lower and upper bronchi were involved most frequently. The majority of the patients who were suffering from a barking cough were resistant to antitussive agents but were responsive to steroid combination chemotherapy with antituberculous drugs. In conclusion, the bronchofiberscopic approach is not only helpful in the differentiation of endobronchial tuberculosis from bronchogenic cancer but it can also be used for relieving atelectasis. PMID:3154619

  8. Vertebral osteomyelitis: clinical features and diagnosis.

    PubMed

    Eren Gök, S; Kaptano?lu, E; Celikba?, A; Ergönül, O; Baykam, N; Ero?lu, M; Dokuzo?uz, B

    2014-10-01

    We aimed to describe clinical and diagnostic features of vertebral osteomyelitis for differential diagnosis and treatment. This is a prospective observational study performed between 2002 and 2012 in Ankara Numune Education and Research Hospital in Ankara, Turkey. All the patients with vertebral osteomyelitis were followed for from 6 months to 3 years. In total, 214 patients were included in the study, 113 out of 214 (53%) were female. Out of 214 patients, 96 (45%) had brucellar vertebral osteomyelitis (BVO), 63 (29%) had tuberculous vertebral osteomyelitis (TVO), and 55 (26%) had pyogenic vertebral osteomyelitis (PVO). Mean number of days between onset of symptoms and establishment of diagnosis was greater with the patients with TVO (266 days) than BVO (115 days) or PVO (151 days, p <0.001). In blood cultures, Brucella spp. were isolated from 35 of 96 BVO patients (35%). Among 55 PVO patients, the aetiological agent was isolated in 11 (20%) patients. For tuberculin skin test >15 mm, sensitivity was 0.66, specificity was 0.97, positive predictive value was 0.89, negative predictive value was 0.88, and receiver operating characteristics area was 0.8. Tuberculous and brucellar vertebral osteomyelitis remained the leading causes of vertebral osteomyelitis with delayed diagnosis. In differential diagnosis of vertebral osteomyelitis, consumption of unpasteurized cheese, dealing with husbandry, sweating, arthralgia, hepatomegaly, elevated alanine transaminase, and lumbar involvement in magnetic resonance imaging were found to be predictors of BVO, thoracic involvement in magnetic resonance imaging and tuberculin skin test > 15 mm were found to be predictors of TVO, and history of spinal surgery and leucocytosis were found to be predictors of PVO. PMID:24766063

  9. Ragam: Durbar (22nd Mela Janyam)

    E-print Network

    Kalyanaraman, Shivkumar

    CHALAMELA Ragam: Durbar (22nd Mela Janyam) Talam: Adi Arohanam: S R2 M1 P D2 N2 S || Avarohanam: S N2 D2 P M1 R2 G2 G2 R2 S || Composer: Thiruvotriyur Thyagaiyyer Notation Courtesy: Apoorva shower your Grace upon this one who has ardently believed in you. Pallavi: P M R , G , G , R S R , N R

  10. 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…

  11. [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

  12. 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

  13. 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

  14. Clinical features and diagnosis of hairy cell leukemia.

    PubMed

    Quest, Graeme R; Johnston, James B

    2015-12-01

    Significant advances in the diagnosis and treatment of hairy cell leukemia (HCL) have recently been made. Improved distinction of HCL from its mimics though clinical presentations, morphologic and immunophenotypic features, and more recently molecular biology, has highlighted marked differences in treatment response and overall prognosis between these disorders. As our understanding of the unique pathobiology of HCL has grown, exciting new avenues of treatment as well as insight into immune function have been obtained. This review provides an overview of the clinical features and diagnostic attributes of HCL, with contrast to other mature B cell lymphoproliferative disorders with overlapping features. PMID:26614896

  15. Potential MER Landing Site in Melas Chasma

    NASA Technical Reports Server (NTRS)

    Weitz, C. M.; Parker, Timothy J.; Anderson, F. Scott

    2001-01-01

    We have selected one area in Valles Marineris as a potential landing site for the Mars Exploration Rover (MER) mission. After 30 years of analyses, the formation of the Valles Marineris system of troughs and its associated deposits still remains an enigma. Understanding all aspects of the Valles Marineris would significantly contribute to deciphering the internal and external history of Mars. A landing site within Melas Chasma could provide insight into both the formation of Valles Marineris and the composition and origin of the interior layered deposits (ILDs). The ILDs have been proposed as: (1) sedimentary deposits formed in lakes mass wasted material from the walls; (3) remnants of the wall rock; (4) carbonate deposits; (5) aeolian deposits; and (6) volcanic. More recently, Malin and Edgett suggest that the fine-scale, rhythmic layering seen in the interior deposits, as well as other layered deposits in craters, supports a sedimentary origin. 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 a landing site for the MER mission on an exposure of interior deposits in western Melas Chasma. Either MER-A and MER-B could land at this same location.

  16. 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

  17. 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.

  18. Ontology-Guided Feature Engineering for Clinical Text Classification

    PubMed Central

    Garla, Vijay N.; Brandt, Cynthia

    2012-01-01

    In this study we present novel feature engineering techniques that leverage the biomedical domain knowledge encoded in the Unified Medical Language System (UMLS) to improve machine-learning based clinical text classification. Critical steps in clinical text classification include identification of features and passages relevant to the classification task, and representation of clinical text to enable discrimination between documents of different classes. We developed novel information-theoretic techniques that utilize the taxonomical structure of the Unified Medical Language System (UMLS) to improve feature ranking, and we developed a semantic similarity measure that projects clinical text into a feature space that improves classification. We evaluated these methods on the 2008 Integrating Informatics with Biology and the Bedside (I2B2) obesity challenge. The methods we developed improve upon the results of this challenge’s top machine-learning based system, and may improve the performance of other machine-learning based clinical text classification systems. We have released all tools developed as part of this study as open source, available at http://code.google.com/p/ytex PMID:22580178

  19. 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…

  20. 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…

  1. 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

  2. Hereditary Renal Cell Carcinoma Syndromes: Clinical, Pathologic, and Genetic Features.

    PubMed

    Adeniran, Adebowale J; Shuch, Brian; Humphrey, Peter A

    2015-12-01

    Renal cell carcinomas associated with syndromes of a heritable nature account for about 4% of all renal cell carcinomas. They are characterized by an earlier age of onset, and are often multicentric and bilateral. Some of these patients may fit into well-characterized kidney cancer syndromes, while many more may have a genetic component that is not fully recognized or understood. The presence of extrarenal clinical features may suggest a specific renal tumor susceptibility syndrome. Moreover, each syndrome is associated with specific renal pathology findings. Recognition of individuals and families with a high risk of renal neoplasia is important so that surveillance for renal tumors may be initiated. This manuscript reviews the clinical, pathological, and molecular features of hereditary renal cell carcinoma syndromes with emphasis on the morphologic features of these tumors and the molecular mechanisms of hereditary renal tumorigenesis. PMID:26559379

  3. 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

  4. 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.

  5. Clinical features of body dysmorphic disorder in adolescents and adults

    PubMed Central

    Phillips, Katharine A.; Didie, Elizabeth R.; Menard, William; Pagano, Maria E.; Fay, Christina; Weisberg, Risa B.

    2006-01-01

    Body dysmorphic disorder (BDD) usually begins during adolescence, but its clinical features have received little investigation in this age group. Two hundred individuals with BDD (36 adolescents; 164 adults) completed interviewer-administered and self-report measures. Adolescents were preoccupied with numerous aspects of their appearance, most often their skin, hair, and stomach. Among the adolescents, 94.3% reported moderate, severe, or extreme distress due to BDD, 80.6% had a history of suicidal ideation, and 44.4% had attempted suicide. Adolescents experienced high rates and levels of impairment in school, work, and other aspects of psychosocial functioning. Adolescents and adults were comparable on most variables, although adolescents had significantly more delusional BDD beliefs and a higher lifetime rate of suicide attempts. Thus, adolescents with BDD have high levels of distress and rates of functional impairment, suicidal ideation, and suicide attempts. BDD’s clinical features in adolescents appear largely similar to those in adults. PMID:16499973

  6. 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

  7. 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

  8. 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

  9. 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.

  10. 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

  11. 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

  12. Clinical features and pharmacotherapy of childhood monoamine neurotransmitter disorders.

    PubMed

    Ng, J; Heales, S J R; Kurian, M A

    2014-08-01

    Childhood neurotransmitter disorders are increasingly recognised as an expanding group of inherited neurometabolic syndromes. They are caused by disturbance in synthesis, metabolism, and homeostasis of the monoamine neurotransmitters, including the catecholamines (dopamine, norepinephrine, and epinephrine) and serotonin. Disturbances in monoamine neurotransmission will lead to neurological symptoms that often overlap with clinical features of other childhood neurological disorders (such as hypoxic ischaemic encephalopathy, cerebral palsy, other movement disorders, and paroxysmal conditions); consequently, neurotransmitter disorders are frequently misdiagnosed. The diagnosis of neurotransmitter disorders is made through detailed clinical assessment, analysis of cerebrospinal fluid neurotransmitters, and further supportive diagnostic investigations. Early and accurate diagnosis of neurotransmitter disorders is important, as many are amenable to therapeutic intervention. The principles of treatment for monoamine neurotransmitter disorders are mainly directly derived from understanding these metabolic pathways. In disorders characterized by enzyme deficiency, we aim to increase monoamine substrate availability, boost enzyme co-factor levels, reduce monoamine breakdown, and replace depleted levels of monoamines with pharmacological analogs as clinically indicated. Most monoamine neurotransmitter disorders lead to reduced levels of central dopamine and/or serotonin. Complete amelioration of motor symptoms is achievable in some disorders, such as Segawa's syndrome, and, in other conditions, significant improvement in quality of life can be attained with pharmacotherapy. In this review, we provide an overview of the clinical features and current treatment strategies for childhood monoamine neurotransmitter disorders. PMID:25011953

  13. 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

  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. Hypertrophic cardiomyopathy in infants: clinical features and natural history

    SciTech Connect

    Maron, B.J.; Tajik, A.J.; Ruttenberg, H.D.; Graham, T.P.; Atwood, G.F.; Victorica, B.E.; Lie, J.T.; Roberts, W.C.

    1982-01-01

    The clinical and morphologic features of hypertrophic cardiomyopathy in 20 patients recognized as having cardiac disease in the first year of life are described. Fourteen of these 20 infants were initially suspected of having heart disease solely because a heart murmur was identified. However, the infants showed a variety of clinical findings, including signs of marked congestive heart failure (in the presence of nondilated ventricular cavities and normal or increased left ventricular contractility) and substantial cardiac enlargement on chest radiograph. Other findings were markedly different from those usually present in older children and adults with hypertrophic cardiomyopathy (e.g., right ventricular hypertrophy on the ECG and cyanosis). Consequently, in 14 infants, the initial clinical diagnosis was congenital cardiac malformation other than hypertrophic cardiomyopathy. The clinical course was variable in these patients, but the onset of marked congestive heart failure in the first year of life appeared to be an unfavorable prognostic sign; nine of the 11 infants with congestive heart failure died within the first year of life. In infants with hypertrophic cardiomyopathy, unlike older children and adults with this condition, sudden death was less common (two patients) than death due to progressive congestive heart failure.

  16. MELA: Monitoring and Analyzing Elasticity of Cloud Services

    E-print Network

    Dustdar, Schahram

    MELA: Monitoring and Analyzing Elasticity of Cloud Services Daniel Moldovan, Georgiana Copil, Hong of applications to be exposed as elastic cloud services. While the number of such services has rapidly increased, there is a lack of techniques for supporting cross-layered multi-level monitoring and analysis of elastic service

  17. Clinical features and outcomes of microscopic polyangiitis in Korea.

    PubMed

    Oh, Ji Seon; Lee, Chang-Keun; Kim, Yong Gil; Nah, Seong-Su; Moon, Hee-Bom; Yoo, Bin

    2009-04-01

    Microscopic polyangiitis (MPA) is a systemic vasculitis affecting small vessels. To determine the clinical features and outcomes of MPA in Korean patients, we retrospectively reviewed the medical records of patients diagnosed with MPA at a single medical center in Korea between 1989 and 2006. The 18 patients who met the Chapel Hill criteria for MPA had a mean (+/-SD) age at the time of diagnosis of 62.4+/-12.7 yr. Renal manifestations and general symptoms were the most common features of MPA, with lung involvement also very common. Antineutrophil cytoplasmic antibodies (ANCA) were present in 17 of the 18 patients (94%). Of 17 patients treated with steroids and cyclophosphamide, 11 (65%) had stable or improved course. One patient treated with steroids without cyclophosphamide showed disease progression. Ten of the 18 patients (56%) died at a median follow-up of 8 months. MPA in Korean patients was distinguished by a higher rate of lung involvement, especially alveolar hemorrhage, which was the leading cause of death in our patients. Korean patients were also older at MPA onset and were more likely positive for ANCA. Other overall clinical manifestations did not differ significantly. PMID:19399269

  18. Clinical features and course of generalized pustular psoriasis in Korea.

    PubMed

    Jin, Hyunju; Cho, Hyun-Ho; Kim, Won-Jeong; Mun, Je-Ho; Song, Margaret; Kim, Hoon-Soo; Ko, Hyun-Chang; Kim, Moon-Bum; Kim, Hyojin; Kim, Byung-Soo

    2015-07-01

    The clinical course of generalized pustular psoriasis (GPP) is variable and unpredictable. Sufficient data on the clinical course of the disease has not been reported due to its rarity. To investigate the clinical features and course of GPP according to its subtypes, medical records of patients diagnosed with GPP from 2002 to 2012 at two tertiary hospitals were reviewed. The data included patient demographics, associated symptoms, aggravating factors, patterns of relapse and prognosis. Thirty-three patients with GPP were included in our study, with a mean age of 45.6 years and a male : female ratio of 1:1.2. Patients were categorized based on the following subtypes: acute GPP, 21 (63.6%); GPP of pregnancy, two (6.1%); juvenile GPP, three (9.1%); and annular GPP, seven (21.2%). In the acute GPP population, skin lesions cleared within 2 months in 11 (73.3%) patients, and six (40.0%) of these had no relapse. Severe complications, abortion or death, were observed in two patients (100.0%) with GPP of pregnancy. Nineteen (76.0%) of the GPP patients experienced persistence or relapse of skin lesions. The patterns of skin lesions upon relapse included plaques in six patients (31.6%), pustules in eight patients (42.1%), and plaques and pustules in five patients (26.3%). Among acute GPP patients, 16.7% of patients with no relapse had a history of plaque psoriasis. However, 77.8% of patients with persistence and relapse in their clinical course had a history of plaque psoriasis. In conclusion, our study presents the detailed clinical course of GPP by subtype in Korean patients. PMID:25819215

  19. 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

  20. 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

  1. 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

  2. Multifocal Lymphangioendotheliomatosis With Thrombocytopenia: Clinical Features and Response to Sirolimus.

    PubMed

    Droitcourt, Catherine; Boccara, Olivia; Fraitag, Sylvie; Favrais, Géraldine; Dupuy, Alain; Maruani, Annabel

    2015-08-01

    Multifocal lymphangioendotheliomatosis with thrombocytopenia (MLT) is a recently described glucose transporter 1-negative multifocal vascular disorder with significant morbidity and mortality. However, data are lacking on the clinical spectrum, long-term prognosis, and treatment of MLT. It is often confused with multifocal infantile hemangioma, but the conditions must be differentiated for appropriate assessment and therapeutic management. Treatments for MLT have been disappointing, and the treatments classically used for infantile hemangioma are often ineffective. We report 3 newborn cases featuring various clinical and biological phenotypes of MLT: 1 patient had severe brain involvement and died early; another had no thrombocytopenia; and the third had nearly no skin involvement. Histologically, all were negative for glucose transporter 1 and positive for the lymphatic marker lymphatic vessel endothelial hyaluronan receptor 1 or D2-40 (?38-kDa O-linked transmembrane sialoglycoprotein podoplanin). Two cases with severe gastrointestinal bleeding were treated with sirolimus 0.1 mg/k per day, which was efficient after the first month of treatment. MLT clinically presents in various forms, and when complicated by widespread or severe extracutaneous involvement, initial aggressive therapeutic intervention is justified. The pathogenesis of MLT remains unclear, but lymphatic differentiation is widely acknowledged. Because of its antiangiogenic properties, including anti-lymphangiogenesis, sirolimus offers an adequate and targeted therapeutic approach for MLT. PMID:26148948

  3. Genetic Epidemiology, Hematological and Clinical Features of Hemoglobinopathies in Iran

    PubMed Central

    Rahimi, Zohreh

    2013-01-01

    There is large variation in the molecular genetics and clinical features of hemoglobinopathies in Iran. Studying structural variants of hemoglobin demonstrated that the ?-chain variants of hemoglobin S and D-Punjab are more prevalent in the Fars (southwestern Iran) and Kermanshah (western Iran) provinces, respectively. Also, ?-chain variants of Hb Q-Iran and Hb Setif are prevalent in western Iran. The molecular basis and clinical severity of thalassemias are extremely heterogenous among Iranians due to the presence of multiethnic groups in the country. ?-Thalassemia is more prevalent in northern and southern Iran. Among 52 different ?-thalassemia mutations that have been identified among Iranian populations, IVSII-1 G:A is the most frequent mutation in most parts of the country. The presence of IVS I-5 G:C mutation with high frequency in southeastern Iran might reflect gene flow from neighboring countries. A wide spectrum of ?-thalassemia alleles has been detected among Iranians with ??3.7?kb as the most prevalent ?-thalassemia mutation. The prevention program of thalassemia birth in Iran has reduced the birth rate of homozygous ?-thalassemia since the implementation of the program in 1997. In this review genetic epidemiology, clinical and hematological aspects of hemoglobinopathies, and the prevention programs of ?-thalassemia in Iran will be discussed. PMID:23853772

  4. [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

  5. 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

  6. 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

  7. 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

  8. Clinical Features in Patients with Long-Lasting Macrophagic Myofasciitis

    PubMed Central

    Rigolet, Muriel; Aouizerate, Jessie; Couette, Maryline; Ragunathan-Thangarajah, Nilusha; Aoun-Sebaiti, Mehdi; Gherardi, Romain Kroum; Cadusseau, Josette; Authier, François Jérôme

    2014-01-01

    Macrophagic myofasciitis (MMF) is an emerging condition characterized by specific muscle lesions assessing abnormal long-term persistence of aluminum hydroxide within macrophages at the site of previous immunization. Affected patients usually are middle-aged adults, mainly presenting with diffuse arthromyalgias, chronic fatigue, and marked cognitive deficits, not related to pain, fatigue, or depression. Clinical features usually correspond to that observed in chronic fatigue syndrome/myalgic encephalomyelitis. Representative features of MMF-associated cognitive dysfunction include dysexecutive syndrome, visual memory impairment, and left ear extinction at dichotic listening test. Most patients fulfill criteria for non-amnestic/dysexecutive mild cognitive impairment, even if some cognitive deficits appear unusually severe. Cognitive dysfunction seems stable over time despite marked fluctuations. Evoked potentials may show abnormalities in keeping with central nervous system involvement, with a neurophysiological pattern suggestive of demyelination. Brain perfusion SPECT shows a pattern of diffuse cortical and subcortical abnormalities, with hypoperfusions correlating with cognitive deficiencies. The combination of musculoskeletal pain, chronic fatigue, and cognitive disturbance generates chronic disability with possible social exclusion. Classical therapeutic approaches are usually unsatisfactory making patient care difficult. PMID:25506338

  9. 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

  10. 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

  11. 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

  12. 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

  13. Clinical features and outcome of acute hepatitis B in pregnancy

    PubMed Central

    2014-01-01

    Background The impact of pregnancy on the clinical course of acute hepatitis B (AHB) is still largely unclear, mainly because most studies have not included matched controls. This study was conducted to investigate the clinical features and outcome of AHB in pregnancy using matched controls. Methods Consecutive AHB inpatients who were admitted to Jinan Infectious Disease Hospital, Jinan, between January 2006 and December 2010 were evaluated and followed. Demographic data, clinical manifestations, and results of laboratory tests were compared between pregnant patients and age and sex matched non-pregnant patients at admission, discharge, and final follow-up. Results A total of 618 AHB inpatients were identified during the study period. 22 pregnant patients and 87 age and sex matched non-pregnant patients were enrolled in this study. Prodromal fever was less common (0% vs. 20.7%, P?=?0.02), serum alanine aminotransferase levels were significantly lower, and HBsAg?>?250 IU/mL rate and serum bilirubin levels were significantly higher in pregnant patients than in non-pregnant patients. After a mean (range) of 7(5.2-8.3) months follow-up, 18.2% pregnant patients and 4.6% non-pregnant patients were still HBsAg positive (P?=?0.03). For pregnant patients, the relative risk (95% confidence interval) of HBsAg positive at the end of follow-up was 4.6 (1.1-20.2). The median (95% confidence interval) days of HBsAg seroclearance form disease onset in pregnant and non-pregnant patients were 145.0 (110.5-179.5) and 80.0 (62.6-97.4), respectively. Conclusions The HBsAg loss and seroconversion were delayed and lower in pregnant patients. Pregnancy might be a possible risk of chronicity following acute HBV infection. PMID:24993389

  14. 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

  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. 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

  18. 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

  19. 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 symtoms. 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 inflammtory-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 protentially progessive 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

  20. 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

  1. Sublacustrine depositional fans in southwest Melas Chasma Joannah M. Metz,1

    E-print Network

    Grotzinger, John P.

    -bottom sediments, terraced alluvial fans inferred to have formed in response to lake-level rise, and deltasSublacustrine depositional fans in southwest Melas Chasma Joannah M. Metz,1 John P. Grotzinger,1. [1] Two depositional fan complexes have been identified on the floor of southwest Melas Chasma

  2. Graft rejection in pediatric penetrating keratoplasty: Clinical features and outcomes

    PubMed Central

    Kusumesh, Rakhi; Vanathi, Murugesan

    2015-01-01

    Purpose: Early presentation of rejection facilitates early initiation of treatment which can favor a reversible rejection and better outcome. We analyzed the incidence, clinical features including rejection-treatment period and outcomes following graft rejection in our series of pediatric corneal graft. Materials and Methods: Case records of pediatric penetrating keratoplasty (PK) were reviewed retrospectively, and parameters noted demographic profile, indication of surgery, surgery-rejection period, rejection-treatment interval, graft outcome, and complications. Results: PK was performed in 66 eyes of 66 children <12 years, with an average follow-up of 21.12 ± 11.36 months (range 4-48 month). The median age at the time of surgery was 4.0 years (range 2 months to 12 years). Most of the children belonged to rural background. Scarring after keratitis (22, 33.4%) was the most common indication. Graft rejection occurred in eight eyes (12.12%) (acquired nontraumatic - 3, congenital hereditary endothelial dystrophy [CHED] - 2, nonCHED - 1, congenital glaucoma - 1, regraft - 1). The mean surgery-rejection period was 10.5 ± 7.3 months and mean rejection-treatment interval was 10.9 ± 7.02 days. Conclusion: This study showed irreversible graft rejection was the leading cause of graft failure of pediatric PK. Though, the incidence (12.1%) of graft rejection in current study was not high, but the percentage of reversal (25%) was one of the lowest in literature because of delayed presentation and longer interval between corneal graft rejection and treatment. In addition, categorization of the type of graft rejection was very difficult and cumbersome in pediatric patients. PMID:25709272

  3. 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

  4. 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

  5. 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

  6. Epidemiological Features of Bronchiolitis in the Pediatric Clinic of Clinical center of Sarajevo University

    PubMed Central

    Bakalovic, Ganimeta; Dzinovic, Amra; Baljic, Rusmir; Dizdar, Selma; Selimovic, Amina

    2015-01-01

    Objective: To present the epidemiological features of bronchiolitis in a one-year period in patients of Pediatric Clinic, Clinical Centre of Sarajevo University. Introduction: Bronchiolitis is the most common respiratory infection of early infant age. The disease is one the most common reason for hospitalization of children under the age of six months. The disease is characterized by occurrences in the winter season November–March. For daily diagnosing of severe forms of bronchiolitis as a clinical syndrome, often sufficient are the knowledge of the epidemiological data, age of the patient, clinical examination and insight into the risk factors. Patients and methods: The history of the disease in 155 infant patients, who were clinically treated because of bronchiolitis in the period from February 2013 to February 2014 in the Department of Pediatric Pulmonary Clinic in Sarajevo was retrospectively analyzed. Results: The majority of patients were aged less than 6 months (87.7%). The monthly distribution of bronchiolitis had a peak in January and February. Almost 50% of patients had a risk factors for the development of severe forms of bronchiolitis out of which the most common were artificial diet (53.5%), low birth weight below 2500g (17%), prematurity (16.1%), congenital heart anomalies (14.2%), bronchopulmonary dysplasia (1.9%). 46,5% of patients were on natural nutrition. 46 patients (29.6%) were serologically or by respi-strip test in nasopharyngeal lavage positive on respiratory syncytial virus (RSV). There were no patients who required mechanical ventilation. Conclusion: During the one-year period, bronchiolitis was the most common diagnose in the early infantile period up to 6 months, with a peak incidence in January and February. Risk factors such as prematurity, low birth weight, congenital heart anomalies and bronchopulmonary dysplasia have been less present in the studied period compared to the period before the introduction of RSV chemoprophylaxis. The epidemiological data obtained have facilitated the diagnosis, and accordingly the timely and appropriate treatment of bronchiolitis. PMID:26236159

  7. 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…

  8. Clinical impact of atypical endoscopic features in rectal neuroendocrine tumors

    PubMed Central

    Hyun, Jong Hee; Lee, Seong Dae; Youk, Eui Gon; Lee, Jae Bum; Lee, Enu-Jung; Chang, Hee Jin; Sohn, Dae Kyung

    2015-01-01

    AIM: To validate the association between atypical endoscopic features and lymph node metastasis (LNM). METHODS: A total of 247 patients with rectal neuroendocrine tumors (NETs) were analyzed. Endoscopic images were reviewed independently by two endoscopists, each of whom classified tumors by sized and endoscopic features, such as shape, color, and surface change (kappa coefficient 0.76 for inter-observer agreement). All of patients underwent computed tomography scans of abdomen and pelvis for evaluation of LNM. Univariate and multivariate analyses were performed to identify the factors associated with LNM. Additionally, the association between endoscopic atypical features and immunohistochemical staining of tumors was analyzed. RESULTS: Of 247 patients, 156 (63.2%) were male and 15 (6.1%) were showed positive for LNM. On univariate analysis, tumor size (P < 0.001), shape (P < 0.001), color (P < 0.001) and surface changes (P < 0.001) were significantly associated with LNM. On multivariate analysis, tumor size (OR = 11.53, 95%CI: 2.51-52.93, P = 0.002) and atypical surface (OR = 27.44, 95%CI: 5.96-126.34, P < 0.001) changes were independent risk factors for LNM. The likelihood of atypical endoscopic features increased as tumor size increased. Atypical endoscopic features were associated with LNM in rectal NETs < 10 mm (P = 0.005) and 10-19 mm (P = 0.041) in diameter. Immunohistochemical staining showed that the rate of atypical endoscopic features was higher in non L-cell tumors. CONCLUSION: Atypical endoscopic features as well as tumor size are predictive factors of LNM in patients with rectal NETs. PMID:26715813

  9. 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...

  10. 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

  11. 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…

  12. First record of the black bullhead Ameiurus melas (Teleostei: Ictaluridae) in Poland.

    PubMed

    Nowak, M; Kosco, J; Popek, W; Epler, P

    2010-04-01

    The North American catfish, the black bullhead Ameiurus melas, is recorded for the first time in Poland. The origin of these fish is not clear, but their presence may be associated with unregulated introductions by anglers. PMID:20537032

  13. 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

  14. 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

  15. 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

  16. 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

  17. 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

  18. Clinical Features of Alzheimer Disease With and Without Lewy Bodies

    PubMed Central

    Chung, Eun Joo; Babulal, Ganesh M.; Monsell, Sarah E.; Cairns, Nigel J.; Roe, Catherine M.; Morris, John C.

    2015-01-01

    IMPORTANCE Lewy bodies are a frequent coexisting pathology in late-onset Alzheimer disease (AD). Previous studies have examined the contribution of Lewy bodies to the clinical phenotype of late-onset AD with variable findings. OBJECTIVE To determine whether the presence of Lewy body pathology influences the clinical phenotype and progression of symptoms in longitudinally assessed participants with AD. DESIGN, SETTING, AND PARTICIPANTS Retrospective clinical and pathological cohort study of 531 deceased participants who met the neuropathologic criteria for intermediate or high likelihood of AD according to the National Institute on Aging–Ronald Reagan Institute guidelines for the neuropathologic diagnosis of AD. All participants had a clinical assessment within 2 years of death. The data were obtained from 34 AD centers maintained by the National Alzheimer Coordinating Center and spanned from September 12, 2005, to April 30, 2013. EXPOSURES Standardized neuropathologic assessment and then brain autopsy after death. MAIN OUTCOMES AND MEASURES Clinical and neuropsychiatric test scores. RESULTS The mean (SD) age at death was statistically significantly younger for participants who had AD with Lewy bodies (77.9 [9.5] years) than for participants who had AD without Lewy bodies (80.2 [11.1] years) (P = .01). The mean (SD) age at onset of dementia symptoms was also younger for participants who had AD with Lewy bodies (70.0 [9.9] years) than for participants who had AD without Lewy bodies (72.2 [12.3] years) (P = .03). More men than women had AD with Lewy bodies (P = .01). The frequency of having at least 1 APOE ?4 allele was higher for participants who had AD with Lewy bodies than for participants who had AD without Lewy bodies (P = .03). After adjusting for age, sex, education, frequency of plaques (neuritic and diffuse), and tangle stage, we found that participants who had AD with Lewy bodies had a statistically significantly higher mean (SD) Neuropsychiatric Inventory Questionnaire score (6.59 [1.44] [95% CI, 3.75–9.42] vs 5.49 [1.39] [95% CI, 2.76–8.23]; P = .04) and a statistically significantly higher mean (SD) Unified Parkinson Disease Rating Scale motor score (0.81 [0.18] [95% CI, 0.45–1.17] vs 0.54 [0.18] [95% CI, 0.19–0.88]; P < .001) than did participants who had AD without Lewy bodies. CONCLUSIONS AND RELEVANCE Participants with both AD and Lewy body pathology have a clinical phenotype that may be distinguished from AD alone. The frequency of Lewy bodies in AD and the association of Lewy bodies with the APOE ?4 allele suggest potential common mechanisms for AD and Lewy body pathologies. PMID:25985321

  19. [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

  20. 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

  1. Selecting a Selective Serotonin Reuptake Inhibitor: Clinically Important Distinguishing Features

    PubMed Central

    Marken, Patricia A.; Munro, J. Stuart

    2000-01-01

    Selective serotonin reuptake inhibitors (SSRIs) are widely prescribed to treat depression. Although these drugs presumably have the same mechanism of action, they vary in several clinically important ways, including how long they remain in the body and the extent to which they interfere with the metabolism of other medications. This article reviews the pharmacologic differences among SSRIs and how these differences may affect various aspects of treatment, such as dosing, administration, and discontinuation. Understanding the distinct properties of SSRIs may help primary care physicians to design the most appropriate therapeutic plan for individual patients. PMID:15014630

  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. 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

  4. 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

  5. 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.

  6. 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

  7. 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

  8. 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

  9. 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

  10. 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

  11. 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

  12. 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

  13. 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 pacentas 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

  14. [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

  15. Horner's Syndrome: A Case Report and Review of the Pathophysiology and Clinical Features

    PubMed Central

    Walker, L; French, S

    2014-01-01

    Tumours of the superior sulcus of the lung, commonly referred to as Pancoast tumours, present with characteristic clinical symptoms and signs. An interesting case of a patient who presented with such a tumour is presented. The pathophysiology, clinical features and approach to management are reviewed. PMID:25314289

  16. 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

  17. 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

  18. 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

  19. 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

  20. 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

  1. 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

  2. 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

  3. 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

  4. 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

  5. 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

  6. Characterization of the melA Locus for ?-Galactosidase in Lactobacillus plantarum

    PubMed Central

    Silvestroni, Aurelio; Connes, Cristelle; Sesma, Fernando; Savoy de Giori, Graciela; Piard, Jean-Christophe

    2002-01-01

    Alpha-galactosides are abundant sugars in legumes such as soy. Because of the lack of ?-galactosidase (?-Gal) in the digestive tract, humans are unable to digest these sugars, which consequently induce flatulence. To develop the consumption of the otherwise highly nutritional soy products, the use of exogenous ?-Gal is promising. In this framework, we characterized the melA gene for ?-Gal in Lactobacillus plantarum. The melA gene encodes a cytoplasmic 84-kDa protein whose enzymatically active form occurs as oligomers. The melA gene was cloned and expressed in Escherichia coli, yielding an active ?-Gal. We show that melA is transcribed from its own promoter, yielding a monocistronic mRNA, and that it is regulated at the transcriptional level, i.e., it is induced by melibiose but is not totally repressed by glucose. Posttranscriptional regulation by the carbon source could also occur. Upstream of melA, a putative galactoside transporter, designated RafP, was identified that shows high homology to LacS, the unique transporter for both ?- and ?-galactosides in Streptococcus thermophilus. rafP is also expressed as a monocistronic mRNA. Downstream of melA, the lacL and lacM genes were identified that encode a heterodimeric ?-galactosidase. A putative galM gene identified in the same cluster suggests the presence of a galactose operon. These results indicate that the genes involved in galactoside catabolism are clustered in L. plantarum ATCC 8014. This first genetic characterization of melA and of its putative associated transporter, rafP, in a lactobacillus opens doors to various applications both in the manufacture of soy-derived products and in probiotic and nutraceutical issues. PMID:12406739

  7. 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

  8. 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

  9. 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

  10. 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

  11. The clinical features of homozygous alpha 2(I) collagen deficient osteogenesis imperfecta.

    PubMed Central

    Nicholls, A C; Osse, G; Schloon, H G; Lenard, H G; Deak, S; Myers, J C; Prockop, D J; Weigel, W R; Fryer, P; Pope, F M

    1984-01-01

    The detailed clinical features and progress of a child with homozygous alpha 2(I) collagen deficiency are described. Clinically, the disease presents as severe progressive Sillence type III osteogenesis imperfecta. The main biochemical defect is the synthesis of an abnormal pro alpha 2(I) chain which does not associate with pro alpha 1(I) chains and therefore is not incorporated into triple helical trimers of type I procollagen which can be used to assemble collagen fibres. Images PMID:6492090

  12. Altered mitochondrial function in fibroblasts containing MELAS or MERRF mitochondrial DNA mutations.

    PubMed Central

    James, A M; Wei, Y H; Pang, C Y; Murphy, M P

    1996-01-01

    A number of human diseases are caused by inherited mitochondrial DNA mutations. Two of these diseases, MELAS (mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes) and MERRF (myoclonic epilepsy and ragged-red fibres), are commonly caused by point mutations to tRNA genes encoded by mitochondrial DNA. Here we report on how these mutations affect mitochondrial function in primary fibroblast cultures established from a MELAS patient containing an A to G mutation at nucleotide 3243 in the tRNA(Leu(UUR) gene and a MERRF patient containing an A to G mutation at nucleotide 8344 in the tRNA(Lys) gene. Both mitochondrial membrane potential and respiration rate were significantly decreased in digitonin-permeabilized MELAS and MERRF fibroblasts respiring on glutamate/malate. A similar decrease in mitochondrial membrane potential was found in intact MELAS and MERRF fibroblasts. The mitochondrial content of these cells, estimated by stereological analysis of electron micrographs and from measurement of mitochondrial marker enzymes, was similar in control, MELAS and MERRF cells. Therefore, in cultured fibroblasts, mutation of mitochondrial tRNA genes leads to assembly of bioenergetically incompetent mitochondria, not to an alteration in their amount. However, the cell volume occupied by secondary lysosomes and residual bodies in the MELAS and MERRF cells was greater than in control cells, suggesting increased mitochondrial degradation in these cells. In addition, fibroblasts containing mitochondrial DNA mutations were 3-4-fold larger than control fibroblasts. The implications of these findings for the pathology of mitochondrial diseases are discussed. PMID:8809026

  13. 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.

  14. Hairy cell leukemia: Uncommon clinical features, unusual sites of involvement and some rare associations.

    PubMed

    Tadmor, Tamar; Polliack, Aaron

    2015-12-01

    Unusual clinical manifestations and associations with auto-immunity or other systemic disorders are uncommon clinical features of hairy cell leukemia (HCL). The exact prevalence of these rare associations is difficult to determine as they are mostly published as anecdotal case reports and generally not included in larger published series. This chapter deals with uncommon clinical manifestations and rare sites of involvement in HCL. It also summarizes the association with systemic hemato-oncological disorders as well as second malignancies, based on review of the relevant literature and from personal experience. PMID:26614897

  15. 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 ?2 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

  16. 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

  17. Stable feature selection for clinical prediction: exploiting ICD tree structure using Tree-Lasso.

    PubMed

    Kamkar, Iman; Gupta, Sunil Kumar; Phung, Dinh; Venkatesh, Svetha

    2015-02-01

    Modern healthcare is getting reshaped by growing Electronic Medical Records (EMR). Recently, these records have been shown of great value towards building clinical prediction models. In EMR data, patients' diseases and hospital interventions are captured through a set of diagnoses and procedures codes. These codes are usually represented in a tree form (e.g. ICD-10 tree) and the codes within a tree branch may be highly correlated. These codes can be used as features to build a prediction model and an appropriate feature selection can inform a clinician about important risk factors for a disease. Traditional feature selection methods (e.g. Information Gain, T-test, etc.) consider each variable independently and usually end up having a long feature list. Recently, Lasso and related l1-penalty based feature selection methods have become popular due to their joint feature selection property. However, Lasso is known to have problems of selecting one feature of many correlated features randomly. This hinders the clinicians to arrive at a stable feature set, which is crucial for clinical decision making process. In this paper, we solve this problem by using a recently proposed Tree-Lasso model. Since, the stability behavior of Tree-Lasso is not well understood, we study the stability behavior of Tree-Lasso and compare it with other feature selection methods. Using a synthetic and two real-world datasets (Cancer and Acute Myocardial Infarction), we show that Tree-Lasso based feature selection is significantly more stable than Lasso and comparable to other methods e.g. Information Gain, ReliefF and T-test. We further show that, using different types of classifiers such as logistic regression, naive Bayes, support vector machines, decision trees and Random Forest, the classification performance of Tree-Lasso is comparable to Lasso and better than other methods. Our result has implications in identifying stable risk factors for many healthcare problems and therefore can potentially assist clinical decision making for accurate medical prognosis. PMID:25500636

  18. 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

  19. 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

  20. 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.

  1. 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 ?L 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.

  2. 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

  3. Clinical Features and Histology of Apolipoprotein L1-Associated Nephropathy in the FSGS Clinical Trial.

    PubMed

    Kopp, Jeffrey B; Winkler, Cheryl A; Zhao, Xiongce; Radeva, Milena K; Gassman, Jennifer J; D'Agati, Vivette D; Nast, Cynthia C; Wei, Changli; Reiser, Jochen; Guay-Woodford, Lisa M; Pollak, Martin R; Hildebrandt, Friedhelm; Moxey-Mims, Marva; Gipson, Debbie S; Trachtman, Howard; Friedman, Aaron L; Kaskel, Frederick J

    2015-06-01

    Genetic variants in apolipoprotein L1 (APOL1) confer risk for kidney disease. We sought to better define the phenotype of APOL1-associated nephropathy. The FSGS Clinical Trial involved 138 children and young adults who were randomized to cyclosporin or mycophenolate mofetil plus pulse oral dexamethasone with a primary outcome of proteinuria remission. DNA was available from 94 subjects who were genotyped for APOL1 renal risk variants, with two risk alleles comprising the risk genotype. Two APOL1 risk alleles were present in 27 subjects, of whom four subjects did not self-identify as African American, and 23 of 32 (72%) self-identified African Americans. Individuals with the APOL1 risk genotype tended to present at an older age and had significantly lower baseline eGFR, more segmental glomerulosclerosis and total glomerulosclerosis, and more tubular atrophy/interstitial fibrosis. There were differences in renal histology, particularly more collapsing variants in those with the risk genotype (P=0.02), although this association was confounded by age. APOL1 risk genotype did not affect response to either treatment regimen. Individuals with the risk genotype were more likely to progress to ESRD (P<0.01). In conclusion, APOL1 risk genotypes are common in African-American subjects with primary FSGS and may also be present in individuals who do not self-identify as African American. APOL1 risk status is associated with lower kidney function, more glomerulosclerosis and interstitial fibrosis, and greater propensity to progress to ESRD. The APOL1 risk genotype did not influence proteinuria responses to cyclosporin or mycophenolate mofetil/dexamethasone. PMID:25573908

  4. 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

  5. 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

  6. 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

  7. 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

  8. Basal cell carcinoma: pathogenesis, epidemiology, clinical features, diagnosis, histopathology, and management.

    PubMed

    Marzuka, Alexander G; Book, Samuel E

    2015-06-01

    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

  9. Prognostic value of CT scan features in acute ischaemic stroke and relationship with clinical stroke syndromes.

    PubMed

    Sharma, J C; Fletcher, S; Vassallo, M; Ross, I

    2000-10-01

    The aim of this prospective study was to investigate the value of CT scan in prognosis of acute ischaemic stroke patients as a variable additional to clinical stroke syndromes to develop a simple classification of CT scan features to provide a practical approach to prognosticate and manage such patients. One hundred and eight nine patients admitted with ischaemic stroke were investigated with a CT scan. CT scan features were classified into two groups: large infarct, LI (across more than one lobe) and non-large infarcts (N-LI) for all other features. Patients were also studied for clinical syndromes, analysing results for total anterior circulation syndrome (TACS). Outcome was measured as early post stroke Barthel index, acute phase and 3-month mortality. Patients with LI had features of severe strokes and had a lower Barthel index (p < 0.001), lower Glasgow coma score (p < 0.001), more association with incontinence (p < 0.001), pyrexia (p = 0.007) and dysphagia (p < 0.001). LI patients required higher level of care in acute wards and had a higher length of stay (p = 0.01). Both the LI and TACS individually had a significantly higher mortality (p < 0.001) and similar positive predictive value, sensitivity and specificity for 3-month mortality. While the combined factor of 'large infarct and TACS' provided the highest likelihood ratio (3.1) for mortality, the factor of 'large infarct or TACS' was the most sensitive (85%) to identify majority of patients at a risk of mortality. N-LI patients had a better prognosis. Classification of cerebral infarcts into large and non-large categories identifies patients who require higher level of care in acute wards and have a higher mortality. Combined factor of 'large infarct and/or TACS' identifies the majority of patients at risk of 3-month mortality as compared to either variable taken individually. CT scan features are complimentary to clinical syndromes for managing acute stroke patients. PMID:11198729

  10. 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

  11. Frequency of Distinguishing Clinical Features in Vogt-Koyanagi-Harada disease

    PubMed Central

    Rao, Narsing A.; Gupta, Amod; Dustin, Laurie; Chee, Soon Phaik; Okada, Annabelle A.; Khairallah, Moncef; Bodaghi, Bahram; Lehoang, Phuc; Accorinti, Massimo; Mochizuki, Manabu; Prabriputaloong, Tisha; Read, Russell W.

    2009-01-01

    Purpose To determine the frequency of occurrence of limited clinical features which distinguish patients with Vogt-Koyanagi-Harada (VKH) disease from those with non-VKH uveitis. Design Comparative case series. Participants 1147 total patients. Methods All patients with bilateral ocular inflammatory disease presenting to any of ten uveitis centers in the three month period between 2006-January-01 and 2006-March-31 (inclusive) were asked to participate. The clinical and historical features of disease were obtained from the participants via direct interview and chart review. Patients were stratified based on whether they were diagnosed with VKH disease or non-VKH uveitis for statistical analysis. Main Outcome Measures Presence or absence of various clinical features in the two populations. Results Of 1147 patients, 180 were diagnosed with VKH disease and 967 with non-VKH uveitis. Hispanics and Asians were more likely to be diagnosed with VKH than non-VKH disease compared to other ethnicities. In acute disease, the finding of exudative retinal detachment was most likely to be found in VKH disease with a positive predictive value (PPV) of 100 and negative predictive value (NPV) of 88.4, while in chronic disease, sunset glow fundus was most likely to be found, with a PPV of 94.5 and NPV of 89.2. Conclusions Numerous clinical findings have been described in the past as important in the diagnosis of VKH. The current study reveals that of these, two are highly specific to this entity in an ethnically and geographically diverse group of patients with non-traumatic bilateral uveitis. These clinical findings are 1. exudative retinal detachment during acute disease and 2. sunset glow fundus during the chronic phase of the disease. PMID:20036008

  12. 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

  13. Childhood trauma associates with clinical features of schizophrenia in a sample of Chinese inpatients.

    PubMed

    Li, Xian-Bin; Li, Qi-Yong; Liu, Jin-Tong; Zhang, Liang; Tang, Yi-Lang; Wang, Chuan-Yue

    2015-08-30

    This study examined the association between childhood trauma and clinical features, comorbid anxiety and post-traumatic stress disorder (PTSD) symptoms, and suicidal and aggressive behaviors in Chinese patients with schizophrenia. The Childhood Trauma Questionnaire - Short Form (CTQ-SF), the Impact of Events Scale - Revised (IES-R), and the State-Trait Anxiety Inventory (STAI) were administered to 182 Chinese inpatients with schizophrenia. The relationship between the severity and the number of traumic experiences and clinical features were analyzed. Physical neglect (PN) in childhood was reported in 71.7% of this sample, followed by emotional neglect (EN, 58.6%), sexual abuse (SA, 39.9%), emotional abuse (EA, 31.7%) and physical abuse (PA, 22.2%). Significant negative correlations existed between age of onset and the EA scores. Significant positive correlations were found between the subscores of IES-R, STAI and CTQ-SF. Patients with history of suicidal or aggressive behaviors had significantly higher trauma scores than patients without such behaviors. Exposure to childhood trauma is associated with early age of onset, more PTSD and anxiety symptoms, and history of suicidal and aggressive behaviors. A dose-effect may exist between severity, number of trauma experiences, and clinical features. PMID:26096662

  14. Gender and Ethnicity Based Differences in Clinical and Laboratory Features of Myasthenia Gravis.

    PubMed

    Abukhalil, Fawzi; Mehta, Bijal; Saito, Erin; Mehta, Sejal; McMurtray, Aaron

    2015-01-01

    Background. Previous reports describe ethnicity based differences in clinical and laboratory features between Caucasians and African Americans with myasthenia gravis. However, it is not known whether these findings apply to other ethnicities. Methods. Retrospective analysis of all patients treated for myasthenia gravis during a three-year period at a community based medical center. Results. A total of 44 patients were included, including 19 of Hispanic, 16 of African American, 6 of Caucasian, and 3 of Asian ethnicities. Female gender was more common among those with Hispanic, Asian, and African American ethnicities compared to Caucasian ethnicity (p = 0.029). Anti-acetylcholine receptor antibody subtypes demonstrated no significant ethnicity based differences in either generalized or ocular myasthenia gravis. A trend was noted towards greater frequency of blocking antibodies among Hispanics (52.6%) compared to African American (37.5%) and Caucasian (33.3%) patients (p = 0.059). Generalized but not ocular myasthenia patients showed greater frequency of anti-muscle specific kinase antibodies in Asians and Hispanics compared to African Americans and Caucasians (p = 0.041). Conclusions. The results of this study support the existence of ethnicity based differences in clinical and laboratory features of myasthenia gravis. Further study of genetic factors influencing clinical features of myasthenia gravis is indicated. PMID:26175913

  15. Gender and Ethnicity Based Differences in Clinical and Laboratory Features of Myasthenia Gravis

    PubMed Central

    Abukhalil, Fawzi; Mehta, Bijal; Saito, Erin; Mehta, Sejal; McMurtray, Aaron

    2015-01-01

    Background. Previous reports describe ethnicity based differences in clinical and laboratory features between Caucasians and African Americans with myasthenia gravis. However, it is not known whether these findings apply to other ethnicities. Methods. Retrospective analysis of all patients treated for myasthenia gravis during a three-year period at a community based medical center. Results. A total of 44 patients were included, including 19 of Hispanic, 16 of African American, 6 of Caucasian, and 3 of Asian ethnicities. Female gender was more common among those with Hispanic, Asian, and African American ethnicities compared to Caucasian ethnicity (p = 0.029). Anti-acetylcholine receptor antibody subtypes demonstrated no significant ethnicity based differences in either generalized or ocular myasthenia gravis. A trend was noted towards greater frequency of blocking antibodies among Hispanics (52.6%) compared to African American (37.5%) and Caucasian (33.3%) patients (p = 0.059). Generalized but not ocular myasthenia patients showed greater frequency of anti-muscle specific kinase antibodies in Asians and Hispanics compared to African Americans and Caucasians (p = 0.041). Conclusions. The results of this study support the existence of ethnicity based differences in clinical and laboratory features of myasthenia gravis. Further study of genetic factors influencing clinical features of myasthenia gravis is indicated. PMID:26175913

  16. 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

  17. Solitary rectal ulcer syndrome: Clinical features, pathophysiology, diagnosis and treatment strategies

    PubMed Central

    Zhu, Qing-Chao; Shen, Rong-Rong; Qin, Huan-Long; Wang, Yu

    2014-01-01

    Solitary rectal ulcer syndrome (SRUS) is an uncommon benign disease, characterized by a combination of symptoms, clinical findings and histological abnormalities. Ulcers are only found in 40% of the patients; 20% of the patients have a solitary ulcer, and the rest of the lesions vary in shape and size, from hyperemic mucosa to broad-based polypoid. Men and women are affected equally, with a small predominance in women. SRUS has also been described in children and in the geriatric population. Clinical features include rectal bleeding, copious mucus discharge, prolonged excessive straining, perineal and abdominal pain, feeling of incomplete defecation, constipation, and rarely, rectal prolapse. This disease has well-described histopathological features such as obliteration of the lamina propria by fibrosis and smooth muscle fibers extending from a thickened muscularis mucosa to the lumen. Diffuse collage deposition in the lamina propria and abnormal smooth muscle fiber extensions are sensitive markers for differentiating SRUS from other conditions. However, the etiology remains obscure, and the condition is frequently associated with pelvic floor disorders. SRUS is difficult to treat, and various treatment strategies have been advocated, ranging from conservative management to a variety of surgical procedures. The aim of the present review is to summarize the clinical features, pathophysiology, diagnostic methods and treatment strategies associated with SRUS. PMID:24574747

  18. Computed tomographic emphysema distribution: relationship to clinical features in a cohort of smokers.

    PubMed

    Mair, G; Miller, J J; McAllister, D; Maclay, J; Connell, M; Murchison, J T; MacNee, W

    2009-03-01

    Computed tomography (CT) scanning allows precise assessment of both the extent and distribution of emphysema. There has been little work on the relationship between the distribution of emphysema and clinical features of the disease. The current study investigated the association between clinical features and distribution of emphysema. A total of 129 patients with smoking-related chronic obstructive pulmonary disease underwent CT assessment of the extent and distribution of their emphysema (core/rind and upper/lower zone predominance). Emphysema was found predominantly in the upper/core zone and this distribution was related to the extent of disease. Core predominance was associated with lower forced expiratory volume in one second (FEV(1)), FEV(1)/forced vital capacity ratio and body mass index (BMI); and with higher BODE (BMI, airflow obstruction, dyspnoea and exercise capacity) index and Medical Research Council dyspnoea score. Upper-zone predominance was associated with female sex and an increased total St George's Respiratory Questionnaire score. Using multiple linear regression age, sex and whole lung emphysema severity were independently associated with core/rind distribution, while sex and whole lung emphysema severity were independently related to upper/lower distribution. Distribution of emphysema related best to clinical features when divided into core/rind predominance. However, the effects were not independent of the extent of emphysema. Increased age and female sex were related to disease distribution independent of emphysema severity. These findings may be related to differences in development of emphysema. PMID:18829675

  19. 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

  20. Identifying ultrasound and clinical features of breast cancer molecular subtypes by ensemble decision

    PubMed Central

    Zhang, Lei; Li, Jing; Xiao, Yun; Cui, Hao; Du, Guoqing; Wang, Ying; Li, Ziyao; Wu, Tong; Li, Xia; Tian, Jiawei

    2015-01-01

    Breast cancer is molecularly heterogeneous and categorized into four molecular subtypes: Luminal-A, Luminal-B, HER2-amplified and Triple-negative. In this study, we aimed to apply an ensemble decision approach to identify the ultrasound and clinical features related to the molecular subtypes. We collected ultrasound and clinical features from 1,000 breast cancer patients and performed immunohistochemistry on these samples. We used the ensemble decision approach to select unique features and to construct decision models. The decision model for Luminal-A subtype was constructed based on the presence of an echogenic halo and post-acoustic shadowing or indifference. The decision model for Luminal-B subtype was constructed based on the absence of an echogenic halo and vascularity. The decision model for HER2-amplified subtype was constructed based on the presence of post-acoustic enhancement, calcification, vascularity and advanced age. The model for Triple-negative subtype followed two rules. One was based on irregular shape, lobulate margin contour, the absence of calcification and hypovascularity, whereas the other was based on oval shape, hypovascularity and micro-lobulate margin contour. The accuracies of the models were 83.8%, 77.4%, 87.9% and 92.7%, respectively. We identified specific features of each molecular subtype and expanded the scope of ultrasound for making diagnoses using these decision models. PMID:26046791

  1. 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

  2. Clinical and radiographic features of Hutchinson-Gilford progeria syndrome: A case report.

    PubMed

    Alves, Daniel Berretta; Silva, Juliana Melo; Menezes, Tatiany Oliveira; Cavaleiro, Rosely Santos; Tuji, Fabrício Mesquita; Lopes, Marcio Ajudarte; Zaia, Alexandre Augusto; Coletta, Ricardo Della

    2014-03-16

    Hutchinson-Gilford progeria syndrome (HGPS) is a rare dysmorphic syndrome characterized by several features of premature aging with clinical involvement of the skin, bones, and cardiovascular system. HGPS has an estimated incidence of one in four million to one in eight million births. The main clinical features of HGPS include short stature, craniofacial dimorphism, alopecia, bone fragility, and cardiovascular disorders. The most frequent cause of death is myocardial infarction at a mean age of 13 years old. Dental manifestations include delayed development and eruption of teeth, discoloration, crowding and rotation of teeth, and displaced teeth. Cone beam computed tomography images revealed the absence of the sphenoid, frontal, and maxillary sinus, flattening of the condyles and glenoid fossa, and bilateral hypoplasia of the mandibular condyles. The disease is caused by mutations in lamin A/C (LMNA). Here, we present a case report of an 11-year-old boy with classical features of HGPS, which was caused by a de novo germ-line mutation (C1824T, G608G) in exon 11 of the LMNA gene. Some uncommon HGPS-associated features in our patient, such as alterations in the facial sinuses and hypoplasia of the condyles, contributed to the expansion of the phenotypic spectrum of this syndrome from a dentomaxillofacial perspective. PMID:24653988

  3. Mendelian susceptibility to mycobacterial disease: genetic, immunological, and clinical features of inborn errors of IFN-? immunity

    PubMed Central

    Bustamante, Jacinta; Boisson-Dupuis, Stéphanie; Abel, Laurent; Casanova, Jean-Laurent

    2014-01-01

    Mendelian susceptibility to mycobacterial disease (MSMD) is a rare condition characterized by predisposition to clinical disease caused by weakly virulent mycobacteria, such as BCG vaccines and environmental mycobacteria, in otherwise healthy individuals with no overt abnormalities in routine hematological and immunological tests. MSMD designation does not recapitulate all the clinical features, as patients are also prone to salmonellosis, candidiasis and tuberculosis, and more rarely to infections with other intramacrophagic bacteria, fungi, or parasites, and even, perhaps, a few viruses. Since 1996, nine MSMD-causing genes, including seven autosomal (IFNGR1, IFNGR2, STAT1, IL12B, IL12RB1, ISG15, and IRF8) and two X-linked (NEMO, CYBB) genes have been discovered. The high level of allelic heterogeneity has already led to the definition of 18 different disorders. The nine gene products are physiologically related, as all are involved in IFN-?-dependent immunity. These disorders impair the production of (IL12B, IL12RB1, IRF8, ISG15, NEMO) or the response to (IFNGR1, IFNGR2, STAT1, IRF8, CYBB) IFN-?. These defects account for only about half the known MSMD cases. Patients with MSMD-causing genetic defects may display other infectious diseases, or even remain asymptomatic. Most of these inborn errors do not show complete clinical penetrance for the case-definition phenotype of MSMD. We review here the genetic, immunological, and clinical features of patients with inborn errors of IFN-?-dependent immunity. PMID:25453225

  4. 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

  5. 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

  6. 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

  7. [Clinical features and COMP gene mutation in a family with a pseudoachondroplasia child].

    PubMed

    Lu, Chun-Ting; Guo, Li; Zahng, Zhan-Hui; Lin, Wei-Xia; Song, Yuan-Zong; Feng, Lie

    2013-11-01

    This study aimed to report the clinical characteristics and COMP gene mutation of a family with pseudoachondroplasia (PSACH), a relatively rare spinal and epiphyseal dysplasia that is inherited as an autosomal dominant trait. Clinical information on a 5-year-2-month-old PSACH child and his parents was collected and analyzed. Diagnosis was confirmed by PCR amplification and direct sequencing of all the 19 exons and their flanking sequences of COMP gene, and the mutation was further ascertained by cloning analysis of exon 10. The child presented with short and stubby fingers, bow leg, short limb dwarfism and metaphysic broadening in long bone as well as lumbar lordosis. A mutation c.1048_1116del (p.Asn350_Asp372del) in exon 10, inherited from his father who did not demonstrate any phenotypic feature of PSACH, was detected in the child. PSACH was diagnosed definitively by means of COMP mutation analysis, on the basis of the child's clinical and imaging features. The non-penetrance phenomenon of COMP mutation was described for the first time in PSACH. PMID:24229584

  8. 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

  9. Acanthamoeba, fungal, and bacterial keratitis: a comparison of risk factors and clinical features

    PubMed Central

    Mascarenhas, Jeena; Lalitha, Prajna; Prajna, N. Venkatesh; Srinivasan, Muthiah; Das, Manoranjan; D’Silva, Sean S.; Oldenburg, Catherine E.; Borkar, Durga S.; Esterberg, Elizabeth J.; Lietman, Thomas M.; Keenan, Jeremy D.

    2013-01-01

    Purpose To determine risk factors and clinical signs that may differentiate between bacterial, fungal, and acanthamoeba keratitis among patients presenting with presumed infectious keratitis. Design Hospital-based cross-sectional study. Methods We examined the medical records of 115 patients with laboratory-proven bacterial keratitis, 115 patients with laboratory-proven fungal keratitis, and 115 patients with laboratory-proven acanthamoeba keratitis seen at Aravind Eye Hospital, Madurai, India, from 2006–2011. Risk factors and clinical features of the three organisms were compared using multinomial logistic regression. Results Of 95 patients with bacterial keratitis, 103 patients with fungal keratitis, and 93 patients with acanthamoeba keratitis who had medical records available for review, 287 (99%) did not wear contact lenses. Differentiating features were more common for acanthamoeba keratitis than for bacterial or fungal keratitis. Compared to patients with bacterial or fungal keratitis, patients with acanthamoeba keratitis were more likely to be younger and to have a longer duration of symptoms, and to have a ring infiltrate or disease confined to the epithelium. Conclusions Risk factors and clinical examination findings can be useful for differentiating acanthamoeba keratitis from bacterial and fungal keratitis. PMID:24200232

  10. 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-?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.

  11. Pulmonary Mycobacterium kansasii infection: comparison of the clinical features, treatment and outcome with pulmonary tuberculosis.

    PubMed Central

    Evans, S. A.; Colville, A.; Evans, A. J.; Crisp, A. J.; Johnston, I. D.

    1996-01-01

    BACKGROUND: In the United Kingdom Mycobacterium kansasii is the most common pulmonary non-tuberculous mycobacteria to cause disease in the non-HIV positive population. METHODS: The clinical features, treatment, and outcome of 47 patients (13 women) of mean (SD) age 58 (17) years with culture positive pulmonary M kansasii infection were compared with those of 87 patients (23 women) of mean (SD) age 57 (16) years with culture positive pulmonary M tuberculosis infection by review of their clinical and laboratory records. Each patient with M kansasii infection was matched for age, sex, race and, where possible, year of diagnosis with two patients with M tuberculosis infection. RESULTS: All those with M kansasii infection were of white race. Haemoptysis was more common in patients infected with M kansasii but they were less likely to present as a result of an incidental chest radiograph or symptoms other than those due to mycobacterial infection. Patients with M kansasii were also less likely to have a history of diabetes, but the frequency of previous chest disease and tuberculosis was similar. An alcohol intake of > 14 units/week was less frequent in those with M kansasii, but there were no significant differences in drug history, past and present smoking habit, occupational exposures, social class, or marital status. Patients with M kansasii received a longer total course of antimycobacterial therapy and, in particular, extended treatment with ethambutol and rifampicin was given. There was no significant difference in outcome between pulmonary M kansasii or M tuberculosis infection. CONCLUSIONS: There are group differences between the clinical features of the two infections but, with the possible exception of diabetes and alcohol intake, these features are unlikely to be diagnostically helpful. Treatment of M kansasii infection with ethambutol, isoniazid, and rifampicin in these patients was as effective as standard regimens given to patients infected with M tuberculosis. PMID:8994524

  12. 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

  13. 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

  14. Clinical features and endocrine profile of Laron syndrome in Indian children

    PubMed Central

    Phanse-Gupte, Supriya R.; Khadilkar, Vaman V.; Khadilkar, Anuradha V.

    2014-01-01

    Introduction: Patients with growth hormone (GH) insensitivity (also known as Laron syndome) have been reported from the Mediterranean region and Southern Eucador, with few case reports from India. We present here the clinical and endocrine profile of 9 children with Laron syndrome from India. Material and Methods: Nine children diagnosed with Laron syndrome based on clinical features of GH deficiency and biochemical profile suggestive of GH resistance were studied over a period of 5 years from January 2008 to January 2013. Results and Discussion: Age of presentation was between 2.5-11.5 years. All children were considerably short on contemporary Indian charts with mean (SD) height Z score -5.2 (1.6). However, they were within ± 2 SD on Laron charts. No child was overweight [mean (SD) BMI Z score 0.92 (1.1)]. All children had characteristic facies of GH deficiency with an added feature of prominent eyes. Three boys had micropenis and 1 had unilateral undescended testis. All children had low IGF-1 (<5 percentile) and IGFP-3 (<0.1 percentile) with high basal and stimulated GH [Basal GH mean (SD) = 13.78 (12.75) ng/ml, 1-h stimulated GH mean (SD) = 46.29 (25.68) ng/ml]. All children showed poor response to IGF generation test. Conclusion: Laron syndrome should be suspected in children with clinical features of GH deficiency, high GH levels and low IGF-1/IGFBP-3. These children are in a state of GH resistance and need IGF-1 therapy. PMID:25364685

  15. 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

  16. 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

  17. 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

  18. 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

  19. 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

  20. 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

  1. 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

  2. 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

  3. 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

  4. 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

  5. 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

  6. 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

  7. 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

  8. 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

  9. 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

  10. 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.

  11. The clinical features of foreign body aspiration into the lower airway in geriatric patients

    PubMed Central

    Lin, Lianjun; Lv, Liping; Wang, Yuchuan; Zha, Xiankui; Tang, Fei; Liu, Xinmin

    2014-01-01

    Purpose To analyze the clinical features of foreign-body aspiration into the lower airway in geriatric patients. Patients and methods The clinical data of 17 geriatric patients with foreign-body aspiration were retrospectively analyzed and compared with 26 nongeriatric adult patients. The data were collected from Peking University First Hospital and Anhui Chest Hospital between January 2000 and June 2014. Results (1) In the geriatric group, the most common symptoms were cough and sputum (15 cases, 88%), dyspnea (six cases, 35%), and hemoptysis (four cases, 24%). Five patients (29%) in the geriatric group could supply the history of aspiration on their first visit to doctor, a smaller percentage than in the nongeriatric group (13 cases, 50%). Only three cases in the geriatric group were diagnosed definitely without delay. Another 14 cases were misdiagnosed as pneumonia or lung cancer, and the time of delayed diagnosis ranged from 1 month to 3 years. Complications due to delay in diagnosis included obstructive pneumonitis, atelectasis, lung abscess, and pleural effusion. (2) Chest computed tomography demonstrated the foreign body in three cases (21%) in the geriatric group, which was lower than the positive proportion of detection in the nongeriatric group (nine cases, 35%). The most common type of foreign body in the geriatric group was food, such as bone fragments (seven cases, 41%) and plants (seven cases, 41%), and the foreign body was most often lodged in the right bronchus tree (eleven cases, 65%), especially the right lower bronchus (seven cases, 41%). Flexible bronchoscopy removed the foreign body successfully in all patients. Conclusion The clinical features of foreign-body aspiration in geriatric patients are usually more obscure than in nongeriatric adults, which may lead to long delay in diagnosis. Flexible bronchoscopy is safe and useful for early diagnosis and effective management in geriatric patients. We suggest flexible bronchoscopy as the first-line approach to similar patients, especially those with aspiration history and unexplained pneumonia. PMID:25284994

  12. 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

  13. 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

  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. 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

  16. Clinical features of patients with dystrophinopathy sharing the 45-55 exon deletion of DMD gene.

    PubMed

    Taglia, Antonella; Petillo, Roberta; D'Ambrosio, Paola; Picillo, Esther; Torella, Annalaura; Orsini, Chiara; Ergoli, Manuela; Scutifero, Marianna; Passamano, Luigia; Palladino, Alberto; Nigro, Gerardo; Politano, Luisa

    2015-05-01

    Becker muscular dystrophy (BMD) was first described in 1953 by Emile Becker as a benign variant of Duchenne muscular Dystrophy (DMD). Compared with DMD, BMD is clinically more heterogeneous, with initial presentation in the teenage years and loss of ambulation beyond the age of 16 and a wide spectrum of clinical presentations, ranging from only myalgias and muscle cramps to exercise intolerance and myoglobinuria, asymptomatic elevation of serum creatin-kinase, or mild limb-girdle weakness and quadriceps myopathy. About 50% of patients become symptomatic by the age of 10 and the most part by the age of 20 years. However few patients can be free of symptoms till their fifties and cases of late-onset Becker Muscular Dystrophy have also been described. In this report we describe the clinical features of patients with dystrophinopathy sharing a deletion of exons 45-55, occasionally or retrospectively diagnosed. These data are important for both the prognostic aspects of children presenting this dystrophin gene mutation, and for the genetic counseling in these families (reassuring them on the benign course of the disease), and last but not least to keep in mind a diagnosis of BMD in asymptomatic adults with mild hyperckemia. PMID:26155064

  17. 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.

  18. Epidemiological features and clinical manifestations of Lyme borreliosis in Korea during the period 2005-2012.

    PubMed

    Moon, Shinje; Hong, Yeongseon; Hwang, Kyu-Jam; Kim, Suyeon; Eom, Jihye; Kwon, Donghyok; Park, Ji-Hyuk; Youn, Seung-Ki; Sohn, Aeree

    2015-01-01

    Lyme borreliosis is one of the most common tick-borne infections in the northern hemisphere. However, the epidemiological features and clinical manifestations of this disease in Korea are unknown. The present study is the first to investigate the characteristics of Lyme borreliosis in Korea. We traced suspected cases of Lyme borreliosis during the period 2005-2012. Of the 16 identified patients with the disease, 11 had acquired autochthonous infection within Korea, while 5 patients were infected outside Korea. The history of past exposure was investigated in 8 of the 11 patients with autochthonous infection; 5 of these 8 patients (62.5%) were suspected to have acquired the infection in the northeastern alpine region. Clinically, of 11 patients with autochthonous infection, 6 (54.5%) showed early skin manifestations, 4 (36.4%) showed neurological manifestations, and 1 (9.1%) showed acrodermatitis chronica atrophicans. In conclusion, Lyme borreliosis could be endemic in the northeastern alpine region of Korea, and neurological and early skin manifestations are likely to be the major clinical characteristics of autochthonous Lyme borreliosis in Korea. PMID:25420645

  19. 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

  20. 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

  1. 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

  2. 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

  3. Poster: Auto-reduction of Features for Containing Communication Costs in a Distributed Privacy-Preserving Clinical Decision Support System

    E-print Network

    Obradovic, Zoran

    -preserving Clinical Decision Support Systems. Due to large number of features associated with clinical patient records-preserving algorithm that can dynamically learn from patient data spread across multiple hospitals using just for node split at the root or middle node levels and it falls through until the instances are exhausted

  4. [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

  5. 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

  6. 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

  7. 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

  8. 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

  9. 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

  10. [Clinical and laboratory features of pheochromocytoma in a 52-year-old female patient].

    PubMed

    Aranguren, Otmara; Mora, Idania Teresa; Cardosa, Maritza; León, Olga; López, María Victoria; Portales, Ramón

    2014-01-01

    The article aims to describe the clinical and laboratory features of a female patient suffering from pheochromocytoma. The case is a 52-year-old female patient who presents to our healthcare center with high blood pressure, cold limbs, sweating, jitteriness, and episodes of oppressive chest pain that appear several times per day. She also reports fatigue and a 13-kilogram weight loss. The sonogram revealed a nodular image in the right adrenal gland that had low echogenicity and regular margins measuring 5 mm. The image was confirmed with a contrast-enhanced adrenal CAT scan. Urine vanillylmandelic acid levels were high and an adrenal biopsy confirmed a pheochromocytoma measuring 4.5 x 3.5 x 3 cm. PMID:25406866

  11. 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

  12. 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

  13. DNA methylation profiles in primary cutaneous melanomas are associated with clinically significant pathologic features.

    PubMed

    Thomas, Nancy E; Slater, Nathaniel A; Edmiston, Sharon N; Zhou, Xin; Kuan, Pei-Fen; Groben, Pamela A; Carson, Craig C; Hao, Honglin; Parrish, Eloise; Moschos, Stergios J; Berwick, Marianne; Ollila, David W; Conway, Kathleen

    2014-11-01

    DNA methylation studies have elucidated a methylation signature distinguishing primary melanomas from benign nevi and provided new insights about genes that may be important in melanoma development. However, it is unclear whether methylation differences among primary melanomas are related to tumor pathologic features with known clinical significance. We utilized the Illumina GoldenGate Cancer Panel array to investigate the methylation profiles of 47 primary cutaneous melanomas. Arraywide methylation patterns revealed a positive association of methylation with Breslow thickness and mutated BRAF, a negative association with mitotic rate, and a weak association with ulceration. Hierarchical clustering on CpG sites exhibiting the most variable methylation (n = 235) divided the melanoma samples into three clusters, including a highly methylated cluster that was positively associated with Breslow thickness and an intermediately methylated cluster associated with Breslow thickness and mitotic rate. Our findings provide support for the existence of methylation-defined subsets in melanomas with increased methylation associated with Breslow thickness. PMID:24986547

  14. Clinical features and natural history of axial predominant adult onset primary dystonia

    PubMed Central

    Bhatia, K.; Quinn, N.; Marsden, C

    1997-01-01

    The clinical features and natural history of 18 patients with adult onset axial predominant severe truncal primary dystonia are presented. The mean age of onset was 41 (42 for men, 39 for women) and there was a higher proportion of men (10:8). Analysis of their clinical features and follow up over three to five years or more showed that these patients generally conform to the characteristics of other types of adult onset primary dystonias. They tended to remain focal although there could be an initial contiguous spread, sometimes beginning in the craniocervical region and spreading axially or, rarely, vice versa. If spread occurred, involvement of the head, neck, and arms was mild in comparison with the severe dystonia of the trunk. However, in none of the patients with craniocervical or truncal onset did the dystonia spread to involve the legs. More than a third (seven of 18) of the patients had a prior history of injury at the site subsequently affected by dystonia. Treatment response to various drugs overall was poor but a third of the patients improved on treatment either with triple therapy (a combination of tetrabenazine, pimozide, and an anticholinergic drug) or high dose anticholinergic drugs alone. Severe depression occurred in 33% of patients, mainly due to the negative personal image arising from their disfiguring dystonia. None of the patients had a family history of dystonia and at the moment it is unclear whether these patients with sporadic axial dystonia are non-genetic phenocopies or are a manifestation of one or more of the genes that cause generalised dystonia or torticollis.?? PMID:9416818

  15. Clinical features and prognosis of adult-onset Still’s disease: 75 cases from China

    PubMed Central

    Liu, Zhenzhen; Lv, Xiaoju; Tang, Guangmin

    2015-01-01

    This study evaluated the clinical characteristics, treatment outcomes, and complications of patients with adult onset Still’s disease (AOSD) in our local Chinese population. Patients with AOSD attending our hospital from 2008 to 2011 were identified and followed up. Their clinical and laboratory features at presentation, as well as their disease progression, treatments, and outcomes were recorded and compared with other reported series. A total of 75 patients with AOSD were identified. Forty-four were female. Thirty-nine had disease onset between 16 and 35 years of age. The most common presenting features were fever (96%), arthritis (57.33%), rash (78.67%), and sore throat (49.3%). The acute phase response was marked in most patients, with elevated erythrocyte sedimentation rates (77.05%) and C-reactive protein levels (84.06%). Hyperferritinemia was present in 74.14% of cases, and serum ferritin (SF) levels declined after treatment in most cases. Liver abnormalities were usually transient, but were more severe in 5 patients. Most patients (92%) required corticosteroid therapy; of these, 33.3% also received disease-modifying antirheumatic drugs or immunosuppressive drugs. Sixty-four and 45.33% patients with AOSD achieved partial and complete remission, respectively, after 2 weeks of treatment, and 92% and 74.67%, respectively, after 1 month. The cumulative relapse rate was 45.3%. Patients with AOSD had complex symptoms with no specific laboratory findings. Reduced SF levels after treatment and liver abnormalities may be used to follow treatment outcome. PMID:26629195

  16. Appreciating the broad clinical features of SMAD4 mutation carriers: a multicenter chart review.

    PubMed

    Wain, Karen E; Ellingson, Marissa S; McDonald, Jamie; Gammon, Amanda; Roberts, Maegan; Pichurin, Pavel; Winship, Ingrid; Riegert-Johnson, Douglas L; Weitzel, Jeffrey N; Lindor, Noralane M

    2014-08-01

    Heterozygous loss-of-function SMAD4 mutations are associated with juvenile polyposis syndrome and hereditary hemorrhagic telangiectasia. Some carriers exhibit symptoms of both conditions, leading to juvenile polyposis-hereditary hemorrhagic telangiectasia syndrome. Three families have been reported with connective tissue abnormalities. To better understand the spectrum and extent of clinical findings in SMAD4 carriers, medical records of 34 patients (20 families) from five clinical practices were reviewed. Twenty-one percent of the patients (7/34) had features suggesting a connective tissue defect: enlarged aortic root (n = 3), aortic and mitral insufficiency (n = 2), aortic dissection (n = 1), retinal detachment (n = 1), brain aneurysms (n = 1), and lax skin and joints (n = 1). Juvenile polyposis-specific findings were almost uniformly present but variable. Ninety-seven percent of the patients had colon polyps that were generally pan-colonic and of variable histology and number. Forty-eight percent of the patients (15/31) had extensive gastric polyposis. Hereditary hemorrhagic telangiectasia features, including epistaxis (19/31, 61%), mucocutaneous telangiectases (15/31, 48%), liver arteriovenous malformation (6/16, 38%), brain arteriovenous malformation (1/26, 4%), pulmonary arteriovenous malformation (9/17, 53%), and intrapulmonary shunting (14/23, 61%), were documented in 76% of the patients. SMAD4 carriers should be managed for juvenile polyposis and hereditary hemorrhagic telangiectasia because symptoms of both conditions are likely yet unpredictable. Connective tissue abnormalities are an emerging component of juvenile polyposis-hereditary hemorrhagic telangiectasia syndrome, and larger studies are needed to understand these manifestations. PMID:24525918

  17. 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

  18. 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

  19. 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 (G?nther’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

  20. 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

  1. 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

  2. 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

  3. 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

  4. 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

  5. Clinical features, current treatments and outcome of pregnant women with preeclampsaia/eclampsia in northern afghanistan.

    PubMed

    Ahadi, Sayed Shir Mohammad; Yoshida, Yoshitoku; Rabi, Mirwais; Sarker, Mohammad Abul Bashar; Reyer, Joshua A; Hamajima, Nobuyuki

    2015-02-01

    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

  6. 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

  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. 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

  9. Novel Mutation of the GNE Gene Presenting Atypical Mild Clinical Feature: A Korean Case Report.

    PubMed

    Choi, Young-Ah; Park, Sung-Hye; Yi, Youbin; Kim, Keewon

    2015-06-01

    Glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase (GNE) myopathy is caused by mutations in GNE, a key enzyme in sialic acid biosynthesis. Here, we reported a case of GNE that presented with atypical mild clinical feature and slow progression. A 48-year-old female had a complaint of left foot drop since the age of 46 years. Electromyography (EMG) and muscle biopsy from left tibialis anterior muscle were compatible with myopathy. Genetic analysis led to the identification of c.1714G>C/c.527A>T compound heterozygous mutation, which is the second most frequent mutation in Japan as far as we know. Previous research has revealed that c.1714G>C/c.527A>T compound heterozygous mutation is a mild mutation as the onset of the disease is much later than the usual age of onset of GNE myopathy and the clinical course is slowly progressive. This was the first case report in Korea of the clinicopathological characteristics of GNE myopathy with GNE (c.1714G>C/c.527A>T compound heterozygous) mutation. PMID:26161358

  10. Novel Mutation of the GNE Gene Presenting Atypical Mild Clinical Feature: A Korean Case Report

    PubMed Central

    Choi, Young-Ah; Park, Sung-Hye; Yi, Youbin

    2015-01-01

    Glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase (GNE) myopathy is caused by mutations in GNE, a key enzyme in sialic acid biosynthesis. Here, we reported a case of GNE that presented with atypical mild clinical feature and slow progression. A 48-year-old female had a complaint of left foot drop since the age of 46 years. Electromyography (EMG) and muscle biopsy from left tibialis anterior muscle were compatible with myopathy. Genetic analysis led to the identification of c.1714G>C/c.527A>T compound heterozygous mutation, which is the second most frequent mutation in Japan as far as we know. Previous research has revealed that c.1714G>C/c.527A>T compound heterozygous mutation is a mild mutation as the onset of the disease is much later than the usual age of onset of GNE myopathy and the clinical course is slowly progressive. This was the first case report in Korea of the clinicopathological characteristics of GNE myopathy with GNE (c.1714G>C/c.527A>T compound heterozygous) mutation. PMID:26161358

  11. 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

  12. 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.

  13. Clinical features and CT/MRI findings of pancreatic acinar cell carcinoma

    PubMed Central

    Tian, Li; Lv, Xiao-Fei; Dong, Jun; Zhou, Jian; Zhang, Yu; Xi, Shao-Yan; Zhang, Rong; Xie, Chuan-Miao

    2015-01-01

    To retrospectively review the clinical features and computed tomography (CT) and magnetic resonance imaging (MRI) findings of PAAC so as to improve the accuracy of imaging diagnosis. Seventeen patients with pathologically proven PAAC were enrolled. Their clinical and imaging findings were retrospectively reviewed. The median age of the patients was 56 years (range, 7-74 years). The tumors were located in any part of the pancreas or exophyitc growth, with a median maximal diameter of 68 mm. Thirteen masses presented with ovoid shape. Nine masses had less clear boundaries. Eleven masses showed a variable degree of intratumoral hypodense or necrosis before contrast administration on CT images. Five masses showed hypointense on unenhanced T1 weighted images and hyperintense on T2 weighted images. After contrast administration, the most common enhancement pattern was slight enhancement on arterial phase and persistent enhancement on portal vein phase. Infiltration of tumor into duct and vessels was not common. Five and 2 patients developed hepatic metastasis and local lymphadenopathy, respectively. By the end of the last follow-up, 11 patients survived free of disease. PAAC should be included in the differential diagnosis when a bulky, ovoid, heterogeneous mass, with clear or less clear margins, in the pancreas or peripancreas, with slight and persistent enhancement after contrast administration on CT or MRI images is seen, particularly in elder men. PMID:26628966

  14. 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

  15. Classification and clinical features in 88 cases of equine cutaneous lymphoma.

    PubMed

    Miller, Craig A; Durham, Amy C; Schaffer, Paula A; Ehrhart, E J; Powers, Barb E; Duncan, Colleen G

    2015-01-01

    Equine cutaneous lymphoma is an uncommon disease that can present with variable clinical signs, immunosuppression, and rapid systemic disease progression. Various subtypes of equine lymphoma have been described and classified according to a veterinary adaptation of the World Health Organization classification system, but little data is available regarding the association between lymphoma subtypes and epidemiological criteria and/or clinical outcome. The objective of the current study was to classify previously diagnosed cases of equine cutaneous lymphoma and correlate subtypes with clinical data to investigate epidemiological trends and prognostic implications. Results from the study confirm T-cell-rich, large B-cell lymphoma (TCRLBCL) as the predominant subtype in equine cutaneous lymphoma. Cutaneous T-cell lymphoma (CTCL) was the second most common phenotype in the current study. To the authors' knowledge, a description of the morphological and immunohistochemical features of CTCL in horses, an epitheliotropic neoplasm similar to the cutaneous epitheliotropic lymphoma variant (mycosis fungoides) observed in human beings and canids, has not been previously described. Less common lymphoma subtypes identified in the study include diffuse large B-cell lymphoma and anaplastic large T-cell lymphoma. Quarter Horses almost exclusively developed TCRLBCL, while the frequency of CTCL was increased significantly in Thoroughbreds compared with other breeds. TCRLBCLs more frequently presented as multiple masses while CTCLs were more often solitary nodules. When multiple regions of the body were affected, 100% of cases were TCRBCL. Finally, there was an observable trend for longer survival in cases of TCRLBCL without local recurrence, suggesting adequate surgical excision may be an effective treatment modality. PMID:25525142

  16. 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

  17. Prospective study of POLG mutations presenting in children with intractable epilepsy: Prevalence and clinical features

    PubMed Central

    Uusimaa, Johanna; Gowda, Vasantha; McShane, Anthony; Smith, Conrad; Evans, Julie; Shrier, Annie; Narasimhan, Manisha; O'Rourke, Anthony; Rajabally, Yusuf; Hedderly, Tammy; Cowan, Frances; Fratter, Carl; Poulton, Joanna

    2013-01-01

    Purpose To assess the frequency and clinical features of childhood-onset intractable epilepsy caused by the most common mutations in the POLG gene, which encodes the catalytic subunit of mitochondrial DNA polymerase gamma. Methods Children presenting with nonsyndromic intractable epilepsy of unknown etiology but without documented liver dysfunction at presentation were eligible for this prospective, population-based study. Blood samples were analyzed for the three most common POLG mutations. If any of the three tested mutations were found, all the exons and the exon–intron boundaries of the POLG gene were sequenced. In addition, we retrospectively reviewed the notes of patients presenting with intractable epilepsy in which we had found POLG mutations. All available clinical data were collected by questionnaire and by reviewing the medical records. Key Findings We analyzed 213 blood DNA samples from patients fulfilling the inclusion criteria of the prospective study. Among these, five patients (2.3%) were found with one of the three common POLG mutations as homozygous or compound heterozygous states. In addition, three patients were retrospectively identified. Seven of the eight patients had either raised cerebrospinal fluid (CSF) lactate (n = 3) or brain magnetic resonance imaging (MRI) changes (n = 4) at presentation with intractable epilepsy. Three patients later developed liver dysfunction, progressing to fatal liver failure in two without previous treatment with sodium valproate (VPA). Furthermore, it is worth mentioning that one patient presented first with an autism spectrum disorder before seizures emerged. Significance Mutations in POLG are an important cause of early and juvenile onset nonsyndromic intractable epilepsy with highly variable associated manifestations including autistic features. This study emphasizes that genetic testing for POLG mutations in patients with nonsyndromic intractable epilepsies is very important for clinical diagnostics, genetic counseling, and treatment decisions because of the increased risk for VPA-induced liver failure in patients with POLG mutations. We recommend POLG gene testing for patients with intractable seizures and at least one elevated CSF lactate or suggestive brain MRI changes (predominantly abnormal T2-weighted thalamic signal) with or without status epilepticus, epilepsia partialis continua, or liver manifestations typical for Alpers disease, especially when the disease course is progressive. PMID:23448099

  18. 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

  19. 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.

  20. Biopathologic features and clinical significance of micrometatasis in the lymph node of early gastric cancer

    PubMed Central

    Jo, Min Jung; Park, Ji Yeon; Song, Joon Seon; Kook, Myeong-Cherl; Ryu, Keun Won; Cho, Soo-Jeong; Lee, Jun Ho; Nam, Byung-Ho; Hong, Eun Kyung; Choi, Il Ju; Kim, Young-Woo

    2015-01-01

    AIM: To evaluate the biopathologic features and clinical significance of nodal micrometastasis (MI) in early gastric cancer (EGC). METHODS: Among 1022 EGC patients who underwent gastrectomy with lymphadenectomy of D1 + ? or more from March 2001 to December 2005 at the Korean National Cancer Center, available nodal metastasis was found in 90 pT1N1 patients. Nodal metastasis was confirmed by immunohistochemistry (IHC) with cytokeratin and patients were classified into MI and macrometastasis (MA) groups based on the main tumor burden according to the 6th International Union Against Cancer/American Joint Committee on Cancer staging system; the main tumor burden with a diameter of greater than 0.2 mm but no greater than 2 mm as MI, and greater than 2 mm as MA of the representative metastatic node. Proliferative and apoptotic activities of the primary tumor and the nodal metastasis were measured by IHC with Ki-67 and terminal deoxynucleotidyl transferase dUTP nick end labeling, respectively. Biopathologic and clinical features of the patients were analyzed and compared between MI and MA groups. Patients with recurrence were compared with those without recurrence to identify risk factors for recurrence. RESULTS: Thirty-seven patients showed MI and the other 53 patients revealed MA in the lymph node; the incidence of patients with MI and MA was 41.1% and 58.9%. The main tumor burden was 0.9 and 4.6 mm in the representative metastatic node, respectively. Japanese N2 stations were more frequently involved in MA group (20.9%) than in MI group (10.3%) but the difference was not statistically different (P = 0.338). Proliferative and apoptotic activities of MI were decreased than those of MA (26.7% vs 40.5%, P = 0.004 and 1.0% vs 3.0%, P < 0.001, respectively). However, nodal MI in the current study showed a relatively high proliferative activity and an equivalent apoptotic activity compared to other cancers in the previously published studies. Recurrence was observed in 6 patients during the mean follow up period of 87.6 ± 26.2 mo. The recurrence was significantly associated with the presence of MA (P = 0.041) and lymphovascular invasion of the primary tumor (P = 0.032). CONCLUSION: Lymphadenectomy of D1 + ? or more might be necessary in patients with MI in sentinel node to prevent recurrence by clearing MI involving Japanese N2 station. PMID:25593497

  1. Glycine receptor antibodies in PERM and related syndromes: characteristics, clinical features and outcomes

    PubMed Central

    Carvajal-González, Alexander; Leite, M. Isabel; Waters, Patrick; Woodhall, Mark; Coutinho, Ester; Balint, Bettina; Lang, Bethan; Pettingill, Philippa; Carr, Aisling; Sheerin, Una-Marie; Press, Raomand; Lunn, Michael P.; Lim, Ming; Maddison, Paul; Meinck, H.-M.; Vandenberghe, Wim

    2014-01-01

    The clinical associations of glycine receptor antibodies have not yet been described fully. We identified prospectively 52 antibody-positive patients and collated their clinical features, investigations and immunotherapy responses. Serum glycine receptor antibody endpoint titres ranged from 1:20 to 1:60 000. In 11 paired samples, serum levels were higher than (n = 10) or equal to (n = 1) cerebrospinal fluid levels; there was intrathecal synthesis of glycine receptor antibodies in each of the six pairs available for detailed study. Four patients also had high glutamic acid decarboxylase antibodies (>1000 U/ml), and one had high voltage-gated potassium channel-complex antibody (2442 pM). Seven patients with very low titres (<1:50) and unknown or alternative diagnoses were excluded from further study. Three of the remaining 45 patients had newly-identified thymomas and one had a lymphoma. Thirty-three patients were classified as progressive encephalomyelitis with rigidity and myoclonus, and two as stiff person syndrome; five had a limbic encephalitis or epileptic encephalopathy, two had brainstem features mainly, two had demyelinating optic neuropathies and one had an unclear diagnosis. Four patients (9%) died during the acute disease, but most showed marked improvement with immunotherapies. At most recent follow-up, (2–7 years, median 3 years, since first antibody detection), the median modified Rankin scale scores (excluding the four deaths) decreased from 5 at maximal severity to 1 (P < 0.0001), but relapses have occurred in five patients and a proportion are on reducing steroids or other maintenance immunotherapies as well as symptomatic treatments. The glycine receptor antibodies activated complement on glycine receptor-transfected human embryonic kidney cells at room temperature, and caused internalization and lysosomal degradation of the glycine receptors at 37°C. Immunoglobulin G antibodies bound to rodent spinal cord and brainstem co-localizing with monoclonal antibodies to glycine receptor-?1. Ten glycine receptor antibody positive samples were also identified in a retrospective cohort of 56 patients with stiff person syndrome and related syndromes. Glycine receptor antibodies are strongly associated with spinal and brainstem disorders, and the majority of patients have progressive encephalomyelitis with rigidity and myoclonus. The antibodies demonstrate in vitro evidence of pathogenicity and the patients respond well to immunotherapies, contrasting with earlier studies of this syndrome, which indicated a poor prognosis. The presence of glycine receptor antibodies should help to identify a disease that responds to immunotherapies, but these treatments may need to be sustained, relapses can occur and maintenance immunosuppression may be required. PMID:24951641

  2. TDP-43 is a key player in the clinical features associated with Alzheimer’s disease

    PubMed Central

    Josephs, Keith A.; Whitwell, Jennifer L.; Weigand, Stephen D.; Murray, Melissa E.; Tosakulwong, Nirubol; Liesinger, Amanda M.; Petrucelli, Leonard; Senjem, Matthew L.; Knopman, David S.; Boeve, Bradley F.; Ivnik, Robert J.; Smith, Glenn E.; Jack, Clifford R.; Parisi, Joseph E.; Petersen, Ronald C.; Dickson, Dennis W.

    2014-01-01

    The aim of this study was to determine whether the TAR DNA-binding protein of 43kDa (TDP-43) independently has any effect on the clinical and neuroimaging features typically ascribed to Alzheimer’s disease (AD) pathology, and whether TDP-43 pathology could help shed light on the phenomenon of resilient cognition in AD. Three-hundred forty-two subjects pathologically diagnosed with AD were screened for the presence, burden and distribution of TDP-43. All had been classified as cognitively impaired or normal, prior to death. Atlas-based parcellation and voxel-based morphometry were used to assess regional atrophy on MRI. Regression models controlling for age at death, apolipoprotein ?4 and other AD-related pathologies were utilized to explore associations between TDP-43 and cognition or brain atrophy, stratified by Braak stage. Additionally, we determined whether the effects of TDP-43 were mediated by hippocampal sclerosis. One-hundred ninety-five (57%) cases were TDP-positive. After accounting for age, apolipoprotein ?4, and other pathologies, TDP-43 had a strong effect on cognition, memory loss, and medial temporal atrophy in AD. These effects were not mediated by hippocampal sclerosis. TDP-positive subjects were 10× more likely to be cognitively impaired at death compared to TDP-negative subjects. Greater cognitive impairment and medial temporal atrophy were associated with greater TDP-43 burden and more extensive TDP-43 distribution. TDP-43 is an important factor in the manifestation of the clinico-imaging features of AD. TDP-43 also appears to be able to overpower what has been termed resilient brain aging. TDP-43 therefore should be considered a potential therapeutic target for the treatment of AD. PMID:24659241

  3. Clinical and biochemical features guiding the diagnostics in neurometabolic cutis laxa.

    PubMed

    Gardeitchik, Thatjana; Mohamed, Miski; Fischer, Björn; Lammens, Martin; Lefeber, Dirk; Lace, Baiba; Parker, Michael; Kim, Ki-Joong; Lim, Bing C; Häberle, Johannes; Garavelli, Livia; Jagadeesh, Sujatha; Kariminejad, Ariana; Guerra, Deanna; Leão, Michel; Keski-Filppula, Riikka; Brunner, Han; Nijtmans, Leo; van den Heuvel, Bert; Wevers, Ron; Kornak, Uwe; Morava, Eva

    2014-07-01

    Patients with cutis laxa (CL) have wrinkled, sagging skin with decreased elasticity. Skin symptoms are associated with variable systemic involvement. The most common, genetically highly heterogeneous form of autosomal recessive CL, ARCL2, is frequently associated with variable metabolic and neurological symptoms. Progeroid symptoms, dysmorphic features, hypotonia and psychomotor retardation are highly overlapping in the early phase of these disorders. This makes the genetic diagnosis often challenging. In search for discriminatory symptoms, we prospectively evaluated clinical, neurologic, metabolic and genetic features in our patient cohort referred for suspected ARCL. From a cohort of 26 children, we confirmed mutations in genes associated with ARCL in 16 children (14 probands), including 12 novel mutations. Abnormal glycosylation and gyration abnormalities were mostly, but not always associated with ATP6V0A2 mutations. Epilepsy was most common in ATP6V0A2 defects. Corpus callosum dysgenesis was associated with PYCR1 and ALDH18A1 mutations. Dystonic posturing was discriminatory for PYCR1 and ALDH18A1 defects. Metabolic markers of mitochondrial dysfunction were found in one patient with PYCR1 mutations. So far unreported white matter abnormalities were found associated with GORAB and RIN2 mutations. We describe a large cohort of CL patients with neurologic involvement. Migration defects and corpus callosum hypoplasia were not always diagnostic for a specific genetic defect in CL. All patients with ATP6V0A2 defects had abnormal glycosylation. To conclude, central nervous system and metabolic abnormalities were discriminatory in this genetically heterogeneous group, although not always diagnostic for a certain genetic defect in CL. PMID:23963297

  4. Anatomical features and clinical importance of left atrial diverticula: MDCT findings.

    PubMed

    Genç, Berhan; Solak, Aynur; Kantarci, Mecit; Bayraktutan, Ummügülsüm; Ogul, Hayri; Yüceler, Zeynep; Oztürk, Ali; Kizrak, Ye?im

    2014-07-01

    To assess the anatomical features and clinical importance of left atrial diverticula and atrial accessory appendages in patients undergoing cardiac computed tomography with multidetector computed tomography. A total of 1305 consecutive patients (385 female, 29.5%; 920 male, 70.5%) were assessed using electrocardiogram-gated computed tomography between May 2010 and June 2013. The anatomical features and the prevalences of left atrial diverticula and left atrial accessory appendages were retrospectively assessed by four radiologists. The relationships between the prevalence and size of the diverticula and the age and gender of the patients were assessed. Among the 1305 patients, 610 (46.7%) exhibited 708 left atrial diverticula, and 62 (4.8%) exhibited left atrial accessory appendages. The most common locations of the left atrial diverticula were the right anterior superior wall (n?=?328, 46.3%) and the lateral superior wall (n?=?96, 13.5%). In addition to classical cystic and tubular diverticula, 49 (3.7%) of the patients exhibited mixed (cystic-tubular), conical, or hook-shaped diverticula and diverticular forms containing mural calcifications. There was no significant relationship between the prevalence of diverticula and the age and gender of the patients (P?>?0.05). In addition to tubular and cystic diverticula, the left atrial wall can host different diverticular forms (such as mixed, conical, calcific, and hook shaped). It could be beneficial to assess the left atrium using MDCT to determine the source of emboli in cryptogenic embolism and to reduce complications associated with interventional procedures performed for left atrial arrhythmias. PMID:24214737

  5. 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

  6. 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

  7. 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

  8. 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

  9. 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

  10. Observational study on Takotsubo-like cardiomyopathy: clinical features, diagnosis, prognosis and follow-up

    PubMed Central

    Cacciotti, Luca; Passaseo, Ilaria; Marazzi, Giuseppe; Camastra, Giovanni; Campolongo, Giuseppe; Beni, Sergio; Lupparelli, Fabrizio; Ansalone, Gerardo

    2012-01-01

    Objectives The present study attempts to identify appropriate elements that may contribute to clarify the broad clinical features (diagnosis, care, complication and prognosis) of Takotsubo-like cardiomyopathy for improving its management. Design study Observational study. Setting Primary level of care referred to the emergency department of Vannini Hospital, Rome, Italy. Participants The study population consisted of 75 patients, 72 of the them were women and 3 were men with a mean age of 71.9±9.6?years. Methods From February 2004 to November 2010, prospectively included 84 consecutive patients diagnosed for suspected Takotsubo-like cardiomyopathy. To be eligible, patients had to meet all the Mayo clinic criteria in the absence of neurological trauma or intracranial haemorrhage. Moreover, those patients that at follow-up still presented alteration of acute phase at ECG and echocardiogram were excluded. Thus, 75 patients comprised the study population. To follow-up 19 patients were lost. Results None of 75 patients died in acute phase. All patients were promptly discharged (8.4±4.4?days), since they recovered their normal functional status without symptoms. Follow-up information was available for 56 patients. At a mean follow-up time of 2.2±2?years (range, 0.1–6.8?years) two octogenarian patients (2.6%) died because of sudden cardiac death and pulmonary embolism, respectively. The Takotsubo-like cardiomyopathy recurred in one patient. Conclusions The results of this study support the previous reports about the good prognosis, also in critically ill patients, of Takotsubo-like cardiomyopathy. Further assessment will be needed to determine a careful and sustained follow-up for choosing the best care and foreseeing the recurrences of this emerging condition. PMID:23065445

  11. The clinical features of burns resulting from two aerial devices set off in a public fireworks display: 149 case reports.

    PubMed

    He, Xiaosheng; Sun, Dongjie; Zhong, Xiaochun; Liu, Maolin; Ni, Youdi

    2014-12-01

    We report the clinical features of 149 cases with aerial devices burns in a public fireworks display. The characteristic features included sudden onset, masses of terrified burn victims, small and deep wounds, mild disease conditions, and favorable prognosis. Unlike in home or illegal fireworks displays, the body areas most often involved were the extremity, chest, abdomen, and back, and most of the victims were adults in these public fireworks displays. PMID:24957358

  12. Investigating population dynamics of the Kumbh Mela through the lens of cell phone data

    E-print Network

    Onnela, Jukka-Pekka

    2015-01-01

    The Kumbh is a religious Hindu festival that has been celebrated for centuries. The 2013 Kumbh Mela, a grander form of the annual Kumbh, was purportedly the largest gathering of people in human history. Many of the participants carried cell phones, making it possible for us to use a data-driven approach to document this magnificent festival. We used Call Detail Records (CDRs) from participants attending the event, a total of 390 million records, to investigate its population dynamics. We report here on some of our preliminary findings.

  13. Sequence of Lacustrine Activity Within a Basin in Southwestern Melas Chasma, Mars

    NASA Astrophysics Data System (ADS)

    Williams, R. M.; Weitz, C. M.

    2013-12-01

    A perched basin located in southwestern Melas Chasma has widely been recognized as the site of a postulated paleolake. Valley networks converge from the east and west into an enclosed 30 x120 km basin and terminate in fan-shaped landforms. Fan deposits are interbedded with layered beds that are largely presumed to be lacustrine deposits. New details of the aqueous history in the Melas basin have been revealed from analysis of high-resolution image, topographic and spectral datasets from the THEMIS, HiRISE, HRSC, CTX, and CRISM instruments. We conducted a comprehensive examination of the diversity of fan-shaped landforms within the basin to characterize their morphology based on meter-scale images, evaluate their origin, and synthesize a history for the basin based on superposition relationships of the fans. Ten fan-shaped landforms have been identified which reflect various depositional environments and some fans reflect lake level(Figure 1). A distinctive megaripple marker bed, interpreted as aeolian bedforms, is within the lower levels of the exposed stratigraphic record. This observation, taken together with the stratigraphic succession of fan-shaped deposits, indicates fluctuating lake levels with, at a minimum, early and late-stage lake highstands. Landform scale was used to estimate average discharge (~30 m3/s), formative discharge (200-300 m3/s) and fan formation timescale, which further inform the duration of lacustrine activity within the basin. The synthesis of results from this study indicate the lacustrine period within the Melas basin lasted at least centuries to millennia, and included at least two highstands with an intervening lowstand or hiatus. Climate conditions conducive to lake stability had to be maintained for a duration long enough to build these fans. Localized aqueous alteration of the surface occurred after the lacustrine period, resulting in multiple hydrated silica (opal) outcrops within the basin. Figure 1: Study region and sketch map of ten fans within the southwestern Melas basin. Landslides (I1, J), debris flows (C1, D1), fan-deltas (C2, E, H), deltas (D2, F, G, I2), and deep sublacustrine (A, B) deposits are present within the basin. Orange region marked by * are deposits that may be associated with fan C1.

  14. 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.

  15. Epidemiology and clinical features of ciguatera fish poisoning in Hong Kong.

    PubMed

    Chan, Thomas Y K

    2014-10-01

    In the present review, the main objective was to describe the epidemiology and clinical features of ciguatera fish poisoning in Hong Kong. From 1989 to 2008, the annual incidence of ciguatera varied between 3.3 and 64.9 (median 10.2) per million people. The groupers have replaced the snappers as the most important cause of ciguatera. Pacific-ciguatoxins (CTX) are most commonly present in reef fish samples implicated in ciguatera outbreaks. In affected subjects, the gastrointestinal symptoms often subside within days, whereas the neurological symptoms can persist for weeks or even months. Bradycardia and hypotension, which can be life-threatening, are common. Treatment of ciguatera is primarily supportive and symptomatic. Intravenous mannitol (1 g/kg) has also been suggested. To prevent ciguatera outbreaks, the public should be educated to avoid eating large coral reef fishes, especially the CTX-rich parts. A Code of Practice on Import and Sale of Live Marine Fish for Human Consumption for Prevention and Control of Ciguatera Fish Poisoning was introduced from 2004 to 2013. The Food Safety Ordinance with a tracing mechanism came into full effect in February 2012. The Government would be able to trace the sources of the fishes more effectively and take prompt action when dealing with ciguatera incidents. PMID:25333356

  16. Cryptosporidiosis in HIV/AIDS Patients in Kenya: Clinical Features, Epidemiology, Molecular Characterization and Antibody Responses

    PubMed Central

    Wanyiri, Jane W.; Kanyi, Henry; Maina, Samuel; Wang, David E.; Steen, Aaron; Ngugi, Paul; Kamau, Timothy; Waithera, Tabitha; O'Connor, Roberta; Gachuhi, Kimani; Wamae, Claire N.; Mwamburi, Mkaya; Ward, Honorine D.

    2014-01-01

    We investigated the epidemiological and clinical features of cryptosporidiosis, the molecular characteristics of infecting species and serum antibody responses to three Cryptosporidium-specific antigens in human immunodeficiency virus (HIV)/acquired immunodeficiency syndrome (AIDS) patients in Kenya. Cryptosporidium was the most prevalent enteric pathogen and was identified in 56 of 164 (34%) of HIV/AIDS patients, including 25 of 70 (36%) with diarrhea and 31 of 94 (33%) without diarrhea. Diarrhea in patients exclusively infected with Cryptosporidium was significantly associated with the number of children per household, contact with animals, and water treatment. Cryptosporidium hominis was the most prevalent species and the most prevalent subtype family was Ib. Patients without diarrhea had significantly higher serum IgG levels to Chgp15, Chgp40 and Cp23, and higher fecal IgA levels to Chgp15 and Chgp40 than those with diarrhea suggesting that antibody responses to these antigens may be associated with protection from diarrhea and supporting further investigation of these antigens as vaccine candidates. PMID:24865675

  17. Epidemiology and Clinical Features of Ciguatera Fish Poisoning in Hong Kong

    PubMed Central

    Chan, Thomas Y. K.

    2014-01-01

    In the present review, the main objective was to describe the epidemiology and clinical features of ciguatera fish poisoning in Hong Kong. From 1989 to 2008, the annual incidence of ciguatera varied between 3.3 and 64.9 (median 10.2) per million people. The groupers have replaced the snappers as the most important cause of ciguatera. Pacific-ciguatoxins (CTX) are most commonly present in reef fish samples implicated in ciguatera outbreaks. In affected subjects, the gastrointestinal symptoms often subside within days, whereas the neurological symptoms can persist for weeks or even months. Bradycardia and hypotension, which can be life-threatening, are common. Treatment of ciguatera is primarily supportive and symptomatic. Intravenous mannitol (1 g/kg) has also been suggested. To prevent ciguatera outbreaks, the public should be educated to avoid eating large coral reef fishes, especially the CTX-rich parts. A Code of Practice on Import and Sale of Live Marine Fish for Human Consumption for Prevention and Control of Ciguatera Fish Poisoning was introduced from 2004 to 2013. The Food Safety Ordinance with a tracing mechanism came into full effect in February 2012. The Government would be able to trace the sources of the fishes more effectively and take prompt action when dealing with ciguatera incidents. PMID:25333356

  18. Correlation between CAG Repeat Length and Clinical Features in Machado-Joseph Disease

    PubMed Central

    Maciel, Patrícia; Gaspar, Claudia; DeStefano, Anita L.; Silveira, Isabel; Coutinho, Paula; Radvany, João; Dawson, David M.; Sudarsky, Lewis; Guimarães, João; Loureiro, Jose E. L.; Nezarati, Marjan M.; Corwin, Lee I.; Lopes-Cendes, Iscia; Rooke, Karen; Rosenberg, Roger; MacLeod, Patrick; Farrer, Lindsay A.; Sequeiros, Jorge; Rouleau, Guy A.

    1995-01-01

    Machado-Joseph disease (MJD) is associated with the expansion of a CAG trinucleotide repeat in a novel gene on 14q32.1. We confirmed the presence of this expansion in 156 MJD patients from 33 families of different geographic origins: 15 Portuguese Azorean, 2 Brazilian, and 16 North American of Portuguese Azorean descent. Normal chromosomes contain between 12 and 37 CAG repeats in the MJD gene, whereas MJD gene carriers have alleles within the expanded range of 62–84 CAG units. The distribution of expanded alleles and the gap between normal and expanded allele sizes is either inconsistent with a premutation hypothesis or most (if not all) of the alleles we studied descend from a common ancestor. There is a strong correlation between the expanded repeat size and the age at onset of the disease as well as the clinical presentation. There is mild instability of the CAG tract length with transmission of the expanded alleles; both increase and decrease in size between parents and progeny occur, with larger variations in male than in female transmissions. Together, these effects can partly explain the variability of age at onset and of phenotypic features in MJD; however, other modifying factors must exist. ImagesFigure 3 PMID:7611296

  19. 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

  20. 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

  1. 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

  2. Clinical features of amyotrophic lateral sclerosis in south-west China.

    PubMed

    Wei, Qianqian; Chen, Xueping; Zheng, Zhenzhen; Huang, Rui; Guo, Xiaoyan; Cao, Bei; Zhao, Bi; Shang, Huifang

    2015-12-01

    Our objective was to profile clinical features of amyotrophic lateral sclerosis (ALS); we performed a large sample, cross-sectional study based on a hospital registry of ALS in south-west China. Patients were coded in our tertiary referral centre from May 2006 to September 2014. Demographic data and disease-related parameters were collected. A total of 1131 patients were included. Mean age of onset was 54.3 ± 11.6 years and the highest proportion of onset age (30.6%) was between 51 and 60 years. Male:female ratio was 1.45:1. Nearly 30% of the patients were young onset, and 20.3% of the patients were bulbar onset; only 35% received riluzole treatment. The young-onset patients had a higher educational level with a higher proportion performing manual labour and living in rural areas, and a lower proportion with bulbar onset than those who were older at onset. The bulbar-onset patients were older at age of onset, with a lower proportion of males than spinal-onset patients. In conclusion, Chinese ALS patients may be younger at age of onset than Caucasian patients. Environmental and geographical factors are related to the occurrence of ALS. The large treatment gap indicated a pressing need for medical and financial support for Chinese ALS patients. PMID:26203659

  3. Clinical Features of Obstructive Sleep Apnea That Determine Its High Prevalence in Resistant Hypertension

    PubMed Central

    Min, Hyun Jin; Cho, Yang-Je; Kim, Chang-Hoon; Kim, Da Hee; Kim, Ha Yan; Choi, Ji In; Lee, Jeung-Gweon

    2015-01-01

    Purpose Resistant hypertension (HTN) occurs in 15-20% of treated hypertensive patients, and 70-80% of resistant hypertensive patients have obstructive sleep apnea (OSA). The characteristics of resistant HTN that predispose patients to OSA have not been reported. Therefore, we aimed to determine the clinical, laboratory, and polysomnographic features of resistant HTN that are significantly associated with OSA. Materials and Methods Hypertensive patients (n=475) who underwent portable polysomnography were enrolled. The patients were categorized into controlled (n=410) and resistant HTN (n=65) groups. The risk factors for the occurrence of OSA in controlled and resistant hypertensive patients were compared, and independent risk factors that are associated with OSA were analyzed. Results Out of 475 patients, 359 (75.6%) were diagnosed with OSA. The prevalence of OSA in resistant HTN was 87.7%, which was significantly higher than that in controlled HTN (73.7%). Age, body mass index, neck circumference, waist circumference, and hip circumference were significantly higher in OSA. However, stepwise multivariate analyses revealed that resistant HTN was not an independent risk factor of OSA. Conclusion The higher prevalence and severity of OSA in resistant HTN may be due to the association of risk factors that are common to both conditions. PMID:26256968

  4. 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

  5. The behavioural/dysexecutive variant of Alzheimer's disease: clinical, neuroimaging and pathological features.

    PubMed

    Ossenkoppele, Rik; Pijnenburg, Yolande A L; Perry, David C; Cohn-Sheehy, Brendan I; Scheltens, Nienke M E; Vogel, Jacob W; Kramer, Joel H; van der Vlies, Annelies E; Joie, Renaud La; Rosen, Howard J; van der Flier, Wiesje M; Grinberg, Lea T; Rozemuller, Annemieke J; Huang, Eric J; van Berckel, Bart N M; Miller, Bruce L; Barkhof, Frederik; Jagust, William J; Scheltens, Philip; Seeley, William W; Rabinovici, Gil D

    2015-09-01

    A 'frontal variant of Alzheimer's disease' has been described in patients with predominant behavioural or dysexecutive deficits caused by Alzheimer's disease pathology. The description of this rare Alzheimer's disease phenotype has been limited to case reports and small series, and many clinical, neuroimaging and neuropathological characteristics are not well understood. In this retrospective study, we included 55 patients with Alzheimer's disease with a behavioural-predominant presentation (behavioural Alzheimer's disease) and a neuropathological diagnosis of high-likelihood Alzheimer's disease (n = 17) and/or biomarker evidence of Alzheimer's disease pathology (n = 44). In addition, we included 29 patients with autopsy/biomarker-defined Alzheimer's disease with a dysexecutive-predominant syndrome (dysexecutive Alzheimer's disease). We performed structured chart reviews to ascertain clinical features. First symptoms were more often cognitive (behavioural Alzheimer's disease: 53%; dysexecutive Alzheimer's disease: 83%) than behavioural (behavioural Alzheimer's disease: 25%; dysexecutive Alzheimer's disease: 3%). Apathy was the most common behavioural feature, while hyperorality and perseverative/compulsive behaviours were less prevalent. Fifty-two per cent of patients with behavioural Alzheimer's disease met diagnostic criteria for possible behavioural-variant frontotemporal dementia. Overlap between behavioural and dysexecutive Alzheimer's disease was modest (9/75 patients). Sixty per cent of patients with behavioural Alzheimer's disease and 40% of those with the dysexecutive syndrome carried at least one APOE ?4 allele. We also compared neuropsychological test performance and brain atrophy (applying voxel-based morphometry) with matched autopsy/biomarker-defined typical (amnestic-predominant) Alzheimer's disease (typical Alzheimer's disease, n = 58), autopsy-confirmed/Alzheimer's disease biomarker-negative behavioural variant frontotemporal dementia (n = 59), and controls (n = 61). Patients with behavioural Alzheimer's disease showed worse memory scores than behavioural variant frontotemporal dementia and did not differ from typical Alzheimer's disease, while executive function composite scores were lower compared to behavioural variant frontotemporal dementia and typical Alzheimer's disease. Voxel-wise contrasts between behavioural and dysexecutive Alzheimer's disease patients and controls revealed marked atrophy in bilateral temporoparietal regions and only limited atrophy in the frontal cortex. In direct comparison with behavioural and those with dysexecutive Alzheimer's disease, patients with behavioural variant frontotemporal dementia showed more frontal atrophy and less posterior involvement, whereas patients with typical Alzheimer's disease were slightly more affected posteriorly and showed less frontal atrophy (P < 0.001 uncorrected). Among 24 autopsied behavioural Alzheimer's disease/dysexecutive Alzheimer's disease patients, only two had primary co-morbid FTD-spectrum pathology (progressive supranuclear palsy). In conclusion, behavioural Alzheimer's disease presentations are characterized by a milder and more restricted behavioural profile than in behavioural variant frontotemporal dementia, co-occurrence of memory dysfunction and high APOE ?4 prevalence. Dysexecutive Alzheimer's disease presented as a primarily cognitive phenotype with minimal behavioural abnormalities and intermediate APOE ?4 prevalence. Both behavioural Alzheimer's disease and dysexecutive Alzheimer's disease presentations are distinguished by temporoparietal-predominant atrophy. Based on the relative sparing of frontal grey matter, we propose to redefine these clinical syndromes as 'the behavioural/dysexecutive variant of Alzheimer's disease' rather than frontal variant Alzheimer's disease. Further work is needed to determine whether behavioural and dysexecutive-predominant presentations of Alzheimer's disease represent distinct phenotypes or a single continuum. PMID:26141491

  6. The prognostic significance of clinical and pathological features in hepatocellular carcinoma

    PubMed Central

    Qin, Lun-Xiu; Tang, Zhao-You

    2002-01-01

    The prognosis of patients with HCC still remains dismal. The life expectancy of HCC patients is hard to predict because of the high possibility of postoperative recurrence. Many factors, such as patient's general conditions, macroscopic tumor morphology, as well as tumor hitopathology features, have been proven of prognostic significance. Female HCC patient often has a better prognosis than male patient, which might be due to the receptor of sex hormones. Younger patients often have tumors with higher invasiveness and metastatic potentials, and their survival and prognosis are worse than the older ones. Co-existing hepatitis status and hepatic functional reserve have been confirmed as risk factors for recurrence. Serum alpha-fetoprotein (AFP) is useful not only for diagnosis, but also as a prognostic indicator for HCC patients. AFP mRNA has been proposed as a predictive marker of HCC cells disseminated into the circulation and for metastatic recurrence. Many pathologic features, such as tumor size, number, capsule state, cell differentiation, venous invasion, intrahepatic spreading, and advanced pTNM stage, are the best-established risk factors for recurrence and important aspects affecting the prognosis of patients with HCC. Marked inflammatory cell infiltration in the tumor could predict a better prognosis. Clinical stage is still the most important factor influencing on the prognosis. Extratumor spreading and lymph nodal metastasis are independent predictors for poor outcome. Some new predictive systems have recently been proposed. Different strategies of treatment might have significant different effects on the patients' prognosis. To date, surgical resection is still the only potentially curative treatment for HCC, including localized postoperative recurrences. Extent of resection, blood transfusion, occlusion of porta hepatis, and blood loss affect the survival and prognosis of HCC patients. Regional therapies provide alternative ways to improve the prognosis of HCC patients who have no opportunity to receive surgical treatment or postoperative recurrence. The combination of these treatment modalities is hopeful to further improve the prognosis. The efficacies of neoadjuvant (preoperative) or adjuvant (postoperative) chemotherapy or chemoembolization in preventing recurrence and on the HCC prognosis still remain great controversy, and deserves further evaluation. Biotherapy, including IFN-alpha therapy, will play more important role in preventing recurrence and metastasis of HCC after operation. PMID:11925590

  7. Clinical features and types of articular involvement in patients with psoriatic arthritis.

    PubMed

    Dönmez, Salim; Pamuk, Ömer Nuri; Akker, Mustafa; Ak, Recep

    2015-06-01

    Psoriatic arthritis (PsA) is a psoriasis-associated inflammatory arthritis which causes joint destruction. There are some epidemiologic data about PsA; however, there are no sufficient data from Turkey. Herein, we evaluated the frequency of PsA in the Thrace region of Turkey according to hospital-based data. In addition, we evaluated clinical features and types of joint involvement in PsA patients. We included 172 PsA patients fulfilling CASPAR criteria admitted to the Division of Rheumatology, Trakya University Medical Faculty, between 2003 and 2012. Data from Turkish Statistical Institution was used to calculate the incidence and prevalence of PsA. Patients' demographic features, durations of psoriasis and PsA, number of tender and swollen joints, treatment modalities, laboratory data, and X-ray film findings were recorded from hospital files. The annual incidence of PsA was 2.8/100,000. The mean annual incidence was 3.47/100,000 in females and 2.15/100,000 in males. The overall prevalence of PsA in our region was 27.9/100,000 (95 % confidence interval (CI) 23.7-32.1) in individuals >16 years. The prevalence of PsA was higher in females than in males (34.7/100,000 vs. 21.5/100,000). Polyarthritis was present in 67 (38.9 %), oligoarthritis in 47 (27.3 %), spondyloarthritis in 39 (22.6 %), and distal interphalangeal (DIP) arthritis in 19 (11.0 %) patients. The duration of psoriasis was significantly longer in polyarticular PsA patients than in DIP and oligoarticular groups (p values?=?0.016 and 0.018, respectively). The number of swollen joints correlated with age (r?=?0.21, p?=?0.006), duration of psoriasis (r?=?0.20, p?=?0.01), number of tender joints (r?=?0.92, p???0.001), ESR (r?=?0.24, p?=?0.001), and CRP (r?=?0.17, p?=?0.026). The frequency of PsA in Thrace region is similar to that in low-frequency regions. The most frequent type of involvement was polyarticular, and it correlated with the duration of psoriasis and erosive disease. PMID:25066919

  8. Visceral leishmaniasis in Iran: Review of the Epidemiological and Clinical Features

    PubMed Central

    Mohebali, Mehdi

    2013-01-01

    Visceral leishmaniasis (VL) is a life-threatening vector-borne parasitic disease is distributed in some parts of the new world and old world. The disease is endemic in different parts of Iran. This review article has been focused on major topics of epidemiological aspects and clinical features of VL in Iran for the period of 2002 through 2012. For the detection of VL in humans as well as animal reservoir hosts, anti-Leishmania antibodies were detected using direct agglutination test (DAT) as a validated serological test. Parasitological examinations were performed on suspected VL patients as well as canines and rodents. Different molecular methods were used for identification of species and genotype/ or strain of Leishmania spp. isolated from infected humans, animal reservoir hosts and vectors. Altogether, 1698 out of 36081 (4.7%) human serum samples collected from 5 distinct geographical zones showed anti-Leishmania antibodies at titers ? 1:3200 using DAT. The majority of VL cases in the endemic areas were found among children up to 12 years old. Almost 75% of DAT-positive cases (?1:3200) in endemic areas showed clinical signs and symptoms. Predominant signs and symptoms in 217 hospitalized patients with DAT positive (?1:3200) results included paleness (99.5%), fever (96.9%), splenomegaly (91.5%), hepatomegaly (53.6%) and lymphadenopathy (21.1%). Integrated VL surveillance system in primary care using DAT, could decrease mortality and morbidity of the disease in the VL endemic areas of the northwestern Iran. Out of 7204 serum samples collected from domestic dogs in various geographical locations of Iran, 879 (12.2%) were DAT sero-positive at titers ? 1:320. L. infantum as the principal causative agent of the disease was isolated from infected humans, domestic and wild canines and rodents. The principal animal reservoir hosts of the infection are domestic and wild canines. Ph. kandelakii, Ph. perfiliewi transcaucasicus, Ph. tobbi in northwestern Iran; Ph. major s.l. (=Ph. neglectus), Ph. keshishiani, and Ph. alexandri in southern parts of Iran were molecularly and/or parasitologically positive for L. infantum infections. The zoonotic form of VL (ZVL) caused by L. infantum occurs sporadically in all geographical zones of Iran but in northwestern and southern parts of the country the disease is endemic. DAT as an appropriate and potential tool has been used for sero-diagnosis and sero-epidemiological of VL among humans as well as domestic and wild canines. PMID:24454426

  9. Correlations Between the EGFR Mutation Status and Clinicopathological Features of Clinical Stage I Lung Adenocarcinoma

    PubMed Central

    Isaka, Tetsuya; Yokose, Tomoyuki; Ito, Hiroyuki; Nagata, Masashi; Furumoto, Hideyuki; Nishii, Teppei; Katayama, Kayoko; Yamada, Kouzo; Nakayama, Haruhiko; Masuda, Munetaka

    2015-01-01

    Abstract Advanced lung cancers with epidermal growth factor receptor (EGFR) exon 19 deletions (Ex19s) and EGFR exon 21 L858R point mutations (Ex21s) exhibit different clinical behavior. However, these differences are unclear in resectable primary lung tumors. The clinicopathological features of 88 (20.9%) Ex19, 124 (29.4%) Ex21, and 198 (46.9%) EGFR wild-type (Wt) clinical stage I primary adenocarcinomas resected between January 1, 2012 and October 31, 2014 were compared by using Chi-square tests, residual error analysis, analysis of variance, and Tukey tests. Ex21 lesions occurred more frequently in women and never-smokers and had a higher tumor disappearance rate (TDR: 59.6% vs 43.9%; P?

  10. Risk factors and clinical features of ovarian pregnancy: a case–control study

    PubMed Central

    Zhu, Qian; Li, Cheng; Zhao, Wei-Hong; Yuan, Jiang-Jing; Yan, Ming-Xing; Qin, Guo-Juan; Zhang, Jian

    2014-01-01

    Objective To identify risk factors for ovarian pregnancy (OP) and compare clinical features between OP and tubal pregnancy (TP) patients. Design Case–control study. Setting University hospital. Participants A case–control study was conducted from January 2005 to May 2014. Women diagnosed with OP were recruited as the case group (n=71), 145 women with TP and 146 with intrauterine pregnancy (IUP) were matched as controls at a ratio of 1:2:2. Women who refused interviews or provided incomplete information were excluded. Results OP risk was lower than TP risk in women with serological evidence of Chlamydia trachomatis infection (adjusted OR1 0.17, 95% CI 0.06 to 0.52), previous adnexal surgery (adjusted OR1 0.25, 95% CI 0.07 to 0.95), and current levonorgestrel emergency contraceptive use (adjusted OR1 0.24, 95% CI 0.07 to 0.78). In vitro fertilisation-embryo transfer (IVF-ET) carried a higher risk of OP (adjusted OR1 12.18, 95% CI 2.23 to 66.58) than natural conception. When Controlled by IUP women, current users of intrauterine devices (IUDs) carried a higher risk of OP than non-users of any contraceptives (adjusted OR2 9.60, 95% CI 1.76 to 42.20). ?-Human chorionic gonadotropin (hCG) levels on the day of surgery were higher in OP patients than in TP patients (p<0.01). Women with OP were less likely to initially present with vaginal bleeding than those with TP (p=0.02). Moreover, shock (p=0.02), rupture (p<0.01), haemoperitoneum (p<0.01) and emergency laparotomy (p<0.01) were more common in the OP group than in the TP group. Conclusions IVF-ET and IUD use may be risk factors for OP, and OP patients tend to have high ?-hCG levels and a poor clinical outcome (shock, rupture, haemoperitoneum and need for emergency laparotomy). Our findings may contribute to the prevention and early diagnosis of OP. PMID:25472658

  11. 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

  12. 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

  13. Clinical Features of Fixed Drug Eruption at a Tertiary Hospital in Korea

    PubMed Central

    Jung, Jae-Woo; Cho, Sang-Heon; Kim, Kyu-Han; Min, Kyung-Up

    2014-01-01

    Purpose Fixed drug eruption (FDE) is characterized by a well-defined erythematous patch, plaque, or bullous eruption that recurs at the same site as the result of systemic exposure to a causative drug, and resolves with or without hyperpigmentation. This study was carried out to identify the common causative drugs and clinical features of FDE in Korea. Methods We reviewed electronic medical records of all patients diagnosed with FDE from January 2000 to December 2010 at a tertiary hospital in Korea. Results A total of 134 cases were diagnosed as FDE. The mean age was 35.9 years (range, 0-82 years) and 69 (51.5%) of the patients were male. The mean duration from the first event to attending hospital was 1.9 years (range, 1-20 years). The mean number of recurrences was 2.6 (1-10), and 72.6% of patients sought medical care after experiencing symptoms twice or more. Four patients (3.1%) needed hospitalization. The most common sites were the upper extremities (47.7%), followed by the lower extremities, face, abdomen, chest, buttocks and perineum. Clear documentation on the causative drugs was available for 38 patients (28.4%), and among these, non-steroidal anti-inflammatory drugs (NSAIDs) and acetaminophen accounted for 71.1% of cases, and antibiotics accounted for 15.8%. Eighty patients (59.7%) underwent active treatment for FDE, and topical steroids were most frequently prescribed (43.3%), with systemic steroids used in 11.2% of patients. Conclusions NSAIDs and acetaminophen were the main causative agents of FDE, however, the causative agents were not assessed in 25% of patients. PMID:25228998

  14. Clinical features and outcomes of systemic amyloidosis with gastrointestinal involvement: a single-center experience

    PubMed Central

    Lim, A Young; Lee, Ji Hyeon; Jung, Ki Sun; Gwag, Hye Bin; Kim, Do Hee; Kim, Seok Jin; Lee, Ga Yeon; Kim, Jung Sun; Kim, Hee-Jin; Lee, Soo-Youn; Lee, Jung Eun; Jeon, Eun-Seok

    2015-01-01

    Background/Aims The gastrointestinal (GI) tract often becomes involved in patients with systemic amyloidosis. As few GI amyloidosis data have been reported, we describe the clinical features and outcomes of patients with pathologically proven GI amyloidosis. Methods We identified 155 patients diagnosed with systemic amyloidosis between April 1995 and April 2013. Twenty-four patients (15.5%) were diagnosed with GI amyloidosis using associated symptoms, and the diagnoses were confirmed by direct biopsy. Results Among the 24 patients, 20 (83.3%) had amyloidosis light chain (AL), three (12.5%) had amyloid A, and one (4.2%) had transthyretin-related type amyloidosis. Their median age was 57 years (range, 37 to 72), and 10 patients were female (41.7%). The most common symptoms of GI amyloidosis were diarrhea (11 patients, 45.8%), followed by anorexia (nine patients, 37.5%), weight loss, and nausea and/or vomiting (seven patients, 29.2%). The histologically confirmed GI tract site in AL amyloidosis was the stomach in 11 patients (55.0%), the colon in nine (45.0%), the rectum in seven (35.0%), and the small bowel in one (5.0%). Patients with GI involvement had a greater frequency of organ involvement (p = 0.014). Median overall survival (OS) in patients with GI involvement was shorter (7.95 months; range, 0.3 to 40.54) than in those without GI involvement (15.84 months; range, 0.0 to 114.53; p = 0.069) in a univariate analysis. A multivariate analysis of prognostic factors for AL amyloidosis revealed that GI involvement was not a significant predictor of OS (p = 0.447). Conclusions The prognosis of patients with AL amyloidosis and GI involvement was poorer than those without GI involvement, and they presented with more organ involvement and more advanced disease than those without organ involvement. PMID:26161016

  15. Clinical features and prognosis of paraquat poisoning: a review of 41 cases

    PubMed Central

    Delirrad, Mohammad; Majidi, Mohammad; Boushehri, Behzad

    2015-01-01

    Purpose: Paraquat is a contact herbicide which is highly toxic to human. Deliberate self-poisoning with paraquat continues to be a major public health concern in many developing countries. This study aimed to evaluate the data on cases of acute paraquat poisoning and to compare different variables between survivors and non-survivors. Methods: In this cross sectional study, medical records of all paraquat intoxicated patients were reviewed at Taleghani hospital of Urmia, Iran, from 2007 to 2013, retrospectively. Demographics, clinical features and laboratory findings were evaluated. The variables compared between survivors and non-survivors were the amount of paraquat ingested, occurrence of vomiting after ingestion, time and place of hospital admission, length of hospital stay, leukocytosis, serum creatinine level and the outcomes. Results: A total of 41 patients were evaluated. The mean ± standard deviation of patients’ age were 31.6±16.9 years. The Length of hospital stay was 5.75±4.6 days. Most poisonings occurred in spring and summer. The in-hospital fatality rate was 46.3%. Statistically significant associations were found between the outcome of patients and the amount ingested (P=0.001), vomiting (P=0.004), early need to intensive cares (P=0.009), leukocytosis (P=0.001), serum creatinine levels (P=0.001), manifestations of acute hepatic (P<0.001) and respiratory failure (P=0.007). Conclusion: Ingestion of more than 30 ml, prompt vomiting, early need to intensive cares, leukocytosis, and multi-organ failures are major determinants for fatal outcome of paraquat poisoning. It may be useful to educate health professionals and the general population about the serious consequences of exposure to paraquat. PMID:26221379

  16. Oncocytic carcinoma of parotid gland: a case report with clinical, immunohistochemical and ultrastructural features

    PubMed Central

    Giordano, Giovanna; Gabrielli, Marzio; Gnetti, Letizia; Ferri, Teore

    2006-01-01

    Background Oncocytic carcinoma is an extremely rare neoplasm of the salivary glands. We report a case of oncocytic carcinoma arising in a parotid gland in a 66-year-old female. Method An excisional biopsy of the parotid tumor was performed. The specimen was submitted for histology and after fixation in formalin solution and inclusion in paraffin, 3–5 ?m sections were stained with hematoxylin and eosin for conventional evaluation and Periodic acid Schiff stain. Immunohistochemical studies were performed using antibodies against mitochondrial antigen, keratin, S-100, alpha-actin, vimentin, alpha-1-antichymotrypsin as well as an ultrastructural analysis was performed. Results Frozen sections revealed an infiltrative growth pattern and the diagnosis of a malignant epithelial lesion was made. Permanent sections stained with haematoxylin and eosin revealed a neoplasm that had replaced a wide area of the parotid gland and had invaded subcutaneous adipose tissue. Perineural invasion was evident, but vascular invasion was not found. Neoplastic elements were large, round or polyhedral cells and were arranged in solid sheets, islands and cords. The cytoplasm was abundant, eosinophilic and finely granular. The nuclei were large and located centrally or peripherally. The nucleoli were distinct and large. Periodic acid Schiff stain demonstrated a granular cytoplasm. Immunohistochemistry demonstrated mithochondrial antigen, keratin, and chymotrypsin immunoreactivity in the neoplastic cells. Ultrastructural analysis revealed numerous mitochondria packed into the cytoplasm of the neoplastic cells. Thus, the final diagnosis was that of oncocytic carcinoma of parotid gland. Conclusion This neoplasm shows clinical, microscopical, histological and ultrastructural features of oncocytic carcinoma and this must be considered in the differential diagnosis of other proliferations in the parotid gland with abundant granular cytoplasm and metastatic oncocytic carcinomas. PMID:16923179

  17. Epidemiology, Clinical Features, and Prescribing Patterns of Aortic Aneurysm in Asian Population From 2005 to 2011

    PubMed Central

    Wang, Shih-Wei; Huang, Yaw-Bin; Huang, Jiann-Woei; Chiu, Chaw-Chi; Lai, Wen-Ter; Chen, Chung-Yu

    2015-01-01

    Abstract Aortic aneurysm (AA) is a leading cause of death in Asia and the world. The prevalence in Western countries is around 1.3% to 8%. However, it is still unclear about the incidence, prevalence, and mortality of AA in Asian population. The aim of this study is to investigate the epidemiology of AA for all subtypes in Taiwan, and describe the clinical features and prescribing patterns for AA population. A population-based study was conducted using information from National Health Insurance Research Database (NHIRD) in Taiwan. Patients who were diagnosed with AA and also received computed tomography (CT) were included in this study. Incidence, prevalence, and mortality were calculated in each year during 2005 to 2011. Prevalent comorbidities and prescribing patterns were both evaluated among study population. The average annual incidence of AA in Taiwan was 7.35 per 100,000 population, and the prevalence was 29.04 per 100,000 population. It showed an increased trend of incidence from 2005 to 2011, so as prevalence and mortality. The incidence was associated with age and sex difference. It was much higher in those older than 65 years, especially for male. Hypertension, coronary artery disease (CAD), and chronic obstructive pulmonary disease (COPD) were prevalent comorbidities. Eighty-eight percentages of patients were prescribed antihypertensive agents in acute phase, where 61.4% of calcium channel blocker (CCB) was the most one. Our study found that incidence of AA was lower in Taiwan than in other countries. Nevertheless, it showed an increased trend of AA disease for incidence, prevalence, and also mortality during 2005 to 2011. PMID:26469911

  18. Clinical features & risk factors associated with cryptosporidiosis in HIV infected adults in India

    PubMed Central

    Ajjampur, S.S. Rao; Asirvatham, J.R.; Muthusamy, Dheepa; Gladstone, B.P.; Abraham, O.C.; Mathai, Dilip; Ward, Honorine; Wanke, Christine

    2009-01-01

    Background & objectives Cryptosporidiosis is a leading cause of protracted, life threatening diarrhoea in HIV infected patients. Although data on prevalence are available for Indian patients, no information on risk factors for transmission exists. We therefore undertook this study to identify risk factors for transmission of cryptosporidiosis in HIV infected adults. Methods Both symptomatic (diarrhoeal) and asymptomatic HIV infected patients were screened for cryptosporidiosis. All Cryptosporidium spp. positive cases were enrolled in the study and interviewed to record socio-demographic information, water supply and animal contact. Data were analysed to study clinical features and potential association with species and genotype. Results Of the 28 cryptosporidial infections identified on screening 111 HIV positive patients with diarrhoea, 10 (35.7%) had chronic diarrhoea, 14 (50%) had associated fever and 8 (28.6%) had nausea. Symptomatic patients had a significantly higher number of co-infections with other enteric parasites (P=0.04) than 20 asymptomatics of 423 HIV positive individuals screened. Eleven of 17 (64%) patients with potentially zoonotic infections had diarrhoea. Patients with zoonotic species (64%) also tended to have fever more frequently than those infected with C. hominis (58%). Association between area of residence, rural or urban, water source and contact with animals and acquisition of cryptosporidiosis was not statistically significant. Interpretation & conclusions Cryptosporidiosis is an important cause of morbidity in HIV infected individuals in India, resulting in chronic diarrhoea. Risk factors for potentially zoonotic transmission of cryptosporidiosis were described in this study, but larger studies need to be done for a clearer understanding of the transmission dynamics of different cryptosporidial species in developing countries. PMID:18219083

  19. Clinical features of airway malacia in children: a retrospective analysis of 459 patients

    PubMed Central

    Pan, Wei; Peng, Donghong; Luo, Jian; Liu, Enmei; Luo, Zhengxiu; Dai, Jihong; Fu, Zhou; Li, Qubei; Huang, Ying

    2014-01-01

    Aim: To investigate the clinical features of airway malacia in children. Material and methods: A comprehensive analysis was done on information of 459 young patients with airway malacia. Results: Number of children with tracheomalacia, tracheobronchomalacia, and bronchomalacia was 7 (1.5%), 17 (3.7%), and 435 (94.8%), respectively. Incidence of bronchomalacia in left lung was 11.0% (n=48), while that of right lung was 53.3% (n=232). Meanwhile, bronchomalacia of both lungs were noticed in 155 children (35.6%). With regards to the extent of malacia, number of children with slight, moderate and severe malacia was 226, 195, and 38, respectively. All the children enrolled in this study were diagnosed with pulmonary infection, among which 376 were diagnosed with ordinary pneumonia, 83 were diagnosed with severe pneumonia. 227 children showed a disease course of less than 1 month, while 201 children reported a disease course of 1~3 months, and 31 children reported a disease course of more than 3 months. Statistical difference was noticed in the disease condition of respiratory tract infection of patients with various malacia extent (P < 0.05). Re-check of fiberoptic bronchoscopy was performed in 19 patients, among which 14 patients (73.7%) showed improvement compared with the previous conditions. Conclusion: Airway malacia has been frequently noticed in male children aged ? 2 years old. Patients with severe airway malacia were apt to develop severe pneumonia compared with those with slight or moderate malacia. Improvements or even elimination of malacia were noticed with the aging of the children and the anti-infection therapy. PMID:25356175

  20. The impact of Highly Active Antiretroviral Therapy (HAART) on the clinical features of HIV - related oral lesions in Nigeria

    PubMed Central

    2010-01-01

    Background This study aimed to determine the therapeutic effects of highly active anti-retroviral therapy (HAART) on the clinical presentations of HIV related oral lesions (HIV-ROLs) in an adult Nigerian population. Methods A 5 month prospective study on HAART naïve HIV positive adults recruited into the HAART program of an AIDS referral centre. HIV-ROLs were diagnosed clinically by the EEC Clearinghouse on oral problems related to HIV infection. Baseline clinical features of HIV-ROLs was documented by clinical photographs using SONY® 5.2 M Cybershot digital camera. Post HAART monthly review was conducted using clinical photographs. Results A total of 142 patients were seen. Age range was 19 - 75 years. Mean age was 35.6 ± 10.5 (SD). Eighty (56.3%) were females. Prevalence of HIV-ROLs was 43.7%. Oral candidiasis (22.4%) was the most prevalent HIV-ROL. 114 (83.2%) patients had clinical AIDS at presentation (CDC 1993). 89.4% were placed on Tenofovir/Emtricitabine +`Nevirapine, 9.9% on Tenofovir/Emtricitabine + Efavirenz. There was strong decline in the clinical features of oral candidiasis from a month of commencing HAART. Oral hairy leukoplakia was slow in responding to HAART. Parotid gland enlargement, melanotic hyperpigmentation and Kaposi's sarcoma were more persistent and had slower response to HAART. There was no clinical change noticed in linear gingival erythema. Conclusion HAART has different clinical effects on HIV related oral lesions depending on the size, duration of treatment and etiology of the lesions. HIV-ROLs of fungal origin have the fastest response to HAART. These lesions alongside immunologic parameters can be used as indicators of success or failure of antiretroviral therapy. PMID:20579347

  1. Comparative analysis of clinical and computed tomography features of basal skull fractures in head injury in southwestern Nigeria

    PubMed Central

    Olabinri, Eunice O.; Ogbole, Godwin I.; Adeleye, Amos O.; Dairo, David M.; Malomo, Adefolarin O.; Ogunseyinde, Ayotunde O.

    2015-01-01

    Background: Basal skull fractures (BSF) in head injury may be missed clinically. Early detection ensures prompt treatment and prevention of complications We compared the clinical and Computed Tomography (CT) features of basal skull fractures in head injured patients in a southwestern Nigerian hospital. Materials and Methods: Head injury patients who had cranial CT at a Southwestern Nigerian hospital were selected. CT images were acquired with a 64-slice Toshiba Aquillion CT scanner using a standard head protocol. The images were evaluated for evidence of skull fractures, and associated complications. The clinical data and CT findings were analyzed. Results: One hundred and thirty patients were evaluated, including 103 (79.2%) males. Their ages ranged between 7 months and 81 years, mean 35 years (SD, 20.3). In 59 patients (45.4%, 59/130) BSF was detected on CT, while 71 (54.6%) had no evidence BSF. Forty-two (71.2%) of the 59 patients detected on CT had clinical suspicion of BSF (P < 0.001) while the remaining 17 (28.8%) were not clinically diagnosed. This equaled a sensitivity of 71.2% and, specificity of 90.1% for clinical determination of BSF in this study. There was no statistically significant difference between clinical and CT diagnosis (P > 0.05). The commonest observed clinical feature in patients with confirmed BSF was otorrhagia (45.8%) and the petrous temporal bone (45.8%) was the most commonly fractured bone. The BSF was caused most commonly by motor bike accidents in 53 (40.8%). The most common associated intracranial injuries were intracerebral haemorrhage (34.6%) and subdural (17.3%) Conclusion: It appears that neurosurgical evaluation is comparatively reliable in evaluating basal skull fractures in this study area even as they are consistently demonstrated by high resolution CT scanners. A clinical suspicion of BSF should warrant a closer detailed CT evaluation and reporting by radiologists. PMID:25883468

  2. [Specific clinical and immunological features of chronic diseases of the nasal-associated lymphoid tissue in the children].

    PubMed

    Beniova, S N; Taranova, S V; Babko, S V

    2014-01-01

    The objective of the present work was to study the structure, clinical, and immunological features of various etiological variants of chronic diseases of the nasal-associated lymphoid tissue in the children. A total of 142 children at the age from 3 to 7 years presenting with this pathological condition were available for the observation. The study revealed differences in the clinical course of the disease and the cytokine response (IL-6, Ril-6, TNF, sYNFR55, sTNFR75) at the local and systemic levels for different pathogens (S. aureus, S. pneumoniae, S. pyrogenes). PMID:25377675

  3. ASCO Features CT Lung Cancer Screening for 2015 Clinical Cancer Advances

    Cancer.gov

    Hormuzd Katki and Anil Chaturvedi The work of Hormuzd A. Katki, Ph.D., Anil K. Chaturvedi, Ph.D., and colleagues, was recognized by the American Society of Clinical Oncology in Clinical Cancer Advances 2015: Annual Report on Progress Against Cancer. The

  4. Baseline OCT Measurements in the Idiopathic Intracranial Hypertension Treatment Trial, Part II: Correlations and Relationship to Clinical Features

    PubMed Central

    2014-01-01

    Purpose. The accepted method to evaluate and monitor papilledema, Frisén grading, uses an ordinal approach based on descriptive features. Part I showed that spectral-domain optical coherence tomography (SD-OCT) in a clinical trial setting provides reliable measurement of the effects of papilledema on the optic nerve head (ONH) and peripapillary retina, particularly if a 3-D segmentation method is used for analysis.1 We evaluated how OCT parameters are interrelated and how they correlate with vision and other clinical features in idiopathic intracranial hypertension (IIH) patients. Methods. A total of 126 subjects in the IIH Treatment Trial (IIHTT) OCT substudy had Cirrus SD-OCT optic disc and macula scans analyzed by using a 3-D segmentation algorithm to derive retinal nerve fiber layer (RNFL) thickness, total retinal thickness (TRT), retinal ganglion cell layer plus inner plexiform layer (GCL+IPL) thickness, and ONH volume. The SD-OCT parameter values were correlated with high- and low-contrast acuity, perimetric mean deviation, Frisén grading, and IIH features. Results. At study entry, the average RNFL thickness, TRT, and ONH volume showed significant strong correlations (r ? 0.90) with each other. The same OCT parameters showed a strong (r > 0.76) correlation with Frisén grade and a mild (r > 0.24), but significant, correlation with lumbar puncture opening pressure. For all eyes at baseline, neither visual acuity (high or low contrast) nor mean deviation correlated with any OCT measure of swelling or GCL+IPL thickness. Conclusions. In newly diagnosed IIH, OCT demonstrated alterations of the peripapillary retina and ONH correlate with Frisén grading of papilledema. At presentation, OCT measures of papilledema, in patients with newly diagnosed IIH and mild vision loss, do not correlate with clinical features or visual dysfunction. (ClinicalTrials.gov number, NCT01003639.) PMID:25370513

  5. Clinical and laboratory features that discriminate dengue from other febrile illnesses: a diagnostic accuracy study in Rio de Janeiro, Brazil

    PubMed Central

    2013-01-01

    Background Dengue is an acute febrile illness caused by an arbovirus that is endemic in more than 100 countries. Early diagnosis and adequate management are critical to reduce mortality. This study aims to identify clinical and hematological features that could be useful to discriminate dengue from other febrile illnesses (OFI) up to the third day of disease. Methods We conducted a sectional diagnostic study with patients aged 12 years or older who reported fever lasting up to three days, without any evident focus of infection, attending an outpatient clinic in the city of Rio de Janeiro, Brazil, between the years 2005 and 2008. Logistic regression analysis was used to identify symptoms, physical signs, and hematological features valid for dengue diagnosis. Receiver-operating characteristic (ROC) curve analyses were used to define the best cut-off and to compare the accuracy of generated models with the World Health Organization (WHO) criteria for probable dengue. Results Based on serological tests and virus genome detection by polymerase chain reaction (PCR), 69 patients were classified as dengue and 73 as non-dengue. Among clinical features, conjunctival redness and history of rash were independent predictors of dengue infection. A model including clinical and laboratory features (conjunctival redness and leukocyte counts) achieved a sensitivity of 81% and specificity of 71% and showed greater accuracy than the WHO criteria for probable dengue. Conclusions We constructed a predictive model for early dengue diagnosis that was moderately accurate and performed better than the current WHO criteria for suspected dengue. Validation of this model in larger samples and in other sites should be attempted before it can be applied in endemic areas. PMID:23394216

  6. Epidemiology and clinical features of segmental/lobar pattern Mycoplasma pneumoniae pneumonia: A ten-year retrospective clinical study

    PubMed Central

    GAO, JIAN; YUE, BAOZHU; LI, HAITAO; CHEN, RONG; WU, CHUNLIAN; XIAO, MILI

    2015-01-01

    Mycoplasma pneumoniae plays an important role in community-acquired pneumonia. However, epidemiological and clinical studies on the segmental/lobar pattern (S/L) radiographic-pathologic subtype of pediatric Mycoplasma pneumoniae pneumonia (MPP) are rare. The current study retrospectively analyzed the epidemiological and clinical characteristics of pediatric MPP patients. A total of 1,933 children with MPP received treatment at a single hospital between 2000 and 2009, of which 684 (35.4%) were diagnosed with S/L-MPP. The annual incidence of S/L-MPP in children with MPP increased throughout the duration of this study (from 6.4 to 59.6%, P<0.001), which was particularly evident after 2003. S/L-MPP was predominantly found in pre-school-aged children (4–6 years old; 56.6%). Compared with non-S/L-MPP, S/L-MPP was more closely associated with severe manifestations, including higher rates of fever (90.2 vs. 83.3%), pleural effusion (3.9 vs. 1.3%), extrapulmonary manifestations (26.2 vs. 21.2%), abnormal white blood cell counts (65.5 vs. 55.2%), abnormal C-reactive protein levels (30.9 vs. 23.7%) and bacterial co-infection (32.0 vs. 24.9%), as well as longer durations of fever (4.13±4.28 vs. 3.02±2.22 days) and hospitalization (12.70±4.54 vs. 9.22±5.12 days). Older S/L-MPP patients showed higher rates and longer durations of fever and cough; however, they also displayed a lower rate of extrapulmonary manifestations when compared with younger patients. In conclusion, the annual incidence of S/L-MPP has increased in recent years. Pre-school-aged children (4–6 years) with MPP are more likely to display a segmental/lobar pattern, which is associated with more severe clinical manifestations than other MPP infection patterns. PMID:26668638

  7. A Comparison of Clinical Features between Community-Associated and Healthcare-Associated Methicillin-Resistant Staphylococcus aureus Keratitis

    PubMed Central

    Ong, Sherine Jue; Chuang, Chih-Chun; Ma, David H. K.; Huang, Yhu-Chering

    2015-01-01

    Purpose. To compare the clinical features of community-associated (CA) and healthcare-associated (HA) methicillin-resistant Staphylococcus aureus (MRSA) keratitis. Methods. Patients presenting with culture-proven MRSA keratitis between January 1, 2006, and December 31, 2010, at Chang Gung Memorial Hospital, Taiwan, were included in this study. The patients' demographic and clinical information were reviewed retrospectively. Antibiotic susceptibility was verified using the disk diffusion method. Results. Information on 26 patients with MRSA keratitis was collected, including 12 cases of CA-MRSA and 14 cases of HA-MRSA. All MRSA isolates were susceptible to vancomycin; the only difference in drug susceptibility was that CA-MRSA isolates were more susceptible to trimethoprim/sulfamethoxazole than HA-MRSA (P = .034). The most common risk factor for MRSA keratitis was ocular surface disease. No significant differences were observed between the 2 groups in terms of clinical features, treatments, and visual outcomes. Conclusion. In Taiwan, CA-MRSA rivals HA-MRSA as a critical cause of MRSA keratitis. Furthermore, CA-MRSA isolates are multidrug resistant. CA-MRSA and HA-MRSA keratitis are clinically indistinguishable, although larger studies are warranted to further evaluate this association. PMID:25653870

  8. Clinical and epidemiological features of leishmaniasis in northwestern-Argentina through a retrospective analysis of recent cases.

    PubMed

    García Bustos, María F; González-Prieto, Gabriela; Ramos, Federico; Mora, María C; Hashiguchi, Yoshihisa; Parodi, Cecilia; Basombrío, Miguel A; Moreno, Sonia; Monroig, Sibila; Beckar, Josefina; Jaime, Daniela; Sajama, Jesús; Yeo, Matthew; Marco, Jorge D; Locatelli, Fabricio M; Barrio, Alejandra

    2016-02-01

    Leishmaniasis is a parasitic disease caused by hemoflagellates of the genus Leishmania and is transmitted to humans by the bite of infected phlebotomine sandflies. Depending on the Leishmania species, the disease has different clinical forms including cutaneous, mucocutaneous, and visceral manifestations. Previous studies performed in endemic zones of northwestern-Argentina, during epidemic outbreaks, have been important for detecting patients suffering from the acute phase of the disease, but have not given a complete representation of the clinical and epidemiological features in the region. Furthermore, due to the resurgence of leishmaniasis worldwide and in particular the large increase of international tourism to the region, it seems pertinent to update the current epidemiological and clinical profile of leishmaniasis in northwestern-Argentina. Here we present a retrospective analysis of 95 Leishmania positive cases, presenting between 2000 and 2014. Patients were derived from hospitals and diagnosed in our lab at the University of Salta, located in a non-endemic area in Salta, Argentina. We detected numerous extensive mucocutaneous cases (34/95, 35.8%) distinct from mucosal affected patients, some instances originating in locations with no previously reported human cases. Additionally patients suffering from concomitant diseases, besides leishmaniasis, were assessed. These included Chagas disease, syphilis, deep mycoses, tuberculosis, toxoplasmosis and intestinal parasitosis. This study updates the clinical and epidemiological features of leishmaniasis in northwestern-Argentina, and discusses the implications and management strategy for patients who acquire the disease in this region. PMID:26611809

  9. Clinical and genetic features of dyskeratosis congenita, cryptic dyskeratosis congenita, and Hoyeraal-Hreidarsson syndrome in Japan.

    PubMed

    Yamaguchi, Hiroki; Sakaguchi, Hirotoshi; Yoshida, Kenichi; Yabe, Miharu; Yabe, Hiromasa; Okuno, Yusuke; Muramatsu, Hideki; Takahashi, Yoshiyuki; Yui, Shunsuke; Shiraishi, Yuichi; Chiba, Kenichi; Tanaka, Hiroko; Miyano, Satoru; Inokuchi, Koiti; Ito, Etsuro; Ogawa, Seishi; Kojima, Seiji

    2015-11-01

    Dyskeratosis congenita (DKC) is an inherited bone marrow failure (BMF) syndrome typified by reticulated skin pigmentation, nail dystrophy, and mucosal leukoplakia. Hoyeraal-Hreidarsson syndrome (HHS) is considered to be a severe form of DKC. Unconventional forms of DKC, which develop slowly in adulthood but without the physical anomalies characteristic of DKC (cryptic DKC), have been reported. Clinical and genetic features of DKC have been investigated in Caucasian, Black, and Hispanic populations, but not in Asian populations. The present study aimed to determine the clinical and genetic features of DKC, HHS, and cryptic DKC among Japanese patients. We analyzed 16 patients diagnosed with DKC, three patients with HHS, and 15 patients with cryptic DKC. We found that platelet count was significantly more depressed than neutrophil count or hemoglobin value in DKC patients, and identified DKC patients with large deletions in the telomerase reverse transcriptase and cryptic DKC patients with RTEL1 mutations on both alleles. This led to some patients previously considered to have unclassifiable BMF being diagnosed with cDKC through identification of new gene mutations. It thus seems important from a clinical viewpoint to re-examine the clinical characteristics, frequency of genetic mutations, and treatment efficacy in DKC, HHS, and cDKC. PMID:26329388

  10. 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).

  11. New Molecular Features of Colorectal Cancer Identified - Office of Cancer Clinical Proteomics Research

    Cancer.gov

    Investigators from the National Cancer Institute's Clinical Proteomic Tumor Analysis Consortium (CPTAC) who comprehensively analyzed 95 human colorectal tumor samples, have determined how gene alterations identified in previous analyses of the same samples

  12. Digit loss due to Demodex spp. infestation in a dog: clinical and pathological features

    PubMed Central

    Grandi, F.; Pasternak, A.; Beserra, H.E.O.

    2013-01-01

    Here we describe a rare clinical manifestation of canine pododemodicosis. A dog was presented with pedal erythema, scaling, crusting, severe edema and digit loss. The following diseases were taken into account for the differential diagnosis: pododemodicosis, lethal acrodermatitis, zinc responsive dermatosis and pemphigus foliaceus. Results from skin biopsies revealed the presence of Demodex spp. of mites in the follicular infundibula and a severe inflammatory process (pododemodicosis). Upon the acaricidal treatment, the patient exhibited favorable signs of clinical improvement.

  13. Clinical features and outcome of patients with amatoxin-containing mushroom poisoning.

    PubMed

    Trabulus, Sinan; Altiparmak, Mehmet R

    2011-04-01

    OBJECTIVE.?We aimed to determine clinical and laboratory findings that were different between those patients who died and those who survived and to look for factors associated with the mortality in amatoxin-containing mushroom poisoning. METHODS.?The mushroom poisoning patients who were admitted to our clinic between 1996 and 2009 were retrospectively evaluated. The diagnosis was based on a history of mushroom ingestion, clinical picture and the presence of serum alpha-amanitin. Patients were divided into two groups as the survival group and the fatality group. Clinical and laboratory findings were compared between the two groups. Relation between variables and clinical outcome was analyzed. RESULTS.?A total of 144 amatoxin poisoning patients were included in this study. Patients who died were more likely to have demonstrated low mean arterial pressure, encephalopathy, mucosal hemorrhage, oliguria-anuria, hypoglycemia, and thrombocytopenia during the hospitalization. Low sodium values and high urea, AST, ALT, total bilirubin, LDH, prothrombin time, international normalized ratio, and activated partial thromboplastin time values were associated with increased likelihood of mortality. Nineteen patients developed acute renal failure. Fourteen patients developed acute hepatic failure. All the 14 patients who died developed acute hepatic failure. The mortality rate was 9.7%. CONCLUSIONS.?The factors associated with mortality determined in this retrospective study may be helpful for clinical outcome assessment and monitoring of patients with amatoxin-containing mushroom poisoning. PMID:21563906

  14. Multiple measures of corticospinal excitability are associated with clinical features of multiple sclerosis.

    PubMed

    Neva, J L; Lakhani, B; Brown, K E; Wadden, K P; Mang, C S; Ledwell, N H M; Borich, M R; Vavasour, I M; Laule, C; Traboulsee, A L; MacKay, A L; Boyd, L A

    2016-01-15

    In individuals with multiple sclerosis (MS), transcranial magnetic stimulation (TMS) may be employed to assess the integrity of corticospinal system and provides a potential surrogate biomarker of disability. The purpose of this study was to provide a comprehensive examination of the relationship between multiple measures corticospinal excitability and clinical disability in MS (expanded disability status scale (EDSS)). Bilateral corticospinal excitability was assessed using motor evoked potential (MEP) input-output (IO) curves, cortical silent period (CSP), short-interval intracortical inhibition (SICI), intracortical facilitation (ICF) and transcallosal inhibition (TCI) in 26 individuals with MS and 11 healthy controls. Measures of corticospinal excitability were compared between individuals with MS and controls. We evaluated the relationship(s) between age and clinical demographics such as age at MS onset (AO), disease duration (DD) and clinical disability (EDSS) with measures of corticospinal excitability. Corticospinal excitability thresholds were higher, MEP latency and CSP onset delayed and MEP durations prolonged in individuals with MS compared to controls. Age, DD and EDSS correlated with corticospinal excitability thresholds. Also, TCI duration and the linear slope of the MEP amplitude IO curve correlated with EDSS. Hierarchical regression modeling demonstrated that combining multiple TMS-based measures of corticospinal excitability accounted for unique variance in clinical disability (EDSS) beyond that of clinical demographics (AO, DD). Our results indicate that multiple TMS-based measures of corticospinal and interhemispheric excitability provide insights into the potential neural mechanisms associated with clinical disability in MS. These findings may aid in the clinical evaluation, disease monitoring and prediction of disability in MS. PMID:26467603

  15. Clinical Features and Pattern of Presentation of Breast Diseases in Surgical Outpatient Clinic of a Suburban Tertiary Hospital in South-West Nigeria

    PubMed Central

    Ayoade, Babatunde A; Tade, Adedayo O; Salami, Babatunde A

    2012-01-01

    Objective: To characterize the clinical features and pattern of presentation of breast diseases as observed in our practice. Materials and Methods: A prospective study of 121 consecutive patients with breast complaints presenting in our Surgical Outpatient Clinics. The relevant data were collected by two surgeons using the prescribed forms and was analyzed using Epi Info 2003, Mann-Whitney (test of two groups) Chi-squared and Fishers exact test was used to compare parameters of benign and malignant groups. P value <0.05 was considered as significant. Results: One hundred and nineteen patients were females, two were males. The age range was 14-70 years. Forty two (34.7%) patients were in the 21-30 year age group. The commonest symptoms were breast lump in 111 (91.7%) patients, and breast pain in 28 (23.1%) patients. Breast pain was a significant presenting complaint in patients with breast malignancy (P=.026). On clinical examination 103 (85.1%) patients had palpable lumps, and seven patients were normal. Forty four patients (36.3%) had malignant disease, seventy patients (57.8%) had benign breast diseases and seven were normal. Fifty nine of the 70 benign diseases were fibroadenoma. One hundred and three patients (85%) had appropriate therapy, while 18 patients (14.8%), including eight with malignant disease absconded. Conclusion: In the study, a breast lump was the commonest clinical feature of breast disease. Over 60% of these were benign. Breast pain was a statistically significant presentation in patients with malignant breast disease. One in seven of the patients absconded. PMID:24027385

  16. The Clinical Features of Binge Eating Disorder and Bulimia Nervosa: What Are the Differences?

    ERIC Educational Resources Information Center

    Sullivan, Keri A.

    2001-01-01

    Compares the clinical characteristics of binge eating disorder (BED) and the related syndrome bulimia nervosa (BN). Findings suggest individuals with BED are distinguishable from those with BN on a number of traits, including higher rates of obesity and lower levels of eating concern and dietary restraint. (Contains 29 references and 2 tables.)…

  17. Tracking Clinical Status for Heart Failure Patients using Ballistocardiography and Electrocardiography Signal Features

    PubMed Central

    Etemadi, Mozziyar; Hersek, Sinan; Tseng, Jocelyn M.; Rabbani, Naveed; Heller, J. Alex; Roy, Shuvo; Klein, Liviu; Inan, Omer T.

    2015-01-01

    Heart failure (HF) is an escalating public health problem, with few effective methods for home monitoring. In HF management, the important clinical factors to monitor include symptoms, fluid status, cardiac output, and blood pressure – based on these factors, inotrope and diuretic dosages are adjusted day-by-day to control the disorder and improve the patient’s status towards a successful discharge. Previously, the ballistocardiogram (BCG) measured on a weighing scale has been shown to be capable of detecting changes in cardiac output and contractility for healthy subjects. In this study, we investigated whether the BCG and electrocardiogram (ECG) signals measured on a wireless modified scale could accurately track the clinical status of HF patients during their hospital stay. Using logistic regression, we found that the root-mean-square (RMS) power of the BCG provided a good fit for clinical status, as determined based on clinical measurements and symptoms, for the 85 patient days studied from 10 patients (p < 0.01). These results provide a promising foundation for future studies aimed at using the BCG / ECG scale at home to track HF patient status remotely. PMID:25571162

  18. Tracking clinical status for heart failure patients using ballistocardiography and electrocardiography signal features.

    PubMed

    Etemadi, Mozziyar; Hersek, Sinan; Tseng, Jocelyn M; Rabbani, Naveed; Heller, J Alex; Roy, Shuvo; Klein, Liviu; Inan, Omer T

    2014-01-01

    Heart failure (HF) is an escalating public health problem, with few effective methods for home monitoring. In HF management, the important clinical factors to monitor include symptoms, fluid status, cardiac output, and blood pressure--based on these factors, inotrope and diuretic dosages are adjusted day-by-day to control the disorder and improve the patient's status towards a successful discharge. Previously, the ballistocardiogram (BCG) measured on a weighing scale has been shown to be capable of detecting changes in cardiac output and contractility for healthy subjects. In this study, we investigated whether the BCG and electrocardiogram (ECG) signals measured on a wireless modified scale could accurately track the clinical status of HF patients during their hospital stay. Using logistic regression, we found that the root-mean-square (RMS) power of the BCG provided a good fit for clinical status, as determined based on clinical measurements and symptoms, for the 85 patient days studied from 10 patients (p < 0.01). These results provide a promising foundation for future studies aimed at using the BCG/ECG scale at home to track HF patient status remotely. PMID:25571162

  19. High-risk angina patient. Identification by clinical features, hospital course, electrocardiography and technetium-99m stannous pyrophosphate scintigraphy

    SciTech Connect

    Olson, H.G.; Lyons, K.P.; Aronow, W.S.; Stinson, P.J.; Kuperus, J.; Waters, H.J.

    1981-10-01

    We evaluated 193 consecutive unstable angina patients by clinical features, hospital course and electrocardiography. All patients were managed medically. Of the 193 patients, 150 (78%) had a technetium-99m pyrophosphate (Tc-PYP) myocardial scintigram after hospitalization. Of these, 49 (33%) had positive scintigrams. At a follow-up of 24.9 +/- 10.8 months after hospitalization, 16 of 49 patients (33%) with positive scintigrams died from cardiac causes, compared with six of 101 patients (6%) with negative scintigrams (p less than 0.001). Of 49 patients with positive scintigrams, 11 (22%) had had nonfatal myocardial infarction at follow-up, compared with seven of 101 patients (7%) with negative scintigrams (p less than 0.01). Age, duration of clinical coronary artery disease, continuing angina during hospitalization, ischemic ECG, cardiomegaly and a history of heart failure also correlated with cardiac death at follow-up. Ischemic ECG and a history of angina with a crescendo pattern also correlated with nonfatal infarction at follow-up. Patients with continuing angina, an ischemic ECG and a positive scintigram constituted a high-risk unstable angina subgroup with a survival rate of 58% at 6 months, 47% at 12 months and 42% at 24 and 36 months. We conclude that the assessment of clinical features, hospital course, ECG and Tc-PYP scintigraphy may be useful in identifying high-risk unstable angina patients.

  20. High-risk angina patient: identification by clinical features, hospital course, electrocardiography, and technetium-99m stannous pyrophosphate scintigraphy

    SciTech Connect

    Olson, H.G.; Lyons, K.P.; Aronow, W.S.; Stinson, P.J.; Kuperus, J.; Waters, H.J.

    1981-10-01

    We evaluated 193 consecutive unstable angina patients by clinical features, hospital course and electrocardiography. All patients were managed medically. Of the 193 patients, 150 (78%) had a technetium-99m pyrophosphate (Tc-PYP) myocardial scintigram after hospitalization. Of these, 49 (33%) had positive scintigrams. At a follow-up of 24.9 +- 10.8 months after hospitalization, 16 of 49 patients (33%) with positive scintigrams died from cardiac causes, compared with six of 101 patients (6%) with negative scintigrams (p < 0.001). Of 49 patients with positive scintigrams, 11 (22%) had had nonfatal myocardial infarction at follow-up, compared with seven of 101 patients (7%) with negative scintigrams (p < 0.01). Age, duration of clinical coronary artery disease, continuing angina during hospitalization, ischemic ECG, cardiomegaly and a history of heart failure also correlated with cardiac death at follow-up. Ischemic ECG and a history of angina with a crescendo pattern also correlated with nonfatal infarction at follow-up. Patients with continuing angina, an ischemic ECG and a positive scintigram constituted a high-risk unstable angina subgroup, with a survival rate of 58% at 6 months, 47% at 12 months and 42% at 24 and 36 months. We conclude that the assessment of clinical features, hospital course, ECG and Tc-PYP scintigraphy may be useful in identifying high-risk unstable angina patients.

  1. Levels of Heavy Metals in Adolescents Living in the Industrialised Area of Milazzo-Valle del Mela (Northern Sicily)

    PubMed Central

    Interdonato, Monica; Mecchio, Anna; Cuspilici, Antonino; Minutoli, Letteria; Squadrito, Francesco

    2014-01-01

    In the Milazzo-Valle del Mela area, the presence of industrial plants and the oil refinery make local residents concerned for their health. For this reason, we evaluated the levels of heavy metals in 226 children aged 12–14 years, living in the 7 municipalities of the area. A control age-matched population (n = 29) living 45?km far from the industrial site was also enrolled. Arsenic, cadmium, chromium, mercury, nickel, and vanadium were analysed in 24?h urine samples, while lead concentration was evaluated in blood samples. A questionnaire regarding life style and risk perception was also administered. Adolescents from Milazzo-Valle del Mela had cadmium levels significantly higher compared to either controls??(P < 0.0001) or the reference values of the European Germany Environmental Survey (GerES-IV) and the American National Health and Nutrition Examination Survey (NHANES). Furthermore, children had higher perception of living in a high-risk environment. The present data, for the first time, clearly indicate that adolescents living in Milazzo-Valle del Mela have increased body concentration of cadmium, which may be harmful to human health. These results deserve particular attention by the local and regional government to initiate prevention programmes in this susceptible population. PMID:25328531

  2. Can clinical features be used to differentiate type 1 from type 2 diabetes? A systematic review of the literature

    PubMed Central

    Shields, Beverley M; Peters, Jaime L; Cooper, Chris; Lowe, Jenny; Knight, Bridget A; Powell, Roy J; Jones, Angus; Hyde, Christopher J; Hattersley, Andrew T

    2015-01-01

    Objective Clinicians predominantly use clinical features to differentiate type 1 from type 2 diabetes yet there are no evidence-based clinical criteria to aid classification of patients. Misclassification of diabetes is widespread (7–15% of cases), resulting in patients receiving inappropriate treatment. We sought to identify which clinical criteria could be used to discriminate type 1 and type 2 diabetes. Design Systematic review of all diagnostic accuracy studies published since 1979 using clinical criteria to predict insulin deficiency (measured by C-peptide). Data sources 14 databases including: MEDLINE, MEDLINE in Process and EMBASE. The search strategy took the form of: (terms for diabetes) AND (terms for C-Peptide). Eligibility criteria Diagnostic accuracy studies of any routinely available clinical predictors against a reference standard of insulin deficiency defined by cut-offs of C-peptide concentrations. No restrictions on race, age, language or country of origin. Results 10?917 abstracts were screened, and 231 full texts reviewed. 11 studies met inclusion criteria, but varied by age, race, year and proportion of participants who were C-peptide negative. Age at diagnosis was the most discriminatory feature in 7/9 studies where it was assessed, with optimal cut-offs (>70% mean sensitivity and specificity) across studies being <30?years or <40?years. Use of/time to insulin treatment and body mass index (BMI) were also discriminatory. When combining features, BMI added little over age at diagnosis and/or time to insulin (<1% improvement in classification). Conclusions Despite finding only 11 studies, and considerable heterogeneity between studies, age at diagnosis and time to insulin were consistently the most discriminatory criteria. BMI, despite being widely used in clinical practice, adds little to these two criteria. The criteria identified are similar to the Royal College of General Practitioners National Health Service (RCGP/NHS) Diabetes classification guidelines, which use age at diagnosis <35?years and time to insulin <6?m. Until further studies are carried out, these guidelines represent a suitable classification scheme. Systematic review registration PROSPERO reference CRD42012001736. PMID:26525723

  3. Characteristic clinical features of Aspergillus appendicitis: Case report and literature review

    PubMed Central

    Gjeorgjievski, Mihajlo; Amin, Mitual B; Cappell, Mitchell S

    2015-01-01

    This work aims to facilitate diagnosing Aspergillus appendicitis, which can be missed clinically due to its rarity, by proposing a clinical pentad for Aspergillus appendicitis based on literature review and one new case. The currently reported case of pathologically-proven Aspergillus appendicitis was identified by computerized search of pathology database at William Beaumont Hospital, 1999-2014. Prior cases were identified by computerized literature search. Among 10980 pathology reports of pathologically-proven appendicitis, one case of Aspergillus appendicitis was identified (rate = 0.01%). A young boy with profound neutropenia, recent chemotherapy, and acute myelogenous leukemia presented with right lower quadrant pain, pyrexia, and generalized malaise. Abdominal computed tomography scan showed a thickened appendiceal wall and periappendiceal inflammation, suggesting appendicitis. Emergent laparotomy showed an inflamed, thickened appendix, which was resected. The patient did poorly postoperatively with low-grade-fevers while receiving antibacterial therapy, but rapidly improved after initiating amphotericin therapy. Microscopic examination of a silver stain of the appendectomy specimen revealed fungi with characteristic Aspergillus morphology, findings confirmed by immunohistochemistry. Primary Aspergillus appendicitis is exceptionally rare, with only 3 previously reported cases. All three cases presented with (1)-neutropenia, (2)-recent chemotherapy, (3)-acute leukemia, and (4)-suspected appendicitis; (5)-the two prior cases initially treated with antibacterial therapy, fared poorly before instituting anti-Aspergillus therapy. The current patient satisfied all these five criteria. Based on these four cases, a clinical pentad is proposed for Aspergillus appendicitis: clinically-suspected appendicitis, neutropenia, recent chemotherapy, acute leukemia, and poor clinical response if treated solely by antibacterial/anti-candidial therapy. Patients presenting with this proposed pentad may benefit from testing for Aspergillus infection by silver-stains/immunohistochemistry and considering empirical anti-Aspergillus therapy pending a tissue diagnosis. PMID:26640349

  4. Recurrent Compartment Syndrome in a Patient with Clinical Features of a Connective Tissue Disorder

    PubMed Central

    Barajas, Brenda D; Sun, Angela; Rimoin, David L; Reinstein, Eyal

    2013-01-01

    Arterial complications are common in vascular type Ehlers-Danlos Syndrome (EDS), accounting for 66% of first complications. Several cases in the literature have documented acute compartment syndrome (ACS) following vascular rupture in vascular type EDS. Other disorders of connective tissue have also demonstrated vascular fragility, leading to arterial aneurysm and rupture, but there have been no documented cases of ACS. Here, we report on a female patient with a history of recurrent compartment syndrome who exhibits some clinical findings seen in hypermobile and vascular EDS; however she does not meet clinical and molecular diagnostic criteria for either of them. We further review the literature on ACS in heritable connective tissue disorders and suggest that compartment syndrome may rarely complicate other heritable disorders of connective tissue. PMID:23633393

  5. Further observations on clinical, histopathological, and immunological features of borderline disseminated cutaneous leishmaniasis caused by Leishmania (Leishmania) amazonensis.

    PubMed

    Silveira, Fernando T; Lainson, Ralph; Corbett, Carlos E P

    2005-08-01

    Leishmania (Leishmania) amazonensis has for some time been considered as the causative agent of two distinct forms of American cutaneous leishmaniasis (ACL): localized cutaneous leishmaniasis (LCL), and anergic diffuse cutaneous leishmaniasis (ADCL). Recently, a new intermediate form of disease, borderline disseminated cutaneous leishmaniasis (BDCL), was introduced into the clinical spectrum of ACL caused by this parasite, and in this paper we record the clinical, histopathological, and immunological features of eight more BDCL patients from Brazilian Amazonia, who acquired the disease in the Pará state, North Brazil. Seven of them had infections of one to two years' evolution and presented with primary skin lesions and the occurrence of metastases at periods varying from six to 12 months following appearance of the first lesion. Primary skin lesions ranged from 1-3 in number, and all had the aspect of an erythematous, infiltrated plaque, variously located on the head, arms or legs. There was lymphatic dissemination of infection, with lymph node enlargement in seven of the cases, and the delayed hypersensitivity skin-test (DTH) was negative in all eight patients prior to their treatment. After that, there was a conversion of DTH to positive in five cases re-examined. The major histopathological feature was a dermal mononuclear infiltration, with a predominance of heavily parasitized and vacuolated macrophages, together with lymphocytes and plasma cells. In one case, with similar histopathology, the patient had acquired his infection seven years previously and he presented with the largest number of disseminated cutaneous lesions. BDCL shows clinical and histopathological features which are different from those of both LCL and ADCL, and there is a good prognosis of cure which is generally not so in the case of frank ADCL. PMID:16184231

  6. Latent Autoimmune Diabetes in Adults in the United Arab Emirates: Clinical Features and Factors Related to Insulin-Requirement

    PubMed Central

    Maddaloni, Ernesto; Lessan, Nader; Al Tikriti, Alia; Buzzetti, Raffaella; Pozzilli, Paolo; Barakat, Maha T.

    2015-01-01

    Aims To describe and to characterize clinical features of latent autoimmune diabetes in adults (LADA) compared to type 1 and type 2 diabetes in the UAE. Methods In this cross-sectional study a dataset including 18,101 subjects with adult-onset (>30 years) diabetes was accessed. 17,072 subjects fulfilled the inclusion/exclusion criteria. Data about anthropometrics, demographics, autoantibodies to Glutamic Acid Decarboxylase (GADA) and to Islet Antigen 2 (anti-IA2), HbA1c, cholesterol and blood pressure were extracted. LADA was diagnosed according to GADA and/or anti-IA2 positivity and time to insulin therapy. Results 437 (2.6%) patients were identified as LADA and 34 (0.2%) as classical type 1 diabetes in adults. Mean age at diagnosis, BMI, waist circumference, systolic blood pressure and HbA1c significantly differed between, LADA, type 2 and type 1 diabetes, LADA showing halfway features between type 2 and type 1 diabetes. A decreasing trend for age at diagnosis and waist circumference was found among LADA subjects when subdivided by positivity for anti-IA2, GADA or for both antibodies (p=0.013 and p=0.011 for trend, respectively). There was a gradual downward trend in autoantibody titre in LADA subjects requiring insulin within the first year from diagnosis to subjects not requiring insulin after 10 years of follow-up (p<0.001). Conclusions This is the first study describing the clinical features of LADA in the UAE, which appear to be different from both type 1 and type 2 diabetes. Furthermore, we showed that the clinical phenotype of LADA is dependent on different patterns of antibody positivity, influencing the time to insulin requirement. PMID:26252955

  7. Glucose transporter 1 deficiency syndrome and hemiplegic migraines as a dominant presenting clinical feature.

    PubMed

    Mohammad, Shekeeb S; Coman, David; Calvert, Sophie

    2014-12-01

    Glucose transporter 1 deficiency syndrome (OMIM 606777) is a treatable epileptic encephalopathy caused by mutations in the SLC2A1 gene (OMIM 138140) causing impaired glucose transport into the brain. The classical phenotype is associated with seizures, developmental delay, ataxia and spasticity; however, milder phenotypes are emerging. We describe an 8-year-old boy with glucose transporter 1 deficiency syndrome whose clinical presentation was dominated by hemiplegic migraines that resolved with institution of a modified Atkins diet. PMID:25440161

  8. Charcot-Marie-Tooth disease variants-classification, clinical, and genetic features and rational diagnostic evaluation.

    PubMed

    Bassam, Bassam A

    2014-03-01

    Inherited neuropathies are among the most prevalent inherited neurologic disorders, and with current advances in molecular biology and genetic testing, the clinical spectrum of phenotype/genotype has been expanding enormously. Genetic testing is nowadays commercially available to several subtypes although many remain because of unknown genetic defect. A stepwise rational approach, which is shown in , facilitates reaching a specific diagnosis and reduces the cost. PMID:24534835

  9. Correlations between Clinical Features and Mortality in Patients with Vibrio vulnificus Infection

    PubMed Central

    Zhao, Hong; Xu, Lichen; Dong, Huihui; Hu, Jianhua; Gao, Hainv; Yang, Meifang; Zhang, Xuan; Chen, Xiaoming; Fan, Jun; Ma, Weihang

    2015-01-01

    Vibrio vulnificus is a common gram-negative bacterium, which might cause morbidity and mortality in patients following consumption of seafood or exposure to seawater in Southeast China. We retrospectively analyzed clinical data of patients with laboratory confirmed V. vulnificus infection. Twenty one patients were divided into a survival group and a non-surviving (or death) group according to their clinical outcome. Clinical data and measurements were statistically analyzed. Four patients (19.05%) died and five patients gave positive cultures from bile fluid, and 16 other patients gave positive culture from blood or blisters. Ten patients (47.62%) had an underlying liver disease and marine-related events were found in sixteen patients (76.2%). Patients with heavy drinking habits might be at increased mortality (p = 0.028). Clinical manifestations of cellulitis (47.6%), septic shock (42.9%) and multiple organ failure (28.6%) were statistically significant when comparing survivors and non-survivors (p = 0.035, p = 0.021 and p = 0.003, respectively). The laboratory results, including hemoglobin < 9.0 g/L (p = 0.012), platelets < 2.0×109 /L, prothrombin time activity (PTA) <20%, decreased serum creatinine and increased urea nitrogen were statistically significant (p = 0.012, p = 0.003, p = 0.028 and p = 0.028, respectively). Patients may be at a higher risk of mortality under situations where they have a history of habitual heavy alcoholic drink consumption (p = 0.028, OR = 22.5, 95%CI 1.5–335.3), accompanied with cellulitis, shock, multiple organ failure, and laboratory examinations that are complicated by decreased platelets, hemoglobin and significantly prolonged prothrombin time (PT). PMID:26274504

  10. Simian varicella virus in pigtailed macaques (Macaca nemestrina): clinical, pathologic, and virologic features.

    PubMed

    Hukkanen, Renee Rosemary; Gillen, Maggie; Grant, Richard; Liggitt, H Denny; Kiem, Hans-Peter; Kelley, Stephen T

    2009-10-01

    Simian varicella virus (SVV; Cercopithecine herpesvirus 9) is a naturally occurring herpesvirus of nonhuman primates. Here we present the clinical, pathologic, and virologic findings from 2 cases of SVV in adult female pigtailed macaques (Macaca nemestrina). The initial case presented with hyperthermia and a diffuse inguinal rash which spread centripetally, progressing to vesiculoulcerative dermatitis of the trunk, face, and extremities. At 96 h after presentation, the animal was anorexic and lethargic and had oral and glossal ulcerations. Euthanasia was elected in light of the macaque's failure to respond to clinical treatment. Seven days after the first case was identified, a second macaque presented with a vesicular rash and was euthanized. Gross necropsy lesions for both cases included vesicular, ulcerative dermatitis with mucocutaneous extension and hepatic necrosis; the initial case also demonstrated necrohemorrhagic gastroenterocolitis and multifocal splenic necrosis. Histology confirmed herpetic viral infection with abundant intranuclear inclusion bodies. Immunofluorescence assays detected antibodies specific for SVV. PCR assays of vesicular fluid, tissue, and blood confirmed SVV and excluded varicella-zoster virus (Human herpesvirus 3). Serology for Macacine herpesvirus 1 (formerly Cercopithecine herpesvirus 1), poxvirus (monkeypox), and rubella was negative. Banked serum samples confirmed SVV exposure and seroconversion. Investigation into the epidemiology of the seroconversion demonstrated a SVV colony prevalence of 20%. The described cases occurred in animals with reconstituted immune systems (after total-body irradiation) and demonstrate the clinical effects of infection with an endemic infectious agent in animals with a questionable immune status. PMID:19887033

  11. The clinical features and diagnosis of Metachromatic leukodystrophy: A case series of Iranian Pediatric Patients

    PubMed Central

    JABBEHDARI, Sayena; RAHIMIAN, Elham; JAFARI, Narjes; SANII, Sara; KHAYATZADEHKAKHKI, Simin; NEJAD BIGLARI, Habibe

    2015-01-01

    Objective Metachromatic leukodystrophy disorder (MLD) is one of the rare neurometabolic diseases caused due to lack of saposin B and arylsulfatase A enzyme deficiency. Materials & Methods Eighteen patients diagnosed as metachromatic leukodystrophy in the Neurology Department of Mofid Children’s Hospital in Tehran, Iran between 2010 and 2014 were included in our study. The disorder was confirmed by clinical, EMG-NCV, arylsulfatase A enzyme checking and neuroimaging findings along with neurometabolic and genetic assessment from reference laboratory in Iran. We assessed age, gender, past medical history, developmental status, clinical manifestations, and neuroimaging findings of 18 patients with metachromatic leukodystrophy. Results From 18 patients, 80% were offspring from consanguineous marriages. A family history of metachromatic leukodystrophy disease was positive for four patients. Twelve patients had late infantile form of this disorder and six patients had juvenile form. A history of tonic type seizure was positive in 20% of the patients and tonic spasm was confirmed with clinical information. Electromyographgraphy (EMG) in 96% of patients was abnormal with demyelinating sensorimotor neuropathy pattern. MRI in all patients showed the leukodystrophic pattern as arcuate fibers sparing and subcortical rim in white matter and periventricular involvement. Our diagnosis was confirmed by EMG-NCV findings with sensorimotor neuropathy pattern and the assessment of arylsulfatase A enzyme function. Conclusion MLD is an inheritance metabolic disorder, which was confirmed by the assessment of arylsulfatase A enzyme function, peripheral blood leukocyte that assessed in a referral laboratory in Iran. PMID:26401154

  12. Desmoid tumors: clinical features and outcome of an unpredictable and challenging manifestation of familial adenomatous polyposis.

    PubMed

    Campos, Fábio Guilherme; Martinez, Carlos Augusto Real; Novaes, Marleny; Nahas, Sérgio Carlos; Cecconello, Ivan

    2015-06-01

    Background/Aims Desmoid tumors (DTs) are rare, locally invasive neoplasms that may affect 10-25% of familial adenomatous polyposis (FAP) patients. Our aim was to evaluate incidence and clinical presentation among our patients, the potential impact on FAP outcome and to discuss treatment. Materials and methods Charts from 133 FAP (1977-2013) were reviewed. Patients with DTs were separated to retrieve demographic, clinical and management data. Follow-up was focused on disease evolution causing complications or death. Results 19 (14.3%) DTs were diagnosed, either after previous trauma (16) or during FAP surgery (3). This group comprised 8 men (42.1%) and 11 women (57.9%) with an average age of 32.9 years. Intervals from surgical trauma to DTs ranged from 7 to 60 months. ECMs were detected in 12 (63.1%) patients. DTs were located in the abdominal wall (8), abdominal cavity (8), abdominal wall and cavity (2) and left arm (1). Five patients (26.3%) referred family history of DTs. Patients presented severe complications such as small bowel obstruction (4) and hydronephrosis (2), being directly responsible for death in three patients. Conclusions (1) DTs developed in 14.3% of FAP, mostly after surgical trauma; (2) 30% caused severe morbidity; (3) identification of clinical risk factors may help surgeons to develop screening and therapeutic decisions. PMID:25480728

  13. DNMT3A mutations and clinical features in Chinese patients with acute myeloid leukemia

    PubMed Central

    2013-01-01

    Mutations in DNA methyltransferase 3A (DNMT3A) gene were recently demonstrated in acute myeloid leukemia(AML). Approximately 20% patients with AML carry DNMT3A gene mutations and was associated with a poor clinical outcome. but its clinical implications in Chinese AML patients are largely unknown. We analyzed 101 adult AML patients in china and found 14 patients (13.9%) harboring this mutation. 9 patient with M5, 2 patients with M1, 2patient with M2 and 1 patient with M3. We identified 11 missense mutation,2 nonsense and 30 bp deletion encompassing DNMT3A. The most common of them was predicted to affect 882Arg(in 4 patients). Double mutations were detected in two cases.10 of 33(43.5%). DNMT3A mutations occurred more frequently in older (age?>?50y,p?clinical and biologic characteristics and seems to be a useful as a prognostic marker. PMID:23305405

  14. Human rhinovirus infections in hospitalized children: clinical, epidemiological and virological features.

    PubMed

    Tran, D N; Trinh, Q D; Pham, N T K; Pham, T M H; Ha, M T; Nguyen, T Q N; Okitsu, S; Shimizu, H; Hayakawa, S; Mizuguchi, M; Ushijima, H

    2016-01-01

    Molecular epidemiology and clinical impact of human rhinovirus (HRV) are not well documented in tropical regions. This study compared the clinical characteristics of HRV to other common viral infections and investigated the molecular epidemiology of HRV in hospitalized children with acute respiratory infections (ARIs) in Vietnam. From April 2010 to May 2011, 1082 nasopharyngeal swabs were screened for respiratory viruses by PCR. VP4/VP2 sequences of HRV were further characterized. HRV was the most commonly detected virus (30%), in which 70% were diagnosed as either pneumonia or bronchiolitis. Children with single HRV infections presented with significantly higher rate of hypoxia than those infected with respiratory syncytial virus or parainfluenza virus (PIV)-3 (12·4% vs. 3·8% and 0%, respectively, P < 0·05), higher rate of chest retraction than PIV-1 (57·3% vs. 34·5%, P = 0·028), higher rate of wheezing than influenza A (63·2% vs. 42·3%, P = 0·038). HRV-C did not differ to HRV-A clinically. The genetic diversity and changes of types over time were observed and may explain the year-round circulation of HRV. One novel HRV-A type was discovered which circulated locally for several years. In conclusion, HRV showed high genetic diversity and was associated with significant morbidity and severe ARIs in hospitalized children. PMID:26112743

  15. Cutaneous Manifestations of Non-Celiac Gluten Sensitivity: Clinical Histological and Immunopathological Features

    PubMed Central

    Bonciolini, Veronica; Bianchi, Beatrice; Del Bianco, Elena; Verdelli, Alice; Caproni, Marzia

    2015-01-01

    Background: The dermatological manifestations associated with intestinal diseases are becoming more frequent, especially now when new clinical entities, such as Non-Celiac Gluten Sensitivity (NCGS), are identified. The existence of this new entity is still debated. However, many patients with diagnosed NCGS that present intestinal manifestations have skin lesions that need appropriate characterization. Methods: We involved 17 patients affected by NCGS with non-specific cutaneous manifestations who got much better after a gluten free diet. For a histopathological and immunopathological evaluation, two skin samples from each patient and their clinical data were collected. Results: The median age of the 17 enrolled patients affected by NCGS was 36 years and 76% of them were females. On the extensor surfaces of upper and lower limbs in particular, they all presented very itchy dermatological manifestations morphologically similar to eczema, psoriasis or dermatitis herpetiformis. This similarity was also confirmed histologically, but the immunopathological analysis showed the prevalence of deposits of C3 along the dermo-epidermal junction with a microgranular/granular pattern (82%). Conclusions: The exact characterization of new clinical entities such as Cutaneous Gluten Sensitivity and NCGS is an important objective both for diagnostic and therapeutic purposes, since these are patients who actually benefit from a GFD (Gluten Free Diet) and who do not adopt it only for fashion. PMID:26389946

  16. Clinical features and histological description of tongue lesions in a large Northern Italian population

    PubMed Central

    Carbone, Mario; Arduino, Paolo-Giacomo; Carrozzo, Marco; Conrotto, Davide; Tanteri, Carlotta; Carbone, Lucio; Elia, Alessandra; Maragon, Zaira; Broccoletti, Roberto

    2015-01-01

    Background Only few studies on tongue lesions considered sizable populations, and contemporary literature does not provide a valid report regarding the epidemiology of tongue lesions within the Italian population. In this report, the histopathological and clinical appearance of 1.106 tongue lesions from northern Italians are described and discussed. Material and Methods The case records of patients referred for the diagnosis and management of tongue lesions, from October 1993 to October 2013, were reviewed. Histological data were also obtained and blindly reexamined. Results For instance, a biopsy performed on a lingual ulcer has a strong predicting association with a carcinoma, whereas a biopsy on a white lesion predicts for a leukoplakia or oral lichen planus. Moreover, a biopsy of erosion is representative of bullous diseases, whereas a biopsy on a verrucous-papillary lesion is significant for fibroma. Furthermore, carcinomas occur in the majority of cases on the lingual edge or pelvis, oral lichen planus is mainly seen on the edge, and fibromas mostly on the lingual tip. Conclusions The high frequency of tongue involvement of such different diseases emphasizes the importance of histological characterization and that some diseases occur more frequently than others, with a peculiar clinical aspect and a more common area. In fact our survey can help the clinician in advancing diagnostic hypothesis, on the basis of the elementary lesion and its site of involvement. Key words:Tongue lesions, clinical appearance, histological description. PMID:26241456

  17. Clinical features of repetitive traumatic brain injury and chronic traumatic encephalopathy.

    PubMed

    Montenigro, Philip H; Bernick, Charles; Cantu, Robert C

    2015-05-01

    Chronic traumatic encephalopathy (CTE) is a neurodegenerative disease characterized by a distinct pattern of hyperphosphorylated tau (p-tau). Thought to be caused by repetitive concussive and subconcussive injuries, CTE is considered largely preventable. The majority of neuropathologically confirmed cases have occurred in professional contact sport athletes (eg, boxing, football). A recent post-mortem case series has magnified concerns for the public's health following its identification in six high school level athletes. CTE is diagnosed with certainty only following a post-mortem autopsy. Efforts to define the etiology and clinical progression during life are ongoing. The goal of this article is to characterize the clinical concepts associated with short- and long-term effects of repetitive traumatic brain injury, with a special emphasis on new clinical diagnostic criteria for CTE. Utilizing these new diagnostic criteria, two cases of neuropathologically confirmed CTE, one in a professional football player and one in a professional boxer, are reported. Differences in cerebellar pathology in CTE confirmed cases in boxing and football are discussed. PMID:25904046

  18. Primary canaliculitis: The incidence, clinical features, outcome and long-term epiphora after snip–punctoplasty and curettage

    PubMed Central

    Kim, Usha R.; Wadwekar, Bhagwati; Prajna, Lalitha

    2015-01-01

    Purpose To study the incidence, clinical features and outcome of primary canaliculitis with special reference to long-term epiphora after Snip–punctoplasty and curettage. Methods Single center, retrospective, telephonic questionnaire study. The medical records of patients who visited Orbit and Oculoplasty clinic, Tertiary Eye Hospital, India from 01 July 2011 to 31 June 2012 were analyzed. Records of the patients with primary canaliculitis were reviewed for clinical profile and management. Post-surgical patients thus identified were telephonically contacted in December 2012. Questionnaire was used to assess the postsurgical epiphora. Symptomatic patients were given clinic appointment, reassessed and managed. Results 2245 patients visited Orbit and Oculoplasty clinic during the study period. The incidence of primary canaliculitis was 1.4% (31 patients). The median age of the patients with canaliculitis was 65 years (range, 14–80 yrs). Sixteen patients were male. All cases were unilateral and four eyes showed both upper and lower canalicular involvement. The commonest clinical presentations were pus or concretion from punctum (28), mucous discharge (23), epiphora (18) and conjunctival injection (18). Three snip punctoplasty and canalicular curettage was performed in 30 of these patients. Twenty of the 25 available culture results were positive and streptococcus species was the most common isolated organism. Records revealed that five (22%) of these patients had persistence of symptoms. Twenty-three patients could be contacted telephonically. The median follow-up of these patients was 11 months. On telephonic communication we found that two (8.7%) patients had epiphora. Munk epiphora score in these patients was three and one respectively. Conclusions Incidence of canaliculitis was 1.4%. Most common isolate was streptococcus species. Snip–punctoplasty and curettage is a safe and efficacious modality of treatment of canaliculitis. Post-operative epiphora occurred in 8.7% patients. PMID:26586978

  19. Clinical and Serological Features of Patients Referred through a Rheumatology Triage System because of Positive Antinuclear Antibodies

    PubMed Central

    Fitch-Rogalsky, Christie; Steber, Whitney; Mahler, Michael; Lupton, Terri; Martin, Liam; Barr, Susan G.; Mosher, Dianne P.; Wick, James; Fritzler, Marvin J.

    2014-01-01

    Background The referral of patients with positive anti-nuclear antibody (ANA) tests has been criticized as an inappropriate use of medical resources. The utility of a positive ANA test in a central triage (CT) system was studied by determining the autoantibody profiles and clinical diagnoses of patients referred to rheumatologists through a CT system because of a positive ANA test. Methods Patients that met three criteria were included: (1) referred to Rheumatology CT over a three year interval; (2) reason for referral was a “positive ANA”; (3) were evaluated by a certified rheumatologist. The CT clinical database was used to obtain demographic and clinical information and a serological database was used to retrieve specific ANA and/or extractable nuclear antigen (ENA) test results. Clinical information was extracted from the consulting rheumatologist's report. Results 15,357 patients were referred through the CT system; 643 (4.1%) of these because of a positive ANA and of these 263 (40.9%) were evaluated by a certified rheumatologist. In 63/263 (24%) of ANA positive patients, the specialist provided a diagnosis of an ANA associated rheumatic disease (AARD) while 69 (26.2%) had no evidence of any disease; 102 (38.8%) had other rheumatologic diagnoses and 29 (11%) had conditions that did not meet AARD classification criteria. Of ANA positive archived sera, 15.1% were anti-DFS70 positive and 91.2% of these did not have an AARD. Conclusions This is the first study to evaluate the serological and clinical features of patients referred through a CT system because of a positive ANA. The spectrum of autoantibody specificities was wide with anti-Ro52/TRIM21 being the most common autoantibody detected. Approximately 15% of referrals had only antibodies to DFS70, the vast majority of which did not have clinical evidence for an AARD. These findings provide insight into the utility of autoantibody testing in a CT system. PMID:24705829

  20. Sacrococcygeal teratoma in a female newborn with clinical features of trisomy 13: a case report from Central Africa

    PubMed Central

    Lubala, Toni Kasole; Mukuku, Olivier; Shongo, Mick Pongombo; Mutombo, Augustin Mulangu; Lubala, Nina; Luboya, Oscar Numbi; Lukusa-Tshilobo, Prosper

    2015-01-01

    Introduction The objective of this report is to describe the first patient presenting clinical features of trisomy 13 in association with a sacrococcygeal teratoma. Case presentation We present the case of a Congolese female infant born with bilateral cleft lip and palate, hypotelorism, microcephaly, and capillary hemangioma on her face. She presented with a large sacrococcygeal mass (15.0 cm ×12.0 cm ×5.0 cm) with a cystic consistency and a positive transillumination. Conclusion This observation suggests that overexpression of certain genes on chromosome 13 may lead to tumor formation from remnant cells of Hensen’s node. PMID:26715863

  1. Clinical and Histopathological Features of Patients with Systemic Sclerosis Undergoing Endomyocardial Biopsy

    PubMed Central

    Mueller, Karin A. L.; Mueller, Iris I.; Eppler, David; Zuern, Christine S.; Seizer, Peter; Kramer, Ulrich; Koetter, Ina; Roecken, Martin; Kandolf, Reinhard; Gawaz, Meinrad; Geisler, Tobias; Henes, Joerg C.; Klingel, Karin

    2015-01-01

    Background Cardiac involvement in systemic sclerosis (SSc) is associated with a variable phenotype including heart failure, arrhythmias and pulmonary hypertension. The aim of the present study was to evaluate clinical characteristics, histopathological findings and outcome of patients with SSc and a clinical phenotype suggesting cardiac involvement. Methods and Results 25 patients with SSc and clinical signs of cardiac involvement were included between June 2007 and December 2010. They underwent routine clinical work-up including laboratory testing, echocardiography, left and right heart catheterization, holter recordings and endomyocardial biopsy. Primary endpoint (EP) was defined as the combination of cardiovascular death, arrhythmic endpoints (defined as appropriate discharge of implantable cardioverter defibrillator (ICD)) or rehospitalization due to heart failure. The majority of patients presented with slightly impaired left ventricular function (mean LVEF 54.1±9.0%, determined by echocardiography). Endomyocardial biopsies detected cardiac fibrosis in all patients with a variable area percentage of 8% to 32%. Cardiac inflammation was diagnosed as follows: No inflammation in 3.8%, isolated inflammatory cells in 38.5%, a few foci of inflammation in 30.8%, several foci of inflammation in 15.4%, and pronounced inflammation in 7.7% of patients. During follow up (FU) (22.5 months), seven (28%) patients reached the primary EP. Patients with subsequent events showed a higher degree of fibrosis and inflammation in the myocardium by trend. While patients with an inflammation grade 0 or 1 showed an event rate of 18.2%, the subgroup of patients with an inflammation grade 2 presented with an event rate of 25% versus an event rate of 50% in the subgroup of patients with an inflammation grade 3 and 4, respectively (p=0.193). Furthermore, the subgroup of patients with fibrosis grade 1 showed an event rate of 11%, patients with fibrosis grade 2 and 3 presented with an event rate of 33% and 42% respectively (p = 0.160). Conclusions Patients with SSc and clinical signs of cardiac involvement presented with mildly impaired LVEF. Prognosis was poor with an event rate of 28% within 22.5 months FU and was associated with the degree of cardiac inflammation and fibrosis. PMID:25966025

  2. Gastrointestinal Diagnosis of Classical Whipple Disease: Clinical, Endoscopic, and Histopathologic Features in 191 Patients

    PubMed Central

    Günther, Ute; Moos, Verena; Offenmüller, Gabriel; Oelkers, Gerrit; Heise, Walther; Moter, Annette; Loddenkemper, Christoph; Schneider, Thomas

    2015-01-01

    Abstract Classic Whipple disease (CWD) is a systemic infection caused by Tropheryma whipplei. Different diagnostic tools have been developed over the last decades: periodic acid-Schiff (PAS) staining, T whipplei-specific polymerase chain reaction (PCR), and T whipplei-specific immunohistochemistry (IHC). Despite all these advances, CWD is still difficult to diagnose because of a variety of clinical symptoms and possibly a long time span between first unspecific symptoms and the full-blown clinical picture of the disease. Herein, we report an observational cohort study summarizing epidemiologic data, clinical manifestations, and diagnostic parameters of 191 patients with CWD collected at our institution. Gastrointestinal manifestations are the most characteristic symptoms of CWD affecting 76% of the cohort. Although the small bowel was macroscopically conspicuous in only 27% of cases, 173 (91%) patients presented with characteristic histological changes in small bowel biopsies (in 2 patients, these changes were only seen within the ileum). However, 18 patients displayed normal small bowel histology without typical PAS staining. In 9 of these patients, alternative test were positive from their duodenal specimens (ie, T whipplei-specific PCR and/or IHC). Thus, in 182 patients (95%) a diagnostic hint toward CWD was obtained from small bowel biopsies. Only 9 patients (5%) were diagnosed solely based on positive T whipplei-specific PCR and/or IHC of extraintestinal fluids (eg, cerebrospinal fluid, synovial fluid) or extraintestinal tissue (eg, lymph node, synovial tissue), respectively. Thus, despite efforts to diagnose CWD from alternative specimens, gastroscopy with duodenal biopsy and subsequent histological and molecular–biological examination is the most reliable diagnostic tool for CWD. PMID:25881849

  3. Gastrointestinal diagnosis of classical Whipple disease: clinical, endoscopic, and histopathologic features in 191 patients.

    PubMed

    Günther, Ute; Moos, Verena; Offenmüller, Gabriel; Oelkers, Gerrit; Heise, Walther; Moter, Annette; Loddenkemper, Christoph; Schneider, Thomas

    2015-04-01

    Classic Whipple disease (CWD) is a systemic infection caused by Tropheryma whipplei. Different diagnostic tools have been developed over the last decades: periodic acid-Schiff (PAS) staining, T whipplei-specific polymerase chain reaction (PCR), and T whipplei-specific immunohistochemistry (IHC). Despite all these advances, CWD is still difficult to diagnose because of a variety of clinical symptoms and possibly a long time span between first unspecific symptoms and the full-blown clinical picture of the disease. Herein, we report an observational cohort study summarizing epidemiologic data, clinical manifestations, and diagnostic parameters of 191 patients with CWD collected at our institution. Gastrointestinal manifestations are the most characteristic symptoms of CWD affecting 76% of the cohort. Although the small bowel was macroscopically conspicuous in only 27% of cases, 173 (91%) patients presented with characteristic histological changes in small bowel biopsies (in 2 patients, these changes were only seen within the ileum). However, 18 patients displayed normal small bowel histology without typical PAS staining. In 9 of these patients, alternative test were positive from their duodenal specimens (ie, T whipplei-specific PCR and/or IHC). Thus, in 182 patients (95%) a diagnostic hint toward CWD was obtained from small bowel biopsies. Only 9 patients (5%) were diagnosed solely based on positive T whipplei-specific PCR and/or IHC of extraintestinal fluids (eg, cerebrospinal fluid, synovial fluid) or extraintestinal tissue (eg, lymph node, synovial tissue), respectively. Thus, despite efforts to diagnose CWD from alternative specimens, gastroscopy with duodenal biopsy and subsequent histological and molecular-biological examination is the most reliable diagnostic tool for CWD. PMID:25881849

  4. Amyotrophic Lateral Sclerosis: An update for 2013 Clinical Features, Pathophysiology, Management and Therapeutic Trials

    PubMed Central

    Gordon, Paul H.

    2013-01-01

    Amyotrophic lateral sclerosis (ALS), first described by Jean-Martin Charcot in the 1870s, is an age-related disorder that leads to degeneration of motor neurons. The disease begins focally in the central nervous system and then spreads relentlessly. The clinical diagnosis, defined by progressive signs and symptoms of upper and lower motor neuron dysfunction, is confirmed by electromyography. Additional testing excludes other conditions. The disease is heterogeneous, but most patients die of respiratory muscle weakness less than 3 years from symptom-onset. Like other age-related neurodegenerative diseases, ALS has genetic and environmental triggers. Of the five to 10% of cases that are inherited, mutations have been discovered for a high proportion. In addition to genetic factors, age, tobacco use, and athleticism may contribute to sporadic ALS, but important etiologies are unidentified for most patients. Complex pathophysiological processes, including mitochondrial dysfunction, aggregation of misfolded protein, oxidative stress, excitotoxicity, inflammation and apoptosis, involve both motor neurons and surrounding glial cells. There is clinical and pathological overlap with other neurodegenerative diseases, particularly frontotemporal dementia. The mechanisms leading to disease propagation in the brain are a current focus of research. To date, one medication, riluzole, licensed in 1996, has been proved to prolong survival in ALS. Numerous clinical trials have so far been unable to identify another neuroprotective agent. Researchers now aim to slow disease progression by targeting known pathophysiological pathways or genetic defects. Current approaches are directed at muscle proteins such as Nogo, energetic balance, cell replacement, and abnormal gene products resulting from mutations. Until better understanding of the causes and mechanisms underlying progression lead to more robust neuroprotective agents, symptomatic therapies can extend life and improve quality of life. Palliative care programs such as hospice give emotional and physical support to patients and families throughout much of the disease course. PMID:24124634

  5. Amyotrophic Lateral Sclerosis: An update for 2013 Clinical Features, Pathophysiology, Management and Therapeutic Trials.

    PubMed

    Gordon, Paul H

    2013-01-01

    Amyotrophic lateral sclerosis (ALS), first described by Jean-Martin Charcot in the 1870s, is an age-related disorder that leads to degeneration of motor neurons. The disease begins focally in the central nervous system and then spreads relentlessly. The clinical diagnosis, defined by progressive signs and symptoms of upper and lower motor neuron dysfunction, is confirmed by electromyography. Additional testing excludes other conditions. The disease is heterogeneous, but most patients die of respiratory muscle weakness less than 3 years from symptom-onset. Like other age-related neurodegenerative diseases, ALS has genetic and environmental triggers. Of the five to 10% of cases that are inherited, mutations have been discovered for a high proportion. In addition to genetic factors, age, tobacco use, and athleticism may contribute to sporadic ALS, but important etiologies are unidentified for most patients. Complex pathophysiological processes, including mitochondrial dysfunction, aggregation of misfolded protein, oxidative stress, excitotoxicity, inflammation and apoptosis, involve both motor neurons and surrounding glial cells. There is clinical and pathological overlap with other neurodegenerative diseases, particularly frontotemporal dementia. The mechanisms leading to disease propagation in the brain are a current focus of research. To date, one medication, riluzole, licensed in 1996, has been proved to prolong survival in ALS. Numerous clinical trials have so far been unable to identify another neuroprotective agent. Researchers now aim to slow disease progression by targeting known pathophysiological pathways or genetic defects. Current approaches are directed at muscle proteins such as Nogo, energetic balance, cell replacement, and abnormal gene products resulting from mutations. Until better understanding of the causes and mechanisms underlying progression lead to more robust neuroprotective agents, symptomatic therapies can extend life and improve quality of life. Palliative care programs such as hospice give emotional and physical support to patients and families throughout much of the disease course. PMID:24124634

  6. Sativex(®) (tetrahydrocannabinol + cannabidiol), an endocannabinoid system modulator: basic features and main clinical data.

    PubMed

    Vermersch, Patrick

    2011-04-01

    Sativex(®) (nabiximols, USAN name) oromucosal spray contains the two main active constituents of Cannabis sativa, tetrahydrocannabinol and cannabidiol in a 1:1 molecular ratio, and acts as an endocannabinoid system modulator. Randomized, controlled clinical trials of Sativex as add-on therapy provide conclusive evidence of its efficacy in the treatment of more than 1500 patients with multiple sclerosis (MS)-related resistant spasticity. The primary end point in clinical trials was the mean change from baseline in the 0-10 numerical rating scale (NRS) spasticity score. The first pivotal clinical trial included 189 patients treated for 6 weeks with Sativex (n = 124) or placebo (n = 65). At study end, there was a significant reduction from baseline in patient-recorded NRS spasticity scores with Sativex compared with placebo (-1.18 vs -0.63; p = 0.048). In the second pivotal trial, 337 patients with MS-related resistant spasticity received Sativex (n = 167) or placebo (n = 170) over a 15-week period. In the per-protocol analysis (79% of the patient population), mean baseline NRS spasticity score was reduced significantly in patients receiving Sativex compared with placebo: -1.3 versus -0.8 points (p = 0.035). The third pivotal clinical trial, evaluating the sustained efficacy of Sativex, had a two-phase study design: in phase A (n = 572), 47% of patients were initial responders (improvement ? 20%) after 4 weeks of single-blind Sativex treatment who then entered phase B, a randomized, double-blind, 12-week placebo comparison. At the end of phase B, the change in NRS spasticity score improved by a further 0.04 units in initial responders treated with Sativex, but decreased by 0.81 units in placebo recipients (p = 0.0002). Significant improvements in quality-of-life measures from baseline to week 16 were also observed in patients receiving Sativex. The most common treatment-related adverse events with Sativex were mild-to moderate and transient episodes of dizziness, fatigue or somnolence. Sativex does not exhibit the side effects typically associated with recreational cannabis use and there are no signs of drug tolerance or withdrawal syndrome, or any evidence of drug misuse or abuse. Sativex oromucosal spray appears to be a useful and welcomed option for the management of resistant spasticity in MS patients. Although the management of MS has been improved by the availability of disease-modifying agents that target the underlying pathophysiological processes of the disease, a clear need remains for more effective symptomatic treatments, especially as regards MS-related spasticity and pain. PMID:21449855

  7. Toxic epidermal necrolysis: Part I. Introduction, history, classification, clinical features, systemic manifestations, etiology, and immunopathogenesis.

    PubMed

    Schwartz, Robert A; McDonough, Patrick H; Lee, Brian W

    2013-08-01

    Toxic epidermal necrolysis is a life-threatening, typically drug-induced mucocutaneous disease. It is clinically characterized as a widespread sloughing of the skin and mucosa, including both external and internal surfaces. Histologically, the denuded areas show full thickness epidermal necrosis. The pathogenic mechanism involves antigenic moiety/metabolite, peptide-induced T cell activation, leading to keratinocyte apoptosis through soluble Fas ligand, perforin/granzyme B, tumor necrosis factor-alfa, and nitric oxide. Recent studies have implicated granulysin in toxic epidermal necrolysis apoptosis and have suggested that it may be the pivotal mediator of keratinocyte death. PMID:23866878

  8. Genital warts: comparing clinical findings to dermatoscopic aspects, in vivo reflectance confocal features and histopathologic exam*

    PubMed Central

    Veasey, John Verrinder; Framil, Valéria Maria de Souza; Nadal, Sidney Roberto; Marta, Alessandra Cristine; Lellis, Rute Facchini

    2014-01-01

    Genital warts can be diagnosed through physical examination and confirmed by histopathology. Noninvasive methods are useful for ruling out other diagnoses with no harm to the patient. In this study the clinical findings were compared to dermoscopy, reflectance confocal microscopy (RCM), and to histopathology findings, in order to determine possible patterns that can aid diagnosis of the lesion. It was possible to identify structural changes on reflectance confocal microscopy that are already known by dermoscopy, in addition to cellular changes previously seen only by histopathological examination. This study shows the use of reflectance confocal microscopy in cases of genital warts, providing important information that can be used in further studies. PMID:24626658

  9. Desmoid tumors: clinical features and treatment options: a case report and a review of literature

    PubMed Central

    Jenayah, Amel Achour; Bettaieb, Hajer; Saoudi, Sarra; Gharsa, Anissa; Sfar, Ezzeddine; Boudaya, Fethia; Chelli, Dalenda

    2015-01-01

    Desmoid tumors are a rare group of locally aggressive, non malignant tumors of fibroblastic origin that can lead to significant morbidity due to local invasion and may even result in a fatal outcome when located around vital organs. Their clinical presentation, biological behavior and natural history can be quite varied and is incompletely understood at the present time. The optimal therapeutic approach depends on various factors, and a multidisciplinary approach is necessary to achieve local control with acceptable morbidity. Despite progress in the understanding of these tumors and the treatment options, local recurrence remains a major problem. PMID:26516394

  10. Clinical features of three girls with mosaic genome-wide paternal uniparental isodisomy.

    PubMed

    Kalish, Jennifer M; Conlin, Laura K; Bhatti, Tricia R; Dubbs, Holly A; Harris, Mary Catherine; Izumi, Kosuke; Mostoufi-Moab, Sogol; Mulchandani, Surabhi; Saitta, Sulagna; States, Lisa J; Swarr, Daniel T; Wilkens, Alisha B; Zackai, Elaine H; Zelley, Kristin; Bartolomei, Marisa S; Nichols, Kim E; Palladino, Andrew A; Spinner, Nancy B; Deardorff, Matthew A

    2013-08-01

    Here we describe three subjects with mosaic genome-wide paternal uniparental isodisomy (GWpUPD) each of whom presented initially with overgrowth, hemihyperplasia (HH), and hyperinsulinism (HI). Due to the severity of findings and the presence of additional features, SNP array testing was performed, which demonstrated mosaic GWpUPD. Comparing these individuals to 10 other live-born subjects reported in the literature, the predominant phenotype is that of pUPD11 and notable for a very high incidence of tumor development. Our subjects developed non-metastatic tumors of the adrenal gland, kidney, and/or liver. All three subjects had pancreatic hyperplasia resulting in HI. Notably, our subjects to date display minimal features of other diseases associated with paternal UPD loci. Both children who survived the neonatal period have displayed near-normal cognitive development, likely due to a favorable tissue distribution of the mosaicism. To understand the range of UPD mosaicism levels, we studied multiple tissues using SNP array analysis and detected levels of 5-95%, roughly correlating with the extent of tissue involvement. Given the rapidity of tumor growth and the difficulty distinguishing malignant and benign tumors in these GWpUPD subjects, we have utilized increased frequency of ultrasound (US) and alpha-fetoprotein (AFP) screening in the first years of life. Because of a later age of onset of additional tumors, continued tumor surveillance into adolescence may need to be considered in these rare patients. PMID:23804593

  11. Clinical Features of Three Girls With Mosaic Genome-Wide Paternal Uniparental Isodisomy

    PubMed Central

    Kalish, Jennifer M.; Conlin, Laura K.; Bhatti, Tricia R.; Dubbs, Holly A.; Harris, Mary Catherine; Izumi, Kosuke; Mostoufi-Moab, Sogol; Mulchandani, Surabhi; Saitta, Sulagna; States, Lisa J.; Swarr, Daniel T.; Wilkens, Alisha B.; Zackai, Elaine H.; Zelley, Kristin; Bartolomei, Marisa S.; Nichols, Kim E.; Palladino, Andrew A.; Spinner, Nancy B.; Deardorff, Matthew A.

    2014-01-01

    Here we describe three subjects with mosaic genome-wide paternal uniparental isodisomy (GWpUPD) each of whom presented initially with overgrowth, hemihyperplasia (HH), and hyperinsulinism (HI). Due to the severity of findings and the presence of additional features, SNP array testing was performed, which demonstrated mosaic GWpUPD. Comparing these individuals to 10 other live-born subjects reported in the literature, the predominant phenotype is that of pUPD11 and notable for a very high incidence of tumor development. Our subjects developed non-metastatic tumors of the adrenal gland, kidney, and/or liver.AllthreesubjectshadpancreatichyperplasiaresultinginHI. Notably, our subjects to date display minimal features of other diseases associated with paternal UPD loci. Both children who survived the neonatal period have displayed near-normal cognitive development, likely due to a favorable tissue distribution of the mosaicism.Tounderstandthe rangeofUPDmosaicismlevels, we studied multiple tissues using SNP array analysis and detected levels of 5–95%, roughly correlating with the extent of tissue involvement.Giventherapidityoftumorgrowthandthedifficulty distinguishing malignant and benign tumors in these GWpUPD subjects, we have utilized increased frequency of ultrasound (US) and alpha-fetoprotein (AFP) screening in the first years of life. Because of a later age of onset of additional tumors, continued tumor surveillance into adolescence may need to be considered in these rare patients. PMID:23804593

  12. MDCT distinguishing features of focal aortic projections (FAP) in acute clinical settings.

    PubMed

    Valente, Tullio; Rossi, Giovanni; Lassandro, Francesco; Rea, Gaetano; Marino, Maurizio; Urciuolo, Salvatore; Tortora, Giovanni; Muto, Maurizio

    2015-01-01

    Focal aortic projections (FAP) are protrusion images of the contrast medium (focal contour irregularity, breaks in the intimal contour, outward lumen bulging or localized blood-filled outpouching) projecting beyond the aortic lumen in the aortic wall and are commonly seen on multidetector computed tomography (MDCT) scans of the chest and abdomen. FAP include several common and uncommon etiologies, which can be demonstrated both in the native aorta, mainly in acute aortic syndromes, and in the post-surgical aorta or after endovascular therapy. They are also found in some types of post-traumatic injuries and in impending rupture of the aneurysms. The expanding, routine use of millimetric or submillimetric collimation of current state-of-the-art MDCT scanners (16 rows and higher) all the time allows the identification and characterization of these small ulcer-like lesions or irregularities in the entire aorta, as either an incidental or expected finding, and provides detailed three-dimensional pictures of these pathologic findings. In this pictorial review, we illustrate the possible significance of FAP and the discriminating MDCT features that help to distinguish among different types of aortic protrusions and their possible evolution. Awareness of some related and distinctive radiologic features in FAP may improve our understanding of aortic diseases, provide further insight into the pathophysiology and natural history, and guide the appropriate management of these lesions. PMID:25249411

  13. Clinical Features, Genetics and Potential Therapeutic Approaches for Birt-Hogg-Dubé Syndrome

    PubMed Central

    Schmidt, Laura S.; Linehan, W. Marston

    2015-01-01

    Introduction Birt-Hogg-Dubé (BHD) syndrome is an autosomal dominant disorder that predisposes to fibrofolliculomas, pulmonary cysts, spontaneous pneumothorax and renal neoplasia. BHD is characterized by germline mutations in tumor suppressor FLCN. Inactivation of the remaining FLCN allele in kidney cells drives tumorigenesis. Novel FLCN-interacting proteins, FNIP1 and FNIP2, were identified. Studies with FLCN-deficient in vitro and in vivo models support a role for FLCN in modulating AKT-mTOR signaling. Emerging evidence suggests that FLCN may interact in a number of pathways/processes. Identification of FLCN’s major functional roles will provide the basis for developing targeted therapies for BHD patients. Areas covered This review covers BHD diagnostic criteria, clinical manifestations and genetics, as well as molecular consequences of FLCN inactivation. Recommended surveillance practices, patient management, and potential therapeutic options are discussed. Expert opinion In the decade since FLCN was identified as causative for BHD, we have gained a greater understanding of the clinical spectrum and genetics of this cancer syndrome. Recent studies have identified interactions between FLCN and a variety of signaling pathways and cellular processes, notably AKT-mTOR. Currently, surgical intervention is the only available therapy for BHD-associated renal tumors. Effective therapies will need to target primary pathways/processes deregulated in FLCN-deficient renal tumors and fibrofolliculomas. PMID:26581862

  14. The effect of diabetic control status on the clinical features of pulmonary tuberculosis.

    PubMed

    Park, S W; Shin, J W; Kim, J Y; Park, I W; Choi, B W; Choi, J C; Kim, Y S

    2012-07-01

    The aim of this study was to determine whether control status of diabetes mellitus influences clinical and radiographic manifestations and treatment responses in patients with tuberculosis (TB). The medical records of 492 patients who started anti-TB medication between January 2005 and December 2009 were retrospectively reviewed. Diabetes was diagnosed in 124 patients (25.2%). Of these, 74 (59.7%) were uncontrolled (HbA1C?7.0), 25 (20.2%) were controlled (HbA1C<7.0), and HbA1C levels were not assessed in the remaining 25 (20.2%). There were no differences in clinical symptoms between diabetics and non-diabetics, regardless of diabetes control status. There were also no differences in radiographic findings or AFB results between controlled diabetics and non-diabetics. However, uncontrolled diabetics had more cavitary lesions (p=0.008) and higher positive smear rates (p<0.001) compared with non-diabetics. After adjustment for age, cavities and positive smears before initiation of treatment, uncontrolled diabetes was a significant risk factor for a positive sputum culture at 2 months (odds ratio, 4.316; 95% CI, 1.306-14.267; p=0.017). Uncontrolled diabetics seem to have more cavities, higher positive smear rates and lack of culture conversion after two months of therapy. Therefore, TB patients with uncontrolled diabetes should be carefully managed and treated. PMID:22042559

  15. A case of HPV and acquired genital lymphangioma: over-lapping clinical features.

    PubMed

    Cestaro, Giovanni; De Rosa, Michele; Gentile, Maurizio; Massaron, Salvatore

    2015-01-01

    Lymphatic malformation or lymphangioma is a benign proliferation of the lymphatics accounting for 4% of all vascular malformations and 26% of all benign vascular tumors. There are several reports about genital lymphangiomas mimicking venereal lesions, such as genital warts. Hereby we described a case of a 24 year old man affected by multiple vesicles and warts in genital area. All hematological and biochemical parameters, Human Immunodeficiency Virus (HIV) and Treponema Pallidum tests, C1-Inhibitor and C1-Q values were within limits. An accurate fulguration and wide excision of bigger lesions were performed. Histological examination showed numerous dilated lymphatic vessels in the superficial dermis with infiltration of inflammatory cells, that is a histopathological picture compatible with genital lymphangioma. Considering our clinical suspicion of condylomatosis, HPV (Human Papilloma Virus) Polimerase Chain Reaction (PCR) Genotyping, named INNOLiPA test, was performed, that revealed a genital infection by HPV - genotype 6. We think that our case can be considered an example of HPV infection and acquired genital lymphangioma overlap clinical syndrome. The patient presented any lesions one year after the procedure at follow-up examination. PMID:25818349

  16. Clinical and electrophysiological features in a French family presenting with seipinopathy.

    PubMed

    Ollivier, Yolaine; Magot, Armelle; Latour, Philippe; Perrier, Julie; Mercier, Sandra; Maisonobe, Thierry; Péréon, Yann

    2015-02-01

    Seipinopathies are a group of inherited diseases affecting upper and lower motor neurons due to mutations in the Berardinelli-Seip congenital lipodystrophy 2 gene (BSCL2). We report a French family carrying the N88S mutation in the BSCL2 gene. A 12-yr-old girl complained of bilateral asymmetrical pes cavus with right hand motor deficit and amyotrophy, asymmetrical leg amyotrophy and pyramidal signs. Electrophysiological examination showed axonal asymmetrical motor neuropathy with distal predominance. Her father complained of right hand rest tremor with bilateral hand weakness. Physical examination revealed left leg, hand and forearm amyotrophy, akinesia and right arm rigidity, brisk reflexes in the lower limbs and bilateral Babinski sign. Nerve conduction studies showed distal asymmetrical axonal neuropathy with slight sensitive impairment with moderate decrease of nerve conduction velocity in some nerves. DNA sequencing revealed the presence of the known N88S mutation in the BSCL2 gene (dideoxy-nucleotide method on a 3730 DNA Analyzer, Life Technologies). BSCL2 gene mutations are associated with a wide spectrum of clinical and electrophysiological phenotypes and should be suspected in cases of distal hereditary motor neuropathy with pyramidal signs or early hand involvement. There may also be associated mild demyelination which may vary in severity within the same family. Clinical diagnosis was more difficult in this particular case due to the association with Parkinson symptoms. PMID:25454168

  17. Foreign Body Emboli following Cerebrovascular Interventions: Clinical, Radiographic, and Histopathologic Features.

    PubMed

    Shapiro, M; Ollenschleger, M D; Baccin, C; Becske, T; Spiegel, G R; Wang, Y; Song, X; Raz, E; Zumofen, D; Potts, M B; Nelson, P K

    2015-11-01

    Foreign material emboli following cerebral, cardiac, and peripheral catheterizations have been reported since the mid-1990s. Catheter coatings have been frequently implicated. The most recent surge of interest in this phenomenon within the neurointerventional community is associated with procedures using flow-diversion devices for the treatment of cerebral aneurysms. Following coil-supported Pipeline embolization in 4 cases and stent-supported coiling in 1, 5 patients developed multiple subcentimeter enhancing lesions, usually with surrounding edema and variable magnetic susceptibility in the vascular territories of the treated aneurysms. Conventional angiography findings were unrevealing. Laboratory work-up showed mild CSF protein elevation with no leukocytosis. Brain biopsy in 2 cases revealed granulomatous angiitis encasing foreign material, identical in stain appearance to a polyvinylpyrrolidone catheter coating. Corticosteroid administration typically produced clinical improvement. A heterogeneous radiographic and clinical course was noted, with rise and fall in the number of enhancing lesions in 2 patients and persistence in others. The etiology may be related to widespread adoption of increasingly sophisticated catheterization techniques. PMID:26294650

  18. Posterosuperior glenoid internal impingement of the shoulder in the overhead athlete: pathogenesis, clinical features and MR imaging findings.

    PubMed

    Fessa, Chris Kon; Peduto, Anthony; Linklater, James; Tirman, Phillip

    2015-04-01

    Posterosuperior glenoid internal impingement (PGII) is an impingement syndrome of the shoulder that is most commonly seen in the throwing or overhead athlete. The supraspinatus can be normally compressed or impinged between the greater tuberosity and the posterosuperior labrum in the abduction and external rotation position. However, repetitive throwing and biomechanical abnormalities may lead to the intensification of this contact and to the clinical and pathological picture of PGII. The injured athlete usually complains of poor throwing performance and pain located in the posterosuperior aspect of the shoulder. Two main theories regarding the aetiology of PGII have been postulated with differing initial mechanisms. The MRI features of PGII have been described and include supraspinatus and anterior infraspinatus partial undersurface tears, bony changes at the humeral head and labral pathology, including a variation of the type II superior labrum from anterior to posterior lesion. This pictorial essay aims to present cases illustrating the pathophysiology, clinical features and recently described MRI findings, and discuss some of the MR protocol considerations. PMID:25586665

  19. Clinical features, neurogenetics and neuropathology of the polyglutamine spinocerebellar ataxias type 1, 2, 3, 6 and 7.

    PubMed

    Rüb, Udo; Schöls, Ludger; Paulson, Henry; Auburger, Georg; Kermer, Pawel; Jen, Joanna C; Seidel, Kay; Korf, Horst-Werner; Deller, Thomas

    2013-05-01

    The spinocerebellar ataxias type 1 (SCA1), 2 (SCA2), 3 (SCA3), 6 (SCA6) and 7 (SCA7) are genetically defined autosomal dominantly inherited progressive cerebellar ataxias (ADCAs). They belong to the group of CAG-repeat or polyglutamine diseases and share pathologically expanded and meiotically unstable glutamine-encoding CAG-repeats at distinct gene loci encoding elongated polyglutamine stretches in the disease proteins. In recent years, progress has been made in the understanding of the pathogenesis of these currently incurable diseases: Identification of underlying genetic mechanisms made it possible to classify the different ADCAs and to define their clinical and pathological features. Furthermore, advances in molecular biology yielded new insights into the physiological and pathophysiological role of the gene products of SCA1, SCA2, SCA3, SCA6 and SCA7 (i.e. ataxin-1, ataxin-2, ataxin-3, ?-1A subunit of the P/Q type voltage-dependent calcium channel, ataxin-7). In the present review we summarize our current knowledge about the polyglutamine ataxias SCA1, SCA2, SCA3, SCA6 and SCA7 and compare their clinical and electrophysiological features, genetic and molecular biological background, as well as their brain pathologies. Furthermore, we provide an overview of the structure, interactions and functions of the different disease proteins. On the basis of these comprehensive data, similarities, differences and possible disease mechanisms are discussed. PMID:23438480

  20. ENLIST 1: An International Multi-centre Cross-sectional Study of the Clinical Features of Erythema Nodosum Leprosum

    PubMed Central

    Walker, Stephen L.; Balagon, Marivic; Darlong, Joydeepa; Doni, Shimelis N.; Hagge, Deanna A.; Halwai, Vikas; John, Annamma; Lambert, Saba M.; Maghanoy, Armi; Nery, Jose A. C.; Neupane, Kapil D.; Nicholls, Peter G.; Pai, Vivek V.; Parajuli, Pawan; Sales, Anna M.; Sarno, Euzenir; Shah, Mahesh; Tsegaye, Digafe; Lockwood, Diana N. J.

    2015-01-01

    Erythema nodosum leprosum (ENL) is a severe multisystem immune mediated complication of borderline lepromatous leprosy and lepromatous leprosy. ENL is associated with skin lesions, neuritis, arthritis, dactylitis, eye inflammation, osteitis, orchitis, lymphadenitis and nephritis. The treatment of ENL requires immunosuppression, which is often required for prolonged periods of time and may lead to serious adverse effects. ENL and its treatment is associated with increased mortality and economic hardship. Improved, evidence-based treatments for ENL are needed; however, defining the severity of ENL and outcome measures for treatment studies is difficult because of the multiple organ systems involved. A cross-sectional study was performed, by the members of the Erythema Nodosum Leprosum International STudy (ENLIST) Group, of patients with ENL attending seven leprosy referral centres in Brazil, Ethiopia, India, Nepal, the Philippines and the United Kingdom. We systematically documented the clinical features and type of ENL, its severity and the drugs used to treat it. Patients with chronic ENL were more likely to be assessed as having severe ENL. Pain, the most frequent symptom, assessed using a semi-quantitative scale was significantly worse in individuals with “severe” ENL. Our findings will determine the items to be included in a severity scale of ENL which we are developing and validating. The study also provides data on the clinical features of ENL, which can be incorporated into a definition of ENL and used for outcome measures in treatment studies. PMID:26351858

  1. Clinical utility of a next generation sequencing panel assay for Marfan and Marfan-like syndromes featuring aortopathy.

    PubMed

    Wooderchak-Donahue, Whitney; VanSant-Webb, Chad; Tvrdik, Tatiana; Plant, Parker; Lewis, Tracey; Stocks, Jennifer; Raney, Joshua A; Meyers, Lindsay; Berg, Alizabeth; Rope, Alan F; Yetman, Anji T; Bleyl, Steven B; Mesley, Rebecca; Bull, David A; Collins, R Thomas; Ojeda, Mayra Martinez; Roberts, Amy; Lacro, Ronald; Woerner, Audrey; Stoler, Joan; Bayrak-Toydemir, Pinar

    2015-08-01

    Aortopathy can be defined as aortic dilation, aneurysm, dissection, and tortuosity. Familial aortopathy may occur secondary to fibrillin-1 (FBN1) mutations in the setting of Marfan syndrome, or may occur as a result of other genetic defects with different, but occasionally overlapping, phenotypes. Because of the phenotypic overlap and genetic heterogeneity of disorders featuring aortopathy, we developed a next generation sequencing (NGS) assay and comparative genomic hybridization (CGH) array to detect mutations in 10 genes that cause thoracic aortic aneurysms (TAAs). Here, we report on the clinical and molecular findings in 175 individuals submitted for aortopathy panel testing at ARUP laboratories. Ten genes associated with heritable aortopathies were targeted using hybridization capture prior to sequencing. NGS results were analyzed, and variants were confirmed using Sanger sequencing. Array CGH was used to detect copy-number variation. Of 175 individuals, 18 had a pathogenic mutation and 32 had a variant of uncertain significance (VUS). Most pathogenic mutations (72%) were identified in FBN1. A novel large SMAD3 duplication and FBN1 deletion were identified. Over half who had TAAs or other aortic involvement tested negative for a mutation, suggesting that additional aortopathy genes exist. We anticipate that the clinical sensitivity of at least 10.3% will rise with VUS reclassification and as additional genes are identified and included in the panel. The aortopathy NGS panel aids in the timely molecular diagnosis of individuals with disorders featuring aortopathy and guides proper treatment. PMID:25944730

  2. Clinical features of muscle dysmorphia among males with body dysmorphic disorder

    PubMed Central

    Pope, Courtney G.; Pope, Harrison G.; Menard, William; Fay, Christina; Olivardia, Roberto; Phillips, Katharine A.

    2006-01-01

    Muscle dysmorphia – a pathological preoccupation with muscularity – appears to be a form of body dysmorphic disorder (BDD) with a focus on muscularity. However, little is known about muscle dysmorphia in men with BDD, and no study has compared men with BDD who do and do not report muscle dysmorphia. To explore this issue, we reviewed the histories of 63 men with BDD; we compared those rated as having a history of muscle dysmorphia with those who had BDD but not muscle dysmorphia in several domains. The 14 men with muscle dysmorphia resembled the 49 comparison men in demographic features, BDD severity, delusionality, and number of non-muscle-related body parts of concern. However, those with muscle dysmorphia were more likely to have attempted suicide, had poorer quality of life, and had a higher frequency of any substance use disorder and anabolic steroid abuse. Thus, muscle dysmorphia was associated with greater psychopathology. PMID:17075613

  3. Parathyroid adenoma in a young male with multiple fractures and varied clinical features.

    PubMed

    Bhanu Murthy, R; Srihari, V; Lakshmi Narayana, M

    2014-01-01

    Primary hyperparathyroidism is due to parathyroid adenoma (80-85%), hyperplasia (10-15%), carcinoma (2-3%) of cases. The most common presentation is asymptomatic hypercalcemia. Multiple pathological fractures, nephrocalcinosis as a presenting feature of primary hyperparathyroidism due to parathyroid adenoma is extremely rare at the age of 19 years. A case of parathyroid adenoma with multiple fractures of left femur, renal calculi, nephrocalcinosis, weight loss, constipation, dyspepsia abdominal pain was presented. The case was investigated completely with biochemical investigations, X-ray of forearm bones and femur, ultrasonography of neck and abdomen, CT scan of neck and abdomen, MRI scan, Scintigraphy of the neck. Right inferior parathyroid adenoma was diagnosed and confirmed by histopathological examination after excision. The post operative serum calcium levels became normal. PMID:24605315

  4. Iodine deficiency: Physiological, clinical and epidemiological features, and pre-analytical considerations.

    PubMed

    Doggui, Radhouene; El Atia, Jalila

    2015-02-01

    Low dietary intake is associated with severe pathologies (especially goiter and cretinism) that affect life quality. Iodine deficiency disorders are a major public health problem worldwide. In fact, 246 million school-aged children have insufficient iodine intake (data from 2012). Extrapoling this value to general population leads to the estimation that 1.9 billion people have insufficient iodine intake. So, it is crucial to interpret correctly data from iodine status survey. The World Health Organization recommends urinary iodine as the main indicator for the assessment of iodine status in epidemiological surveys. To improve the result, some considerations can be taken into account by the biologist, epidemiologist or public health physician for the realization of epidemiological surveys. After a reminder about the physiological and physiopathological feature of iodine, a description of some useful parameters was made to improve the exploration of iodine status in epidemiological surveys. PMID:25613936

  5. Association of Fusobacterium nucleatum with clinical and molecular features in colorectal serrated pathway.

    PubMed

    Ito, Miki; Kanno, Shinichi; Nosho, Katsuhiko; Sukawa, Yasutaka; Mitsuhashi, Kei; Kurihara, Hiroyoshi; Igarashi, Hisayoshi; Takahashi, Taiga; Tachibana, Mami; Takahashi, Hiroaki; Yoshii, Shinji; Takenouchi, Toshinao; Hasegawa, Tadashi; Okita, Kenji; Hirata, Koichi; Maruyama, Reo; Suzuki, Hiromu; Imai, Kohzoh; Yamamoto, Hiroyuki; Shinomura, Yasuhisa

    2015-09-15

    Human gut microbiota is being increasingly recognized as a player in colorectal cancers (CRCs). Evidence suggests that Fusobacterium nucleatum (F. nucleatum) may contribute to disease progression and is associated with CpG island methylator phenotype (CIMP) and microsatellite instability (MSI) in CRCs; however, to date, there are no reports about the relationship between F. nucleatum and molecular features in the early stage of colorectal tumorigenesis. Therefore, we investigated the presence of F. nucleatum in premalignant colorectal lesions. In total, 465 premalignant lesions (343 serrated lesions and 122 non-serrated adenomas) and 511 CRCs were studied. We determined the presence of F. nucleatum and analyzed its association with molecular features including CIMP, MSI and microRNA-31 status. F. nucleatum was detected in 24% of hyperplastic polyps, 35% of sessile serrated adenomas (SSAs), 30% of traditional serrated adenomas (TSAs) and 33% of non-serrated adenomas. F. nucleatum was more frequently detected in CIMP-high premalignant lesions than in CIMP-low/zero lesions (p?=?0.0023). In SSAs, F. nucleatum positivity increased gradually from sigmoid colon to cecum (p?=?0.042). F. nucleatum positivity was significantly higher in CRCs (56%) than in premalignant lesions of any histological type (p?

  6. Laboratory and clinical features of abnormal macroenzymes found in human sera.

    PubMed

    Moriyama, Takanori; Tamura, Shogo; Nakano, Keiichi; Otsuka, Kohei; Shigemura, Masahiko; Honma, Naoyuki

    2015-06-01

    We report the analysis of unusual macroenzymes, performed in our laboratory, and review the relevant literature. In particular, we focused on macro AST, macroamylase, macro LD and macro CK. Macroenzymes are seen in healthy subjects, but can also be related to disease; thus, accurate detection is useful in day-to-day clinical practice. The macroenzyme is thought to be a specific antigen-antibody complex from the following findings: (1) the complex could be dissociated under acidic pH levels; (2) binding specificity of immunoglobulin in the complex was observed; (3) the binding site of immunoglobulin in the complex was Fab portion; and (4) the maternal IgG involved with macroenzyme was transferred to her children. This article is part of a Special Issue entitled: Medical Proteomics. PMID:25545221

  7. Clinical features associated with an early onset in chronic tic disorders.

    PubMed

    Richer, Francois; Daghfal, Roula; Rouleau, Guy A; Lespérance, Paul; Chouinard, Sylvain

    2015-12-30

    In chronic tic disorders such as Tourette syndrome (TS), tics often appear between 4 and 8 years but they can also appear in early childhood, a period in which symptom expression may be affected by early brain development. The present study examined whether symptom expression in early-onset TS was distinct from that observed in TS with a later onset. We compared the clinical characteristics in children with TS who developed tics before age 4 or after age 6. Early-onset TS was significantly associated with an increased rate of stuttering and other speech disfluencies as well as an increased rate of oppositional defiant disorder, symptoms that often appear before age 4. Early-onset TS was also linked to maternal transmission of tics. Early-onset TS was not significantly associated with tic severity, obsessive-compulsive behavior or attention-deficit hyperactivity disorder. The results suggest that an early onset affects symptom expression in tic disorders. PMID:26596364

  8. Chronic neuropathic facial pain after intense pulsed light hair removal. Clinical features and pharmacological management

    PubMed Central

    Párraga-Manzol, Gabriela; Sánchez-Torres, Alba; Moreno-Arias, Gerardo

    2015-01-01

    Intense Pulsed Light (IPL) photodepilation is usually performed as a hair removal method. The treatment is recommended to be indicated by a physician, depending on each patient and on its characteristics. However, the use of laser devices by medical laypersons is frequent and it can suppose a risk of damage for the patients. Most side effects associated to IPL photodepilation are transient, minimal and disappear without sequelae. However, permanent side effects can occur. Some of the complications are laser related but many of them are caused by an operator error or mismanagement. In this work, we report a clinical case of a patient that developed a chronic neuropathic facial pain following IPL hair removal for unwanted hair in the upper lip. The specific diagnosis was painful post-traumatic trigeminal neuropathy, reference 13.1.2.3 according to the International Headache Society (IHS). Key words:Neuropathic facial pain, photodepilation, intense pulse light. PMID:26535105

  9. Fetal PCB syndrome: clinical features, intrauterine growth retardation and possible alteration in calcium metabolism

    SciTech Connect

    Yamashita, F.; Hayashi, M.

    1985-02-01

    Pregnant mothers with Yusho in Fukuoka, Nagasaki and Kochi Prefectures delivered babies with a peculiar clinical manifestation which will be called fetal PCB syndrome (FPS). The birth rate incidences were 3.6% (Fukuoka Prefecture), 4% (Nagasaki Prefecture), 2.9% (Kochi Prefecture) and 3.9% (total). The manifestations consisted of dark brown pigmentation of the skin and the mucous membrane, gingival hyperplasia, exophthalmic edematous eye, dentition at birth, abnormal calcification of the skull as demonstrated by X-ray, rocker bottom heel and high incidence of light for date (low birth weight) babies. The authors suggest that there may be a possible alteration in calcium metabolism in these babies, related to the fragile egg shells observed in PCB-contaminated birds and to the female hormone-enhancing effect of PCB. The high incidence of low birth weight among these newborns and two other similar studies indicated that PCBs suppress fetal growth.

  10. Clinical features of Sturge-Weber syndrome without facial nevus: five novel cases.

    PubMed

    Siri, Laura; Giordano, Lucio; Accorsi, Patrizia; Cossu, Massimo; Pinelli, Lorenzo; Tassi, Laura; Striano, Pasquale

    2013-01-01

    Classic Sturge-Weber syndrome (SWS) is characterized by presence of flammeus nevus involving the first sensory branch of trigeminal nerve, ipsilateral leptomeningeal angiomatosis, and choroidal angioma. Sporadic cases of SWS without facial nevus (SWS type III) have been rarely reported. Here we report the clinical and neuroradiological findings of five patients with SWS type III and compare their findings with those described in the literature. This study confirmed that SWS type III should be considered in any child or young adult presenting with seizures or complicated migraine and intracranial unilateral calcification. The diagnosis must be confirmed with contrast-enhanced MRI images of the brain. Surgical therapy should be considered in patients with drug-resistant and persistent epileptic seizures. PMID:22819211

  11. Exploring the Sociodemographic and Clinical Features of Extrapulmonary Tuberculosis in Saudi Arabia

    PubMed Central

    Al-Hajoj, Sahal; Shoukri, Mohammed; Memish, Ziad; AlHakeem, Raafat; AlRabiah, Fahad; Varghese, Bright

    2015-01-01

    Background Saudi Arabia annually reports a relatively higher proportion (28–32%) of extrapulmonary tuberculosis (EPTB) cases in comparison to other global regions. However, there were few studies conducted so far to determine the sociodemographic factors and clinical manifestations associated with EPTB at a nationwide level. Methodology A retrospective analysis on culture positive EPTB isolates collected from all the provinces of the country were conducted for a period of 12 months to determine the spectrum of diversity in EPTB infection sites and the confounding factors. A detailed clinical and demographical data analysis was carried out along with first line drug susceptibility testing. Principal Findings Intra-thoracic and extra-thoracic lymph nodes (44.6%) were the most common sites of infection followed by gastrointestinal (17.3%) and central nervous systems (11.8%). Male patients were mostly infected (58.8%), in contrary to the global trend. Any drug resistance was observed in 23.1% isolates with a 2.1% of multi-drug resistance. HIV reactivity was found only in 2.2% cases. A higher proportion of Saudi nationals (58.8%) were infected compared to the immigrants, descending mostly from South Asia (34.4%) and South East Asia (31.2%). The Saudi population predominated with all forms of EPTB while immigrants showed no significant variations. Conclusions Saudi Arabia faces a serious threat from EPTB, particularly to the central nervous system and gastrointestinal systems. More effective diagnostic strategies and control measures must be implemented to reduce the high rate of EPTB in the country. In addition, these findings warrant further detailed research to explore all related comorbid conditions of EPTB development, particularly the host-related factors. PMID:25647300

  12. Clinical and Microbiological Features of Salmonella Meningitis in a South African Population, 2003–2013

    PubMed Central

    Keddy, Karen H.; Sooka, Arvinda; Musekiwa, Alfred; Smith, Anthony M.; Ismail, Husna; Tau, Nomsa P.; Crowther-Gibson, Penny; Angulo, Frederick J.; Klugman, Keith P.

    2015-01-01

    Background The clinical and microbiological characteristics of nontyphoidal Salmonella (NTS) meningitis in South Africa, where human immunodeficiency virus (HIV) prevalence is high (approximately 15% in persons ?15 years of age), were reviewed. Methods From 2003 through 2013, 278 cases were identified through national laboratory-based surveillance. Clinical information (age, sex, outcome, Glasgow Coma Scale [GCS], and HIV status) was ascertained at selected sites. Isolates were serotyped; susceptibility testing and multilocus sequence typing on Salmonella enterica serovar Typhimurium isolates was performed. Multivariable logistic regression was used to determine factors associated with mortality outcome, using Stata software, version 13. Results Where age was ascertained, 139 of 256 (54.3%) patients were <15 years. Males represented 151 of 267 (56.6%). Mortality outcome was recorded for 112 of 146 (76.7%) enhanced surveillance patients; 53 of 112 (47.3%) died. Death was associated with GCS ?13 (adjusted odds ratio [OR], 18.7; 95% confidence interval [CI], 3.0–118.5; P = .002) on multivariable analysis. Where data were available, all 45 patients aged >15 years were HIV infected, compared with 24 of 46 (52.2%) patients aged <5 years. Neonates were less likely to be HIV infected than infants aged 2–12 months (OR, 4.8; 95% CI, 1.1–21.1; P = .039). Salmonella Typhimurium represented 106 of 238 (44.5%) serotyped isolates: 65 of 95 (68.4%) were ST313 vs ST19, respectively, and significantly associated with HIV-infected patients (P = .03) and multidrug resistance (OR, 6.6; 95% CI, 2.5–17.2; P < .001). Conclusions NTS meningitis in South Africa is highly associated with HIV in adults, with neonates (irrespective of HIV status), and with Salmonella Typhimurium ST313. GCS is the best predictor of mortality: early diagnosis and treatment are critical. Focused prevention requires further studies to understand the sources and transmission routes. PMID:26449942

  13. Mutational spectrum and clinical features in 35 unrelated mainland Chinese patients with GNE myopathy.

    PubMed

    Zhao, Juan; Wang, Zhaoxia; Hong, Daojun; Lv, He; Zhang, Wei; Chen, Juanjuan; Yuan, Yun

    2015-07-15

    GNE myopathy is an autosomal recessive distal myopathy caused by biallelic mutation in the GNE gene. It shows great genetic heterogeneity among different ethnic groups. In this study, we summarized the mutational spectrum and clinical profiles in 35 unrelated GNE myopathy patients from mainland China. Molecular analysis revealed 16 novel (p.G47D, p.F66Y, p.E173A, p.Y186H, p.R246L, p.R263*, p.R306*, p.A366D, p.V512M, p.C520Y, p.G545R, p.G548S, p.V622G, p.A638P, IVS2+1G>A and c.2112delC) and 13 reported mutations. Notably, the p.D176V mutation was detected in 65.7% (23/35) of this patient cohort, giving an allele frequency of 34.3% (24/70). We estimated the carrier frequency of p.D176V to be 0.19% (1/520) in the normal population, although haplotype analysis indicated no founder effect in the patients carrying p.D176V mutation. Clinically, 29 patients presented with the classic phenotype of predominant distal weakness, while six patients presented with atypical phenotype. However, muscle magnetic resonance imaging showed that the vastus lateralis was spared in both subgroups. In conclusion, p.D176V mutation in the GNE gene, which was the second most common mutation in Japanese patients, was the most common mutation in this cohort of Chinese patients. Novel GNE mutations found in this study expanded the mutational spectrum associated with GNE myopathy. There is phenotypic heterogeneity among patients with GNE myopathy, but muscle magnetic resonance imaging can be useful for differential diagnosis. PMID:25986339

  14. Clinical features of IgA nephropathy with serum ANCA positivity: a retrospective case–control study

    PubMed Central

    Yang, Ya-zi; Shi, Su-Fang; Chen, Yu-Qing; Chen, Min; Yang, Yi-He; Xie, Xin-Fang; Zou, Rong; Lv, Ji-Cheng; Liu, Li-Jun; Zhang, Hong

    2015-01-01

    Background The coexistence of IgA nephropathy (IgAN) and antineutrophil cytoplasmic autoantibodies (ANCAs) is relatively rare. Only a few studies have reported the features of these patients. Methods We studied the clinical and histological features of 20 ANCA-positive IgAN patients. They were compared with ANCA-negative IgAN patients (n = 40) and ANCA-associated systemic vasculitis (AASV) patients (n = 40) with a randomly selected and matched proportion of crescentic glomeruli. Furthermore, 9 ANCA-positive crescentic IgAN patients out of the 20 cases were compared with two control groups with crescentic nephritis. Results ANCA-positive IgAN patients showed older age, lower haemoglobin and higher inflammatory indicator levels at baseline, and a higher percentage of general symptoms and pulmonary involvement, compared with ANCA-negative IgAN patients, and were comparable to AASV patients. Histologically, there was a significantly higher percentage of fibrinoid necrosis in glomeruli in ANCA-positive IgAN patients and in AASV patients compared with ANCA-negative IgAN patients (35, 25 and 0%, respectively, P = 0.003). After immunosuppressive therapy, ANCA-positive crescentic IgAN patients were more likely to withdraw from dialysis (75 versus 9.1%, P = 0.03) and not to reach end-stage renal disease within 6 months (11.1 versus 66.7%, P = 0.01) compared with ANCA-negative crescentic IgAN patients. Conclusions IgAN patients with ANCA positivity showed more severe clinical and histological features when compared with ANCA-negative IgAN patients and were comparable to AASV patients. However, renal prognosis was relatively better in ANCA-positive crescentic IgAN patients after aggressive immunosuppressive therapy in the short term, compared with ANCA-negative patients. PMID:26413270

  15. Continuum of depressive and manic mixed states in patients with bipolar disorder: quantitative measurement and clinical features

    PubMed Central

    SWANN, ALAN C.; STEINBERG, JOEL L.; LIJFFIJT, MARIJN; MOELLER, GERARD F.

    2009-01-01

    Bipolar mixed states combine depressive and manic features, presenting diagnostic and treatment challenges and reflecting a severe form of the illness. DSM-IV criteria for a mixed state require combined depressive and manic syndromes, but a range of mixed states has been described clinically. A unified definition of mixed states would be valuable in understanding their diagnosis, mechanism and treatment implications. We investigated the manner in which depressive and manic features combine to produce a continuum of mixed states. In 88 subjects with bipolar disorder (DSM-IV), we evaluated symptoms and clinical characteristics, and compared depression-based, mania-based, and other published definitions of mixed states. We developed an index of the extent to which symptoms were mixed (Mixed State Index, MSI) and characterized its relationship to clinical state. Predominately manic and depressive mixed states using criteria from recent literature, as well as Kraepelinian mixed states, had similar symptoms and MSI scores. Anxiety correlated significantly with depression scores in manic subjects and with mania scores in depressed subjects. Discriminant function analysis associated mixed states with symptoms of hyperactivity and negative cognitions, but not subjective depressive or elevated mood. High MSI scores were associated with severe course of illness. For depressive or manic episodes, characteristics of mixed states emerged with two symptoms of the opposite polarity. This was a cross-sectional study. Mixed states appear to be a continuum. An index of the degree to which depressive and manic symptoms combine appears useful in identifying and characterizing mixed states. We propose a depressive or manic episode with three or more symptoms of the opposite polarity as a parsimonious definition of a mixed state. PMID:19812754

  16. Shortness of filum terminale represents an anatomical specific feature in fibromyalgia: a nuclear magnetic resonance and clinical study

    PubMed Central

    Mantia, Roberto; Di Gesù, Marco; Vetro, Angelo; Mantia, Fabrizio; Palma, Sebastiano; Iovane, Angelo

    2015-01-01

    Summary Background: we aimed to assess whether shortness of filum terminale (FT) can represent a specific feature of fibromyalgia. Therefore we investigated benefits coming from FT section with a mini-invasive technique in patients with fibromyalgia. Filum terminale disease (FD), described firstly in 1996, is consequence of an abnormal traction exerted on spinal cord since FT is shorter than usual. Fibromyalgia syndrome (FS) is featured by chronic widespread musculoskeletal pain associated with stiffness and extra-skeletal symptoms affecting many organs and systems. Filum terminale disease and fibromyalgia syndrome share common clinical features in at least one subset of patients. Methods: we evaluated 42 patients firstly diagnosed for FS and then re-evaluated by nuclear magnetic resonance. 38 out of 42 had also FD and 20 of them underwent surgical treatment, i.e., FT section according to Royo-Salvador technique. Results: after physical therapy, surgically treated patients showed significant improvement of symptoms in terms of reduction of pain and increment of quality of life, compared to group, which refused surgery and performed physical therapy only. Conclusion: we suggest that FT shortness can be considered one of predisposing causes for developing FS and that FD surgical treatment in patients with FS can improve overall treatment outcome. PMID:25878985

  17. Overlap Between Autism Spectrum Disorders and Attention Deficit Hyperactivity Disorder: Searching for Distinctive/Common Clinical Features

    PubMed Central

    Craig, Francesco; Lamanna, Anna Linda; Margari, Francesco; Matera, Emilia; Simone, Marta; Margari, Lucia

    2015-01-01

    Recent studies support several overlapping traits between autism spectrum disorders (ASD) and attention-deficit/hyperactivity disorder (ADHD), assuming the existence of a combined phenotype. The aim of our study was to evaluate the common or distinctive clinical features between ASD and ADHD in order to identify possible different phenotypes that could have a clinical value. We enrolled 181 subjects divided into four diagnostic groups: ADHD group, ASD group, ASD+ADHD group (that met diagnostic criteria for both ASD and ADHD), and control group. Intelligent quotient (IQ), emotional and behavior problems, ADHD symptoms, ASD symptoms, and adaptive behaviors were investigated through the following test: Wechsler Intelligence Scale for Children, Wechsler Preschool and Primary Scale of Intelligence or Leiter International Performances Scale Revised, Child Behavior Checklist, Conners' Rating Scales-Revised, SNAP-IV Rating Scale, the Social Communication Questionnaire, Vineland Adaptive Behavior Scales. The ASD+ADHD group differs from ADHD or ASD in some domains such as lower IQ mean level and a higher autistic symptoms severity. However, the ASD+ADHD group shares inattention and hyperactivity deficit and some emotional and behavior problems with the ADHD group, while it shares adaptive behavior impairment with ASD group. These findings provide a new understanding of clinical manifestation of ASD+ADHD phenotype, they may also inform a novel treatment target. Autism Res 2015, 8: 328–337. © 2015 International Society for Autism Research, Wiley Periodicals, Inc. PMID:25604000

  18. [Analysis on clinical features and treatment of herpes zoster patients hospitalized in real world].

    PubMed

    Yuan, Ling-Lian; Wang, Lian-Xin; Xie, Yan-Ming; Yang, Wei; Yang, Zhi-Xin; Zhuang, Yan; Zhang, Yun-Bi

    2014-09-01

    From the hospital information system (HIS) of 20 national grade III-A general hospitals, 2 960 cases of herpes zoster as the research object, analyzes the relations between the general information, syndrome of traditional Chinese medicine (TCM), western medicine combined diseases, the relationship between the solar term and the incidence of herpes zoster, and the combined use of Chinese and western medicine. Among the patients with 46-65 year old has the highest percentage of diseased; admission to general outpatient clinic is the most; the most common medical payment is medicare; combined disease such as hypertension, diabetes and coronary heart disease is more common; early treatment effect of herpes zoster is better than the sequelae; summer and autumn solar term patients is hospitalized more, TCM syndrome is damp heat of liver fire; about drugs, western medicine is the most commonly used vitamin B1 and mecobalamin, traditional Chinese medicine is the most frequently used Danhong injection, combination therapy with promoting blood circulation drugs and neurotrophic drugs. Thus, herpes zoster, more common in elderly patients, with no obvious relationship between solar term, should be early diagnosis and early treatment, often with combination of Chinese traditional and western medicine treatment. PMID:25532379

  19. [Ten-years records of organic arsenic (diphenylarsinic acid) poisoning: epidemiology, clinical feature, metabolism, and toxicity].

    PubMed

    Ishi, Kazuhiro; Tamaoka, Akira

    2015-01-01

    We report here the symptoms of diphenylarsinic acid (DPAA) poisoning recorded over 10 years since the DPAA contamination of the potable well water was first detected in the Kamisu City, Ibaraki Prefecture, in 2003. The poisoning symptoms associated with the cerebellum and brainstem included nystagmus, tremors, myoclonus, and cerebellar ataxia as well as the symptoms associated with the temporal and occipital lobes such as memory impairment, sleep disorder, and visual disturbance. Some of the affected children exhibited mental retardation. Moreover, reduced blood flow and reduced glucose metabolism in the cerebella, brainstem, and temporal and occipital lobes persisted for several years among the DPAA-exposed persons. Based on the animal studies for DPAA intoxication, the target organs for the DPAA toxicity were determined to be the central nervous system (CNS), liver, and biliary system. In particular, DPAA tends to persist in the brain for a long time, resulting in long-term impacts on the brain. The cerebral blood flow and brain glucose metabolism, which can be measured by positron emission tomography (PET) and single photon emission computed tomography (SPECT), respectively, are useful objective clinical markers to determine the effect of DPAA on CNS. We believe that continuous monitoring of the DPAA-exposed people may promote the effect of carcinogen and accelerate brain aging. PMID:25585431

  20. Serology of Lupus Erythematosus: Correlation between Immunopathological Features and Clinical Aspects

    PubMed Central

    Cozzani, Emanuele; Drosera, Massimo; Parodi, Aurora

    2014-01-01

    Systemic lupus erythematosus (SLE) is an autoimmune disease characterized by the aberrant production of a broad and heterogenous group of autoantibodies. Even though the presence of autoantibodies in SLE has been known, for more than 60 years, still nowadays a great effort is being made to understand the pathogenetic, diagnostic, and prognostic meaning of such autoantibodies. Antibodies to ds-DNA are useful for the diagnosis of SLE, to monitor the disease activity, and correlate with renal and central nervous involvements. Anti-Sm antibodies are highly specific for SLE. Anti-nucleosome antibodies are an excellent marker for SLE and good predictors of flares in quiescent lupus. Anti-histone antibodies characterize drug-induced lupus, while anti-SSA/Ro and anti-SSB/La antibodies are associated with neonatal lupus erythematosus and photosensitivity. Anti-ribosomal P antibodies play a role in neuropsychiatric lupus, but their association with clinical manifestations is still unclear. Anti-phospholipid antibodies are associated with the anti-phospholipid syndrome, cerebral vascular disease, and neuropsychiatric lupus. Anti-C1q antibodies amplify glomerular injury, and the elevation of their titers may predict renal flares. Anti-RNP antibodies are a marker of Sharp's syndrome but can be found in SLE as well. Anti-PCNA antibodies are present in 5–10% of SLE patients especially those with arthritis and hypocomplementemia. PMID:24649358

  1. The Clinical Significance and Molecular Features of the Spatial Tumor Shapes in Breast Cancers

    PubMed Central

    Jeong, Seongmun; Lee, Minju; Moon, HyunHye; Kim, Jongjin; Yoo, Tae-Kyung; Lee, Han-Byoel; Kim, Jisun; Noh, Dong-Young; Han, Wonshik

    2015-01-01

    Each breast cancer has its unique spatial shape, but the clinical importance and the underlying mechanism for the three-dimensional tumor shapes are mostly unknown. We collected the data on the three-dimensional tumor size and tumor volume data of invasive breast cancers from 2,250 patients who underwent surgery between Jan 2000 and Jul 2007. The degree of tumor eccentricity was estimated by using the difference between the spheroid tumor volume and ellipsoid tumor volume (spheroid-ellipsoid discrepancy, SED). In 41 patients, transcriptome and exome sequencing data obtained. Estimation of more accurate tumor burden by calculating ellipsoid tumor volumes did not improve the outcome prediction when compared to the traditional longest diameter measurement. However, the spatial tumor eccentricity, which was measured by SED, showed significant variation between the molecular subtypes of breast cancer. Additionally, the degree of tumor eccentricity was associated with well-known prognostic factors of breast cancer such as tumor size and lymph node metastasis. Transcriptome data from 41 patients showed significant association between MMP13 and spatial tumor shapes. Network analysis and analysis of TCGA gene expression data suggest that MMP13 is regulated by ERBB2 and S100A7A. The present study validates the usefulness of the current tumor size method in determining tumor stages. Furthermore, we show that the tumors with high eccentricity are more likely to have aggressive tumor characteristics. Genes involved in the extracellular matrix remodeling can be candidate regulators of the spatial tumor shapes in breast cancer. PMID:26669540

  2. Acute fascioliasis--clinical and epidemiological features of four patients in Chile.

    PubMed

    Fica, A; Dabanch, J; Farias, C; Castro, M; Jercic, M I; Weitzel, T

    2012-01-01

    Because of its infrequent and protean presentation and the lack of clinical data, the management of acute infections with the foodborne trematode Fasciola hepatica is challenging. We report four serologically confirmed cases that illustrate our experience with this parasitic infection in Chile. All patients were adults presenting with upper abdominal pain. Other symptoms included fever, nausea/vomiting, and cutaneous manifestations. In all cases, marked eosinophilia was present. All patients lived in an urban environment, and three reported the consumption of raw watercress. Computed tomography (CT) scans showed hypodense hepatic lesions, whereas ultrasonography findings were unremarkable. One patient suffered portal vein thrombosis, which might be a rare complication of acute fascioliasis. All patients were successfully treated with triclabendazole. Our case series demonstrates that patients with acute fascioliasis typically present with a combination of upper abdominal pain, marked eosinophilia, and hypodense hepatic lesions on CT imaging. Diagnosis should be confirmed by serological investigation. A history of recent consumption of raw watercress is an important finding, but in some patients the source of infection remains obscure. PMID:21668579

  3. Morphological Features and In Vitro Cytopathic Effect of Acanthamoeba griffini Trophozoites Isolated from a Clinical Case

    PubMed Central

    González-Robles, Arturo; Salazar-Villatoro, Lizbeth; Omaña-Molina, Maritza; Reyes-Batlle, Maria; Martín-Navarro, Carmen M.; Lorenzo-Morales, Jacob

    2014-01-01

    Light and transmission electron microscopy observations are reported on the structure and in vitro cytopathic effect of Acanthamoeba griffini trophozoites isolated from a clinical case. Live trophozoites were moderately active with a remarkable pleomorphism which changed from ovoid to quite elongated shapes. When moving, amoebae formed cytoplasmic projections such as wide lamellae and acanthopodia of diverse size and thickness which contain a significant amount of actin. Ultrastructurally, the cytoplasm showed the main organelles found in other free-living amoebae. Coincubation of trophozoites with MDCK cell monolayers resulted in a local damage to target cells after 24?h of interaction, suggesting that the cytopathic effect is contact-dependent. By transmission electron microscopy, amoebae appeared to engulf small portions of the MDCK cells; however, the cells that were not in contact with trophozoites had an unaltered morphology. When epithelial monolayers were incubated with conditioned medium for 24?h, small areas of cell injury were also observed. The phylogenetical analysis as well as the sequencing of the acquired amplified product for the DF3 region of the amoebae isolate confirmed that it belongs to genotype T3, which includes other pathogenic amoebae; besides the activity of two drugs currently used against Acanthamoeba was tested on A. griffini. PMID:25313337

  4. Clinical Features of Reported Ethylene Glycol Exposures in the United States

    PubMed Central

    Jobson, Meghan A.; Hogan, Susan L.; Maxwell, Colin S.; Hu, Yichun; Hladik, Gerald A.; Falk, Ronald J.; Beuhler, Michael C.; Pendergraft, William F.

    2015-01-01

    Background Ethylene glycol is highly toxic and represents an important cause of poisonings worldwide. Toxicity can result in central nervous system dysfunction, cardiovascular compromise, elevated anion gap metabolic acidosis and acute kidney injury. Many states have passed laws requiring addition of the bittering agent, denatonium benzoate, to ethylene glycol solutions to reduce severity of exposures. The objectives of this study were to identify differences between unintentional and intentional exposures and to evaluate the utility of denatonium benzoate as a deterrent. Methods and Findings Using the National Poison Data System, we performed a retrospective analysis of reported cases of ethylene glycol exposures from January 2006 to December 2013. Outcome classification was summed for intentionality and used as a basis for comparison of effect groups. There were 45,097 cases of ethylene glycol exposures resulting in 154 deaths. Individuals more likely to experience major effects or death were older, male, and presented with more severe symptoms requiring higher levels of care. Latitude and season did not correlate with increased exposures; however, there were more exposures in rural areas. Denatonium benzoate use appeared to have no effect on exposure severity or number. Conclusion Deaths due to ethylene glycol exposure were uncommon; however, there were major clinical effects and more exposures in rural areas. Addition of denatonium benzoate was not associated with a reduction in exposures. Alternative means to deter ingestion are needed. These findings suggest the need to consider replacing ethylene glycol with alternative and less toxic agents. PMID:26566024

  5. Clinical, radiological and therapeutic features of keratocystic odontogenic tumours: a study over a decade.

    PubMed

    Sánchez-Burgos, Rocío; González-Martín-Moro, Javier; Pérez-Fernández, Elia; Burgueño-García, Miguel

    2014-07-01

    Factors associated with the potential for recurrence of keratocystic odontogenic tumours (KCOT) still remain to be clearly determined and no consensus exists concerning the management of KCOT. The purpose of this study was to evaluate different clinical factors associated with KCOT and its treatment methods. A retrospective review was performed of 55 cases treated from 2001 to 2010. Of the 55 cases, 27% were associated with an impacted or semi-impacted tooth. The majority of the lesions (82%) were located in tooth-bearing areas, and the overall mandibular to maxilla ratio of tumour occurrence was 5:1. The treatment options included enucleation, marsupialisation, or peripheral ostectomy, with or without the use of Carnoy´s solution. Recurrence was found in 14 cases (25%). No significant association was seen between recurrence and age, symptomatic cases, location of the lesion, or unilocular or multilocular appearance. The recurrence rate was higher in the group with tooth involvement, more marked in cases with third molar involvement. Statistical analysis showed a significant relation between recurrence and the type of treatment, with higher rates in cases treated with enucleation associated with tooth extraction. In our series, those cases with a closer relation with dental tissues showed a higher risk of recurrence, suggesting the need for a distinct classification for peripheral variants of KCOT. Key words:Keratocystic odontogenic tumour, Odontogenic keratocyst, Odontogenic cysts, Keratocyst, Carnoy's solution. PMID:25136427

  6. Clinical, radiological and therapeutic features of keratocystic odontogenic tumours: a study over a decade

    PubMed Central

    González-Martín-Moro, Javier; Pérez-Fernández, Elia; Burgueño-García, Miguel

    2014-01-01

    Factors associated with the potential for recurrence of keratocystic odontogenic tumours (KCOT) still remain to be clearly determined and no consensus exists concerning the management of KCOT. The purpose of this study was to evaluate different clinical factors associated with KCOT and its treatment methods. A retrospective review was performed of 55 cases treated from 2001 to 2010. Of the 55 cases, 27% were associated with an impacted or semi-impacted tooth. The majority of the lesions (82%) were located in tooth-bearing areas, and the overall mandibular to maxilla ratio of tumour occurrence was 5:1. The treatment options included enucleation, marsupialisation, or peripheral ostectomy, with or without the use of Carnoy´s solution. Recurrence was found in 14 cases (25%). No significant association was seen between recurrence and age, symptomatic cases, location of the lesion, or unilocular or multilocular appearance. The recurrence rate was higher in the group with tooth involvement, more marked in cases with third molar involvement. Statistical analysis showed a significant relation between recurrence and the type of treatment, with higher rates in cases treated with enucleation associated with tooth extraction. In our series, those cases with a closer relation with dental tissues showed a higher risk of recurrence, suggesting the need for a distinct classification for peripheral variants of KCOT. Key words:Keratocystic odontogenic tumour, Odontogenic keratocyst, Odontogenic cysts, Keratocyst, Carnoy’s solution. PMID:25136427

  7. Clinical and pathologic features of West Nile virus infection in native North American owls (Family strigidae).

    PubMed

    Fitzgerald, S D; Patterson, J S; Kiupel, M; Simmons, H A; Grimes, S D; Sarver, C F; Fulton, R M; Steficek, B A; Cooley, T M; Massey, J P; Sikarskie, J G

    2003-01-01

    Since the initial report of West Nile virus in the northeastern United States in 1999, the virus has spread rapidly westward and southward across the country. In the summer of 2002, several midwestern states reported increased cases of neurologic disease and mortality associated with West Nile virus infection in various native North American owl species. This report summarizes the clinical and pathologic findings for 13 captive and free-ranging owls. Affected species were all in the family Strigidae and included seven snowy owls (Nyctea scandiaca), four great-horned owls (Bubo virginianus), a barred owl (Strix varia), and a short-eared owl (Asio flammeus). Neurologic signs identified included head tilt, uncoordinated flight, paralysis, tremors, and seizures. Owls that died were screened for flaviviral proteins by immunohistochemical staining of formalin-fixed tissues, followed by specific polymerase chain reaction assay to confirm West Nile virus with fresh tissues when available. Microscopic lesions were widespread, involving brain, heart, liver, kidney, and spleen, and were typically nonsuppurative with infiltration by predominantly lymphocytes and plasma cells. Lesions in owls were much more severe than those previously reported in corvids such as crows, which are considered highly susceptible to infection and are routinely used as sentinel species for monitoring for the presence and spread of West Nile virus. This report is the first detailed description of the pathology of West Nile virus infection in Strigiformes and indicates that this bird family is susceptible to natural infection with West Nile virus. PMID:14562887

  8. Microbiological Features and Clinical Relevance of New Species of the Genus Mycobacterium

    PubMed Central

    2014-01-01

    SUMMARY Nontuberculous mycobacteria (NTM) are present in the environment, mainly in water, and are occasionally responsible for opportunistic infections in humans. Despite the fact that NTM are characterized by a moderate pathogenicity, the diseases caused by NTM at various body sites are increasing on a worldwide level. Among over 150 officially recognized NTM species, only two or three dozen are familiar to clinicians, and even to most microbiologists. In this paper, approximately 50 new species described in the last 8 years are reviewed, and their role in human infections is assessed on the basis of reported clinical cases. The small number of reports concerning most of the “new” mycobacterial species is responsible for the widespread conviction that they are very rare. Their role is actually largely underestimated, mainly because they often remain unrecognized and misidentified. Aiming to minimize such bias, emphasis has been placed on more common identification pitfalls. Together with new NTM, new members of the Mycobacterium tuberculosis complex described in the last few years are also an object of the present review. PMID:25278573

  9. The backward masking red light effect in schizophrenia: relationship to clinical features and neurocognitive performance.

    PubMed

    Bedwell, Jeffrey S; Rassovsky, Yuri; Orem, Diana M; Kamath, Vidyulata

    2011-05-01

    The "backward masking red light effect" involves a change in visual backward masking performance with a red (compared with a green or gray) background that is in the opposite direction relative to nonpsychiatric controls. This effect has been previously reported in individuals with schizophrenia, their first-degree relatives, and a schizotypy sample. The current study provides the first examination of the relationship of this effect with clinical and neurocognitive measures in a new sample of higher functioning patients with schizophrenia. A location backward masking by pattern task was administered to 16 outpatients with schizophrenia and 21 nonpsychiatric controls. The task was presented on red, green, and gray backgrounds. There was a significant group by color interaction at the 60-ms stimulus onset asynchrony: Participants with schizophrenia tended to decrease accuracy with a red (compared with a gray) background, whereas controls tended to increase accuracy. This interaction remained significant after covarying for baseline (gray) backward masking accuracy. In the schizophrenia patients, a decrease in backward masking accuracy to the red background was correlated with more negative symptoms, lower estimated premorbid IQ, and greater color-word Stroop interference but was not related to positive or disorganized symptoms, age of onset, duration of illness, digit symbol coding performance, or baseline (gray) backward masking accuracy. In contrast, there was no relationship between the red light change score and any of the neurocognitive variables in the control group. PMID:21280929

  10. Clinical and morphological features of patients who underwent endovascular interventions for lower extremity arterial occlusive diseases

    PubMed Central

    Arslan, Sakir; Yuksel, Isa Oner; Koklu, Erkan; Cagirci, Goksel; Ureyen, Cagin Mustafa; Bayar, Nermin; Kus, Gorkem

    2015-01-01

    Introduction Patients with peripheral arterial disease (PAD) are at increased risk for all-cause mortality and cardiovascular mortality. Aim To present anatomical and morphological characteristics of patients who underwent endovascular stenting with laboratory and our mid-term results. Material and methods One hundred fifty-three patients (mean age: 62.8, 86% male) who underwent percutaneous intervention of lower extremity arteries were included in the study. Demographic characteristics, medical history, physical examination and laboratory findings of patients were analyzed. Patients’ lesions were classified according to the TransAtlantic Inter-Society Consensus (TASC). Clinical outcomes included complications and mortality, 6-minute walking distance, functional class (NYHA) and patency rates. Results Seventy percent of patients had hypertension, 42% were smokers, 78% had coronary artery disease, 20% had coronary artery bypass grafting, 55% had diabetes mellitus and 71% had dyslipidemia. Six patients with diabetes mellitus and poor wound healing despite medical therapy were treated with stenting leading to alleviation of pain and avoidance of amputation. The initial technical success rate of revascularization was 95.6% (153/160). Our mid-term results show that percutaneous procedures in lower extremity arterial diseases can be performed with low complication and high success rates. Patients’ 6-minute walk distance, ankle/brachial index values, functional class and the status of foot ulcers were evaluated. Conclusions Especially in patients with distal vascular disease, poor wound healing and no chance of surgical revascularization, percutaneous endovascular revascularization may provide good blood flow and prevent amputation. PMID:26161103

  11. Apathy in Parkinson's disease: clinical features, neural substrates, diagnosis, and treatment.

    PubMed

    Pagonabarraga, Javier; Kulisevsky, Jaime; Strafella, Antonio P; Krack, Paul

    2015-05-01

    Normal maintenance of human motivation depends on the integrity of subcortical structures that link the prefrontal cortex with the limbic system. Structural and functional disruption of different networks within these circuits alters the maintenance of spontaneous mental activity and the capacity of affected individuals to associate emotions with complex stimuli. The clinical manifestations of these changes include a continuum of abnormalities in goal-oriented behaviours known as apathy. Apathy is highly prevalent in Parkinson's disease (and across many neurodegenerative disorders) and can severely affect the quality of life of both patients and caregivers. Differentiation of apathy from depression, and discrimination of its cognitive, emotional, and auto-activation components could guide an individualised approach to the treatment of symptoms. The opportunity to manipulate dopaminergic treatment in Parkinson's disease allows researchers to study a continuous range of motivational states, from apathy to impulse control disorders. Parkinson's disease can thus be viewed as a model that provides insight into the neural substrates of apathy. PMID:25895932

  12. Small Cell Undifferentiated Variant of Hepatoblastoma: Adverse Clinical and Molecular Features Similar to Rhabdoid Tumors

    PubMed Central

    Trobaugh-Lotrario, Angela D.; Tomlinson, Gail E.; Finegold, Milton J.; Gore, Lia; Feusner, James H.

    2010-01-01

    Background Small cell undifferentiated (SCU) histology in patients with stage I hepatoblastoma (HB) predicts an increased risk of relapse. We sought to determine the significance of SCU histology in patients with unresectable HB. Procedure Patients enrolled on the pediatric Intergroup (INT0098) trial for HB and patients from the personal consultation files of two of the authors (MF, LG) were reviewed for cases with SCU histology. These patients were compared with SCU HB patients identified by literature review. Results Eleven patients were studied. All patients with reported AFP results exhibited normal or minimally increased serum AFP levels. None of the patients survived: 10 died of disease progression, and 1 died from treatment complications. Immunostaining revealed that tumors from six of six patients tested were INI1 negative. Cytogenetic and molecular abnormalities in 1 patient (and 2 patients from the literature review) were similar to those described in rhabdoid tumors. Comparison with patients from the literature review revealed similar results except that four of 29 patients survived without evidence of disease. Conclusions SCU histology in HB patients is associated with an adverse outcome. These tumors appear to be biologically different from non-SCU HB. Evaluation of patient characteristics and outcomes for children with SCU HB and/or those with low AFP levels should be determined from large cooperative group studies. In the meantime, we suggest patients with unresectable HB containing SCU elements have careful cytogenetic, molecular, and immunohistochemical evaluation to ascertain rhabdoid features and receive treatment that differs from that provided for other HB patients. PMID:18985717

  13. Nosocomial Bloodstream Infections in Brazilian Pediatric Patients: Microbiology, Epidemiology, and Clinical Features

    PubMed Central

    Pereira, Carlos Alberto Pires; Marra, Alexandre R.; Camargo, Luis Fernando Aranha; Pignatari, Antônio Carlos Campos; Sukiennik, Teresa; Behar, Paulo Renato Petersen; Medeiros, Eduardo Alexandrino Servolo; Ribeiro, Julival; Girão, Evelyne; Correa, Luci; Guerra, Carla; Carneiro, Irna; Brites, Carlos; Reis, Marise; de Souza, Marta Antunes; Tranchesi, Regina; Barata, Cristina U.; Edmond, Michael B.

    2013-01-01

    Background Nosocomial bloodstream infections (nBSIs) are an important cause of morbidity and mortality and are the most frequent type of nosocomial infection in pediatric patients. Methods We identified the predominant pathogens and antimicrobial susceptibilities of nosocomial bloodstream isolates in pediatric patients (?16 years of age) in the Brazilian Prospective Surveillance for nBSIs at 16 hospitals from 12 June 2007 to 31 March 2010 (Br SCOPE project). Results In our study a total of 2,563 cases of nBSI were reported by hospitals participating in the Br SCOPE project. Among these, 342 clinically significant episodes of BSI were identified in pediatric patients (?16 years of age). Ninety-six percent of BSIs were monomicrobial. Gram-negative organisms caused 49.0% of these BSIs, Gram-positive organisms caused 42.6%, and fungi caused 8.4%. The most common pathogens were Coagulase-negative staphylococci (CoNS) (21.3%), Klebsiella spp. (15.7%), Staphylococcus aureus (10.6%), and Acinetobacter spp. (9.2%). The crude mortality was 21.6% (74 of 342). Forty-five percent of nBSIs occurred in a pediatric or neonatal intensive-care unit (ICU). The most frequent underlying conditions were malignancy, in 95 patients (27.8%). Among the potential factors predisposing patients to BSI, central venous catheters were the most frequent (66.4%). Methicillin resistance was detected in 37 S. aureus isolates (27.1%). Of the Klebsiella spp. isolates, 43.2% were resistant to ceftriaxone. Of the Acinetobacter spp. and Pseudomonas aeruginosa isolates, 42.9% and 21.4%, respectively, were resistant to imipenem. Conclusions In our multicenter study, we found a high mortality and a large proportion of gram-negative bacilli with elevated levels of resistance in pediatric patients. PMID:23861860

  14. Influenza vaccination responses in human systemic lupus erythematosus: impact of clinical and demographic features

    PubMed Central

    Crowe, Sherry R.; Merrill, Joan T.; Vista, Evan S.; Dedeke, Amy B.; Thompson, David M.; Stewart, Scott; Guthridge, Joel M.; Niewold, Timothy B.; Franek, Beverly S.; Air, Gillian M.; Thompson, Linda F.; James, Judith A.

    2011-01-01

    Objective Vaccination against common pathogens, such as influenza, is recommended for SLE patients to decrease infections and improve health. However, most vaccination response reports are limited to evaluation of SLE patients with quiescent disease. This study focuses on understanding the clinical, serological, therapeutic, and demographic factors which influence the response to influenza vaccination in patients with a range of disease activities. Methods Blood specimens and disease activity information were collected from seventy-two SLE patients at baseline and 2, 6 and 12 weeks after influenza vaccination. Influenza-specific antibody responses were assessed for antibody concentration (Bmax), relative affinity (Ka), and hemagglutination inhibition (HAI). Using a cumulative score, the subjects were evenly divided into high and low responders. Autoantibody levels were evaluated at each time-point by immunofluorescence and standard ELISAs. Results Low responders to the vaccine were more likely to have hematologic criteria (p=0.009), exhibit more ACR criteria (p=0.05), and be on concurrent prednisone treatment (p=0.04). Interestingly, European American patients were more likely to be low responders than African Americans (p = 0.03). Following vaccination, low responders were more likely to experience disease flares (p=0.01) and to have increased ANA titers (p = 0.04). Baseline serum interferon alpha activity was significantly higher in patients that experienced a flare after vaccination compared to a matched group of patients that did not flare (p= 0.04). Conclusions Ancestral background, prednisone treatment, hematological criteria and evidence of increased disease flares were associated with low antibody responses to influenza vaccination in SLE patients. PMID:21598235

  15. Analysis of Clinical Feature and Management of Fish Bone Ingestion of Upper Gastrointestinal Tract

    PubMed Central

    Kim, Jin Pyeong; Kwon, Oh Jin; Shim, Hyun Seok; Kim, Rock Bum; Kim, Jin Hyun

    2015-01-01

    Objectives Fish bone impaction in the upper gastrointestinal tract is a common reason for patients to seek emergent care. The aim of this study was to find a clinical characteristics of patients with fish bone impaction in the upper gastrointestinal tract. Methods The study was conducted on 286 fish bone ingestion patients who complained of dysphagia and irritation after eating fish. The patients were treated according to the hospital protocol regarding the removal of fish bone. The parameters for the analysis included the age and sex of the patients, location and characteristics of the foreign body, method of removal, and type of fish. Results The fish bone could be observed by the physical examination in the oral cavity and laryngopharynx in 198 patients (69.23%). For those patients in whom the foreign body could not be observed in oral cavity and laryngopharynx, noncontrast computed tomography (CT) (from nasopharynx to diaphragm) was performed. The fish bone was discovered in the esophagus of 66 patients (23.08%). The esophageal fish bone was successfully removed by transnasal flexible esophagoscopy (TNE) in 55 patients, the fish bone moved to the stomach in 10 patients and one fish bone was removed by rigid esophagoscopy due to esophageal abscess. The esophageal fish bone was mostly found in patients aged 50 years and older. Conclusion Fish bone foreign body ingestion in the esophagus appeared to be more common in older patients. Incorporating noncontrast CT and TNE can facilitate decision-making and adequate treatment for patients with fish bone impactions. PMID:26330922

  16. A Comparison of Clinical Features, Pathology and Outcomes in Various Subtypes of Breast Cancer in Indian Women

    PubMed Central

    Mane, Anupama; Deshmukh, Sanjay P.; Nag, Shona M.; Sane, S. P.; Zade, Bhushan P.

    2015-01-01

    Background Breast cancer is often classified into subtypes using immunohistochemical markers. These subtypes have distinct biological behaviour. This study was conducted with the aim of estimating the distribution of various subtypes of breast cancer in Indian population based on immunohistochemistry markers and to determine the clinical features, pathology and outcomes of these subtypes of breast cancer. Materials and Methods A retrospective study was undertaken and all patients of breast cancer over a 5 year period were included. These patients were divided into 4 subgroups depending on the presence or absence of immunohistochemical markers: i) Luminal A (ER/PR+, Her 2 neu–); ii) Luminal B (ER/PR+, Her 2 neu+); iii) Her 2 enriched (ER-/PR-, Her 2 neu+) and; iv) Triple negative (ER-, PR-, Her2 neu-). Clinical and pathological features and survival were compared between patients in the 4 subgroups. Results Luminal A subgroup had majority of patients (43.8%). Patients in Luminal B, Her 2 enriched, and Triple negative subgroups were 14.8%, 16.1% and 25.3%. Median follow-up of patients was for 34 months. Luminal A subgroup patients were more likely to be postmenopausal and have smaller and lower grade (I/II) tumours with better survival (OS-91.06%). Patients in the Triple negative subgroup were more likely to be premenopausal (p-value 0.036, odds ratio 0.611, CI 0.394-0.949), have larger and higher grade (III) tumours with worse overall survival (OS-88.46%, odds ratio 1.32, 95%CI 0.602-2.39). Her 2 enriched group patients had bad prognostic features like larger size of tumour and higher grade of tumour and worst survival among all the subgroups (OS-85.07%, odds ratio 1.78, 95% CI 0.767-4.163). However, these outcomes were not statistically significant for the subgroups. Conclusion A retrospective study was undertaken of breast cancer patients in India, according to subtypes based on immunohistochemistry. Luminal A had prognostic features and survival which was better as compared to other subgroups (Luminal B, Her 2 enriched and Triple negative). Incidence of patients with Triple negative breast cancer was higher in the premenopausal period. Patients with Her 2 enriched breast cancer had the worst survival among all the subgroups. PMID:26500944

  17. Correlation between histologic staging, hepatitis C virus genotypes and clinical features in HCV chronic hepatitis: evidence of a new pattern.

    PubMed

    Di Tommaso, L; Macchia, S; Morandi, L; Leoncini, S; Pession, A; Dal Monte, P R; Foschini, M P

    2003-07-01

    Genome heterogeneity may be related to the wide variability of clinical and pathological features in hepatitis C virus (HCV)-related chronic liver disease. This paper addresses the possible association between HCV subtypes and clinical and histological features of chronically infected patients. Sixty-eight consecutive liver biopsies of chronic hepatitis constituted the basis of the study. HCV genotyping was performed on frozen tissue. Grading of necroinflammatory activity and staging of fibrosis were histologically assessed. Serologic HCV-RNA and liver function were assessed at the same time. All information was compared with clinical data including age, sex, HCV serology, and probable data and route of infection. Two cases were excluded as inadequate tissue was available. Five cases were negative to HCV-RNA in both serum and tissue. In 61 cases HCV RNA was present at the same time in serum and liver tissue. Forty-four patients were men (72%) and 17 (28%) were women. Two peaks of age were observed: 1 in the 4th decade of life, the 2nd in the 7th. The 2 groups had different HCV genotypes. Patients with genotypes 1b (mean age 50.7 years), 2c (mean age 61.3 years), and a subgroup of coinfections (mean age 60 years) were older than patients with genotypes 1a (mean age 35.5 years), 3 (mean age 36 years), and a subgroup of coinfections (mean age 33 years). Patients with genotypes 1b, 2, or 2c and a subgroup of coinfections more frequently had a history of blood transfusion and or surgical intervention dating up to 49 years previously. Patients with HCV 1a, 3, and a subgroup of coinfections frequently admitted a period of intravenous drug abuse. Patients with advanced liver disease, i.e., severe fibrosis and cirrhosis, showed the same 2 peaks of incidence: in the 4th and 7th decades of life, the first group mainly comprising patients with HCV types 1a and 3, the second, patients with HCV types 1b and 2c. Both these groups shared a clinical history of a long-standing infection. Two profiles of patients emerged. The largest group was composed of elderly patients, infected by HCV genotypes 1b or 2c, with a history of blood transfusion and/or surgery, presenting an advanced stage of liver disease (namely, severe fibrosis or cirrhosis). The second group was composed of younger patients, mainly in the 4th decade of life, infected by HCV types 3 or 1a, often presenting with chronic hepatitis in the stage of severe fibrosis or cirrhosis. The latter could be the profile of HCV infection in the near future. PMID:12894351

  18. Single center study on ethnic and clinical features of Behcet's disease in Moscow, Russia.

    PubMed

    Lennikov, Anton; Alekberova, Zemfira; Goloeva, Regina; Kitaichi, Nobuyoshi; Denisov, Lev; Namba, Kenichi; Takeno, Mitsuhiro; Ishigatsubo, Yoshiaki; Mizuki, Nobuhisa; Nasonov, Eugeny; Ishida, Susumu; Ohno, Shigeaki

    2015-02-01

    For the purpose of investigating Behcet's disease (BD) in Russia, 250 consecutive patients (177 men and 73 women) diagnosed with BD between 1990 and 2010 at the Research Institute of Rheumatology, Russian Academy of Medical Sciences in Moscow were enrolled in this study. The ethnic backgrounds of the patients were reported as follows: 23.2% (58 cases) from Russia, 12.8% (32 cases) from Azerbaijan, 14.4% (36 cases) from Armenia, 8.8% (22 cases) from Chechnya, and 21.6% (55 cases) from Dagestan. The remaining 19.2% (48 cases) were from other regions or of unknown origin. More than half (57.6%) of the Behcet's disease patients originated from Central Asia, specifically Azerbaijan, Armenia, Chechnya, and Dagestan. The mean age at disease onset was 31.5?±?9.38 (13-60)?years old, and the most typical initial manifestations were oral aphthous ulcers. Patients aged 20-39 years old were more commonly affected and displayed a wide clinical spectrum of the disease, with varieties of severe internal organ involvement. The manifestations observed throughout the course of the disease included oral aphthous ulcers (100%), various cutaneous lesions (88.8%), genital ulcers (81.2%), and ocular lesions (54.0%). Besides these, many organs/systems were implicated in patient cases, namely joint (53.2%), vascular (25.2%), neurological (8.0%), gastrointestinal (25.2%), and cardiac (5.6%) systems. Involvements of ocular (p?

  19. Epidemiological and clinical features of human rabies cases in Bali 2008-2010

    PubMed Central

    2012-01-01

    Background Previously thought to be rabies free, Bali experienced an outbreak of animal and human rabies cases in November 2008. We describe the epidemiological and clinical data of human rabies cases occurring in the first two years of the outbreak. Methods We analysed the patient records of all rabies cases from the Sanglah General Hospital in Denpasar, and district hospitals in Buleleng and Tabanan. A conventional reverse transcriptase polymerase chain reaction was developed to detect the rabies virus genome in saliva, corneal swabs, and ante- and post-mortem cerebrospinal fluid (CSF). Results There were 104 human rabies cases in Bali during November 2008-November 2010. Patients' mean age was 36.6 years (range 3-84 years; SD 20.7), most were male (56.7%), and originated from rural districts. Almost all (92%) cases had a history of dog bite. Only 5.8% had their wounds treated and received an anti-rabies vaccine (ARV) after the bite incident. No patients received rabies immunoglobulin (RIG). The estimated time from dog bite to the onset of signs and symptoms was 110.4 days (range 12-720 days; SD 118.2). The mean length of medical care until death was 21.8 hours (range 1-220 hours; SD 32.6). Less than 50% of patients had prodromal symptoms. The most frequent prodromal symptom was pain or paraesthesia at the bite site (37.6%). The two most common central nervous system infection signs were agitation (89.2%) and confusion (83.3%). Signs of autonomic nervous system dysfunction included hydrophobia (93.1%), hypersalivation (88.2%), and dyspnea (74.4%). On admission, 22 of 102 patients (21.6%) showed paralytic manifestations, while the rest (78.4%) showed furious rabies manifestations. The case-fatality rate was 100%. The rabies virus genome was detected in 50 of 101 patients (49.5%) with the highest detection rate from post-mortem CSF samples. Conclusions Rabies is a major public health problem in Bali. Human fatalities occur because of a lack of knowledge regarding rabies risk, the poor management of dog bites, and the limited availability of RIG. Increasing public awareness of dog bite management, increasing the availability of ARV and RIG, and implementing an island-wide dog vaccination campaign will help prevent human rabies cases. PMID:22471410

  20. Clinical features and visual outcomes of scleritis patients presented to tertiary care eye centers in Saudi Arabia

    PubMed Central

    Al Barqi, Mohammad; Behrens, Ashley; Alfawaz, Abdullah M.

    2015-01-01

    AIM To describe the clinical features, systemic associations, treatment and visual outcomes in Saudi patients with scleritis. METHODS A retrospective chart review was performed for patients with scleritis presenting to two tertiary care eye hospitals in Riyadh, Saudi Arabia, from 2001 to 2011. Data were collected on the clinical features of scleritis, subtypes of scleritis, associated systemic disease, history of previous ocular surgery and medical therapy, including the use of immunosuppressants. Treatment outcomes were evaluated based on best-corrected visual acuity (BCVA) and response to treatment. RESULTS Of the 52 patients included in the study, non-necrotizing anterior scleritis was the most common type of scleritis in 22 patients (42.3%), followed by posterior scleritis in 14 patients (26.9%). The majority of cases, 31 patients (59.6%), were idiopathic in nature. Systemic associations were present in 12 patients (23.1%). Infectious scleritis was confirmed in 6 patients (11.5%): 3 with bacterial scleritis after pterygium excision, 2 patients with scleritis related to tuberculosis and 1 patient with scleritis resulting from herpes simplex infection. For the various subtypes of scleritis, BCVA values after treatment and time to remission significantly differed (P<0.05, all cases). Systemic immunosuppressive therapies in addition to steroids were administered to 46.2% of all patients. The T-sign was present on B-scan ultrasonography in 9 (64.3%) of the 14 posterior scleritis patients. CONCLUSION Non-necrotizing anterior scleritis was the most common subtype of scleritis. Final visual outcome and time to remission differed among the various scleritis subtypes. PMID:26682176

  1. A Clinical, Neuropathological and Genetic Study of Homozygous A467T POLG-Related Mitochondrial Disease.

    PubMed

    Rajakulendran, Sanjeev; Pitceathly, Robert D S; Taanman, Jan-Willem; Costello, Harry; Sweeney, Mary G; Woodward, Cathy E; Jaunmuktane, Zane; Holton, Janice L; Jacques, Thomas S; Harding, Brian N; Fratter, Carl; Hanna, Michael G; Rahman, Shamima

    2016-01-01

    Mutations in the nuclear gene POLG (encoding the catalytic subunit of DNA polymerase gamma) are an important cause of mitochondrial disease. The most common POLG mutation, A467T, appears to exhibit considerable phenotypic heterogeneity. The mechanism by which this single genetic defect results in such clinical diversity remains unclear. In this study we evaluate the clinical, neuropathological and mitochondrial genetic features of four unrelated patients with homozygous A467T mutations. One patient presented with the severe and lethal Alpers-Huttenlocher syndrome, which was confirmed on neuropathology, and was found to have a depletion of mitochondrial DNA (mtDNA). Of the remaining three patients, one presented with mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (MELAS), one with a phenotype in the Myoclonic Epilepsy, Myopathy and Sensory Ataxia (MEMSA) spectrum and one with Sensory Ataxic Neuropathy, Dysarthria and Ophthalmoplegia (SANDO). All three had secondary accumulation of multiple mtDNA deletions. Complete sequence analysis of muscle mtDNA using the MitoChip resequencing chip in all four cases demonstrated significant variation in mtDNA, including a pathogenic MT-ND5 mutation in one patient. These data highlight the variable and overlapping clinical and neuropathological phenotypes and downstream molecular defects caused by the A467T mutation, which may result from factors such as the mtDNA genetic background, nuclear genetic modifiers and environmental stressors. PMID:26735972

  2. Nonclinical and Clinical Enterococcus faecium Strains, but Not Enterococcus faecalis Strains, Have Distinct Structural and Functional Genomic Features

    PubMed Central

    Kim, Eun Bae

    2014-01-01

    Certain strains of Enterococcus faecium and Enterococcus faecalis contribute beneficially to animal health and food production, while others are associated with nosocomial infections. To determine whether there are structural and functional genomic features that are distinct between nonclinical (NC) and clinical (CL) strains of those species, we analyzed the genomes of 31 E. faecium and 38 E. faecalis strains. Hierarchical clustering of 7,017 orthologs found in the E. faecium pangenome revealed that NC strains clustered into two clades and are distinct from CL strains. NC E. faecium genomes are significantly smaller than CL genomes, and this difference was partly explained by significantly fewer mobile genetic elements (ME), virulence factors (VF), and antibiotic resistance (AR) genes. E. faecium ortholog comparisons identified 68 and 153 genes that are enriched for NC and CL strains, respectively. Proximity analysis showed that CL-enriched loci, and not NC-enriched loci, are more frequently colocalized on the genome with ME. In CL genomes, AR genes are also colocalized with ME, and VF are more frequently associated with CL-enriched loci. Genes in 23 functional groups are also differentially enriched between NC and CL E. faecium genomes. In contrast, differences were not observed between NC and CL E. faecalis genomes despite their having larger genomes than E. faecium. Our findings show that unlike E. faecalis, NC and CL E. faecium strains are equipped with distinct structural and functional genomic features indicative of adaptation to different environments. PMID:24141120

  3. GATA-3 expression identifies a high-risk subset of PTCL, NOS with distinct molecular and clinical features

    PubMed Central

    Wang, Tianjiao; Feldman, Andrew L.; Wada, David A.; Lu, Ye; Polk, Avery; Briski, Robert; Ristow, Kay; Habermann, Thomas M.; Thomas, Dafydd; Ziesmer, Steven C.; Wellik, Linda E.; Lanigan, Thomas M.; Witzig, Thomas E.; Pittelkow, Mark R.; Bailey, Nathanael G.; Hristov, Alexandra C.; Lim, Megan S.; Ansell, Stephen M.

    2014-01-01

    The cell of origin and the tumor microenvironment’s role remain elusive for the most common peripheral T-cell lymphomas (PTCLs). As macrophages promote the growth and survival of malignant T cells and are abundant constituents of the tumor microenvironment, their functional polarization was examined in T-cell lymphoproliferative disorders. Cytokines that are abundant within the tumor microenvironment, particularly interleukin (IL)-10, were observed to promote alternative macrophage polarization. Macrophage polarization was signal transducer and activator of transcription 3 dependent and was impaired by the Janus kinase inhibitor ruxolitinib. In conventional T cells, the production of T helper (Th)2-associated cytokines and IL-10, both of which promote alternative macrophage polarization, is regulated by the T-cell transcription factor GATA-binding protein 3 (GATA-3). Therefore, its role in the T-cell lymphomas was examined. GATA-3 expression was observed in 45% of PTCLs, not otherwise specified (PTCL, NOS) and was associated with distinct molecular features, including the production of Th2-associated cytokines. In addition, GATA-3 expression identified a subset of PTCL, NOS with distinct clinical features, including inferior progression-free and overall survival. Collectively, these data suggest that further understanding the cell of origin and lymphocyte ontogeny among the T-cell lymphomas may improve our understanding of the tumor microenvironment’s pathogenic role in these aggressive lymphomas. PMID:24497534

  4. GATA-3 expression identifies a high-risk subset of PTCL, NOS with distinct molecular and clinical features.

    PubMed

    Wang, Tianjiao; Feldman, Andrew L; Wada, David A; Lu, Ye; Polk, Avery; Briski, Robert; Ristow, Kay; Habermann, Thomas M; Thomas, Dafydd; Ziesmer, Steven C; Wellik, Linda E; Lanigan, Thomas M; Witzig, Thomas E; Pittelkow, Mark R; Bailey, Nathanael G; Hristov, Alexandra C; Lim, Megan S; Ansell, Stephen M; Wilcox, Ryan A

    2014-05-01

    The cell of origin and the tumor microenvironment's role remain elusive for the most common peripheral T-cell lymphomas (PTCLs). As macrophages promote the growth and survival of malignant T cells and are abundant constituents of the tumor microenvironment, their functional polarization was examined in T-cell lymphoproliferative disorders. Cytokines that are abundant within the tumor microenvironment, particularly interleukin (IL)-10, were observed to promote alternative macrophage polarization. Macrophage polarization was signal transducer and activator of transcription 3 dependent and was impaired by the Janus kinase inhibitor ruxolitinib. In conventional T cells, the production of T helper (Th)2-associated cytokines and IL-10, both of which promote alternative macrophage polarization, is regulated by the T-cell transcription factor GATA-binding protein 3 (GATA-3). Therefore, its role in the T-cell lymphomas was examined. GATA-3 expression was observed in 45% of PTCLs, not otherwise specified (PTCL, NOS) and was associated with distinct molecular features, including the production of Th2-associated cytokines. In addition, GATA-3 expression identified a subset of PTCL, NOS with distinct clinical features, including inferior progression-free and overall survival. Collectively, these data suggest that further understanding the cell of origin and lymphocyte ontogeny among the T-cell lymphomas may improve our understanding of the tumor microenvironment's pathogenic role in these aggressive lymphomas. PMID:24497534

  5. Hepatitis C Associated B-cell Non-Hodgkin Lymphoma: Clinical Features and the Role of Antiviral Therapy

    PubMed Central

    Tasleem, Syed; Sood, Gagan K

    2015-01-01

    The link between chronic hepatitis C virus (HCV) infection and a subset of B-cell non-Hodgkin lymphomas (B-NHL) is strongly supported by epidemiological studies. Evidence demonstrating complete regression of lymphoma after antiviral treatments suggests possible chronic antigenic stimulation for the origin of B-NHL and provides evidence for a virus-mediated lymphomagenesis. B-NHL is a heterogeneous group of lymphomas with varied clinical presentation and may be indolent or aggressive. The optimal management of HCV related B-NHL is not clear. Antiviral treatment may be sufficient for low-grade lymphomas, but chemotherapy is necessary in patients with high grade lymphomas. Interferon (IFN)-based antiviral treatment regimens for HCV infection are limited by poor tolerance and suboptimal antiviral response. Recently approved novel direct acting antiviral (DAA) drugs are highly effective and safe. This has opened a new era for the treatment of HCV related B-NHL alone or in conjunction with chemotherapy. Treatment of HCV associated B-NHL should be performed in an interdisciplinary approach in close consultation with hematologist and hepatologist. In this review, we summarize data regarding clinical features and epidemiology of B-NHL and discuss novel therapeutic approaches, including DAAs, that may prove to be effective in the treatment of HCV associated lymphomas. PMID:26357640

  6. Comparison of clinical features and hematologic abnormalities between dengue fever and dengue hemorrhagic fever among children in the Philippines.

    PubMed

    Carlos, Celia C; Oishi, Kazunori; Cinco, Maria T D D; Mapua, Cynthia A; Inoue, Shingo; Cruz, Deu John M; Pancho, Mary Ann M; Tanig, Carol Z; Matias, Ronald R; Morita, Kouichi; Natividad, Filipinas F; Igarashi, Akira; Nagatake, Tsuyoshi

    2005-08-01

    To demonstrate the differences of clinical features and hematologic abnormalities between dengue fever (DF) and dengue hemorrhagic fever (DHF), 359 pediatric patients admitted St. Luke's Medical Center in Quezon City, between 1999 and 2001 in Metro Manila, and adjoining provinces the Philippines, with a laboratory-confirmed dengue virus infection were evaluated. One third of the patients had DHF, and most of these patients were without shock. Restlessness, epistaxis, and abdominal pain were more associated with DHF. The platelet count was significantly lower in the DHF group than in the DF group before and after defervescence. In the DHF patients, the hematocrit was significantly increased before defervescence, and decreased the day after due to administration of intravenous fluid. Coagulation abnormalities associated with most DHF patients were thrombocytopenia and an increased fibrinolysis, but not disseminated intravascular coagulation. We present recent data on readily obtained clinical and laboratory data that can be used for early diagnosis and consequently earlier appropriate treatment of dengue virus infections. PMID:16103617

  7. Isolation of Brucella ceti from a Long-finned Pilot Whale (Globicephala melas) and a Sowerby's Beaked Whale (Mesoploden bidens).

    PubMed

    Foster, Geoffrey; Whatmore, Adrian M; Dagleish, Mark P; Baily, Johanna L; Deaville, Rob; Davison, Nicholas J; Koylass, Mark S; Perrett, Lorraine L; Stubberfield, Emma J; Reid, Robert J; Brownlow, Andrew C

    2015-10-01

    Brucella ceti is an emerging zoonotic pathogen that has been recovered from several species of cetaceans in the world's oceans over the past 20 yr. We report the recovery of B. ceti from a Sowerby's beaked whale (Mesoploden bidens) and a long-finned pilot whale (Globicehala melas). Recovery from the testis of a long-finned pilot whale provides further evidence of potential for B. ceti infection to impact the reproductive success of cetaceans, many of which are threatened species. The addition of another two cetacean species to the growing number from which B. ceti has been recovered also further emphasizes the concern for human infections with this organism. PMID:26285099

  8. First report of Brucella ceti-associated meningoencephalitis in a long-finned pilot whale Globicephala melas.

    PubMed

    Davison, Nicholas J; Brownlow, Andrew; McGovern, Barry; Dagleish, Mark P; Perrett, Lorraine L; Dale, Emma-Jane; Koylass, Mark; Foster, Geoffrey

    2015-10-27

    Fatal Brucella ceti infection with histological lesions specific to the central nervous system has been described in only 3 species of cetaceans: striped dolphins Stenella coeruleoalba, Atlantic white-sided dolphins Lagenorhynchus acutus and short-beaked common dolphins Delphinus delphis. This paper describes the first report of a B. ceti-associated meningoencephalitis in a long-finned pilot whale Globicephala melas, showing the increasing range of species susceptibility. Brucella was recovered in larger numbers from cerebrospinal fluid than from brain tissue and is the sample of choice for isolation. PMID:26503778

  9. Clinical features of X linked juvenile retinoschisis in Chinese families associated with novel mutations in the RS1 gene

    PubMed Central

    Ma, Xiang; Tao, Yong

    2007-01-01

    Purpose To describe the clinical phenotype of X linked juvenile retinoschisis (XLRS) in 12 Chinese families with 11 different mutations in the XLRS1 (RS1) gene. Methods Complete ophthalmic examinations were carried out in 29 affected males (12 probands), 38 heterozygous females carriers, and 100 controls. The coding regions of the RS1 gene that encodes retinoschisin were amplified by polymerase chain reaction and directly sequenced. Results Of the 29 male participants, 28 (96.6%) displayed typical foveal schisis. Eleven different RS1 mutations were identified in 12 families; four of these mutations, two frameshift mutations (26 del T of exon 1 and 488 del G of exon 5), and two missense mutations (Asp145His and Arg156Gly) of exon 5, had not been previously described. One non-disease-related polymorphism (NSP): 576C to T (Pro192Pro) change was also newly reported herein. We compared genotypes and observed more severe clinical features in families with the following mutations: frameshift mutation (26 del T) of exon 1, the splice donor site mutation (IVS1+2T to C),or Arg102Gln, Arg209His, and Arg213Gln mutations. Conclusions Severe XLRS phenotypes are associated with the frameshift mutation 26 del T, splice donor site mutation (IVS1+2T to C), and Arg102Gln, Asp145His, Arg209His, and Arg213Gln mutations. The wide variability in the phenotype in Chinese patients with XLRS and different mutations in the RS1 gene is described. Identification of mutations in the RS1 gene and expanded information on clinical manifestations will facilitate early diagnosis, appropriate early therapy, and genetic counseling regarding the prognosis of XLRS. PMID:17615541

  10. [Human African trypanosomiasis in the mangrove forest in Guinea: epidemiological and clinical features in two adjacent outbreak areas].

    PubMed

    Camara, M; Kaba, D; KagbaDouno, M; Sanon, J R; Ouendeno, F F; Solano, P

    2005-01-01

    The purpose of this study carried out in two adjacent areas of the coastal mangrove forest of Guinea (Dubreka and Boffa) was to screen the population for disease, provide information on human African trypanosomiasis (HAT, a.k.a. sleeping sickness) and compare the epidemiologic and clinical features with those of outbreak areas in the Ivory Coast where more data is currently available. Cases of HAT were confirmed by parasitological testing after active medical work-up (91 of 9637 patients examined). Five cases were confirmed in patients in treatment centers. Of the first 57 cases admitted for treatment in the Dubreka and Boffa centers, 29 were responded to a clinical and epidemiological questionnaire and underwent thorough clinical examination. Disease stage was determined by cytochemical testing of cerebrospinal fluid. As in outbreak areas of the Ivory Coast, sleeping sickness in Dubreka and Boffa is a rural disease mainly affecting the working population. Most cases identified in Guinea involved men and women working in farming, fishing, or salt extraction. However unlike Ivory Coast outbreak areas where ethnic diversity related to share cropping is considered to play a major role in maintaining endemicity, almost all patients in our study (98%) were from the native Soussou population that is self employed and lives in villages with no immigrant population. While clinical symptoms observed in these patients were not different from those reported elsewhere, there was a high frequency of cervical adenopathy (93%). This finding could provide a useful diagnostic sign for screening populations living in these mangrove forest regions and as a source for parasitological diagnosis as shown by the fact that 88.5% of patients were screened on the basis of lymph node fluid specimens. Most patients including among those identified by active work-up (5%) were in the meningo-encephalitis phase of the disease (98%). The findings of this study underline the need not only to continue surveillance in these regions but also to extend surveillance throughout the country as a means of avoiding recrudescence and extension of the disease. PMID:16038356

  11. Clinical and pathological features of kidney transplant patients with concurrent polyomavirus nephropathy and rejection-associated endarteritis

    PubMed Central

    McGregor, Stephanie M; Chon, W James; Kim, Lisa; Chang, Anthony; Meehan, Shane M

    2015-01-01

    AIM: To describe the clinicopathologic features of concurrent polyomavirus nephropathy (PVN) and endarteritis due to rejection in renal allografts. METHODS: We searched our electronic records database for cases with transplant kidney biopsies demonstrating features of both PVN and acute rejection (AR). PVN was defined by the presence of typical viral cytopathic effect on routine sections and positive polyomavirus SV40 large-T antigen immunohistochemistry. AR was identified by endarteritis (v1 by Banff criteria). All cases were subjected to chart review in order to determine clinical presentation, treatment course and outcomes. Outcomes were recorded with a length of follow-up of at least one year or time to nephrectomy. RESULTS: Of 94 renal allograft recipients who developed PVN over an 11-year period at our institution, we identified 7 (7.4%) with viral cytopathic changes, SV40 large T antigen staining, and endarteritis in the same biopsy specimen, indicative of concurrent PVN and AR. Four arose after reduction of immunosuppression (IS) (for treatment of PVN in 3 and tuberculosis in 1), and 3 patients had no decrease of IS before developing simultaneous concurrent disease. Treatment consisted of reduced oral IS and leflunomide for PVN, and anti-rejection therapy. Three of 4 patients who developed endarteritis in the setting of reduced IS lost their grafts to rejection. All 3 patients with simultaneous PVN and endarteritis cleared viremia and were stable at 1 year of follow up. Patients with endarteritis and PVN arising in a background of reduced IS had more severe rejection and poorer outcome. CONCLUSION: Concurrent PVN and endarteritis may be more frequent than is currently appreciated and may occur with or without prior reduction of IS. PMID:26722657

  12. A single institutional experience of thymic epithelial tumours over 11 years: clinical features and outcome and implications for future management

    PubMed Central

    Lee, H-S; Kim, S T; Lee, J; Choi, Y S; Han, J-H; Ahn, Y-C; Lee, K-S; Ahn, J S; Ahn, M J; Kim, K; Shim, Y M; Kim, J; Park, K

    2007-01-01

    Thymic epithelial tumours (TETs), the most common tumour of the anterior mediastinum, are epithelial neoplasms of the thymus with a wide spectrum of morphologic features. We retrospectively analysed clinical features of TET and the correlation of World Health Organisation (WHO) histologic classification and Masaoka staging system with different treatment modalities in 195 patients, from 1995 to 2005. According to the Masaoka's staging system, there were 78 (40.0 %) patients with stage I, 38 (19.5%) with stage II, 41 (21.0%) with stage III, 38 (19.5%) with stage IV. All patients were reclassified according to the WHO criteria as follows: Type A (n=9, 4.6%), AB (n=37, 18.9%), B1 (n=29, 14.8%), B2 (n=48, 24.6%), B3 (n=40, 20.5%), C (n=32, 16.4%). There was a fairly good correlation between Masaoka staging and WHO histotype (P<0.05). However, in multivariate analysis, the tumour stage and WHO histotype were two independent factors separately for predicting overall survival (P<0.001, P<0.001, respectively). Thus, both Masaoka stage and WHO histotype should be considered in risk stratification of therapy for TET patients. Patients with completely resected types B2, B3 and C and adjuvant radiotherapy (n=57) had more favourable disease-free and overall survival as compared with those without adjuvant treatment (n=20) (P=0.015, 0.015, respectively). Given that the predominant sites of recurrence after surgery was pleura/pericardium and lung, and the fact that complete resection was a significant influential factor for survival at log–rank test, an active investigation of newer treatment strategies such as neoadjuvant treatment to improve the resectability and development of optimal adjuvant treatment modality is a high priority especially for those with high-risk for recurrence or in patients with advanced stage disease. PMID:17592498

  13. Secondary Sclerosing Cholangitis in Critically Ill Patients: Clinical Presentation, Cholangiographic Features, Natural History, and Outcome: A Series of 16 Cases.

    PubMed

    Leonhardt, Silke; Veltzke-Schlieker, Wilfried; Adler, Andreas; Schott, Eckart; Eurich, Dennis; Faber, Wladimir; Neuhaus, Peter; Seehofer, Daniel

    2015-12-01

    Secondary sclerosing cholangitis in critically ill patients (SSC-CIP) is an important differential diagnosis in patients presenting with cholestasis and PSC-like cholangiographic changes in endoscopic retrograde cholangiography (ERC). As a relatively newly described entity, SSC-CIP is still underdiagnosed, and the diagnosis is often delayed. The present study aims to improve the early detection of SSC-CIP and the identification of its complications.A total of 2633 records of patients who underwent or were listed for orthotopic liver transplantation at the University Hospital Charité, Berlin, were analyzed retrospectively. The clinical presentation and outcome (mean follow-up 62.7 months) of the 16 identified SSC-CIP cases were reviewed.Cholestasis was the first sign of SSC-CIP. GGT was the predominant enzyme of cholestasis. Hypercholesterolemia occurred in at least 75% of the patients. SSC-CIP provoked a profound weight loss (mean 18?kg) in 94% of our patients. SSC-CIP was diagnosed by ERC in all patients. The 3 different cholangiographic features detected correspond roughly to the following stages: (I) evidence of biliary casts, (II) progressive destruction of intrahepatic bile ducts, and (III) picture of pruned tree. Biliary cast formation is a hallmark of SSC-CIP and was seen in 87% of our cases. In 75% of the patients, the clinical course was complicated by cholangiosepsis, cholangitic liver abscesses, acalculous cholecystitis, or gallbladder perforation. SSC-CIP was associated with worse prognosis; transplant-free survival was ?40 months (mean).Because of its high rate of serious complications and unfavorable prognosis, it is imperative to diagnose SSC-CIP early and to differentiate SSC-CIP from other types of sclerosing cholangitis. Specific characteristics enable identification of SSC-CIP. Early cooperation with a transplant center and special attention to biliary complications are required after diagnosis of SSC-CIP. PMID:26656347

  14. Clinical, pathological and genetic features of primary mediastinal large B-cell lymphomas and mediastinal gray zone lymphomas in children

    PubMed Central

    Oschlies, Ilske; Burkhardt, Birgit; Salaverria, Itziar; Rosenwald, Andreas; d’Amore, Emanuele S.G.; Szczepanowski, Monika; Koch, Karoline; Hansmann, Martin L.; Stein, Harald; Möller, Peter; Reiter, Alfred; Zimmermann, Martin; Rosolen, Angelo; Siebert, Reiner; Jaffe, Elaine S.; Klapper, Wolfram

    2011-01-01

    Background Primary mediastinal large B-cell lymphoma is a rare lymphoma accounting for no more than 3% of all B-cell lymphomas in children and adolescents. However, patients in this young age group with this lymphoma have the shortest event-free survival of patients with any B-cell lymphoma under current standard chemotherapy protocols. Lymphomas with features intermediate between primary mediastinal large B-cell lymphoma and classical Hodgkin’s lymphoma (mediastinal gray zone lymphomas) have been acknowledged in the latest World Health Organization classification. Recent studies suggest that mediastinal gray zone lymphomas have an aggressive clinical course whereas patients, at least adult ones, with primary mediastinal large B-cell lymphoma might respond very well to chemotherapy in combination with anti-CD20 antibody. Design and Methods We aimed to evaluate whether biological differences or so far unrecognized admixed mediastinal gray zone lymphomas might explain the relatively poor outcome of pediatric patients with apparent primary mediastinal large B-cell lymphoma. We, therefore, performed a retrospective histopathological, immunohistochemical and interphase cytogenetic analysis of 52 pediatric lymphomas. Results The childhood primary mediastinal large B-cell lymphomas (n=44) showed a similar pattern of histology, immunophenotype and gains at 9p (59%) and 2p (41%) as adult cases, as determined from published data. We identified only four so far unrecognized cases of mediastinal gray zone lymphoma among 52 lymphomas registered in previous trials. Conclusions Mediastinal gray zone lymphoma is very rare in children and adolescents. It does, therefore, seem unlikely that these lymphomas account for the unsatisfactory clinical results with current therapy protocols in pediatric patients. These data have major implications for the design of future treatment protocols for mediastinal lymphomas in children and adolescents. PMID:20971819

  15. Clinical Features and Computed Tomography Characteristics of Non-Klebsiella pneumoniae Liver Abscesses in Elderly (>65 Years) and Nonelderly Patients

    PubMed Central

    Hsiang, Chih-Weim; Liu, Chang-Hsien; Fan, Hsiu-Lung; Ko, Kai-Hsiung; Yu, Chih-Yung; Wang, Hong-Hau; Liao, Wen-I; Hsu, Hsian-He

    2015-01-01

    Purpose To compare the clinical and computed tomography (CT) appearances of liver abscesses caused by non-Klebsiella pneumoniae bacterial pathogens in elderly and nonelderly patients. Materials and Methods Eighty patients with confirmed non-Klebsiella pneumoniae liver abscesses (non-KPLAs) were enrolled and divided into two age groups: elderly (age ?65 years, n=42) and nonelderly (age <65 years, n=38). Diagnosis of non-KPLA was established by pus and/or blood culture. We compared clinical presentations, outcomes, and CT characteristics of the two groups, and performed multivariate analysis for significant variables and receiver-operating-characteristic analysis to determine the cutoff value of abscess diameter for predicting non-KPLA. Results Elderly patients with non-KPLA were associated with a longer hospital stay (p<0.01). Regarding etiology, biliary sources had a strong association in the elderly group (p<0.01), and chronic liver diseases were related to the nonelderly group (p<0.01). Non-KPLAs (52.5%) tended to show a large, multiloculated appearance in the elderly group and were associated with bile duct dilatation (p<0.01), compared with the nonelderly group. The abscess diameter (cutoff value, 5.2 cm; area under the curve, 0.78) between the two groups was predicted. In multivariate analysis, underlying biliary tract disease [odds ratio (OR), 3.58, p<0.05], abscess diameter (OR, 2.40, p<0.05), and multiloculated abscess (OR, 1.19, p<0.01) independently predicted elderly patients with non-KPLA. Conclusion In the elderly patients with non-KPLA, a large, multiloculated abscess with a diameter greater than 5.2 cm was the predominant imaging feature. PMID:25684004

  16. Intrahepatic Cholestasis of Pregnancy (ICP) in U.S. Latinas and Chileans: Clinical features, Ancestry Analysis, and Admixture Mapping

    PubMed Central

    Bull, Laura N.; Hu, Donglei; Shah, Sohela; Temple, Luisa; Silva, Karla; Huntsman, Scott; Melgar, Jennifer; Geiser, Mary T.; Sanford, Ukina; Ortiz, Juan A.; Lee, Richard H.; Kusanovic, Juan P.

    2015-01-01

    In the Americas, women with Indigenous American ancestry are at increased risk of intrahepatic cholestasis of pregnancy (ICP), relative to women of other ethnicities. We hypothesized that ancestry-related genetic factors contribute to this increased risk. We collected clinical and laboratory data, and performed biochemical assays on samples from U.S. Latinas and Chilean women, with and without ICP. The study sample included 198 women with ICP (90 from California, U.S., and 108 from Chile) and 174 pregnant control women (69 from California, U.S., and 105 from Chile). SNP genotyping was performed using Affymetrix arrays. We compared overall genetic ancestry between cases and controls, and used a genome-wide admixture mapping approach to screen for ICP susceptibility loci. We identified commonalities and differences in features of ICP between the 2 countries and determined that cases had a greater proportion of Indigenous American ancestry than did controls (p = 0.034). We performed admixture mapping, taking country of origin into account, and identified one locus for which Native American ancestry was associated with increased risk of ICP at a genome-wide level of significance (P = 3.1 x 10-5, Pcorrected = 0.035). This locus has an odds ratio of 4.48 (95% CI: 2.21-9.06) for 2 versus zero Indigenous American chromosomes. This locus lies on chromosome 2, with a 10 Mb 95% confidence interval which does not contain any previously identified hereditary ‘cholestasis genes.’ Our results indicate that genetic factors contribute to the risk of developing ICP in the Americas, and support the utility of clinical and genetic studies of ethnically mixed populations for increasing our understanding of ICP. PMID:26126184

  17. Effect of Treatment with Metformin on Omentin-1, Ghrelin and other Biochemical, Clinical Features in PCOS Patients

    PubMed Central

    Shaker, Mahmud; Mashhadani, Zohair I. AL; Mehdi, Atheer A.

    2010-01-01

    Objectives Polycystic ovary syndrome is associated with insulin resistance and obesity. Previous studies suggest that metformin by reducing hyperinsulinemia is clinically useful in the treatment of polycystic ovary syndrome. This study’s Objective is to observe the role of metformin in omentin1, ghrelin, and other biochemical, clinical features within three months in hyperinsulinemic women with polycystic ovary syndrome. Another aim is to assess the decrease in hyperinsulinemia and body weight by metformin in the population. Methods This study was carried out at the Kamal AL-Samarai Hospital between June 2007 and March 2008. 60 women fulfilling the clinical and biochemical criteria for polycystic ovary syndrome and hyperinsulinemia were enrolled. Metformin was started at an oral dose of 850 mg/day for 3 months. Besides Body Mass Index (BMI), Waist Hip Ratio (WHR), serum omentin1, ghrelin, fasting insulin, fasting blood sugar and lipid profile levels were performed. After three months, all these parameters were assessed. Omentin1, ghrelin and insulin were measured by enzyme-linked immunosorbent assay, fasting blood glucose and lipid profile were measured by colorimetric methods. Results Mean Body Mass Index and Waist Hip Ratio had significantly decreased in the 60 polycystic ovary syndrome patients after three months of Metformin therapy. Serum levels of omentin1, ghrelin and HDL-cholesterol were increased while the total cholesterol/HDL cholesterol ratio was decreased significantly. Serum concentrations of insulin, Homeostatic Model Assessment (HOMA) and HOMA ß-cell % were also decreased significantly, the present study showed a significant increase in omentin1: insulin ratio, omentin1: HOMA ratio and omentin1: HOMA ß-cell% ratio. Conclusion There was a significant an increase in omentin1: insulin ratio, omentin1: HOMA ratio and omentin1: HOMA ß-cell% ratio. These results in the present study are shown the first time, these factors may be useful in following improvements in insulin sensitivity in subjects with polycystic ovary syndrome or obesity treated with insulin sensitizers. Further studies are needed to certify these factors in other populations with these treatment or with other insulin sensitizers or when treated with diet and exercise. PMID:22043360

  18. Clinical and Laboratory Features of Six Cases of Candida and Dermatophyte Folliculitis and a Review of Published Studies.

    PubMed

    Durdu, Murat; Güran, Mümtaz; Kandemir, Hazal; Ilkit, Macit; Seyedmousavi, Seyedmojtaba

    2016-02-01

    Although some studies have investigated the epidemiological characteristics of Malassezia folliculitis (MF), little is known about the clinical features and laboratory characteristics of folliculitis caused by other fungi. In this prospective study, 158 patients with folliculitis were identified, and cytological and mycological examinations were performed. The positive fungal cultures were confirmed using conventional methods, ITS sequencing and HWP1 analysis. Additionally, an in vitro antifungal susceptibility test was performed. Of 158 patients with folliculitis, 65 (41.1 %) were found to have fungal folliculitis. The most common (90.8 %) fungal folliculitis was MF. Non-MF fungal folliculitis was detected in 6 (9.2 %) patients. Four patients were diagnosed with dermatophytic folliculitis (Trichophyton rubrum in three patients and Arthroderma vanbreuseghemii in one patient), and two patients were diagnosed with Candida albicans folliculitis. Although only 5 of the 6 samples were found to be positive via a potassium hydroxide test, all May-Grünwald-Giemsa-stained samples were positive. Both of the C. albicans isolates demonstrated a susceptibility profile to itraconazole, and all four dermatophytes were susceptible to terbinafine. All six patients completely recovered with systemic and topical treatment. This study revealed that dermatophytes and C. albicans are the primary causative agents of non-Malassezia fungal folliculitis. We compared our findings with published reports on fungal folliculitis. PMID:26337525

  19. IgD multiple myeloma: Clinical, biological features and prognostic value of the serum free light chain assay.

    PubMed

    Djidjik, R; Lounici, Y; Chergeulaïne, K; Berkouk, Y; Mouhoub, S; Chaib, S; Belhani, M; Ghaffor, M

    2015-09-01

    IgD multiple myeloma (MM) is a rare subtype of myeloma, it affects less than 2% of patients with MM. To evaluate the clinical and prognostic attributes of serum free light chains (sFLCs) analysis, we examined 17 cases of IgD MM. From 1998 to 2012, we obtained 1250 monoclonal gammapathies including 590 multiple myeloma and 17 patients had IgD MM. With preponderance of men patients with a mean age at diagnosis of: 59±12years. Patients with IgD MM have a short survival (Median survival=9months). The presenting features included: bone pain (75%), lymphadenopathy (16%), hepatomegaly (25%), splenomegaly (8%), associated AL amyloidosis (6%), renal impairment function (82%), infections (47%), hypercalcemia (37%) and anemia (93%). Serum electrophoresis showed a subtle M-spike (Mean=13.22±10g/L) in all patients associated to a hypogammaglobulinemia. There was an over-representation of Lambda light chain (65%); high serum ?2-microglobulin in 91% and Bence Jones proteinuria was identified in 71%. The median rate of sFLCs ? was 19.05mg/L and 296.75mg/L for sFLCs ?. sFLCR was abnormal in 93% of patients and it showed concordance between baseline sFLCR and the survival (P=0.034). The contribution of FLC assay is crucial for the prognosis of patients with IgD MM. PMID:26294067

  20. Serum immunoglobulin free light-chain measurement in primary amyloidosis: prognostic value and correlations with clinical features

    PubMed Central

    Dispenzieri, Angela; Katzmann, Jerry A.; Larson, Dirk R.; Colby, Colin L.; Lacy, Martha Q.; Hayman, Suzanne R.; Buadi, Francis K.; Leung, Nelson; Zeldenrust, Steve R.; Ramirez-Alvarado, Marina; Clark, Raynell J.; Kyle, Robert A.; Rajkumar, S. Vincent; Gertz, Morie A.

    2010-01-01

    Immunoglobulin free light chains (FLCs) are the precursors of amyloid fibrils in primary amyloidosis (AL). We studied the relationship between FLC levels and clinical features in 730 patients with newly diagnosed AL. The plasma cell clone was ? in 72% patients, and ? in 28% patients. ?-AL had more GI tract and liver involvement, where as renal involvement was more with ?-AL. While the overall survival (OS) was similar for ? and ?-AL, the median OS for those without an identifiable serum heavy chain was significantly shorter (12.6 vs 29.9 months; P = .02). The OS was shorter among those with a higher dFLC (involved FLC?uninvolved FLC; ? > 29.4 mg/dL or ? > 18.2 mg/dL using median for cutoff); 10.9 vs 37.1 months; P < .001. In multivariate analysis, dFLC was independent of other prognostic factors. The type of light chain impacts the spectrum of organ involvement and the FLC burden correlates with survival in AL. PMID:20798235

  1. A new Turkish infant with clinical features of CS/CISS1 syndrome and homozygous CRLF1 mutation.

    PubMed

    Moortgat, Stephanie; Benoit, Valerie; Deprez, Marie; Charon, Anne; Maystadt, Isabelle

    2014-04-01

    Cold-induced sweating syndrome (CISS) is a rare autosomal recessive disorder characterized by profuse sweating at cold environmental temperatures, facial dysmorphism and skeletal features. The infantile presentation of CISS, referred to as Crisponi syndrome (CS), is characterized by facial muscular contractures in response to slight tactile stimuli or during crying, by life-threatening feeding difficulties caused by suck and swallow inabilities, and by intermittent hyperthermia. High febrile crises can lead to death within the first months of life. In preadolescence, surviving patients develop kyphoscoliosis and abnormal sweating. CISS is a genetically heterogeneous disorder caused by mutations in CRLF1 in more than 90 percent of patients (CISS1) and by mutations in CLCF1 in the remaining patients (CISS2). It is now well demonstrated that all patients with an infantile-onset CS will develop CISS, confirming that CS and CISS are not "allelic disorders" but the same clinical entity described at different ages of affected patients. Here we report on a Turkish patient with a phenotype consistent with CS/CISS1 and a nonsense homozygous mutation (c.829C>T, p.R277X) in the CRLF1 gene. This mutation has already been reported in another Turkish patient with CS/CISS1. PMID:24613578

  2. Clinical Features and Outcomes of Endoscopic Treatment for Stones in Stemware-Shaped Common Bile Ducts: A Multicenter Data Analysis

    PubMed Central

    Han, Jee Young; Lee, Don Haeng; Jeong, Seok; Choi, Hyun Jong; Moon, Jong Ho; Han, Joung-Ho; Kwon, Chang-Il; Lee, Tae Hoon; Hyun, Jong Jin; Hwang, Jae Chul; Koh, Dong Hee

    2015-01-01

    Background/Aims Various anatomical features of the biliary tree affect ability to remove difficult common bile duct (CBD) stones. In this study, we evaluated the clinical characteristics and outcomes of the endoscopic treatment of stones in stemware-shaped CBDs. Methods Thirty-four patients with a stone and a stemware-shaped CBD who were treated at different tertiary referral centers from January 2008 to December 2012 were studied retrospectively. When stone removal failed, percutaneous or direct peroral cholangioscopic lithotripsy, endoscopic retrograde biliary drainage, or surgery was performed as a second-line procedure. Results The overall success rate of the first-line procedure was 41.2%. Five of the 34 patients (14.7%) experienced procedure-related complications. No procedure-related mortality occurred. Mechanical lithotripsy was required to completely remove stones in 13 patients (38.2%). Conversion to a second-line procedure was required in 20 patients (58.8%). Mechanical lithotripsy was needed in 75% and 66.7% of those with a stone size of <1 cm or ?1 cm, respectively. Stone recurrence occurred in two patients (9.1%) after 6 months and 27 months, respectively. Conclusions The endoscopic treatment of stones in a stemware-shaped CBD is challenging. The careful assessment of difficult CBD stones is required before endoscopic procedures. PMID:26087795

  3. SOCS3 Genetic Polymorphism Is Associated With Clinical Features and Prognosis of Hepatocellular Carcinoma Patients Receiving Hepatectomy

    PubMed Central

    Jiang, Bei-ge; Yang, Yuan; Liu, Hui; Gu, Fang-ming; Yang, Yun; Zhao, Lin-Hao; Yuan, Sheng-xian; Wang, Ruo-yu; Zhang, Jin; Zhou, Wei-ping

    2015-01-01

    Abstract Previous studies showed that suppressor of cytokine signaling 3 (SOCS3) protein is associated with incidence and progression of hepatocellular carcinoma (HCC); however, the association between the genetic polymorphism of SOCS3 gene and HCC remains unknown. A total of 254 HCC patients and 354 healthy controls were enrolled. All HCC patients underwent partial hepatectomy as initial treatment and were followed. Three SOCS3 gene polymorphisms, namely, rs4969170 A>G, rs8064821 C>T, and rs12953258 C>A were determined. Our data show that the rs4969170 A>G polymorphism dramatically affects the susceptibility to HCC in our cohorts. Logistic regression analyses revealed that the rs4969170 GG is a risk factor for HCC after the adjustment with confounding factors. The rs4969170A>G polymorphism is also associated with the clinical features of HCC patients and predicts the postoperative relapse-free survival and overall survival. The rs4969170GG genotype carrier had a worse prognosis than the rs4969170AG and rs4969170AA carrier. Our findings suggest that the rs4969170A>G polymorphism of SOCS3 gene may be used as a prognostic predictor for HCC patients who underwent surgical treatment. PMID:26447993

  4. Mutation spectrum of RB1 gene in unilateral retinoblastoma cases from Tunisia and correlations with clinical features.

    PubMed

    Ayari-Jeridi, Hajer; Moran, Kimberly; Chebbi, Amel; Bouguila, Hédi; Abbes, Imen; Charradi, Khaoula; Benammar-Elgaaïed, Amel; Ganguly, Arupa

    2015-01-01

    Retinoblastoma, an embryonic neoplasm of retinal origin, is the most common primary intraocular malignancy in children. Somatic inactivation of both alleles of the RB1 tumor suppressor gene in a retinal progenitor cell through diverse mechanisms including genetic and epigenetic modifications, is the crucial event in initiation of tumorigenesis in most cases of isolated unilateral retinoblastoma. We analyzed DNA from tumor tissue and from peripheral blood to determine the RB1 mutation status and seek correlations with clinical features of 37 unrelated cases of Tunisian origin with sporadic retinoblastoma. All cases were unilateral except one who presented with bilateral disease, in whom no germline coding sequence alteration was identified. A multi-step mutation scanning protocol identified bi-allelic inactivation of RB1 gene in 30 (81%) of the samples tested. A total of 7 novel mutations were identified. There were three tumors without any detectable mutation while a subset contained multiple mutations in RB1 gene. The latter group included tumors collected after treatment with chemotherapy. There were seven individuals with germline mutations and all presented with advanced stage of tumor. There was no difference in age of onset of RB based on the germline mutation status. Thus 20% of the individuals with sporadic unilateral RB in this series carried germline mutations and indicate the importance of genetic testing all children with sporadic retinoblastoma. These findings help to characterize the spectrum of mutations present in the Tunisian population and can improve genetic diagnosis of retinoblastoma. PMID:25602518

  5. Prevalence and clinical features of Thought-Perception-Sensitivity Symptoms: results from a community survey of Korean high school students.

    PubMed

    Kang, Nam-In; Park, Tae-Won; Yang, Jong-Chul; Oh, Keun-Young; Shim, Shi-Ha; Chung, Young-Chul

    2012-08-15

    Epidemiologic research indicates that psychosis and depression most frequently develop during adolescence. Hence, an efficient strategy for improving youth mental health would be to focus on detection of early-stage psychosis and depression in adolescence. In this study, 1461 high school students were surveyed using self-report scales. Students who scored equal to or above the cut-off value on any of the scales and who agreed to a further examination proceeded to a second assessment, using the Kiddie Schedule for Affective Disorders and Schizophrenia and Comprehensive Assessment of At-Risk Mental States along with self-reporting scales. The estimated prevalence of adolescents at ultra-high risk (UHR) for psychosis and of depression-spectrum disorders was 1.26 and 3.69% respectively. Compared with the normal group, experiences of bullying, suicidal ideation, and suicide attempts were significantly higher in these two groups; the subjects at UHR for psychosis were found to have significantly lower academic performance and lower ratings on SCRS; and submissive behavior was more prevalent in the depression-spectrum group. Our results reveal several clinical features of adolescents at UHR for psychosis and with depression-spectrum disorder and underscore the importance of accurate assessment of and early appropriate care for these adolescents. PMID:22475525

  6. Clinical features, Outcomes and Molecular Profiles of Drug Resistance in Tuberculous Meningitis in non-HIV Patients.

    PubMed

    Zhang, Jingya; Hu, Xuejiao; Hu, Xin; Ye, Yuanxin; Shang, Mengqiao; An, Yunfei; Gou, Haimei; Zhao, Zhenzhen; Peng, Wu; Song, Xingbo; Zhou, Yanhong; Kang, Mei; Xie, Yi; Chen, Xuerong; Lu, Xiaojun; Ying, Binwu; Wang, Lanlan

    2016-01-01

    Tuberculous meningitis continues to be a serious problem for physicians because it is difficult to make an early diagnosis and the consequences of delaying treatment are severe. The objective of this study is to provide data for the optimization of diagnostic and timely treatment of tuberculous meningitis. Of the 401 human immunodeficiency virus (HIV)-negative tuberculous meningitis patients in our study, 332 were found to have an impaired blood brain barrier (82.8%). Nearly 17.0% of patients failed to be timely diagnosed. Headache (53.6%) and fever (48.6%) were the most common features, and Computed Tomography/Magnetic Resonance Imaging (CT/MRI) detected 96 patients (23.9%) with abnormal meningeal imaging. Cerebrospinal fluid real-time polymerase chain reaction was positive in 73.8% of the tuberculous meningitis patients, whereas, smears and cultures detected only 6.7% and 5.2%, respectively. Further analysis identified striking differences between drug-resistant and drug-susceptible tuberculous meningitis. Patients with drug resistance correlated with grave prognosis. Tuberculous meningitis diagnosis should overall embody clinical symptoms, laboratory and cerebral imaging findings, and more sensitive diagnostic approaches are still warranted. Our data suggest cerebrospinal fluid polymerase chain reaction for mycobacterial DNA and molecular drug susceptibility testing as routine assays for suspected tuberculous meningitis patients, and observation of the blood brain barrier function could be performed for individual management. PMID:26738994

  7. Semantic Paralexias: A Group-Case Study on the Underlying Functional Mechanisms, Incidence and Clinical Features in a Consecutive Series of 340 Italian Aphasics

    ERIC Educational Resources Information Center

    Ciaghi, Maddalena; Pancheri, Elisa; Miceli, Gabriele

    2010-01-01

    We studied the reading performance of 340 consecutive, Italian-speaking aphasics in order to evaluate the clinical features of deep dyslexia, the functional impairments underlying semantic paralexias, and their neuranatomical correlates. Semantic paralexias were observed in 9/340 subjects (2.4%). Our data and a review of the literature show that…

  8. Real-Time Extraction and Analysis of Key Morphological Features in the Electrocardiogram, for Data Compression and Clinical Decision Support

    E-print Network

    Gordhandas, Ankit

    Massive amounts of clinical data can now be collected by stand-alone or wearable monitors over extended periods of time. One key challenge is to convert the volumes of raw data into clinically relevant and actionable ...

  9. Clinical features and bacteriology of lacrimal canaliculitis in patients presenting to a tertiary eye care center in the Middle East

    PubMed Central

    Gogandy, Mohammed; Al-Sheikh, Osama; Chaudhry, Imtiaz

    2013-01-01

    Purpose To study the clinical features and bacteriology of canaliculitis in patients presenting to King Khaled Eye Specialist Hospital (KKESH), a major tertiary eye care center in the Middle East and compare the results to previous studies from other countries. Methods In this retrospective study, a chart review was performed of 131 patients (135 eyes) diagnosed with lacrimal canaliculitis who underwent treatment between January 1983 and December 2012 at KKESH. Data were evaluated on demographics, presenting signs and symptoms, diagnostic studies, causative organisms, treatment rendered including medical or surgical interventions and rate of recurrence. Results There were 47 males and 84 females with a mean age of 64 years. The average duration of symptoms was 81.38 weeks. The most common presenting symptom was eye discharge (68.7%). The lower canaliculus was most commonly involved (49.6%) and 27 (20.6%) patients had upper and lower canaliculi involved. The left eye was most commonly involved in 71 patients (54.2%). Microbiological studies were available for 101 (77.1%) patients. Streptococcus species (48.2%) were the most commonly cultured organisms. Concretions were noted in 45 (34.4%) patients. Canaliculotomy was performed in 33 (25.2%) patients. Topical Penicillin G was the most commonly used antibiotic (65.7%). Seventeen (13%) patients had a recurrence of canaliculitis. Conclusion Canaliculitis is frequently overlooked and misdiagnosed as conjunctivitis. Persistence or recurrence may complicate the condition. New organisms are emerging as the most common causative agents. Canaliculotomy with removal of all concretions is still considered the gold standard of treatment to eliminate the infection and improve patient symptoms. PMID:24526855

  10. Differences in clinical features between laparoscopy and open resection for primary tumor in patients with stage IV colorectal cancer

    PubMed Central

    Kim, Ik Yong; Kim, Bo Ra; Kim, Hyun Soo; Kim, Young Wan

    2015-01-01

    Purpose To identify differences in clinical features between laparoscopy and open resection for primary tumor in patients with stage IV colorectal cancer. We also evaluated short-term and oncologic outcomes after laparoscopy and open surgery. Methods A total of 100 consecutive stage IV patients undergoing open (n=61) or laparoscopic (n=39) major resection were analyzed. There were four cases (10%) of conversion to laparotomy in the laparoscopy group. Results Pathological T4 tumors (56% vs 26%), primary colon cancers (74% vs 51%), and larger tumor diameter (6 vs 5 cm) were more commonly managed with open surgery. Right colectomy was more common in the open surgery group (39%) and low anterior resection was more common in the laparoscopy group (39%, P=0.002). Hepatic metastases in segments II, III, IVb, V, and VI were more frequently resected with laparoscopy (100%) than with open surgery (56%), although the difference was not statistically significant. In colon and rectal cancers, mean operative time and 30-day complication rates of laparoscopy and open surgery did not differ. In both cancers, mean time to soft diet and length of hospital stay were shorter in the laparoscopy group. Mean time from surgery to chemotherapy commencement was significantly shorter with laparoscopy than with open surgery. In colon and rectal cancers, 2-year cancer-specific and progression-free survival rates were similar between the laparoscopy and open surgery groups. Conclusion Based on our findings, laparoscopy can be selected as an initial approach in patients with a primary tumor without adjacent organ invasion and patients without primary tumor-related symptoms. In selected stage IV patients, tumor factors such as primary rectal tumor, peritoneal carcinomatosis, or liver metastasis may not be absolute contraindications for a laparoscopic approach.

  11. Clinical features of ischemic hepatitis caused by shock with four different types: a retrospective study of 328 cases

    PubMed Central

    Guo, Gang; Wu, Xian-Zheng; Su, Li-Jie; Yang, Chang-Qing

    2015-01-01

    The aim of the study was to investigate the clinical features of ischemic hepatitis due to shock with four different types (allergic shock, hypovolemic shock, septic shock, and cardiogenic shock). A total of 328 patients (200 males, 128 females, mean age, 65.84 ± 15.21 years old, range, 15-94 years) diagnosed with shock in Tongji Hospital were retrospectively investigated from Jun 2008 to Feb 2010. The parameters of liver function test, including alanine aminotransferanse (ALT), aspartate aminotransferanse (AST), lactate dehydrogenase (LDH), total bilirubin (TB), alkaline phosphatase (ALP) and ?-glutamyltransferase (?-GT), were recorded and analyzed. Besides, the serum levels of C-reactive protein (CRP) and brain natriuretic peptide (BNP) were also measured and relevant correlation analysis was conducted. Among all the cases, 242 (73.8%) patients developed ischemic hepatitis. The mortality of shock patients combined with ischemic hepatitis was significantly higher than the total mortality (26.0% vs 23.8%, P < 0.05). The incidence of hepatic damage was highest in the septic shock (87.5%), while the lowest in thehypovolemic shock (49.4%). The sensitivity of ALT elevation was higher than that of AST. In addition, CRP was positively correlated with the levels of liver function parameters in the septic shock and BNP was positively correlated with that in the cardiogenic shock. Ischemic hepatitis is a common complication of shock, increasing the mortality of shock patients. The septic shock is the most common cause of hepatic damage in shock patients. CRP may be a useful predictor for septic shock, while BNP may be a useful predictor for cardiogenic shock. PMID:26629201

  12. Clinical Features and Treatment Modes of Mandibular Fracture at the Department of Oral and Maxillofacial Surgery, Shimane University Hospital, Japan

    PubMed Central

    Nakatani, Eiji; Kagimura, Tatsuo; Sekine, Joji

    2015-01-01

    Background The number of elderly patients with maxillofacial trauma is rapidly increasing due to active lifestyles and longevity. Shimane prefecture has the fastest growing proportion of elderly individuals in Japan. The aim of this study was to reveal the distinctive features and treatment modes of mandibular fracture treatment mode in patients requiring hospitalization at the Department of Oral and Maxillofacial Surgery, Shimane University Hospital, Japan. Patients and Methods Patient age, sex, period between injury and first consultation, years since injury, cause of injury, fracture site, treatment, and duration of hospitalization were evaluated. Univariate Poisson regression, relative risk with 95% confidence interval based on the Wald test, Fisher’s exact test, and Kruskal-Wallis test were used to explore associations among clinical and demographic variables. Results In total, 305 patients were diagnosed with and hospitalized for mandibular fracture from 1980 to 2010. Younger age increased the risk for mandibular fracture. Incidence was higher in males than females, particularly in the young, but the male to female ratio decreased with age. The period until first hospital consultation decreased progressively over the study period. Fall was a much more frequent cause in patients aged ?60 than in those aged <60 years. Mandibular fracture with condyle, symphysis, and angle involvement were most common and were associated with sex, age, and treatment mode. Length of hospitalization has decreased since 1980. Conclusion In our department, patients aged ?60 years accounted for a greater proportion of mandibular fracture cases than in many previous studies, reflecting the greater proportion of elderly residents in Shimane prefecture. PMID:26334627

  13. Acute Zonal Occult Outer Retinopathy in Japanese Patients: Clinical Features, Visual Function, and Factors Affecting Visual Function

    PubMed Central

    Saito, Saho; Saito, Wataru; Saito, Michiyuki; Hashimoto, Yuki; Mori, Shohei; Noda, Kousuke; Namba, Kenichi; Ishida, Susumu

    2015-01-01

    Purpose To evaluate the clinical features and investigate their relationship with visual function in Japanese patients with acute zonal occult outer retinopathy (AZOOR). Methods Fifty-two eyes of 38 Japanese AZOOR patients (31 female and 7 male patients; mean age at first visit, 35.0 years; median follow-up duration, 31 months) were retrospectively collected: 31 untreated eyes with good visual acuity and 21 systemic corticosteroid-treated eyes with progressive visual acuity loss. Variables affecting the logMAR values of best-corrected visual acuity (BCVA) and the mean deviation (MD) on Humphrey perimetry at initial and final visits were examined using multiple stepwise linear regression analysis. Results In untreated eyes, the mean MD at the final visit was significantly higher than that at the initial visit (P = 0.00002). In corticosteroid-treated eyes, the logMAR BCVA and MD at the final visit were significantly better than the initial values (P = 0.007 and P = 0.02, respectively). The final logMAR BCVA was 0.0 or less in 85% of patients. Variables affecting initial visual function were moderate anterior vitreous cells, myopia severity, and a-wave amplitudes on electroretinography; factors affecting final visual function were the initial MD values, female sex, moderate anterior vitreous cells, and retinal atrophy. Conclusions Our data indicated that visual functions in enrolled patients significantly improved spontaneously or after systemic corticosteroids therapy, suggesting that Japanese patients with AZOOR have good visual outcomes during the follow-up period of this study. Furthermore, initial visual field defects, gender, anterior vitreous cells, and retinal atrophy affected final visual functions in these patients. PMID:25919689

  14. Sero-epidemiology of Hepatitis B Surface Antigenaemia among Adult Nigerians with Clinical Features of Liver Diseases Attending a Primary-Care Clinic in a Resource-Constrained Setting of Eastern Nigeria

    PubMed Central

    Iloh, Gabriel Uche Pascal; Ikwudinma, Austin Obiora

    2013-01-01

    Background: Hepatitis-B infection is not commonly perceived as a serious medical problem in Nigeria. However, chronic hepatitis-B infection, which is a subject of global concern, may lead to lethal liver diseases. Aim: The study was to determine the sero-epidemiology of hepatitis-B surface antigenaemia among adult Nigerians with clinical features of liver diseases attending a primary-care clinic in a resource-constrained setting of Eastern Nigeria. Materials and Methods: A cross-sectional study was carried out on 140 adult Nigerians with clinical features of liver diseases at the primary-care clinic of Federal Medical Centre, Owerri. They made up three groups: 44 patients, 62 patients and 34 patients with clinical features of hepatitis, liver cirrhosis and hepatocellular carcinoma, respectively. Hepatitis-B surface antigen (HBsAg) was assayed using an immunochromatographic method. Demographic variables were collected. Results: The overall sero-positivity rate was 50.7%. The sero-positivity rates for these patients were 23.9%, 39.5% and 36.6% for hepatitis, liver cirrhosis and hepatocellular carcinoma, respectively. The age group 40-60 years (P = 0.048) and artisans (P = 0.019) were significantly infected. Abdominal swelling (86.4%) and ascites (67.1%) were the most common symptoms and signs, respectively. Conclusion: HBsAg prevalence was high and has significant association with age and occupation. PMID:23724405

  15. Modeling Pathologic Response of Esophageal Cancer to Chemoradiation Therapy Using Spatial-Temporal {sup 18}F-FDG PET Features, Clinical Parameters, and Demographics

    SciTech Connect

    Zhang, Hao; Tan, Shan; Chen, Wengen; Kligerman, Seth; Kim, Grace; D'Souza, Warren D.; Suntharalingam, Mohan; Lu, Wei

    2014-01-01

    Purpose: To construct predictive models using comprehensive tumor features for the evaluation of tumor response to neoadjuvant chemoradiation therapy (CRT) in patients with esophageal cancer. Methods and Materials: This study included 20 patients who underwent trimodality therapy (CRT + surgery) and underwent {sup 18}F-fluorodeoxyglucose (FDG) positron emission tomography/computed tomography (PET/CT) both before and after CRT. Four groups of tumor features were examined: (1) conventional PET/CT response measures (eg, standardized uptake value [SUV]{sub max}, tumor diameter); (2) clinical parameters (eg, TNM stage, histology) and demographics; (3) spatial-temporal PET features, which characterize tumor SUV intensity distribution, spatial patterns, geometry, and associated changes resulting from CRT; and (4) all features combined. An optimal feature set was identified with recursive feature selection and cross-validations. Support vector machine (SVM) and logistic regression (LR) models were constructed for prediction of pathologic tumor response to CRT, cross-validations being used to avoid model overfitting. Prediction accuracy was assessed by area under the receiver operating characteristic curve (AUC), and precision was evaluated by confidence intervals (CIs) of AUC. Results: When applied to the 4 groups of tumor features, the LR model achieved AUCs (95% CI) of 0.57 (0.10), 0.73 (0.07), 0.90 (0.06), and 0.90 (0.06). The SVM model achieved AUCs (95% CI) of 0.56 (0.07), 0.60 (0.06), 0.94 (0.02), and 1.00 (no misclassifications). With the use of spatial-temporal PET features combined with conventional PET/CT measures and clinical parameters, the SVM model achieved very high accuracy (AUC 1.00) and precision (no misclassifications)—results that were significantly better than when conventional PET/CT measures or clinical parameters and demographics alone were used. For groups with many tumor features (groups 3 and 4), the SVM model achieved significantly higher accuracy than did the LR model. Conclusions: The SVM model that used all features including spatial-temporal PET features accurately and precisely predicted pathologic tumor response to CRT in esophageal cancer.

  16. TU-C-12A-09: Modeling Pathologic Response of Locally Advanced Esophageal Cancer to Chemo-Radiotherapy Using Quantitative PET/CT Features, Clinical Parameters and Demographics

    SciTech Connect

    Zhang, H; Chen, W; Kligerman, S; D’Souza, W; Suntharalingam, M; Lu, W; Tan, S; Kim, G

    2014-06-15

    Purpose: To develop predictive models using quantitative PET/CT features for the evaluation of tumor response to neoadjuvant chemo-radiotherapy (CRT) in patients with locally advanced esophageal cancer. Methods: This study included 20 patients who underwent tri-modality therapy (CRT + surgery) and had {sup 18}F-FDG PET/CT scans before initiation of CRT and 4-6 weeks after completion of CRT but prior to surgery. Four groups of tumor features were examined: (1) conventional PET/CT response measures (SUVmax, tumor diameter, etc.); (2) clinical parameters (TNM stage, histology, etc.) and demographics; (3) spatial-temporal PET features, which characterize tumor SUV intensity distribution, spatial patterns, geometry, and associated changes resulting from CRT; and (4) all features combined. An optimal feature set was identified with recursive feature selection and cross-validations. Support vector machine (SVM) and logistic regression (LR) models were constructed for prediction of pathologic tumor response to CRT, using cross-validations to avoid model over-fitting. Prediction accuracy was assessed via area under the receiver operating characteristic curve (AUC), and precision was evaluated via confidence intervals (CIs) of AUC. Results: When applied to the 4 groups of tumor features, the LR model achieved AUCs (95% CI) of 0.57 (0.10), 0.73 (0.07), 0.90 (0.06), and 0.90 (0.06). The SVM model achieved AUCs (95% CI) of 0.56 (0.07), 0.60 (0.06), 0.94 (0.02), and 1.00 (no misclassifications). Using spatial-temporal PET features combined with conventional PET/CT measures and clinical parameters, the SVM model achieved very high accuracy (AUC 1.00) and precision (no misclassifications), significantly better than using conventional PET/CT measures or clinical parameters and demographics alone. For groups with a large number of tumor features (groups 3 and 4), the SVM model achieved significantly higher accuracy than the LR model. Conclusion: The SVM model using all features including quantitative PET/CT features accurately and precisely predicted pathologic tumor response to CRT in esophageal cancer. This work was supported in part by National Cancer Institute Grant R21 CA131979 and R01 CA172638. Shan Tan was supported in part by the National Natural Science Foundation of China 60971112 and 61375018, and by Fundamental Research Funds for the Central Universities 2012QN086.

  17. Breast Cancer Ultrasound Images' Sequence Exploration Using BI-RADS Features' Extraction: Towards an Advanced Clinical Aided Tool for Precise Lesion Characterization.

    PubMed

    Sellami, Lamia; Sassi, O Ben; Chtourou, Khalil; Hamida, A Ben

    2015-10-01

    This research concerned a clinical need for precise breast cancer lesion characterization imaged by ultrasound sequences. Using therefore BI-RADS features that would be carefully extracted, the purpose of this study could be mainly to prove and to demonstrate the possibility of surveying precisely the changing characteristics of a breast cancer lesion within a considered ultrasound images' sequence. This was in fact a clinical need of a computer aided diagnosis (CAD) system permitting flexible and convivial clinical analysis of multi-slices' ultrasound breast cancer lesion with greater precision. The obtained results of our images' sequence breast cancer ultrasound analysis had shown the lesion form changing depending on the treated slice, as well as the values' differences for the morphological and the textural features. This would allow extracting more information about breast cancer lesions helping then radiologist to converge more rapidly and with a certain reinforced precision to the accurate clinical action to conduct. Such results would be reassembled and rearranged for constituting one computer aided diagnosis (CAD) system that could be provided for clinical explorations permitting on the other hand to avoid possible confusion between benign and malignant masses. PMID:26513796

  18. Mouse somatic mutation orthologous to MELAS A3302G mutation in the mitochondrial tRNA(Leu(UUR)) gene confers respiration defects.

    PubMed

    Shimizu, Akinori; Enoki, Shunkei; Ishikawa, Kaori; Mito, Takayuki; Obata, Kanae; Nagashima, Ruriko; Yonekawa, Hiromichi; Nakada, Kazuto; Hayashi, Jun-Ichi

    2015-11-27

    We searched for mtDNA harboring somatic mutations in mouse B82 cells, and found an A2748G mutation orthologous to the A3302G mutation in tRNA(Leu(UUR)) gene reported in a patient with MELAS, the most prevalent mitochondrial disease. We isolated subclones of B82 cells until we obtained one subclone harboring >95% A2748G mtDNA. Cytoplasmic transfer of A2748G mtDNA resulted in cotransfer of A2748G mtDNA and respiration defects into mouse ES cells. Thus, A2748G mtDNA is responsible for respiration defects, and the ES cells harboring A2748G mtDNA may be useful for generation of transmitochondrial mice harboring A2748G mtDNA as potential disease models of MELAS. PMID:26381171

  19. T-RECS: STABLE SELECTION OF DYNAMICALLY FORMED GROUPS OF FEATURES WITH APPLICATION TO PREDICTION OF CLINICAL OUTCOMES

    PubMed Central

    Huang, Grace T.; Tsamardinos, Ioannis; Raghu, Vineet; Kaminski, Naftali; Benos, Panayiotis V.

    2014-01-01

    Feature selection is used extensively in biomedical research for biomarker identification and patient classification, both of which are essential steps in developing personalized medicine strategies. However, the structured nature of the biological datasets and high correlation of variables frequently yield multiple equally optimal signatures, thus making traditional feature selection methods unstable. Features selected based on one cohort of patients, may not work as well in another cohort. In addition, biologically important features may be missed due to selection of other co-clustered features We propose a new method, Tree-guided Recursive Cluster Selection (T-ReCS), for efficient selection of grouped features. T-ReCS significantly improves predictive stability while maintains the same level of accuracy. T-ReCS does not require an a priori knowledge of the clusters like group-lasso and also can handle “orphan” features (not belonging to a cluster). T-ReCS can be used with categorical or survival target variables. Tested on simulated and real expression data from breast cancer and lung diseases and survival data, T-ReCS selected stable cluster features without significant loss in classification accuracy. PMID:25592602

  20. Clinical, Trichoscopic, and Histopathological Features of Primary Cicatricial Alopecias: A Retrospective Observational Study at a Tertiary Care Centre of North East India

    PubMed Central

    Thakur, Binod Kumar; Verma, Shikha; Raphael, Vandana

    2015-01-01

    Background: The primary cicatricial alopecias (PCAs) are a rare group of diseases where hair follicle is the primary target of destruction. There are a few studies on histopathological and trichoscopic features of PCA. Aims: To study the clinical, trichoscopic, and histopathological characteristics of PCAs of the scalp and to find out the concordance between trichoscopic and histopathological diagnosis. Materials and Methods: We retrospectively analyzed the clinical, trichoscopic, and histopathological features of 24 PCA patients. Fisher's Chi-square exact test was done to find the significant trichoscopic and histopathological features. Cohen's kappa coefficient was used to determine the agreement between histopathological and trichoscopic diagnosis. Results: A total of 24 patients of PCA were seen with a male: female ratio of 2:1. There were 10 (41.7%) patients of discoid lupus erythematosus (DLE), 5 (20.8%) of lichen planopilaris (LPP), 3 (12.5%) of dissecting cellulitis of scalp, and 2 (8.3%) each of pseudopelade of brocq, folliculitis decalvans, and frontal fibrosing alopecia. The important histopathological findings of DLE were follicular plugging, vacuolar changes in the basal layer, necrotic keratinocytes, and superficial and deep perifollicular and perivascular lymphocytic infiltrate. Histopathology of LPP showed vacuolar changes in the basal layer and lichenoid infiltrate involving the infundibulum and isthmus. Trichoscopy of DLE showed follicular plugging, yellow dots, and thick arborizing blood vessels. The peripilar cast was important finding in LPP. The characteristic yellow dot with three-dimensional structure was noted in dissecting cellulitis of the scalp. The Cohen's kappa agreement was 0.89 between histopathological and trichoscopic diagnosis. Conclusion: The diagnosis of PCA is challenging because of overlapping features clinically and histopathologically. Trichoscopy may provide quick and reliable diagnosis and obviate the necessity of scalp biopsy in busy clinics.

  1. Distinct pattern of immunophenotypic features of innate and adaptive immunity as a putative signature of clinical and laboratorial status of patients with localized cutaneous leishmaniasis.

    PubMed

    Freitas-Teixeira, P M; Silveira-Lemos, D; Giunchetti, R C; Baratta-Masini, A; Mayrink, W; Peruhype-Magalhães, V; Rocha, R D R; Campi-Azevedo, A C; Teixeira-Carvalho, A; Martins-Filho, O A

    2012-10-01

    In this study, we have analysed the phenotypic features of innate/adaptive immunity of patients with localized cutaneous leishmaniasis (LCL), categorized according to their clinical/laboratorial status, including number of lesion (L1; L2–4), days of illness duration (?60;>60) and positivity in the Montenegro skin test (MT?;MT+). Our findings highlighted a range of phenotypic features observed in patients with LCL (?%HLA-DR+ neutrophils; ?CD8+ HLA-DR+/CD4+ HLA-DR+ T cell ratio; ?HLA-DR in B lymphocytes, ?%CD23+ neutrophils, monocytes and B cells; ??-Leishmania IgG and ?serum NO?? + NO??). Selective changes were observed in L1 (?%HLA-DR+ neutrophils, ?CD8+ HLA-DR+/CD4+ HLA-DR+ T cell ratio and ?serum NO?? + NO??) as compared to L2–4 (?%CD5? B cells; ?CD23+ B cells and ??-Leishmania IgG). Whilst ?60 presented a mixed profile of innate/adaptive immunity (?%CD28+ neutrophils and ?%CD4+ T cells), >60 showed a well-known leishmanicidal events (?CD8+ T cells; ?serum NO?? + NO?? and ??-Leishmania IgG). MT+ patients showed increased putative leishmanicidal capacity (?%HLA-DR+ neutrophils; ?%CD23+ monocytes; ?CD8+ HLA-DR+/CD4+ HLA-DR+ T cell ratio and ? serum NO?? + NO??). Overall, a range of immunological biomarkers illustrates the complex immunological network associated with distinct clinical/laboratorial features of LCL with applicability in clinical studies. PMID:22823491

  2. The Characteristic Features of Auditory Verbal Hallucinations in Clinical and Nonclinical Groups: State-of-the-Art Overview and Future Directions

    PubMed Central

    Larøi, Frank; Sommer, Iris E.; Blom, Jan Dirk; Fernyhough, Charles; ffytche, Dominic H.; Hugdahl, Kenneth; Johns, Louise C.; McCarthy-Jones, Simon; Preti, Antonio; Raballo, Andrea; Slotema, Christina W.; Stephane, Massoud; Waters, Flavie

    2012-01-01

    Despite a growing interest in auditory verbal hallucinations (AVHs) in different clinical and nonclinical groups, the phenomenological characteristics of such experiences have not yet been reviewed and contrasted, limiting our understanding of these phenomena on multiple empirical, theoretical, and clinical levels. We look at some of the most prominent descriptive features of AVHs in schizophrenia (SZ). These are then examined in clinical conditions including substance abuse, Parkinson’s disease, epilepsy, dementia, late-onset SZ, mood disorders, borderline personality disorder, hearing impairment, and dissociative disorders. The phenomenological changes linked to AVHs in prepsychotic stages are also outlined, together with a review of AVHs in healthy persons. A discussion of key issues and future research directions concludes the review. PMID:22499783

  3. The characteristic features of auditory verbal hallucinations in clinical and nonclinical groups: state-of-the-art overview and future directions.

    PubMed

    Larøi, Frank; Sommer, Iris E; Blom, Jan Dirk; Fernyhough, Charles; Ffytche, Dominic H; Hugdahl, Kenneth; Johns, Louise C; McCarthy-Jones, Simon; Preti, Antonio; Raballo, Andrea; Slotema, Christina W; Stephane, Massoud; Waters, Flavie

    2012-06-01

    Despite a growing interest in auditory verbal hallucinations (AVHs) in different clinical and nonclinical groups, the phenomenological characteristics of such experiences have not yet been reviewed and contrasted, limiting our understanding of these phenomena on multiple empirical, theoretical, and clinical levels. We look at some of the most prominent descriptive features of AVHs in schizophrenia (SZ). These are then examined in clinical conditions including substance abuse, Parkinson's disease, epilepsy, dementia, late-onset SZ, mood disorders, borderline personality disorder, hearing impairment, and dissociative disorders. The phenomenological changes linked to AVHs in prepsychotic stages are also outlined, together with a review of AVHs in healthy persons. A discussion of key issues and future research directions concludes the review. PMID:22499783

  4. Natural history of premacular hemorrhage due to severe acute anemia: clinical and anatomical features in two untreated patients.

    PubMed

    Turco, Claudia Del; La Spina, Carlo; Mantovani, Elena; Gagliardi, Marco; Lattanzio, Rosangela; Pierro, Luisa

    2014-01-01

    Premacular retrohyaloid hemorrhage is a rare complication of acute severe anemia. The authors report two cases of premacular hemorrhage in which no treatment other than clinical and spectral-domain optical coherence tomography observation was performed. The natural history of this condition reveals that complete clinical resolution is not accompanied by full anatomical restoration. [Ophthalmic Surg Lasers Imaging Retina. 2014;45:E5-E7.]. PMID:24496165

  5. Clinical-Pathologic Features and Long-Term Outcomes of Tubular Carcinoma of the Breast Compared With Invasive Ductal Carcinoma Treated With Breast Conservation Therapy

    SciTech Connect

    Liu, Gene-Fu F.; Yang Qifeng; Haffty, Bruce G.; Moran, Meena S.

    2009-12-01

    Purpose: To evaluate our institutional experience of treating tubular carcinoma of the breast (TC) and invasive ductal carcinoma (IDC) with conservative surgery and radiation therapy, to compare clinical-pathologic features and long-term outcomes. Methods and Materials: A review of our institution's tumor registry from 1975 to 2007, followed by a central pathology review of available slides, yielded 71 cases of Stage I/II TC and 2,238 cases of Stage I/II IDC treated with breast conservation therapy. Clinical-pathologic features and outcomes were analyzed by subtype to detect significant differences. Results: The median follow-up was 7 years. The TC cohort presented more frequently with pT1 disease (97% vs. 80%, p = 0.0007), pN0 disease (95% vs. 74%, p = 0.0004), hormone-receptor positivity (ER+, 89% vs. 62%, p = 0.0001; PR+, 81% vs. 52%, p = 0.0001), and HER-2 negativity (89% vs. 71%, p = 0.04). Clinical outcomes also favored the TC cohort, with lower rates of breast cancer-related death (1% vs. 10%; p = 0.0109) and distant metastasis (1% vs. 13%; p = 0.0028) and higher rates of 10-year overall (90% vs. 80%; p = 0.033), cause-specific (99% vs. 86%; p = 0.011), and disease-free (99% vs. 82%; p = 0.003) survival. There was a nonsignificant trend toward improved breast cancer relapse-free survival for the TC cohort (95% vs. 87%; p = 0.062) but no difference in nodal relapse-free survival or contralateral breast cancer relapse-free survival (all p values >0.05) between the cohorts. Conclusion: Our institutional experience suggests that TC, when compared with IDC, is associated with more favorable clinical-pathologic features and comparable, if not superior, outcomes after breast conservation therapy, suggesting the appropriateness of a conservative approach to this rare subtype.

  6. The relevance of "non-criteria" clinical manifestations of antiphospholipid syndrome: 14th International Congress on Antiphospholipid Antibodies Technical Task Force Report on Antiphospholipid Syndrome Clinical Features.

    PubMed

    Abreu, Mirhelen M; Danowski, Adriana; Wahl, Denis G; Amigo, Mary-Carmen; Tektonidou, Maria; Pacheco, Marcelo S; Fleming, Norma; Domingues, Vinicius; Sciascia, Savino; Lyra, Julia O; Petri, Michelle; Khamashta, Munther; Levy, Roger A

    2015-05-01

    The purpose of this task force was to critically analyze nine non-criteria manifestations of APS to support their inclusion as APS classification criteria. The Task Force Members selected the non-criteria clinical manifestations according to their clinical relevance, that is, the patient-important outcome from clinician perspective. They included superficial vein thrombosis, thrombocytopenia, renal microangiopathy, heart valve disease, livedo reticularis, migraine, chorea, seizures and myelitis, which were reviewed by this International Task Force collaboration, in addition to the seronegative APS (SN-APS). GRADE system was used to evaluate the quality of evidence of medical literature of each selected item. This critical appraisal exercise aimed to support the debate regarding the clinical picture of APS. We found that the overall GRADE analysis was very low for migraine and seizures, low for superficial venous thrombosis, thrombocytopenia, chorea, longitudinal myelitis and the so-called seronegative APS and moderate for APS nephropathy, heart valve lesions and livedo reticularis. The next step can be a critical redefinition of an APS gold standard, for instance derived from the APS ACTION registry that will include not only current APS patients but also those with antiphospholipid antibodies not meeting current classification criteria. PMID:25641203

  7. A Data-Driven Algorithm Integrating Clinical and Laboratory Features for the Diagnosis and Prognosis of Necrotizing Enterocolitis

    PubMed Central

    Hu, Zhongkai; Zheng, Xiaolin; Xu, Zhening; Wen, Qiaojun; Kastenberg, Zachary J.; Li, Ping; Abdullah, Fizan; Brandt, Mary L.; Ehrenkranz, Richard A.; Harris, Mary Catherine; Lee, Timothy C.; Simpson, B. Joyce; Bowers, Corinna; Moss, R. Lawrence; Sylvester, Karl G.

    2014-01-01

    Background Necrotizing enterocolitis (NEC) is a major source of neonatal morbidity and mortality. Since there is no specific diagnostic test or risk of progression model available for NEC, the diagnosis and outcome prediction of NEC is made on clinical grounds. The objective in this study was to develop and validate new NEC scoring systems for automated staging and prognostic forecasting. Study design A six-center consortium of university based pediatric teaching hospitals prospectively collected data on infants under suspicion of having NEC over a 7-year period. A database comprised of 520 infants was utilized to develop the NEC diagnostic and prognostic models by dividing the entire dataset into training and testing cohorts of demographically matched subjects. Developed on the training cohort and validated on the blind testing cohort, our multivariate analyses led to NEC scoring metrics integrating clinical data. Results Machine learning using clinical and laboratory results at the time of clinical presentation led to two NEC models: (1) an automated diagnostic classification scheme; (2) a dynamic prognostic method for risk-stratifying patients into low, intermediate and high NEC scores to determine the risk for disease progression. We submit that dynamic risk stratification of infants with NEC will assist clinicians in determining the need for additional diagnostic testing and guide potential therapies in a dynamic manner. Algorithm availability http://translationalmedicine.stanford.edu/cgi-bin/NEC/index.pl and smartphone application upon request. PMID:24587080

  8. Feature engineering combined with machine learning and rule-based methods for structured information extraction from narrative clinical discharge summaries

    PubMed Central

    Xu, Yan; Hong, Kai; Tsujii, Junichi

    2012-01-01

    Objective A system that translates narrative text in the medical domain into structured representation is in great demand. The system performs three sub-tasks: concept extraction, assertion classification, and relation identification. Design The overall system consists of five steps: (1) pre-processing sentences, (2) marking noun phrases (NPs) and adjective phrases (APs), (3) extracting concepts that use a dosage-unit dictionary to dynamically switch two models based on Conditional Random Fields (CRF), (4) classifying assertions based on voting of five classifiers, and (5) identifying relations using normalized sentences with a set of effective discriminating features. Measurements Macro-averaged and micro-averaged precision, recall and F-measure were used to evaluate results. Results The performance is competitive with the state-of-the-art systems with micro-averaged F-measure of 0.8489 for concept extraction, 0.9392 for assertion classification and 0.7326 for relation identification. Conclusions The system exploits an array of common features and achieves state-of-the-art performance. Prudent feature engineering sets the foundation of our systems. In concept extraction, we demonstrated that switching models, one of which is especially designed for telegraphic sentences, improved extraction of the treatment concept significantly. In assertion classification, a set of features derived from a rule-based classifier were proven to be effective for the classes such as conditional and possible. These classes would suffer from data scarcity in conventional machine-learning methods. In relation identification, we use two-staged architecture, the second of which applies pairwise classifiers to possible candidate classes. This architecture significantly improves performance. PMID:22586067

  9. Machine Learning classification of MRI features of Alzheimer's disease and mild cognitive impairment subjects to reduce the sample size in clinical trials.

    PubMed

    Escudero, Javier; Zajicek, John P; Ifeachor, Emmanuel

    2011-01-01

    There is a need for objective tools to help clinicians to diagnose Alzheimer's Disease (AD) early and accurately and to conduct Clinical Trials (CTs) with fewer patients. Magnetic Resonance Imaging (MRI) is a promising AD biomarker but no single MRI feature is optimal for all disease stages. Machine Learning classification can address these challenges. In this study, we have investigated the classification of MRI features from AD, Mild Cognitive Impairment (MCI), and control subjects from ADNI with four techniques. The highest accuracy rates for the classification of controls against ADs and MCIs were 89.2% and 72.7%, respectively. Moreover, we used the classifiers to select AD and MCI subjects who are most likely to decline for inclusion in hypothetical CTs. Using the hippocampal volume as an outcome measure, we found that the required group sizes for the CTs were reduced from 197 to 117 AD patients and from 366 to 215 MCI subjects. PMID:22256186

  10. Clinical Aspects, Imaging Features, and Considerations on Bisphosphonate-Related Osteonecrosis Risk in a Pediatric Patient with Osteogenesis Imperfecta

    PubMed Central

    Costa, Fábio Wildson Gurgel; Nogueira, Alexandre Simões; Rodrigues Carvalho, Francisco Samuel; Pereira, Karuza Maria Alves; Kurita, Lúcio Mitsuo; Rodrigues, Rodrigo Rodrigues; Fonteles, Cristiane Sá Roriz

    2014-01-01

    Osteogenesis imperfecta (OI) is a rare hereditary condition caused by changes in collagen metabolism. It is classified into four types according to clinical, genetic, and radiological criteria. Clinically, bone fragility, short stature, blue sclerae, and locomotion difficulties may be observed in this disease. OI is often associated to severe dental problems, such as dentinogenesis imperfecta (DI) and malocclusions. Radiographically, affected teeth may have crowns with bulbous appearance, accentuated constriction in the cementoenamel junction, narrowed roots, large root canals due to defective dentin formation, and taurodontism (enlarged pulp chambers). There is no definitive cure, but bisphosphonate therapy is reported to improve bone quality; however, there is a potential risk of bisphosphonate-related osteonecrosis of the jaw. In this study we report a case of OI in a male pediatric patient with no family history of OI who was receiving ongoing treatment with intravenous perfusion of bisphosphonate and who required dental surgery. In addition, we discussed the clinical and imaging findings and briefly reviewed the literature. PMID:25215248

  11. Ehlers–Danlos syndrome type VIII is clinically heterogeneous disorder associated primarily with periodontal disease, and variable connective tissue features

    PubMed Central

    Reinstein, Eyal; DeLozier, Celia Dawn; Simon, Ziv; Bannykh, Serguei; Rimoin, David L; Curry, Cynthia J

    2013-01-01

    Ehlers–Danlos syndrome (EDS) type VIII (periodontitis type) is a distinct form of EDS characterized by periodontal disease leading to precocious dental loss and a spectrum of joint and skin manifestations. EDS type VIII is transmitted in an autosomal dominant pattern; however, the mutated gene has not been identified. There are insufficient data on the spectrum of clinical manifestations and natural history of the disorder, and only a limited number of patients and pedigrees with this condition have been reported. We present a four-generation EDS type VIII kindred and show that EDS VIII is clinically variable and although some cases lack the associated skin and joint manifestations, microscopic evidence of collagen disorganization is detectable. We further propose that the diagnosis of EDS type VIII should be considered in familial forms of periodontitis, even when the associated skin and joint manifestations are unconvincing for the diagnosis of a connective tissue disorder. This novel observation highlights the uncertainty of using connective tissue signs in clinical practice to diagnose EDS type VIII. PMID:22739343

  12. Clinical features of AIDS patients with Hodgkin’s lymphoma with isolated bone marrow involvement: report of 12 cases at a single institution

    PubMed Central

    Corti, Marcelo; Villafañe, Maria; Minue, Gonzalo; Campitelli, Ana; Narbaitz, Marina; Gilardi, Leonardo

    2015-01-01

    Objective To study the main clinical and histopathological features of 12 patients with Hodgkin’s lymphoma (HL) diagnosed primarily from bone marrow (BM) involvement. Methods We included 12 acquired immunodeficiency syndrome (AIDS) patients with HL assisted in the F. J. Muñiz Infectious Diseases Hospital since January 2002 to December 2013. The diagnosis of HL with primary BM involvement in patients was confirmed by clinical, histopathological, and immunohistochemical findings. Results All patients presented “B” symptoms and pancytopenia. All of them had stage IV neoplasm disease because of BM infiltration. The median of CD4+ T-cell counts was 114 cells/?L, and mixed cellularity (MC) was the most frequent histopathological subtype of 92% cases. Conclusion When other causes are excluded, BM biopsy should be performed in AIDS patients with “B” symptoms and pancytopenia to evaluate BM infiltration by atypical lymphocytes. PMID:25859410

  13. Investigating the role of executive attentional control to self-harm in a non-clinical cohort with borderline personality features

    PubMed Central

    Drabble, Jennifer; Bowles, David P.; Barker, Lynne Ann

    2014-01-01

    Self-injurious behavior (or self-harm) is a frequently reported maladaptive behavior in the general population and a key feature of borderline personality disorder (BPD). Poor affect regulation is strongly linked to a propensity to self-harm, is a core component of BPD, and is linked with reduced attentional control abilities. The idea that attentional control difficulties may provide a link between BPD, negative affect and self-harm has yet to be established, however. The present study explored the putative relationship between levels of BPD features, three aspects of attentional/executive control, affect, and self-harm history in a sample of 340 non-clinical participants recruited online from self-harm forums and social networking sites. Analyses showed that self-reported levels of BPD features and attentional focusing predicted self-harm incidence, and high attentional focusing increased the likelihood of a prior self-harm history in those with high BPD features. Ability to shift attention was associated with a reduced likelihood of self-harm, suggesting that good attentional switching ability may provide a protective buffer against self-harm behavior for some individuals. These attentional control differences mediated the association between negative affect and self-harm, but the relationship between BPD and self-harm appears independent. PMID:25191235

  14. Plasma Levels of Osteopontin and Vascular Endothelial Growth Factor in Association with Clinical Features and Parameters of Tumor Burden in Patients with Multiple Myeloma

    PubMed Central

    Valkovi?, Toni; Babarovi?, Emina; Lu?in, Ksenija; Štifter, Sanja; Aralica, Merica; Pe?ani?, Sanja; Seili-Bekafigo, Irena; Duleti?-Na?inovi?, Antica; Nemet, Damir; Jonji?, Nives

    2014-01-01

    The aim of this pilot study was to determine the plasma levels of osteopontin (OPN) and vascular endothelial growth factor (VEGF) and find possible association between them and main clinical features and parameters of tumor burden in patient with multiple myeloma (MM). Plasma levels of OPN and VEGF were determined in 44 newly diagnosed MM patients and 24 healthy persons by ELISA method. These values were compared with the presence of anemia, renal dysfunction, and bone lesions as myeloma related clinical manifestations and with serum beta-2 microglobulin and Durie-Salmon clinical stage as prognosticators related to tumor mass. The value of OPN was significantly higher in MM patients with evident bone lesions (P = 0.03) and there was also a positive correlation with serum beta-2 microglobulin (r = 0.366; P = 0.04). Furthermore, patients with lower Durie-Salmon stage had significantly lower OPN and VEGF levels (P = 0.05; P = 0.04, resp.). Our preliminary results found positive association between plasma level of OPN, tumor burden, and bone destruction. Further analysis should provide information about the possible use of OPN as useful clinical biomarker for monitoring bone disease and tumor mass, as well as a prognostic factor, or a possible target for pharmacological intervention. PMID:24995304

  15. Cytogenetic and Clinical Features in Children Suspected With Congenital Abnormalities in 1 Medical Center of Zhejiang Province From 2011 to 2014

    PubMed Central

    Mao, Shujiong; Sun, Liying; Tu, Miaoying; Zou, Chaochun; Wang, Xiumin

    2015-01-01

    Abstract This study aimed to investigate the detection rate of chromosome abnormalities in children suspected with congenital disorders in 1 single center, identify any differences according to different classification criteria, and try to enlighten the medical professionals what clinical features should be transferred for cytogenetic analysis. From January 1, 2011 to March 31, 2014, children who were suspected with chromosomal disorders were included. All the cytogenetic analyses were performed in the Medical Biology and Genetic Department Laboratory in Zhejiang DIAN Diagnostics. We evaluated the variants of clinical indications, and incidence and types of chromosomal abnormalities among groups. During the study period, 4129 samples were collected and analyzed. Among them, 769 children were detected with chromosome abnormalities, accounting for 18.62% of all referral cases. The ratio of sex-linked chromosomal abnormalities to autosomal ones was 1:3.2. The detection rates were 19.66% (365/1857) for boys and 17.78% (404/2272) for girls. Most of trisomy 21 were found before the age of 1 year old, while most of children with Turner syndrome were found after 6 years old. The group presenting with specific clinical stigmata had highest detection rate of 59.1%. We demonstrated the detection rates of chromosome abnormalities in children who were suspected with chromosomal disorders. Combined with previous report, we established a database of common chromosomal anomalies and the clinical features that could be useful for genetic counseling and remind the medical professionals what kind of patients should be transferred to genetic analysis. PMID:26496335

  16. Clinical features, tumor biology, and prognosis associated with MYC rearrangement and Myc overexpression in diffuse large B-cell lymphoma patients treated with rituximab-CHOP.

    PubMed

    Xu-Monette, Zijun Y; Dabaja, Bouthaina S; Wang, Xiaoxiao; Tu, Meifeng; Manyam, Ganiraju C; Tzankov, Alexander; Xia, Yi; Zhang, Li; Sun, Ruifang; Visco, Carlo; Dybkaer, Karen; Yin, Lihui; Chiu, April; Orazi, Attilio; Zu, Youli; Bhagat, Govind; Richards, Kristy L; Hsi, Eric D; Choi, William Wl; van Krieken, J Han; Huh, Jooryung; Ponzoni, Maurilio; Ferreri, Andrés Jm; Møller, Michael B; Parsons, Ben M; Zhao, Xiaoying; Winter, Jane N; Piris, Miguel A; McDonnell, Timothy J; Miranda, Roberto N; Li, Yong; Medeiros, L Jeffrey; Young, Ken H

    2015-12-01

    MYC dysregulation, including MYC gene rearrangement and Myc protein overexpression, is of increasing clinical importance in diffuse large B-cell lymphoma (DLBCL). However, the roles of MYC and the relative importance of rearrangement vs overexpression remain to be refined. Gaining knowledge about the tumor biology associated with MYC dysregulation is important to understand the roles of MYC and MYC-associated biology in lymphomagenesis. In this study, we determined MYC rearrangement status (n=344) and Myc expression (n=535) in a well-characterized DLBCL cohort, individually assessed the clinical and pathobiological features of patients with MYC rearrangement and Myc protein overexpression, and analyzed the prognosis and gene expression profiling signatures associated with these MYC abnormalities in germinal center B-cell-like and activated B-cell-like DLBCL. Our results showed that the prognostic importance of MYC rearrangement vs Myc overexpression is significantly different in germinal center B-cell-like vs activated B-cell-like DLBCL. In germinal center B-cell-like DLBCL, MYC-rearranged germinal center B-cell-like DLBCL patients with Myc overexpression significantly contributed to the clinical, biological, and prognostic characteristics of the overall Myc-overexpressing germinal center B-cell-like DLBCL group. In contrast, in activated B-cell-like DLBCL, the occurrence, clinical and biological features, and prognosis of Myc overexpression were independent of MYC rearrangement. High Myc levels and Myc-independent mechanisms, either tumor cell intrinsic or related to tumor microenvironment, conferred significantly worse survival to MYC-rearranged germinal center B-cell-like DLBCL patients, even among Myc(high)Bcl-2(high) DLBCL patients. This study provides new insight into the tumor biology and prognostic effects associated with MYC dysregulation and suggest that detection of both MYC translocations and evaluation of Myc and Bcl-2 expression is necessary to predict the prognosis of DLBCL patients. PMID:26541272

  17. Cytogenetic and Clinical Features in Children Suspected With Congenital Abnormalities in 1 Medical Center of Zhejiang Province From 2011 to 2014.

    PubMed

    Mao, Shujiong; Sun, Liying; Tu, Miaoying; Zou, Chaochun; Wang, Xiumin

    2015-10-01

    This study aimed to investigate the detection rate of chromosome abnormalities in children suspected with congenital disorders in 1 single center, identify any differences according to different classification criteria, and try to enlighten the medical professionals what clinical features should be transferred for cytogenetic analysis.From January 1, 2011 to March 31, 2014, children who were suspected with chromosomal disorders were included. All the cytogenetic analyses were performed in the Medical Biology and Genetic Department Laboratory in Zhejiang DIAN Diagnostics. We evaluated the variants of clinical indications, and incidence and types of chromosomal abnormalities among groups.During the study period, 4129 samples were collected and analyzed. Among them, 769 children were detected with chromosome abnormalities, accounting for 18.62% of all referral cases. The ratio of sex-linked chromosomal abnormalities to autosomal ones was 1:3.2. The detection rates were 19.66% (365/1857) for boys and 17.78% (404/2272) for girls. Most of trisomy 21 were found before the age of 1 year old, while most of children with Turner syndrome were found after 6 years old. The group presenting with specific clinical stigmata had highest detection rate of 59.1%.We demonstrated the detection rates of chromosome abnormalities in children who were suspected with chromosomal disorders. Combined with previous report, we established a database of common chromosomal anomalies and the clinical features that could be useful for genetic counseling and remind the medical professionals what kind of patients should be transferred to genetic analysis. PMID:26496335

  18. Epidemiological and clinical features, response to HAART, and survival in HIV-infected patients diagnosed at the age of 50 or more

    PubMed Central

    Nogueras, MaMercedes; Navarro, Gemma; Antón, Esperança; Sala, Montserrat; Cervantes, Manel; Amengual, MaJosé; Segura, Ferran

    2006-01-01

    Background Over the last years, the mean age of subjects with HIV infection and AIDS is increasing. Moreover, some epidemiological and clinical differences between younger and older HIV-infected individuals have been observed. However, since introduction of HAART therapy, there are controversial results regarding their response to HAART. The aim of the present study is to evaluate epidemiological and clinical features, response to HAART, and survival in elderly HIV-infected patients with regard to younger HIV-infected patients. Methods A prospective cohort study (1998–2003) was performed on patients from Sabadell Hospital, in Northeast of Spain. The cohort includes newly attended HIV-infected patients since January 1, 1998. For the purpose of this analysis, data was censured at December 31, 2003. Taking into account age at time of diagnosis, it was considered 36 HIV-positive people aged 50 years or more (Group 1, G1) and 419 HIV-positive people aged 13–40 years (Group 2, G2). Epidemiological, clinical, biological and therapy data are recorded. Statistical analysis was performed using Chi-squared test and Fisher exact test, Mann-Whitney U test, Kaplan-Meier, Log Rank test, and Two-Way ANOVA from random factors. Results G1 showed higher proportion of men than G2. The most common risk factors in G1 were heterosexual transmission (P = 0.01) and having sex with men or women (P < 0.001). G1 and G2 show parallel profiles through the time regarding immunological response (P = 0.989) and virological response (P = 0.074). However, older people showed lower CD4 cell counts at first clinic visit (P < 0.001) and, eventually, they did not achieve the same counts as G2. G1 presented faster progression to AIDS (P < 0.001) and shorter survival (P < 0.001). Conclusion Older patients have different epidemiological features. Their immunological and virological responses are good. However, older patients do not achieve the same CD4 cell counts likely due to they have lower counts at first clinic visit. Thus, it is essential physicians know older HIV-infected patients features to consider the possibility of HIV infection in these patients with the aim of treatment would not be delayed. PMID:17087819

  19. Fatal Asphyxiation in Two Long-Finned Pilot Whales (Globicephala melas) Caused by Common Soles (Solea solea).

    PubMed

    IJsseldijk, Lonneke L; Leopold, Mardik F; Bravo Rebolledo, Elisa L; Deaville, Rob; Haelters, Jan; IJzer, Jooske; Jepson, Paul D; Gröne, Andrea

    2015-01-01

    Long-finned pilot whales (Globicephala melas) are rare visitors to the southern North Sea, but recently two individual strandings occurred on the Dutch coast. Both animals shared the same, unusual cause of death: asphyxiation from a common sole (Solea solea) stuck in their nasal cavity. This is a rare cause of death in cetaceans. Whilst asphyxiation has been reported in smaller odontocetes, there are no recent records of this occurring in Globicephala species. Here we report the stranding, necropsy and diet study results as well as discuss the unusual nature of this phenomenon. Flatfish are not a primary prey species for pilot whales and are rarely eaten by other cetaceans, such as harbour porpoises (Phocoena phocoena), in which there are several reports of asphyxiation due to airway obstruction by soles. This risk may be due to the fish's flexible bodies which can enter small cavities either actively in an attempt to escape or passively due to the whale 'coughing' or 'sneezing' to rid itself of the blockage of the trachea. It is also possible that the fish enter the airways whilst the whale is re-articulating the larynx after trying to ingest large, oddly shaped prey. It is unlikely that the soles entered the airways after the death of the whales and we believe therefore that they are responsible for the death of these animals. PMID:26580786

  20. Fatal Asphyxiation in Two Long-Finned Pilot Whales (Globicephala melas) Caused by Common Soles (Solea solea)

    PubMed Central

    IJsseldijk, Lonneke L.; Leopold, Mardik F.; Bravo Rebolledo, Elisa L.; Deaville, Rob; Haelters, Jan; IJzer, Jooske; Jepson, Paul D.; Gröne, Andrea

    2015-01-01

    Long-finned pilot whales (Globicephala melas) are rare visitors to the southern North Sea, but recently two individual strandings occurred on the Dutch coast. Both animals shared the same, unusual cause of death: asphyxiation from a common sole (Solea solea) stuck in their nasal cavity. This is a rare cause of death in cetaceans. Whilst asphyxiation has been reported in smaller odontocetes, there are no recent records of this occurring in Globicephala species. Here we report the stranding, necropsy and diet study results as well as discuss the unusual nature of this phenomenon. Flatfish are not a primary prey species for pilot whales and are rarely eaten by other cetaceans, such as harbour porpoises (Phocoena phocoena), in which there are several reports of asphyxiation due to airway obstruction by soles. This risk may be due to the fish’s flexible bodies which can enter small cavities either actively in an attempt to escape or passively due to the whale ‘coughing’ or ‘sneezing’ to rid itself of the blockage of the trachea. It is also possible that the fish enter the airways whilst the whale is re-articulating the larynx after trying to ingest large, oddly shaped prey. It is unlikely that the soles entered the airways after the death of the whales and we believe therefore that they are responsible for the death of these animals. PMID:26580786

  1. Hydrated Minerals Associated with Interior Layered Deposits near the Southern Wall of Melas Chasma, Valles Marineris, Mars

    NASA Astrophysics Data System (ADS)

    Liu, Y.; Arvidson, R. E.

    2011-12-01

    MRO CRISM full resolution targeted mode hyperspectral image data (FRT00013F5B) centered at 10.22 S, 74.46 W over a portion of the southern wall and nearby floor of Melas Chasma show a sequence of interior layered deposits with distinct mineral associations. This study area is located to the southeast of the region analyzed by Roach et al. (2010, Icarus, 206, 253-268). The topography associated the deposits was examined using standard product elevation maps derived from HRSC data and used along with superposition relationships to help define the stratigraphic order. The bottom of the exposed section consists of repeating interbedded monohydrated and polyhydrated sulfate-bearing layers. Jarosite-bearing layers are found above this sequence, along with layers that have a 2.3 micrometer absorption tentatively identified as due to Fe/Mg smectite-bearing material. The top of the section is dominated by an areally extensive polyhydrated sulfate-bearing unit. Detailed results will be presented along with an analysis of the changing aqueous conditions inferred from the mineral associations.

  2. Distribution of late gadolinium enhancement in various types of cardiomyopathies: Significance in differential diagnosis, clinical features and prognosis

    PubMed Central

    Satoh, Hiroshi; Sano, Makoto; Suwa, Kenichiro; Saitoh, Takeji; Nobuhara, Mamoru; Saotome, Masao; Urushida, Tsuyoshi; Katoh, Hideki; Hayashi, Hideharu

    2014-01-01

    The recent development of cardiac magnetic resonance (CMR) techniques has allowed detailed analyses of cardiac function and tissue characterization with high spatial resolution. We review characteristic CMR features in ischemic and non-ischemic cardiomyopathies (ICM and NICM), especially in terms of the location and distribution of late gadolinium enhancement (LGE). CMR in ICM shows segmental wall motion abnormalities or wall thinning in a particular coronary arterial territory, and the subendocardial or transmural LGE. LGE in NICM generally does not correspond to any particular coronary artery distribution and is located mostly in the mid-wall to subepicardial layer. The analysis of LGE distribution is valuable to differentiate NICM with diffusely impaired systolic function, including dilated cardiomyopathy, end-stage hypertrophic cardiomyopathy (HCM), cardiac sarcoidosis, and myocarditis, and those with diffuse left ventricular (LV) hypertrophy including HCM, cardiac amyloidosis and Anderson-Fabry disease. A transient low signal intensity LGE in regions of severe LV dysfunction is a particular feature of stress cardiomyopathy. In arrhythmogenic right ventricular cardiomyopathy/dysplasia, an enhancement of right ventricular (RV) wall with functional and morphological changes of RV becomes apparent. Finally, the analyses of LGE distribution have potentials to predict cardiac outcomes and response to treatments. PMID:25068019

  3. Canine model of ischemic stroke with permanent middle cerebral artery occlusion: clinical features, magnetic resonance imaging, histopathology, and immunohistochemistry

    PubMed Central

    Jeon, Joon-Hyeok; Jung, Hae-Won; Jang, Hyo-Mi; Moon, Jong-Hyun; Park, Ki-Tae; Lee, Hee-Chun; Lim, Ha-Young; Sur, Jung-Hyang; Kang, Byeong-Teck; Ha, Jeongim

    2015-01-01

    The purpose of this study was to identify time-related changes in clinical, MRI, histopathologic, and immunohistochemical findings associated with ischemic stroke in dogs. Additionally, the association of cerebrospinal fluid (CSF) and tissue levels of interleukin (IL)-6 with clinical prognosis was assessed. Ischemic stroke was induced by permanent middle cerebral artery occlusion (MCAO) in nine healthy experimental dogs. The dogs were divided into three groups according to survival time and duration of the experimental period: group A (survived only 1 day), group B (1-week experimental period), and group C (2-week experimental period). Neurologic status was evaluated daily. Magnetic resonance imaging (MRI) was performed according to a predetermined schedule. Concentration of IL-6 in CSF was measured serially after ischemic stroke. Postmortem examination was performed for all experimental dogs. During histopathological examination, variable degrees of cavitation and necrosis due to neuronal cytopathic effects, such as pyknotic nuclei and cytoplasmic shrinkage, were observed on the affected side of the cerebral cortex in all dogs. Immunohistochemistry specific for IL-6 showed increased expression in the ischemic lesions. CSF IL-6 concentrations and ischemic lesion volumes 1 day after ischemic stroke were significantly higher in group A compared to groups B and C. PMID:25269716

  4. Comparison between Flail Arm Syndrome and Upper Limb Onset Amyotrophic Lateral Sclerosis: Clinical Features and Electromyographic Findings.

    PubMed

    Yoon, Byung-Nam; Choi, Seong Hye; Rha, Joung-Ho; Kang, Sa-Yoon; Lee, Kwang-Woo; Sung, Jung-Joon

    2014-09-01

    Flail arm syndrome (FAS), an atypical presentation of amyotrophic lateral sclerosis (ALS), is characterized by progressive, predominantly proximal, weakness of upper limbs, without involvement of the lower limb, bulbar, or respiratory muscles. When encountering a patient who presents with this symptomatic profile, possible diagnoses include upper limb onset ALS (UL-ALS), and FAS. The lack of information regarding FAS may make differential diagnosis between FAS and UL-ALS difficult in clinical settings. The aim of this study was to compare clinical and electromyographic findings from patients diagnosed with FAS with those from patients diagnosed with UL-ALS. To accomplish this, 18 patients with FAS and 56 patients with UL-ALS were examined. Significant differences were observed between the 2 groups pertaining to the rate of fasciculation, patterns of predominantly affected muscles, and the Medical Research Council scale of the weakest muscle. The presence of upper motor neuron signs and lower motor neuron involvement evidenced through electromyography showed no significant between-group differences. PMID:25258573

  5. Effects of amitriptyline and intra-oral device appliance on clinical and laser-evoked potentials features in chronic tension-type headache.

    PubMed

    de Tommaso, M; Shevel, E; Libro, G; Guido, M; Di Venere, D; Genco, S; Monetti, C; Serpino, C; Barile, G; Lamberti, P; Livrea, P

    2005-05-01

    In the present study, we examined clinical and laser-evoked potentials (LEP) features in two groups of chronic tension-type headache (CTTH) patients treated with two different approaches: intra-oral appliance of prosthesis, aiming to reduce muscular tenderness, and 10 mg daily amitriptyline. Eighteen patients suffering from CTTH (IHS, 2004) participated in the study. We performed a basal evaluation of clinical features and LEPs in all patients (T0) vs. 12 age- and sex-matched controls; successively, patients were randomly assigned to a two-month treatment by amitriptyline or intra-oral device appliance. The later LEPs, especially the P2 component, were significantly increased in amplitude in the CTTH group. Both the intra-oral prosthesis and amitriptyline significantly reduced headache frequency. Total Tenderness Score was significantly reduced in the group treated by the prosthesis. The amplitude of P2 response elicited by stimulation of pericranial zones showed a reduction after amitriptyline treatment. The results of this study may confirm that pericranial tenderness is primarily a phenomenon initiating a self-perpetuating circuit, favoured by central sensitisation at the level of the cortical nociceptive areas devoted to the attentive and emotive compounds of pain. Both the interventions at the peripheral and central levels may interrupt this reverberating circuit, improving the outcome of headache. PMID:15926017

  6. Mood instability is a common feature of mental health disorders and is associated with poor clinical outcomes

    PubMed Central

    Lloyd, Theodore; Jackson, Richard; Ball, Michael; Shetty, Hitesh; Broadbent, Matthew; Geddes, John R; Stewart, Robert; McGuire, Philip; Taylor, Matthew

    2015-01-01

    Objectives Mood instability is a clinically important phenomenon but has received relatively little research attention. The objective of this study was to assess the impact of mood instability on clinical outcomes in a large sample of people receiving secondary mental healthcare. Design Observational study using an anonymised electronic health record case register. Setting South London and Maudsley NHS Trust (SLaM), a large provider of inpatient and community mental healthcare in the UK. Participants 27?704 adults presenting to SLaM between April 2006 and March 2013 with a psychotic, affective or personality disorder. Exposure The presence of mood instability within 1?month of presentation, identified using natural language processing (NLP). Main outcome measures The number of days spent in hospital, frequency of hospital admission, compulsory hospital admission and prescription of antipsychotics or non-antipsychotic mood stabilisers over a 5-year follow-up period. Results Mood instability was documented in 12.1% of people presenting to mental healthcare services. It was most frequently documented in people with bipolar disorder (22.6%), but was common in people with personality disorder (17.8%) and schizophrenia (15.5%). It was associated with a greater number of days spent in hospital