Sample records for melas clinical features

  1. POLG1 mutations and stroke like episodes: a distinct clinical entity rather than an atypical MELAS syndrome

    PubMed Central

    2013-01-01

    Background POLG1 mutations have been associated with MELAS-like phenotypes. However given several clinical differences it is unknown whether POLG1 mutations are possible causes of MELAS or give raise to a distinct clinical and genetic entity, named POLG1-associated encephalopathy. Case presentation We describe a 74 years old man carrying POLG1 mutations presenting with strokes, myopathy and ragged red fibers with some atypical aspects for MELAS such as late onset, lack of cerebral calcification and presence of frontal and occipital MRI lesions better consistent with the POLG associated-encephalopathy spectrum. Conclusion The lack of available data hampers a definite diagnosis in our patient as well as makes it difficult to compare MELAS, which is a clearly defined clinical syndrome, with POLG1-associated encephalopathy, which is so far a purely molecularly defined syndrome with a quite heterogeneous clinical picture. However, the present report contributes to expand the phenotypic spectrum of POLG1 mutations underlining the importance of searching POLG1 mutations in patients with mitochondrial signs and MELAS like phenotypes but negative for common mtDNA mutations. PMID:23324391

  2. Thyroid Cancer - Featured Clinical Trials

    Cancer.gov

    Thyroid Cancer - Featured Clinical Trials The following list shows Featured Clinical Trials for a specific type of cancer. You may also want to view: Multiple Cancer Types - Featured Clinical Trials Supportive Care - Featured Clinical Trials

  3. Skin Cancer - Featured Clinical Trials

    Cancer.gov

    Skin Cancer - Featured Clinical Trials The following list shows Featured Clinical Trials for a specific type of cancer. You may also want to view: Multiple Cancer Types - Featured Clinical Trials Supportive Care - Featured Clinical Trials

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

    SciTech Connect

    Mezghani, Najla [Laboratoire de Genetique Moleculaire Humaine, Faculte de Medecine de Sfax, Universite de Sfax (Tunisia)] [Laboratoire de Genetique Moleculaire Humaine, Faculte de Medecine de Sfax, Universite de Sfax (Tunisia); Mnif, Mouna [Service d'endocrinologie, C.H.U. Habib Bourguiba de Sfax (Tunisia)] [Service d'endocrinologie, C.H.U. Habib Bourguiba de Sfax (Tunisia); Kacem, Maha [Service de Medecine interne, C.H.U. Fattouma Bourguiba de Monastir (Tunisia)] [Service de Medecine interne, C.H.U. Fattouma Bourguiba de Monastir (Tunisia); Mkaouar-Rebai, Emna, E-mail: emna_mkaouar@mail2world.com [Laboratoire de Genetique Moleculaire Humaine, Faculte de Medecine de Sfax, Universite de Sfax (Tunisia)] [Laboratoire de Genetique Moleculaire Humaine, Faculte de Medecine de Sfax, Universite de Sfax (Tunisia); Hadj Salem, Ikhlass [Laboratoire de Genetique Moleculaire Humaine, Faculte de Medecine de Sfax, Universite de Sfax (Tunisia)] [Laboratoire de Genetique Moleculaire Humaine, Faculte de Medecine de Sfax, Universite de Sfax (Tunisia); Kallel, Nozha; Charfi, Nadia; Abid, Mohamed [Service d'endocrinologie, C.H.U. Habib Bourguiba de Sfax (Tunisia)] [Service d'endocrinologie, C.H.U. Habib Bourguiba de Sfax (Tunisia); Fakhfakh, Faiza [Laboratoire de Genetique Moleculaire Humaine, Faculte de Medecine de Sfax, Universite de Sfax (Tunisia)] [Laboratoire de Genetique Moleculaire Humaine, Faculte de Medecine de Sfax, Universite de Sfax (Tunisia)

    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.

  5. Other Gastrointestinal Cancers - Featured Clinical Trials

    Cancer.gov

    Other Gastrointestinal Cancers - Featured Clinical Trials The following list shows Featured Clinical Trials for a specific type of cancer. You may also want to view: Multiple Cancer Types - Featured Clinical Trials Supportive Care - Featured Clinical

  6. 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.

  7. Sedimentary Rocks in Melas

    NASA Technical Reports Server (NTRS)

    2005-01-01

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

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

  8. Adrenal insufficiency in a child with MELAS syndrome.

    PubMed

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

    2014-11-01

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

  9. 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.

  10. Statins Provoking MELAS Syndrome

    Microsoft Academic Search

    Joseph E. Thomas; Nora Lee; Paul D. Thompson

    2007-01-01

    Background: Statins inhibit the production of 2,3-dimethoxy,5-methyl,6-polyisoprene parabenzoquinone also known as ubiquinone or coenzyme Q10 (CoQ10), which is required for mitochondrial electron transport. Idiopathic or primary CoQ10 deficiencies have been known to cause mitochondrial encephalomyopathy. Methods: We present the case of a patient with mitochondrial syndrome, consisting of mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (MELAS), whose symptoms were temporally

  11. Clinical features of Friedreich ataxia.

    PubMed

    Delatycki, Martin B; Corben, Louise A

    2012-09-01

    Friedreich ataxia, the most common hereditary ataxia, affects approximately 1 per 29,000 white individuals. In about 98% of these individuals, it is due to homozygosity for a GAA trinucleotide repeat expansion in intron 1 of FXN; in the other 2%, it is due to compound heterozygosity for a GAA expansion and point mutation or deletion. The condition affects multiple sites in the central and peripheral nervous system as well as a number of other organ systems, resulting in multiple signs and symptoms. Onset of this autosomal recessive condition is usually in the first 2 decades of life. Major clinical features include progressive ataxia, absent lower limb reflexes, upgoing plantar responses, and peripheral sensory neuropathy. The main nonneurological sites of morbidity are the heart, resulting in cardiomyopathy, and the pancreas, resulting in diabetes mellitus. In this review, we provide an overview of the clinical features of Friedreich ataxia and discuss differential diagnoses. PMID:22752493

  12. 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.

  13. 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.

  14. [Mitochondrial genome analysis in the probands of six Chinese families with MELAS].

    PubMed

    Liu, Li; Yuquan, Shao; Baorong, Zhang; Pingping, Jiang; Ailian, Du; Minxin, Guan

    2014-11-01

    Mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (MELAS) is a genetically heterogeneous disorder. The most prevalent mitochondrial DNA (mtDNA) mutation associated with MELAS is the m.3243A>G transition in the mitochondrial tRNA(Leu(UUR)) gene. Here, we report the clinical, genetic and molecular characterization of six probands from Han Chinese families with MELAS. Four of six probands carried the heteroplasmic m.3243A>G mutation. The levels of mutation load ranged from 29% to 59%, which were correlated with the severity of the clinical phenotypes. Two probands with MELAS/Leigh overlap were 3243 A>G negative, whose severity and relapse were greater than the other 4 probands. One proband with MELAS/Leigh harbored the known ND5 m.13094T>C mutation, which is related to MELAS/Leigh overlap and cerebella ataxia. Sequence analysis of entire mtDNA showed the distinct sets of variants including some variants that may be associated with diabetes, hearing loss, seizures, cardiomyopathy, and Leigh syndrome. Our data suggested that the phenotype and severity of MELAS mainly depend on the mutation load, and some variants may partially contribute to the phenotype and diversity. Our finding also highlighted the complexity of the relationship between genotype and phenotype in MELAS. PMID:25567874

  15. 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.

  16. Clinical features of taxane neuropathy.

    PubMed

    Kudlowitz, David; Muggia, Franco

    2014-05-01

    Sensory neuropathy is the dose-limiting toxicity of paclitaxel and also impacts on the use of docetaxel and other taxanes. The cause of this adverse effect has to do with their mechanism of action against microtubules and its interaction with neuronal cytoskeletal components. The variability of this toxicity is defined by several factors including disease type, taxane class, schedule and dose of the specific drug, patient demographics, and use of taxanes in combination regimens (especially with the platinums that are also neurotoxic). Prevention of life-long neuropathy is only produced if the causative drug is halted--treatments to reverse toxicity have shown only minimal improvement. This review investigates trials defining the clinical factors that determine the therapeutic window of taxanes and the enhanced susceptibility to this toxicity. In addition, case vignettes illustrate the range of clinical manifestations of this toxicity during taxane administration. PMID:24300917

  17. Layers in Melas Chasma

    NASA Technical Reports Server (NTRS)

    2006-01-01

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

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

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

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

  18. Vasodilatation of multiple cerebral arteries in early stage of stroke-like episode with MELAS.

    PubMed

    Minobe, Shoko; Matsuda, Akiko; Mitsuhashi, Tetsuya; Ishikawa, Motonao; Nishimura, Yoshiko; Shibata, Koichi; Ito, Eiichi; Goto, Yu-ichi; Nakaoka, Takashi; Sakura, Hiroshi

    2015-02-01

    We describe a patient with mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS), with multiple cerebral vasodilatations in a stroke-like episode visualised by using magnetic resonance angiography (MRA) and CT angiography (CTA). In the acute stroke-like episode stage, T2-weighted and fluid-attenuated inversion recovery MRI showed high-intensity areas in the left occipital area. In addition, MRA and CTA revealed prominent dilatation of the left posterior cerebral artery and temporal branches of the middle cerebral artery with focal hyperperfusions using CT perfusion (CTP) that corresponded to the MRI. After 10 days, with the development of aphasia, MRI indicated the lesions had spread to the temporal and parietal regions, and this distribution was not confined to major vascular territories. The patient's symptoms gradually improved, accompanied by the attenuation of MRI, CTA, and CTP findings. These characteristic features along with the MRI changes that spread beyond vascular boundaries and the multiple cerebral vasodilatations prior to the development of clinical symptoms are not fully explained by the mitochondrial angiopathy or cytopathy theories. These findings provide further evidence supporting neuronal hyperexcitability in stroke-like episodes of MELAS. PMID:25128282

  19. Familial occurrence of intestinal obstruction in children with the syndrome of mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS)

    Microsoft Academic Search

    Takashi Shimotake; Taizo Furukawa; Katsuhiro Inoue; Naomi Iwai; Yoshihiro Takeuchi

    1998-01-01

    The syndrome of mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS) is an uncommon neuromuscular disorder caused by mitochondrial dysfunctions that result in headaches, seizures, and progressive dementia. The authors describe a clinical case study of gastrointestinal manifestations in a pedigree with MELAS, in which all three children, ages 11, 8, and 6, demonstrated acute onset of intestinal obstruction. They

  20. Clinical features and neurologic progression of hyperargininemia.

    PubMed

    Carvalho, Daniel R; Brum, Jaime M; Speck-Martins, Carlos E; Ventura, Fabrício D; Navarro, Mônica M M; Coelho, Kátia E F A; Portugal, Dalton; Pratesi, Riccardo

    2012-06-01

    Hyperargininemia is an autosomal recessive metabolic disorder caused by a deficiency of enzyme arginase I. It is a rare pan-ethnic disease with a clinical presentation distinct from that of other urea cycle disorders, and hyperammonemic encephalopathy is not usually observed. Hyperargininemia is one of the few treatable causes of pediatric spastic paraparesis, and can be confused with cerebral palsy. We retrospectively evaluated the clinical onset, neurologic manifestations, progression of abnormalities, electroencephalographic abnormalities, and laboratory findings of 16 Brazilian patients with hyperargininemia. Relevant data about the clinical spectrum and natural history of hyperargininemia are detailed. Progressive spastic diplegia constituted the key clinical abnormality in this group, but variability in clinical presentation and progression were evident in our series. Seizures in hyperargininemia may be more common than reported in previous studies. Features distinguishing hyperargininemia from cerebral palsy and hereditary spastic paraplegia are emphasized in this large series of patients. PMID:22633632

  1. Spinal infections: clinical and imaging features.

    PubMed

    Arbelaez, Andres; Restrepo, Feliza; Castillo, Mauricio

    2014-10-01

    Spinal infections represent a group of rare conditions affecting vertebral bodies, intervertebral discs, paraspinal soft tissues, epidural space, meninges, and spinal cord. The causal factors, clinical presentations, and imaging features are a challenge because the difficulty to differentiate them from other conditions, such as degenerative and inflammatory disorders and spinal neoplasm. They require early recognition because delay diagnosis, imaging, and intervention may have devastating consequences especially in children and the elderly. This article reviews the most common spinal infections, their pathophysiologic, clinical manifestation, and their imaging findings. PMID:25296275

  2. Clinical features of symptomatic patellofemoral joint osteoarthritis

    PubMed Central

    2012-01-01

    Introduction Patellofemoral joint osteoarthritis (OA) is common and leads to pain and disability. However, current classification criteria do not distinguish between patellofemoral and tibiofemoral joint OA. The objective of this study was to provide empirical evidence of the clinical features of patellofemoral joint OA (PFJOA) and to explore the potential for making a confident clinical diagnosis in the community setting. Methods This was a population-based cross-sectional study of 745 adults aged ?50 years with knee pain. Information on risk factors and clinical signs and symptoms was gathered by a self-complete questionnaire, and standardised clinical interview and examination. Three radiographic views of the knee were obtained (weight-bearing semi-flexed posteroanterior, supine skyline and lateral) and individuals were classified into four subsets (no radiographic OA, isolated PFJOA, isolated tibiofemoral joint OA, combined patellofemoral/tibiofemoral joint OA) according to two different cut-offs: 'any OA' and 'moderate to severe OA'. A series of binary logistic and multinomial regression functions were performed to compare the clinical features of each subset and their ability in combination to discriminate PFJOA from other subsets. Results Distinctive clinical features of moderate to severe isolated PFJOA included a history of dramatic swelling, valgus deformity, markedly reduced quadriceps strength, and pain on patellofemoral joint compression. Mild isolated PFJOA was barely distinguished from no radiographic OA (AUC 0.71, 95% CI 0.66, 0.76) with only difficulty descending stairs and coarse crepitus marginally informative over age, sex and body mass index. Other cardinal signs of knee OA - the presence of effusion, bony enlargement, reduced flexion range of movement, mediolateral instability and varus deformity - were indicators of tibiofemoral joint OA. Conclusions Early isolated PFJOA is clinically manifest in symptoms and self-reported functional limitation but has fewer clear clinical signs. More advanced disease is indicated by a small number of simple-to-assess signs and the relative absence of classic signs of knee OA, which are predominantly manifestations of tibiofemoral joint OA. Confident diagnosis of even more advanced PFJOA may be limited in the community setting. PMID:22417687

  3. Mapping the Kumbh Mela: Report from the Harvard University Team Studying the Kumbh Mela

    E-print Network

    Liu, X. Shirley

    , environmental science and public health, technology and communications. Religion and the Humanities: Professor topics included: the ritual use of flowers and their environmental impact at the Kumbh Mela; diversity faith and science; religious performances at the Kumbh Mela, including lilas or playfulness, as part

  4. Intravoxel incoherent motion magnetic resonance imaging findings in the acute phase of MELAS: a case report

    PubMed Central

    Uehara, Ryuji; Yamashita, Koji; Hiwatashi, Akio; Togao, Osamu; Kikuchi, Kazufumi; Yokoyama, Jun; Matsuse, Dai; Yoshiura, Takashi; Honda, Hiroshi

    2014-01-01

    Objective We report the clinical application of intravoxel incoherent motion (IVIM) magnetic resonance (MR) imaging to diagnose a case of mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) in the acute phase. Results On IVIM MR Images of this patient, higher perfusion (f) and diffusion (D) values in the left occipital and temporal lobes were found compared to the contralateral areas. Conclusion These findings imply a breakdown of autoregulation with hyperperfusion and vasogenic edema during the acute phase of MELAS, as described in previous reports. IVIM imaging is a valuable, noninvasive tool that simultaneously quantifies perfusion and diffusion parameters. PMID:25365795

  5. 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

  6. Clinical features and electrodiagnosis of ulnar neuropathies.

    PubMed

    Landau, Mark E; Campbell, William W

    2013-02-01

    In this review, we delineate clinical, electrodiagnostic, and radiographic features of ulnar mononeuropathies. Ulnar neuropathy at the elbow (UNE) is most commonly due to lesions at the level of the retroepicondylar groove (RTC), with approximately 25% at the humeroulnar arcade (HUA). The term 'cubital tunnel syndrome' should be reserved for the latter. The diagnostic accuracy of nerve conduction studies is limited by biological (e.g. low elbow temperature) and technical factors. Across-elbow distance measurements greater than 10 cm improve diagnostic specificity at the expense of decreased sensitivity. Short-segment incremental studies can differentiate lesions at the HUA from those at the RTC. PMID:23177030

  7. Uterine sarcomas: clinical presentation and MRI features.

    PubMed

    Santos, Pedro; Cunha, Teresa Margarida

    2015-01-01

    Uterine sarcomas are a rare heterogeneous group of tumors of mesenchymal origin, accounting for approximately 8% of uterine malignancies. They comprise leiomyosarcoma, endometrial stromal sarcoma, undifferentiated endometrial sarcoma, and adenosarcoma. Compared with the more common endometrial carcinomas, uterine sarcomas behave more aggressively and are associated with a poorer prognosis. Due to their distinct clinical and biological behavior, the International Federation of Gynecology and Obstetrics introduced a new staging system for uterine sarcomas in 2009, categorizing uterine carcinosarcoma as a variant of endometrial carcinoma, rather than a pure sarcoma. Magnetic resonance imaging (MRI) has a developing role in the assessment of these malignancies. Features such as tumor localization, irregular or nodular margins, necrosis, rapid growth, intense contrast enhancement, and restriction at diffusion-weighted imaging can suggest the diagnosis and help differentiate from more common leiomyomas and endometrial carcinoma. MRI is therefore extremely useful in preoperative detection and staging and, consequently, in determination of appropriate management. This pictorial review aims to discuss the clinical features of uterine sarcomas, as well as their most common appearances and distinct characteristics in MRI. PMID:25347940

  8. Clinical features of elderly chronic urticaria

    PubMed Central

    Ban, Ga-Young; Kim, Mi-Yea; Yoo, Hye-Soo; Nahm, Dong-Ho; Ye, Young-Min; Shin, Yoo-Seob

    2014-01-01

    Background/Aims Chronic urticaria (CU) is defined as itchy wheals lasting 6 weeks or more. As the aged population increases worldwide, it is essential to identify the specific features of this disease in the elderly population. Methods We investigated the prevalence and clinical features of CU in elderly patients. Medical records of 837 CU patients from the outpatient Allergy Clinic of Ajou University Hospital, Korea were analyzed retrospectively. Patients with chronic spontaneous urticaria according to the EAACI/GA2LEN/EDF/WAO guidelines were included. Patients older than 60 years were defined as elderly. Results Of the 837 patients, 37 (4.5%) were elderly. In elderly versus nonelderly CU patients, the prevalence of atopic dermatitis (AD) was significantly higher (37.8% vs. 21.7%, respectively; p = 0.022), while that of aspirin intolerance was lower (18.9% vs. 43.6%, respectively; p = 0.003) in terms of comorbid conditions. The prevalences of serum specific immunoglobulin E antibodies to staphylococcal enterotoxin A and staphylococcal enterotoxin B were considerably higher in elderly CU patients with AD than in those without AD (37.5% vs. 0%, respectively). Conclusions Elderly patients with CU had a higher prevalence of AD. Therefore, there is a need to recognize the existence of AD in elderly CU patients. PMID:25378979

  9. Clinical and pathological features of pachyonychia congenita.

    PubMed

    Leachman, Sancy A; Kaspar, Roger L; Fleckman, Philip; Florell, Scott R; Smith, Frances J D; McLean, W H Irwin; Lunny, Declan P; Milstone, Leonard M; van Steensel, Maurice A M; Munro, Colin S; O'Toole, Edel A; Celebi, Julide T; Kansky, Aleksej; Lane, E Birgitte

    2005-10-01

    Pachyonychia congenita (PC) is a rare genodermatosis affecting the nails, skin, oral mucosae, larynx, hair, and teeth. Pathogenic mutations in keratins K6a or K16 are associated with the PC-1 phenotype whereas K6b and K17 mutations are associated with the PC-2 phenotype. Analysis of clinical, pathological, and genetic data from the literature and two research registries reveal that >97% of PC cases exhibit fingernail and toenail thickening, and painful plantar keratoderma. Prospective evaluation of 57 PC patients from 41 families revealed variable clinical findings: hyperhidrosis (79%), oral leukokeratosis (75%), follicular keratosis (65%), palmar keratoderma (60%), cutaneous cysts (35%), hoarseness or laryngeal involvement (16%), coarse or twisted hair (26%), early primary tooth loss (14%), and presence of natal or prenatal teeth (2%). Stratification of these data by keratin mutation confirmed the increased incidence of cyst formation and natal teeth among PC-2 patients, although cysts were more commonly seen in PC-1 than previously reported (25%-33%). Previously unreported clinical features of PC include development of painful oral and nipple lesions during breastfeeding, copious production of waxy material in ears, and inability to walk without an ambulatory aid (50%). Possible pathogenic mechanisms are discussed with respect to the clinicopathologic and genetic correlations observed. PMID:16250204

  10. Clinical Features that Distinguish Psychogenic and Essential Tremor

    E-print Network

    Lichtarge, Olivier

    Clinical Features that Distinguish Psychogenic and Essential Tremor Christopher Kenney, MD, Alan ABSTRACTABSTRACT OBJECTIVE: To seek clinical features that reliably distinguish psychogenic tremor (PT) from essential tremor (ET). BACKGROUND: PT is often manifested by shaking characterized by variable amplitude

  11. Ophthalmic molluscum contagiosum: clinical and immunopathological features.

    PubMed Central

    Charteris, D G; Bonshek, R E; Tullo, A B

    1995-01-01

    AIMS--A study of ophthalmic molluscum contagiosum infection was undertaken to define its clinical presentation and immunopathological features. METHODS--Retrospective analysis of 35 cases of histologically proved molluscum contagiosum infection was carried out. Diagnosis was delayed in 40% of cases resulting in repeated clinic visits. RESULTS--Twenty one patients were noted to have ocular surface changes; two patients were immunocompromised. All cases were eventually treated by excision of the lesion (19 had cautery to the lesion base) and there was recurrence in two cases. Immunohistochemical analysis of biopsy specimens showed that T lymphocytes were a consistent finding in adjacent dermis and epidermis although they did not infiltrate the molluscum lesions. Smaller numbers of macrophages were also demonstrated. There was a notable cross reactivity by a T cell antibody to the molluscum bodies. CONCLUSION--The study shows the varied presentation of molluscum contagiosum infection to the ophthalmologist and the nature of the local immune response to the virus. Images PMID:7612562

  12. CLINICAL AND IMAGING FEATURES OF OTHELLO'S SYNDROME

    PubMed Central

    Graff-Radford, Jonathan; Whitwell, Jennifer L.; Geda, Yonas E.; Josephs, Keith A.

    2011-01-01

    Background Our objective was to document the clinical and imaging features of Othello's syndrome (delusional jealousy). Methods The study design was a retrospective case series of 105 patients with Othello's syndrome that were identified by using the Electronic Medical Record system of Mayo Clinic. Results The average age at onset of Othello's syndrome was 68 (25–94) years with 61.9% of patients being male. Othello's syndrome was most commonly associated with a neurological disorder (73/105) compared with psychiatric disorders (32/105). Of the patients with a neurological disorder, 76.7% had a neurodegenerative disorder. Seven of eight patients with a structural lesion associated with Othello's syndrome had right frontal lobe pathology. Voxel-based morphometry showed greater grey matter loss predominantly in the dorsolateral frontal lobes in the neurodegenerative patients with Othello's compared to matched patients with neurodegenerative disorders without Othello's syndrome. Treatment success was notable for patients with dopamine agonist induced Othello's syndrome in which all six patients had improvement in symptoms following decrease in medication. Conclusions This study demonstrates that Othello's syndrome occurs most frequently with neurological disorders. This delusion appears to be associated with dysfunction of the frontal lobes, especially right frontal lobe. PMID:21518145

  13. Clinical Features of Immediate Hypersensitivity to Isopropylantipyrine

    PubMed Central

    Hwang, Eui-Kyung; Nam, Young-Hee; Jin, Hyun Jung; Shin, Yoo Seob; Ye, Young-Min

    2013-01-01

    Hypersensitivities induced by isopropylantipyrine (IPA), a pyrazolone derivative within the wider family of non-steroidal anti-inflammatory drugs (NSAIDs), are rarely reported. We characterized the clinical features of 12 patients with IPA-induced hypersensitivity. Twelve patients with immediate hypersensitivity to IPA were enrolled and classified into two groups: group I, consisting of eight patients (66.7%) with selective hypersensitivity; and group II, consisting of four patients (33.3%) showing cross-intolerance to other NSAIDs. Skin prick and intradermal and oral provocation tests with IPA were performed. To confirm selective hypersensitivity, an aspirin oral provocation test was also conducted. The most common manifestations were cutaneous reactions (91.7%), followed by anaphylaxis (66.7%), respiratory (41.7%), ocular (16.7%), and gastrointestinal reactions (16.7%). The median age and the median age at onset were 34.5 (range, 23-55) years and 28.0 (range, 7-47) years, respectively. In both groups I and II, all patients showed negative responses to skin prick testing, whereas only two patients in group I were positive in response to intradermal IPA tests. The response time after drug exposure was shorter in group I than in group II. Here, we report on two types of IPA hypersensitivity: selective and cross-intolerant NSAID hypersensitivity. An immediate IgE-mediated reaction may be involved in patients with selective hypersensitivity, whereas a cyclooxygenase-1-related inhibition mechanism may be a responsible mechanism for the patients with cross-intolerance to multiple NSAIDs. PMID:23277879

  14. Melas Chasma in IR Color

    NASA Technical Reports Server (NTRS)

    2004-01-01

    [figure removed for brevity, see original site]

    Released August 11, 2004 This image shows two representations of the same infra-red image over Melas Chasma. On the left is a grayscale image showing surface temperature, and on the right is a false-color composite made from 3 individual THEMIS bands. The false-color image is colorized using a technique called decorrelation stretch (DCS), which emphasizes the spectral differences between the bands to highlight compositional variations.

    There is a distinct purple/blue layer present in the northern wall of the Chasma. Although this layer likely has a composition different than the surrounding areas, it is difficult to interpret its specific composition due to the high variability of sunlit and shaded surfaces in this area, which cause a wide range of temperatures to be present within each pixel of the image. It is possible that this layer has a unique composition due to differences in the volcanic or sedimentary environment at the time that the rock formed, or it could be a layer of magma injected between two previously existing rock layers. Another possibility is that the wall is mostly covered by dust and debris, and this portion contains the only exposed bedrock. The light blue colors present in many other areas of the Chasma are due to water ice clouds.

    Image information: IR instrument. Latitude -8.9, Longitude 282 East (78 West). 100 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.

  15. 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…

  16. Clinical and laboratory features of Mycobacterium porcinum.

    PubMed

    Wallace, Richard J; Brown-Elliott, Barbara A; Wilson, Rebecca W; Mann, Linda; Hall, Leslie; Zhang, Yansheng; Jost, Kenneth C; Brown, June M; Kabani, Amin; Schinsky, Mark F; Steigerwalt, Arnold G; Crist, Christopher J; Roberts, Glenn D; Blacklock, Zeta; Tsukamura, Michio; Silcox, Vella; Turenne, Christine

    2004-12-01

    Recent molecular studies have shown Mycobacterium porcinum, recovered from cases of lymphadenitis in swine, to have complete 16S rDNA sequence identity and >70% DNA-DNA homology with human isolates within the M. fortuitum third biovariant complex. We identified 67 clinical and two environmental isolates of the M. fortuitum third biovariant sorbitol-negative group, of which 48 (70%) had the same PCR restriction enzyme analysis (PRA) profile as the hsp65 gene of M. porcinum (ATCC 33776(T)) and were studied in more detail. Most U.S. patient isolates were from Texas (44%), Florida (19%), or other southern coastal states (15%). Clinical infections included wound infections (62%), central catheter infections and/or bacteremia (16%), and possible pneumonitis (18%). Sequencing of the 16S rRNA gene (1,463 bp) showed 100% identity with M. porcinum ATCC 33776(T). Sequencing of 441 bp of the hsp65 gene showed four sequevars that differed by 2 to 3 bp from the porcine strains. Clinical isolates were positive for arylsulfatase activity at 3 days, nitrate, iron uptake, D-mannitol, i-myo-inositol, and catalase at 68 degrees C. They were negative for L-rhamnose and D-glucitol (sorbitol). Clinical isolates were susceptible to ciprofloxacin, sulfamethoxazole, and linezolid and susceptible or intermediate to cefoxitin, clarithromycin, imipenem, and amikacin. M. porcinum ATCC 33776(T) gave similar results except for being nitrate negative. These studies showed almost complete phenotypic and molecular identity between clinical isolates of the M. fortuitum third biovariant D-sorbitol-negative group and porcine strains of M. porcinum and confirmed that they belong to the same species. Identification of M. porcinum presently requires hsp65 gene PRA or 16S rRNA or hsp65 gene sequencing. PMID:15583300

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

    PubMed

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

    2015-03-13

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

  18. Clinical Features and Outcome of Mucormycosis

    PubMed Central

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

    2014-01-01

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

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

    PubMed

    Zawilska, Jolanta B; Woldan-Tambor, Agata; P?ocka, Anna; Ku?ajska, Katarzyna; Wojcieszak, Jakub

    2012-01-01

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

  20. Clinical features of late-onset idiopathic aqueductal stenosis

    Microsoft Academic Search

    Toru Fukuhara; Mark G Luciano

    2001-01-01

    BACKGROUNDAlthough late-onset idiopathic aqueductal stenosis (LIAS) is considered a good indication for endoscopic third ventriculostomy (ETV), the characteristics of this clinical entity have seldom been reported in the magnetic resonance (MR) imaging era. The authors reviewed their patients with LIAS who were treated by ETV to confirm its clinical features and response to treatment.METHODSThe study group was composed of 31

  1. Adrenal histoplasmosis: clinical presentation and imaging features in nine cases

    Microsoft Academic Search

    N. Kumar; S. Singh; S. Govil

    2003-01-01

    Background: We describe a retrospective analysis of the clinical presentation and imaging features in nine patients with adrenal histoplasmosis in nonimmunocompromised patients from a nonendemic region. Methods: Clinically, a tuberculosis-like presentation in four patients and a tumor-like presentation in five patients were seen. All patients were seronegative for the human immunodeficiency virus. Ultrasound (US) in all patients, computed tomography (CT)

  2. Epilepsy in Rett syndrome: Clinical and genetic features

    Microsoft Academic Search

    Maria Pintaudi; Maria Grazia Calevo; Aglaia Vignoli; Elena Parodi; Francesca Aiello; Maria Giuseppina Baglietto; Yussef Hayek; Sabrina Buoni; Alessandra Renieri; Silvia Russo; Francesca Cogliati; Lucio Giordano; MariaPaola Canevini; Edvige Veneselli

    2010-01-01

    Epilepsy often occurs in Rett syndrome and is considered a major problem. The aim of this study was to define the clinical features of epilepsy and the correlation between seizures and both genotype and clinical phenotype in the Rett population. One hundred sixty-five patients with Rett syndrome referred to four Italian centers were recruited. All patients underwent video\\/EEG monitoring and

  3. Exfoliation syndrome: clinical and genetic features.

    PubMed

    Orr, A C; Robitaille, J M; Price, P A; Hamilton, J R; Falvey, D M; De Saint-Sardos, A G; Pasternak, S; Guernsey, D L

    2001-09-01

    We have ascertained a large number of individuals and families with exfoliation syndrome in order to clarify the disorder's mode of inheritance. Patients with exfoliation syndrome and their relatives were recruited from the practices of a group of ophthalmologists in Maritime Canada. The degree to which the subjects were affected was graded according to a standardized 1-4-point clinical scheme. Pedigrees were constructed from information supplied by family members and from genealogical sources. A total of 782 patients and relatives participated, of whom 467 were definitely affected. The mean age of affected males and females did not differ significantly, but females appeared to be more severely affected at ascertainment than males. More than half of the affected subjects had definite exfoliation in only one eye. Approximately 30 multiplex families were discovered, including one containing 23 affected members among a total of 137 examined individuals that constitutes the largest exfoliative pedigree thus far described. We observed well-documented paternal transmission of the trait, a finding that has not to our knowledge been previously reported. Clustering of cases in the families provides evidence for the involvement of genetic factors. The possibility of homozygosity is suggested in a few patients by the earlier or more frequent presentation of the disorder in the offspring of two affected parents or consanguineous pairings. Although a multifactorial mode of inheritance cannot be excluded, exfoliation syndrome appears to be inherited as an autosomal dominant trait whose late onset and incomplete penetrance poses a significant but not insuperable obstacle to pedigree construction. PMID:11559859

  4. Clinical features of actinic keratoses and early squamous cell carcinoma.

    PubMed

    Wheller, Laura; Soyer, H Peter

    2015-01-01

    Clinically, there is a continuum between actinic keratosis, intraepidermal carcinoma (also known as squamous cell carcinoma in situ) and early squamous cell carcinoma that makes a reliable distinction between these entities extremely difficult. Each of the lesions in this continuum can be quite variable in clinical appearance, and there are often no clear distinguishing features, making it difficult to determine whether an individual actinic keratosis has evolved into intraepidermal carcinoma or invasive squamous cell carcinoma. PMID:25561207

  5. Correlation of Clinical Features with Argyrophilic Grains at Autopsy

    PubMed Central

    Sabbagh, Marwan N.; Sandhu, Sonny S.; Farlow, Martin R.; Vedders, Linda; Shill, Holly A.; Caviness, John N.; Connor, Donald J; Sue, Lucia; Adler, Charles H.; Beach, Thomas G.

    2009-01-01

    Argyrophilic grains (AGs) are a pathologic feature found in association with neurodegenerative disease. Some have suggested that these features may occur as a distinctive condition. We reviewed 80 subjects from our tissue bank with pathologically confirmed AGs and identified their clinical features. We compared these subjects' features to the features of subjects with matched clinical diagnoses but without AGs. Subjects with AGs represented 21.7% of the entire autopsy sample from 1999 through 2005 (80/367). Of AD subjects, 43 /233 had AGs (18.4% of AD subjects); 11 /42 PD-D subjects had AGs (26.1% of PDD subjects); 2 / 9 DLB subjects had AGs (22.2% of DLB subjects); 4 /15 MCI subjects had AGs (26.7% of MCI subjects); and 20 /68 cognitively normal subjects had AGs (29.4% of NC). Subjects with AGs tended to be older but only significantly so in AD. Many co-morbid non-neurological health conditions were seen in cases of AGs without any single predilection emerging. AGs occur in approximately 22% of the entire autopsy cohort and likely are associated with advanced age. No distinctive antemortem clinical features were overrepresented in the AG cases. AGs can occur with or without neurodegenerative conditions and can occur in the absence of significant cognitive decline. AGs are not clearly associated with any single co-morbid health condition. PMID:19812464

  6. Clinical and Endoscopic Features of Eosinophilic Esophagitis in Adults

    Microsoft Academic Search

    John Croese; Stephen K. Fairley; John W. Masson; André K. H. Chong; David A. Whitaker; Peter A. Kanowski; Neal I. Walker

    2003-01-01

    BackgroundEosinophilic esophagitis in adults is regarded as unusual, being diagnosed mostly in young men presenting with dysphagia. Mucosal furrows are a sentinel endoscopic feature. This study examined the demographic and clinical profile of adults with eosinophilic esophagitis seen from 1981 to 2002.

  7. Clinical features of patients showing Candida hypersensitivity: an observational study

    Microsoft Academic Search

    R Asero; G Bottazzi

    Background: The significance of Candida albicans as an allergen is still unclear. This study aimed at investigating the clinical features of patients monosensitized to Candida. Methods: Thirty-four adult patients monosensitized to the yeast Candida albicans selected from a population of >7000 subjects and referred for suspect respiratory allergy were studied. Ninety subjects monosensitized to different airborne allergens served as controls.

  8. Diffuse Infiltrative Lesion of the Breast: Clinical and Radiologic Features

    PubMed Central

    An, Yeong Yi; Cha, Eun Suk; Kim, Hyeon Sook; Kang, Bong Joo; Park, Chang Suk; Jung, Na Young; Whang, In Yong; Yoon, Soo Kyung

    2011-01-01

    The purpose of this paper is to show the clinical and radiologic features of a variety of diffuse, infiltrative breast lesions, as well to review the relevant literature. Radiologists must be familiar with the various conditions that can diffusely involve the breast, including normal physiologic changes, benign disease and malignant neoplasm. PMID:21228947

  9. Clinical features of 46 eyes with calcified hydrogel intraocular lenses

    Microsoft Academic Search

    Alexis Ka Fai Yu; Kenneth Yan Wing Kwan; David Ho Yin Chan; Daniel Yee Tak Fong

    2001-01-01

    Purpose: To clarify the clinical features of delayed calcification of hydrogel intraocular lenses (IOLs) based on observation of a large case series.Setting: Ophthalmology department of 2 university teaching hospitals, Hong Kong, China.Methods: The first 44 patients with a known diagnosis of calcified IOL were recruited. Medical and ophthalmic histories were obtained. Surgical details, surgical complications, and visual acuity before and

  10. Clinical, ultrasonographic and pathological features following unilateral vasectomy in rams

    Microsoft Academic Search

    Pagona G. Gouletsou; Apostolos D. Galatos; George C. Fthenakis

    2008-01-01

    The effects of vasectomy on testes and related structures of animal species and men are largely disputable. These possible effects were studied in the ram, an established experimental animal model used to investigate genitalia pathophysiology. In each of five rams, vasectomy in the left spermatic cord was carried out; subsequently, the clinical and ultrasonographic features were monitored up to 12

  11. Clinical features in patients with excessive perineal descent.

    PubMed

    Mackle, E J; Parks, T G

    1989-04-01

    We have found excessive perineal descent to be associated with a variety of anorectal problems and have reviewed the clinical features in 29 patients who were noted to have excessive perineal descent as measured by perineometer. The condition mostly occurs in women and is usually associated with straining at stool, rectal bleeding, mucus discharge, perineal or abdominal pain and urinary incontinence. PMID:2724218

  12. EPIDEMIOLOGY AND CLINICAL FEATURES OF ATOPIC DERMATITIS IN INDIA

    PubMed Central

    Kanwar, Amrinder J; De, Dipankar

    2011-01-01

    Literature on atopic dermatitis (AD) has experienced a spurt in the recent years with interest on genetics, immunology, pathogenesis, psychological impact, development of newer more effective and safer treatment agents. Indian literature on AD is limited, probably due to lower prevalence, and milder disease. In this review, we have discussed the Indian literature on epidemiology and clinical features of AD. PMID:22121256

  13. 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…

  14. Clinical features associated with impulse control disorders in Parkinson disease.

    PubMed

    Pontone, Gregory; Williams, James R; Bassett, Susan Spear; Marsh, Laur

    2006-10-10

    In patients with Parkinson disease (PD), impulse control disorders (ICDs) such as hypersexuality and pathologic gambling and shopping can be devastating complications of antiparkinsonian treatment. To improve their detection, we investigated clinical features associated with ICDs. Subjects were participants in a longitudinal study of PD. ICDs were associated with use of dopamine agonists and depressed mood, disinhibition, irritability, and appetite disturbance. PMID:17030761

  15. Clinical features of probable Moyamoya disease in Japan

    Microsoft Academic Search

    Kiyonobu Ikezaki; Takanori Inamura; Teruaki Kawano; Masashi Fukui

    1997-01-01

    To clarify the current clinical features of probable Moyamoya disease in Japan, 180 cases were analyzed based on the cases collected by the Research Committee on Spontaneous Occlusion of the Circle of Willis of the Ministry of Health and Welfare, Japan. Although the age distribution patterns of probable Moyamoya disease showed two peaks similar to that of definite cases, the

  16. Clinical Features of Young-onset Parkinson' s Disease

    Microsoft Academic Search

    Eun Kyoung Cho; Myung Sik Lee

    Background : The term 'young-onset Parkinson's disease (YOPD)' refers to patients who have developed parkison - ian symptoms or signs between the ages of 21 and 40, and the term 'old onset Parkinson's disease (OOPD)' refers to those with onset after the age of 65. Patients with YOPD may show clinical features different from those with OOPD. Methods : We

  17. Clinical Features and Revised Diagnostic Criteria in Joubert Syndrome

    Microsoft Academic Search

    Bernard L. Maria; Eugen Boltshauser; Scott C. Palmer; Thang X. Tran

    1999-01-01

    The clinical presentation of children with Joubert syndrome can include nonspecific features such as hypotonia, ataxia, and developmental delay. Careful examination of the face shows a characteristic appearance, and a neuro-ophthalmologic examination shows the presence of oculomotor apraxia. In the neonatal period, most children have hyperpnea intermixed with central apnea. Neuroimaging of the head in the axial plane demonstrates the

  18. Clinical features and prognostic factors in adults with bacterial meningitis

    Microsoft Academic Search

    Diederik van de Beek; Jan de Gans; Lodewijk Spanjaard; Martijn Weisfelt; Johannes B. Reitsma; Marinus Vermeulen

    2004-01-01

    background We conducted a nationwide study in the Netherlands to determine clinical features and prognostic factors in adults with community-acquired acute bacterial meningitis. methods From October 1998 to April 2002, all Dutch patients with community-acquired acute bacterial meningitis, confirmed by cerebrospinal fluid cultures, were prospectively eval- uated. All patients underwent a neurologic examination on admission and at discharge, and outcomes

  19. Hairy cell leukemia: clinical features and therapeutic advances

    Microsoft Academic Search

    Barry C. Lembersky; Harvey M. Golomb

    1987-01-01

    Hairy cell leukemia (HCL) is a rare chronic lymphoproliferative disorder which has been extensively studied over the past decade. Much has been learned regarding the diagnosis, natural history, biology, and treatment of this unique neoplasm. The disease most commonly affects middle aged men and characteristic clinical features include splenomegaly, cytopenias, and usually the presence in the peripheral blood of distinctive

  20. Rapidly Involuting Congenital Hemangioma: Clinical and Histopathologic Features

    Microsoft Academic Search

    Beatriz Berenguer; John B. Mulliken; Odile Enjolras; Lawrence M. Boon; Michel Wassef; Patrice Josset; Patricia E. Burrows; Antonio R. Perez-Atayde; Harry P. W. Kozakewich

    2003-01-01

    We define the histopathologic findings and review the clinical and radiologic characteristics of rapidly involuting congenital hemangioma (RICH). The features of RICH are compared to the equally uncommon noninvoluting congenital hemangioma (NICH) and common infantile hemangioma. RICH and NICH had many similarities, such as appearance, location, size, and sex distribution. The obvious differences in behavior served to differentiate RICH, NICH,

  1. Long Range View of Melas Chasma

    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. Landslides flowed over 100 kilometers (62 miles) across the floor of Melas Chasma. They produced deposits with ridges and grooves of alternating warm and cold materials that can still be seen. The temperature differences in this image 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 B and 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.

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

    PubMed Central

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

    2015-01-01

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

  3. Clinical and diagnostic features and treatment of giardiasis.

    PubMed

    2014-11-01

    Giardia is the most common causes of protozoan diarrhea that lead to significant morbidity and mortality worldwide. Giardiasis can be cause of disturbance of host immune response. The treatment of Giardiasis is unsuccessful in some cases. The purpose of this study was to determine the clinical features and the content of secretory immunoglobulin A (sIgA) among adults and to evaluate efficiency of new plant preparation "Sausalin". The clinical studies were conducted in Karaganda Regional Infection Hospital (Kazakhstan). 250 patients with giardiasis were randomly assigned to receive sausalin at a dose 720 mg/day or ornidazole at 1500 mg/day. Clinical symptoms of giardisis and efficiency of treatment were evaluated. Protozoal clearance rate and clinical symptoms were assessed. Stool samples were collected from 40 patients and examined the content of sIgA. Our study found the prevalence of abdominal pain, dyspeptic syndrome and the symptoms of intoxication in patients with giardiasis. The increase the level of sIgA was detected, especially in females (88 mg/l). Sausalin was more effectiveness than ornidazole. After the treatment, the clearance rate of giardia (85.71% vs. 42.19%; P<0.05) and the clinical efficacy were significantly higher in the sausalin-treated group than in the ornidazole-treated group. The features of clinic manifestations of giardiasis were identified in population of Kazakhstan. Our data suggest the higher level of sIgA was significantly associated with features of clinic manifestations that the participant had. Treatment with sausalin was more effective than treatment with ornidazole. Further research is needed to explain the existence relationship between Giardia infection and host immune response. PMID:25541827

  4. Habitat use of an artificial wetland by the invasive catfish Ameiurus melas

    E-print Network

    Cucherousset, Julien

    Letter Habitat use of an artificial wetland by the invasive catfish Ameiurus melas Introduction bullhead [Ameiurus melas (Rafin- esque)], which was introduced into France from North America in 1871 JD. Habitat use of an artificial wetland by the invasive catfish Ameiurus melas. Ecology

  5. First record of Ameiurus melas (Siluriformes, Ictaluridae) in the Alqueva reservoir, Guadiana basin (Portugal)

    E-print Network

    Marques, Tiago A.

    First record of Ameiurus melas (Siluriformes, Ictaluridae) in the Alqueva reservoir, Guadiana basin and Environmental Modelling, St Andrews, SCOTLAND. R�SUM�. - Premier signalement de Ameiurus melas (Siluri- formes février 2002, créant ainsi un nouvel habitat approprié pour Ameiurus melas. Afin de confirmer et d

  6. Habitat use of an artificial wetland by the invasive catfish Ameiurus melas

    Microsoft Academic Search

    J. Cucherousset; J.-M. Paillisson; A. Carpentier; M.-C. Eybert; J. D. Olden

    2006-01-01

    This study examined the distribution and habitat selection of the invasive black bullhead (Ameiurus melas (Rafinesque)) in the ditches and surrounded temporary flooded habitats of an artificial wetland in western France. A multiscale approach was used to quantify patterns of A. melas abundance in relation to physical habitat characteristics in the ditch network. Young-of-the-year (YOY) and adult A. melas largely

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

    E-print Network

    Grotzinger, John P.

    Sublacustrine 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. The western fan complex is located near the center of an enclosed basin in southwest Melas Chasma

  8. Psoriasis: epidemiology, clinical features, and quality of life

    PubMed Central

    Langley, R; Krueger, G; Griffiths, C

    2005-01-01

    Psoriasis is a common chronic, recurrent, immune mediated disease of the skin and joints. It can have a significant negative impact on the physical, emotional, and, psychosocial wellbeing of affected patients. Psoriasis is found worldwide but the prevalence varies among different ethnic groups. It has a strong genetic component but environmental factors such as infections can play an important role in the presentation of disease. There are several clinical cutaneous manifestations of psoriasis but most commonly the disease presents as chronic, symmetrical, erythematous, scaling papules and plaques. The epidemiology, clinical features, and impact on quality of life of psoriasis are reviewed. PMID:15708928

  9. [Clinical, hormonal and histological features in ovarian stromal hyperthecosis].

    PubMed

    Abuladze, M V; Sharabidze, N G

    2006-10-01

    The aim of our study was to investigate clinical, hormonal and histological features of ovarian stromal hyperthecosis We have studied 104 patients with a histological diagnosis of ovarian stromal hyperthecosis and hyperplasia. Analyzing the results we can conclude that clinical features of ovarian stromal hyperthecosis and hyperplasia with polycystic ovarian disease and without it were identical and characterised by virilization syndrome, disorders of menstrual cycle and reproductive function; metabolic and vegeto-vascular disorders; breast and endometrial hyperplasias, high blood level of testosterone . The histological study of ovarian stromal hyperthecosis has showed that superficial part of ovarian cortex is hypocellular and fibrotic, contains scattered follicles with few granulosa cells, luteinized internal theca cells, hyperplasia of deep cortex and medulla, corpus luteus is absent. PMID:17077467

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

    Microsoft Academic Search

    Kevork Hopayian; Fujian Song; Ricardo Riera; Sidha Sambandan

    2010-01-01

    Piriformis syndrome, sciatica caused by compression of the sciatic nerve by the piriformis muscle, has been described for\\u000a over 70 years; yet, it remains controversial. The literature consists mainly of case series and narrative reviews. The objectives\\u000a of the study were: first, to make the best use of existing evidence to estimate the frequencies of clinical features in patients\\u000a reported to

  11. [Gastric erosions: pathogenesis, clinical features, diagnosis, and treatment].

    PubMed

    Svintsitski?, A S; Solov'eva, G A

    2008-01-01

    Recent data on etiology, pathogenesis, diagnosis, and treatment of gastric erosion are reviewed. Classification of acute and chronic erosions is proposed. The authors point out to the lack of documented scientific information related to the role and significance of erosions in gastroduodenal pathology. Special emphasis is laid on risk factors, diagnosis, prevention, and treatment of gastropathies with reference to their clinical features and diagnostic criteria. The main provisions of the Maastricht Treaty 3 (2005) concerning NSAID gastropathies are outlined. PMID:19048831

  12. 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.

  13. Clinical Features and Differential Diagnoses in Laryngeal Mucoepidermoid Carcinoma

    PubMed Central

    Mokhtari, Sepideh; Mokhtari, Saeedeh

    2012-01-01

    Mucoepidermoid carcinoma is the most common malignant tumor of salivary glands. However, it is a rare entity in larynx. Laryngeal cases are frequently misdiagnosed with other malignancies and they are under-reported. So, recognizing the clinical and histological features of this tumor is essential. Laryngeal mucoepidermoid carcinoma can arise in supraglottis, glottis and subglottis. Generally, it presents as a submucosal mass; therefore, progressive symptoms without any identifiable lesion in laryngoscopy must be well considered. The prognosis is somehow dependent on the histological features. In high-grade tumors, recurrence is more common and radical surgery with radiotherapy is recommended. In this paper, we provide a thorough literature review on mucoepidermoid carcinoma in the larynx. The most important distinguishing features of mucoepidermoid carcinoma and its two major differential diagnoses (squamous cell carcinoma and adenosquamous carcinoma) are clearly stated and pitfalls in true diagnosis of this tumor are discussed. PMID:22262946

  14. Clinical Features and Course of Ocular Toxocariasis in Adults

    PubMed Central

    Ahn, Seong Joon; Woo, Se Joon; Jin, Yan; Chang, Yoon-Seok; Kim, Tae Wan; Ahn, Jeeyun; Heo, Jang Won; Yu, Hyeong Gon; Chung, Hum; Park, Kyu Hyung; Hong, Sung Tae

    2014-01-01

    Purpose To investigate the clinical features, clinical course of granuloma, serologic findings, treatment outcome, and probable infection sources in adult patients with ocular toxocariasis (OT). Methods In this retrospective cohort study, we examined 101 adult patients diagnosed clinically and serologically with OT. Serial fundus photographs and spectral domain optical coherence tomography images of all the patients were reviewed. A clinic-based case-control study on pet ownership, occupation, and raw meat ingestion history was performed to investigate the possible infection sources. Results Among the patients diagnosed clinically and serologically with OT, 69.6% showed elevated immunoglobulin E (IgE) levels. Granuloma in OT involved all retinal layers and several vitreoretinal comorbidities were noted depending on the location of granuloma: posterior pole granuloma was associated with epiretinal membrane and retinal nerve fiber layer defects, whereas peripheral granuloma was associated with vitreous opacity. Intraocular migration of granuloma was observed in 15 of 93 patients (16.1%). Treatment with albendazole (400 mg twice a day for 2 weeks) and corticosteroids (oral prednisolone; 0.5–1 mg/kg/day) resulted in comparable outcomes to patients on corticosteroid monotherapy; however, the 6-month recurrence rate in patients treated with combined therapy (17.4%) was significantly lower than that in patients treated with corticosteroid monotherapy (54.5%, P?=?0.045). Ingestion of raw cow liver (80.8%) or meat (71.2%) was significantly more common in OT patients than healthy controls. Conclusions Our study discusses the diagnosis, treatment, and prevention strategies for OT. Evaluation of total IgE, in addition to anti-toxocara antibody, can assist in the serologic diagnosis of OT. Combined albendazole and corticosteroid therapy may reduce intraocular inflammation and recurrence. Migrating feature of granuloma is clinically important and may further suggest the diagnosis of OT. Clinicians need to carefully examine comorbid conditions for OT. OT may be associated with ingestion of uncooked meat, especially raw cow liver, in adult patients. PMID:24922534

  15. Mitochondrial Sensorineural Hearing Loss: A Retrospective Study and a Description of Cochlear Implantation in a MELAS Patient

    PubMed Central

    Scarpelli, Mauro; Zappini, Francesca; Filosto, Massimiliano; Russignan, Anna; Tonin, Paola; Tomelleri, Giuliano

    2012-01-01

    Hearing impairment is common in patients with mitochondrial disorders, affecting over half of all cases at some time in the course of the disease. In some patients, deafness is only part of a multisystem disorder. By contrast, there are also a number of “pure” mitochondrial deafness disorders, the most common probably being maternally inherited. We retrospectively analyzed the last 60 genetically confirmed mitochondrial disorders diagnosed in our Department: 28 had bilateral sensorineural hearing loss, whereas 32 didn't present ear's abnormalities, without difference about sex and age of onset between each single group of diseases. We reported also a case of MELAS patient with sensorineural hearing loss, in which cochlear implantation greatly contributed to the patient's quality of life. Our study suggests that sensorineural hearing loss is an important feature in mitochondrial disorders and indicated that cochlear implantation can be recommended for patients with MELAS syndrome and others mitochondrial disorders. PMID:22567382

  16. 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

  17. Clinical features of Black African neonates with Down's syndrome.

    PubMed

    Christianson, A L; Kromberg, J G; Viljoen, E

    1995-05-01

    Early reports indicated a low prevalence of Down's syndrome (DS) in black African children. More recent research demonstrates an incidence similar to, or higher than that reported to occur in First World populations. One of the possible reasons for underreporting of DS in Africa, appears to be the lack of recognition of the problem at birth. In this study, the musculoskeletal, central nervous system and craniofacial features are documented in 40 black DS neonates and 50 black control neonates without DS, and the findings are compared with those from a reported series of 37 caucasian DS and 40 healthy newborns. Musculoskeletal and central nervous system features were markedly similar in black and caucasian infants. However, the craniofacial features of the African DS newborns approximated more closely those of the normal African neonates, than was the case in the caucasian DS and normal neonates. This finding may partially explain the underreporting of DS in this population, and it emphasizes the need for a clinical awareness of DS and for complete clinical examination to identify affected infants. PMID:7555887

  18. Multiple sclerosis in childhood: clinical and radiological features.

    PubMed

    Forrester, Michael B; Coleman, Lee; Kornberg, Andrew J

    2009-01-01

    We analyzed the medical records and cerebral imaging of 30 children with early onset multiple sclerosis to compare the clinical and neuro-radiological features with acute demyelinating encephalomyelitis and adult multiple sclerosis. The female:male ratio was 1.3 before the age of 12 years and increased to 4.3 after age 12 years. Optic neuritis and pyramidal dysfunction were the most common presenting clinical features. The most common radiological features at first imaging were periventricular (77.2%), corpus callosal demyelination (63.6%), gadolinium enhancement (62.5%), and Dawson's fingers (40.9%). The median relapse rate per patient year was 1.2 ([IQR] 0.6-2.0). Seven patients reached a moderate Expanded-Disability-Status-Scale score of 3 and 3 patients were more severely affected (score of 6). Expanded-Disability-Status-Scale score increased by 0.7 for every relapse. Ten patients were commenced on immunomodulatory therapy (Interferon beta 1a, n = 9; Interferon beta 1b, n = 3; or Glatiramer acetate, n = 1), the majority of who had minimal side effects and a reduction in relapse rate. PMID:18940915

  19. 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

  20. Clinical features of adverse reactions associated with telbivudine

    PubMed Central

    Zhang, Xue-Song; Jin, Rui; Zhang, Shi-Bin; Tao, Ming-Ling

    2008-01-01

    AIM: To analyze the clinical features and risk factors of adverse reactions associated with telbivudine. METHODS: Clinical data were collected from cases that presented with serious adverse reactions to telbivudine. We analyzed general information and medicine status, clinical features, results of examination, and misdiagnosis. RESULTS: Out of 105 patients who were treated with telbivudine for hepatitis B in an outpatient department from January, 2007 to January, 2008, five presented with serious adverse drug reactions. Most of these five patients had used other nucleoside analogues in the past. Four were treated with a combination of telbivudine and interferon or another nucleoside analogue, while the other received an increased dose of telbivudine. The main adverse reactions were myalgia and general weakness. This was accompanied by cardiac arrhythmia in one patient, and nervous symptoms in three. Serum creatine kinase was elevated. The rate of misdiagnosis was high. CONCLUSION: The adverse reactions were related to telbivudine, but the biological mechanism of the reactions is not yet clear. Combination therapy with interferon or another nucleoside analogue and a high dose may increase the risk of adverse reactions. PMID:18567085

  1. Pituitary apoplexy: an update on clinical and imaging features.

    PubMed

    Boellis, Alessandro; di Napoli, Alberto; Romano, Andrea; Bozzao, Alessandro

    2014-12-01

    Pituitary apoplexy (PA) is a rare and potentially fatal clinical condition presenting acute headache, vomiting, visual impairment, ophthalmoplegia, altered mental state and possible panhypopituitarism. It mostly occurs in patients with haemorrhagic infarction of the pituitary gland due to a pre-existing macroadenoma. Although there are pathological and physiological conditions that may share similar imaging characteristics, both clinical and imaging features can guide the radiologist towards the correct diagnosis, especially using magnetic resonance imaging (MRI). In this review, we will describe the main clinical and epidemiological features of PA, illustrating CT and MRI findings and discussing the role of imaging in the differential diagnosis, prognosis and follow-up. Teaching points • Headache, ophtalmoplegia and visual impairment are frequent symptoms of pituitary apoplexy. • CT is often the first imaging tool in PA, showing areas of hyperdensity within the sellar region. • MRI could confirm haemorrhage within the pituitary gland and compression on the optic chiasm. • Frequent simulating conditions are aneurysms, Rathke cleft cysts, craniopharingioma and mucocele. • The role of imaging is still debated and needs more studies. PMID:25315035

  2. Identification of phyllosilicates and sulfates near the southern wall of Melas Chasma on Mars

    NASA Astrophysics Data System (ADS)

    Liu, Y.; Arvidson, R. E.

    2012-12-01

    Melas Chasma is the widest segment of the Valles Marineris on Mars and is located in the center of this canyon system. It contains extensive and highly organized valley networks and layered deposits associated with hydrated minerals. In this study, we use MRO CRISM targeted mode hyperspectral image data (HRL0001900F) centered at 9.7 S, 75.9 W over a portion of the southern wall and nearby floor of Melas Chasma to identify and map phyllosilicate and sulfate-bearing minerals. The study area is located to the northwest of the region where interior layered deposits (ILDs) associated with hydrated sulfates were identified by Liu et al (2012, LPSC, abstract# 2572). The topography associated the deposits was examined using HiRISE digital elevation maps and used along with superposition relationships to help define the stratigraphic order. The bottom of the exposed section consists of a relatively thin layer of monohydrated sulfates characterized by absorption features at 2.1 and 2.39 ?m. Fe-smectite was identified in the rounded deposits above this thin layer based on absorption features at 1.9, 2.29, and 2.4 ?m. The top of this section is dominated by an areally extensive monohydrated sulfate-bearing unit. Detailed results will be presented along with an analysis of the changing aqueous conditions inferred from the mineral associations.

  3. [Clinical characteristics of penetrating ocular injuries with intraocular foreign body. Part I. Pathogenesis and clinical features].

    PubMed

    Obuchowska, Iwona; Napora, Katarzyna J; Sidorowicz, Aneta; Mariak, Zofia

    2010-01-01

    Intraocular foreign bodies (IOFBs), are the major cause of penetrating ocular trauma and the most serious problem is the resulting impairment of visual function. In this paper, based on published reports and their clinical experience, authors discuss questions of pathogenesis, epidemiology and clinical features of IOFB injuries. Special attention was paid on primary and secondary complications, which include mechanical lesions of the ocular tissues, metallosis and endophthalmitis. PMID:20572510

  4. Mutational analysis of whole mitochondrial DNA in patients with MELAS and MERRF diseases

    PubMed Central

    Choi, Byung-Ok; Hwang, Jung Hee; Cho, Eun Min; Jeong, Eun Hye; Hyun, Young Se; Jeon, Hyeon Jeong; Seong, Ki Min; Cho, Nam Soo

    2010-01-01

    Mitochondrial diseases are clinically and genetically heterogeneous disorders, which make the exact diagnosis and classification difficult. The purpose of this study was to identify pathogenic mtDNA mutations in 61 Korean unrelated families (or isolated patients) with MELAS or MERRF. In particular, the mtDNA sequences were completely determined for 49 patients. From the mutational analysis of mtDNA obtained from blood, 5 confirmed pathogenic mutations were identified in 17 families, and 4 unreported pathogenically suspected mutations were identified in 4 families. The m.3243A>G in the tRNALeu(UUR) was predominantly observed in 10 MELAS families, and followed by m.8344A>G in the tRNALys of 4 MERRF families. Most pathogenic mutations showed heteroplasmy, and the rates were considerably different within the familial members. Patients with a higher rate of mutations showed a tendency of having more severe clinical phenotypes, but not in all cases. This study will be helpful for the molecular diagnosis of mitochondrial diseases, as well as establishment of mtDNA database in Koreans. PMID:20440095

  5. What clinical features precede the onset of bipolar disorder?

    PubMed

    Perich, Tania; Lau, Phoebe; Hadzi-Pavlovic, Dusan; Roberts, Gloria; Frankland, Andrew; Wright, Adam; Green, Melissa; Breakspear, Michael; Corry, Justine; Radlinska, Basia; McCormack, Clare; Joslyn, Cassandra; Levy, Florence; Lenroot, Rhoshel; Nurnberger Jnr, John I; Mitchell, Philip B

    2015-03-01

    Despite a growing number of reports, there is still limited knowledge of the clinical features that precede the onset of bipolar disorder (BD). To explore this, we investigated baseline data from a prospectively evaluated longitudinal cohort of subjects aged 12-30 years to compare: first, lifetime rates of clinical features between a) subjects at increased genetic risk for developing BD ('AR'), b) participants from families without mental illness ('controls'), and c) those with established BD; and, second, prior clinical features that predict the later onset of affective disorders in these same three groups. This is the first study to report such comparisons between these three groups (though certainly not the first to compare AR and control samples). 118 AR participants with a parent or sibling with BD (including 102 with a BD parent), 110 controls, and 44 BD subjects were assessed using semi-structured interviews. AR subjects had significantly increased lifetime risks for depressive, anxiety and behavioural disorders compared to controls. Unlike prior reports, preceding anxiety and behavioural disorders were not found to increase risk for later onset of affective disorders in the AR sample, perhaps due to limited sample size. However, preceding behavioural disorders did predict later onset of affective disorders in the BD sample. The findings that i) AR subjects had higher rates of depressive, anxiety and behavioural disorders compared to controls, and ii) prior behavioural disorders increased the risk to later development of affective disorders in the BD group, suggest the possibility of therapeutic targeting for these disorders in those at high genetic risk for BD. PMID:25700556

  6. The heavy chain diseases: clinical and pathologic features.

    PubMed

    Bianchi, Giada; Anderson, Kenneth C; Harris, Nancy Lee; Sohani, Aliyah R

    2014-01-01

    Heavy chain diseases are a family of rare, systemic syndromes typically associated with or representing a variant of a B-cell neoplasm. Their characteristic feature is production of a mutated immunoglobulin heavy chain incapable of either partnering with light chains in the formation of a full immunoglobulin molecule or of being degraded by the proteasome. The abnormal heavy chain is detected in urine and/or serum without an associated light chain, a pathognomonic finding. Depending on the subtype of the altered heavy chain, these conditions can be subclassified as alpha, gamma, or mu heavy chain disease. We discuss the clinical presentation; epidemiology; laboratory, radiologic, and pathologic features; and treatment options for each of the heavy chain diseases, emphasising the importance of an accurate pathologic diagnosis and correct interpretation of immunologic studies in their identification. PMID:24683718

  7. Clinical features of infections and colonization by Acinetobacter genospecies 3.

    PubMed

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

    2010-12-01

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

  8. Clinical features, cognitive biases, and treatment of body dysmorphic disorder.

    PubMed

    Fang, Angela; Wilhelm, Sabine

    2015-03-28

    In the past two decades, research advances have enhanced our understanding of the clinical features, cognitive biases, and treatment of body dysmorphic disorder (BDD). In this review, we critically examine the current state of the evidence on the proposed cognitive and emotional processing mechanisms of BDD. We describe how major findings in these areas made unique contributions to the development of an empirically informed cognitive-behavioral model of BDD, which in turn facilitated the translation of research to treatment strategies. Finally, we outline important areas of future research. PMID:25581240

  9. Hypertrophic cardiomyopathy in infants: clinical features and natural history

    SciTech Connect

    Maron, B.J. (National Inst. of Health, Bethesda, MD); 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.

  10. Clinical, biochemical, and immunohistochemical features of necrobiotic xanthogranulomatosis

    PubMed Central

    Jeziorska, M; Hassan, A; Mackness, M I; Woolley, D E; Tullo, A B; Lucas, G S; Durrington, P N

    2003-01-01

    Aims: To describe the clinical features of two patients with paraproteinaemia and necrobiotic xanthogranulomatosis together with detailed immunohistochemistry of the lesions in one. Methods: The clinical history and results of biochemical investigations of the patients were retrieved from the files. Immunohistochemistry was used to investigate the expression of macrophage and mast cell markers, amyloid A and P, S-100 protein, and apolipoprotein AI and B in xanthogranulomatous skin lesions from patient 2. In addition, protein A–sepharose chromatography was used to separate serum from patient 2 and apolipoprotein B and the IgG paraprotein were measured in the fractions eluted. Results: Monocytes/macrophages comprised the major cellular component of the lesion, and unusually for xanthomata, areas of collagen necrosis were also seen. Activated mast cells were present at the margins of macrophage clusters and adjacent to areas of collagen necrosis. Serum paraprotein was bound to low density lipoproteins as judged by protein A–sepharose chromatography, and was also located within macrophagic foam cells of the lesion on immunohistochemistry. Conclusions: These observations demonstrate many features similar to atherosclerosis including collagen necrosis and mast cell activation. PMID:12499438

  11. Clinical features and revised diagnostic criteria in Joubert syndrome.

    PubMed

    Maria, B L; Boltshauser, E; Palmer, S C; Tran, T X

    1999-09-01

    The clinical presentation of children with Joubert syndrome can include nonspecific features such as hypotonia, ataxia, and developmental delay. Careful examination of the face shows a characteristic appearance, and a neuro-ophthalmologic examination shows the presence of oculomotor apraxia. In the neonatal period, most children have hyperpnea intermixed with central apnea. Neuroimaging of the head in the axial plane demonstrates the "molar tooth sign"--deep posterior interpeduncular fossa, thick and elongated superior cerebellar peduncles, and hypoplastic or aplastic superior cerebellar vermis. The central nervous system malformation spectrum observed in radiologic and neuropathologic studies accounts for many clinical features of Joubert syndrome. The developmental delay and cognitive impairment cannot be fully explained by the hindbrain malformation and probably result from dysfunction of the cerebral hemispheres. Although related conditions with vermian hypoplasia or aplasia (including Arima; Senior-Loken; and cerebellar vermian hypoplasia, oligophrenia, congenital ataxia, coloboma, and hepatic fibrosis syndromes) can mimic Joubert syndrome, detailed imaging data are lacking in such cases. We propose a revision in diagnostic criteria for Joubert syndrome. PMID:10488903

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

    PubMed

    Hopayian, Kevork; Song, Fujian; Riera, Ricardo; Sambandan, Sidha

    2010-12-01

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

  13. Epilepsy in Rett syndrome: clinical and genetic features.

    PubMed

    Pintaudi, Maria; Calevo, Maria Grazia; Vignoli, Aglaia; Parodi, Elena; Aiello, Francesca; Baglietto, Maria Giuseppina; Hayek, Yussef; Buoni, Sabrina; Renieri, Alessandra; Russo, Silvia; Cogliati, Francesca; Giordano, Lucio; Canevini, Mariapaola; Veneselli, Edvige

    2010-11-01

    Epilepsy often occurs in Rett syndrome and is considered a major problem. The aim of this study was to define the clinical features of epilepsy and the correlation between seizures and both genotype and clinical phenotype in the Rett population. One hundred sixty-five patients with Rett syndrome referred to four Italian centers were recruited. All patients underwent video/EEG monitoring and molecular analysis of the MECP2 gene or, in negative cases, of the CDKL5 and FOXG1 genes. The frequency of epilepsy was 79%. Drug-resistant epilepsy occurred in 30% of all our patients with Rett syndrome and in 38% of those with epilepsy. Our findings demonstrate that epilepsy differs among the various phenotypes and genotypes with respect to age at onset, drug responsiveness, and seizure semiology. The Hanefeld and preserved speech variants represent the extremes of the range of severity of epilepsy: the preserved speech variant is characterized by the mildest epileptic phenotype as epilepsy is much less frequent, starts later, and is less drug resistant than what is observed in the other phenotypes. Another important finding is that seizure onset before 1 year of age and daily frequency are risk factors for drug resistance. Thus, this study should help clinicians provide better clinical counseling to the families of patients with Rett syndrome. PMID:20728410

  14. Impaired respiratory function in MELAS-induced pluripotent stem cells with high heteroplasmy levels

    PubMed Central

    Kodaira, Masaki; Hatakeyama, Hideyuki; Yuasa, Shinsuke; Seki, Tomohisa; Egashira, Toru; Tohyama, Shugo; Kuroda, Yusuke; Tanaka, Atsushi; Okata, Shinichiro; Hashimoto, Hisayuki; Kusumoto, Dai; Kunitomi, Akira; Takei, Makoto; Kashimura, Shin; Suzuki, Tomoyuki; Yozu, Gakuto; Shimojima, Masaya; Motoda, Chikaaki; Hayashiji, Nozomi; Saito, Yuki; Goto, Yu-ichi; Fukuda, Keiichi

    2015-01-01

    Mitochondrial diseases are heterogeneous disorders, caused by mitochondrial dysfunction. Mitochondria are not regulated solely by nuclear genomic DNA but by mitochondrial DNA. It is difficult to develop effective therapies for mitochondrial disease because of the lack of mitochondrial disease models. Mitochondrial myopathy, encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS) is one of the major mitochondrial diseases. The aim of this study was to generate MELAS-specific induced pluripotent stem cells (iPSCs) and to demonstrate that MELAS-iPSCs can be models for mitochondrial disease. We successfully established iPSCs from the primary MELAS-fibroblasts carrying 77.7% of m.3243A>G heteroplasmy. MELAS-iPSC lines ranged from 3.6% to 99.4% of m.3243A>G heteroplasmy levels. The enzymatic activities of mitochondrial respiratory complexes indicated that MELAS-iPSC-derived fibroblasts with high heteroplasmy levels showed a deficiency of complex I activity but MELAS-iPSC-derived fibroblasts with low heteroplasmy levels showed normal complex I activity. Our data indicate that MELAS-iPSCs can be models for MELAS but we should carefully select MELAS-iPSCs with appropriate heteroplasmy levels and respiratory functions for mitochondrial disease modeling. PMID:25853038

  15. 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

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

    PubMed

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

    2008-10-01

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

  17. Molluscum contagiosum: characterization of viral DNA and clinical features.

    PubMed Central

    Porter, C. D.; Muhlemann, M. F.; Cream, J. J.; Archard, L. C.

    1987-01-01

    Restriction endonuclease analysis of molluscum contagiosum virus DNA revealed two subtypes. In a study of 46 isolates from 41 patients, some with no other disorder and some with atopic dermatitis, the ratio of MCV I isolates to MCV II was 34:12. Multiple clustered lesions removed at the same time from an individual patient yielded only one type of MCV. Lesions induced by MCV I or MCV II were indistinguishable on the basis of size and form. Neither subtype was associated exclusively with lesions at certain sites or with other clinical features. Heterogeneity of DNA restriction endonuclease cleavage patterns amongst isolates of the same subtype was observed, this being greatest for MCV II. Images Fig. 1 PMID:2824227

  18. Classification, clinical features, and genetics of neural tube defects

    PubMed Central

    Salih, Mustafa A.; Murshid, Waleed R.; Seidahmed, Mohammed Z.

    2014-01-01

    Neural tube defects (NTDs) constitute a major health burden (0.5-2/1000 pregnancies worldwide), and remain a preventable cause of still birth, neonatal, and infant death, or significant lifelong handicaps. The malformations result from failure of the neural folds to fuse in the midline, and form the neural tube between the third and the fourth week of embryonic development. This review article discusses their classification, clinical features, and genetics. Most NTDs are sporadic and both genetic, and non-genetic environmental factors are involved in its etiology. Consanguinity was suggested to contribute to the high incidence of NTDs in several countries, including Saudi Arabia. Syndromes, often associated with chromosomal anomalies, account for <10% of all NTDs; but a higher proportion (20%) has been documented in Saudi Arabia. Genetic predisposition constitutes the major underlying risk factor, with a strong implication of genes that regulate folate one-carbon metabolism and planar cell polarity. PMID:25551113

  19. The clinical features and optimal treatment of anorectal malignant melanoma

    PubMed Central

    Nam, Soomin; Kim, Chang Woo; Baek, Se Jin; Hur, Hyuk; Min, Byung Soh; Kim, Nam Kyu

    2014-01-01

    Anorectal malignant melanoma (AMM) is a very rare and aggressive disease. The purpose of this article is to review the clinical features of AMM, to understand treatment options, and optimal therapy by reviewing pertinent literature. Traditionally an abdominoperineal resection (APR) sacrificing the anal sphincter has been performed for radical resection of cancer, but recently, wide excision of AMM is attempted since quality of life after surgery is an important issue. Some authors reported that there was no difference in five-year survival between the patient who underwent an APR and wide excision. The goal of both APR and wide excision was to improve survival with R0 resection. Adjuvant chemoradiation therapy can be performed to achieve an R0 resection. AMM shows very poor prognosis. At this time, research on AMM is insufficient to suggest a treatment guideline. Thus, treatment options, and a therapeutic method should be selected carefully. PMID:25247163

  20. [Wolfram syndrome: clinical features, molecular genetics of WFS1 gene].

    PubMed

    Tanabe, Katsuya; Matsunaga, Kimie; Hatanaka, Masayuki; Akiyama, Masaru; Tanizawa, Yukio

    2015-02-01

    Wolfram syndrome(WFS: OMIM 222300) is a rare recessive neuro-endocrine degenerative disorder, known as DIDMOAD(Diabetes Insipidus, early-onset Diabetes Mellitus, Optic Atrophy and Deafness) syndrome. Most affected individuals carry recessive mutations in the Wolfram syndrome 1 gene(WFS1). The WFS1 protein is an endoplasmic reticulum(ER) embedded protein, which functions in ER calcium homeostasis and unfolded protein responses. Dysregulation of these cellular processes results in the development of ER stress, leading to apoptosis. In addition, abundantly present WFS1 protein in insulin secretory granules plays a role in the intra-granular acidification. However, the phenotypic pleiomorphism and molecular complexity of this disease limit the understanding of WFS. Here we review clinical features, molecular mechanisms and mutations of WFS1 gene that relate to this syndrome. PMID:25764693

  1. Clinical Characteristics of Asthma Combined with COPD Feature

    PubMed Central

    Lee, Hea Yon; Kang, Ji Young; Yoon, Hyoung Kyu; Lee, Sook Young; Kwon, Soon Suk; Kim, Young Kyoon

    2014-01-01

    Purpose In clinical practice, some patients with asthma show incompletely reversible airflow obstruction, resembling chronic obstructive pulmonary disease (COPD). The aim of this study was to analyze this overlap phenotype of asthma with COPD feature. Materials and Methods A total of 256 patients, over the age of 40 years or more with a diagnosis of asthma, based on either 1) positive response to bronchodilator: >200 mL forced expiratory volume in 1 s (FEV1) and >12% baseline or 2) positive methacholine or mannitol provocation test, were enrolled. Among the asthma patients, we defined the overlap group with incompletely reversible airflow obstruction [postbronchodilator FEV1/forced vital capacity (FVC) <70] at the initial time of admission and continuing airflow obstruction after at least 3 months follow up. We evaluated clinical features, serum eosinophil counts, serum total immunoglobulin (Ig) E with allergy skin prick test, spirometry, methacholine or mannitol provocation challenges and bronchodilator responses, based on their retrospective medical record data. All of the tests mentioned above were performed within one week. Results The study population was divided into two groups: asthma only (62%, n=159, postbronchodilator FEV1/FVC ?70) and overlap group (38%, n=97, postbronchodilator FEV1/FVC <70). The overlap group was older, and contained more males and a higher percentage of current or ex-smokers than the asthma only group. Significantly lower FEV1 and higher total lung capacity, functional residual capacity, and residual volume were observed in the overlap group. Finally, significantly lower serum eosinophil count and higher IgE were seen in the overlap group. Conclusion Our results showed that the overlap phenotype was older, male asthmatic patients who have a higher lifetime smoking intensity, more atopy and generally worse lung function. PMID:24954327

  2. Clinical Features: Features of patients with SLC9A6 mutations include mental retardation, microcephaly, truncal ataxia, grand mal

    E-print Network

    Gilad, Yoav

    7/08 Clinical Features: Features of patients with SLC9A6 mutations include mental retardation identified in patients with X-linked mental retardation with features similar to Angelman syndrome [2]. SLC9A will be reported by telephone. References: 1. Christianson A, et al. "X-linked severe mental retardation

  3. 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

  4. Clinical features in patients with long-lasting macrophagic myofasciitis.

    PubMed

    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

  5. 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

  6. Pancreatic neuroendocrine tumors: clinical features, diagnosis and medical treatment: advances.

    PubMed

    Ito, Tetsuhide; Igarashi, Hisato; Jensen, Robert T

    2012-12-01

    Pancreatic neuroendocrine tumors (pNETs) comprise with gastrointestinal carcinoids, the main groups of gastrointestinal neuroendocrine tumors (GI-NETs). Although these two groups of GI-NETs share many features including histological aspects; over-/ectopic expression of somatostatin receptors; the ability to ectopically secrete hormones/peptides/amines which can result in distinct functional syndromes; similar approaches used for tumor localization and some aspects of treatment, it is now generally agreed they should be considered separate. They differ in their pathogenesis, hormonal syndromes produced, many aspects of biological behaviour and most important, in their response to certain anti-tumour treatment (chemotherapy, molecular targeted therapies). In this chapter the clinical features of the different types of pNETs will be considered as well as aspects of their diagnosis and medical treatment of the hormone-excess state. Emphasis will be on controversial areas or recent advances. The other aspects of the management of these tumors (surgery, treatment of advanced disease, tumor localization) are not dealt with here, because they are covered in other chapters in this volume. PMID:23582916

  7. 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

  8. 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

  9. Clinical features and prognostic factors of Churg-Strauss syndrome

    PubMed Central

    Kim, Mi-Yeong; Sohn, Kyoung-Hee; Song, Woo-Jung; Park, Heung-Woo; Cho, Sang-Heon; Min, Kyung-Up

    2014-01-01

    Background/Aims Churg-Strauss syndrome (CSS) is a rare systemic necrotizing small-vessel vasculitis, with accompanying bronchial asthma, eosinophilia, and eosinophilic infiltration of various tissues. The purposes of our study were to characterize the clinical features of CSS and to identify factors associated with CSS prognosis in Koreans. Methods Medical records were reviewed retrospectively for all physician-diagnosed CSS patients in the Seoul National University Hospital between January 1990 and March 2011. Results Data from 52 CSS patients were analyzed. The respiratory tract was the most commonly involved organ (90.4%). Renal involvement was less frequent in antineutrophilic cytoplasmic antibody (ANCA)(-) patients than in ANCA(+) patients (p = 0.048). Clinical remission occurred in 95.3% of patients, but 16.3% of them relapsed. Patients who maintained remission for more than 6 months were relatively older (median, 51 years) at diagnosis (p = 0.004), had been diagnosed in earlier stages (p = 0.027), showed more frequent respiratory involvement (p = 0.024) and generalized symptoms (p = 0.039), and showed less frequent cutaneous involvement (p = 0.030) than those who did not achieve persistent (> 6 months) remission. Patients who achieved persistent remission also showed higher C-reactive protein (CRP) levels (p = 0.031) than those who did not. Conclusions ANCA(-) CSS patients showed less frequent renal involvement. Characteristics of good responders were older age, diagnosis at earlier stages, less cutaneous involvement, more respiratory involvement, high CRP values, and more generalized symptoms. PMID:24574837

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

    PubMed Central

    Parisi, Melissa A.

    2009-01-01

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

  11. Ebola in children: epidemiology, clinical features, diagnosis and outcomes.

    PubMed

    Olupot-Olupot, Peter

    2015-03-01

    Ebola virus disease is caused by a highly contagious and pathogenic threadlike RNA virus of the Filoviridae family. The index human case is usually a zoonosis that launches human-to-human transmission interface with varying levels of sustainability of the epidemic depending on the level of public health preparedness of the affected country and the Ebola virus strain. The disease affects all age groups in the population. Clinical diagnosis is challenging in index cases especially in the early stages of the disease when the presenting features are usually nonspecific and only similar to a flu-like illness. However, in the agonal stages, hemorrhage frequently occurs in a high proportion of cases. The diagnostic gold standard is by detecting the antigen using reverse transcription-polymerase chain reaction. Mortality rates in the past 28 outbreaks since 1976 have ranged from 30% to 100% in different settings among adults, but lower mortality rates have been documented in children. This review aims to describe Ebola virus infection, clinical presentation, diagnosis and outcomes in children. PMID:25522340

  12. [Primary epiploic appendagitis: clinical features in 73 cases].

    PubMed

    Vázquez, Graciela M; Manzotti, Matías E; Alessandrini, Graciana; Lemos, Sofía; Perret, María Clara; Catalano, Hugo N

    2014-01-01

    Primary epiploic appendagitis is a relatively rare disease in the differential diagnosis of acute abdomen, nonetheless it is an entity that should not be ignored by physicians and surgeons in order to prevent unnecessary interventions and overuse of antibiotics. To substantiate this concept a search was conducted at the Hospital Aleman, Buenos Aires between April 2007 and July 2013. The aim was clinical histories containing sonographic and tomographic images with diagnosis of omental appendagitis; and subsequently their electronic medical records were reviewed. The clinical features and outcome of a case series of 73 primary omental appendagitis were selected; the mean age was 45 years (± 16); 54 (74%) were men. Abdominal pain (left lower quadrant in 89% of cases) was the most common symptom. Abdominal ultrasound was performed on 44 (60%) of patients, computed tomography on 21 (29%), and both studies on 8 (11%) of cases in this series. In 49% of cases surgery consultation was requested. Fifteen patients (21%) were treated with antibiotics, 73% of them were prescribed by a clinician. Sixty seven patients (92%) were treated as outpatients with non steroidal anti-inflammatory drugs (NSAIDs); two required laparoscopic surgery, two required hospitalization and two others were treated with opioids. Epiploic apendagitis is uncommon in the differential diagnosis of acute abdomen, but is an entity that should not be ignored by physicians to prevent unnecessary interventions and overuse of antibiotics. PMID:25555004

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

    PubMed Central

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

    2013-01-01

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

  14. 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

  15. [Correlation between various autoantibodies in scleroderma patients and their clinical features].

    PubMed

    Su, L D

    1993-11-01

    We studied the antibodies of cell structural localized antibody and the correlation between the new classifications and their clinical features. The results suggest that antikinetochore antibody is the apparent indicator of CREST syndrome, anticentrosome antibody the apparent indicator of local scleroderma with mild clinical features and better prognosis, antinucleous antibody the apparent indicator of diffuse scleroderma with most severe clinical features, high mortality and poor prognosis. New classifications 13 of diagnostic value in clinical grouping and prognosis estimation. PMID:8124613

  16. 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

  17. Clinical features of idiopathic megarectum and idiopathic megacolon.

    PubMed Central

    Gattuso, J M; Kamm, M A

    1997-01-01

    BACKGROUND: Dilatation of the rectum and/or colon, in the absence of demonstrable organic disease, is an uncommon and poorly characterised condition. AIMS: To characterise the clinical and diagnostic features, and response to treatment, of patients with idiopathic megarectum (IMR) and idiopathic megacolon (IMC). METHODS: A retrospective review was undertaken of all patients operated on for these conditions over a 23 year period. In addition all patients treated over a three year period were prospectively studied by means of a questionnaire, contrast studies of the upper and lower intestine, spine x rays to exclude spinal dysraphism, anorectal physiological studies, and assessment of clinical outcome. Patients with Hirschsprung's disease and other known causes of gut dilatation were excluded. RESULTS: (i) Retrospective study: Of 63 operated patients, 22 had IMR, 23 had IMR and IMC, and 18 had IMC only. Five patients with IMC had previous sigmoid volvulus, and three had associated non-gastrointestinal congenital abnormalities. Faecal incontinence was always associated with rectal impaction and 14 patients (82%) with IMR alone had had manual disimpaction. (ii) Prospective study: Twenty two patients had IMR, with a median rectal diameter of 10 cm (normal < 6.5 cm). Six patients had IMC and one patient had IMR and IMC. Patients with IMR were significantly (p = 0.0007) younger than patients with IMC. All patients with IMR became symptomatic in childhood, compared with half the patients with IMC who developed symptoms as adults. Patients with IMR all presented with soiling and impaction, compared with patients with IMC whose symptoms were variable and included constipation or increased bowel frequency, pain, and variable need for laxatives. No upper gut dilatation was seen in either group of patients. Spinal dysraphism was seen in two of 18 patients with IMR and two of four with IMC, suggesting extrinsic denervation as a possible cause in a minority. Twelve of 22 patients with IMR had a maximum anal resting pressure below normal, indicating sphincter damage or inhibition. Both IMR and IMC patients had altered rectal sensitivity to distension, suggesting that despite lack of dilatation the rectum in IMC has altered viscoelasticity, tone, or sensory function. Fifteen of 22 patients with IMR were successfully managed with laxatives or enemas, but seven required surgery. Two of seven patients with IMC required surgery, including one for sigmoid volvulus. CONCLUSIONS: Patients with IMR differ clinically, diagnostically, and in their outcome from patients with IMC. These conditions demand specific investigation, and intensive treatment, to achieve optimum care. PMID:9274479

  18. Clinical, morphologic, and immunohistochemical features of canine orbital hibernomas.

    PubMed

    Ravi, M; Schobert, C S; Kiupel, M; Dubielzig, R R

    2014-05-01

    Hibernomas are uncommon benign tumors of brown fat that occur in humans and various animal species. They have not been observed in the orbit of dogs, humans, or other animals. Here we report clinical, light and electron microscopic, and immunohistochemical features of a series of 7 hibernomas arising in the orbital region of dogs. These neoplasms occurred in adult dogs with no breed predilection. The mean age of the affected dogs was 10.4 years (range, 8-13 years). All neoplasms presented as soft lobular masses composed of predominantly round or polygonal neoplastic cells with granular eosinophilic and vacuolated cytoplasm resembling adipocytes. The cytoplasm contained large numbers of pleomorphic mitochondria with dense matrices and indistinct cristae. Immunohistochemical evaluation confirmed positive labeling of neoplastic cells from all cases with uncoupling protein 1 (UCP-1) consistent with brown fat differentiation. Interestingly, rare neoplastic cells also expressed myogenin and myoD, possibly suggesting a common progenitor cell for neoplastic brown adipose and skeletal muscle cells. PMID:23794150

  19. Malformations of cortical development: clinical features and genetic causes.

    PubMed

    Guerrini, Renzo; Dobyns, William B

    2014-07-01

    Malformations of cortical development are common causes of developmental delay and epilepsy. Some patients have early, severe neurological impairment, but others have epilepsy or unexpected deficits that are detectable only by screening. The rapid evolution of molecular biology, genetics, and imaging has resulted in a substantial increase in knowledge about the development of the cerebral cortex and the number and types of malformations reported. Genetic studies have identified several genes that might disrupt each of the main stages of cell proliferation and specification, neuronal migration, and late cortical organisation. Many of these malformations are caused by de-novo dominant or X-linked mutations occurring in sporadic cases. Genetic testing needs accurate assessment of imaging features, and familial distribution, if any, and can be straightforward in some disorders but requires a complex diagnostic algorithm in others. Because of substantial genotypic and phenotypic heterogeneity for most of these genes, a comprehensive analysis of clinical, imaging, and genetic data is needed to properly define these disorders. Exome sequencing and high-field MRI are rapidly modifying the classification of these disorders. PMID:24932993

  20. Clinical Features and Outcomes Differ between Skeletal and Extraskeletal Osteosarcoma

    PubMed Central

    Thampi, Sheila; Matthay, Katherine K.; Boscardin, W. John; Goldsby, Robert; DuBois, Steven G.

    2014-01-01

    Background. Extraskeletal osteosarcoma (ESOS) is a rare subtype of osteosarcoma. We investigated patient characteristics, overall survival, and prognostic factors in ESOS. Methods. We identified cases of high-grade osteosarcoma with known tissue of origin in the Surveillance, Epidemiology, and End Results database from 1973 to 2009. Demographics were compared using univariate tests. Overall survival was compared with log-rank tests and multivariate analysis using Cox proportional hazards methods. Results. 256/4,173 (6%) patients with high-grade osteosarcoma had ESOS. Patients with ESOS were older, were more likely to have an axial tumor and regional lymph node involvement, and were female. Multivariate analysis showed ESOS to be favorable after controlling for stage, age, tumor site, gender, and year of diagnosis [hazard ratio 0.75 (95% CI 0.62 to 0.90); p = 0.002]. There was an interaction between age and tissue of origin such that older patients with ESOS had superior outcomes compared to older patients with skeletal osteosarcoma. Adverse prognostic factors in ESOS included metastatic disease, larger tumor size, older age, and axial tumor site. Conclusion. Patients with ESOS have distinct clinical features but similar prognostic factors compared to skeletal osteosarcoma. Older patients with ESOS have superior outcomes compared to older patients with skeletal osteosarcoma. PMID:25294959

  1. Delta hepatitis: molecular biology and clinical and epidemiological features.

    PubMed Central

    Polish, L B; Gallagher, M; Fields, H A; Hadler, S C

    1993-01-01

    Hepatitis delta virus, discovered in 1977, requires the help of hepatitis B virus to replicate in hepatocytes and is an important cause of acute, fulminant, and chronic liver disease in many regions of the world. Because of the helper function of hepatitis delta virus, infection with it occurs either as a coinfection with hepatitis B or as a superinfection of a carrier of hepatitis B surface antigen. Although the mechanisms of transmission are similar to those of hepatitis B virus, the patterns of transmission of delta virus vary widely around the world. In regions of the world in which hepatitis delta virus infection is not endemic, the disease is confined to groups at high risk of acquiring hepatitis B infection and high-risk hepatitis B carriers. Because of the propensity of this viral infection to cause fulminant as well as chronic liver disease, continued incursion of hepatitis delta virus into areas of the world where persistent hepatitis B infection is endemic will have serious implications. Prevention depends on the widespread use of hepatitis B vaccine. This review focuses on the molecular biology and the clinical and epidemiologic features of this important viral infection. PMID:8358704

  2. Mucocele and fibroma: treatment and clinical features for differential diagnosis.

    PubMed

    Valério, Rodrigo Alexandre; de Queiroz, Alexandra Mussolino; Romualdo, Priscila Coutinho; Brentegani, Luiz Guilherme; de Paula-Silva, Francisco Wanderley Garcia

    2013-01-01

    Mucocele is a benign lesion occurring in the buccal mucosa as a result of the rupture of a salivary gland duct and consequent outpouring of mucin into soft tissue. It is usually caused by a local trauma, although in many cases the etiology is uncertain. Mucocele is more commonly found in children and young adults, and the most frequent site is the lower inner portion of the lips. Fibroma, on the other hand, is a benign tumor of fibrous connective tissue that can be considered a reactionary connective tissue hyperplasia in response to trauma and irritation. They usually present hard consistency, are nodular and asymptomatic, with a similar color to the mucosa, sessile base, smooth surface, located in the buccal mucosa along the line of occlusion, tongue and lip mucosa. Conventional treatment for both lesions is conservative surgical excision. Recurrence rate is low for fibroma and high for oral mucoceles. This report presents a series of cases of mucocele and fibroma treated by surgical excision or enucleation and the respective follow-up routine in the dental clinic and discusses the features to be considered in order to distinguish these lesions from each other. PMID:24474300

  3. Stratigraphic architectures spotted in southern Melas Chasma, Valles Marineris, Mars

    NASA Astrophysics Data System (ADS)

    Dromart, Gilles; Quantin, Cathy; Broucke, Olivier

    2007-04-01

    The distribution in space and time of liquid water on Mars is relevant to astrobiology and astroclimatology. To date, most orbital observations that attest to past fluvial and lacustrine activity on Mars have been dedicated to surficial landforms (i.e., drainage networks and depositional fans). Here we report an unprecedented identification of typical stratigraphic architectures made in Mars Global Surveyor Mars Orbiter Camera images of layered material in southern Melas Chasma. A particular set of strata is arranged in three depositional sequences bounded by stratigraphic unconformities. The sequences show spectacular steeply inclined clinoforms, and a broad channel-like depression. There are the same complex stratal patterns in Valles Marineris on Mars as there are in terrestrial deposits. Insights into these three-dimensional deposit geometries are used to tentatively isolate specific depositional processes and point to ancient subaqueous settings. Findings in southern Melas indicate a very attractive spot to which the search for ancient habitable environments on Mars could be directed.

  4. Intestinal helminth communities of the long-finned pilot whale (Globicephala melas) off the Faroe Islands.

    PubMed

    Balbuena, J A; Raga, J A

    1993-04-01

    The intestines of 170 long-finned pilot whales, Globicephala melas, caught off the Faroe Islands (N.E. Atlantic) were examined for helminth parasites. Eight species were detected but only 4 occurred in at least 10% of the sample. No core or recurrent group of species were identified and no correlations between abundances of species were significant. Diversity values were far below those reported for other endotherms. Colonization by helminths was random, whales not being readily colonized. These features point to largely unpredictable, isolationist infracommunities, there being little potential for inter-specific interactions. Older hosts tended to harbour more diverse infracommunities, offering more opportunities for such interactions. Two hypotheses, which might also apply to other cetaceans, are proposed to account for the depauperate helminth communities of the pilot whale: (i) some ancestral helminth species failed to adapt their cycles to the marine habitat and (ii) the hosts' isolation from land prohibited new infections with helminths of mammals. PMID:8488068

  5. Clinical Features: The hallmark feature seen in patients with TUBB2B mutations is asymmetric polymicrogyria (PMG) [OMIM

    E-print Network

    Das, Soma

    2/11 Clinical Features: The hallmark feature seen in patients with TUBB2B mutations is asymmetric polymicrogyria (PMG) [OMIM #610031]. PMG is a brain malformation with numerous small gyri separated by shallow sulci, creating a cobblestone appearance. PMG in these patients is usually bilateral, asymmetric

  6. Clinical Features: The hallmark features seen in patients with OPHN1 mutations include moderate to severe mental retardation and

    E-print Network

    Das, Soma

    in early childhood, who then develop moderate to severe mental retardation. About half of all patients in patients with X-linked mental retardation with cerebellar hypoplasia [1,2]. OPHN1 has 23 coding exons12/12 Clinical Features: The hallmark features seen in patients with OPHN1 mutations include

  7. Clinical Features: The hallmark feature seen in patients with TUBB2B mutations is asymmetric polymicrogyria (PMG) [OMIM

    E-print Network

    Gilad, Yoav

    6/11 Clinical Features: The hallmark feature seen in patients with TUBB2B mutations is asymmetric polymicrogyria (PMG) [OMIM #610031]. PMG is a brain malformation with numerous small gyri separated by shallow sulci, creating a cobblestone appearance. PMG in these patients is usually bilateral, asymmetric

  8. Clinical Features: The hallmark features seen in patients with OPHN1 mutations include moderate to severe mental retardation and

    E-print Network

    Gilad, Yoav

    in early childhood, who then develop moderate to severe mental retardation. About half of all patients8/08 Clinical Features: The hallmark features seen in patients with OPHN1 mutations include moderate to severe mental retardation and cerebellar hypoplasia [OMIM #300486], particularly cerebellar

  9. Clinical Features: The hallmark features seen in patients with OPHN1 mutations include moderate to severe mental retardation and

    E-print Network

    Gilad, Yoav

    in early childhood, who then develop moderate to severe mental retardation. About half of all patients, or oligophrenin-1, have been identified in patients with X-linked mental retardation with cerebellar hypoplasia [16/11 Clinical Features: The hallmark features seen in patients with OPHN1 mutations include

  10. Clinical Features: The hallmark feature seen in patients with TUBB2B mutations is asymmetric polymicrogyria (PMG) [OMIM

    E-print Network

    Das, Soma

    1/13 Clinical Features: The hallmark feature seen in patients with TUBB2B mutations is asymmetric polymicrogyria (PMG) [OMIM #610031]. PMG is a brain malformation with numerous small gyri separated by shallow sulci, creating a cobblestone appearance. PMG in these patients is usually bilateral, asymmetric

  11. Clinical Features: The hallmark feature seen in patients with TUBB2B mutations is asymmetric polymicrogyria (PMG) [OMIM

    E-print Network

    Das, Soma

    12/12 Clinical Features: The hallmark feature seen in patients with TUBB2B mutations is asymmetric polymicrogyria (PMG) [OMIM #610031]. PMG is a brain malformation with numerous small gyri separated by shallow sulci, creating a cobblestone appearance. PMG in these patients is usually bilateral, asymmetric

  12. Clinical features of macrocephaly at birth in Korea

    PubMed Central

    Kim, Minkyun; Han, Byoung Hee

    2014-01-01

    Purpose This study aimed to investigate the clinical features of macrocephaly at birth in Korea using ultrasonography. Methods We retrospectively investigated the medical records of full-term birth neonates in Cheil General Hospital & Women's Healthcare Center from January 2000 to June 2012. The following parameters were recorded and analyzed: gestational age, sex, birth weight, height, occipitofrontal circumference (OFC), physical examination, perinatal problems, and ultrasonography results. Macrocephaly was diagnosed when the OFC was greater than two standard deviations, based on the 2007 Korean National Growth Charts. Results There were 75 neonates with macrocephaly at birth (52 boys and 23 girls), with a mean OFC of 38.1±0.49 cm. A comparison of the birth weight and height with the OFC value showed that height was correlated with OFC (r=0.35) but birth weight was not correlated with OFC (r=0.06). There were no remarkable findings in 56 cases (75%). Germinal matrix hemorrhage was identified in 10 cases (13%). An enlarged cerebrospinal fluid space was found in 5 cases (6.7%). There were 3 cases of mega-cisterna magna (4%), 1 case of ventriculomegaly, and 1 case of an enlarged interhemispheric space (6 mm) among these patients. In addition, a choroid plexus cyst was seen in 1 case. Mineralizing vasculopathy in both basal ganglia with no evidence of congenital infection was found in 2 cases and an asymptomatic subarachnoid hemorrhage was found in 1 case. Conclusion Our results indicate that macrocephaly at birth has benign ultrasonography findings and shows a pattern of male dominance. PMID:24678331

  13. 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

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

    PubMed Central

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

    2014-01-01

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

  15. Pseudohypoaldosteronism type 1: clinical features and management in infancy

    PubMed Central

    Amin, N; Alvi, N S; Barth, J H; Field, H P; Finlay, E; Tyerman, K; Frazer, S; Savill, G; Wright, N P; Makaya, T; Mushtaq, T

    2013-01-01

    Summary Type 1 pseudohypoaldosteronism (PHA) is a rare heterogeneous group of disorders characterised by resistance to aldosterone action. There is resultant salt wasting in the neonatal period, with hyperkalaemia and metabolic acidosis. Only after results confirm isolated resistance to aldosterone can the diagnosis of type 1 PHA be confidently made. Type 1 PHA can be further classified into i) renal type 1 (autosomal dominant (AD)) and ii) multiple target organ defect/systemic type 1 (autosomal recessive (AR)). The aim of this case series was to characterise the mode of presentation, management and short-term clinical outcomes of patients with PHA type 1. Case notes of newly diagnosed infants presenting with PHA type 1 were reviewed over a 5-year time period. Seven patients were diagnosed with PHA type 1. Initial presentation ranged from 4 to 28 days of age. Six had weight loss as a presenting feature. All subjects had hyperkalaemia, hyponatraemia, with elevated renin and aldosterone levels. Five patients have renal PHA type 1 and two patients have systemic PHA type, of whom one has had genetic testing to confirm the AR gene mutation on the SCNN1A gene. Renal PHA type 1 responds well to salt supplementation, whereas management of patients with systemic PHA type 1 proves more difficult as they are likely to get frequent episodes of electrolyte imbalance requiring urgent correction. Learning points Patients with type 1 PHA are likely to present in the neonatal period with hyponatraemia, hyperkalaemia and metabolic acidosis and can be diagnosed by the significantly elevated plasma renin activity and aldosterone levels.The differential diagnosis of type 1 PHA includes adrenal disorders such as adrenal hypoplasia and congenital adrenal hyperplasia; thus, adrenal function including cortisol levels, 17-hydroxyprogesterone and a urinary steroid profile are required. Secondary (transient) causes of PHA may be due to urinary tract infections or renal anomalies; thus, urine culture and renal ultrasound scan are required respectively.A differentiation between renal and systemic PHA type 1 may be made based on sodium requirements, ease of management of electrolyte imbalance, sweat test results and genetic testing.Management of renal PHA type 1 is with sodium supplementation, and requirements often decrease with age.Systemic PHA type 1 requires aggressive and intensive fluid and electrolyte management. Securing an enteral feeding route and i.v. access are essential to facilitate ongoing therapy.In this area of the UK, the incidence of AD PHA and AR PHA was calculated to be 1:66?000 and 1:166?000 respectively. PMID:24616761

  16. Exertional dyspnea in mitochondrial myopathy: clinical features and physiological mechanisms

    PubMed Central

    Taivassalo, Tanja; Wyrick, Phil; Wood, Helen; Babb, Tony G.; Haller, Ronald G.

    2011-01-01

    Exertional dyspnea limits exercise in some mitochondrial myopathy (MM) patients, but the clinical features of this syndrome are poorly defined, and its underlying mechanism is unknown. We evaluated ventilation and arterial blood gases during cycle exercise and recovery in five MM patients with exertional dyspnea and genetically defined mitochondrial defects, and in four control subjects (C). Patient ventilation was normal at rest. During exercise, MM patients had low V?o2peak (28 ± 9% of predicted) and exaggerated systemic O2 delivery relative to O2 utilization (i.e., a hyperkinetic circulation). High perceived breathing effort in patients was associated with exaggerated ventilation relative to metabolic rate with high V?e/V?o2peak, (MM = 104 ± 18; C = 42 ± 8, P ? 0.001), and V?e/V?co2peak, (MM = 54 ± 9; C = 34 ± 7, P ? 0.01); a steeper slope of increase in ?V?e/?V?co2 (MM = 50.0 ± 6.9; C = 32.2 ± 6.6, P ? 0.01); and elevated peak respiratory exchange ratio (RER), (MM = 1.95 ± 0.31, C = 1.25 ± 0.03, P ? 0.01). Arterial lactate was higher in MM patients, and evidence for ventilatory compensation to metabolic acidosis included lower PaCO2 and standard bicarbonate. However, during 5 min of recovery, despite a further fall in arterial pH and lactate elevation, ventilation in MM rapidly normalized. These data indicate that exertional dyspnea in MM is attributable to mitochondrial defects that severely impair muscle oxidative phosphorylation and result in a hyperkinetic circulation in exercise. Exaggerated exercise ventilation is indicated by markedly elevated V?e/V?o2, V?e/V?co2, and RER. While lactic acidosis likely contributes to exercise hyperventilation, the fact that ventilation normalizes during recovery from exercise despite increasing metabolic acidosis strongly indicates that additional, exercise-specific mechanisms are responsible for this distinctive pattern of exercise ventilation. PMID:21813873

  17. Turner syndrome and female sex chromosome aberrations: deduction of the principal factors involved in the development of clinical features

    Microsoft Academic Search

    Tsutomu Ogata; Nobutake Matsuo

    1995-01-01

    Although clinical features in Turner syndrome have been well defined, underlying genetic factors have not been clarified. To deduce the factors leading to the development of clinical features, we took the following four steps: (1) assessment of clinical features in classic 45,X Turner syndrome; (2) review of clinical features in various female sex chromosome aberrations (karyotype-phenotype correlations); (3) assessment of

  18. Clinical Features of Acute Allergic Reactions to Peanut and Tree Nuts in Children

    Microsoft Academic Search

    Scott H. Sicherer; A. Wesley Burks; Hugh A. Sampson

    Background. Peanut (PN) and tree nut (TN) allergies are potentially life-threatening, rarely out- grown, and appear to be increasing in prevalence. How- ever, there is relatively little reported about the clinical features of acute reactions to these foods and their po- tential association. Objective. To describe the clinical features of acute reactions during initial and subsequent accidental inges- tions of

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

    E-print Network

    Lewis, Amanda L.

    Clinical Features of Bacterial Vaginosis in a Murine Model of Vaginal Infection with Gardnerella: Gilbert NM, Lewis WG, Lewis AL (2013) Clinical Features of Bacterial Vaginosis in a Murine Model bacterial vaginosis (BV) [1], a microbial imbalance of the vaginal flora characterized by the absence

  20. Clinical features of radiation-induced carotid atherosclerosis.

    PubMed

    Gujral, D M; Shah, B N; Chahal, N S; Senior, R; Harrington, K J; Nutting, C M

    2014-02-01

    Carotid arteries frequently receive significant incidental doses of radiation during the treatment of malignant diseases, including head and neck cancer, breast cancer and lymphoma. Vascular injury after treatment may result in carotid artery stenosis and increased risk of neurological sequelae, such as stroke and transient ischaemic attack. The long latent interval from treatment to the development of clinical complications makes investigation of this process difficult, particularly in regard to the design of interventional clinical studies. Nevertheless, there is compelling clinical evidence that radiation contributes to carotid atherosclerosis. This overview examines the effect of radiotherapy on the carotid arteries, the underlying pathological processes and their clinical manifestations. The use of serum biomarkers in risk-prediction models and the potential value of new imaging techniques as tools for defining earlier surrogate end points will also be discussed. PMID:24188597

  1. Multicentric reticulohistiocytosis presenting with clinical features of dermatomyositis.

    PubMed

    Hsiung, Sherry H; Chan, Edward F; Elenitsas, Rosalie; Kolasinski, Sharon L; Schumacher, H Ralph; Werth, Victoria P

    2003-02-01

    Multicentric reticulohistiocytosis (MRH) is a rare disorder with proliferating histiocytes that develop into multinucleated giant cells with "ground-glass" cytoplasm. The disease presents with a rapidly destructive, sometimes permanently debilitating, polyarthritis and a papulonodular eruption, generally of the face and hands. We present 3 cases of MRH in which the initial clinical diagnosis was thought to be dermatomyositis (DM). The cutaneous findings in these cases included an erythematous, predominantly photodistributed macular and papular eruption clinically consistent with DM. However, skin biopsy specimens revealed the diagnosis of MRH. This previously unreported clinical similarity between MRH and DM is significant because the treatment options and future complications vary greatly between the 2 diseases. Thus, it is important to consider the possibility of multicentric reticulohistiocytosis when evaluating a patient with the clinical diagnosis of dermatomyositis. PMID:12582374

  2. Improving clinical practice using clinical decision support systems: a systematic review of trials to identify features critical to success

    Microsoft Academic Search

    Kensaku Kawamoto; Caitlin A Houlihan; E Andrew Balas; David F Lobach

    2005-01-01

    Objective To identify features of clinical decision support systems critical for improving clinical practice. Design Systematic review of randomised controlled trials. Data sources Literature searches via Medline, CINAHL, and the Cochrane Controlled Trials Register up to 2003; and searches of reference lists of included studies and relevant reviews. Study selection Studies had to evaluate the ability of decision support systems

  3. Congenital Esophageal Stenosis: Clinical and Endoscopic Features in Adults

    Microsoft Academic Search

    Ziad Younes; David A. Johnson

    1999-01-01

    Background: Congenital esophageal stenosis (CES) is an uncommon anomaly that reportedly rarely goes undiagnosed until adulthood. One variant of CES includes patients with multiple cartilaginous rings described usually in the mid‐distal esophagus. Methods: Ten patients with CES seen over the past 7 years were interviewed and their clinical and endoscopic records reviewed. Results: Eight patients were male and age at

  4. [Diabetic retinopathy: clinical features and new therapeutic findings].

    PubMed

    Rasquin, F

    2003-09-01

    Diabetic retinopathy remains today a leading cause of blindness. Dramatic progress during the past three decades led to the classification of diabetic retinopathy, to provide guidelines of screening and follow-up, to determine risk factors of progression of retinopathy and to propose treatment strategies. This paper reviews clinical and therapeutical knowledge about this topic. PMID:14606295

  5. Heart Failure in Diabetes mellitus: Clinical Features and Prognostic Implications

    Microsoft Academic Search

    Oleg Gorelik; Dorit Almoznino-Sarafian; Irena Alon; Miriam Shteinshnaider; Shulamit Chachashvily; Irma Tzur; David Modai; Natan Cohen

    2005-01-01

    We defined the prevalence and impact on survival of clinical bedside variables in 385 patients with symptomatic congestive heart failure (CHF), of whom there were 176 with and 209 without diabetes mellitus. Patients were consecutively hospitalized and admitted for various acute conditions. Following discharge all-cause mortality was recorded. Prevalence and association of various variables with mortality were statistically analyzed. Prevailing

  6. 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...

  7. 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…

  8. Multicentric reticulohistiocytosis presenting with clinical features of dermatomyositis

    Microsoft Academic Search

    Sherry H. Hsiung; Edward F. Chan; Rosalie Elenitsas; Sharon L. Kolasinski; H. Ralph Schumacher; Victoria P. Werth

    2003-01-01

    Multicentric reticulohistiocytosis (MRH) is a rare disorder with proliferating histiocytes that develop into multinucleated giant cells with “ground-glass” cytoplasm. The disease presents with a rapidly destructive, sometimes permanently debilitating, polyarthritis and a papulonodular eruption, generally of the face and hands. We present 3 cases of MRH in which the initial clinical diagnosis was thought to be dermatomyositis (DM). The cutaneous

  9. Acute exacerbation of idiopathic pulmonary fibrosis: frequency and clinical features

    Microsoft Academic Search

    D. S. Kim; J. H. Park; B. K. Park; J. S. Lee; A. G. Nicholson; T. Colby

    2006-01-01

    Although acute exacerbations of idiopathic pulmonary fibrosis are well recognised, there are no studies documenting their prevalence or identifying pre-existing risk factors. This study analysed the clinical, radiological and pathological data of 11 patients who satisfied the criteria for acute exacerbation among 147 patients with biopsy-proven idiopathic pulmonary fibrosis. There were five additional patients who had similar demographics, radiology and

  10. Metastatic bone disease: clinical features, pathophysiology and treatment strategies

    Microsoft Academic Search

    R. E. Coleman

    2001-01-01

    Metastatic bone disease develops as a result of the many interactions between tumour cells and bone cells. This leads to disruption of normal bone metabolism, with the increased osteoclast activity seen in most, if not all, tumour types providing a rational target for treatment. The clinical course of metastatic bone disease in multiple myeloma, breast and prostate cancers is relatively

  11. Clinical features and multidisciplinary approaches to dementia care

    PubMed Central

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

    2011-01-01

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

  12. Clinical and laboratory features of viral hepatitis A in children.

    PubMed

    Blechová, Zuzana; Trojánek, Milan; Kyn?l, Jan; Cástková, Jitka; John, Jerry; Malý, Marek; Herrmannová, Kristýna; Marešová, Vilma

    2013-02-01

    Recent outbreaks of viral hepatitis A in non-endemic European countries and the potential outbreak risk in susceptible populations has led us to evaluate the clinical characteristics of children hospitalised with hepatitis A. Retrospective study included 118 children (68 boys and 50 girls) with the mean age of 8.5 years hospitalised at Hospital Na Bulovce in Prague from June 2008 to June 2009. The clinical course was symptomatic icteric in 57 (48.3 %) children, symptomatic anicteric in 23 (19.5 %), subclinical in 22 (18.6 %) and asymptomatic inapparent in 16 (13.6 %). The relapse of the disease occurred in three patients. There were no cases of fulminant hepatitis. The most frequent symptoms included jaundice (57 cases), abdominal pain/discomfort (38), vomiting (38), dark urine (37), subfebrility (29) and fever (25). Hepatic injury markers were substantially elevated in icteric patients, but moderate elevations were identified in anicteric and subclinical cases as well. Lower white blood cell and lymphocyte counts were independently associated with symptomatic and more severe clinical course. Active immunisation was provided to 22 patients, and as a post-exposure prophylaxis to 19 of them. The clinical course and laboratory parameters in vaccinated children were not significantly different from non-vaccinated children. The clinical course of hepatitis A was largely self-limiting and benign. Asymptomatic infections are frequent, representing risk for disease spread; however, they are associated with elevations of hepatic injury markers. The inclusion of significant proportion of asymptomatic cases that were identified and investigated only because of active epidemiological surveillance in the outbreak focus represents the particular asset of this study. PMID:23358879

  13. Extracting BI-RADS Features from Portuguese Clinical Texts

    PubMed Central

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

    2013-01-01

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

  14. 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

  15. 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

  16. Myelofibrosis: Review of clinical and pathological features in fourteen dogs

    PubMed Central

    Hoff, Brent; Lumsden, John H.; Valli, Victor E.O.; Kruth, Stephen A.

    1991-01-01

    A clinicopathological study was performed on 14 dogs with myelofibrosis (MF), in order to correlate clinical, laboratory, and histomorphological parameters and investigate factors of prognostic significance. The clinical signs included fatigue, weight loss, anorexia, and diarrhea. Physical findings included pale mucous membranes and wasting/emaciation. The major laboratory observations were moderate to severe, poorly-responsive anemia with various degrees of marrow cellularity and fibrosis. All dogs with severe, non-responsive anemia should have a bone marrow core biopsy, stained for connective tissue, in order to detect myelofibrosis. Myelofibrosis regressed in six dogs. ImagesFigure 1aFigure 1bFigure 1cFigure 1d PMID:17423803

  17. Clinical, Biological, and Imaging Features of Monogenic Alzheimer's Disease

    PubMed Central

    Padovani, Alessandro; Borroni, Barbara

    2013-01-01

    The discovery of monogenic forms of Alzheimer's Disease (AD) associated with mutations within PSEN1, PSEN2, and APP genes is giving a big contribution in the understanding of the underpinning mechanisms of this complex disorder. Compared with sporadic form, the phenotype associated with monogenic cases is somewhat broader including behavioural disturbances, epilepsy, myoclonus, and focal presentations. Structural and functional imaging show typical early changes also in presymptomatic monogenic carriers. Amyloid imaging and CSF tau/A? ratio may be useful in the differential diagnosis with other neurodegenerative dementias, especially, in early onset cases. However, to date any specific biomarkers of different monogenic cases have been identified. Thus, in clinical practice, the early identification is often difficult, but the copresence of different elements could help in recognition. This review will focus on the clinical and instrumental markers useful for the very early identification of AD monogenic cases, pivotal in the development, and evaluation of disease-modifying therapy. PMID:24377094

  18. Induratio penis plastica Peyronie's disease. Clinical features and etiology.

    PubMed

    Byström, J; Rubio, C

    1976-01-01

    The clinical and laboratory findings in 106 patients with Peyronie's disease as well as histopathological examinations of biopsies from the plaques were studied. The clinical symptoms and signs were in general similar to those found in previous studies, but bone marrow smears showed an increased number of plasma cells and lymphocytes in 18 of 24 examined. Biopsy of the plaque in cases of long-term symptomatology disclosed a fibrosis poor in cellular components. In patients with a short history of the disease and a tender induration, an inflammatory component of the specimens with perivascular accumulation of lymphocytes and balooning of endothelial cells in the small vessels was seen. Characteristic cells with "cross-banded" nuclei, described earlier only in Dupuytren's contracture and experimental fibrosis, was observed for the first time in Peyronie's disease. Based on these findings a combined traumatic-immunological etiology is suggested. PMID:1273527

  19. Differential Diagnosis, Clinical Features, and Prognosis of Multiple Sclerosis

    Microsoft Academic Search

    Michael J. Olek

    The diagnosis and prognosis of multiple sclerosis (MS) has changed dramatically over the years from the first descriptions\\u000a from St. Lidwina of Schiedam (1380–1433) and Augustus D’Este (grandson of George III) between 1822 and 1848 to the pathological\\u000a descriptions of Cruveilhier (1829–1842) and Carswell (1838). Serious study and synthesis of clinical and pathological human\\u000a MS began with the work of

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

    PubMed Central

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

    2012-01-01

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

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

    PubMed

    Judson, Marc A

    2014-10-01

    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

  2. [Changed etiopathogenic and clinical features of infective endocarditis].

    PubMed

    Altucci, P; Abbate, G F; Ciaramella, F; Gallo, C; Iacono, A; Giannini, V; Visco, G

    1994-12-01

    The authors report their experience on etiological and clinical aspects of infective endocarditis (IE). A series of 182 consecutive patients, including 83 cases of medical IE, 73 cases of IE in intravenous drug abusers (DA), 22 cases of IE on late prosthetic valves and 4 cases of IE on early prosthetic valves were evaluated since 1976. Medical IE occurred frequently in the elderly patients and in most of the cases (80%) involved natural valves with underlying abnormalities, either rheumatic (42%) or degenerative (33%) or malphormative (25%). Pre-existing valvular pathology was not needed for IE in DA, occurring in 13%, mainly due to a previous IE. In most of the cases IE in DA was a staphylococcal IE (80%) and a right-sided IE (77%). Streptococci were frequent agent both in medical and late prosthetic valves IE (55%): however, a wide pattern of microorganisms, including "unusual" pathogens like nutritionally variant Streptococci, Haemophylus parainfluenzae, Haemophylus paraphrophylus, Coxiella burnetii and the so-called "non pathogen microorganisms" (e.g. Neisseria sicca) was identified as etiological agent. As regards the clinical approach and diagnosis, the Authors underline some atypical clinical presentations of IE: the pulmonary presentation, occurring in right-sided IE, mainly in DA; the neurological presentation, suggesting staphylococcal etiology and left-sided IE; the vasculitis presentation, miming connective tissue diseases; the cardiac presentation, observed in aortic localization (1 case). One or more severe complications occurred in 65% of the patients, contributing to adverse outcomes.(ABSTRACT TRUNCATED AT 250 WORDS) PMID:7634278

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

    PubMed Central

    2013-01-01

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

  4. Clinical, imaging and histopathological features of isolated CNS lymphomatoid granulomatosis

    PubMed Central

    Patil, Anil Kumar; Alexander, Mathew; Nair, Bijesh; Chacko, Geeta; Mani, Sunithi; Sudhakar, Sniya

    2015-01-01

    Lymphomatoid granulomatosis is a rare systemic angiocentric/angiodestructive, B cell lymphoproliferative disorder. Central nervous system involvement occurs as part of systemic disease. Isolated central nervous system disease is rare with only few case reports. A 53-year-old male presented with progressive cognitive decline, extrapyramidal features, and altered sensorium with seizures over the last 4 years. His magnetic resonance imaging (MRI) of brain showed multiple small enhancing nodules in subependymal/ependymal regions and along the vessels. Brain biopsy showed atypical lymphohistiocytic infiltrate suggestive of lymphomatoid granulomatosis. There was no evidence of systemic disease; thus, isolated central nervous system lymphomatoid granulomatosis was diagnosed. PMID:25709167

  5. 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

  6. Clinical features and successful recovery from disseminated nocardiosis after BMT.

    PubMed

    Machado, C M; Macedo, M C; Castelli, J B; Ostronoff, M; Silva, A C; Zambon, E; Massumoto, C; Chamone, D F; Dulley, F L

    1997-01-01

    Nocardiosis has rarely been described after BMT. When the doses of immunosuppressive therapy were tapered, a 46-year-old BMT recipient developed chronic graft-versus-host disease (GVHD) and immunosuppresive drugs were increased. Sixteen days later the patient developed nocardiosis diagnosed by lung biopsy. Trimethoprim/sulfamethoxazole (TMP/SMZ) was initiated but the doses were reduced because of rising creatinine levels. Skin and cerebral dissemination of nocardiosis was observed and TMP/SMZ doses were increased. After 4 months, the brain lesion was unaltered despite resolution of pulmonary lesions. Clinical improvement was observed after drainage of the brain abscess. PMID:9012936

  7. [Clinical features and diagnostic criteria of bulimia nervosa].

    PubMed

    Marilov, V V; Sologub, M B

    2006-01-01

    Based on the results of the clinical follow-up study of 41 female patients, diagnostic criteria of bulimia nervosa that should be used in clinical studies are suggested as follows: (1) presence of anorexia nervosa or transitory amenorrhea in the premorbid period; (2) eating attacks with losing of the control over food consumption not less than twice a week during 3 months; (3) compensatory behavior in the form of spontaneous vomiting, abuse of purgative and diuretic medications etc; (4) fear of obesity; (5) cycloid affective changes with higher impulsivity, reduction of the control over primitive drives and/or expressed anxiety disorders; inclination to alcohol and drug abuse and nicotine dependence; (6) changes of the body mass index; (7) absence of amenorrhea. The disease dynamics is characterized by formation of the pathological cycle "diet--overeating--compensatory behavior" on the background of cyclothymic affective disorders. Two types of bulimia nervosa--with and without other drive disorders--have been singled out. PMID:16841479

  8. [Clinical features of myelitis in patients with atopic symptoms].

    PubMed

    Furuya, T; Miwa, H; Hatano, T; Miyashita, N; Tanaka, S; Mizuno, Y

    2001-03-01

    It is rare to see atopic symptoms in patients with multiple sclerosis(MS). However, it has been reported that in atopic patients, particularly in patients with atopic dermatitis, a benign myelitis occasionally occurs. In the present report, three atopic patients with myelitis were studied clinically and neuroradiologically. All the patients were adult men(Case 1, 2, and 3 were 41-year-old, 31-year-old, and 34-year-old, respectively), and all of them had bronchial asthma without histories of atopic dermatitis. Their manifestations were not severe and were only numbness of upper and/or lower extremities. There was no motor weakness, ataxia, or urinary incontinence. MRI studies revealed a T2-high intensity lesion in the high cervical spinal cord in the two patients(Case 2 and 3) and a T2-high intensity lesion in the lumber spinal cord in the remaining patient(Case 1). Their clinical courses were essentially all benign and well responsive to steroid therapy. Although myelitis of these patients may be a first attack of MS, their findings appear to support a recently emerging concept of the atopic myelitis. PMID:11296397

  9. Acute gastroenteritis: clinical features according to etiologic agents.

    PubMed

    Khuffash, F A; Sethi, S K; Shaltout, A A

    1988-08-01

    The clinical manifestations in 595 children hospitalized with gastroenteritis during a 15-month time frame were studied. They were divided into eight groups according to etiologic agent: rotavirus (203 patients); Salmonellae (98); Escherichia coli (55); Campylobacter (36); Shigella (22); combined rotavirus and salmonellae (44); combined rotavirus and other bacteria (26); and no pathogen (111). The mean duration of diarrhea was shortest in the rotavirus and "no pathogen" groups (4.8 and 5.6 days, respectively) and longest with pure and mixed salmonella infections (12.3 and 12.9 days, respectively). Associated manifestations were most frequent with salmonellae and least frequent with rotavirus and E. coli infections. Malnutrition also was most common with salmonellae and lowest with rotavirus and E. coli. There were no differences in the frequency of hypernatremia. Hyponatremia was most frequently encountered with salmonella (25% compared to 9% in the rest of the patients). Evidence of septicemia was found in 22 patients, 21 of whom were in the salmonella groups. The four deaths in this series (0.7%) also were in the salmonellae groups. The clinical severity of salmonella infection in developing countries, particularly in young and malnourished children, warrants attention to more intensive management. The selective use of antibiotics may help reduce the mortality and morbidity of gastroenteritis. PMID:3402153

  10. Microscopic Enteritis; clinical features and correlations with symptoms

    PubMed Central

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

    2012-01-01

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

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

    ERIC Educational Resources Information Center

    Collins, Edith; Turner, Gillian

    1973-01-01

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

  12. Clinical Features: Lissencephaly and subcortical band heterotopia (SBH) are brain malformations caused by deficient neuronal

    E-print Network

    Das, Soma

    11/09 Clinical Features: Lissencephaly and subcortical band heterotopia (SBH) are brain malformations caused by deficient neuronal migration. Lissencephaly--"smooth brain" with absent (agyria MRI scans and give recommendations regarding genetic testing. Please contact Mary King at 773

  13. 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

  14. Anatomical features and clinical relevance of a persistent trigeminal artery

    PubMed Central

    Alcalá-Cerra, Gabriel; Tubbs, R S; Niño-Hernández, Lucía M

    2012-01-01

    Background: Although persistent trigeminal artery (PTA) is uncommonly identified, knowledge of this structure is essential for clinicians who interpret cranial imaging, perform invasive studies of the cerebral vasculature, and operate this region. Methods: A review of the medical literature using standard search engines was performed to locate articles regarding the PTA, with special attention with anatomical descriptions. Results: Although anatomical reports of PTA anatomy are very scarce, those were analyzed to describe in detail the current knowledge about its anatomical relationships and variants. Additionally, the embryology, classification, clinical implications, and imaging modalities of this vessel are extensively discussed. Conclusions: Through a comprehensive review of isolated reports of the PTA, the clinician can better understand and treat patients with such an anatomical derailment. PMID:23087827

  15. Clinical and Molecular Features of POLG-Related Mitochondrial Disease

    PubMed Central

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

    2013-01-01

    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

  16. Congenital syphilis in The Netherlands: diagnosis and clinical features.

    PubMed Central

    Boot, J M; Oranje, A P; Menke, H E; van Eijk, R V; Stolz, E

    1989-01-01

    From 1982 to 1985 the 19S IgM-Fluorescent Treponemal Antibody Absorption (19S-IgM-FTA-ABS) test gave a positive result in 19 children. These 19 children plus one dizygotic twin sister were evaluated. Seventeen children were diagnosed as having congenital syphilis and treated. Clinical evidence was seen in 10 children, CSF abnormalities in seven, radiological abnormalities in eight. Of the 17 children treated, only one did not meet the Center for Disease Control (CDC) criteria of a compatible case of congenital syphilis. Of the children not diagnosed as having congenital syphilis, one child was considered to be a compatible case of congenital syphilis according to the CDC-criteria. The CDC-criteria may be a valuable aid in diagnosing congenital syphilis. Guidelines for adequate therapy are given. PMID:2684840

  17. Esophageal Involvement in Scleroderma: Clinical, Endoscopic, and Manometric Features

    PubMed Central

    Lahcene, M.; Oumnia, N.; Matougui, N.; Boudjella, M.; Tebaibia, A.; Touchene, B.

    2011-01-01

    Aim. To evaluate characteristics of esophageal involvement in scleroderma. Methods. The study was prospective and concerned 194 patients with a definite systemic sclerosis. Gastroesophageal endoscopy and esophageal manometry were performed in all the cases. Results. Symptoms were present in 118 cases (60.8%); they were signs of GERD or dysphagia, respectively, in 94 (48.4%) and 91 patients (46.9%). Reflux esophagitis was found in 73 cases (37.6%); it was mild or moderate in 47 cases (24.2%) and severe or complicated in the remaining cases. Manometry revealed a lower esophageal sphincter incompetence and esophageal motor disorders, respectively, in 118 (60.8%) and 157 cases (80.9%). Presence of these late was not related to age, duration, or skin extension of the disease, but with clinical complaint and/or mucosal damage. Conclusion. Esophageal involvement is frequent during scleroderma. Manometry is the most sensible examination and could be a screening procedure. PMID:22389793

  18. Clinical and Laboratory Features of Human Plasmodium knowlesi Infection

    PubMed Central

    Daneshvar, Cyrus; Davis, Timothy M. E.; Cox-Singh, Janet; Rafa’ee, Mohammad Zakri; Zakaria, Siti Khatijah; Divis, Paul C. S.; Singh, Balbir

    2010-01-01

    Background Plasmodium knowlesi is increasingly recognized as a cause of human malaria in Southeast Asia but there are no detailed prospective clinical studies of naturally acquired infections. Methods In a systematic study of the presentation and course of patients with acute P. knowlesi infection, clinical and laboratory data were collected from previously untreated, nonpregnant adults admitted to the hospital with polymerase chain reaction–confirmed acute malaria at Kapit Hospital (Sarawak, Malaysia) from July 2006 through February 2008. Results Of 152 patients recruited, 107 (70%) had P. knowlesi infection, 24 (16%) had Plasmodium falciparum infection, and 21 (14%) had Plasmodium vivax. Patients with P. knowlesi infection presented with a nonspecific febrile illness, had a baseline median parasitemia value at hospital admission of 1387 parasites/?L (interquartile range, 6–222,570 parasites/?L), and all were thrombocytopenic at hospital admission or on the following day. Most (93.5%) of the patients with P. knowlesi infection had uncomplicated malaria that responded to chloroquine and primaquine treatment. Based on World Health Organization criteria for falciparum malaria, 7 patients with P. knowlesi infection (6.5%) had severe infections at hospital admission. The most frequent complication was respiratory distress, which was present at hospital admission in 4 patients and developed after admission in an additional 3 patients. P. knowlesi parasitemia at hospital admission was an independent determinant of respiratory distress, as were serum creatinine level, serum bilirubin, and platelet count at admission (P < .002 for each). Two patients with knowlesi malaria died, representing a case fatality rate of 1.8% (95% confidence interval, 0.2%–6.6%). Conclusions Knowlesi malaria causes a wide spectrum of disease. Most cases are uncomplicated and respond promptly to treatment, but approximately 1 in 10 patients develop potentially fatal complications. PMID:19635025

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

    PubMed Central

    Ahn, Seong Joon; Ryoo, Na-Kyung

    2014-01-01

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

  20. Desmoid Tumors: Clinical Features and Treatment Options for Advanced Disease

    PubMed Central

    Ströbel, Philipp; Hohenberger, Peter

    2011-01-01

    Desmoid tumors describe a rare monoclonal, fibroblastic proliferation characterized by a variable and often unpredictable clinical course. Although histologically benign, desmoids are locally invasive and associated with a high local recurrence rate, but lack metastatic potential. On the molecular level, desmoids are characterized by mutations in the ?-catenin gene, CTNNB1, or the adenomatous polyposis coli gene, APC. Proof of a CTNNB1 mutation may be useful when the pathological differential diagnosis is difficult and location might be predictive for disease recurrence. Many issues regarding the optimal treatment of patients with desmoids remain controversial; however, surgery is the therapeutic mainstay, except if mutilating and associated with considerable function loss. Postoperative radiotherapy reduces the local recurrence rate, in cases of involved surgical margins. Because of the heterogeneity of the biological behavior of desmoids, including long periods of stable disease or even spontaneous regression, treatment needs to be individualized to optimize local tumor control and preserve patients' quality of life. Therefore, the application of a multidisciplinary assessment with multimodality treatment forms the basis of care for these patients. Watchful waiting may be the most appropriate management in selected asymptomatic patients. Patients with desmoids located at the mesentery or in the head and neck region could present with life-threatening complications and often need more aggressive treatment. This review describes treatment options and management strategies for patients with desmoid tumors with a focus on advanced disease. PMID:21478276

  1. Rasmussen’s encephalitis: clinical features, pathobiology, and treatment advances

    PubMed Central

    Varadkar, Sophia; Bien, Christian G; Kruse, Carol A; Jensen, Frances E; Bauer, Jan; Pardo, Carlos A; Vincent, Angela; Mathern, Gary W; Cross, J Helen

    2014-01-01

    Rasmussen’s encephalitis is a rare chronic neurological disorder, characterised by unilateral inflammation of the cerebral cortex, drug-resistant epilepsy, and progressive neurological and cognitive deterioration. Neuropathological and immunological studies support the notion that Rasmussen’s encephalitis is probably driven by a T-cell response to one or more antigenic epitopes, with potential additional contribution by autoantibodies. Careful analysis of the association between histopathology and clinical presentation suggests that initial damage to the brain is mediated by T cells and microglia, suggesting a window for treatment if Rasmussen’s encephalitis can be diagnosed early. Advances in neuroimaging suggest that progression of the inflammatory process seen with MRI might be a good biomarker in Rasmussen’s encephalitis. For many patients, families, and doctors, choosing the right time to move from medical management to surgery is a real therapeutic dilemma. Cerebral hemispherectomy remains the only cure for seizures, but there are inevitable functional compromises. Decisions of whether or when surgery should be undertaken are challenging in the absence of a dense neurological deficit, and vary by institutional experience. Further, the optimum time for surgery, to give the best language and cognitive outcome, is not yet well understood. Immunomodulatory treatments seem to slow rather than halt disease progression in Rasmussen’s encephalitis, without changing the eventual outcome. PMID:24457189

  2. 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

  3. Speech-Language and swallowing manifestations and rehabilitation in an 11-year-old girl with MELAS syndrome

    PubMed Central

    Vandana, V. P.; Bindu, Parayil Sankaran; Sonam, Kothari; Taly, Arun B.; Gayathri, N.; Madhu, N.; Sinha, S.

    2015-01-01

    Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) syndrome is a rare mitochondrial disease. The available studies on MELAS syndrome are limited to evaluation of radiological, audiological, genetic, and neurological findings. Among the various neurological manifestations, speech-language and swallowing manifestations are less discussed in the literature. This report describes the speech-language and swallowing function in an 11-year-old girl with MELAS syndrome. The intervention over a period of 6 months is discussed.

  4. Clinical Significance of Nonpalpable Prostate Cancer with Favorable Biopsy Features in Japanese Men

    Microsoft Academic Search

    Yoshiyuki Kakehi; Toshiyuki Kamoto; Osamu Ogawa; Tetsuro Kato; Koichiro Akakura; Shin Egawa; Michiyuki Usami; Osamu Maeda; Yoichi Arai; Yoshiteru Sumiyoshi; Yoriaki Kamiryo; Osamu Yoshida

    2000-01-01

    Objective: To assess the clinical significance of nonpalpable localized prostate cancers with relatively favorable six sextant biopsy features in Japanese men.Patients and Methods: 136 nonpalpable prostate cancers of which biopsy features confined to (1) a Gleason score of 6 or less, (2) one or two positive cores per six sextant cores, and (3) 50% or less involvement of any positive

  5. Binge eating disorder: prevalence and psychopathological features in a clinical sample of obese people in Italy

    Microsoft Academic Search

    Carla E. Ramacciotti; Elisabetta Coli; Carlo Passaglia; Maria Lacorte; Enrica Pea; Liliana Dell’Osso

    2000-01-01

    Binge eating disorder (BED) is a recently conceptualized eating disturbance, and its clinical features and prevalence are still a matter of debate. This study uses interview methodology to estimate the prevalence of BED in Italy in a sample of 66 obese people presenting for treatment, and examines potential related features typical of patients with anorexia and bulimia nervosa. The lifetime

  6. Infantile hepatic hemangiomas. Clinical features, radiologic investigations, and treatment of 20 patients

    Microsoft Academic Search

    Philip Stanley; Geoffrey D. Geer; John H. Miller; Vicente Gilsanz; Benjamin H. Landing; Ines M. Boechat

    1989-01-01

    The clinical features, radiologic investigation, and treatment of 20 infants with hepatic hemangiomas are presented. Palpable abdominal mass (n = 18) and cardiac failure (n = 11) were the common presenting features. Nine patients had hyperconsumptive coagulopathy. Seven patients had other hemangiomas. Ultrasound (n = 15) showed the number and distribution of the hemangiomas within the liver. Hypoechoic and hyperechoic

  7. Towards Dynamic and Interactive Retrieval of Clinical Trials Using Common Eligibility Features

    E-print Network

    Miotto, Riccardo

    Abstract Information overload is a barrier for patients identifying relevant clinical trials online. We relevant medical evidence for effective disease treatments. Nevertheless, most clinical trial search search. Feature extraction automatically mines a set of multi-word meaningful patterns (e.g., "breast

  8. Age of onset influences clinical features of chronic inflammatory demyelinating polyneuropathy

    Microsoft Academic Search

    Naoki Hattori; Kenichiro Misu; Haruki Koike; Miyuki Ichimura; Masaaki Nagamatsu; Masaaki Hirayama; Gen Sobue

    2001-01-01

    Chronic inflammatory demyelinating polyneuropathy (CIDP), which can occur through life from childhood to old age, presents a wide variety of clinical phenotypes. We investigated the relationship between age of onset and phenotype in 124 CIDP patients. Clinical symptoms, pathologic findings and electrophysiologic features were assessed according to age at onset: juvenile, younger than 20-years-old; adult, 20 to 64; and elderly,

  9. Psychogenic facial movement disorders: clinical features and associated conditions.

    PubMed

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

    2012-10-01

    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. PMID:23033125

  10. 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

  11. Otomycosis; clinical features, predisposing factors and treatment implications

    PubMed Central

    Anwar, Khurshid; Gohar, Muhammad Shahid

    2014-01-01

    Objectives : The aim of this study was to determine the frequency of otomycosis, the clinical presentation, predisposing factors and treatment outcomes. Methods: This observational study was conducted at ENT department of Combined Military Hospital Attock, from October, 2010 to September, 2012. Convenient sample comprising 180 patients of both sexes and all age groups were selected from ENT OPD. The frequency, predisposing factors and most common symptoms of otomycosis were recorded. The response to different antifungal agents was also observed. Results were recorded in percentages. Results: There were 180 patients with documented diagnosis of otomycosis. There were 107 (59%) males and 73 (41%) females. The age of patients ranged from 1½ years to 75 years with a mean age of 38.5 years. Mean follow up time was 2 years. Most common presenting symptom was hearing loss (77.7%) followed by pruritis (68.8%) and otalgia (40%). We prescribed 1% clotrimazole drops or lotion in 58% patients and 2% salicylic acid in 31% cases. Both of these agents are effective. Topical 1% clotrimazole drops yielded highest resolution rate with lowest recurrent rate. Overall 149 (83%) patients were improved with initial treatment and 31 (17%) did not respond to initial treatment. Eight (4.4%) patients had a history of otological procedures. Four (2.2%) patients had canal wall down procedures that resulted in mastoid cavity. To analyse the efficacy of 1% clotrimazole and 2% salicylic acid we applied Z-Test to calculate the difference between 2 proportions of patients before treatment with those patients who remained uncured after treatment. Conclusion: Otomycosisis commonly presented with decreased hearing, pruritis, otalgia & otorrhoea. It usually resolves with local toilet of ear and instillation of antifungal agents. Eradication of disease is difficult in presence of a mastoid cavity and metabolic diseases like diabetes mellitus. PMID:24948980

  12. Patient safety features of clinical computer systems: questionnaire survey of GP views

    Microsoft Academic Search

    C J Morris; B S P Savelyich; A J Avery; J A Cantrill; A Sheikh

    2005-01-01

    Aim: To investigate general practitioners’ (GPs’) stated knowledge, use and training needs related to the patient safety features of computerised clinical systems in England.Design: Questionnaire survey.Subjects and setting: GPs from six English primary care trusts.Outcome measures: GPs’ views on the importance of specified patient safety features on their computer system; their knowledge of the presence of specified safety features; previous

  13. 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

  14. Antioxidant responses and bioaccumulation in Ictalurus melas under mercury exposure.

    PubMed

    Elia, Antonia Concetta; Galarini, Roberta; Taticchi, Maria Illuminata; Dörr, Ambrosius Josef Martin; Mantilacci, Luciana

    2003-06-01

    Laboratory experiment was carried out to determine mercury accumulation in tissues (gills, kidneys, liver, and muscle) and biochemical responses in the liver of freshwater teleost Ictalurus melas. Catfish were subjected to different concentrations of Hg(2+) (35, 70, and 140 microg/L) for 10 days. The chemical analyses showed higher mercury concentrations for all treatments in gills and kidneys followed by liver and muscle. At the lowest mercury concentration a decrease in glutathione (GSH) content and an increase of GSH peroxidase Se-dependent and glyoxalase II enzymes were observed. An increasing trend was observed also for GSH-S-transferase and glyoxalase I, while GSH peroxidase Se-independent enzyme and GSH reductase showed no significant variation in activities. The increase in the enzymes activities of catfish, involved in the inactivation of reactive molecules formed during oxidative stress, could provide an additional protection against the oxidative damage induced by mercury. PMID:12742363

  15. Olfactory discrimination of complex mixtures of amino acids by the black bullhead Ameiurus melas.

    PubMed

    Valentincic, T; Miklavc, P; Kralj, S; Zgonik, V

    2011-07-01

    On the basis of previous findings of behavioural discrimination of amino acids and on the knowledge of electrophysiology of the catfish (genera Ictalurus and Ameiurus) olfactory organs, behavioural experiments that investigated olfactory discrimination of amino acid mixtures were carried out on the black bullhead Ameiurus melas. Repeated presentations of food-rewarded mixtures released increased swimming activity measured by counting the number of turns >90° within 90 s of stimulus addition. Non-rewarded amino acids and their mixtures released little swimming activity, indicating that A. melas discriminated between the conditioned and the non-conditioned stimuli. Two questions of mixture discrimination were addressed: (1) Are A. melas able to detect components within simple and complex amino acid mixtures? (2) What are the smallest differences between two complex mixtures that A. melas can detect? Three and 13 component mixtures tested were composed primarily of equipotent amino acids [determined by equal electroolfactogram (EOG) amplitude] that contained L-Cys at ×100 the equipotent concentration. Ameiurus melas initially perceived the ternary amino acid mixture as its more stimulatory component alone [i.e. cysteine (Cys)], whereas the conditioned 13 component mixture containing the more stimulatory L-Cys was perceived immediately as different from L-Cys alone. The results indicate that components of ternary mixtures are detectable by A. melas but not those of more complex mixtures. To test for the smallest detectable differences in composition between similar multimixtures, all mixture components were equipotent. Initially, A. melas were unable to discriminate the mixtures of six amino acids from the conditioned mixtures of seven amino acids, whereas they discriminated immediately the mixtures of four and five amino acids from the conditioned mixture. Experience with dissimilar mixtures enabled the A. melas to start discriminating the seven-component conditioned mixture from its six-component counterparts. After fewer than five training trials, A. melas discriminated the mixtures of nine and 10 amino acids from a conditioned mixture of 12 equipotent amino acids; however, irrespective of the number of training trials, A. melas were unable to discriminate the 12 component mixture from its 11 component counterparts. PMID:21722109

  16. Concurrent west nile virus infection in pneumococcal meningitis: clinical and MRI features.

    PubMed

    Szatmary, Gabriella; Leis, A Arturo

    2015-03-01

    We report the clinical and neuroimaging findings of an immunocompetent patient with concurrent pneumococcal and West Nile virus meningoencephalitis with relapsing clinical course despite a full course of antibiotic treatment. The patient developed acute oculomotor nerve palsy with pupillary involvement and bilateral hearing loss, and delayed right leg monoparesis. We speculate that coexisting bacterial and viral neuroinvasive infections contributed to the unusual clinical and imaging manifestations, and that overwhelming laboratory and clinical features of bacterial meningitis masked the typical features of CNS viral infection. Therefore, atypical presentations of bacterial meningitis should raise a high index of suspicion for coexisting infections, even in immunocompetent patients, and evolving neuroimaging findings may be helpful in substantiating clinical suspicion and guiding further management. PMID:24837618

  17. 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.

  18. Canavan disease - unusual imaging features in a child with mild clinical presentation.

    PubMed

    Nguyen, Ho V; Ishak, Gisele E

    2015-03-01

    Canavan disease is a rare hereditary leukodystrophy that manifests in early childhood. Associated with rapidly progressive clinical deterioration, it usually results in death by the third year of life. The predominant MRI appearance is diffuse and symmetrical white matter disease. We discuss an atypical, late presentation of Canavan disease with a benign clinical course and uncharacteristic imaging features. This case introduces a previously unreported pattern of diffuse cortical abnormality without significant white matter involvement. PMID:25107638

  19. Late onset lupus nephritis: analysis of clinical manifestations and renal pathological features in Chinese patients

    Microsoft Academic Search

    Zheng Tang; Dongmei Chen; Shengmei Yang; Haitao Zhang; Weixin Hu; Zhihong Liu; Leishi Li

    The objectives of the study are to analyze the clinical and pathological features of 35 Chinese patients with late onset lupus\\u000a nephritis (LN) in a single center. All the LN patients followed-up in our lupus clinic center from 1986 to 2008 were enrolled\\u000a in this retrospective study. Thirty-five patients with a disease onset beyond the age of 50 years were identified.

  20. The effect of high temperature on blood glucose level in two teleost fish ( Ictalurus melas and Ictalurus punctatus)

    Microsoft Academic Search

    C. Ottolenghi; A. C. Puviani; D. Ricci; L. Brighenti; E. Morsiani

    1995-01-01

    Black and channel catfish (Ictalurus melas and Ictalurus punctatus) were gradually acclimated to 36°C. Ictalurus punctatus tolerated the higher temperature better than Ictalurus melas. An intravenous glucose tolerance test was performed on Ictalurus punctatus by intravenously injecting 25 mg\\/100 g body weight of d-glucose. Both in the control and in acclimated fish, the blood glucose peak was reached after 1

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

    PubMed Central

    Ji, Zhiwei; Wang, Bing

    2014-01-01

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

  2. Morphological variability of black bullhead Ameiurus melas in four non-native European populations.

    PubMed

    Novomeská, A; Katina, S; Copp, G H; Pedicillo, G; Lorenzoni, M; Pompei, L; Cucherousset, J; Ková?, V

    2013-04-01

    External morphology in black bullhead Ameiurus melas, a fish species considered to have high invasive potential, was studied in its four non-native European populations (British, French, Italian and Slovak). The aim of this study was to examine this species' variability in external morphology, including ontogenetic context, and to evaluate its invasive potential. Specimens from all non-native populations reached smaller body size compared to individuals from native populations. Juvenile A. melas were found to have a relatively uniform body shape regardless of the population's origin, whereas adults developed different phenotypes depending upon location. Specimens from the U.K., Slovak and French populations appeared to be rather similar to each other, whereas the Italian population showed the most distant phenotype. This probably results from the different thermal regime in the Italian habitat. Ameiurus melas from non-native European populations examined in this study showed some potential to alter the body shape both within and between populations. The phenotypic plasticity of A. melas, however, was not found to be as significant as in other invasive fish species. The results suggest that morphological variability itself is not necessarily essential for invasive success. The invasiveness of A. melas is therefore probably favoured by variations in its life-history traits and reproduction variables, together with some behavioural traits (e.g. voracious feeding and parental care) rather than by phenotypic plasticity expressed in external morphology. PMID:23557294

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

    SciTech Connect

    Mullan, M.; Bennett, C.; Figueredo, C.; Crawford, F. [Univ. of South Florida, Tampa, FL (United States)] [and others

    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.

  4. [Clinical and psycosocial features of heart failure patients admitted for clinical decompensation].

    PubMed

    Margoto, Gláucia; Colombo, Roberta Cunha Rodrigues; Gallani, Maria Cecília Bueno Jayme

    2009-03-01

    This study had the purpose to identify the sociodemographic and clinical profiles, history of hospitalizations due to Heart Failure (HF) and follow-ups (regular appointments, drug treatment, facilities and difficulties for follow-up) of patients admitted for clinical decompensation. Interviews were held with 61 patients, with average age of 58.1 (+/- 15.9) years, 3.5 (+/- 4.4) years of education and individual income of 1.3 (+/- 2.4) times the minimum wage. Most subjects were in functional classes III or IV of the New York Heart Association, having signs and symptoms of the congestive form of HF as the most frequent cause of hospitalization. Of all subjects, 75.4% reported clinical follow-ups, although they tended to be irregular. The use of drug therapy occurred in lower ratios than that recommended in the literature. The findings must help to identify patients with higher risk of HC decompensation, and, as such, design and implement specific interventions aiming at reducing re-admittances due to HF. PMID:19437853

  5. Tuberculosis caused by RDRio Mycobacterium tuberculosis is not associated with differential clinical features

    PubMed Central

    Barbosa, C. de B.; Lazzarini, L. C. O.; Elias, A. R.; Leung, J. A. M.; Ribeiro, S. B.; da Silva, M. G.; Duarte, R. S.; Suffys, P.; Gomes, H. M.; Kritski, A. L.; Lapa e Silva, J. R.; Ho, J. L.; Boéchat, N.

    2013-01-01

    BACKGROUND We recently described the Mycobacterium tuberculosis RDRio genotype, a clonally derived sublineage within the Latin American–Mediterranean (LAM) family. Genetic diversity of M. tuberculosis likely affects the clinical aspects of tuberculosis (TB). Prospective studies that address this issue are scarce and remain controversial. OBJECTIVE To determine the association of differential clinical features of pulmonary TB with the RDRio M. tuberculosis etiology. METHODS Culture-proven pulmonary TB patients (n = 272) were clinically evaluated, including history, physical examination, chest X-ray and anti-human immunodeficiency virus serology. Isolates were classified as RDRio or non-RDRio M. tuberculosis by multiplex polymerase chain reaction and further spoligotyped. Clinical and M. tuberculosis genotype data were analyzed. RESULTS RDRio M. tuberculosis caused disease in 26.5% (72/270) of all TB cases. The LAM genotype, of which RDRio strains are members, was responsible for 46.0% of the TB cases. Demographic data, major signs and symptoms, radiographic presentation, microbiological features and clinical outcomes were not significantly different among patients with TB caused by RDRio and non-RDRio strains. CONCLUSIONS Disease caused by M. tuberculosis RDRio strains was not clinically distinctive or more severe than disease caused by non-RDRio strains in this series of TB patients. Larger prospective studies specifically designed to disclose differential clinical characteristics of TB caused by specific M. tuberculosis lineages are needed. PMID:22863208

  6. Clinical Features: Patients with Floating Harbor syndrome [OMIM #136140] typically have short stature, delayed osseous

    E-print Network

    Ober, Carole

    1/13 Clinical Features: Patients with Floating Harbor syndrome [OMIM #136140] typically have short anomalies, celiac disease, congenital heart defects, and a high- pitched or nasal voice [2]. Floating Harbor stature, a long nose with low hanging columella, and anomalous thumbs [1]. Inheritance: Floating Harbor

  7. Posttraumatic ulnar neuropathy versus non-traumatic cubital tunnel syndrome: Clinical features and response to surgery

    Microsoft Academic Search

    C. Barrios; C. Ganoza; J. de Pablos; J. Cafiadell

    1991-01-01

    Summary The outcome of 53 patients operated on either for posttraumatic ulnar neuropathy (PUN) or non-traumatic cubital tunnel syndrome (CTS) was reviewed after 3 years follow-up. Results were analyzed and compared considering the surgical technique used (neurolysis versus anterior transposition or combined) and a variety of clinical features that could influence outcome after nerve release. In the whole series, excellent

  8. Clinical and histological features of delta infection in chronic hepatitis B virus carriers

    Microsoft Academic Search

    A S Lok; I Lindsay; P J Scheuer; H C Thomas

    1985-01-01

    One hundred and six consecutive chronic hepatitis B virus (HBV) carriers were studied for the prevalence of delta markers in serum and tissue, and the clinical and histological features of those with and without delta infection were compared. Twenty (18.9%) patients were positive for anti-delta in serum or delta antigen in the liver or both. They presented at a younger

  9. Clinical features of a novel TIMP-3 mutation causing Sorsby's fundus dystrophy: implications for disease mechanism

    Microsoft Academic Search

    Michael Clarke; Keith W Mitchell; Judith Goodship; Sharon McDonnell; Michael D Barker; Ian D Griffiths; Norman McKie

    2001-01-01

    AIMSTo describe the phenotype in three family members affected by a novel mutation in the gene coding for the enzyme tissue inhibitor of metalloproteinase-3 (TIMP-3).METHODSThree members of the same family were seen with a history of nyctalopia and visual loss due to maculopathy. Clinical features were consistent with Sorsby's fundus dystrophy. Exon 5 of the gene coding for TIMP-3 was

  10. Clinical Features: Angelman and Rett syndrome are neurodevelopmental disorders with significant phenotypic overlap. Classic Rett

    E-print Network

    Stephens, Matthew

    -linked mental retardation (MRX) [4]. ARX encodes a transcription factor expressed primarily in fetal and adult spectrum of X-linked mental retardation syndromes [5]. Clinical features may include intellectual]. Archer et al (2006) identified CDKL5 mutations in 7/42 (17%) of females with severe mental retardation

  11. Obsessive–compulsive disorder and body dysmorphic disorder: a comparison of clinical features

    Microsoft Academic Search

    Franco Frare; Giulio Perugi; Giuseppe Ruffolo; Cristina Toni

    2004-01-01

    Body dysmorphic disorder (BDD) is currently classified as a somatoform disorder in DSM-IV, but has been long noted to have some important similarities with obsessive–compulsive disorder (OCD). In addition, BDD and OCD have been often reported to be comorbid with each other. In the present study, we compared demographic characteristics, clinical features and psychiatric comorbidity in patients with OCD, BDD

  12. Clinical Features and Risk of Recurrence among Patients with Vaginal Intraepithelial Neoplasia

    Microsoft Academic Search

    Jeffrey A. Dodge; Gamal H. Eltabbakh; Sharon L. Mount; R. Paige Walker; Ann Morgan

    2001-01-01

    Objective. The best treatment modality and factors affecting recurrence among women with vaginal intraepithelial neoplasia (VAIN) are yet to be determined. The aims of the current study were to describe the clinical features, results of treatment, and factors affecting recurrence among patients with VAIN.Methods. We conducted a retrospective review of 121 women with VAIN after confirming the histologic diagnosis. Patient

  13. Clinical Features: Lissencephaly and subcortical band heterotopia (SBH) are brain malformations caused by deficient neuronal

    E-print Network

    Gilad, Yoav

    6/11 Clinical Features: Lissencephaly and subcortical band heterotopia (SBH) are brain malformations caused by deficient neuronal migration. Lissencephaly--"smooth brain" with absent (agyria is available to review MRI scans and give recommendations regarding genetic testing. Please contact Dr. Dobyns

  14. Comparison of CT and MR Features with Clinical Outcome in Patients with Rocky Mountain Spotted Fever

    Microsoft Academic Search

    C. Bonawitz; M. Castillo; S. K. Mukherji

    PURPOSE: To compare neuroimaging findings and clinical features in patients with Rocky Moun- tain spotted fever and to determine the impact of imaging studies in the treatment of these patients. MATERIALS: We reviewed the brain CT scans (n 5 44), MR images (n 5 6), or both (n 5 4), and one MR spinal study in 34 patients with Rocky

  15. Clinical Features: Lissencephaly and subcortical band heterotopia (SBH) are brain malformations caused by deficient neuronal

    E-print Network

    Gilad, Yoav

    11/09 Clinical Features: Lissencephaly and subcortical band heterotopia (SBH) are brain malformations caused by deficient neuronal migration. · Lissencephaly--"smooth brain" with absent (agyria of Chicago is available to review MRI scans and give recommendations regarding genetic testing. Please

  16. Dominant and recessive polycystic kidney disease in children: evaluation of clinical features and laboratory data

    Microsoft Academic Search

    H. Kääriäinen; O. Koskimies; R. Norio

    1988-01-01

    The clinical features and laboratory data of 93 children with polycystic kidney disease were analysed. Family studies showed that the disease was dominant (DPKD) in 17 and recessive (RPKD) in 32 of them. Of the remaining 44 sporadic patients, 1 was classified by histological and\\/or imaging findings as having DPKD, 41 as having RPKD and 2 could not be classified.

  17. Chronic Pain and Fatigue Syndromes: Overlapping Clinical and Neuroendocrine Features and Potential Pathogenic Mechanisms

    Microsoft Academic Search

    Daniel J. Clauw; George P. Chrousos

    1997-01-01

    Patients with unexplained chronic pain and\\/or fatigue have been described for centuries in the medical literature, although the terms used to describe these symptom complexes have changed frequently. The currently preferred terms for these syndromes are fibromyalgia and chronic fatigue syndrome, names which describe the prominent clinical features of the illness without any attempt to identify the cause. This review

  18. Clinical Features of Elderly Patients Submitted to Coronary Artery Bypass Graft

    Microsoft Academic Search

    Franklin Santana Santos; Irineu Tadeu Velasco

    2005-01-01

    Objective: To describe the clinical features as well as morbidity and mortality of elderly patients submitted to coronary artery bypass graft (CABG). Design: Randomized, single-center, observational study. Methods: A prospective study was carried out in a tertiary referral teaching hospital (Heart Institute-Brazil). A total of 220 inpatients submitted to elective CABG were evaluated and data collected from the pre-, intra-

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

    PubMed Central

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

    2013-01-01

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

  20. Clinical and ultrasonographic features of abdominal tuberculosis in HIV positive adults in Zambia

    PubMed Central

    2009-01-01

    Background The diagnosis of abdominal tuberculosis (TB) is difficult, especially so in health care facilities in developing countries where laparoscopy and colonoscopy are rarely available. There is little information on abdominal TB in HIV infection. We estimated the prevalence and clinical features of abdominal (excluding genitourinary) TB in HIV infected adults attending the University Teaching Hospital, Zambia. Methods We screened 5,609 medical inpatients, and those with fever, weight loss, and clinical features suggestive of abdominal pathology were evaluated further. A clinical algorithm was used to specify definitive investigations including laparoscopy or colonoscopy, with culture of biopsies and other samples. Results Of 140 HIV seropositive patients with these features, 31 patients underwent full evaluation and 22 (71%) had definite or probable abdominal TB. The commonest presenting abdominal features were ascites and persistent tenderness. The commonest ultrasound findings were ascites, para-aortic lymphadenopathy (over 1 cm in size), and hepatomegaly. Abdominal TB was associated with CD4 cell counts over a wide range though 76% had CD4 counts <100 cells/?L. Conclusion The clinical manifestations of abdominal TB in our HIV-infected patients resembled the well-established pattern in HIV-uninfected adults. Patients with fever, weight loss, abdominal tenderness, abdominal lymphadenopathy, ascites and/or hepatomegaly in Zambia have a high probability of abdominal TB, irrespective of CD4 cell count. PMID:19374757

  1. Arthrogryposis¿renal dysfunction¿cholestasis (ARC) syndrome: from molecular genetics to clinical features.

    PubMed

    Zhou, Yaoyao; Zhang, Junfeng

    2014-09-20

    Arthrogryposis-renal dysfunction-cholestasis (ARC) syndrome is a rare but fatal autosomal recessive multisystem disorder caused by mutations in the VPS33B or VIPAR gene. The classical presentation of ARC includes congenital joint contractures, renal tubular dysfunction, and cholestasis. Additional features include ichthyosis, central nervous system malformation, platelet anomalies, and severe failure to thrive. Diagnosis of ARC syndrome relies on clinical features, organ biopsy, and mutational analysis. However, no specific treatment currently exists for this syndrome.ConclusionThis is an overview of the latest knowledge regarding the genetic features and clinical manifestations of ARC syndrome. Greater awareness and understanding of this syndrome should allow more timely intervention with potential for improving long-term outcome. PMID:25239142

  2. Noncompaction cardiomyopathy: A new mechanism for mitral regurgitation with distinct clinical, echocardiographic features and pathological correlations

    PubMed Central

    Ali, Sulafa K.M.; Abu-Sulaiman, Riyadh; Agouba, Rihab Beshir

    2014-01-01

    Noncompaction cardiomyopathy (NCCM) is a primary, genetic cardiomyopathy with variable clinical manifestations that include mitral regurgitation (MR). Methods This study comprised patients diagnosed with NCCM and MR in two cardiac centers (King Abdul-Aziz Cardiac Center, Riyadh, Kingdom of Saudi Arabia and Sudan Heart Institute, Khartoum, Sudan), and seen in the period between 2002 and 2013. The study describes follow up, clinical, echocardiographic, and histopathological findings. Results Nineteen cases (85% females) were identified. Ten percent of the cases had relapses and remissions of heart failure. Echocardiographic features included leaflet retraction in all patients, characteristic malcoaptation, and a zigzag deformity of anterior leaflet in 57% of patients. Ruptured chordae were found in 15% of the patients. One patient had pathological examination of the mitral valve which showed myxomatous degeneration, and sclerotic and calcific changes. Conclusion We describe and discuss a new mechanism for MR caused by NCCM with identifiable clinical and echocardiographic features, and pathological correlations.

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

    PubMed Central

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

    2013-01-01

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

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

    PubMed Central

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

    2013-01-01

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

  5. Clinical Features: Warburg Micro syndrome [OMIM #600118] is a rare autosomal recessive condition characterized by ocular and

    E-print Network

    Gilad, Yoav

    ,2]. Key clinical features include microphthalmia, microcornia, congenital cataracts, optic atrophy, microcephaly, cortical dysplasia and atrophy, congenital hypotonia, severe intellectual disability, and spastic

  6. 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

  7. 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

  8. Historical and clinical features of 200 cases of equine sinus disease.

    PubMed

    Dixon, P M; Parkin, T D; Collins, N; Hawkes, C; Townsend, N B; Fisher, G; Ealey, R; Barakzai, S Z

    2011-10-22

    The historical and clinical findings in 200 referred cases of equine sinus disease were reviewed retrospectively. Univariable and multivariable analyses were performed to detect significant differences in historical or clinical features between various categories of sinus disease. The causes of sinus disease were classified as subacute primary (less than two months duration) (n=52), chronic primary (more than two months duration) (n=37), dental (n=40), sinus cyst (n=26), traumatic (n=13) or mycotic sinusitis (n=7), sinus neoplasia (n=10), dental-related oromaxillary fistula (n=8) and intrasinus progressive ethmoid haematoma (n=7). The majority of sinus disorders were of chronic duration at the time of referral and most (including 97 per cent of chronic primary sinusitis cases) had not responded to previous antibiotic therapy and/or sinus lavage in some cases. Clinical signs included unilateral nasal discharge in most cases, including purulent or mucopurulent discharge in all horses with primary, dental and mycotic sinusitis. Haemorrhagic nasal discharge was a feature of traumatic sinusitis and intrasinus progressive ethmoid haematomas. Firm facial swellings and nasal airflow obstruction were features of sinus cysts and neoplasms. Ipsilateral lymphadenitis was a more prominent feature of sinus disease with active infections such as primary, dental or mycotic sinusitis. PMID:21868434

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

    PubMed Central

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

    2013-01-01

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

  10. Clinical and imaging features in different inner border-zone infarct patterns.

    PubMed

    Wang, Yujie; Wang, Jian

    2014-06-01

    Background and purpose: The clinical and imaging features of different inner border-zone infarct patterns, corona radiata (CR) and centrum semiovale (CSO), is not quiet clear. Both are mostly reported together in previous studies. We intended to observe their clinical and imaging features. Method: We observed 83 patients-47 cases with CR infarct lesion pattern and 36 cases with CSO. The lesion patterns were determined by diffusion-weighted imaging. Basic, clinical and radiologic features were compared between the patients with CR and CSO infarct lesion patterns. Results: There was no significant difference between CR and CSO infarct patterns in terms of risk factors. However, patients with CR infarct had a higher initial National Institutes of Health Stroke Scale (NIHSS) score at admission (5.2 ± 2.3) than with CSO (3.9 ± 2.0, p = 0.009). Early clinical deterioration (OR, 2.42; 95% CI, 1.12-5.21; p = 0.024) and middle cerebral artery (MCA) stenosis (OR, 10.31; 95% CI, 3.30-32.19; p < 0.0001) were independently associated with the CR infarct lesion pattern. Partial infarct lesion shape (OR, 5.95; 95% CI, 1.40-25.33; p = 0.016) and internal carotid artery (ICA) stenosis (OR, 5.28; 95% CI, 1.92-14.51; p = 0.001) were independently correlated with the CSO infarct lesion pattern. Conclusions: Although CR and CSO infarct patterns might share common etiology and mechanisms, their clinical and imaging features are different. PMID:24802279

  11. 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

  12. Correlation of clinical and molecular features in spinal bulbar muscular atrophy

    PubMed Central

    Nirmalananthan, Niranjanan; Masset, Luc; Skorupinska, Iwona; Collins, Toby; Cortese, Andrea; Pemble, Sally; Malaspina, Andrea; Fisher, Elizabeth M.C.; Greensmith, Linda; Hanna, Michael G.

    2014-01-01

    Objectives: To characterize the clinical and genetic features of spinal bulbar muscular atrophy (SBMA), a rare neurodegenerative disorder caused by the expansion of a CAG repeat in the first exon of the androgen receptor gene, in the United Kingdom. Methods: We created a national register for SBMA in the United Kingdom and recruited 61 patients between 2005 and 2013. In our cross-sectional study, we assessed, by direct questioning, impairment of activities of daily living (ADL) milestones, functional rating, and subjective disease impact, and performed correlations with both CAG repeat size and degree of somatic mosaicism. Ten patients were deceased, 46 patients participated in the study, and 5 declined. Results: Subjects had an average age at onset of 43.4 years, and weakness onset most frequently occurred in the lower limbs (87%). Impaired mobility was the most frequently reported problem by patients, followed by bulbar dysfunction. Age distribution of the impairment of ADL milestones showed remarkable overlap with a Japanese study. We have identified a significant correlation between the number of CAG repeats and both age at onset and ADL milestones. Somatic mosaicism also showed a correlation with CAG expansion size and age at onset. Conclusions: Clinical features in SBMA show a substantial overlap when comparing populations with different genetic backgrounds. This finding has major implications, because multicenter trials will be necessary to obtain sufficient power in future clinical trials. Clinical-genetic correlations are strong in SBMA and should inform any clinical research strategy in this condition. PMID:24814851

  13. [Chlamydial infection of the central nervous system. Laboratory diagnosis and clinic and morphological features].

    PubMed

    Va?nshenker, Iu I; Nuralova, I V; Onishenko, L S

    2014-01-01

    The paper presents data on the diagnosis, clinical and pathomorphological changes in the central nervous system (CNS) in neurochlamydiasis according to clinical, autoptic, and experimental evidence. It discusses the possible implication of Ch. trachomatis, Ch. pneumoniae, and Ch. psittaci in the development and course of different diseases with CNS involvement: atherosclerosis, vasculitis, multiple sclerosis, Alzheimer's disease, schizophrenia, autism, vegetative state, sequels of perinatal lesions in childhood and adolescence, HIV infection, etc. Considerable attention is paid to the specific features of diagnosis of Chlamydia-induced CNS lesions. Purposeful pathomorphological investigations are shown to be needed. PMID:24745195

  14. Clinical, diagnostic and therapeutic features of keratocystic odontogenic tumors: a review.

    PubMed

    Jurisic, M; Andric, M; dos Santos, J N; Jurisic, V

    2012-01-01

    Keratocystic odontogenic tumors (KCOTs) are benign but locally aggressive lesions of the gnathic skeleton with high propensity to recur following surgical treatment. High proliferative activity of KCOTs epithelial cells is considered as one of the factors contributing to their aggressive clinical behavior. Aggressive growth within the jaws, tendency to invade surrounding anatomical structures and occasional malignant alteration are the features that distinguish KCOTs from other types of odontogenic tumors. Due to their unique clinical and biological features, KCOTs still present an important problem in oral and maxillofacial surgery. This is especially true when a choice of the most appropriate treatment modality should be made. Establishing balance between effective reduction of recurrence risk and selection of a less aggressive surgical procedure is an issue that should be carefully considered for each individual patient. PMID:22740199

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

    PubMed Central

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

    2011-01-01

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

  16. A comparison of clinical features among Japanese eating-disordered women with obsessive-compulsive disorder

    Microsoft Academic Search

    Hisato Matsunaga; Akira Miyata; Yoko Iwasaki; Tokuzo Matsui; Kayo Fujimoto; Nobuo Kiriike

    1999-01-01

    Clinical features, such as obsessive-compulsive disorder (OCD) symptoms, were investigated in Japanese women with DSM-III-R eating disorders (EDs) and concurrent OCD in comparison to age-matched women with OCD. Sixteen women with restricting anorexia nervosa (AN), 16 with bulimia nervosa (BN), and 16 with both AN and BN (BAN) showed commonality in a more elevated prevalence of OCD symptoms of symmetry

  17. Anaphylaxis in referred pediatric patients: demographic and clinical features, triggers, and therapeutic approach

    Microsoft Academic Search

    Liliane F. A. De Swert; Dominique Bullens; Marc Raes; Anna-Maria Dermaux

    2008-01-01

    Anaphylaxis remains under-diagnosed and under-treated. A better knowledge of patterns and triggers of anaphylaxis might contribute\\u000a to a better management. In this study we evaluated the demographic and clinical features of anaphylaxis in pediatric patients,\\u000a as well as its triggers and therapeutic approach. From May 1st 2004 until April 30th 2006 we prospectively collected data\\u000a on all patients referred for

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

    Microsoft Academic Search

    Michael Mullan; Craig Bennett; Cecilia Figueredo; F. Crawford; Rebecca Mant; Michael Owen; Andrew Warren; Melvin McInnis; Anne Marshall; Peter Lantos; John Collinge; Alison Goate; Henry Houlden

    1995-01-01

    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 β-amyloid precursor protein (βAPP) 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 βAPP

  19. The Clinical and Adaptive Features of Young Offenders with Histories of Child-Parent Violence

    Microsoft Academic Search

    Tom D. Kennedy; William A. Edmonds; Karen T. J. Dann; Kent F. Burnett

    2010-01-01

    This study compared the clinical and adaptive features of juvenile offenders (N?=?223) who were violent towards their parents (CPV) with those who had no history of violence against their parents (NCPV).\\u000a These two groups were also examined on demographic data, arrest findings, mental health issues, relationship findings, intellectual\\u000a abilities, and school performance. Youths in the CPV group were more likely

  20. Gastric Polyps: A Review of Clinical, Endoscopic, and Histopathologic Features and Management Decisions

    PubMed Central

    Islam, Rafiul Sameer; Patel, Neal C.; Lam-Himlin, Dora

    2013-01-01

    The increasing use of endoscopy has led to more discernable abnormalities in the stomach, including polyps. Gastric polyps encompass a spectrum of pathologic conditions that can vary in histology, neoplastic potential, and management. Despite their high prevalence, there is a paucity of literature to support management and treatment decisions for endoscopists. The goal of this review is to summarize clinical, endoscopic, and histopathologic features of various polyps, review syndromes associated with such polyps, and provide management recommendations. PMID:24764778

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

    PubMed Central

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

    2013-01-01

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

  2. 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.

  3. Impact of black bullhead ( Ameiurus melas ) on turbidity in a diked wetland

    Microsoft Academic Search

    Eugene C. Braig; David L. Johnson

    2003-01-01

    Benthivorous fish in shallow, aquatic systems have been correlated with increased turbidity and declines in macrophyte production and wildlife use. Bullheads have been credited with increasing turbidity, but this has been seldom tested and has not been studied in a diked marsh. To assess the relationships of black bullhead (Ameiurus melas) and turbidity, we assembled mesocosmsin the Show Pool Management

  4. Syncope, seizure-induced bradycardia and asystole: two cases and review of clinical and pathophysiological features.

    PubMed

    Duplyakov, Dmitry; Golovina, Galina; Lyukshina, Natalia; Surkova, Elena; Elger, Christian E; Surges, Rainer

    2014-08-01

    Episodes of transient loss of consciousness (TLOC) are commonly due to syncope or epileptic seizures. The distinction between both entities on clinical grounds and eyewitness accounts can be challenging and is often hampered by similar clinical features. We briefly summarize syncope-related symptoms and present the case of a female patient who suffered from TLOC episodes due to both reflex syncope and epileptic seizures. Seizure-induced syncope is a rare complication particularly of non-generalized temporal lobe seizures and may be suspected in people with epilepsy who report new semiological features with sudden onset of atonia, TLOC and seizure-related falls. We review epidemiological, clinical and electroencephalographic aspects of seizure-related asystole and syncope and discuss their clinical relevance. The implantation of a cardiac pacemaker appears to efficiently prevent seizure-related falls and consecutive injuries and is an important treatment option if full seizure-control cannot be achieved in these patients. We describe a second case of a patient with refractory temporal lobe epilepsy and seizure-related syncope which ceased after the implantation of a cardiac pacemaker. PMID:24680552

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

    PubMed

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

    2014-12-01

    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, and 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

  6. Geomorphological characteristics of the interior layered deposits (ILDs) of Melas Chasma, central Valles Marineris, Mars

    NASA Astrophysics Data System (ADS)

    Harrison, Samantha; Quantin-Nataf, Cathy

    2013-04-01

    Stretching almost 600 km in width, Melas Chasma is located in the central part of the Valles Marineris (VM) and is one of the lowest lying of the chasmata. Spectral mapping of this chasma, particularly using MEX's OMEGA instrument, has revealed a strong presence of water-altered minerals (roughly a quarter of all such detected minerals to date in the VM; Chojnacki & Hynek, 2008), in the form of monohydrated and polyhydrated sulphates. Most of the sulphate-bearing rocks in Melas are found in association with thinly layered deposits, occurring in outcrops on the chasma floor. So-called interior layered deposits (ILDs) throughout the Valles Marineris have been the subject of considerable recent research, particularly for their association with these water-altered minerals. Better understanding of the origin and evolution of these ILDs may help to shed more light on the past climatic conditions on Mars and the potentially complicated history of liquid water on the planet. Relatively little geomorphological study of the ILDs of Melas Chasma has been conducted to date with regard to the differing characteristics of the different sulphate-bearing rocks. For instance, areas corresponding to polyhydrated sulphates in the Melas ILDs show considerable different surface textures to those corresponding to monohydrated sulphates. Interestingly, the latter show some surface textures comparable to the wind eroded, yardang bearing surfaces of the Medusae Fossae Formation, located roughly 4000 km to the west on the opposite side of the Tharsis volcanic province. This aim of this work, conducted as part of the European Research Council supported eMars project, is to compile a thorough geomorphological survey of the Melas Chasma ILDs and, through this, construct workable hypotheses regarding their origin and evolution and the context of their water-altered mineral content. Furthermore, to contrast and compare the ILDs of Melas with other large-scale deposits, such as the Medusae Fossae Formation and to collate evidence to support Melas Chasma's potential as a suitable landing site for any future martian rover/lander missions.

  7. Restoration of impaired nitric oxide production in MELAS syndrome with citrulline and arginine supplementation

    PubMed Central

    El-Hattab, Ayman W.; Hsu, Jean W.; Emrick, Lisa T.; Wong, Lee-Jun C.; Craigen, William J.; Jahoor, Farook; Scaglia, Fernando

    2014-01-01

    Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS) syndrome is one of the most common mitochondrial disorders. Although the pathogenesis of stroke-like episodes remains unclear, it has been suggested that mitochondrial proliferation may result in endothelial dysfunction and decreased nitric oxide (NO) availability leading to cerebral ischemic events. This study aimed to assess NO production in subjects with MELAS syndrome and the effect of the NO precursors arginine and citrulline. Using stable isotope infusion techniques, we assessed arginine, citrulline, and NO metabolism in control subjects and subjects with MELAS syndrome before and after arginine or citrulline supplementation. The results showed that subjects with MELAS had lower NO synthesis rate associated with reduced citrulline flux, de novo arginine synthesis rate, and plasma arginine and citrulline concentrations, and higher plasma asymmetric dimethylarginine (ADMA) concentration and arginine clearance. We conclude that the observed impaired NO production is due to multiple factors including elevated ADMA, higher arginine clearance, and, most importantly, decreased de novo arginine synthesis secondary to decreased citrulline availability. Arginine and, to a greater extent, citrulline supplementation increased the de novo arginine synthesis rate, the plasma concentrations and flux of arginine and citrulline, and NO production. De novo arginine synthesis increased markedly with citrulline supplementation, explaining the superior efficacy of citrulline in increasing NO production. The improvement in NO production with arginine or citrulline supplementation supports their use in MELAS and suggests that citrulline may have a better therapeutic effect than arginine. These findings can have a broader relevance for other disorders marked by perturbations in NO metabolism. PMID:22325939

  8. Clinical features of dementia with lewy bodies in 35 Chinese patients

    PubMed Central

    2014-01-01

    Objective To investigate the clinical features of dementia with Lewy bodies (DLB) in a Chinese population. Methods Computer-based online searches through China Biology Medicine disc and China National Knowledge Infrastructure were performed to collect case reports of DLB published between 1980 and 2012. Clinical characteristics were analyzed. Results A total of 18 studies comprising 35 patients (26 males and 9 females) were included. The mean age at onset was 67.2?±?9.8 years. Onset was characterized by memory impairment and accounted for 58.8% of all cases, followed by parkinsonism (11.8%), visual hallucinations (8.8%), and compulsive personality disorder (2.9%). The other patients (17.6%) presented two of the three core features of DLB at onset. With disease progression, parkinsonism was reported in 100% of cases, followed by visual hallucinations (97.1%), psychiatric symptoms (85.7%), severe neuroleptic sensitivity (81.8%), fluctuating cognition (68.6%), repeated falls (40.0%), sleep disorders (22.9%), and transient loss of consciousness (17.1%). 26 patients who were subjected to Mini-Mental State Examination scored ? 24. 10 patients presented relative preservation of hippocampus and medial temporal lobe structures on CT/MRI scan. Occipital hypometabolism occurred in 2 of 3 patients who underwent SPECT/PET perfusion scan. 12 patients showed an increasing of slow frequency activity on EEG, prominently in frontal and temporal lobes. Conclusions DLB often strikes elderly individuals. Its clinical core features are dementia, fluctuating cognition, recurrent visual hallucinations and spontaneous features of parkinsonism. Neuropsychological, neuroimaging and EEG examinations may improve the diagnostic accuracy and discriminate DLB from other dementias. PMID:24398160

  9. 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

  10. Acute myocardial infarction: Clinical features and outcomes in young adults in Singapore

    PubMed Central

    Wong, Chun Pong; Loh, Seet Yoong; Loh, Kwok Kong; Ong, Paul Jau Lueng; Foo, David; Ho, Hee Hwa

    2012-01-01

    AIM: To investigate the clinical features and in-hospital outcomes of young adults with acute myocardial infarction (AMI) in Singapore. METHODS: Between January 2005 to September 2010, 333 consecutive patients aged ? 45 years old were diagnosed to have AMI at our institution. As Singapore is a multi-ethnic society, we also analysed whether ethnic differences exist between the three dominant ethnic groups, Malay, Chinese and Indian with regards to the clinical features. Clinical data was collected retrospectively on demographic characteristics, presenting signs and symptoms, blood investigation, angiographic findings and in-hospital clinical outcomes. RESULTS: The mean age at presentation was 40.2 ± 4.0 years with male predominance (94%). The majority of patients were Chinese (51%) followed by Indians (31%) and Malays (18%). The most common risk factor was smoking (74%) followed by hypertension (28.5%) and hyperlipidemia (20.0%). 37% of patients were obese. The majority of patients had single vessel disease (46%) on coronary angiography. The mean total cholesterol, low-density lipoprotein and high-density lipoprotein levels were 5.6 ± 1.2 mmol/L, 3.8 ± 1.1 mmol/L and 0.93 ± 0.25 mmol/L respectively. The mean left ventricular function was 44% ± 10% with the incidence of heart failure 3% and cardiogenic shock 4.5%. Overall in-hospital mortality was low with 4 deaths (1.2%). For ethnic subgroup analysis, Indians have a 3-fold risk of developing premature AMI when compared to other ethnic groups. CONCLUSION: Young AMI patients in Singapore are characterized by male predominance, high incidence of smoking and obesity. Overall in-hospital clinical outcomes are favourable. Among the 3 ethnic groups, Indians have the highest risk of developing premature AMI. PMID:22761974

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

    PubMed Central

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

    2014-01-01

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

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

    SciTech Connect

    Lin, Charles, E-mail: Charles_Lin@health.qld.gov.au [Cancer Care Services, Royal Brisbane and Women's Hospital, Brisbane, Queensland (Australia); Tripcony, Lee; Keller, Jacqui [Cancer Care Services, Royal Brisbane and Women's Hospital, Brisbane, Queensland (Australia); Poulsen, Michael [Mater Hospital, Brisbane, Queensland (Australia); Martin, Jarad [St. Andrews Hospital, Toowoomba, Queensland (Australia); Jackson, James; Dickie, Graeme [Cancer Care Services, Royal Brisbane and Women's Hospital, Brisbane, Queensland (Australia)

    2012-01-01

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

  13. Bacterial brain abscess in patients with nasopharyngeal carcinoma following radiotherapy: microbiology, clinical features and therapeutic outcomes

    PubMed Central

    2012-01-01

    Background This study aimed to analyze the clinical features, causative pathogens, neuro-imaging findings, and therapeutic outcomes of bacterial brain abscess in patients with nasopharyngeal carcinoma (NPC) following radiotherapy. Methods NPC patients with bacterial brain abscess were evaluated. Their clinical data were collected over a 22-year period. For comparison, the clinical features, causative pathogens, neuro-imaging findings, and therapeutic outcomes between NPC and non-NPC patients were analyzed. Results NPC accounted for 5.7% (12/210) of the predisposing factors, with Viridans streptococci and Staphylococcus aureus as the two most common causative pathogens. Significant statistical analysis between the two groups (NPC and non-NPC patients) included chronic otitis media (COM) as the underlying disease, post-radiation necrosis by neuro-imaging, and the temporal lobe as the most common site of brain abscesses. The fatality rate in patients with and without NPC was 16.7% and 20.7%, respectively. Conclusions NPC patients with bacterial brain abscess frequently have COM as the underlying disease. Neuro-imaging often reveals both post-radiation necrosis and the temporal lobe as the most common site of brain abscesses, the diagnosis of which is not always a straightforward process. Radiation necrosis can mimic brain abscess on neuro-imaging and pose significant diagnostic challenges. Early diagnosis and treatment is essential for survival. PMID:22943134

  14. The natural history of the first clinically visible features of diabetic retinopathy.

    PubMed Central

    Feman, S S

    1994-01-01

    Microaneurysms are the first features of human diabetic retinopathy that can be detected with common clinical techniques. These are found, most often, in photographic field 2 (that is, an area occupying 30 degrees of the ocular fundus centered on the middle of the macula). After the first microaneurysms develop, there will be a tendency for more to appear; however, over time many of the original microaneurysms will become no longer visible with clinical techniques, while other, newer, microaneurysms mature. After the onset of microaneurysms, several years may pass before any other diabetic retinopathic lesions develop. Lesions other than microaneurysms were uncommon in this study; the following is a list in decreasing frequency: retinal hemorrhages, soft exudates, IRMA, hard exudates, and venous beading. During the 4 years of this study, there were no other diabetic retinopathic lesions detected. The duration of insulin-dependent diabetes mellitus was related to the rate of change in microaneurysm counts. The age and sex of patients did not affect this rate of change. The accuracy of metabolic control, as determined by glycosylated hemoglobin levels, may influence this rate of change; however, this was detected only at the extremes of measurement in this study. The equipment available to most ophthalmologists can detect the earliest clinical aspects of diabetic retinopathy. These features can be quantified in a reproducible manner with standardized photographic techniques to permit satisfactory data analysis. PMID:7886883

  15. Mitochondrial maculopathy: geographic atrophy of the macula in the MELAS associated A to G 3243 mitochondrial DNA point mutation

    Microsoft Academic Search

    Paul Latkany; Thomas A. Ciulla; Paul Cucchillo; Marc D. Malkoff

    1999-01-01

    PURPOSE: To report ocular findings in the mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS syndrome) in a family with the A to G 3243 mitochondrial (mt) DNA point mutation.METHODS: Case reports. Ocular findings are described from four family members with the MELAS associated A to G 3243 mt DNA point mutation.RESULTS: Findings included ophthalmoplegia, neurosensory deafness, reduction of photopic

  16. Dermoscopic features of clinically inflammatory dermatoses and their correlation with histopathologic reaction patterns.

    PubMed

    Goncharova, Yana; Attia, Enas A S; Souid, Khawla; Protzenko, Oleg; Koktishev, Igor

    2015-01-01

    Dermoscopy can be used in diagnosis of some chronic inflammatory dermatoses. In this study, the single most recent, fully developed lesion in 74 patients with clinically inflammatory dermatoses was examined dermoscopically and correlated histopathologically with psoriasiform, lichenoid, or spongiotic reaction patterns. Vascular component (morphology and arrangement) was the most prominent feature in the studied patterns mostly in the shape of dots (45 specimens, 60.8%), globules (30 specimens, 40.5%), and lines (45 specimens, 60.8%). Psoriasiform pattern showed vascular dots (20 specimens, 76.92%), and/or red globules (15 specimen, 57.69%), regularly distributed (17 specimens, 65.38%), on intense red background (15 specimens, 57.69%), and diffuse (13 specimens, 50%) white scales (18 specimen, 69.23%), with probability of these features together 100%. Lichenoid pattern showed red lines (23 cases, 65.71%), on dull or light red background (14 cases, 40% for each), with discolored areas (15 cases, 42.86%), brown reticular pigmentation (21 cases, 60%), and white scales (13 cases, 37.14%). Spongiotic pattern was characterized by follicular component and diffuse or peripheral scale distribution, with probability of both features together 100%. The main histopathologic features of inflammatory dermatoses, which influenced their dermoscopic patterns, are depth and size of vessels, presence and shape of epidermal hyperplasia, presence of spongiosis, and degree of dermal inflammation and oedema. These features influenced vascular morphology and distribution, corneal component, and background color. Among the studied reaction patterns, psoriasiform pattern showed the most consistent correlation with dermoscopic features. Dermoscopic picture of lichenoid reaction was the most contradictory. Spongiotic reaction showed absent specific vascular component. PMID:25297393

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

    PubMed

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

    2015-04-01

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

  18. 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

  19. An Overview of Rare and Unusual Clinical Features of Bietti's Crystalline Dystrophy.

    PubMed

    Osman Saatci, Ali; Can Doruk, Hasan

    2014-01-01

    Bietti's crystalline dystrophy (BCD) is a rare disease presenting with the appearance of intraretinal crystalline deposits and varying degrees of chorioretinal atrophy commencing at the posterior pole. Within time, intraretinal crystals gradually disappear and chorioretinal atrophy extends beyond the macula even resulting in complete chorioretinal atrophy. Concomitant corneal crystals can be noted in 1/2 - 1/3 of the patients, and the presence of corneal crystals is not a must for establishing the diagnosis. For the past decade, genetic evaluations and newer imaging modalities expand our knowledge about the disease. CYP4V2 gene is found to be the gene responsible for the disease process and new mutations are still being described. Modern imaging modalities, such as a spectral domain optical coherence tomography (SD-OCT) shed light on the anatomic features of the disease. By this, we reiterate the rare and unusual clinical features of BCD. PMID:25738160

  20. The hermansky-pudlak syndrome: clinical features and imperatives from an ophthalmic perspective.

    PubMed

    Schneier, Andrew J; Fulton, Anne B

    2013-01-01

    The Hermansky-Pudlak Syndrome (HPS) is a rare, autosomal recessive condition comprising nine genetically heterogeneous entities that feature oculocutaneous albinism (OCA) and bleeding tendency as their principal clinical manifestations. The pathogenesis of HPS involves disturbances in the biogenesis and trafficking of lysosome-related organelles. While the ophthalmologist is trained to address the ocular manifestations of OCA, it is critical for the provider to consider HPS when examining OCA patients as its systemic sequelae may be associated with morbidity and mortality. If there is suspicion of HPS in a patient with albinism, the ophthalmologist should enlist the aid of consultants to confirm the diagnosis and monitor for systemic features. As the nine HPS subtypes explored in this article vary widely in the character and severity of their associated systemic manifestations, some authors advocate determining the specific gene defect in each HPS patient in order to optimize care and provide anticipatory guidance. PMID:24138047

  1. Atypical Clinical and Diagnostic Features in Ménétrier's Disease in a Child

    PubMed Central

    Chung, Michael; Pittenger, Jaime; Flomenhoft, Deborah; Bennett, Jeffrey; Lee, Eun-Young; Shashidhar, Harohalli

    2011-01-01

    Ménétrier's disease is one of the rarest protein-losing gastropathies in childhood. It is characterized clinically by non-specific gastrointestinal symptoms and edema, biochemically by hypoalbuminemia, and pathologically by enlarged gastric folds. In adults, this disease can be devastating with significant morbidity and mortality. In childhood, it is a self-limiting, transient and benign illness. Its treatment is largely supportive with total parenteral nutrition (TPN) while oral intake is encouraged. Acute onset of vomiting in healthy school age children can be initially explained by acute viral gastroenteritis. However, persistent vomiting associated with hematemesis and severe abdominal pain should warrant further work-up. This case report illustrates a self-limiting and rare cause of protein-losing enteropathy called Ménétrier's disease that presented with several variant clinical features not typically described in association with this entity. PMID:22606420

  2. Atypical Clinical and Diagnostic Features in Ménétrier's Disease in a Child.

    PubMed

    Chung, Michael; Pittenger, Jaime; Flomenhoft, Deborah; Bennett, Jeffrey; Lee, Eun-Young; Shashidhar, Harohalli

    2011-01-01

    Ménétrier's disease is one of the rarest protein-losing gastropathies in childhood. It is characterized clinically by non-specific gastrointestinal symptoms and edema, biochemically by hypoalbuminemia, and pathologically by enlarged gastric folds. In adults, this disease can be devastating with significant morbidity and mortality. In childhood, it is a self-limiting, transient and benign illness. Its treatment is largely supportive with total parenteral nutrition (TPN) while oral intake is encouraged. Acute onset of vomiting in healthy school age children can be initially explained by acute viral gastroenteritis. However, persistent vomiting associated with hematemesis and severe abdominal pain should warrant further work-up. This case report illustrates a self-limiting and rare cause of protein-losing enteropathy called Ménétrier's disease that presented with several variant clinical features not typically described in association with this entity. PMID:22606420

  3. Unusual Clinical and Pathological Features in Pemphigus Vulgaris: A Potential Diagnostic Pitfall

    PubMed Central

    Caltabiano, Rosario; Magro, Gaetano; Puzzo, Lidia; Vasquez, Enrico; De Pasquale, Rocco

    2011-01-01

    We describe the case of a 67-year-old woman affected by pemphigus vulgaris with a dry whitish scaly lesion in the upper lip. Clinically, this lesion resembled an actinic keratosis. Although histological examination revealed a focal acantholysis, the finding of a moderate-to-severe dysplastic epithelium was consistent with the diagnosis of acantholytic actinic keratosis with moderate/severe dysplasia. Nevertheless, the complete resolution of the lip lesion after systemic therapy for pemphigus vulgaris led us to reconsider the possibility that we were dealing with a pemphigus vulgaris with unusual clinical and histological features. The previously reported cytological dysplasia was better regarded reactive rather than neoplastic, likely as the result to the inflammatory injury. PMID:21541236

  4. Unusual clinical and pathological features in pemphigus vulgaris: a potential diagnostic pitfall.

    PubMed

    Caltabiano, Rosario; Magro, Gaetano; Puzzo, Lidia; Vasquez, Enrico; De Pasquale, Rocco

    2011-01-01

    We describe the case of a 67-year-old woman affected by pemphigus vulgaris with a dry whitish scaly lesion in the upper lip. Clinically, this lesion resembled an actinic keratosis. Although histological examination revealed a focal acantholysis, the finding of a moderate-to-severe dysplastic epithelium was consistent with the diagnosis of acantholytic actinic keratosis with moderate/severe dysplasia. Nevertheless, the complete resolution of the lip lesion after systemic therapy for pemphigus vulgaris led us to reconsider the possibility that we were dealing with a pemphigus vulgaris with unusual clinical and histological features. The previously reported cytological dysplasia was better regarded reactive rather than neoplastic, likely as the result to the inflammatory injury. PMID:21541236

  5. Popliteal Cysts in Paediatric Patients: Clinical Characteristics and Imaging Features on Ultrasound and MRI

    PubMed Central

    Neubauer, Henning; Morbach, Henner; Schwarz, Tobias; Wirth, Clemens; Girschick, Hermann; Beer, Meinrad

    2011-01-01

    Popliteal cysts, or Baker cysts, are considered rare in children and may exhibit particular features, as compared with adults. We studied data from 80 paediatric patients with 55 Baker cysts, examined over a period of 7 years, and correlated clinical presentation with findings on ultrasonography and MRI. Prevalence of popliteal cysts was 57% in arthritic knees, 58% with hypermobility syndrome, and 28% without risk factors. Only one patient had a trauma history and showed an ipsilateral cyst. Mean cyst volume was 3.4?mL; cysts were larger in boys. Patients with arthritis had echogenic cysts in 53%. Cyst communication with the joint space was seen in 64% on ultrasonography and 86% on MRI. In conclusion, Baker cysts are a common finding in a clinically preselected paediatric population. Children with Baker cysts should be assessed for underlying arthritis and inherited joint hypermobility, while sporadic Baker cysts appear to be common, as well. PMID:22046524

  6. The Morel-Lavallée lesion: pathophysiology, clinical presentation, imaging features, and treatment options.

    PubMed

    Bonilla-Yoon, Iris; Masih, Sulabha; Patel, Dakshesh B; White, Eric A; Levine, Benjamin D; Chow, Kira; Gottsegen, Christopher J; Matcuk, George R

    2014-02-01

    Morel-Lavallée lesions are posttraumatic hemolymphatic collections related to shearing injury and disruption of interfascial planes between subcutaneous soft tissue and muscle. We review the pathophysiology of Morel-Lavallée lesions, clinical presentation, and potential sites of involvement. Magnetic resonance imaging (MRI) is the modality of choice for characterization. We present the MRI classification and highlight the key imaging features that distinguish the different types, focusing on the three most common: seroma, subacute hematoma, and chronic organizing hematoma. Potential mimics of Morel-Lavallée lesions, such as soft tissue sarcoma and hemorrhagic prepatellar bursitis, are compared and contrasted. Treatment options and a management algorithm are also briefly discussed. PMID:23949106

  7. Microbiological and Clinical Features of Four Cases of Catheter-Related Infection by Methylobacterium radiotolerans.

    PubMed

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

    2015-04-01

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

  8. First report on clinical features of Mycoplasma pneumoniae infections in Vietnamese children.

    PubMed

    Huong, Phan L T; Thi, Ngo T; Nguyet, Nguyen T T; Van, Ta K; Hang, Dang T; Huong, Vu T T; Anh, Dang D; Sasaki, Tsuguo

    2007-11-01

    Mycoplasma pneumoniae is a common cause of community-acquired pneumonia (CAP) in children, but there has been no clinical report on M. pneumoniae infections in Vietnamese children. We investigated the clinical features of M. pneumoniae infection when the pathogen was detected in the respiratory tract in hospitalized children aged 1-15 years due to lower respiratory tract infections or CAP in Vietnamese children. Throat swabs from 47 patients (18.6%) of 252 patients with a clinical diagnosis of CAP were PCR positive (male, 34; female, 13), and 21 throat swabs (8.3%) showed culture positive for M. pneumoniae. The M. pneumoniae pathogen could be detected by PCR and/or culture in 52 patients (male, 36; female, 16). The major clinical signs in the 52 patients were fever (>38 degrees C) in 100%, pharyngitis in 100%, tachypnea in 94%, dry cough in 86.5%, and rough breathing in 83% of patients. The average term of illness prior to hospitalization was 7.5+/-4.1 days, and the average number of hospitalized days was 7.9+/-3.5 days. Beta-lactam group antibiotics, which were ineffective against M. pneumoniae infection, were used in 37 cases (71%). PMID:18032837

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

    PubMed Central

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

    2013-01-01

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

  10. Clinical features, proximate causes, and consequences of active convulsive epilepsy in Africa

    PubMed Central

    Kariuki, Symon M; Matuja, William; Akpalu, Albert; Kakooza-Mwesige, Angelina; Chabi, Martin; Wagner, Ryan G; Connor, Myles; Chengo, Eddie; Ngugi, Anthony K; Odhiambo, Rachael; Bottomley, Christian; White, Steven; Sander, Josemir W; Neville, Brian G R; Newton, Charles R J C

    2014-01-01

    Purpose Epilepsy is common in sub-Saharan Africa (SSA), but the clinical features and consequences are poorly characterized. Most studies are hospital-based, and few studies have compared different ecological sites in SSA. We described active convulsive epilepsy (ACE) identified in cross-sectional community-based surveys in SSA, to understand the proximate causes, features, and consequences. Methods We performed a detailed clinical and neurophysiologic description of ACE cases identified from a community survey of 584,586 people using medical history, neurologic examination, and electroencephalography (EEG) data from five sites in Africa: South Africa; Tanzania; Uganda; Kenya; and Ghana. The cases were examined by clinicians to discover risk factors, clinical features, and consequences of epilepsy. We used logistic regression to determine the epilepsy factors associated with medical comorbidities. Key Findings Half (51%) of the 2,170 people with ACE were children and 69% of seizures began in childhood. Focal features (EEG, seizure types, and neurologic deficits) were present in 58% of ACE cases, and these varied significantly with site. Status epilepticus occurred in 25% of people with ACE. Only 36% received antiepileptic drugs (phenobarbital was the most common drug [95%]), and the proportion varied significantly with the site. Proximate causes of ACE were adverse perinatal events (11%) for onset of seizures before 18 years; and acute encephalopathy (10%) and head injury prior to seizure onset (3%). Important comorbidities were malnutrition (15%), cognitive impairment (23%), and neurologic deficits (15%). The consequences of ACE were burns (16%), head injuries (postseizure) (1%), lack of education (43%), and being unmarried (67%) or unemployed (57%) in adults, all significantly more common than in those without epilepsy. Significance There were significant differences in the comorbidities across sites. Focal features are common in ACE, suggesting identifiable and preventable causes. Malnutrition and cognitive and neurologic deficits are common in people with ACE and should be integrated into the management of epilepsy in this region. Consequences of epilepsy such as burns, lack of education, poor marriage prospects, and unemployment need to be addressed. PMID:24116877

  11. Appreciating the broad clinical features of SMAD4 mutation carriers: a multi-center chart review

    PubMed Central

    Wain, K.E.; Ellingson, M.S.; McDonald, J.; Gammon, A.; Roberts, M.; Pichurin, P.; Winship, I.; Riegert-Johnson, D.; Weitzel, J. N.; Lindor, N.M.

    2014-01-01

    Heterozygous loss-of-function (LOF) SMAD4 mutations are associated with juvenile polyposis syndrome (JP) and hereditary hemorrhagic telangiectasia (HHT). Some carriers exhibit symptoms of both conditions, leading to the name JP-HHT syndrome. Three families have been reported with connective tissue abnormalities. In order 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 (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), lax skin and joints (n=1). JP-specific findings were almost uniformly present but variable. Ninety-seven percent had colon polyps that were generally pan-colonic and of variable histology and number. Forty-eight percent (15/31) had extensive gastric polyposis. HHT features were documented in 76% including epistaxis (19/31, 61%), mucocutaneous telangiectases (15/31, 48%), liver arteriovenous malformation (AVM) (6/16, 38%), brain AVM (1/26, 4%), pulmonary AVM (9/17, 53%), and intrapulmonary shunting (14/23, 61%). SMAD4 carriers should be managed for JP and HHT, since symptoms of both are likely yet unpredictable. Connective tissue abnormalities are an emerging component of JP-HHT syndrome, and larger studies are needed to understand these manifestations. PMID:24525918

  12. THE RARE DISEASES CLINICAL RESEARCH NETWORK CONTACT REGISTRY UPDATE: FEATURES AND FUNCTIONALITY

    PubMed Central

    Richesson, Rachel; Sutphen, Rebecca; Shereff, Denise; Krischer, Jeff

    2013-01-01

    The Rare Diseases Clinical Research Network (RDCRN) Contact Registry has grown in size and scope since it was first reported in this journal in 2007. In this paper, we reflect on our seven years’ experience developing and expanding the RDCRN Contact Registry to include many more rare diseases. We present the functional and data requirements that motivated this registry, and the new features and policies that have been developed since. Given the high costs and long-term commitment required to build patient registries, the RDCRN Contact Registry experience represents a reasonable approach for identifying and cultivating potential research populations, with minimal resources and patient burden. The basic model of a patient-reported registry has not changed since our 2007 report, but the number of diseases has grown from 42 to 201, and the types of information that are exchanged with participants has expanded. A patient-directed information-sharing feature has been added to reduce barriers to communication between investigators and patients affected by rare and genetic diseases. As specific data and research needs arise, the Contact Registry can be leveraged to access needed data or to solicit patients for particular research opportunities. This multiple-disease registry is scalable, expandable, and standards-driven, and has become a model for clinical and translational research across rare and many other diseases. PMID:22405970

  13. 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

  14. Trichophyton tonsurans infection in Japan: Epidemiology, clinical features, diagnosis and infection control.

    PubMed

    Hiruma, Junichiro; Ogawa, Yumi; Hiruma, Masataro

    2015-03-01

    In this review, we summarize the status of Trichophyton tonsurans infection in Japan in terms of epidemiology, clinical features, diagnosis and infection control. Since approximately 2000, outbreaks of T. tonsurans infections among combat sports club members have been reported frequently, with the infection then spreading to their friends and family members. The most common clinical features of T. tonsurans infection are tinea corporis, which is difficult to differentiate from eczema, and tinea capitis. Tinea capitis is classified as the seborrheic form, kerion celsi form or "black dot" form, although 90% or more of patients are asymptomatic carriers. The diagnosis of symptomatic T. tonsurans infection is established by potassium hydroxide examination and fungal culture. However, because there are many asymptomatic carriers of T. tonsurans infection, tests using the hairbrush culture method are necessary. An increase in asymptomatic carriers of T. tonsurans makes assessment of the current prevalence of the infection challenging and underscores the importance of educational efforts and public awareness campaigns to prevent T. tonsurans epidemics. PMID:25736317

  15. Immune thrombocytopenia: epidemiological and clinical features of 216 patients in northwestern Turkey.

    PubMed

    Koylu, Ahmet; Pamuk, Gulsum Emel; Uyanik, Mehmet Sevki; Demir, Muzaffer; Pamuk, Omer Nuri

    2015-03-01

    We evaluated the clinical features, treatment modalities, treatment responses, and prognosis of our patients with immune thrombocytopenia (ITP). Furthermore, we estimated the frequency of ITP in the Thrace region of Turkey. Two hundred sixteen patients diagnosed with ITP between 2000 and 2012 at our center were retrospectively evaluated. Patients' clinical features, treatments, and responses to treatment modalities were recorded. The mean annual incidence of ITP was 2.92/100,000 (95%CI: 1.57-4.27). The overall prevalence of ITP was 35.1/100,000 (95%CI: 30.3-39.8). The administration of first-line therapy resulted in complete remission (CR) in 76.5 % of patients and partial remission (PR) in 13.6 %. After 5 years, 33 % of patients who were responsive to first-line therapy were still in relapse-free remission. Of patients who were given second-line therapy, CR was obtained in 71.3 % and PR in 14.9 %. The duration of relapse-free remission was longer with splenectomy than with steroids (p?

  16. Familial deletion of 18p associated with Turner like clinical features

    SciTech Connect

    Say, B.; Gopal Rao, V.V.N.; Harris, S. [H.A. Chapman Institute of Medical Genetics, Tulsa, OK (United States)] [and others

    1994-09-01

    The authors report the first occurrence to our knowledge of a familial deletion of the short arm of chromosome 18 in a mother and daughter. The proband is an 18-year-old female referred for chromosomal analysis because of mental retardation and short stature. She is the only offspring. Her birth weight was 3 pounds 10 ounces (below 5th percentile). As a child, she had delayed milestones. Her IQ is 69 and she is in classes for the educable mentally handicapped. Her height is 145.6 cm and weight 38.7 kg (both below 5th percentile). Physical examination revealed a low nuchal hairline. She has myopia. Chromosome analysis from peripheral blood lymphocytes revealed a 46,XX,del(18)(p11.21) karyotype. Since some of the same clinical features are also seen in the mother including short stature (157 cm), mental retardation, ocular problems like cataracts, exotropia and refractive error, chromosome analysis was performed which showed the same 46,XX,del(18)(p11.21) karyotype. A familial case like this has great implications in genetic counseling. Since the syndrome is not associated with sterility, the recurrence risk for the offspring is 50%. Patients with deletion (18p) syndrome are reported to have findings suggestive of Turner syndrome with varying degrees of mental retardation. We recommend that in patients with such clinical features associated with mental retardation, normal menstrual history and/or fertility, the possibility of deletion (18p) syndrome be considered.

  17. Primary vs. Secondary Antibody Deficiency: Clinical Features and Infection Outcomes of Immunoglobulin Replacement

    PubMed Central

    Duraisingham, Sai S.; Buckland, Matthew; Dempster, John; Lorenzo, Lorena; Grigoriadou, Sofia; Longhurst, Hilary J.

    2014-01-01

    Secondary antibody deficiency can occur as a result of haematological malignancies or certain medications, but not much is known about the clinical and immunological features of this group of patients as a whole. Here we describe a cohort of 167 patients with primary or secondary antibody deficiencies on immunoglobulin (Ig)-replacement treatment. The demographics, causes of immunodeficiency, diagnostic delay, clinical and laboratory features, and infection frequency were analysed retrospectively. Chemotherapy for B cell lymphoma and the use of Rituximab, corticosteroids or immunosuppressive medications were the most common causes of secondary antibody deficiency in this cohort. There was no difference in diagnostic delay or bronchiectasis between primary and secondary antibody deficiency patients, and both groups experienced disorders associated with immune dysregulation. Secondary antibody deficiency patients had similar baseline levels of serum IgG, but higher IgM and IgA, and a higher frequency of switched memory B cells than primary antibody deficiency patients. Serious and non-serious infections before and after Ig-replacement were also compared in both groups. Although secondary antibody deficiency patients had more serious infections before initiation of Ig-replacement, treatment resulted in a significant reduction of serious and non-serious infections in both primary and secondary antibody deficiency patients. Patients with secondary antibody deficiency experience similar delays in diagnosis as primary antibody deficiency patients and can also benefit from immunoglobulin-replacement treatment. PMID:24971644

  18. Cardio-facio-cutaneous syndrome: clinical features, diagnosis, and management guidelines.

    PubMed

    Pierpont, Mary Ella M; 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

    2014-10-01

    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

  19. Hereditary gingival fibromatosis: Clinical and ultrastructural features of a new family

    PubMed Central

    Coletta, Ricardo D.; Mendes, Danilo-Cangussu; de Faria, Paulo-Rogério; Melo-Filho, Mário R.; Alves, Lucas-Rodrigues; Martelli-Júnior, Hercílio

    2015-01-01

    Objective: This article describes the diagnosis, clinical and microscopic (histopathology and ultrastructural) features and treatment of a new family with hereditary gingival fibromatosis (HGF) and highlights the importance of this genetic condition. Study Design: To characterize the pattern of inheritance and the clinical features, members of a new family with HGF were examined. The pedigree was reliably constructed including the four latest generations of family. Hematoxylin and eosin staining and ultrastructural analysis were performed with the gingival tissue. Results: Examination of the family pedigree revealed that the patient III-2 represent the index patient of this family (initial patient with a mutation), which was transmitted to her daughter through an autosomal dominant mode of inheritance. The affected patients showed a generalized gingival overgrowth. The patient was treated with surgical procedures of gingivectomy and gingivoplasty. The diagnosis was confirmed by histopathology examination that showed a well-structured epithelium with elongated and thin papillae inserted in fibrous connective tissue with increased amount of collagen. The ultrastructural aspects of the tissue show collagen fibrils exhibiting their typically repeating banding pattern with some fibrils displaying loops at their end. Moreover, it was possible to seen in some regions fibrillar component presenting tortuous aspects and loss of the alignment among them. Conclusions: This HGF frequently resulted in both esthetic and functional problems. The genetic pattern of this Brazilian family suggested a new mutation, which was later transmitted by an autosomal dominant trait. Key words:Gingival fibromatosis, genetic disease, pedigree, ultrastructure. PMID:25475776

  20. Unique sequence features of the Human Adenovirus 31 complete genomic sequence are conserved in clinical isolates

    PubMed Central

    2009-01-01

    Background Human adenoviruses (HAdV) are causing a broad spectrum of diseases. One of the most severe forms of adenovirus infection is a disseminated disease resulting in significant morbidity and mortality. Several reports in recent years have identified HAdV-31 from species A (HAdV-A31) as a cause of disseminated disease in children following haematopoetic stem cell transplantation (hSCT) and liver transplantation. We sequenced and analyzed the complete genome of the HAdV-A31 prototype strain to uncover unique sequence motifs associated with its high virulence. Moreover, we sequenced coding regions known to be essential for tropism and virulence (early transcription units E1A, E3, E4, the fiber knob and the penton base) of HAdV-A31 clinical isolates from patients with disseminated disease. Results The genome size of HAdV-A31 is 33763 base pairs (bp) in length with a GC content of 46.36%. Nucleotide alignment to the closely related HAdV-A12 revealed an overall homology of 84.2%. The genome organization into early, intermediate and late regions is similar to HAdV-A12. Sequence analysis of the prototype strain showed unique sequence features such as an immunoglobulin-like domain in the species A specific gene product E3 CR1 beta and a potentially integrin binding RGD motif in the C-terminal region of the protein IX. These features were conserved in all analyzed clinical isolates. Overall, amino acid sequences of clinical isolates were highly conserved compared to the prototype (99.2 to 100%), but a synonymous/non synonymous ratio (S/N) of 2.36 in E3 CR1 beta suggested positive selection. Conclusion Unique sequence features of HAdV-A31 may enhance its ability to escape the host's immune surveillance and may facilitate a promiscuous tropism for various tissues. Moderate evolution of clinical isolates did not indicate the emergence of new HAdV-A31 subtypes in the recent years. PMID:19939241

  1. Demographic and clinical features of gout patients in Turkey: a multicenter study.

    PubMed

    Öztürk, Mehmet Akif; Kaya, Arif; ?enel, Soner; Dönmez, Salim; Balkarl?, Ay?e; Çobankara, Veli; Erhan, Çi?dem; Sayarl?o?lu, Mehmet; Ugan, Yunus; Tunç, ? Ercan; Pehlivan, Yavuz; K?sac?k, Bünyamin; Tufan, Abdurrahman; Onat, Ahmet Mesut; Tezcan, Engin; Y?ld?r?m Çetin, Gözde; Pamuk, Omer Nuri

    2013-04-01

    Gout results from multifactor interactions between gender, age, genetic and environmental factors. Environmental factors underlying gout and precipitating factors triggering acute attacks might vary in different populations with different lifestyles. In this study, we aimed to collect data regarding the demographic and clinical features, comorbid factors, and precipitating factors associated with the initiation of acute attacks in gout patients in Turkey. A total of 312 patients were included in this study (mean age, 58.8 ± 13.8 years; female/male ratio, 55/257). The demographic features, alcohol intake, clinical and laboratory features, and comorbid conditions including obesity, diabetes mellitus, hyperlipidemia, hypertension, and coronary heart disease were noted in a standard questionnaire. Precipitating factors initiating acute attacks (if any) were also noted. The patients were divided into 4 groups according to the region of location as central Anatolian region, southeast Anatolian region, Aegean region, and Trakya region. Our results were compared according to the gender and the location of the patients. The mean age at the start of the symptoms was 10 years higher in women (60.4 ± 14.8 and 50.6 ± 13.5 years in women and men, respectively, p < 0.001).Obesity was present in 40.1 %, diabetes mellitus in 17.9 %, hyperlipidemia in 30.1 %, hypertension in 53.5 %, coronary artery disease in 17 %, and nephrolithiasis in 21.8 % of patients. Precipitating factors triggering gout flares were as follows: diet (high consumption of meat or fish) in 46.5 %, alcohol consumption in 15.7 %, diuretics in 8.3 %, diet or diuretics in 5.1 %, diet or alcohol in 4.5 %, diet or alcohol or diuretics in 1.6 %, others in 4.2 %, and none in 14.1 %. The presence of diabetes and diuretic use was more common among women. Use of diuretics is a more common trigger for gout flares among women. On the other hand, various comorbid conditions, such as obesity and hypertension, and triggers for gout flares may differ between patients living in different geographic regions. In summary, we reported the first data regarding clinical and demographic characteristics of gout in Turkey. The majority of our patients could describe at least one "trigger" that initiated gout flare. Both comorbid conditions and triggers of attack might differ between men and women, and in different geographic areas. Better knowledge of the modifiable risk factors can be useful for the management strategy to optimize long-term patient outcomes in local clinics. PMID:22588430

  2. Clinical Features and Risk Factors for Atazanavir (ATV)-Associated Urolithiasis: A Case-Control Study

    PubMed Central

    Lafaurie, Matthieu; De Sousa, Barbara; Ponscarme, Diane; Lapidus, Nathanael; Daudon, Michel; Weiss, Laurence; Rioux, Christophe; Fourn, Erwan; Katlama, Christine; Molina, Jean-Michel

    2014-01-01

    Objectives Clinical features and risk factors for atazanavir (ATV)-associated urolithiasis have not been fully investigated. Methods We reviewed all cases of ATV-containing urolithiasis identified by infrared spectrophotometry among HIV-infected patients over a 5-year period to describe their clinical features and outcome. A case-control study was performed to identify risk factors associated with ATV-associated urolithiasis using univariate and multivariate logistic regression analyses. Results 30 cases of ATV-associated urolithiasis were analyzed. Patients were mostly men (87%), median age: 45.5 years, median CD4 cell count: 443 cells/µL and 97% had plasma HIV RNA level <50 cp/mL. Median time between the initiation of ATV-containing regimen and the diagnosis of urolithiasis was 3.1 years. Patients presented with flank pain in 90% and macroscopic hematuria in 82.6%, 34% had renal dysfunction and 44.8% needed ureteroscopic treatment. In univariate analysis, chronic hepatitis C, a history of urolithiasis, prior use of indinavir, ATV duration, undetectable plasma HIV RNA, use of ritonavir as a booster and serum free bilirubin level were associated with ATV-urolithiasis. Multivariate models retained serum free bilirubin level (OR: 2.31, p<0.02) and either ATV duration (OR: ?=?1.42, p?=?<0.03) or a history of urolithiasis (OR?=?4.79, p<0.02) when adjusting on serum free bilirubin level as risk factors associated with urolithiasis. Conclusions ATV-containing urolithiasis are associated with frank clinical symptoms and may require surgical intervention. A high serum bilirubin level, a long exposure to ATV and a history of urolithiasis are risk factors for this rare adverse event. PMID:25409506

  3. The Clinical Features and Emotional Stressors in Korean Patients with Tako-Tsubo Cardiomyopathy

    PubMed Central

    Song, Bong Gun; Oh, Ju Hyeon; Park, Yong Hwan; Kang, Gu Hyun; Chun, Woo Jung

    2012-01-01

    Background. Tako-tsubo cardiomyopathy (TTC) is typically triggered by an acute emotional or physical stress events. Aim of this study was to investigate the impact of emotional stressors on clinical features, laboratory parameters, electrocardiographic and echocardiographic findings in patients with TTC. Methods. Of 103 patients enrolled from the TTC registry database, fifteen patients had emotional triggers (E group), and 88 patients had physical triggers or no triggers (other group). Results. Most clinical presentations and in-hospital courses were similar between the groups. However, E group had higher prevalence of chest pain (87 versus 42 %, P = 0.001), palpitation (27 versus 6%, P = 0.008), whereas other group had higher prevalence of cardiogenic shock (35 versus 7%, P = 0.027). E group had significantly higher corrected QT intervals (median, 477.5 versus 438?ms, P = 0.001), and left ventricular ejection fraction (LVEF) (mean, 45.7 versus 39.6%, P = 0.001), but lower hs-CRP (median, 0.1 versus 3.3?mg/L, P = 0.001), CK-MB (median, 5.5 versus 11.9?ng/mL, P = 0.047), troponin-I (median, 1.0 versus 3.2?ng/mL, P = 0.011), and NT-proBNP levels (median, 2145 versus 4939?pg/mL, P = 0.020). Other group required more frequent hemodynamic support and had significantly longer intensive care unit (median, 3 versus 1 days, P = 0.005) and in-hospital (median, 17 versus 3 days, P = 0.001) durations. Conclusion. The clinical features of TTC are different between groups with and without preceding emotional stressors. The TTC group with preceding emotional stressors was more likely to have preserved cardiovascular reserve and lesser likely to require hemodynamic support than other group although the entire prognosis of TTC is excellent regardless of triggering stressors. PMID:23008757

  4. Overlap of clinical features of Smith-Magenis & Down Syndrome in newborns and infants

    SciTech Connect

    Thomson, K.A.; Finucane, B.M.; Bauer, M.S. [Integrated Genetics, West Paterson, NJ (United States)] [and others

    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.

  5. High Levels of KAP1 Expression Are Associated with Aggressive Clinical Features in Ovarian Cancer

    PubMed Central

    Cui, Yanfen; Yang, Shaobin; Fu, Xin; Feng, Jingwen; Xu, Shilei; Ying, Guoguang

    2014-01-01

    KAP1 is an universal corepressor for Kruppel-associated box zinc finger proteins in both normal and tumor cells. In this study, the biological function and clinical significance of KAP1 expression in ovarian cancer were investigated. Immunohistological staining of KAP1 was evaluated in 111 patients with ovarian epithelial cancer, 15 with ovarian borderline tumor, and 20 normal ovarian tissue. The correlations of KAP1 expression with clinicopathological features were studied. Kaplan-Meier analysis and Cox proportional hazard modeling were used to assess overall survival to analyze the effect of KAP1 expression on the prognosis of ovarian cancer. The positive rates of KAP1 were significantly higher in ovarian epithelial cancer (55.7%) and borderline tumor (20.0%) than in normal ovarian tissue (5.0%) (all p < 0.01). KAP1 expression correlated significantly with clinical stage (?2 = 14.57, p < 0.0001), pathological grade (?2 = 6.06, p = 0.048) and metastases (?2 =10.38, p = 0.001). Patients with high KAP 1 levels showed poor survival (p < 0.0001). Multivariate analysis showed that KAP1 high expression was an independent predictor for ovarian cancer patients (hazard ratio = 0.463; 95% confidence interval = 0.230–0.9318, p = 0.031). Functionally, depletion of KAP1 by siRNA inhibited ovarian cancer cell proliferation, cell migration. KAP1 expression correlated with aggressive clinical features in ovarian cancer. High KAP1 expression was a prognostic factor of ovarian cancer. PMID:25548895

  6. Gelastic seizures: incidence, clinical and EEG features in adult patients undergoing video-EEG telemetry.

    PubMed

    Kovac, Stjepana; Diehl, Beate; Wehner, Tim; Fois, Chiara; Toms, Nathan; Walker, Matthew C; Duncan, John S

    2015-01-01

    This study aimed to determine clinical features of adult patients with gelastic seizures recorded on video -electroencephalography (EEG) over a 5-year period. We screened video-EEG telemetry reports for the occurrence of the term "gelastic" seizures, and assessed the semiology, EEG features, and duration of those seizures. Gelastic seizures were identified in 19 (0.8%) of 2,446 admissions. The presumed epileptogenic zone was in the hypothalamus in one third of the cases, temporal lobe epilepsy was diagnosed in another third, and the remainder of the cases presenting with gelastic seizures were classified as frontal, parietal lobe epilepsy or remained undetermined or were multifocal. Gelastic seizures were embedded in a semiology, with part of the seizure showing features of automotor seizures. A small proportion of patients underwent epilepsy surgery. Outcome of epilepsy surgery was related to the underlying pathology; two patients with hippocampal sclerosis had good outcomes following temporal lobe resection and one of four patients with hypothalamic hamartomas undergoing gamma knife surgery had a good outcome. PMID:25516460

  7. Mitochondrial neurogastrointestinal encephalomyopathy in three siblings: clinical, genetic and neuroradiological features.

    PubMed

    Schüpbach, W M M; Vadday, K Madhavi; Schaller, A; Brekenfeld, C; Kappeler, L; Benoist, J F; Xuan-Huong, C Nguyen-Thi; Burgunder, J M; Seibold, F; Gallati, S; Mattle, H P

    2007-02-01

    Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) is a rare autosomal recessive disorder in which a nuclear mutation of the thymidine phosphorylase (TP) gene causes mitochondrial genomic dysfunction. Patients suffer from gastrointestinal dysmotility, cachexia, ptosis, external ophthalmoparesis, myopathy and polyneuropathy. Magnetic resonance imaging (MRI) shows leukoencephalopathy. We describe clinical, genetic and neuroradiological features of three brothers affected with MNGIE. Clinical examination, laboratory analyses, MRI and magnetic resonance spectroscopy (MRS) of the brain, and genetic analysis have been performed in all six members of the family with the three patients with MNGIE. Two of them are monozygous twins. They all suffered from gastrointestinal dysmotility, cachexia, ophthalmoplegia, muscular atrophies, and polyneuropathy. Urinary thymidine was elevated in the patients related to the severity of clinical disease, and urinary thymidine (normally not detectable) was also found in a heterozygous carrier. Brain MRI showed leukoencephalopathy in all patients; however, their cognitive functioning was normal. Brain MRS demonstrated reduced N-acetylaspartate and choline in severely affected areas. MRI of heterozygous carriers was normal. A new mutation (T92N) in the TP gene was identified. Urinary thymidine is for the first time reported to be detectable in a heterozygous carrier. MRS findings indicate loss of neurons, axons, and glial cells in patients with MNGIE, but not in heterozygous carriers. PMID:17294068

  8. Clinical Characteristics and Metabolic Features of Patients with Adrenal Incidentalomas with or without Subclinical Cushing's Syndrome

    PubMed Central

    Kim, Bo-Yeon; Chun, A-Reum; Kim, Kyu-Jin; Jung, Chan-Hee; Kang, Sung Koo; Mok, Ji-Oh

    2014-01-01

    Background The aim of this study was to examine the clinical characteristics of adrenal incidentalomas discovered by computed tomography (CT) and to investigate metabolic features of subclinical Cushing's syndrome (SCS) in patients with adrenal incidentalomas in a tertiary hospital in Korea. Methods This retrospective study examined the clinical aspects of 268 patients with adrenal incidentalomas discovered by CT at Soonchunhyang University Bucheon Hospital. Clinical data and endocrine function of the patients as well as histological findings were obtained from medical records, while anatomic characteristics were analyzed by reviewing imaging studies. Hormonal tests for pheochromocytoma, Cushing's syndrome, and aldosterone-secreting adenoma were performed. Results Most (n=218, 81.3%) cases were nonfunctioning tumors. Of the 50 patients with functioning tumors (18.7%), 19 (7.1%) were diagnosed with SCS, nine (3.4%) with overt Cushing's syndrome, 12 (4.5%) with primary aldosteronism, and 10 (3.7%) with pheochromocytoma. Malignant tumors (both primary and metastatic) were rare (n=2, 0.7%). Body mass index, fasting glucose, hemoglobin A1c, and total cholesterol were significantly higher in patients with SCS in comparison with those with nonfunctioning tumors. The prevalence of type 2 diabetes mellitus and hypertension were significantly higher in patients with SCS compared with those with nonfunctioning tumors. Conclusion Functioning tumors, especially those with subclinical cortisol excess, are commonly found in patients with adrenal incidentalomas, although malignancy is rare. In addition, patients with SCS in adrenal incidentalomas have adverse metabolic and cardiovascular profiles. PMID:25325264

  9. Clinical and radiological features of pituitary stalk lesions in children and adolescents

    PubMed Central

    Yoon, Sung Chul; Shin, Choong Ho; Yang, Sei Won

    2014-01-01

    Purpose The diagnosis of pituitary stalk lesion has been based on clinical feature, radiologic assessment for its critical location and role. This study aimed to investigate clinical symptoms, endocrine disturbance, magnetic resonance imaging (MRI) findings of pituitary stalk lesions in children and adolescents and to evaluate differences between neoplastic lesions with the others. Methods We performed a retrospective review of patients under 18 years old with pituitary stalk lesions diagnosed at the Seoul National University Children's Hospital between 2000 and 2013, by a text search for head MRI reports by using 'pituitary stalk', 'infundibulum', and 'infundibular stalk', as keywords. Results For the 76 patients, sixteen patients (21.1%) had congenital lesions, and 52 (68.4%) had neoplasms. No inflammatory lesions were found. Diabetes insipidus (DI) was the most common endocrine defect, diagnosed in 38 patients (50%). There was male predominance especially in neoplastic group. Thickened pituitary stalk was, but enhancement of lesion was not, associated with neoplasm. DI was more prevalent in neoplastic stalk lesions. Anterior pituitary dysfunction such as growth hormone and adrenocorticotropic hormone deficiencies were less prevalent in neoplastic lesions of pituitary stalk. Conclusion In conclusion, the etiology of pituitary stalk lesions in children and adolescents is diverse and different from that in adults. Neoplastic pituitary stalk lesions can be differentiated from nonneoplastic lesions by systemic evaluation of clinical, hormonal, radiological findings. PMID:25654066

  10. 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

  11. 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

    2015-01-26

    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

  12. Clinical Features: CDKL5 mutations have been demonstrated in a broad spectrum of phenotypes [1-5], including

    E-print Network

    Ober, Carole

    6/11 Clinical Features: CDKL5 mutations have been demonstrated in a broad spectrum of phenotypes [1 feature found in patients reported to date with CDKL5 mutations is the early onset of seizures. 13/14 patients studied had seizures before 3 months of age [1]. Inheritance: CDKL5 mutations are X

  13. Clinical Features: CDKL5 mutations have been demonstrated in a broad spectrum of phenotypes [1-5], including

    E-print Network

    Ober, Carole

    1/13 Clinical Features: CDKL5 mutations have been demonstrated in a broad spectrum of phenotypes [1 feature found in patients reported to date with CDKL5 mutations is the early onset of seizures. 13/14 patients studied had seizures before 3 months of age [1]. Inheritance: CDKL5 mutations are X

  14. Clinical Features: CDKL5 mutations have been demonstrated in a broad spectrum of phenotypes [1-5], including

    E-print Network

    Das, Soma

    3/10 Clinical Features: CDKL5 mutations have been demonstrated in a broad spectrum of phenotypes [1 feature found in patients reported to date with CDKL5 mutations is the early onset of seizures. 13/14 patients studied had seizures before 3 months of age [1]. Inheritance: CDKL5 mutations are X

  15. Distinguishing Molecular Features and Clinical Characteristics of a Putative New Rhinovirus Species, Human Rhinovirus C (HRV C)

    Microsoft Academic Search

    Peter McErlean; Laura A. Shackelton; Emily Andrews; Dale R. Webster; Stephen B. Lambert; Michael D. Nissen; Theo P. Sloots; Ian M. Mackay; Dong-Yan Jin

    2008-01-01

    BackgroundHuman rhinoviruses (HRVs) are the most frequently detected pathogens in acute respiratory tract infections (ARTIs) and yet little is known about the prevalence, recurrence, structure and clinical impact of individual members. During 2007, the complete coding sequences of six previously unknown and highly divergent HRV strains were reported. To catalogue the molecular and clinical features distinguishing the divergent HRV strains,

  16. A retrospective study of Creutzfeldt-Jakob disease in England and Wales 1970-79. I: Clinical features.

    PubMed Central

    Will, R G; Matthews, W B

    1984-01-01

    A comprehensive search yielded 121 confirmed cases of Creutzfeldt-Jakob disease who died in England and Wales in the decade 1970-79, and 31 probable cases. The clinical features and the results of investigation are described. Three subgroups of patients were distinguished by clinical characteristics and contrasting course. PMID:6368752

  17. Cellular localization of CYP3A proteins in various tissues from pilot whale ( Globicephala melas)

    Microsoft Academic Search

    Malin C Celander; Michael J Moore; John J Stegeman

    2000-01-01

    The in situ expression of cytochrome P450 3A- (CYP3A) like proteins in hepatic and extrahepatic tissues from a marine mammal, pilot whale (Globicephala melas), was investigated. Polyclonal antibodies (PAb) raised against either rat CYP3A1 or trout CYP3A27 both recognized a microsomal protein band in liver, lung, kidney and heart. The protein band observed in liver and lung had slightly lower

  18. Morphometry of non-native black bullhead Ameiurus melas from Slovakia

    Microsoft Academic Search

    Andrea Novomeská; Vladimír Ková?; Stanislav Katina

    2010-01-01

    The study on the external morphology of the non-native black bullhead (Ameiurus melas) was carried out on a population from Slovakia, based on triple regression and geometrical analysis. The breakpoints distribution\\u000a in distance-based morphometric characters indicated that black bullhead reached its definitive phenotype early in ontogeny.\\u000a Ontogenetic changes in external morphology occurred continuously throughout the whole size-range of the sample

  19. Increased cerebral blood flow in MELAS shown by Tc99m HMPAO brain SPECT

    Microsoft Academic Search

    N. J. Peng; R. S. Liu; J. Y. Li; D. G. Tsay; K. W. Kong; C. G. Kwok; H. W. Strauss

    2000-01-01

    We report cerebral SPECT studies on two siblings with the syndrome of mitochondrial myopathy, encephalopathy, lactic acidosis\\u000a and stroke-like episodes (MELAS). Tc-99m HMPAO brain SPECT was performed 8, 19 and 30 days after a stroke-like episode in\\u000a one case and 10 days after a stroke-like episode, 6 h after a partial seizure and as a follow-up study in the other.

  20. 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

  1. PCDH19-related female-limited epilepsy: further details regarding early clinical features and therapeutic efficacy.

    PubMed

    Higurashi, Norimichi; Nakamura, Mai; Sugai, Misaki; Ohfu, Masaharu; Sakauchi, Masako; Sugawara, Yuji; Nakamura, Kazuyuki; Kato, Mitsuhiro; Usui, Daisuke; Mogami, Yukiko; Fujiwara, Yumi; Ito, Tomoshiro; Ikeda, Hiroko; Imai, Katsumi; Takahashi, Yukitoshi; Nukui, Megumi; Inoue, Takeshi; Okazaki, Shin; Kirino, Tomoko; Tomonoh, Yuko; Inoue, Takahito; Takano, Kyoko; Shimakawa, Shuichi; Hirose, Shinichi

    2013-09-01

    Abnormalities in the protocadherin 19 (PCDH19) gene cause early-onset epilepsy exclusively in females. We aimed to explore the genetic and clinical characteristics of PCDH19-related epilepsy by focusing on its early features and treatment efficacy. PCDH19 was analyzed in 159 Japanese female patients with early-onset epilepsy via direct sequencing and multiplex ligation-dependent probe amplification (MLPA) analysis. We identified 17 patients with PCDH19 abnormalities: point mutations were observed in 14 patients and whole PCDH19 deletions were detected in 3 patients. One affected sister of a proband with a mild phenotype was also analyzed. The frequency of PCDH19 deletion among all probands identified in Japan was 12.5% (3/24, including 7 probands reported previously by us). Clinical features included early onset (mean age at onset, 8.6 months), recurrent clusters of brief seizures (17/18), fever sensitivity (18/18), tonic seizures (13/18, probably including focal tonic seizures), tonic-clonic seizures (8/18), focal seizures often with subsequent generalization (17/18), intellectual disabilities (15/18), and autistic traits (13/18). Three patients exhibited delay in motor milestones before seizure onset. In 16 patients, seizures appeared in clusters from the onset of the disease. Among 6 patients for whom detailed information at onset was available, 2 onset patterns were identified: a biphasic course of short seizure clusters (each within days) in 2 patients and a prolonged course of clusters (from weeks to a month) in 4 patients. In both cases, initial seizures started during fever and transiently disappeared with the decline of fever; however, afebrile clusters recurred. In the former patients, motor development was delayed before onset, and seizures appeared in strong clusters from the onset of the disease. In the latter patients, initial development was normal and initial seizures were mild, but were followed by strong clusters lasting several weeks, even without fever. Treatment using phenytoin, potassium bromide, and clobazam showed high efficacy. Although focal seizures were the main feature in PCDH19-epilepsy, the efficacy of carbamazepine was poor. This study highlighted the significance of PCDH19 deletion, a unique pattern of initial seizure clusters, and the efficacy of antiepileptic drugs. Our data will facilitate early diagnosis and development of a treatment strategy for better clinical management of patients with PCDH19-related epilepsy. PMID:23712037

  2. 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

  3. 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

  4. Posttraumatic spinal cord cysts: clinical features and characterization with metrizamide computed tomography

    SciTech Connect

    Quencer, R.M.; Green, B.A.; Eismont, F.J.

    1983-02-01

    Sixteen patients with posttraumatic spinal cord cysts (PTSCC) were evaluated clinically and studied with metrizamide computed tomography (MCT). These patients presented months to years following a severe spinal cord injury, usually with new or progressively worsening neurological symptoms. The development of the PTSCC was unrelated to the location, type, and severity of injury, or to the time interval from the original injury. MCT showed that these cysts occur most frequently in normal or atrophic cords, they may be multiple, they most frequently are found in the dorsal portion of the cord, and they may vary along their length in width and position within the cord. Knowledge of this radiographic morphology is crucial to the surgical planning. The location of the cysts and the mode of their enlargement are correlated with anatomic features of the spinal cord and changes in cerebrospinal fluid dynamics. Cyst-to-subarachnoid space shunting relieves the majority of symptoms.

  5. Heterotopic ossification: Pathophysiology, clinical features, and the role of radiotherapy for prophylaxis

    SciTech Connect

    Balboni, Tracy A. [Harvard Radiation Oncology Program, Brigham and Women's Hospital, Boston, MA (United States); Gobezie, Reuben [Department of Orthopedic Surgery, Brigham and Women's Hospital, Boston, MA (United States); Mamon, Harvey J. [Department of Radiation Oncology, Brigham and Women's Hospital, Boston, MA (United States)]. E-mail: hmamon@partners.org

    2006-08-01

    Heterotopic ossification (HO) is a benign condition of abnormal formation of bone in soft tissue. HO is frequently asymptomatic, though when it is more severe it typically manifests as decreased range of motion at a nearby joint. HO has been recognized to occur in three distinct contexts-trauma, neurologic injury, and genetic abnormalities. The etiology of HO is incompletely understood. A posited theory is that HO results from the presence of osteoprogenitor cells pathologically induced by an imbalance in local or systemic factors. Individuals at high risk for HO development frequently undergo prophylaxis to prevent HO formation. The two most commonly employed modalities for prophylaxis are nonsteroidal anti-inflammatory drugs and radiation therapy. This review discusses HO pathophysiology, clinical features, and the role of radiotherapy for prophylaxis.

  6. Aeromonas spp. and Traveler’s Diarrhea: Clinical Features and Antimicrobial Resistance

    PubMed Central

    Ruiz, Joaquin; Gallardo, Francisco; Vargas, Martha; Soler, Lara; Figueras, Maria José; Gascon, Joaquin

    2003-01-01

    Traveler’s diarrhea is the most common health problem of international travelers. We determined the prevalence of Aeromonas spp. associated with traveler’s diarrhea and analyzed the geographic distribution, clinical features, and antimicrobial susceptibility. Aeromonas spp. were isolated as a cause of traveler’s diarrhea in 18 (2%) of 863 patients. A. veronii biotype sobria was isolated in nine patients, A. caviae in seven patients, and A. jandai and A. hydrophila in one patient each. Aeromonas spp. were isolated with a similar prevalence in Africa, Latin America, and Asia. Watery and persistent diarrhea, fever, and abdominal cramps were common complaints. All strains were resistant to ampicillin; showed variable resistance to chloramphenicol, tetracycline, and cotrimoxazole; and were susceptible to cefotaxime, ciprofloxacin, and nalidixic acid. The persistence of symptoms made antimicrobial treatment necessary. PMID:12737738

  7. Clinical features and genetic analysis of three patients with severe hypertriglyceridaemia.

    PubMed

    Hooper, Amanda J; Kurtkoti, Jagadeesh; Hamilton-Craig, Ian; Burnett, John R

    2014-07-01

    Hypertriglyceridaemia is a common biochemical abnormality that can be due to primary causes or, more commonly, secondary causes. Moderate hypertriglyceridaemia is a risk factor for cardiovascular disease and can develop into severe hypertriglyceridaemia which is a risk factor for acute pancreatitis. Familial chylomicronaemia is a rare autosomal recessive disorder, usually diagnosed in childhood and is characterized by marked hypertriglyceridaemia and biochemical deficiency of lipoprotein lipase (LPL), apolipoprotein (apo) C-II, homozygous (or compound heterozygous) gene mutations in LPL or more rarely, APOC2. Recently, loss-of-function mutations in the APOA5 gene have been reported in patients with severe hypertriglyceridaemia in whom LPL or APOC2 mutations were not found. We describe the clinical features and genetic analysis of three patients with severe hypertriglyceridaemia including novel mutations LPL c.464T>C (p.Leu155Pro) and APOA5 c.823C>T (p.Gln275*). PMID:24591733

  8. [Clinical features in a Japanese patient with autosomal dominant lateral temporal epilepsy having LGI1 mutation].

    PubMed

    Fujita, Youshi; Ikeda, Akio; Kadono, Kentaro; Kawamata, Jun; Tomimoto, Hidekazu; Fukuyama, Hidenao; Takahashi, Ryosuke

    2009-04-01

    We described a clinical feature of autosomal dominant lateral temporal epilepsy (ADLTE) in a Japanese patient having LGI1 mutation. The patient was a 27-year-old woman who had her first seizure at the age of 10 years, a nocturnal generalized seizure. She then had partial seizures manifesting auditory symptoms with or without anxiety, panic attack, déjà vu, sensory aphasia and visual symptoms. Repeated EEGs were normal. Brain MRI showed small left superior temporal gyrus. 18F-deoxyglucose positron emission tomography (PDG-PET) demonstrated glucose hypometabolism in the left lateral temporal lobe. Sequencing of the LGI1 revealed a single base substitution in exon 8 (1642C-->T) causing missense mutation at residue 473 of the LGI1 protein (S473 L). When one demonstrates ictal symptoms arising from the lateral temporal to occipital area with psychotic symptoms, ADLTE should be suspected and a detailed family history is warranted. PMID:19462817

  9. Genetic counselling in X-linked ocular albinism: clinical features of the carrier state.

    PubMed

    Charles, S J; Moore, A T; Grant, J W; Yates, J R

    1992-01-01

    Forty-nine obligate heterozygotes and 64 at risk females were assessed from 17 families affected by X-linked ocular albinism to determine the relative values of clinical examination and skin biopsy in carrier detection. 92% of obligate heterozygotes had a mud-splattered appearance of the fundus with hyperpigmented streaks and in 74% this was associated with marked iris translucency. Skin histology showed macromelanosomes in 84%. 27 of 64 (42%) at risk females had definite features of the carrier state and 19 (30%) were unequivocally normal but a further 18 (28%) had mild RPE abnormalities, often with iris transillumination defects, of uncertain significance. Fundus examination will detect most carrier females but will not allow reliable genetic counselling for all at risk females, even when supplemented by skin biopsy. PMID:1426406

  10. Foreign Body Granulomas after the Use of Dermal Fillers: Pathophysiology, Clinical Appearance, Histologic Features, and Treatment

    PubMed Central

    Lee, Jeong Min

    2015-01-01

    A foreign body granuloma is a non-allergic chronic inflammatory reaction that is mainly composed of multinucleated giant cells. Foreign body granulomas may occur after the administration of any dermal filler. Factors such as the volume of the injection, impurities present in the fillers, and the physical properties of fillers affect granuloma formation. The formation of granulomas involves five phases: protein adsorption, macrophage adhesion, macrophage fusion, and crosstalk. The clinical and pathologic features of granulomas vary depending on the type of filler that causes them. Foreign body granulomas can be treated effectively with intralesional corticosteroid injections. Surgical excisions of granulomas tend to be incomplete because granulomas have ill-defined borders and moreover, surgical excisions may leave scars and deformities.

  11. Detection of Merkel cell polyomavirus DNA in atypical fibroxanthoma in correlation to clinical features.

    PubMed

    Andres, C; Puchta, U; Flaig, M J

    2010-12-01

    A clear etiopathogenetic concept for atypical fibroxanthoma (AFX) is not established yet. Nevertheless, AFX is known as a pleomorphic but indolent tumor primarily of the elderly and/or immunosuppressed patient occurring in severely sun- or radiation-damaged skin. These risk factors are almost identical to those of Merkel cell carcinoma (MCC), a highly malignant skin tumor being thought to be pathogenetically associated with the recently discovered Merkel cell polyomavirus (MCPyV). Because AFX and MCC share risk factors, the aim of this study was to evaluate presence of MCPyV DNA in 23 cases of AFX by PCR and direct DNA sequencing. Subsequently, we correlated clinical features with MCPyV DNA status in AFX. We detected MCPyV DNA in 4 of 23 AFX. All patients with MCPyV DNA-positive tumors were men. The mean age of patients with MCPyV DNA-positive AFX was 84.8 ± 8.7 years (vs. 75.2 ± 7.8 years of MCPyV DNA-negative AFX), the mean duration of tumor growth was 4.5 ± 2.3 months (vs. 5.1 ± 2.8 months) and the mean tumor diameter was 1.2 ± 0.3 cm (vs. 1.3 ± 0.7 cm). Ulceration was present in 75% of MCPyV DNA-positive tumors (vs. 65.2%). In conclusion, MCPyV DNA is present in 17% of AFX, in this cohort affecting predominantly male patients with higher age (>80 years). Clinical features seem to be independent of MCPyV DNA status. Although the role of MCPyV is unclear in this setting, it may act as a cofactor in the tumorigenesis of AFX in a subset of cases. PMID:20861707

  12. Inflammatory fibroid polyps of the gastrointestinal tract: spectrum of clinical, morphologic, and immunohistochemistry features.

    PubMed

    Liu, Ta-Chiang; Lin, Ming-Tseh; Montgomery, Elizabeth A; Singhi, Aatur D

    2013-04-01

    Inflammatory fibroid polyps (IFPs) are rare, benign tumors that can arise throughout the gastrointestinal tract. Although the molecular pathogenesis of these lesions has been well characterized, their morphologic features often vary. We report the clinicopathologic findings of the largest series of IFPs to date. A total of 83 IFPs seen at our institution were collected between 1999 and 2012. The specimens included 64 biopsies and 19 resections. A review of the clinical features identified a modest female predominance (47 women and 36 men) with patients ranging in age from 26 to 87 years (mean, 60 y). Involved sites included the esophagus (n=2), stomach (n=31; mainly antrum), small intestines (n=17), appendix (n=1), large intestines (n=31; majority within the rectosigmoid), and anal canal (n=1). Although most patients had a nonspecific presentation, those with small intestinal lesions frequently presented with intussusception. Grossly, the tumors ranged in size from 0.2 to 4.2 cm (mean, 1.7 cm). Histologically, IFPs were centered within the submucosa in all resection specimens, but mucosal extension was found in 74 of 83 (89%) cases. The tumors varied in both cellularity and degree of vascularity. However, the characteristic feature of perivascular onion skinning was present in only 54% (45/83) of the cases. In addition, a short fascicular growth pattern was also noted in 36% (30 of 83) of cases, whereas both features were present in 14 cases (17%). Eosinophils were present in 94% (78 of 83) of cases but varied widely in number from abundant (20/hpf) to sparse (1/hpf). Interestingly, in those cases with sparse eosinophils, prominent hyalinization was also present (11 of 78, 13%). In addition, although the majority of IFPs expressed CD34, 6 of 44 (14%) were negative. No associated dysplasia or malignancy was seen. IFPs represent a diverse set of submucosal-based lesions that commonly extend into the mucosa, making them amenable to endoscopic biopsy. Although their classic histologic features of perivascular onion skinning and predominance of eosinophils are well described, they may alternatively present with a short fascicular growth pattern, a sparse number of eosinophils, and prominent hyalinization. PMID:23426127

  13. 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

  14. 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

  15. Clinically important features of porphyrin and heme metabolism and the porphyrias.

    PubMed

    Besur, Siddesh; Hou, Wehong; 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

  16. Clinical features in patients with chronic muscle pain--with special reference to fibromyalgia.

    PubMed

    Jacobsen, S; Petersen, I S; Danneskiold-Samsøe, B

    1993-01-01

    Clinical characteristics were studied in patients with chronic muscle pain, divided into three groups according to the characteristics of their pain; "fibromyalgia" (n = 23), "widespread muscle pain" (n = 21), and "regional muscle pain" (n = 28). Typical fibromyalgia features were also seen in the other groups of patients, but not to the same extent. In particular, sleep disturbance, subjective swelling, cold and exercise intolerance and low self-reported physical performance were significantly related to fibromyalgia. The major components of fibromyalgia were not wholly different compared with other European and North American studies, except for sleep disturbance and subjective swelling, which was somewhat more pronounced in this study. The most used medications in fibromyalgia patients at referral were analgesics, anxiolytic drugs and female sex hormones. Medication in fibromyalgia was not excessive and seemed appropriate compared to the other patient groups. Effects of various biases and classification criteria on the results of fibromyalgia studies are discussed. The characteristic features of fibromyalgia, its stability when diagnosed and the promotion of research and patient management justify the current classification of fibromyalgia at this stage. PMID:8480141

  17. 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.

  18. Infections caused by carbapenemase-producing Enterobacteriaceae: risk factors, clinical features and prognosis.

    PubMed

    Paño Pardo, José Ramón; Serrano Villar, Sergio; Ramos Ramos, Juan Carlos; Pintado, Vicente

    2014-12-01

    Infections caused by carbapenem-producing Enterobacteriaceae (CPE) can present as several infectious syndromes, but they primarily present as respiratory, urinary and blood stream infections (primary or catheter-related) that are usually found as nosocomial or healthcare-associated infections. The risk of CPE infection is influenced by individual factors, such as the length of the hospital stay and their exposure to invasive procedures and/or to antimicrobials. Of note, exposure to several antimicrobials, not only carbapenems, has been linked to CPE colonization; the duration of antibiotic exposure is one of the primary drivers of CPE acquisition. Individual risk factors must be considered jointly with the local epidemiology of these microorganisms in healthcare institutions. Overall, these infections have a high associated mortality. Mortality is influenced by host factors (e.g., age, comorbidity and immune deficiency), infection-related variables (e.g., type and severity of the infection) and treatment-related factors such as the delay in the initiation of appropriate antimicrobial therapy and the use or monotherapy or combined antimicrobial therapy. Gaining knowledge concerning the epidemiology, clinical features and prognostic features of CPE infection could be useful for improving infection prevention and for the management of patients with infections caused by these microorganisms. PMID:25542051

  19. Infantile hepatic hemangiomas. Clinical features, radiologic investigations, and treatment of 20 patients

    SciTech Connect

    Stanley, P.; Geer, G.D.; Miller, J.H.; Gilsanz, V.; Landing, B.H.; Boechat, I.M. (Childrens Hospital of Los Angeles, CA (USA))

    1989-08-15

    The clinical features, radiologic investigation, and treatment of 20 infants with hepatic hemangiomas are presented. Palpable abdominal mass (n = 18) and cardiac failure (n = 11) were the common presenting features. Nine patients had hyperconsumptive coagulopathy. Seven patients had other hemangiomas. Ultrasound (n = 15) showed the number and distribution of the hemangiomas within the liver. Hypoechoic and hyperechoic elements were present in addition to prominent vascular channels and diminished caliber of the distal aorta. Radionuclide sulfur colloid (n = 12) and labeled red blood cell (n = 7) studies showed the distribution and vascularity of the hemangiomas. Computed tomography (n = 8) revealed central hypointensity with marked peripheral enhancement after contrast. Arteriography now performed only as a prelude to therapeutic embolization demonstrated hypervascularity in each patient, contrast pooling in six and early draining veins in five. Magnetic resonance scanning (n = 3) showed decreased signal intensity on T1 images and high intensity signal on T2. In two patients, there was resolution or improvement of the hemangiomas without therapy. Four patients had surgery (lobectomy (2), trisegmentectomy (1), and surgical evacuation of a central hematoma (1)). Steroids and radiation were given to seven patients, and one patient also required therapeutic embolization. Steroids were the initial therapy in five patients, one of whom later required therapeutic embolization and another cyclophosphamide. Two patients were treated initially with radiation therapy, one of whom also needed emergency hepatic artery ligation. Seventeen of the 20 patients are alive and well from 6 months to 14 years after diagnosis.

  20. Heterogeneity of autoantibodies in 100 patients with autoimmune myositis: insights into clinical features and outcomes

    PubMed Central

    Koenig, Martial; Fritzler, Marvin J; Targoff, Ira N; Troyanov, Yves; Senécal, Jean-Luc

    2007-01-01

    The objective of this study was to determine the prevalence, mutual associations, clinical manifestations, and diagnoses associated with serum autoantibodies, as detected using recently available immunoassays, in patients with autoimmune myositis (AIM). Sera and clinical data were collected from 100 patients with AIM followed longitudinally. Sera were screened cross-sectionally for 21 autoantibodies by multiplex addressable laser bead immunoassay, line blot immunoassay, immunoprecipitation of in vitro translated recombinant protein, protein A assisted immunoprecipitation, and enzyme-linked immunosorbent assay. Diagnoses were determined using the Bohan and Peter classification as well as recently proposed classifications. Relationships between autoantibodies and clinical manifestations were analyzed by multiple logistic regression. One or more autoantibodies encompassing 19 specificities were present in 80% of the patients. The most common autoantibodies were anti-Ro52 (30% of patients), anti-Ku (23%), anti-synthetases (22%), anti-U1RNP (15%), and anti-fibrillarin (14%). In the presence of autoantibodies to Ku, synthetases, U1RNP, fibrillarin, PM-Scl, or scleroderma autoantigens, at least one more autoantibody was detected in the majority of sera and at least two more autoantibodies in over one-third of sera. The largest number of concurrent autoantibodies was six autoantibodies. Overall, 44 distinct combinations of autoantibodies were counted. Most autoantibodies were unrestricted to any AIM diagnostic category. Distinct clinical syndromes and therapeutic responses were associated with anti-Jo-1, anti-fibrillarin, anti-U1RNP, anti-Ro, anti-Ro52, and autoantibodies to scleroderma autoantigens. We conclude that a significant proportion of AIM patients are characterized by complex associations of autoantibodies. Certain myositis autoantibodies are markers for distinct overlap syndromes and predict therapeutic outcomes. The ultimate clinical features, disease course, and response to therapy in a given AIM patient may be linked to the particular set of associated autoantibodies. These results provide a rationale for patient profiling and its application to therapeutics, because it cannot be assumed that the B-cell response is the same even in the majority of patients in a given diagnostic category. PMID:17688695

  1. Unusual manifestations of craniofacial fibrous dysplasia: clinical, endocrinological and computed tomographic features.

    PubMed Central

    Daly, B. D.; Chow, C. C.; Cockram, C. S.

    1994-01-01

    Clinical, endocrinological and computed tomographic features of three patients with unusual manifestations or complications of craniofacial involvement of fibrous dysplasia are presented. One patient with polyostotic fibrous dysplasia presented in late pregnancy with acute onset of bilateral optic nerve compression and blindness secondary to a rapidly expanding mass of fibrous dysplasia tissue involving the sphenoid, pituitary and optic chiasm regions. A second patient with polyostotic fibrous dysplasia developed thyrotoxicosis and probable gigantism/acromegaly in keeping with a rare form of McCune-Albright syndrome. Extensive bony distortion of the skull and facial bones by fibrous dysplasia made clinical recognition of these complications more difficult. A third patient had monostotic fibrous dysplasia with marked sclerosis of the sphenoid bone on plain radiographs which mimicked appearances of a meningioma and resulted in a negative craniotomy as computed tomography was not yet available at the time of presentation. Each case demonstrated rare complications of craniofacial fibrous dysplasia and highlighted the wide spectrum of appearances in which it may manifest, often resulting in overlap and diagnostic confusion with other disease processes. The value of computed tomography in assessment is emphasized. Images Figure 1 Figure 2 Figure 3 Figure 4 Figure 5 Figure 6 Figure 7 PMID:8140010

  2. CLINICAL FEATURES, CURRENT TREATMENTS AND OUTCOME OF PREGNANT WOMEN WITH PREECLAMPSAIA/ECLAMPSIA IN NORTHERN AFGHANISTAN

    PubMed Central

    AHADI, SAYED SHIR MOHAMMAD; YOSHIDA, YOSHITOKU; RABI, MIRWAIS; SARKER, MOHAMMAD ABUL BASHAR; REYER, JOSHUA A.; HAMAJIMA, NOBUYUKI

    2015-01-01

    ABSTRACT In Afghanistan, preeclampsia/eclampsia is the second leading cause of maternal deaths following maternal hemorrhage. This study aimed to describe clinical features, current treatments, and outcome among preeclampsia and eclampsia patients in the north region of Afghanistan. This was a retrospective study based on medical records of four center hospitals (one regional hospital and three provincial hospitals) in the north region of Afghanistan. Subjects were 322 patients with preeclampsia/eclampsia, admitted from March 2012 to March 2013. Out of 322 cases, 72.7% were diagnosed as preeclampsia and the rest as eclampsia. Those aged 30–39 years were 41.0% among preeclampsia patients and 29 years and younger were 35.2% among eclampsia patients (p= 0.002). The first delivery was significantly higher (p=0.045) among eclampsia patients (51.1%) than among preeclampsia patients (36.8%). While none died among the preeclampsia patients, 12 out of 88 eclampsia patients died in the hospitals. The causes of the 12 deaths were pulmonary edema (6 patients), renal failure (3 patients), cerebrovascular attack (2 patients), and hemorrhage (1 patient). There were no clinical findings at admission significantly associated with the deaths within the eclampsia patient group. Although the sample size was not large enough, patients admitted to the regional/provincial hospitals at the stage of preeclampsia had a low risk of death. Access at the stage of preeclampsia and improvement in treatments for eclampsia would reduce maternal mortality in Afghanistan. PMID:25797975

  3. 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

  4. 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

  5. Rabies: the clinical features, management and prevention of the classic zoonosis.

    PubMed

    Warrell, Mary J; Warrell, David A

    2015-02-01

    The diagnosis of rabies encephalitis relies on awareness of the varied clinical features and eliciting a history of unusual contact with a mammal throughout the endemic area. The diagnosis is easily missed. Laboratory tests are not routine and only confirm clinical suspicion. Rabies infection carries a case fatality exceeding 99.9%. Palliation is appropriate, except for previously-vaccinated patients or those infected by American bats, for whom intensive care is probably indicated. However, as rabies vaccines are outstandingly effective, no one should die of dog-transmitted infection. Vaccines and rabies immunoglobulin are expensive and usually scarce in Asia and Africa. All travellers to dog rabies enzootic areas should be strongly encouraged to have pre-exposure immunisation before departure. There is no contraindication to vaccination but the cost can be prohibitive. Intradermal immunisation, using 0.1 ml and sharing vials of vaccine, is cheaper and is now permitted by UK regulations. Returning travellers may need post-exposure prophylaxis. Economical intradermal post-exposure vaccination is practicable and should be introduced into rural areas of Africa and Asia immediately. Eliminating rabies in dogs is now feasible and would dramatically reduce human mortality, if funds were made available. The high current economic burden of human prophylaxis would then be largely relieved. PMID:25650205

  6. Clinical features of delirious mania: a series of five cases and a brief literature review

    PubMed Central

    2012-01-01

    Background Little is known about the cause and psychopathology of delirious mania, a type of disorder where delirium and mania occur at the same time. This condition still has no formal diagnostic classification. To provide more information about this potentially life-threatening condition, we studied five patients with delirious mania. Methods We describe the cases of five patients with delirious mania admitted to an acute inpatient psychiatric unit between January 2005 and January 2007, and discuss the cases in the context of a selective review of the clinical literature describing the clinical features and treatment of delirious mania. Results Two patients had two episodes of delirious mania. Delirium usually resolved faster than mania though not always the case. Delirious mania remitted within seven sessions of the electroconvulsive therapy (ECT). Conclusions Delirious mania is a potentially life-threatening but under-recognized neuropsychiatric syndrome. Delirious mania that is ineffectively treated may induce a new-onset manic episode or worsen an ongoing manic episode, and the patient will need prolonged hospitalization. Delirious mania also has a close relationship with catatonia. Early recognition and aggressive treatment, especially with electroconvulsive therapy, can significantly reduce morbidity and mortality. PMID:22716018

  7. Vitamin B12 in Obese Adolescents with Clinical Features of Insulin Resistance

    PubMed Central

    Ho, Mandy; Halim, Jocelyn H.; Gow, Megan L.; El-Haddad, Nouhad; Marzulli, Teresa; Baur, Louise A.; Cowell, Chris T.; Garnett, Sarah P.

    2014-01-01

    Emerging evidence indicates an association between obesity, metformin use and reduced vitamin B12 status, which can have serious hematologic, neurologic and psychiatric consequences. This study aimed to examine B12 status in obese adolescents with pre-diabetes and/or clinical features of insulin resistance. Serum B12 was measured using chemiluminescence immunoassay in 103 (43 male, 60 female) obese (mean body mass index (BMI) z-score ± SD (2.36 ± 0.29)), adolescents aged 10 to 17 years, median (range) insulin sensitivity index of 1.27 (0.27 to 3.38) and 13.6% had pre-diabetes. Low B12 (<148 pmol/L) was identified in eight (7.8%) and borderline status (148 to 221 pmol/L) in an additional 25 (24.3%) adolescents. Adolescents with borderline B12 concentrations had higher BMI z-scores compared to those with normal concentrations (2.50 ± 0.22 vs. 2.32 ± 0.30, p = 0.008) or those with low B12 concentration (2.50 ± 0.22 vs. 2.27 ± 0.226, p = 0.041). In conclusion, nearly a third of obese adolescents with clinical insulin resistance had a low or borderline serum B12 status. Therefore, further investigations are warranted to explore the cause and the impact of low B12 status in obese pediatric populations. PMID:25486369

  8. The clinical and morphologic features of nonepidermolytic ichthyosis in the golden retriever.

    PubMed

    Mauldin, E A; Credille, K M; Dunstan, R W; Casal, M L

    2008-03-01

    A scaling disorder specific to Golden Retriever dogs has been recognized by both dermatologists and pathologists, but to date has not been well characterized. At the University of Pennsylvania's Laboratory of Toxicology and Pathology, 46 cases of ichthyosis were diagnosed histologically in Golden Retriever dogs from January 2004 to January 2007. A total of 22 dogs had skin lesions documented at younger than 1 year of age; 3 dogs between 1 and 2 years of age; 13 dogs developed lesions at older than 2 years; and the time of onset was unknown for 8 dogs. A total of 25 dogs were female, and 21 were male. All dogs had strikingly similar histopathologic changes that consisted of mild to moderate laminar orthokeratotic hyperkeratosis with an absence of epidermal hyperplasia and dermal inflammation. Ultrastructural analysis using a ruthenium tetroxide fixation method was performed on punch biopsy samples from 5 dogs and compared with 2 control dogs (1 clinically and histologically normal sibling of an affected dog and 1 Cairn Terrier). All affected dogs had retained and convoluted membranes with crystalline structures in the stratum corneum. Scattered keratinocytes in the granular cell layer had prominent, clear, membrane-bound, cytoplasmic vacuoles. Pedigree analysis of 14 dogs was compatible with autosomal recessive inheritance, but incomplete dominance could not be ruled out. This unique hyperkeratotic/scaling disorder in Golden Retrievers has distinctive clinical, histologic, and ultrastructural features, which are consistent with a primary cornification defect. PMID:18424829

  9. Late presentation of hyperandrogenism in pregnancy: clinical features and differential diagnosis

    PubMed Central

    Das, Gautam; Eligar, Vinay S; Govindan, Jyothish; Rees, D Aled

    2013-01-01

    Summary Background Hyperandrogenic states in pregnancy are rare but arise most commonly due to new-onset ovarian pathology in pregnancy. We describe the case of a young woman who presented in the latter half of her pregnancy with features of hyperandrogenism. We review the biochemical and imaging findings and discuss the differential diagnosis. Case presentation A 26-year-old woman presented in the later part of her pregnancy with widespread hirsutism. Biochemical testing confirmed hyperandrogenism (testosterone, 13.7?nmol/l and second-trimester pregnancy range, 0.9–4.9?nmol/l), although she had no history of menstrual disturbance, hirsutism or acne prior to conception. Radiological evaluation (ultrasound and magnetic resonance imaging) revealed multiple cystic lesions in both ovaries, leading to a presumptive diagnosis of hyperreactio luteinalis (HL). The implications of maternal hyperandrogenism on foetal virilisation were considered and the patient was counselled appropriately. She delivered a healthy baby boy uneventfully. Androgen levels, hirsutism and acne normalised within a few weeks of delivery. Conclusion HL can occur at any stage of pregnancy and is an important differential diagnosis in pregnant patients with features of androgen excess. Most cases regress spontaneously after delivery and major interventions are usually not needed. Learning points Hyperandrogenism in pregnancy is rare.Clinical features are similar to the non-pregnant state in the mother but virilisation in the foetus can have profound consequences.HL and pregnancy luteoma are the most common ovarian pathologies leading to hyperandrogenism in pregnancy.Spontaneous regression occurs in the post-partum period in the vast majority of cases and surgery is only required for local complications. PMID:24616776

  10. Ultrasonographic features and clinical implications of benign palpable breast lesions in young women

    PubMed Central

    Comstock, Christopher

    2015-01-01

    Purpose: The purpose of this study was to describe the breast ultrasonography (US) features and to investigate whether performing a core biopsy is warranted in young women having palpable solid breast masses. Methods: A total of 76 solid palpable masses in 68 consecutive women (?25 years old) underwent tissue diagnosis by percutaneous core biopsy. Two radiologists, who were blinded to the clinical history and histopathology, independently evaluated the US features according to Breast Imaging-Reporting and Data System (BI-RADS) lexicon. The frequency of benign and malignant descriptor terms that were used to characterize the lesions were compared to the final pathology. Results: All 76 palpable solid masses yielded benign pathology. On the US, the shape of the mass was described by radiologists 1 and 2 as oval or round (63.2% and 71.1%), margin as circumscribed (68.4% and 77.6%) and orientation as parallel (85.5% and 90.8%); the frequency of using all three benign descriptors was 61.8% and 68.5%, respectively. Suspicious descriptors were used less frequently by radiologists 1 and 2 including irregular shape (9.2% and 13.1%), non-circumscribed margin (31.6% and 22.4%) and non-parallel orientation (14.5% and 9.2%); the frequency of using all three suspicious descriptors was 9.2% and 11.8%, respectively. Conclusion: Despite the variable US features, breast malignancy seems extremely low in 25 years or younger women for palpable breast lesions. Using the BI-RADS lexicon, US accurately predicted benignity in about two thirds of our patients, supporting US surveillance as a safe alternative to invasive tissue sampling in this setting. PMID:25475650

  11. Clinical Features of Coxsackievirus A4, B3 and B4 Infections in Children

    PubMed Central

    Lee, Chia-Jie; Huang, Yhu-Chering; Yang, Shuan; Tsao, Kuo-Chien; Chen, Chih-Jung; Hsieh, Yu-Chia; Chiu, Cheng-Hsun; Lin, Tzou-Yien

    2014-01-01

    Background Clinical features of coxsackievirus A4 (CA4), B3 (CB3) and B4 (CB4) infections in children have not been comprehensively described. Methods/Principal Findings From January 2004 to June 2012, a total of 386 children with culture-proven CA4, CB3 and CB4 infections treated at Chang Gung Memorial Hospital, including 296 inpatients (CA4, 103; CB3, 131; CB4, 62) and 90 outpatients (CA4, 55; CB3, 14; CB4, 21), were included. From outpatients, only demographics were extracted and from inpatients, detailed clinical and laboratory data were collected retrospectively. The mean age was 32.1±30.2 months; male to female ratio was 1.3?1. Children with CB3 infection were youngest (76.6% <3 years of age), and had a highest hospitalization rate (90.3%) and a longest duration of hospitalization (mean ± SD, 7.5±6.2 days). Herpangina (74.8%) was the most common presentation for children with CA4 infection, aseptic meningitis (26.7%) and young infant with fever (23.7%) for those with CB3 infection, and herpangina (32.3%) and tonsillitis/pharyngitis (27.4%) for children with CB4 infection. Almost all the inpatients had fever (97.6%). Twelve out of thirteen (92.3%) children with complications and ten of 11 children with long-term sequelae had CB3 infections. Two fatal cases were noted, one due to myocarditis with CA4 infection and CB3 were detected from the other case which had hepatic necrosis with coagulopathy. The remaining 285 children (96.3%) recovered uneventfully. Conclusion CA4, CB3 and CB4 infections in children had different clinical disease spectrums and involved different age groups. Though rare, severe diseases may occur, particularly caused by CB3. PMID:24504149

  12. Clinical Features of Severe Wasp Sting Patients with Dominantly Toxic Reaction: Analysis of 1091 Cases

    PubMed Central

    Ding, Fengfei; Xie, Minjie; Lv, Jiagao; Yao, Jihua; Pan, Dengji; Sun, Qian; Liu, Chenchen; Chen, Tie; Li, Shusheng; Wang, Wei

    2013-01-01

    Background Massive wasp stings have been greatly underestimated and have not been systematically studied. The aim of this study was to identify the clinical features and treatment strategies of severe wasp stings. Methods and Findings A multicenter retrospective study was undertaken in 35 hospitals and medical centers including 12 tertiary care hospitals and 23 secondary care hospitals in the Hubei Province, China. The detailed clinical data of 1091 hospitalized wasp sting patients were investigated. Over three-fourths (76.9%) of the cases had 10 or more stings and the in-hospital mortality of patients was 5.1%. Forty-eight patients died of organ injury following toxic reactions to the stings, whereas six died from anaphylactic shock. The in-hospital mortality in patients with >10 stings was higher than that of ?10 stings (5.2% vs. 1.0%, p?=?0.02). Acute kidney injury (AKI) was seen in 21.0% patients and most patients required blood purification therapy. Rhabdomyolysis was seen in 24.1% patients, hemolysis in 19.2% patients, liver injury in 30.1% patients, and coagulopathy in 22.5% patients. Regression analysis revealed that high creatinine level, shock, oliguria, and anemia were risk factors for death. Blood purification therapy was beneficial for patients with ?20 stings and delayed hospital admission of patients (?4 hours after sting). Conclusions In China, most patients with multiple wasp stings presented with toxic reactions and multiple organ dysfunction caused by the venom rather than an anaphylactic reaction. AKI is the prominent clinical manifestation of wasp stings with toxic reaction. High creatinine levels, shock, oliguria, and anemia were risk factors for death. PMID:24391743

  13. Clinical and Serological Features of Patients with Autoantibodies to GW/P Bodies

    PubMed Central

    Bhanji, Rahima A.; Eystathioy, Theophany; Chan, Edward K.L.; Bloch, Donald B.; Fritzler, Marvin J.

    2007-01-01

    GW bodies (GWBs) are unique cytoplasmic structures involved in messenger RNA (mRNA) processing and RNA interference (RNAi). GWBs contain, mRNA, components of the RNA-induced silencing complex (RISC), microRNA (miRNA), Argonaute proteins (i.e. Ago2), the Ge-1/Hedls protein and other enzymes involving mRNA degradation. The objective of this study was to identify the target GWB autoantigens reactive with 55 sera from patients with anti-GWB autoantibodies and to identify clinical features associated with these antibodies. Analysis by addressable laser bead immunoassay (ALBIA) and immunoprecipitation of recombinant proteins indicated that autoantibodies in this cohort of anti-GWB sera were directed against Ge-1/Hedls (58%), GW182 (40%) and Ago2 (9%). GWB autoantibodies targeted epitopes that included the N-terminus of Ago2 and the nuclear localization signal (NLS) containing region of Ge-1/Hedls. Clinical data was available on 42 patients of which 39 were female and the mean age was 61 years. The most common clinical presentations were neurological symptoms (i.e. ataxia, motor and sensory neuropathy) (33%), Sjögren’s syndrome (SjS) (31%) and the remainder had a variety of other diagnoses that included systemic lupus erythematosus (SLE), rheumatoid arthritis (RA) and primary biliary cirrhosis (PBC). Moreover, 44% of patients with anti-GWB antibodies had reactivity to Ro52. These studies indicate that Ge-1 is a common target of anti-GWB sera and the majority of patients in a GWB cohort had SjS and neurological disease. PMID:17870671

  14. 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

  15. Nutcracker esophagus: demographic, clinical features, and esophageal tests in 115 patients.

    PubMed

    Lufrano, R; Heckman, M G; Diehl, N; DeVault, K R; Achem, S R

    2015-01-01

    Nutcracker esophagus (NE) is a common esophageal motility disorder chacterized by high amplitude peristaltic contractions in the distal esophagus. While previous studies have examined selected aspects of this condition (e.g. pathogenesis and treatment), there is a paucity of data regarding demographic and clinical features in large cohorts of patients. The aim of this study was to describe demographics, clinical features, comorbidities, time to diagnosis, source of patient referral by specialty, and medication use in a large cohort of patients with NE. We retrospectively analyzed consecutive cases of NE diagnosed from 2008-2010. The electronic medical records of these patients were reviewed, and relevant information was extracted. We identified 115 patients with NE. The median age was 62 years (range 25-87 years), and 63% were female. The median time patients experienced symptoms prior to diagnosis was 24 months (0-480 months). Most patients presented to an internal medicine consultant (42%) or to a gastroenterologist (35%). Presenting symptoms were chest pain (31%) and dysphagia (21%). Gastroesophageal reflux disease (GERD) symptoms were common: heartburn occurred in 51% of patients, 77% had a prior history of GERD, and 78% were receiving acid suppressive medications. GERD was confirmed by testing in at least 35%. Psychiatric comorbidity occurred in 24% with half the patients receiving psychotropic medications. Irritable bowel syndrome (IBS) and fibromyalgia co-existed in 15% and 12% of patients, respectively. Surprisingly, opioids were prescribed to 26% of patients. No statistically significant correlation was found between esophageal motility parameters and symptoms. In this study, NE patients were more commonly middle-aged females experiencing a considerable amount of time between symptom onset and diagnosis. Many were initially evaluated by internists for dysphagia or chest pain and had a history of GERD. Medication prescribed prior to diagnoses frequently involved acid suppression, but narcotic and psychotropic prescriptions were also commonly used. Central sensitization syndromes (fibromyalgia and IBS), psychiatric comorbidity, and reflux commonly coexisted. Our study suggests that future investigations should address the role and interaction of GERD and psychiatric disorders in NE. PMID:24251375

  16. Genetic and Clinical Features of Progranulin-Associated Frontotemporal Lobar Degeneration

    PubMed Central

    Chen-Plotkin, Alice S.; Martinez-Lage, Maria; Sleiman, Patrick M. A.; Hu, William; Greene, Robert; Wood, Elisabeth McCarty; Bing, Shaoxu; Grossman, Murray; Schellenberg, Gerard D.; Hatanpaa, Kimmo J.; Weiner, Myron F.; White, Charles L.; Brooks, William S.; Halliday, Glenda M.; Kril, Jillian J.; Gearing, Marla; Beach, Thomas G.; Graff-Radford, Neill R.; Dickson, Dennis W.; Rademakers, Rosa; Boeve, Bradley F.; Pickering-Brown, Stuart M.; Snowden, Julie; van Swieten, John C.; Heutink, Peter; Seelaar, Harro; Murrell, Jill R.; Ghetti, Bernardino; Spina, Salvatore; Grafman, Jordan; Kaye, Jeffrey A.; Woltjer, Randall L.; Mesulam, Marsel; Bigio, Eileen; Lladó, Albert; Miller, Bruce L.; Alzualde, Ainhoa; Moreno, Fermin; Rohrer, Jonathan D.; Mackenzie, Ian R. A.; Feldman, Howard H.; Hamilton, Ronald L.; Cruts, Marc; Engelborghs, Sebastiaan; De Deyn, Peter P.; Van Broeckhoven, Christine; Bird, Thomas D.; Cairns, Nigel J.; Goate, Allison; Frosch, Matthew P.; Riederer, Peter F.; Bogdanovic, Nenad; Lee, Virginia M. Y.; Trojanowski, John Q.; Van Deerlin, Vivianna M.

    2011-01-01

    Objective To assess the relative frequency of unique mutations and their associated characteristics in 97 individuals with mutations in progranulin (GRN), an important cause of frontotemporal lobar degeneration (FTLD). Participants and Design A 46-site International Frontotemporal Lobar Degeneration Collaboration was formed to collect cases of FTLD with TAR DNA-binding protein of 43-kDa (TDP-43)–positive inclusions (FTLD-TDP). We identified 97 individuals with FTLD-TDP with pathogenic GRN mutations (GRN+ FTLD-TDP), assessed their genetic and clinical characteristics, and compared them with 453 patients with FTLD-TDP in which GRN mutations were excluded (GRN? FTLD-TDP). No patients were known to be related. Neuropathologic characteristics were confirmed as FTLD-TDP in 79 of the 97 GRN+ FTLDTDP cases and all of the GRN? FTLD-TDP cases. Results Age at onset of FTLD was younger in patients with GRN+ FTLD-TDP vs GRN? FTLD-TDP (median, 58.0 vs 61.0 years; P<.001), as was age at death (median, 65.5 vs 69.0 years; P<.001). Concomitant motor neuron disease was much less common in GRN+ FTLDTDP vs GRN? FTLD-TDP (5.4% vs 26.3%; P<.001). Fifty different GRN mutations were observed, including 2 novel mutations: c.139delG (p.D47TfsX7) and c.378C>A (p.C126X). The 2 most common GRN mutations were c.1477C>T (p.R493X, found in 18 patients, representing 18.6% of GRN cases) and c.26C>A (p.A9D, found in 6 patients, representing 6.2% of cases). Patients with the c.1477C>T mutation shared a haplotype on chromosome 17; clinically, they resembled patients with other GRN mutations. Patients with the c.26C>A mutation appeared to have a younger age at onset of FTLD and at death and more parkinsonian features than those with other GRN mutations. Conclusion GRN+ FTLD-TDP differs in key features from GRN? FTLD-TDP. PMID:21482928

  17. The high frequency and clinical feature of seronegative myasthenia gravis in Southern China.

    PubMed

    Feng, Hui-Yu; Wang, Hai-Yan; Liu, Wei-Bin; He, Xue-Tao; Huang, Xin; Luo, Chuan-Ming; Li, Yan

    2013-06-01

    Anti-acetylcholine receptor antibodies (anti-AChR-Ab) are responsible for the failure of neuromuscular junction in myasthenia gravis (MG). Some anti-AChR-Ab-seronegative MG patients have anti-muscle-specific tyrosine kinase antibodies (anti-MuSk-Ab). Here, the anti-AChR-Ab was tested in 250 MG outpatients from Southern China. While anti-MuSk-Ab was tested in 66 patients who had no anti-AChR-Ab in blood serum, but none of them was positive. The antibodies were measured by a radioimmunoprecipitation assay. The frequency of anti-AChR-Ab was 51.2 %. The percentage of anti-AChR-Ab in ocular type was lower than generalized type (44.9 vs. 66.2 %, P = 0.002). Seronegative MG was characterized by a lower percentage of thymoma than seropositive patients (P = 0.013). It seemed to be less severe in seronegative MG than seropositive MG in these 250 patients. In ocular type, seronegative MG mainly manifesting blepharoptosis but seldom diplopia or eyeball fixation related to ocular movement disability (P = 0.016). While in generalized type, seronegative MG was characterized by a lower percentage of bulbar muscle involvements than seropositive patients (P = 0.005). Logistic regression analysis revealed that bulbar weakness was affected by the existence of anti-AChR antibodies (OR = 3.524, P = 0.015). Besides, seronegative MG tended to be characterized by a lower percentage of neck extensor involvement, but this did not reach significance. The percentage of anti-AChR antibodies was much lower than other countries. Seronegative MG has characteristic clinical features that are different from features of the remaining seropositive MG. This emphasises the predictive value of anti-AChR antibodies analysis in MG patients. PMID:22829131

  18. Oxidative Stress and Erythrocyte Membrane Alterations in Children with Autism: Correlation with Clinical Features

    PubMed Central

    Visconti, Paola; Bolotta, Alessandra; Ferreri, Carla; Gobbi, Giuseppe; Malisardi, Gemma; Manfredini, Stefano; Marini, Marina; Nanetti, Laura; Pipitone, Emanuela; Raffaelli, Francesca; Resca, Federica; Mazzanti, Laura

    2013-01-01

    It has been suggested that oxidative stress may play a role in the pathogenesis of Autism Spectrum Disorders (ASD), but the literature reports somewhat contradictory results. To further investigate the issue, we evaluated a high number of peripheral oxidative stress parameters, and some related issues such as erythrocyte membrane functional features and lipid composition. Twenty-one autistic children (Au) aged 5 to 12 years, were gender and age-matched with 20 typically developing children (TD). Erythrocyte thiobarbituric acid reactive substances, urinary isoprostane and hexanoyl-lysine adduct levels were elevated in Au, thus confirming the occurrence of an imbalance of the redox status of Au, whilst other oxidative stress markers or associated parameters (urinary 8-oxo-dG, plasma radical absorbance capacity and carbonyl groups, erythrocyte superoxide dismutase and catalase activities) were unchanged. A very significant reduction of Na+/K+-ATPase activity (?66%, p<0.0001), a reduction of erythrocyte membrane fluidity and alteration in erythrocyte fatty acid membrane profile (increase in monounsaturated fatty acids, decrease in EPA and DHA-?3 with a consequent increase in ?6/?3 ratio) were found in Au compared to TD, without change in membrane sialic acid content. Some Au clinical features appear to be correlated with these findings; in particular, hyperactivity score appears to be related with some parameters of the lipidomic profile and membrane fluidity. Oxidative stress and erythrocyte membrane alterations may play a role in the pathogenesis of ASD and prompt the development of palliative therapeutic protocols. Moreover, the marked decrease in NKA could be potentially utilized as a peripheral biomarker of ASD. PMID:23840462

  19. Epidemiology and Clinical Features of Atopic Dermatitis in Kerman, a Desert Area of Iran

    PubMed Central

    Esfandiarpour, Iraj; Sedaghatmanesh, Maryam; Saviz, Mahdieh

    2014-01-01

    Background Epidemiologic studies of atopic dermatitis (AD) in desert areas are still lacking. Objective The aim of this study was to investigate the epidemiology of AD in children in Kerman city, a desert area in Iran. Methods We evaluated preschool children (age, 2 to 7 years) and primary school students (age, greater than 7 up to 12 years) in Kerman. We selected 865 students to estimate the prevalence and assess other features of AD such as distribution of lesions, personal history, family history of atopy, aggravating factors, associated symptoms, and morphological variants. Results The prevalence of AD was 9.1% in our study population. The prevalence of AD was 9.17% and 9.09% in males and females, respectively. The prevalence of AD in the age range of 2 to 7 years was 13.53% and 8.33% among children aged greater than 7 up to 12 years. In total, 82.27% of the patients were in chronic stage of the disease, and 31.6% had a personal history of other atopic diseases. At least one first-degree family member with atopy was seen in 46.83% of the patients. The most common sites of involvement were the head and neck. The most involved areas in the limbs were extensor surfaces. The most frequent morphological variant of AD was the common type. Conclusion The prevalence of AD in Kerman was higher than in other Iranian cities but lower than that in developed countries. Diversity in the clinical features of AD has been observed among different studies, and the diagnostic criteria of AD should be adapted in proportion to the studied area. PMID:24648683

  20. Correlation of HOXD3 promoter hypermethylation with clinical and pathologic features in screening prostate biopsies

    PubMed Central

    Chen, Leonard N; Rubin, Rachel S; Othepa, Eugide; Cer, Caroline; Yun, Elizabeth; Agarwal, Raghunath P; Collins, Brian T; McGeagh, Kevin; Pahira, John; Bandi, Guarav; Kowalczyk, Keith; Kumar, Deepak; Dritschilo, Anatoly; Collins, Sean P; Bostwick, David G; Lynch, John H; Suy, Simeng

    2014-01-01

    BACKGROUND Molecular markers that can discriminate indolent cancers from aggressive ones may improve the management of prostate cancer and minimize unnecessary treatment. Aberrant DNA methylation is a common epigenetic event in cancers and HOXD3 promoter hypermethylation (H3PH) has been found in prostate cancer. Our objective was to evaluate the relationship between H3PH and clinicopathologic features in screening prostate biopsies. METHODS Ninety-two patients who underwent a prostate biopsy at our institution between October 2011 and May 2012 were included in this study. The core with the greatest percentage of the highest grade disease was analyzed for H3PH by methylation-specific PCR. Correlational analysis was used to analyze the relationship between H3PH and various clinical parameters. Chi-square analysis was used to compare H3PH status between benign and malignant disease. RESULTS Of the 80 biopsies with HOXD3 methylation status assessable, 66 sets were confirmed to have cancer. In the 14 biopsies with benign disease there was minimal H3PH with the mean percentage of methylation reference (PMR) of 0.7%. In contrast, the HOXD3 promoter was hypermethylated in 16.7% of all cancers and in 50% of high risk tumors with an average PMR of 4.3% (P?=?0.008). H3PH was significantly correlated with age (P?=?0.013), Gleason score (P?=?0.031) and the maximum involvement of the biopsy core (P?=?0.035). CONCLUSIONS H3PH is associated with clinicopathologic features. The data indicate that H3PH is more common in older higher risk patients. More research is needed to determine the role of this marker in optimizing management strategies in men with newly diagnosed prostate cancer. Prostate 74:714–721, 2014. © 2014 The Authors. The Prostate published by Wiley Periodicals, Inc. PMID:24847526

  1. The epidemiology and clinical features of paraffin (kerosene) poisoning in rural African children.

    PubMed

    Reed, R P; Conradie, F M

    1997-03-01

    One hundred and eleven children under 5 years of age admitted with a diagnosis of paraffin ingestion, constituting 9.1% of total ward admissions in this age group, were studied prospectively. The majority were between 13 and 36 months old. One-fifth of the children were in the care of another child at the same time of ingestion. Fourteen families had a past history of paraffin ingestion. Only 22% of households normally stored in paraffin above ground level and in only 15% of cases was paraffin stored in a container specified for that purpose. Emesis was attempted using home remedies in 72% of cases and was associated with a significant increase in vomiting. Vomiting had an impact on the exacerbation of the clinical features of paraffin poisoning, particularly fever. Clinical criteria laid down for suspected superadded bacterial lung infection resulted in half of the study group having blood cultures performed on day 1 and another 17 on day 4. Only two yielded isolates which possibly could have been indicative of bacteremia secondary to infective pneumonia. No child in the suspected group was treated with antibiotics and all recovered uneventfully. Admission chest X-rays contributed little to the management of the illness. Paraffin ingestion remains a serious contributor to child morbidity in rural South Africa and there appears to be room for further preventive education at community level. Specific measures could include storage of paraffin in designated containers above ground level and emphasis on adult supervision of children. Superadded bacterial pneumonia is uncommon and antibiotics in the management of suspected cases are not routinely indicated. PMID:9176578

  2. Clinical features of acute viral hepatitis B in Korea: a multi-center study

    PubMed Central

    Choi, Hye Jin; Choe, Won Hyeok; Seo, Yeon Seok; Kim, Ji Hoon; Byun, Kwan Soo; Kim, Young Seok; Kim, Seung Up; Baik, Soon Koo; Cheong, Jae Youn; Kim, Tae Yeob; Kwon, Oh Sang; Kim, Jeong Han; Lee, Chang Hong; Kwon, So Young

    2011-01-01

    Background/Aims The incidence of Hepatitis B has significantly declined since the introduction of an HBV vaccination program. The aim of this study was to investigate recent clinical features of acute viral hepatitis B (AVH-B) in Korea. Methods A total of 2241 patients with acute viral hepatitis were enrolled and their data were collected from nine medical-centers between January 2006 and December 2009. Results One hundred nineteen (5.3%) of the 2241 were diagnosed as AVH-B. Among 78 patients with AVH-B whose data were analyzed, 50 were male, and the mean age was 38.6 years. In an initial test, mean AST, ALT and total-bilirubin levels were 1296.2 IU/L, 2109.6 IU/L and 9.3 mg/dl, respectively. Positivity frequencies for HBeAg and anti-HBe were 55.1% and 67.9%, respectively, and the mean HBV DNA level was 5.2 log10 copies/ml. The mean length of hospitalization was 11.6 days. During follow-up, AST, ALT and total bilirubin levels were normalized or near-normalized in all patients without serious complications. Sixty-three of 66 (95.4%) patients showed HBsAg loss and 37 (56.1%) patients showed HBsAg seroconversion. Only 3 patients (4.5%) showed persistent hepatitis B viremia. There was no case of death or liver transplantation. Nine patients (11.3%) had received anti-viral agents and their clinical outcomes were not significantly different from those of patients treated without antiviral agents. Conclusions The prevalence of AVH-B among acute hepatitis patients is relatively low in Korea. AVH-B infection can be cured without complications in almost all patients, regardless of antiviral treatment. PMID:22310795

  3. 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

  4. Clinical Features and Treatment Outcome of Chordoid Meningiomas in a Single Institute

    PubMed Central

    Jee, Tae Keun; Jo, Kyung-Il; Seol, Ho Jun; Kong, Doo-Sik; Lee, Jung-Il

    2014-01-01

    Objective Meningioma is the second most common primary central nervous system neoplasm. In contrast, chordoid meningioma is rare; due to the paucity of cases, little is known about its clinical features or treatment outcomes. The objectives of this study were to describe the clinical characteristics and outcomes for patients with chordoid meningioma. Methods In total, 16 patients, with newly diagnosed chordoid meningioma who underwent surgical excision between 1999 and 2012 were included. We retrospectively evaluated the medical records, radiological findings, and pathological findings. The median follow-up period was 56.5 (range, 3-170) months. The MIB-1 labeling index ranged from 1 to 26.60% (median, 5.04). Results Simpson grade I, II, and III resections were performed in four, nine, and three patients, respectively. The overall recurrence rate was 37.5%. Overall progression-free survival (PFS) after resection was 94.7 months (95% CI=62.9-126.6). Of the 4 patients with Simpson grade I resection, recurrence occurred in one patient. Among the Simpson grade II and III resection groups, eight patients underwent adjuvant radiation therapy and they showed significantly longer PFS (121 months, 95% CI=82.1-159.9) than the patients who underwent surgery alone (40.5 months, 95% CI=9.6-71.3) by the log-rank test (p<0.05). Conclusion Chordoid meningiomas are difficult to manage and have a high rate of recurrence. Complete resection of the tumor is a key determinant of better outcomes. Adjuvant radiation therapy is recommended, eparticulary when Simpson grade I resection was not achieved. PMID:25368760

  5. Pulmonary Artery Angiosarcoma Confused with Acute Pulmonary Thromboembolism: Focusing on Clinical and Echocardiographic Features in the Differentiation of Two Categories

    PubMed Central

    Kim, Mi Joo; Kim, Min Su; Park, Kwang-In; Lee, Choong-Sik; Na, Myung Hoon; Lee, Jae-Hwan; Choi, Si Wan; Jeong, Jin-Ok; Seong, In-Whan

    2015-01-01

    Although pulmonary artery angiosarcoma is rare, it can be misdiagnosed as pulmonary embolism because of its similar clinical and diagnostic features. The diagnosis is often delayed and the misdiagnosis brings unnecessary treatment. Because we made a wrong diagnosis of pulmonary artery angiosarcoma as an acute pulmonary embolism, we did thrombolytic therapy which could be dangerous to the patient. In this case report, we focused on the clinical and echocardiographic features of pulmonary artery angiosarcoma which can be used in differentiating the diagnosis from pulmonary embolism.

  6. Small Deletions of SATB2 Cause Some of the Clinical Features of the 2q33.1 Microdeletion Syndrome

    PubMed Central

    Rosenfeld, Jill A.; Ballif, Blake C.; Lucas, Ann; Spence, Edward J.; Powell, Cynthia; Aylsworth, Arthur S.; Torchia, Beth A.; Shaffer, Lisa G.

    2009-01-01

    Recurrent deletions of 2q32q33 have recently been reported as a new microdeletion syndrome. Clinical features of this syndrome include severe mental retardation, growth retardation, dysmorphic features, thin and sparse hair, feeding difficulties and cleft or high palate. The commonly deleted region contains at least seven genes. Haploinsufficiency of one of these genes, SATB2, a DNA-binding protein that regulates gene expression, has been implicated as causative in the cleft or high palate of individuals with 2q32q33 microdeletion syndrome. In this study we describe three individuals with smaller microdeletions of this region, within 2q33.1. The deletions ranged in size from 173.1 kb to 185.2 kb and spanned part of SATB2. Review of clinical records showed similar clinical features among these individuals, including severe developmental delay and tooth abnormalities. Two of the individuals had behavioral problems. Only one of the subjects presented here had a cleft palate, suggesting reduced penetrance for this feature. Our results suggest that deletion of SATB2 is responsible for several of the clinical features associated with 2q32q33 microdeletion syndrome. PMID:19668335

  7. 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

  8. Intraductal papillary-mucinous tumors of the pancreas: Clinicopathologic features, outcome, and nomenclature. Members of the Pancreas Clinic, and Pancreatic Surgeons of Mayo Clinic

    Microsoft Academic Search

    EV Loftus; BA Olivares-Pakzad; KP Batts; MC Adkins; DH Stephens; MG Sarr; EP DiMagno

    1996-01-01

    BACKGROUND & AIMS: Intraductal papillary-mucinous tumor (IPMT) of the pancreatic ducts is increasingly recognized. This study investigated if clinical, imaging, or, histological features predicated outcome, formulated a treatment algorithm, and clarified relationships among IPMT, mucinous cystic neoplasms of the pancreas (MCN), and chronic pancreatitis. METHODS: The medical records, radiographs, and pathological specimens of 15 patients with IPMT (dilated main pancreatic

  9. HLA-Cw6Positive and HLA-Cw6Negative Patients with Psoriasis Vulgaris have Distinct Clinical Features

    Microsoft Academic Search

    Jóhann E Guðjónsson; Ari Kárason; Arna A. Antonsdottir; E. Hjaltey Runarsdottir; Jeffrey R. Gulcher; Kári Stefánsson; Helgi Valdimarsson

    2002-01-01

    Psoriasis is associated with HLA-Cw6, and Caucasians who carry this allele have about a 10-fold increased risk of developing psoriasis. We have HLA-C typed 369 patients with familial psoriasis and compared the clinical features of the patients carrying HLA-Cw6 against those carrying other HLA-C types. Some striking clinical differences were observed between the two groups. Patients who are Cw6 positive

  10. Clinical and electroencephalographic features in patients with CDKL5 mutations: Two new Italian cases and review of the literature

    Microsoft Academic Search

    Maria Pintaudi; Maria Giuseppina Baglietto; Roberto Gaggero; Elena Parodi; Alice Pessagno; Margherita Marchi; Silvia Russo; Edvige Veneselli

    2008-01-01

    Clinical features and electroencephalographic findings of two patients affected by a previously unreported cyclin-dependent kinase-like 5 (CDKL5) gene mutation are described. Both patients had the Hanefeld variant phenotype with early-onset seizures, but different degrees of clinical severity. In fact, patient 1 was not drug-resistant and is responding to a single drug. On the contrary, patient 2, like most reported cases,

  11. [Clinical features and costs of rotavirus gastroenteritis in infants: community versus nosocomialy acquired infection].

    PubMed

    Delpiano M, Luis; Riquelme R, Joel; Casado F, M Cristina; Alvarez H, Ximena

    2006-03-01

    This is a prospective 12 month (July 2003-June 2004) cohort study in one large tertiary hospital of Santiago, Chile aimed to describe clinic features and calculate the direct costs of hospitalization associated to community-acquired (n = 78) and nosocomially-acquired (n = 52) rotavirus infection. A gastroenteritis severity score after Rennels 1996, (0 to 17 points) was applied and costs where calculated based on those assigned by the Chilean National Funds for Health (FONASA). Severe gastroenteritis manifested by a score > 14 occurred in 26.9% and 9.6% of community and nosocomially-acquired cases respectively (p < 0.015). The former had lower bicarbonate levels (p < 0.001), and required more volume expansion compared to the latter (p < 0.023). The average cost was US 277 per case for community acquired rotavirus and US 268 for nosocomial infection. In this hospital the cost of nosocomial rotavirus infection was approximately 13,900 US dollars for a 12 month period. These results should stimulate the implementation of active prevention and control programs. PMID:16462961

  12. [Thyrotoxic hypokalemic periodic paralysis, an endocrine emergency: clinical and genetic features in 25 patients].

    PubMed

    Silva, Magnus R Dias da; Chiamolera, Maria Izabel; Kasamatsu, Teresa S; Cerutti, Janete M; Maciel, Rui M B

    2004-02-01

    Thyrotoxic hypokalemic periodic paralysis (THPP) is a medical emergency characterized by acute attacks of weakness, hypokalemia, and thyrotoxicosis that resolve with the treatment of hyperthyroidism. Attacks are transient, self-limited, associated with hypokalemia and resemble those of familial hypokalemic periodic paralysis (FHPP), an autosomal dominant neurological channelopathy. This study reviews the clinical features and genetic findings of THPP in 25 Brazilian patients. Most patients had weight loss, taquicardia, goiter, tremor, and ophthalmopathy. Most often attacks arose during the night and recovered spontaneously but some patients evolved to total quadriplegia, and few experienced cardiac arrhythmias. All patients had suppressed TSH and elevated T4 and most had positive anti-thyroid antibodies, indicating autoimmunity thyrotoxic etiology. Potassium was low in all patients during the crisis. Prophylactic potassium therapy has not been shown to prevent attacks; however it was useful for curbing the paralysis during the crisis. We identified the mutation R83H in the KCNE3 gene in one sporadic case, and M58V in the KCNE4 gene in one case with family history. Furthermore, we identified other genetic polymorphisms in the CACNA1S, SCN4A, KCNE1, KCNE2, KCNE1L, KCNJ2, KCNJ8 e KCNJ11 genes. We conclude that THPP is the most common treatable cause of acquired periodic paralysis; therefore, it must be included in the differential diagnosis of acute muscle weakness. PMID:15611833

  13. Primary infantile hyperparathyroidism: clinical, laboratory, and radiographic features in 21 cases

    SciTech Connect

    Eftekhari, F.; Yousefzadeh, D.K.

    1982-06-01

    Two cases of primary infantile hyperparathyroidism (PIH) are reported. In both cases the diagnosis was initially suspected from chest radiographs which were obtained to assess the etiology of fever and respiratory distress in one case and heart murmur in another. The first case responded well to subtotal parathyroidectomy. The second case had many unique features. (1) She never became overtly symptomatic. (2) She displayed a constellation of findings that are not yet emphasized. (3) Her indisputable radiographic findings of hyperparathyroidism vanished spontaneously by two months of age, whereas her biochemical alterations have persisted up to now, 2 1/2 years after birth. (4) Three members of her family have subclinical hyperparathyroidism (elevated serum parathormone, hypercalcemia, and hypophosphatemia). Our review of 19 more cases showed that PIH has no specific clinical symptoms and/or signs. Of the laboratory findings, hypercalcemia was most consistantly encountered. The radiographic findings, although not identical to those described in hyperparathyroid adults, had the greatest diagnostic specificity. The disorder carried a grave prognosis if not diagnosed promptly and managed surgically.

  14. Epidemiological, clinical and laboratory features of brucellosis: a prospective evaluation of 120 adult patients.

    PubMed

    Namiduru, M; Gungor, K; Dikensoy, O; Baydar, I; Ekinci, E; Karaoglan, I; Bekir, N A

    2003-01-01

    This prospective study was carried out in the department of infectious diseases of Gaziantep University between January 1997 and December 1999 to evaluate the epidemiological, clinical and laboratory features of brucellosis in south-eastern Turkey. One hundred and twenty consecutive patients with active brucellosis were enrolled. The commonest way of transmission was ingestion of milk products from diseased animals. Brucella melitensis was isolated in the specimens of 31 (45.5%) of 68 patients. The commonest abnormalities on physical examination were fever (66.6%), hepatomegaly (63.3%) and splenomegaly (56.6%). Osteoarticular involvement was found in 34 patients (28.3%). Fifteen (12.5%) patients had ocular involvement. Hepatitis, orchiepididymitis, pulmonary involvement and meningitis were found in one (0.8%), four (6.8%), three (2.5%) and one (0.8) patient, respectively. The commonest haematological abnormalities were relative lymphomonocytosis (71.6%) and anaemia (36.6%). In conclusion, brucellosis continues to be a common health problem in communities where the consumption of unpasteurised dairy products is common. Since prevention is as important as early diagnosis in reducing the morbidity of brucellosis, we suggest that improving current health policies with additional educational programmes is essential. PMID:12587937

  15. Clinical and imaging features of intracranial arterial aneurysms in the pediatric population.

    PubMed

    Aeron, Gunjan; Abruzzo, Todd A; Jones, Blaise V

    2012-01-01

    Intracranial arterial aneurysms (IAAs) are rare in children. Nevertheless, IAAs account for at least 10%-15% of hemorrhagic strokes during the first 2 decades of life. Traditional vascular risk factors, which are common in the adult population, are generally absent in the pediatric population, engendering distinct modes of IAA pathogenesis. Classification of pediatric IAAs according to the pathogenetic mechanism shows eight distinct categories: idiopathic, traumatic, those due to excessive hemodynamic stress, vasculopathic, infectious, noninfectious inflammatory, oncotic, and familial. Pathogenetic mechanism is the best predictor of the clinical course of the disease, response to treatment, and long-term prognosis. The pathogenetic subtypes of pediatric IAA show characteristic and variably overlapping features. In most cases, IAAs manifesting during the first 2 decades of life are idiopathic. IAAs that are idiopathic, traumatic (second most common type), or due to excessive hemodynamic stresses (third most common type) account for more than 80% of IAAs in the pediatric age group. Most of the remaining pediatric IAAs are the result of congenital cerebral aneurysmal arteriopathies or infection. Multiple IAAs are unusual in young children except in those with acquired (secondary to immune deficiency states) or congenital cerebral aneurysmal arteriopathies or infectious IAAs. PMID:22582353

  16. Systematic review of clinical features of suspected prostate cancer in primary care

    PubMed Central

    Young, Sheila-Mae; Bansal, Praveen; Vella, Emily T.; Finelli, Antonio; Levitt, Cheryl; Loblaw, Andrew

    2015-01-01

    Abstract Objective To systematically review the literature and provide an update and integration of existing peer-reviewed guidelines with recent systematic reviews and with primary studies related to the early recognition and management of prostate cancer in primary care. Data sources We searched MEDLINE and EMBASE for relevant articles. The quality of the evidence to support existing guideline recommendations and the consistency of recommendations with updated evidence were assessed. Applicability in a Canadian primary care setting was also evaluated. Study selection All studies conducted in the primary care setting that provided information on clinical features predictive of prostate cancer were included. Also, studies that assessed the accuracy of nomograms to predict prostate cancer were reviewed. Synthesis The findings suggest that lower urinary tract symptoms are not highly predictive of prostate cancer. However, evidence suggests that FPs might be good at discriminating between patients with and without prostate cancer using digital rectal examination and prostate-specific antigen testing. Nomograms might also be useful in assessing patients for aggressive prostate cancers. Conclusion The results of this review can be used to inform recommendations for referral for suspected prostate cancer in the primary care setting. They could also inform development of prostate cancer diagnostic assessment programs.

  17. Correlation between CAG repeat length and clinical features in Machado-Joseph disease

    SciTech Connect

    Maciel, P.; Gaspar, C.; Silveira, I. [Montreal General Hospital Research Institute (Canada)] [and others

    1995-07-01

    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. 37 refs., 6 figs.

  18. 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

  19. Clinical and morphologic features of acute, subacute and chronic cor pulmonale (pulmonary heart disease).

    PubMed

    Roberts, William Clifford; Shafii, Alexis E; Grayburn, Paul A; Ko, Jong Mi; Weissenborn, Matthew R; Rosenblatt, Randall L; Guileyardo, Joseph M

    2015-03-01

    Described are certain clinical and morphologic features of one patient with acute, another with subacute, and one with chronic cor pulmonale. All 3 had evidence of severe pulmonary hypertension. The patient with acute cor pulmonale 4 days after coronary bypass for unstable angina pectoris suddenly developed severe breathlessness with cyanosis and had fatal cardiac arrest and necropsy disclosed massive pulmonary embolism. The patient with subacute cor pulmonale had severe right-sided heart failure for 5 weeks and necropsy disclosed microscopic-sized neoplastic pulmonary emboli from a gastric carcinoma without parenchymal pulmonary metastases. The patient with chronic cor pulmonale had evidence of right-sided heart failure for years, the result of primary or idiopathic pulmonary hypertension almost certainly present from birth because the pattern of elastic fibers in the pulmonary trunk was that seen in newborns where the pressure in the pulmonary trunk and ascending aorta are similar. The patient with chronic cor pulmonale had plexiform pulmonary lesions indicative of irreversible pulmonary hypertension. Neither the acute nor the subacute patient had chronic pulmonary vascular changes. All 3 patients had dilated right ventricular cavities and non-dilated left ventricular cavities and only the patient with chronic cor pulmonale had right ventricular hypertrophy. PMID:25727086

  20. Hemizygosity at the elastin locus and clinical features of Williams syndrome

    SciTech Connect

    Morimoto, Y; Kuwano, A. [Ehime Univ. School of Medicine (Japan); Kuwajima, K. [Ibaraki Perfectural Handicap Children`s Hopsital (Japan)] [and others

    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.

  1. 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

  2. Electrocortical features of depression and their clinical utility in assessing antidepressant treatment outcome.

    PubMed

    Jaworska, Natalia; Protzner, Andrea

    2013-09-01

    Major depressive disorder (MDD) is primarily characterized by decreased affect and accompanying behavioural consequences, but it is also associated with cognitive dysfunction. Assessment of electroencephalographic (EEG) activity and associated event-related potentials (ERPs; derived from averaged EEG activity in response to a stimulus) in the context of MDD has provided insights into the electrocortical abnormalities associated with the disorder. Importantly, EEG and ERPs also have emerged as candidates for predicting and optimizing antidepressant (AD) treatment outcome. This is critical in light of relatively low remission rates or a limited response to initial AD interventions. In contrast to other neuroimaging approaches, EEG and ERPs may be superior for predicting and monitoring AD response, as electrocortical measures are relatively inexpensive, easy to use, and have excellent temporal (that is, millisecond) resolution, enabling fine-grained assessment of basic cognitive and emotive processes. This review aims to highlight the most consistently noted EEG and ERP features in MDD, which may one day assist with diagnostic confirmation, as well as the potential clinical utility of specific electrocortical measures in aiding with response prediction. PMID:24099498

  3. Clinical features, outcomes and treatment-related pneumonitis in elderly patients with esophageal carcinoma

    PubMed Central

    He, Jian; Zeng, Zhao-Chong; Shi, Shi-Ming; Yang, Ping

    2014-01-01

    AIM: To investigate the clinical features and prognoses of elderly patients with esophageal carcinoma and to compare the effects of radiotherapy and rates of treatment-related pneumonitis (TRP) between elderly and non-elderly patients. METHODS: A total of 236 patients with esophageal carcinoma who received radiotherapy between 2002 and 2012 were enrolled. The patients were divided into two groups: an elderly group (age ? 65 years) and a non-elderly group (age < 65 years). The tumor position and stage, lymph node and distant metastases, and incidence and severity of TRP were compared. Multivariate analysis was applied to identify independent prognostic factors. RESULTS: The median overall survival times after radiotherapy in the elderly and non-elderly groups were 18.5 and 20.5 mo, respectively. Cox regression analysis showed that TRP grade and tumor-node-metastasis (TNM) stage were independent prognostic factors in the elderly group. High-dose radiotherapy (> 60 Gy) was associated with a high incidence of TRP. Tumor TNM staging was significantly different between the two groups in which TRP occurred. Multivariate analysis showed that TNM stage was an independent prognostic factor. Esophageal carcinoma in elderly patients was relatively less malignant compared with that in non-elderly patients. CONCLUSION: An appropriate dose should be used to decrease the incidence of TRP in radiotherapy, and intensity modulated radiation therapy should be selected if possible. PMID:25278715

  4. White dot syndromes: a 20-year study of incidence, clinical features and outcomes

    PubMed Central

    Abu-Yaghi, Nakhleh E.; Hartono, Stella P.; Hodge, David O.; Pulido, Jose S.; Bakri, Sophie J.

    2012-01-01

    Purpose To measure the incidence of white dot syndromes (WDS) in a community-based population and to report clinical features and outcomes. Methods Multi-center retrospective study using the Rochester Epidemiology Project medical records linkage system of Olmsted County, Minnesota. Databases were searched to identify all patients with WDS from January 1, 1988 through December 31, 2008. Results Mean ophthalmic follow-up was 4.5 years and mean general medical follow-up was 9.1 years. The incidence of WDS was 0.45 per 100,000 per year (95% CI 0.19 - 0.71). Incidence rates for specific disease entities were also calculated. We report some associated autoimmune diseases in our series. Multiple evanescent white dot syndrome (MEWDS) was more common in females and acute posterior multifocal placoid pigment epitheliopathy (APMPPE) was more common in males. Both MEWDS and APMPPE generally carried a good visual prognosis. Fifty percent of cases with APMPPE in our series had a positive history of psoriasis. The only punctuate inner choroidopathy (PIC) case carried that diagnosis as well. Conclusions WDS are rare diseases, and may be associated with other autoimmune diseases. Further studies with more patients and longer follow up periods are needed to draw conclusions about visual prognosis, development of other ocular conditions and associated medical diseases. PMID:22106911

  5. Historic, clinical, and prognostic features of epileptic encephalopathies caused by CDKL5 mutations.

    PubMed

    Moseley, Brian D; Dhamija, Radhika; Wirrell, Elaine C; Nickels, Katherine C

    2012-02-01

    Mutations within the X-linked cyclin-dependent kinase-like 5 (CDKL5) gene are important causes of early-onset epileptic encephalopathies. We sought to determine the historic, clinical, and prognostic features of epilepsy secondary to CDKL5 mutations. We performed retrospective chart reviews of children at our institution with epilepsy and CDKL5 mutations. Six children were identified. One manifested a deletion in exons 10-15 of the CDKL5 gene, another manifested a single base-pair duplication in exon 3, and the rest manifested base-pair exchanges. The mean age of seizure onset was 1.8 months (range, 1-3 months). Although the majority (4/6, 67%) presented with partial-onset seizures, all children developed infantile spasms. All children demonstrated developmental delay and visual impairment. Although such mutations are X-linked, two children were boys. They did not present with more severe phenotypes than their female counterparts. Despite trials of antiepileptic drugs (mean, 5; range, 3-7), steroids/adrenocorticotropic hormone (4/6; 67%), and the ketogenic diet (6/6; 100%), all children manifested refractory seizures at last follow-up. Although no treatment eliminated seizures, topiramate, vigabatrin, and the ketogenic diet were most helpful at reducing seizure frequency. PMID:22264704

  6. The Population Genetic Structure of the Malaria Mosquito Anopheles melas Throughout Its West-African Range

    E-print Network

    Deitz, Kevin

    2012-02-14

    Its West-African Range. (December 2011) Kevin Canning Deitz, B.S., State University of New York Chair of Advisory Committee: Dr. Michel A. Slotman Anopheles melas is a brackish water mosquito found along the coast of West- Africa where it can... like to thank my advisor and committee chair Dr. Michel A. Slotman for his support and guidance throughout the course of this research project, and my committee members Dr. J. Spencer Johnston, Dr. Konstantin V. Krutovksy, and Dr. Raul F. Medina...

  7. Main clinical features in patients at their first psychiatric admission to Italian acute hospital psychiatric wards. The PERSEO study

    Microsoft Academic Search

    Andrea Ballerini; Roberto M Boccalon; Giancarlo Boncompagni; Massimo Casacchia; Francesco Margari; Lina Minervini; Roberto Righi; Federico Russo; Andrea Salteri; Sonia Frediani; Andrea Rossi; Marco Scatigna

    2007-01-01

    BACKGROUND: Few data are available on subjects presenting to acute wards for the first time with psychotic symptoms. The aims of this paper are (i) to describe the epidemiological and clinical characteristics of patients at their first psychiatric admission (FPA), including socio-demographic features, risk factors, life habits, modalities of onset, psychiatric diagnoses and treatments before admission; (ii) to assess the

  8. Clinical Features: Hereditary Motor and Sensory Neuropathy with Agenesis of the Corpus Callosum (HMSN/ACC) [OMIM #218000

    E-print Network

    Ober, Carole

    1/13 Clinical Features: Hereditary Motor and Sensory Neuropathy with Agenesis of the Corpus sensorimotor neuropathy resulting in hypotonia, areflexia and amyotrophy, variable degrees of dysgenesis Neuropathy with Agenesis of the Corpus Callosum #12;1/13 Prenatal testing for a known mutation Sample

  9. Clinical Features: Charcot Marie Tooth Disease is a group of inherited neuropathies characterized by chronic motor and sensory

    E-print Network

    Ober, Carole

    6/11 Clinical Features: Charcot Marie Tooth Disease is a group of inherited neuropathies characterized by chronic motor and sensory neuropathy resulting in progressive distal muscle weakness.smeyers@ua.ac.be The Hereditary Neuropathy Foundation 1751 2nd Ave Suite 103 New York NY 10128 Phone: 877-463-1287; 212

  10. Clinical Features: Charcot Marie Tooth Disease is a group of inherited neuropathies characterized by chronic motor and sensory

    E-print Network

    Ober, Carole

    1/13 Clinical Features: Charcot Marie Tooth Disease is a group of inherited neuropathies characterized by chronic motor and sensory neuropathy resulting in progressive distal muscle weakness.smeyers@ua.ac.be The Hereditary Neuropathy Foundation 1751 2nd Ave Suite 103 New York NY 10128 Phone: 877-463-1287; 212

  11. Clinical Features: Charcot Marie Tooth Disease is a group of inherited neuropathies characterized by chronic motor and sensory

    E-print Network

    Gilad, Yoav

    10/08 Clinical Features: Charcot Marie Tooth Disease is a group of inherited neuropathies characterized by chronic motor and sensory neuropathy resulting in progressive distal muscle weakness.smeyers@ua.ac.be The Hereditary Neuropathy Foundation 1751 2nd Ave Suite 103 New York NY 10128 Phone: 877-463-1287; 212

  12. Clinical Features: Prader-Willi syndrome (PWS) [OMIM #176270] is a genetic disorder which causes hypotonia and poor feeding in

    E-print Network

    Ober, Carole

    1/13 Clinical Features: Prader-Willi syndrome (PWS) [OMIM #176270] is a genetic disorder which, and a characteristic facial appearance consisting of a thin upper- lip, down-turned mouth, dental crowding, and almond to 25% [2]. Additional Resources: Prader-Willi Syndrome Association 5700 Midnight Pass Road, Suite 6

  13. Clinical Features: Prader-Willi syndrome (PWS) [OMIM #176270] is a genetic disorder which causes hypotonia and poor feeding in

    E-print Network

    Das, Soma

    1/13 Clinical Features: Prader-Willi syndrome (PWS) [OMIM #176270] is a genetic disorder which, and a characteristic facial appearance consisting of a thin upper- lip, down-turned mouth, dental crowding, and almond to 25% (2). Additional Resources: Prader-Willi Syndrome Association 5700 Midnight Pass Road, Suite 6

  14. Clinical Features: Prader-Willi syndrome (PWS) [OMIM #176270] is a genetic disorder which causes hypotonia and poor feeding in

    E-print Network

    Gilad, Yoav

    6/11 Clinical Features: Prader-Willi syndrome (PWS) [OMIM #176270] is a genetic disorder which, and a characteristic facial appearance consisting of a thin upper- lip, down-turned mouth, dental crowding, and almond to 25% [2]. Additional Resources: Prader-Willi Syndrome Association 5700 Midnight Pass Road, Suite 6

  15. Clinical Features: Prader-Willi syndrome (PWS) [OMIM #176270] is a genetic disorder which causes hypotonia and poor feeding in

    E-print Network

    Das, Soma

    3/10 Clinical Features: Prader-Willi syndrome (PWS) [OMIM #176270] is a genetic disorder which, and a characteristic facial appearance consisting of a thin upper- lip, down-turned mouth, dental crowding, and almond to 25% [2]. Additional Resources: Prader-Willi Syndrome Association 5700 Midnight Pass Road, Suite 6

  16. Clinical Features: Prader-Willi syndrome (PWS) [OMIM #176270] is a genetic disorder which causes hypotonia and poor feeding in

    E-print Network

    Gilad, Yoav

    3/10 Clinical Features: Prader-Willi syndrome (PWS) [OMIM #176270] is a genetic disorder which, and a characteristic facial appearance consisting of a thin upper- lip, down-turned mouth, dental crowding, and almond Resources: Prader-Willi Syndrome Association 5700 Midnight Pass Road, Suite 6 Sarasota, FL 34242 Phone: 800

  17. Clinical Features: X-linked Female-limited Epilepsy with Mental retardation (EFMR, OMIM#300088) is characterized by seizure

    E-print Network

    Ober, Carole

    4/11 Clinical Features: X-linked Female-limited Epilepsy with Mental retardation (EFMR, OMIM#300088 resembling Dravet syndrome or focal epilepsy with or without mental retardation. [1] Molecular Genetics EFMRLaboratories PCDH19 Analysis for X-linked Female-Limited Epilepsy with Mental Retardation #12;4/11 References: 1

  18. Clinical Features: X-linked Female-limited Epilepsy with Mental retardation (EFMR, OMIM#300088) is characterized by seizure

    E-print Network

    Gilad, Yoav

    4/11 Clinical Features: X-linked Female-limited Epilepsy with Mental retardation (EFMR, OMIM#300088 resembling Dravet syndrome or focal epilepsy with or without mental retardation. [1] Molecular Genetics EFMR Laboratories PCDH19 Analysis for X-linked Female-Limited Epilepsy with Mental Retardation #12;4/11 References

  19. Clinical Features: X-linked Female-limited Epilepsy with Mental retardation (EFMR, OMIM#300088) is characterized by seizure

    E-print Network

    Ober, Carole

    1/13 Clinical Features: X-linked Female-limited Epilepsy with Mental retardation (EFMR, OMIM#300088 resembling Dravet syndrome or focal epilepsy with or without mental retardation. [1] Molecular Genetics EFMR Laboratories LaboLaboratories PCDH19 Analysis for X-linked Female-Limited Epilepsy with Mental Retardation #12

  20. Clinical Features: X-linked Female-limited Epilepsy with Mental retardation (EFMR, OMIM#300088) is characterized by seizure

    E-print Network

    Das, Soma

    11/12 Clinical Features: X-linked Female-limited Epilepsy with Mental retardation (EFMR, OMIM epileptic encephalopathies resembling Dravet syndrome or focal epilepsy with or without mental retardation Services Laboratories LaboLaboratories PCDH19 Analysis for X-linked Female-Limited Epilepsy with Mental

  1. Clinical Features: Roberts syndrome (RBS) [OMIM #268300], also known as Roberts-SC phocomelia syndrome [OMIM #269000],

    E-print Network

    Gilad, Yoav

    2/09 Clinical Features: Roberts syndrome (RBS) [OMIM #268300], also known as Roberts-SC phocomelia syndrome [OMIM #269000], is characterized by pre- and postnatal growth retardation, mental retardation), and craniofacial abnormalities (lip/palate clefting, micrognathia, hypertelorism, exophtalmos, down

  2. Clinical Features: CDKL5 mutations have been demonstrated in a broad spectrum of phenotypes [1-5], including

    E-print Network

    Gilad, Yoav

    3/10 Clinical Features: CDKL5 mutations have been demonstrated in a broad spectrum of phenotypes [1 in patients reported to date with CDKL5 mutations is the early onset of seizures. 13/14 patients studied had seizures before 3 months of age [1]. Inheritance: CDKL5 mutations are X-linked and appear to be less common

  3. Clinical Features: Males with MCT8-specific thyroid hormone cell transporter (THCT) deficiency [OMIM #30523], also known as

    E-print Network

    Das, Soma

    1/13 Clinical Features: Males with MCT8-specific thyroid hormone cell transporter (THCT) deficiency retardation with high serum T3, and thyroid hormone cell transport defect, have severe developmental delay females have only mild thyroid hormone abnormalities but no neuropsychiatric defects (1). Patients

  4. Clinical Features: Males with MCT8-specific thyroid hormone cell transporter (THCT) deficiency [OMIM #30523], also known as

    E-print Network

    Ober, Carole

    1/13 Clinical Features: Males with MCT8-specific thyroid hormone cell transporter (THCT) deficiency retardation with high serum T3, and thyroid hormone cell transport defect, have severe developmental delay females have only mild thyroid hormone abnormalities but no neuropsychiatric defects [1]. Patients

  5. Clinical Features: Males with MCT8-specific thyroid hormone cell transporter (THCT) deficiency [OMIM #30523], also known as

    E-print Network

    Das, Soma

    4/08 Clinical Features: Males with MCT8-specific thyroid hormone cell transporter (THCT) deficiency retardation with high serum T3, and thyroid hormone cell transport defect, have severe developmental delay females have only mild thyroid hormone abnormalities but no neuropsychiatric defects [1]. Patients

  6. Clinical Features: Males with MCT8-specific thyroid hormone cell transporter (THCT) deficiency [OMIM #30523], also known as

    E-print Network

    Gilad, Yoav

    6/11 Clinical Features: Males with MCT8-specific thyroid hormone cell transporter (THCT) deficiency retardation with high serum T3, and thyroid hormone cell transport defect, have severe developmental delay females have only mild thyroid hormone abnormalities but no neuropsychiatric defects [1]. Patients

  7. Clinical Features: Males with MCT8-specific thyroid hormone cell transporter (THCT) deficiency [OMIM #30523], also known as

    E-print Network

    Das, Soma

    12/12 Clinical Features: Males with MCT8-specific thyroid hormone cell transporter (THCT-linked mental retardation with high serum T3, and thyroid hormone cell transport defect, have severe. Heterozygous carrier females have only mild thyroid hormone abnormalities but no neuropsychiatric defects [1

  8. Clinical Features: Bernard-Soulier Syndrome (BSS) is a severe bleeding disorder characterized by a prolonged bleeding time,

    E-print Network

    Gilad, Yoav

    following tooth extraction. Other symptoms such as gastrointestinal bleeding and bleeding into the skin6/11 Clinical Features: Bernard-Soulier Syndrome (BSS) is a severe bleeding disorder characterized by a prolonged bleeding time, thrombocytopenia, and extremely large platelets. Patients have a decreased number

  9. Clinical Features: Bernard-Soulier Syndrome (BSS) is a severe bleeding disorder characterized by a prolonged bleeding time,

    E-print Network

    Ober, Carole

    following tooth extraction. Other symptoms such as gastrointestinal bleeding and bleeding into the skin1/13 Clinical Features: Bernard-Soulier Syndrome (BSS) is a severe bleeding disorder characterized by a prolonged bleeding time, thrombocytopenia, and extremely large platelets. Patients have a decreased number

  10. Clinical Features: Bernard-Soulier Syndrome (BSS) is a severe bleeding disorder characterized by a prolonged bleeding time,

    E-print Network

    Das, Soma

    following tooth extraction. Other symptoms such as gastrointestinal bleeding and bleeding into the skin1/08 Clinical Features: Bernard-Soulier Syndrome (BSS) is a severe bleeding disorder characterized by a prolonged bleeding time, thrombocytopenia, and extremely large platelets. Patients have a decreased number

  11. Clinical Features: Patients with X-linked recessive chondrodysplasia punctata (CDPX1) [OMIM #302950], also known as

    E-print Network

    Gilad, Yoav

    1/08 Clinical Features: Patients with X-linked recessive chondrodysplasia punctata (CDPX1) [OMIM]. Molecular and Biochemical Genetics: The aryl sulfatase E (ARSE) gene [OMIM #300180] is a member of the sulfatase family of enzymes located on chromosome Xp22.3 [2]. Mutations in the ARSE gene have been

  12. Clinical Features: Patients with X-linked recessive chondrodysplasia punctata (CDPX1) [OMIM #302950], also known as

    E-print Network

    Ober, Carole

    6/11 Clinical Features: Patients with X-linked recessive chondrodysplasia punctata (CDPX1) [OMIM]. Molecular and Biochemical Genetics: The aryl sulfatase E (ARSE) gene [OMIM #300180] is a member of the sulfatase family of enzymes located on chromosome Xp22.3 [2]. Mutations in the ARSE gene have been

  13. Clinical Features: Patients with X-linked recessive chondrodysplasia punctata (CDPX1) [OMIM #302950], also known as

    E-print Network

    Das, Soma

    1/13 Clinical Features: Patients with X-linked recessive chondrodysplasia punctata (CDPX1) [OMIM). Molecular and Biochemical Genetics: The aryl sulfatase E (ARSE) gene [OMIM #300180] is a member of the sulfatase family of enzymes located on chromosome Xp22.3 (4). Mutations in the ARSE gene have been

  14. 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

  15. 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

  16. Clinical features and prognosis in colorectal cancer patients with different ethnicities in Northwest China

    PubMed Central

    Yusup, Akram; Wang, Hai-Jiang; Rahmutula, Azmat; Sayim, Parhat; Zhao, Ze-Liang; Zhang, Guo-Qing

    2013-01-01

    AIM: To compare the clinical factors and tumor characteristics that predict survival in colorectal cancer (CRC) patients with different ethnicities in Xin Jiang area. METHODS: A total of 1421 histopathologically confirmed sporadic CRC patients who were either Han/Chinese or Uyghur were identified and enrolled from a database of both diagnoses and operative procedures from Xin Jiang Tumor Hospital, which is affiliated to Xin Jiang Medical University between 2000 and 2007. Patients with family histories of CRC, hereditary nonpolyposis CRC, familial adenomatous polyposis, inflammatory bowel disease, carcinoid, squamous carcinoma or melanoma were excluded. The two ethnic groups were compared with regard to clinical features, tumor characteristics, disease stage, overall survival rate, disease-free survival rate and cancer-specific survival rate. The factors predicting long-term survival were assessed via both univariate and multivariate analysis. RESULTS: Among the 1421 patients with CRC enrolled in this study, 1210 patients were Han/Chinese (mean age, 62.3 ± 4.5 years; range, 19-92 years), while 211 patients were Uyghur (mean age, 52.4 ± 15.6 years; range, 17-87 years). There were significant differences in proportions of gender, age, blood type, occupation and histopathological type between the Han/Chinese and Uyghur patients (P < 0.05). The median overall, disease-free and cancer-specific survival time were 45, 62 and 65 mo for the Han/Chinese patients and 42, 49 and 61 mo for the Uyghur patients (P = 0.000, P = 0.005, P = 0.007). The cumulative 5-year survival of the Uyghur patients was significantly worse than that of the Han patients (P = 0.000). A multivariate analysis showed that age, ethnicity, histopathological type, differentiation, T (Infiltration depth), N (Lymph node metastasis), staging, postoperative metastasis and metastatic site (P < 0.05) were found to be the prognostic factors. CONCLUSION: The Uyghur CRC patients are associated with significantly younger age, more aggressive histopathologic characteristics and have significantly worse prognosis than the Han/Chinese patients. PMID:24222964

  17. European Cooperative Crohn's Disease Study (ECCDS): clinical features and natural history.

    PubMed

    Steinhardt, H J; Loeschke, K; Kasper, H; Holtermüller, K H; Schäfer, H

    1985-01-01

    In the European Cooperative Crohn's Disease Study patients from 14 centers were included in whom diagnosis was made within 2 years before study entry on the basis of generally accepted radiological, endoscopical and/or histological criteria or a combination of all. Reasons for exclusion were: diagnosis older than 2 years in patients who did not require active treatment, age less than 18 years, duration of symptoms less than 3 months, presence of complications which potentially required emergency surgery. Data on clinical features were obtained in 633 patients, of whom 452 were eligible to participate in the study. In 110 patients randomized to placebo the natural course of Crohn's disease was studied. Patients with ileocolonic involvement were younger than patients with either colonic or small intestinal involvement only. Classic ileitis terminalis was present in 14% of the patients. 49% of the patients had combined involvement of both the small and large intestine. 30% of patients had only small intestinal involvement, and in 21% colonic disease was present. Small intestinal involvement was associated with a significantly lower Crohn's Disease Activity Index (CDAI) than other anatomical locations of the disease. Perianal disease was more often associated with colonic than with small intestinal involvement. 60% of placebo patients with active disease at entry achieved at least a transient remission within the initial 5 months of study. After 2 years, 23% of patients with active disease at entry and 68% of patients with quiescent disease had reached or maintained a remission, respectively. By stepwise multiple linear regression analysis long duration of disease between diagnosis and randomization, normal serum albumin and combined involvement of small intestine and colon were identified as predictors of a more favorable outcome of patients treated with placebo. In contrast, extensive small bowel disease, treatment with steroids and bowel resection prior to study entry correlated with a less favorable outcome. However, by life table analysis outcome of previously untreated and treated patients in the placebo group was similar. PMID:2860044

  18. 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

  19. Incidence, Clinical, Microbiological Features and Outcome of Bloodstream Infections in Patients Undergoing Hemodialysis

    PubMed Central

    Fysaraki, Maria; Samonis, George; Valachis, Antonis; Daphnis, Eugenios; Karageorgopoulos, Drosos E.; Falagas, Matthew E.; Stylianou, Kostas; Kofteridis, Diamantis P.

    2013-01-01

    Objectives: Infection is a common cause of death among hemodialysis patients. The study investigated incidence, risk factors, clinical features and outcome of bloodstream infections (BSIs) in haemodialysis patients. Methods: The records of haemodialysis patients from 1999 to 2005 were reviewed. Risk factors were investigated by multivariate analysis. Results: There were identified 148 bacteremic episodes, in 102 patients. The BSI rate was 0.52 per 1000 patient-days. Of the 148 episodes, 34 occurred in patients with permanent fistulae (0.18/1000 patient-days); 19 in patients with grafts (0.39/1000 patient-days); 28 in patients with permanent tunneled central catheters (1.03/1000 patient-days); and 67 in those with temporary-catheter (3.18/1000 patient-days). With fistula as reference, the BSI ratio was 1.84 with arteriovenous graft (P=.029), 4.85 with permanent central venous catheter (P<.001), and 14.88 with temporary catheter (P <.001). Catheter related were 41 episodes (28%). Gram positive organism were responsible for 96 episodes (65%), with S. aureus ( 55%) the most frequent, followed by S. epidermidis (26%) and Gram-negative for 36 (23%), with E. coli (39%) the most frequent. Infection was polymicrobial in 14 (9.5%). Diabetes (p<0.001), low serum albumin (p=0.040) and low hemoglobin (p<0.001) were significant risk factors. During hospitalization 18 patients (18%) died. Septic shock (p<0.001) and polymicrobial infection (p=0.041) were associated with in-hospital mortality. Conclusion: The risk of BSI in patients undergoing hemodialysis is related to the catheter type and vascular access. Septic shock and polymicrobial infection predispose to unfavourable outcome. PMID:24151435

  20. 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

  1. Cytomegalovirus in liver biopsies of marrow transplant recipients: detection methods, clinical, histological and immunohistological features.

    PubMed

    Einsele, H; Waller, H D; Weber, P; Frickhofen, N; Dette, S; Horny, H P; Roos, A; Roos, H; Hebart, H; Schmidt, H

    1994-09-01

    In a retrospective analysis liver biopsy specimens obtained from 44 marrow transplant recipients were studied to evaluate the frequency of local presence of human cytomegalovirus (CMV) and graft-versus-host disease (GvHD)-like histological and immunohistological alterations in patients with and without liver dysfunction following bone marrow transplantation (BMT). In 22 of 28 patients with marked liver dysfunction after BMT and histopathological alterations described as typical for acute GvHD CMV could be detected in the liver biopsy specimen. The polymerase chain reaction (PCR) technique revealed the highest sensitivity for CMV detection in liver biopsy samples, but in 20 of 22 PCR-positive specimens CMV infection could be confirmed by at least one additional technique. All the liver biopsies obtained from 16 patients with normal liver function lacking histopathological signs of GvHD were CMV negative. In all 3 patients with CMV-positive liver biopsy started on antiviral therapy liver function improved and no generalized CMV disease occurred. All the 4 patients without local presence of CMV started on severe immunosuppressive therapy showed an improvement of liver dysfunction without occurrence of CMV infection. Local CMV infection of the liver could not be differentiated from hepatic GvHD by clinical and histopathological features, nor by immunohistological analysis of the bile duct epithelium. In contrast, only in liver biopsy with local viral presence could an increase in HLA class II- and ICAM-1 expression be demonstrated on hepatocytes. Thus, especially the high negative predictive value of the PCR technique helps to manage the patient with liver dysfunction after BMT. PMID:7845317

  2. Molecular epidemiology and clinical features of human T cell lymphotropic virus type 1 infection in Spain.

    PubMed

    Treviño, Ana; Alcantara, Luiz Carlos; Benito, Rafael; Caballero, Estrella; Aguilera, Antonio; Ramos, José Manuel; de Mendoza, Carmen; Rodríguez, Carmen; García, Juan; Rodríguez-Iglesias, Manuel; Ortiz de Lejarazu, Raúl; Roc, Lourdes; Parra, Patricia; Eiros, José; del Romero, Jorge; Soriano, Vincent

    2014-09-01

    Human T cell lymphotropic virus type 1 (HTLV-1) infection in Spain is rare and mainly affects immigrants from endemic regions and native Spaniards with a prior history of sexual intercourse with persons from endemic countries. Herein, we report the main clinical and virological features of cases reported in Spain. All individuals with HTLV-1 infection recorded at the national registry since 1989 were examined. Phylogenetic analysis was performed based on the long terminal repeat (LTR) region. A total of 229 HTLV-1 cases had been reported up to December 2012. The mean age was 41 years old and 61% were female. Their country of origin was Latin America in 59%, Africa in 15%, and Spain in 20%. Transmission had occurred following sexual contact in 41%, parenteral exposure in 12%, and vertically in 9%. HTLV-1-associated myelopathy/tropical spastic paraparesis (HAM/TSP) was diagnosed in 27 cases and adult T cell leukemia/lymphoma (ATLL) in 17 subjects. HTLV-1 subtype could be obtained for 45 patients; all but one belonged to the Cosmopolitan subtype a. One Nigerian pregnant woman harbored HTLV-1 subtype b. Within the Cosmopolitan subtype a, two individuals (from Bolivia and Peru, respectively) belonged to the Japanese subgroup B, another two (from Senegal and Mauritania) to the North African subgroup D, and 39 to the Transcontinental subgroup A. Of note, one divergent HTLV-1 strain from an Ethiopian branched off from all five known Cosmopolitan subtype 1a subgroups. Divergent HTLV-1 strains have been introduced and currently circulate in Spain. The relatively large proportion of symptomatic cases (19%) suggests that HTLV-1 infection is underdiagnosed in Spain. PMID:24924996

  3. Clinical features and short-term outcomes of pediatric acute fulminant myocarditis in a single center

    PubMed Central

    Lee, Eun Young; Lee, Hae Lyoung; Kim, Hyung Tae; Lee, Hyoung Doo

    2014-01-01

    Purpose The aims of this study were to document our single-center experience with pediatric acute fulminant myocarditis (AFM) and to investigate its clinical features and short-term outcomes. Methods We performed a retrospective chart review of all children <18 years old who were diagnosed with AFM between October 2008 and February 2013. Data about patient demographics, initial symptoms, investigation results, management, and outcomes between survivors and nonsurvivors were collected. Results Seventeen of 21 patients (80.9%) with myocarditis were diagnosed with AFM. Eleven patients (64.7%) survived to discharge, and 6 (35.3%) died. Electrocardiography on admission revealed dysrhythmia in 10 patients (58.8%); of these, all 7 patients with a complete atrioventricular block survived. Fractional shortening upon admission was significantly different between the survivors (16%) and nonsurvivors (8.5%) (P=0.01). Of the serial biochemical markers, only the initial brain natriuretic peptide (P=0.03) and peak blood urea nitrogen levels (P=0.02) were significantly different. Of 17 patients, 4 (23.5%) required medical treatment only. Extracorporeal membrane oxygenation (ECMO) was performed in 13 patients (76.5%); the survival rate in these patients was 53.8%. ECMO support was initiated >24 hours after admission in 4 of the 13 patients (30.7%), and 3 of those 4 patients (75%) died. Conclusion AFM outcomes may be associated with complete atrioventricular block upon hospital admission, left ventricular fractional shortening at admission, time from admission to the initiation of ECMO support, initial brain natriuretic peptide level, and peak blood urea nitrogen level. PMID:25550704

  4. Early versus later onset childhood-onset systemic lupus erythematosus: Clinical features, treatment and outcome.

    PubMed

    Hui-Yuen, J S; Imundo, L F; Avitabile, C; Kahn, P J; Eichenfield, A H; Levy, D M

    2011-08-01

    The objective of the study was to compare clinical features, treatment and disease outcome in patients with early versus later onset of childhood-onset systemic lupus erythematosus (cSLE). A retrospective matched cohort study of cSLE patients diagnosed between 1988 and 2008 and followed for a minimum of one year was conducted. Thirty-four pre-pubertal cSLE patients with disease onset prior to their 12th birthday were matched by ethnicity and year of diagnosis to 34 pubertal cSLE patients. The most common criteria at diagnosis in both groups were malar rash, arthritis, hematologic manifestations, and renal disease. After a mean follow-up of more than six years, a similar proportion of patients in the two groups were still prescribed corticosteroids (47% and 41%); patients in the early onset group required a significantly higher daily dose (0.6 mg/kg prednisone-equivalent versus 0.2 mg/kg, p?

  5. [A clinical feature and therapeutic strategy in pituitary adenomas associated with intracranial aneurysms].

    PubMed

    Sasagawa, Yasuo; Tachibana, Osamu; Shiraga, Shunsuke; Takata, Hisasi; Akai, Takuya; Iizuka, Hideaki

    2012-01-01

    We studied the clinical feature and treatment strategy of pituitary adenomas associated with intracranial aneurysms. Among 102 pituitary adenoma patients (mean age: 54.8 years old) who received MR angiography and/or 3D-CT angiography, seven patients (6.9%) had intracranial aneurysms. The association of an aneurysm was more common in large size adenomas (p<0.05). According to the location of the aneurysms, five patients had these in the paraclinoid portion or cavernous portion of the internal carotid artery. Using MR images, we classified the aneurysms associated with pituitary adenomas as non-adjacent, adjacent, and intra-adenoma types. In non-adjacent types, an aneurysm is located apart from the adenoma, and has less chance of exposure during transsphenoidal surgery. In adjacent types, an aneurysm is located adjacent to the adenoma, and could be exposed during transsphenoidal surgery. In intra-adenoma types, an aneurysm is encased in the adenoma. In non-adjacent type aneurysms, a resection of the pituitary adenoma can be carried out before aneurysm treatment due to the low risk of rupture during surgery. In adjacent types, a tumor resection can precede aneurysm treatment in cases of low rupture risk aneurysms and untreatable aneurysms. In intra-adenoma types, adenoma resection should come after treatment of the aneurysms. Neurosurgeons should be careful about not only the presence of aneurysms in preoperative images during transsphenoidal surgery planning, but also their locations and proximity to adenomas. Such information may be crucial in deciding the order of treatment. PMID:22223518

  6. Implicit postural control strategies in older hemodialysis patients: an objective hallmark feature for clinical balance assessment.

    PubMed

    Magnard, Justine; Hristea, Dan; Lefrancois, Gaëlle; Testa, Angelo; Paris, Anne; Deschamps, Thibault

    2014-09-01

    Elderly patients with end stage renal diseases (ESRD) undergoing hemodialyis (HD) present poorer physical function and higher accident falls than healthy elderly population. Therefore, the aim of this study was to examine the HD-related changes in postural sway in ESRD patients, as an objective hallmark of their functional abilities. We hypothesized that the ESRD symptoms (i.e. uremic syndrome) and the HD therapy affected the postural control, evidenced by higher bounding limits of center-of-pressure (COP) velocity dynamics. Fifty-five participants, including 28 HD patients and 27 age, body mass index and gender-matched healthy participants HS (70.42 ± 13.69 years; 23.46 ± 4.67 kg/m(2); 35.7% women vs. 73.62 ± 6.59 years; 25.09 ± 3.54 kg/m(2); 37% women), were asked to maintain quiet stance on force platform, with eyes open and eyes closed. COP parameters were mean and standard deviation (SD) of position, velocity and average absolute maximal velocity (AAMV) in antero-posterior and medio-lateral directions. The results revealed a significant main effect of group on velocity-based variables, highlighting that mean velocity, SD velocity and AAMV (p<0.01) were higher for HD as compared to HS. These findings identified the bounding limits of COP velocity as an objective hallmark feature of HD-related changes in postural sway. The clinical assessment of this active control of COP velocity dynamics could be useful to examine the effects of targeted intradialytic exercise programs on functional performances and for early detection of increased fall risk in HD patients. PMID:25103778

  7. Is Mass Removal an Efficient Measure to Regulate the North American Catfish Ameiurus melas Outside of Its Native Range?

    Microsoft Academic Search

    Julien Cucherousset; Jean-Marc Paillisson; Alexandre Carpentier

    2006-01-01

    The black bullhead (Ameiurus melas) is a North American species that has successfully established populations throughout Europe. The main management policy to regulate its population in France is systematic mass removal by fishers, but the efficiency of this measure has not been evaluated. In the Grande Brière Motièrre marsh (northwest France), this species currently dominates the fish assemblage. We sampled

  8. The inf luence of the invasive black bullhead Ameiurus melas on the predatory efficiency of pike Esox lucius L

    Microsoft Academic Search

    K. KREUTZENBERGER; F. L EPRIEUR; S. BROSSE

    2008-01-01

    The influence of the invasive black bullhead Ameiurus melas on the predatory efficiency of the pike Esox lucius was investigated using an additive experimental design. Pike predatory success on 0þ years roach Rutilus rutilus was significantly reduced in the presence of black bullhead. Among the different hypotheses that may explain such a pattern, the hypothesis of direct competition between pike

  9. Characterization of swarming and mating behaviour between Anopheles coluzzii and Anopheles melas in a sympatry area of Benin.

    PubMed

    Assogba, Benoît S; Djogbénou, Luc; Saizonou, Jacques; Diabaté, Abdoulaye; Dabiré, Roch K; Moiroux, Nicolas; Gilles, Jérémie R L; Makoutodé, Michel; Baldet, Thierry

    2014-04-01

    The swarm structure of two sibling species, Anopheles gambiae coluzzii and Anopheles melas, was characterize to explore the ecological and environmental parameters associated with the formation of swarms and their spatial distribution. Swarms and breeding sites were searched and sampled between January and December 2010, and larval and adult samples were identified by PCR. During the dry season, 456 swarms of An. gambiae s.l. were sampled from 38 swarm sites yielding a total of 23,274 males and 76 females. Of these 38 swarming sites, 18 were composed exclusively of An. gambiae coluzzii and 20 exclusively of An. melas, presenting clear evidence of reproductive swarm segregation. The species makeup of couples sampled from swarms also demonstrated assortative mating. The swarm site localization was close to human dwellings in the case of the An. gambiae coluzzii and on salt production sites for An. melas. At the peak of the rainy season, swarms of An. melas were absent. These findings offer evidence that the ecological speciation of these two sibling species of mosquitoes is associated with spatial swarm segregation and assortative mating, providing strong support for the hypothesis that mate recognition is currently maintaining adaptive differentiation and promoting ecological speciation. Further studies on the swarming and mating systems of An. gambiae, with the prospect of producing a predictive model of swarm distribution, are needed to inform any future efforts to implement strategies based on the use of GMM or SIT. PMID:24113221

  10. Centronuclear myopathy related to dynamin 2 mutations: Clinical, morphological, muscle imaging and genetic features of an Italian cohort

    PubMed Central

    Catteruccia, Michela; Fattori, Fabiana; Codemo, Valentina; Ruggiero, Lucia; Maggi, Lorenzo; Tasca, Giorgio; Fiorillo, Chiara; Pane, Marika; Berardinelli, Angela; Verardo, Margherita; Bragato, Cinzia; Mora, Marina; Morandi, Lucia; Bruno, Claudio; Santoro, Lucio; Pegoraro, Elena; Mercuri, Eugenio; Bertini, Enrico; D’Amico, Adele

    2013-01-01

    Mutations in dynamin 2 (DNM2) gene cause autosomal dominant centronuclear myopathy and occur in around 50% of patients with centronuclear myopathy. We report clinical, morphological, muscle imaging and genetic data of 10 unrelated Italian patients with centronuclear myopathy related to DNM2 mutations. Our results confirm the clinical heterogeneity of this disease, underlining some peculiar clinical features, such as severe pulmonary impairment and jaw contracture that should be considered in the clinical follow-up of these patients. Muscle MRI showed a distinct pattern of involvement, with predominant involvement of soleus and tibialis anterior in the lower leg muscles, followed by hamstring muscles and adductor magnus at thigh level and gluteus maximus. The detection of three novel DNM2 mutations and the first case of somatic mosaicism further expand the genetic spectrum of the disease. PMID:23394783

  11. Anaphylaxis in referred pediatric patients: demographic and clinical features, triggers, and therapeutic approach.

    PubMed

    De Swert, Liliane F A; Bullens, Dominique; Raes, Marc; Dermaux, Anna-Maria

    2008-11-01

    Anaphylaxis remains under-diagnosed and under-treated. A better knowledge of patterns and triggers of anaphylaxis might contribute to a better management. In this study we evaluated the demographic and clinical features of anaphylaxis in pediatric patients, as well as its triggers and therapeutic approach. From May 1st 2004 until April 30th 2006 we prospectively collected data on all patients referred for investigation of anaphylaxis to the pediatric department of the University Hospital Gasthuisberg Leuven and to two private pediatric practices. Data were stored in a MYSQL database by use of an online encrypted web form. Sixty-four cases of anaphylaxis occurred in 48 children, aged 6 months to 14.8 years. Twenty-seven episodes (42.2%) occurred at home. The symptoms were dermatologic in 62 (96.9%) episodes, respiratory in 57 (89.1%), gastrointestinal in 19 (29.7%), cardiovascular in 14 (21.8%), and neurological or behavioural in 19 (29.7%). Antihistamines were administered in 41/57 (71.9%) cases, corticosteroids in 26/57 (45.6%), beta-2-mimetics in 14/57 (24.6%), and adrenaline in 11/57 (19.3%). Out of nine cases where Epipen was available at the moment of anaphylaxis, it was administered in one case only. Food was the cause of anaphylaxis in 42/55 (76.4%) cases with identified trigger, while medication, insect stings, latex, and birch pollen triggered 5 (9.1%), 4 (7.3%), 3 (5.5%), and 1 (1.8%) case(s), respectively. Allergy to the trigger was known prior to anaphylaxis in 19/55 (34.5%) cases. In conclusion, anaphylaxis in pediatric patients generally presents with dermatologic and respiratory symptoms, while in 1/5 episodes cardiovascular symptoms occur. Food is by far the most frequent trigger. Allergy to the trigger is known in 1/3 cases only. Anaphylaxis is under-treated, even when appropriate medication is available. PMID:18204859

  12. A Critical Assessment of Feature Selection Methods for Biomarker Discovery in Clinical Proteomics*

    PubMed Central

    Christin, Christin; Hoefsloot, Huub C. J.; Smilde, Age K.; Hoekman, B.; Suits, Frank; Bischoff, Rainer; Horvatovich, Peter

    2013-01-01

    In this paper, we compare the performance of six different feature selection methods for LC-MS-based proteomics and metabolomics biomarker discovery—t test, the Mann–Whitney–Wilcoxon test (mww test), nearest shrunken centroid (NSC), linear support vector machine–recursive features elimination (SVM-RFE), principal component discriminant analysis (PCDA), and partial least squares discriminant analysis (PLSDA)—using human urine and porcine cerebrospinal fluid samples that were spiked with a range of peptides at different concentration levels. The ideal feature selection method should select the complete list of discriminating features that are related to the spiked peptides without selecting unrelated features. Whereas many studies have to rely on classification error to judge the reliability of the selected biomarker candidates, we assessed the accuracy of selection directly from the list of spiked peptides. The feature selection methods were applied to data sets with different sample sizes and extents of sample class separation determined by the concentration level of spiked compounds. For each feature selection method and data set, the performance for selecting a set of features related to spiked compounds was assessed using the harmonic mean of the recall and the precision (f-score) and the geometric mean of the recall and the true negative rate (g-score). We conclude that the univariate t test and the mww test with multiple testing corrections are not applicable to data sets with small sample sizes (n = 6), but their performance improves markedly with increasing sample size up to a point (n > 12) at which they outperform the other methods. PCDA and PLSDA select small feature sets with high precision but miss many true positive features related to the spiked peptides. NSC strikes a reasonable compromise between recall and precision for all data sets independent of spiking level and number of samples. Linear SVM-RFE performs poorly for selecting features related to the spiked compounds, even though the classification error is relatively low. PMID:23115301

  13. The Eating Disorder Diagnostic Scale: psychometric features within a clinical population and a cut-off point to differentiate clinical patients from healthy controls.

    PubMed

    Krabbenborg, Manon A M; Danner, Unna N; Larsen, Junilla K; van der Veer, Nienke; van Elburg, Annemarie A; de Ridder, Denise T D; Evers, Catharine; Stice, Eric; Engels, Rutger C M E

    2012-07-01

    The Eating Disorder Diagnostic Scale (EDDS) is a brief self-report measure for diagnosing anorexia nervosa, bulimia nervosa and binge eating disorder. Research has provided evidence of the reliability and validity of this scale in non-clinical populations. Our study is the first to examine the psychometric features of the EDDS in a clinical population of eating disordered patients. We identified a cut-off point that differentiates clinical patients from healthy controls. A clinical group of 59 Dutch female eating disordered patients and a control group of 45 Dutch students completed the EDDS, the Eating Disorder Examination Interview, the Body Attitude Test and the Beck Depression Inventory--II. The EDDS showed good test-retest reliability, internal consistency, criterion validity and convergent validity with other scales assessing eating and general pathology. An overall symptom composite cut-off score of 16.5 accurately distinguished clinical patients from healthy controls. The EDDS may be a useful instrument in clinical settings and in aetiologic, prevention and treatment research. PMID:21805535

  14. Clinical features of hepatocellular carcinoma in the elderly: a study of 91 patients older than 70 years.

    PubMed Central

    Nomura, F.; Ohnishi, K.; Honda, M.; Satomura, Y.; Nakai, T.; Okuda, K.

    1994-01-01

    In order to determine the clinical features of hepatocellular carcinoma in the elderly, a total of 622 patients with hepatocellular carcinoma, including 91 patients 70 years or older, were retrospectively analysed with reference to their ages at the time of diagnosis. The proportion of females increased and that of hepatitis B surface antigen-positive cases decreased as age increased. Tumour sizes at the time of diagnosis were somewhat smaller in the elderly than in younger patients, whereas clinical stage taking liver function into consideration was similar in the two age groups. The prognosis in the elderly patients was similar to that in the younger ones in a clinical stage-matched comparison. Furthermore, by a multivariate analysis using the Cox proportional hazards model with inclusion of age and other clinical parameters, age was not selected in the final model as an independent predictor for survival. These results indicate that elderly patients with hepatocellular carcinoma have certain clinical features different from those in younger patients and that their prognosis is not necessarily poorer than in the latter. PMID:7917919

  15. Clear cell acanthoma of the areola and nipple: clinical, histopathological, and immunohistochemical features of two Brazilian cases*

    PubMed Central

    da Veiga, Rossana Ruth Garcia; Barros, Renata Silva; dos Santos, Josie Eiras Bisi; Abreu Junior, José Maria de Castro; Bittencourt, Maraya de Jesus Semblano; de Miranda, Mario Fernando Ribeiro

    2013-01-01

    Clear cell acanthoma or Degos' acanthoma is a distinct disease concerning its clinical, histopathological, and immunohistochemical features. Its pathologic nature - whether neoplastic or reactive - is still under dispute among researchers. The disease shows a chronic course and often presents with a single papulonodular lesion on the lower limbs of adults. However, cases with multiple lesions, sometimes occurring in an eruptive fashion, and with clear variation in the size and shape of the cutaneous lesions have been reported. So far, five cases in which the lesions were exclusively located in the nipple area have been reported, all in Korean women. Four of these cases mimicked eczema and one, a polypoid nodule. The aim of this article is to present clinical, histopathological, and immunohistochemical features of two additional cases in Brazilian women with similar nipple topography. PMID:23539008

  16. 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

  17. Clinical and echographic features of in utero cardiac dysfunction in the recipient twin in twin-twin transfusion syndrome

    Microsoft Academic Search

    N Zosmer; R Bajoria; E Weiner; M Rigby; J Vaughan; N M Fisk

    1994-01-01

    OBJECTIVE--Fetal twin-twin transfusion syndrome (TTTS) presenting in the second trimester has been associated with almost no perinatal survival until recently, when serial drainage of amniotic fluid has improved the prognosis to 70%-80%. Most recipient twins now survive but develop cardiac dysfunction. The study was undertaken to evaluate the abnormal echocardiographic features and clinical complications of cardiac disease in the recipient

  18. Application of the new pediatric criteria and Tel Hashomer criteria in heterozygous patients with clinical features of FMF

    Microsoft Academic Search

    Z. Birsin Özçakar; Fato? Yalç?nkaya; Nilgün Çakar; Banu Acar; A. Evren Bilgiç; Nermin Uncu; Nazl? Kara; Mesiha Ekim; Özgür Kasapçopur

    Recently, a new set of criteria was established for the diagnosis of familial Mediterranean fever (FMF) in childhood. The\\u000a aim of this study is to validate the new criteria set among heterozygous patients with clinical features of FMF. The study\\u000a group consisted of FMF patients, who had a mutation at a single allele, who were followed in four pediatric nephrology–rheumatology

  19. Familial adult-onset Pompe disease associated with unusual clinical and histological features.

    PubMed

    Maggi, Lorenzo; Salerno, Franco; Bragato, Cinzia; Saredi, Simona; Blasevich, Flavia; Maccagnano, Elio; Pasanisi, Barbara; Danesino, Cesare; Mora, Marina; Morandi, Lucia

    2013-10-01

    The adult-onset form of Pompe disease had a wide clinical spectrum, ranging from asymptomatic patients with increased CK to muscle cramps and pain syndrome or rigid-spine syndrome. In addition clinical severity and disease progression are greatly variable. We report on a family with 3 siblings characterized by an unusual adult-onset Pompe disease including dysphagia and weakness of tongue, axial and limb-girdle muscles, in association with atypical globular inclusions in muscle fibres. Our study confirms the great clinical and histological variability of adult-onset Pompe disease and further supports the need of careful evaluation of bulbar function in patients affected by this pathology. PMID:24399864

  20. Anti-Fibrillarin Antibody in African American Patients with Systemic Sclerosis: Immunogenetics, Clinical Features, and Survival Analysis

    PubMed Central

    Sharif, Roozbeh; Fritzler, Marvin J.; Mayes, Maureen D.; Gonzalez, Emilio B.; McNearney, Terry A.; Draeger, Hilda; Baron, Murray; Furst, Daniel E.; Khanna, Dinesh; del Junco, Deborah J.; Molitor, Jerry A.; Schiopu, Elena; Phillips, Kristine; Seibold, James R.; Silver, Richard M.; Simms, Robert; Perry, Marilyn; Rojo, Carlos; Charles, Julio; Zhou, Xiaodong; Agarwal, Sandeep K.; Reveille, John D.; Assassi, Shervin; Arnett, Frank C.

    2011-01-01

    Background Anti-U3-RNP or anti-fibrillarin antibodies (AFA) are detected more frequently among African American (AA) patients with systemic sclerosis (SSc) compared to other ethnic groups and are associated with distinct clinical features. The current study examines the immunogenetic, clinical, and survival correlates of AFA in a large group of AA patients with SSc. Methods Overall, 278 AA SSc patients and 328 unaffected AA controls were enrolled from three North American cohorts. Clinical features, autoantibody profile, and HLA-class-II genotyping were captured. To compare the clinical manifestations, relevant clinical features were adjusted for disease duration. The Cox proportional hazards regression was used to determine the effect of AFA on survival. Results Fifty (18.5%) AA patients had AFA. After Bonferroni correction, HLA-DRB1*08:04 was associated with AFA, compared to unaffected AA controls (OR=11.5, p<0.0001) and AFA negative SSc patients (OR=5.2, p=0.0002). AFA positive AA patients had younger age of disease onset, higher frequency of digital ulcers, diarrhea, pericarditis, higher Medsger Perivascular and lower Lung Severity Indices (p=0.004, p=0.014, p=0.019, p=0.092, p=0.006, and p=0.016, respectively). After adjustment for age at enrollment, AFA positive patients did not have different survival compared with patients without AFA (p=0.493). Conclusion These findings demonstrate strong association between AFA and HLA-DRB1*08:04 allele in AA patients with SSc. Moreover, AA SSc patients with AFA had younger age of onset, higher frequency of digital ulcers, pericarditis, and severe lower gastrointestinal involvement, but less severe lung involvement compared to AA patients without AFA. However, presence of AFA did not change survival. PMID:21572159

  1. Adult and juvenile dermatomyositis: are the distinct clinical features explained by our current understanding of serological subgroups and pathogenic mechanisms?

    PubMed Central

    2013-01-01

    Adult and juvenile dermatomyositis share the hallmark features of pathognomic skin rash and muscle inflammation, but are heterogeneous disorders with a range of additional disease features and complications. The frequency of important clinical features such as calcinosis, interstitial lung disease and malignancy varies markedly between adult and juvenile disease. These differences may reflect different disease triggers between children and adults, but whilst various viral and other environmental triggers have been implicated, results are so far conflicting. Myositis-specific autoantibodies can be detected in both adults and children with idiopathic inflammatory myopathies. They are associated with specific disease phenotypes and complications, and divide patients into clinically homogenous subgroups. Interestingly, whilst the same autoantibodies are found in both adults and children, the disease features remain different within autoantibody subgroups, particularly with regard to life-threatening disease associations, such as malignancy and rapidly progressive interstitial lung disease. Our understanding of the mechanisms that underlie these differences is limited by a lack of studies directly comparing adults and children. Dermatomyositis is an autoimmune disease, which is believed to develop as a result of an environmental trigger in a genetically predisposed individual. Age-specific host immune responses and muscle physiology may be additional complicating factors that have significant impact on disease presentation. Further study into this area may produce new insights into disease pathogenesis. PMID:23566358

  2. Clinical features of children and adolescents with obsessive-compulsive disorder and hoarding symptoms

    Microsoft Academic Search

    Eric A. Storch; Caleb W. Lack; Lisa J. Merlo; Gary R. Geffken; Marni L. Jacob; Tanya K. Murphy; Wayne K. Goodman

    2007-01-01

    ObjectiveThis study was conducted to examine whether pediatric patients with obsessive-compulsive disorder (OCD) and hoarding symptoms differed in terms of clinical characteristics from pediatric OCD patients without hoarding symptoms.

  3. Liquid ecstasy intoxication: clinical features of 505 consecutive emergency department patients

    Microsoft Academic Search

    Miguel Galicia; Santiago Nogue; Òscar Miró

    2011-01-01

    BackgroundTo describe the epidemiological profile and clinical manifestations of liquid ecstasy (GHB) poisonings.MethodsAll cases of GHB poisoning or overdose admitted to the Emergency Department (ED) of the Hospital Clinic (Barcelona) between 2000 and 2007 were recorded.ResultsA total of 505 patients (mean age 24.7 years, 68% men) were included. Most patients were brought to the hospital by ambulance (98%), during the

  4. Clinical Features in Affected Individuals From 21 Pedigrees With Dominant Optic Atrophy

    Microsoft Academic Search

    M. Votruba; F. W. Fitzke; G. E. Holder; A. Carter; S. S. Bhattacharya; A. T. Moore

    1998-01-01

    Objective: To assess phenotypic variation of affected individuals from British families with autosomal domi- nant optic atrophy. Design: Eighty-seven patients from 21 families show- ing evidence of linkage to chromosome 3q were identi- fied via the Genetic Clinic of Moorfields Eye Hospital, London, England. Genetic linkage analysis was carried out with markers from chromosome 3q28-qter. Patients underwent clinical examination and

  5. Resolution of clinical and pathologic features of C1q nephropathy after rituximab therapy

    Microsoft Academic Search

    Aditi Sinha; Cynthia C. Nast; Ionut Hristea; Ashley A. Vo; Stanley C. Jordan

    2011-01-01

    C1q nephropathy is a rare idiopathic glomerulopathy characterized by mesangial deposition of immunoglobulin and complement\\u000a with C1q dominance or co-dominance, and the absence of clinical and laboratory evidence of systemic lupus erythematosus. Its\\u000a clinical course is unpredictable and the response to corticosteroid or cytotoxic treatment is variable. Here, we report two\\u000a cases of C1q nephropathy, one in a child and

  6. Clinical features of genetic Creutzfeldt-Jakob disease with V180I mutation in the prion protein gene

    PubMed Central

    Qina, Temu; Sanjo, Nobuo; Hizume, Masaki; Higuma, Maya; Tomita, Makoto; Atarashi, Ryuichiro; Satoh, Katsuya; Nozaki, Ichiro; Hamaguchi, Tsuyoshi; Nakamura, Yosikazu; Kobayashi, Atsushi; Kitamoto, Tetsuyuki; Murayama, Shigeo; Murai, Hiroyuki; Yamada, Masahito; Mizusawa, Hidehiro

    2014-01-01

    Objectives Genetic Creutzfeldt-Jakob disease (CJD) due to V180I mutation in the prion protein gene (PRNP) is of great interest because of the differences from sporadic CJD and other genetic prion diseases in terms of clinical features, as well as pathological and biochemical findings. However, few systematic observations about the clinical features in patients with this unique mutation have been published. Therefore, the goal of this study was to relate this mutation to other forms of CJD from a clinical perspective. Design We analysed clinical symptoms, prion protein genetics, biomarkers in cerebrospinal fluid (CSF) and MRI of patients. Participants 186 Japanese patients with the V180I mutation in PRNP. Results Our results indicate that the V180I mutation caused CJD at an older age, with a slower progression and a lower possibility of developing myoclonus, cerebellar, pyramidal signs and visual disturbance compared with classical sporadic CJD with methionine homozygosity at codon 129 of PRNP. Cognitive impairment was the major symptom. Diffuse hyperintensity of the cerebral cortex in diffusion-weighted MRI might be helpful for diagnosis. Owing to the low positivity of PrPSc in the CSF, genetic analysis was often required for a differential diagnosis from slowly progressive dementia. Conclusions We conclude that the V180I mutation in PRNP produces a late-developing and slow-developing, less severe form of CJD, whose lesions are uniquely distributed compared with sporadic and other genetic forms of CJD. PMID:24838726

  7. An exploration of the communication patterns and language used between clinical geneticists and parents of children with dysmorphic features.

    PubMed

    Steel, Emma J; Hodgson, Jan; Stirling, Lesley; White, Susan M

    2014-11-01

    The present study aims to provide insight into the interactions between clinical geneticists and parents of children with dysmorphic features during syndrome assessment. Seven families attending a dysmorphology clinic for syndrome assessment consented to have their consultation recorded and transcribed verbatim. Content and discourse analyses were used to study the language and communication patterns of problematic and challenging sections of the consultations, primarily sections concerning the child's appearance and diagnosis which were marked by dysfluency and hesitation, indicators of problematic communication. Findings revealed that the clinical geneticists used a range of communicative strategies when discussing a child's appearance, such as comparing the child's features with those of parents or other individuals and minimizing differences. In doing so they displayed an orientation to the "face-threatening" nature of this communicative task. While geneticists discussed the child's appearance in an extremely sensitive manner, parents tended to describe their child's appearance using direct and objective language. These findings provide novel insight into the complexity of syndrome assessment consultations in a dysmorphology clinic. We suggest that parents may be seeking a more open discussion of their child's appearance, and clinician engagement with this may prove a more effective communication strategy than those currently employed, while remaining sensitive to parents' responses to such a discussion. At the start of the consultation it is important to give parents the opportunity to voice their concerns and expectations, and to explain to parents that a diagnosis may not be reached. PMID:25250868

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

    PubMed

    Hsiao, Ching-Hsi; 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

  9. 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

  10. Cognitive Features of Essential Tremor: A Review of the Clinical Aspects and Possible Mechanistic Underpinnings

    PubMed Central

    Bermejo-Pareja, Félix; Puertas-Martín, Verónica

    2012-01-01

    The classical concept of essential tremor (ET) as a monosymptomatic tremorogenic disorder has been questioned in the last decade as new evidence has been described. Clinical, neuroimaging, and pathological studies have described a probable structural basis (mainly in cerebellum) and evidence that ET is associated with subtle clinical cerebellar deficits and several non-motor clinical manifestations, such as cognitive and mood disorders. We performed literature searches in Medline, ISI Web of Knowledge, and PsycInfo databases. The aim of this review is to describe cognitive deficits associated with ET. First, we present a brief history of ET cognitive disorders presented. Second, we describe several clinical cross-sectional series demonstrating that ET is associated with mild cognitive deficits of attention, executive functions, several types of memory (working memory, immediate, short term, delayed, and possibly others) and, mood disorders (depression). Recent neuroimaging studies favor a cerebellar basis for these cognitive deficits. Population-based surveys confirm that mild cognitive dysfunction is not limited to severe ET cases, the entire ET group, including mild and undiagnosed cases, can be affected. Cohort studies indicated that ET cognitive deficits could be progressive and that ET patients had an increased risk of dementia. The mood and cognitive deficits in ET are in agreement with cognitive affective cerebellar syndrome described in patients with cerebellar disorders. New evidence, mainly from functional (neuroimaging) and prospective clinical studies would further bolster recent descriptions of ET clinical manifestations. PMID:23440004

  11. Clinical and laboratorial profile and histological features on minor salivary glands from patients under investigation for Sjögren’s syndrome

    PubMed Central

    Pereira, Débora L.; Vilela, Verônica S.; dos-Santos, Teresa C R B.

    2014-01-01

    Diagnosis of Sjögren’s syndrome (SS) is complex and the usefulness of labial minor salivary glands biopsy in this process remains controversial. Objectives: to evaluate the clinical and laboratorial profile and histological features on labial minor salivary glands from patients under investigation of SS. Study Design: clinical charts from 38 patients under suspicion of SS and submitted to labial minor salivary glands biopsies were reviewed. Clinical and laboratorial data were retrieved from the clinical files and the HE-stained histological slides were reviewed under light microscopy. Results: mean age of the patients was 56.5 years and 97% were females; histological analysis showed that 42% of the cases showed ductal dilatation, lymphocytic foci were found in 52.6% and, from this group, 80% of the cases presented a foci/lobules ratio above 0.8. Acinar/ductal ratio was considered diminished in 39.5% of the samples. Thirty six (95%) and 32 (84%) patients, respectively, complained about xerostomia and xerophthalmia. A study of the time interval of the symptoms that led to SS investigation showed a mean of 116 months. Moreover, sixty-six percent of the patients had already been submitted to immunosuppressive therapy prior to the labial minor salivary gland biopsy. Age of the patients, scintigraphic alterations on salivary function, antinuclear factor (ANF), anti-Ro and anti-La did not show statistical significant association with the histological features. Lobules/foci ratio above 0.8 was the only histological parameter statistically associated with Sjögren’s syndrome diagnosis (p<0.0001). Conclusions: in the studied sample, lymphocytic foci on salivary glands were the only histological parameter associated to the diagnosis of SS. Early indication of labial minor salivary gland biopsy to patients under investigation of SS could limit the effects of immunosuppressive therapy on the histological features associated with the evolution of salivary gland involvement in SS. Key words:Sjögren syndrome, minor salivary glands, biopsy, lymphocytic foci. PMID:24316710

  12. Lumbar Spinal Stenosis CAD from Clinical MRM and MRI Based on Inter-and Intra-Context Features with a Two-Level Classifier

    E-print Network

    Chaudhary, Vipin

    taken the significant part of the clinical evaluation of the lumbar spine. This is mainly due, and myelography, MRI has been adopted as a primary diagnostic tool in the clinical evaluation of the lumbar spineLumbar Spinal Stenosis CAD from Clinical MRM and MRI Based on Inter- and Intra-Context Features

  13. Pathogenic compound heterozygous ATP7B mutations with hypoceruloplasminaemia without clinical features of Wilson's disease.

    PubMed

    Arruda, Walter O; Munhoz, Renato P; de Bem, Ricardo S; Deguti, Marta M; Barbosa, Egberto Reis; Zavala, Jorge A; Teive, Hélio A G

    2014-02-01

    The authors report a 44-year-old man with a history of attention deficit and hyperactivity disorder, obsessive compulsive behaviour, vocal tics, depression, and anxiety, in whom a compound heterozygous ATP7B mutation was found, associated with hypoceruloplasminemia, but without clinical or pathological manifestation of Wilson's disease (WD). Genetic testing revealed a compound heterozygous ATP7B mutation already described in WD, p.Met645Arg (C1934TG/c.51+4A?T). Hypoceruloplasminaemia was detected but no clinical manifestations (hepatic or central nervous system) of WD were present. The authors conclude that patients can carry a heterozygous mutation of the ATP7B gene that is associated with hypoceruloplasminaemia and display no overt clinical hepatic and/or central nervous system manifestations of WD. PMID:23962630

  14. 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).

  15. A prospective study of acute idiopathic neuropathy. I. Clinical features and their prognostic value

    Microsoft Academic Search

    J B Winer; R A Hughes; C Osmond

    1988-01-01

    A prospective study in South-East England during 15 months in 1983-1984 recruited 100 patients with acute idiopathic neuropathy. After 12 months 67% had recovered completely, 20% were still significantly disabled and 13% had died. Ten of the 13 deaths were attributable to the neuropathy. The major features in the initial assessment which were associated with persistent disability were the time

  16. CLINICAL STUDY – PATIENT STUDY Metastatic skull tumors: MRI features and a new conventional classification

    E-print Network

    Ó The Author(s) 2010. This article is published with open access at Springerlink.com Abstract Skull metastases are malignant bone tumors which are increasing in incidence. The objectives of this study were to characterize the MR imaging features, locations, and extent of metastatic skull tumors to determine the frequency of the symptomatic disease, and to assess patient

  17. Clinical Features: Rett syndrome is a progressive neurodevelopmental disorder, primarily affecting females. Rett syndrome is

    E-print Network

    Gilad, Yoav

    or congenital onset) · Males with moderate to severe, non-specific mental retardation and encephalopathy · Males with features similar to classic Rett syndrome · Families with X-linked mental retardation o ~2% of males with X-linked mental retardation have mutations in MeCP2 [4] o Four male patients with severe mental retardation

  18. Clinical Features: Rett syndrome is a progressive neurodevelopmental disorder, primarily affecting females. Rett syndrome is

    E-print Network

    Ober, Carole

    or congenital onset) Males with moderate to severe, non-specific mental retardation and encephalopathy Males with features similar to classic Rett syndrome Families with X-linked mental retardation o ~2% of males with X-linked mental retardation have mutations in MeCP2 [4] o Four male patients with severe mental retardation

  19. Clinical Features: Rett syndrome is a progressive neurodevelopmental disorder, primarily affecting females. Rett syndrome is

    E-print Network

    Das, Soma

    or congenital onset) Males with moderate to severe, non-specific mental retardation and encephalopathy Males with features similar to classic Rett syndrome Families with X-linked mental retardation o ~2% of males with X-linked mental retardation have mutations in MeCP2 (4) o Four male patients with severe mental retardation

  20. Clinical Features of Group B Streptococcus Prosthetic Joint Infections and Molecular Characterization of Isolates ?

    PubMed Central

    Corvec, S.; Illiaquer, M.; Touchais, S.; Boutoille, D.; van der Mee-Marquet, N.; Quentin, R.; Reynaud, A.; Lepelletier, D.; Bémer, P.

    2011-01-01

    Twelve group B Streptococcus (GBS) prosthetic joint infection (PJI) cases are reported. The mean patient age was 55 years. Eleven infections were caused by GBS alone. The associated isolates belonged to phylogenetic lineages different from those that cause neonatal meningitis. The clinical outcome was favorable for the eight patients for whom follow-up data were available. PMID:21068273

  1. Clinical Features of Autosomal Dominant Retinitis Pigmentosa Associated with a Rhodopsin Mutation

    Microsoft Academic Search

    Haoyu Chen; Yali Chen; Rachael Horn; Zhenglin Yang; Changguan Wang; Matthew J Turner; Kang Zhang

    2006-01-01

    Introduction: Retinitis pigmentosa (RP) describes a group of inherited disorders characterised by progressive retinal dysfunction, cell loss and atrophy of retinal tissue. RP demonstrates considerable clinical and genetic heterogeneity, with wide variations in disease severity, progres- sion, and gene involvement. We studied a large family with RP to determine the pattern of inheritance and identify the disease-causing mutation, and then

  2. Orbital and cerebral cavernomas: comparison of clinical, neuroimaging, and neuropathological features

    Microsoft Academic Search

    Nedal Hejazi; Reinhard Classen; Werner Hassler

    1999-01-01

    Our results with 15 orbital cavernomas showed that there are important differences in comparison with cerebral cavernomas: in contrast all orbital cavernomas were embedded by a lilac hard and compact capsule. Clinical symptoms were characterized by the growth of the orbital cavernomas. There were no signs of hemorrhage, which is typical for cerebral cavernomas. The latter showed in contrast to

  3. Endometrial Cells in Cervical Cytology: Review of Cytological Features and Clinical Assessment

    Microsoft Academic Search

    David L. Greenspan; Marina Cardillo; Diane D. Davey; Debra S. Heller; Ann T. Moriarty

    2006-01-01

    h Abstract: The 2001 Bethesda System for Reporting Cervical Cytology recommends reporting benign exfo- liated endometrial cells in women age 40 and older, and a review of the literature supports this recom- mendation. Stromal cells and histiocytes do not need to be reported. The effect of hormonal therapy on endometrial shedding is reviewed. Clinical information should be provided to the

  4. 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

    2014-08-01

    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

  5. Heart failure with preserved ejection fraction: mechanisms, clinical features, and therapies.

    PubMed

    Sharma, Kavita; Kass, David A

    2014-06-20

    The clinical syndrome comprising heart failure (HF) symptoms but with a left ventricular ejection fraction (EF) that is not diminished, eg, HF with preserved EF, is increasingly the predominant form of HF in the developed world, and soon to reach epidemic proportions. It remains among the most challenging of clinical syndromes for the practicing clinician and scientist alike, with a multitude of proposed mechanisms involving the heart and other organs and complex interplay with common comorbidities. Importantly, its morbidity and mortality are on par with HF with reduced EF, and as the list of failed treatments continues to grow, HF with preserved EF clearly represents a major unmet medical need. The field is greatly in need of a more unified approach to its definition and view of the syndrome that engages integrative and reserve pathophysiology beyond that related to the heart alone. We need to reflect on prior treatment failures and the message this is providing, and redirect our approaches likely with a paradigm shift in how the disease is viewed. Success will require interactions between clinicians, translational researchers, and basic physiologists. Here, we review recent translational and clinical research into HF with preserved EF and give perspectives on its evolving demographics and epidemiology, the role of multiorgan deficiencies, potential mechanisms that involve the heart and other organs, clinical trials, and future directions. PMID:24951759

  6. 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.)…

  7. Primary sclerosing cholangitis in 32 children: Clinical, laboratory, and radiographic features, with survival analysis

    Microsoft Academic Search

    Michael Wilschanski; Peter Chait; Judy A. Wade; Lori Davis; Mary Corey; Patrick St. Louis; Anne M. Griffiths; Laurence M. Blendis; Stanley P. Moroz; Linda Scully; Eve A. Roberts

    1995-01-01

    The clinical presentation and outcome of 32 children with primary sclerosing cholangitis (PSC) are reviewed, the largest North American series. The majority of patients were diagnosed in their second decade (median age: 13 years). Four children presented before the age of 2 years, but none in the neonatal period. Seventeen patients had inflammatory bowel disease (IBD), all with colitis, 14

  8. Clinical features and correlates of major depressive disorder in individuals with body dysmorphic disorder

    Microsoft Academic Search

    Katharine A. Phillips; Elizabeth R. Didie; William Menard

    2007-01-01

    Background: Body dysmorphic disorder (BDD) and major depressive disorder (MDD) appear highly comorbid. However, MDD in individuals with BDD has received little investigation. Methods: The prevalence and characteristics of comorbid MDD were assessed in 178 BDD subjects. BDD subjects with current comorbid MDD (n=68) were compared to BDD subjects without current comorbid MDD (n=96) on demographic and clinical characteristics. Predictors

  9. Clinical features and management of gamma-hydroxybutyrate (GHB) withdrawal: a review

    Microsoft Academic Search

    Michael McDonough; Noel Kennedy; Anthony Glasper; Jenny Bearn

    2004-01-01

    Aim: To examine the clinical course of gamma-hydroxybutyrate (GHB) withdrawal and generate management guidelines. Design: Review and analysis of all published reports of GHB or GHB precursor withdrawal identified from electronic searches. Findings: In total, 38 cases of GHB (n=28) or GHB precursor (n=10) withdrawal were identified, 36 of which were from the US. A rapidly deteriorating course into delirium

  10. Clinical Characteristics, Outcomes, and Microbiologic Features Associated with Methicillin-Resistant Staphylococcus aureus Bacteremia in Pediatric Patients Treated with Vancomycin ?

    PubMed Central

    Welsh, Kerry J.; Abbott, April N.; Lewis, Evan M.; Gardiner, Jeanelle M.; Kruzel, Mark C.; Lewis, Cole T.; Mohr, John F.; Wanger, Audrey; Armitige, Lisa Y.

    2010-01-01

    Vancomycin is the first-line therapy for methicillin-resistant Staphylococcus aureus (MRSA) bacteremia, but its efficacy in adult patients has been questioned. Less is known about the outcomes of MRSA bacteremia treated with vancomycin in pediatric patients. This study reviews the outcomes and clinical characteristics of MRSA bacteremia in children treated with vancomycin and characterizes the microbiologic and molecular features of the bloodstream isolates. A retrospective cohort study was conducted among pediatric patients with MRSA bacteremia treated with vancomycin for >5 days from 1 August 2005 to 31 May 2007 in a large tertiary care center. MRSA bloodstream isolates were characterized by antimicrobial susceptibility testing, PCR analysis of virulence genes, and Diversilab typing. Clinical records were reviewed for outcomes and comorbidities. A total of 22 pediatric patients with MRSA bacteremia were identified. Eleven cases (50.0%) were considered vancomycin treatment failures. Features significantly associated with vancomycin treatment failure were prematurity (P = 0.02) and isolates positive for Panton-Valentine leukocidin (PVL) (P = 0.008). Features typically associated with community-associated MRSA strains were identified in hospital-associated isolates. A dominant clone was not responsible for the high number of treatment failures. Further studies are needed to determine if vancomycin should be the first-line treatment for MRSA bacteremia in premature infants and for PVL-positive isolates. PMID:20089758

  11. A severe course of Cronkhite-Canada syndrome and the review of clinical features and therapy in 49 Chinese patients.

    PubMed

    She, Qiang; Jiang, Jian-Xia; Si, Xin-Min; Tian, Xue-Ying; Shi, Rui-Hua; Zhang, Guo-Xin

    2013-01-01

    We describe a severe case of Cronkhite-Canada syndrome and review the clinical features and therapy in 49 Chinese patients. A 67-year-old man who underwent severe chronic diarrhea had typical clinical manifestations of hyperpigmentation, hair loss, and dystrophic changes in the fingernails. Although sufficient nutrition support and other therapies reported in the literature were provided, the patient died of systemic failure one year later. Cronkhite-Canada syndrome is characterized by generalized gastrointestinal polyps associated with hyperpigmentation, hair loss, and onycholysis. Anemia, positive stool occult blood, serum electrolyte disturbances, and low serum proteins are the main clinical features of patients with Cronkhite-Canada syndrome. Most patients were diagnosed by esophagogastroduodenoscopy and/or colonoscopy, and polyps were found in the entire alimentary tract, except the notable exception of the esophagus. The polyp-like samples of mucosa, hyperplasia, and adenoma were characterized by acute/chronic inflammation. Four cases were complicated with cancer. The treatment of Cronkhite-Canada syndrome includes symptomatic and support therapy, administration of corticosteroids, antibiotics and acid inhibitors, therapeutic endoscopy, and surgery. While the mortality rate was reported as 47.3% (9/19), some patients may live a long life with controlled symptoms. PMID:24226722

  12. [Epidemiology, clinical features and betaserc therapy of vertigo in initial and reversible cerebrovascular pathology].

    PubMed

    Gornostaeva, G V; Varakin, Iu Ia; Prokopovich, M E; Alekseeva, N S; Fedin, P A; Chechetkin, A O

    2005-01-01

    The study comprised two sections: epidemiologic and clinical. The aim of the epidemiologic investigation was to determine prevalence of vertigo, including its mild cases, in patients with initial and reversible forms of cerebrovascular pathology. While screening an open population, 726 men and women aged 35-60 years have been examined using uniform program. Vertigo was detected in 30%, frequent and long-lasting one in 14.6% cases (8.1% men and 21.9% women, p < 0.001). A clinical section included a profound examination of 40 patients. Along with duplex scanning of major brain arteries, neurologic and otoneurologic examination of the patients, aucoustic stem evoked potentials have been registered. Marked dysfunctions of autonomic nervous system and changes in functioning of different vestibular analyzer regions were revealed. High efficacy of betaserk used during 2 months in dosage 16 mg three times a day was demonstrated by improvement of the patient's state in 97% cases. PMID:16250576

  13. Idiopathic retroperitoneal fibrosis (RPF): clinical features of 61 cases and literature review

    Microsoft Academic Search

    Kun-Peng Li; Jian Zhu; Jiang-Lin Zhang; Feng Huang

    2011-01-01

    The objective of this study is to describe the clinical characteristics of patients with idiopathic retroperitoneal fibrosis\\u000a (RPF). A retrospective analysis of patients diagnosed with idiopathic RPF in Chinese People’s Liberation Army General Hospital\\u000a was conducted. Sixty-one patients with idiopathic RPF were identified. Male to female ratio was 3.7: 1. The mean age was 55.7 years.\\u000a One patient had polymyositis and

  14. Natural history and clinical features of aspirin-exacerbated respiratory disease

    Microsoft Academic Search

    John M. Fahrenholz

    2003-01-01

    Aspirin-exacerbated respiratory disease (AERD) is a clinical syndrome characterized by chronic rhinosinusitis, nasal polyposis,\\u000a asthma and precipitation of asthma, and rhinitis attacks after ingestion of aspirin (ASA) and most other nonsteroidal antiinflammatory\\u000a drugs (NSAIDs). Although precipitation of asthma attacks by ingestion of ASA and other NSAIDs is considered a hallmark of\\u000a the syndrome, the respiratory mucosal inflammatory disease process begins

  15. Spectrum of clinical features associated with interstitial chromosome 22q11 deletions: a European collaborative study

    Microsoft Academic Search

    A K Ryan; J A Goodship; D I Wilson; N Philip; A Levy; H Seidel; S Schuffenhauer; H Oechsler; B Belohradsky; M Prieur; A Aurias; F L Raymond; J Clayton-Smith; E Hatchwell; C McKeown; F A Beemer; B Dallapiccola; G Novelli; J A Hurst; J Ignatius; A J Green; R M Winter; L Brueton; K Brøndum-Nielsen; P J Scambler

    1997-01-01

    We present clinical data on 558 patients with deletions within the DiGeorge syndrome critical region of chromosome 22q11. Twenty-eight percent of the cases where parents had been tested had inherited deletions, with a marked excess of maternally inherited deletions (maternal 61, paternal 18). Eight percent of the patients had died, over half of these within a month of birth and

  16. Postradiation Sarcomas: A Review of the Clinical and Imaging Features in 63 Cases

    Microsoft Academic Search

    DECLAN G. SHEPPARD; HERMANN I. LIBSHITZ

    2001-01-01

    AIMS: The development of sarcomas is a recognized complication of radiation therapy. We set out to retrospectively review the clinical and therapeutic demographics, as well as the cross-sectional imaging findings in patients with post-radiation sarcomas.MATERIALS AND METHODS: Sixty-three patients with post-radiation sarcomas were identified at a single institution. Computed tomography and\\/or magnetic resonance imaging was available for all patients. The

  17. Cutaneous smooth muscle neoplasms: Clinical features, histologic findings, and treatment options

    Microsoft Academic Search

    Valerie A. Holst; Jacqueline M. Junkins-Hopkins; Rosalie Elenitsas

    2002-01-01

    Cutaneous smooth muscle is present in 3 separate locations: arrector pili muscles, blood vessel walls, and genital\\/areolar skin. Benign or malignant smooth muscle neoplasms may arise from each of these locations. This review discusses the pathogenesis, clinical manifestations, histologic findings, prognosis, treatment options, and controversial areas of cutaneous smooth muscle neoplasms. ( J Am Acad Dermatol 2002;46:477-90.) Learning objective: At

  18. Clinical, Histological and Immunopathological Features of 58 Patients with Subacute Cutaneous Lupus erythematosus

    Microsoft Academic Search

    Aurora Parodi; Marzia Caproni; Carla Cardinali; Elisabetta Bernacchi; Alessandra Fuligni; Giuseppe De Panfilis; Cristina Zane; Manuela Papini; Farnase Cleto Veller; Mario Vaccaro; Paolo Fabbri

    2000-01-01

    Background: Subacute cutaneous lupus erythematosus (SCLE) is a distinct subset of cutaneous lupus erythematosus clinically characterized by psoriasiform and\\/or annular lesions and by a mild or absent systemic involvement. Objective: The Italian Group of Immunodermatology of the Italian Society of Dermatology and Venereology reviewed the cases of SCLE seen in 10 years (1987–1996). Patients: Forty-six women and 12 men have

  19. 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

  20. Autoimmune hemolytic anemia in chronic lymphocytic leukemia: clinical, therapeutic, and prognostic features

    Microsoft Academic Search

    Francesca R. Mauro; Robert Foa; Raffaella Cerretti; Diana Giannarelli; Serelina Coluzzi; Franco Mandelli; Gabriella Girelli

    2000-01-01

    Fifty-two cases of autoimmune hemolytic anemia (AHA) were observed within a series of 1203 patients (4.3%) with chronic lymphocytic leukemia (CLL) followed at a single institution. Nineteen were ob- served at the time of CLL diagnosis and 33 during the clinical follow-up. Ninety percent of the patients with CLL\\/AHA showed active CLL and 25% had been treated previously. The antierythrocyte

  1. Human CD34 ? Hematopoietic Stem Cells: Basic Features and Clinical Relevance

    Microsoft Academic Search

    Kiyoshi Ando

    2002-01-01

    CD34 has been widely used as a stem and progenitor cell marker, and clinical CD34+ stem cell transplantation (CD34+ SCT) has been performed for tumor purging and for prevention of graft-versus-host disease. Recently, CD34-negative hemato-poietic\\u000a stem cells (CD34? HSCs) were identified in mice and humans. Xenogeneic chimera engraftment assays with immun-odeficient mice or preimmune fetal\\u000a sheep resulted in identification of

  2. Which clinical features distinguish inflicted from non-inflicted brain injury? A systematic review

    Microsoft Academic Search

    S Maguire; N Pickerd; D Farewell; M Mann; V Tempest; A M Kemp

    2009-01-01

    Aim:A systematic review of the scientific literature to define clinical indicators distinguishing inflicted (iBI) from non-inflicted brain injury (niBI).Methods:An all language literature search of 20 electronic databases, websites, references and bibliographies from 1970–2008 was carried out. Relevant studies were independently reviewed by two trained reviewers, with a third review where required. Inclusion criteria included primary comparative studies of iBI and

  3. Clinical features at first visit and rapid disease progression in Parkinson's disease

    Microsoft Academic Search

    Leslie W. Ferguson; Michele L. Rajput; Nazeem Muhajarine; Syed M. Shah; Alexander Rajput

    2008-01-01

    We report a retrospective multivariable analysis of the association between patient characteristics at first clinic visit and rapid disease progression in 1411 Parkinson's disease patients treated between 1985 and 2006. At first visit rapid progression was positively associated with age at onset?70 years (OR=5.77), rigidity (OR=1.94), bradykinesia (OR=1.73), dementia (OR=2.61), and levodopa use (OR=1.74). Rapid progression was negatively associated with

  4. Primary central nervous system sarcomas in children: clinical, radiological, and pathological features

    Microsoft Academic Search

    Mubarak Al-Gahtany; Manohar Shroft; Eric Bouffet; Peter Dirks; James Drake; Robin Humphreys; Normand Laperriere; Cynthia Hawkins; James Rutka

    2003-01-01

    Patients and methods The clinical, radiological, surgical, and pathological findings of 16 children with a primary central nervous system (CNS) sarcoma are reported. There were 8 (50%) girls and 8 (50%) boys ranging in age from 4 months to 14 years (mean age 4.8 years). Four patients (23%) were in their 1st year of life. Fourteen children (87%) had an intracranial sarcoma, and

  5. Cutaneous leishmaniasis in Syria: clinical features, current status and the effects of war.

    PubMed

    Hayani, Kinan; Dandashli, Anwar; Weisshaar, Elke

    2015-01-01

    Cutaneous leishmaniasis (CL) is a worldwide disease caused by an infection with the protozoan parasite Leishmania transmitted via sand flies. It is endemic in many of the poorest countries of all continents. "Aleppo boil" is one of the recognised names given to this disease in the medical literature. Although CL used to be well-controlled and well-documented in Syria, its incidence has dramatically increased since the beginning of the war; however, there is lack of documentation. Here, we present the past and current epidemiological situation of the disease in Syria. We also draw attention to gross and highly unusual clinical variants of CL presented to the Department of Dermatology in Aleppo covering the important differential clinical diagnoses, since this disease is already known to mimic other conditions. Diagnostic procedures and treatment as well as prevention are summarised. Due to the increased ability to travel, and especially the flight of Syrians to neighbouring countries, as well as to Europe, CL may become a new threat in formerly unaffected regions. Through this account, we hope to give weight to the aspiration that CL does not remain a neglected and often clinically overlooked tropical dermatosis. PMID:25342106

  6. [Numeric alterations in the dys gene and their association with clinical features].

    PubMed

    Mampel, Alejandra; Echeverría, María Inés; Vargas, Ana Lía; Roque, María

    2011-01-01

    The Duchenne/Becker muscular dystrophy is a hereditary miopathy with a recessive sex-linked pattern. The related gene is called DYS and the coded protein plays a crucial role in the anchorage between the cytoskeleton and the cellular membrane in muscle cells. Different clinical manifestations are observed depending on the impact of the genetic alteration on the protein. The global register of mutations reveals an enhanced frequency for deletions/duplications of one or more exons affecting the DYS gene. In the present work, numeric alterations have been studied in the 79 exons of the DYS gene. The study has been performed on 59 individuals, including 31 independent cases and 28 cases with a familial link. The applied methodology was Multiplex Ligation Dependent Probe Amplification (MLPA). In the 31 independent cases clinical data were established: i.e. the clinical score, the Raven test percentiles, and the creatininphosphokinase (CPK) blood values. Our results reveal a 61.3% frequency of numeric alterations affecting the DYS gene in our population, provoking all of them a reading frame shift. The rate for de novo mutations was identified as 35.2%. Alterations involving a specific region of one exon were observed with high frequency, affecting a specific region. A significant association was found between numeric alterations and a low percentile for the Raven test. These data contribute to the local knowledge of genetic alterations and their phenotypic impact for the Duchenne/Becker disease. PMID:21550932

  7. Inborn errors of IL-12/23- and IFN-gamma-mediated immunity: molecular, cellular, and clinical features.

    PubMed

    Filipe-Santos, Orchidée; Bustamante, Jacinta; Chapgier, Ariane; Vogt, Guillaume; de Beaucoudrey, Ludovic; Feinberg, Jacqueline; Jouanguy, Emmanuelle; Boisson-Dupuis, Stéphanie; Fieschi, Claire; Picard, Capucine; Casanova, Jean-Laurent

    2006-12-01

    Mendelian susceptibility to mycobacterial diseases confers predisposition to clinical disease caused by weakly virulent mycobacterial species in otherwise healthy individuals. Since 1996, disease-causing mutations have been found in five autosomal genes (IFNGR1, IFNGR2, STAT1, IL12B, IL12BR1) and one X-linked gene (NEMO). These genes display a high degree of allelic heterogeneity, defining at least 13 disorders. Although genetically different, these conditions are immunologically related, as all result in impaired IL-12/23-IFN-gamma-mediated immunity. These disorders were initially thought to be rare, but have now been diagnosed in over 220 patients from over 43 countries worldwide. We review here the molecular, cellular, and clinical features of patients with inborn errors of the IL-12/23-IFN-gamma circuit. PMID:16997570

  8. Clinical features and growth hormone receptor gene mutations of patients with Laron syndrome from a Chinese family.

    PubMed

    Ying, Yan-Qin; Wei, Hong; Cao, Li-Zhi; Lu, Juan-Juan; Luo, Xiao-Ping

    2007-08-01

    Laron syndrome is an autosomal recessive disorder caused by defects of growth hormone receptor (GHR) gene. It is characterized by severe postnatal growth retardation and characteristic facial features as well as high circulating levels of growth hormone (GH) and low levels of insulin-like growth factor I (IGF-I) and insulin-like growth factor binding protein-3 (IGFBP-3). This report described the clinical features and GHR gene mutations in 2 siblings with Laron syndrome in a Chinese family. Their heights and weights were in the normal range at birth, but the growth was retarded after birth. When they presented to the clinic, the heights of the boy (8 years old) and his sister (11 years old) were 80.0 cm (-8.2 SDS) and 96.6 cm (-6.8 SDS) respectively. They had typical appearance features of Laron syndrome such as short stature and obesity, with protruding forehead, saddle nose, large eyes, sparse and thin silky hair and high-pitched voice. They had higher basal serum GH levels and lower serum levels of IGF-I, IGFBP-3 and growth hormone binding protein (GHBP) than normal controls. The peak serum GH level after colonidine and insulin stimulations in the boy was over 350 ng/mL. After one-year rhGH treatment, the boy's height increased from 80.0 cm to 83.3 cm. The gene mutation analysis revealed that two patients had same homozygous mutation of S65H (TCA -->CCA) in exon 4, which is a novel gene mutation. It was concluded that a definite diagnosis of Laron syndrome can be made based on characteristic appearance features and serum levels of GH, IGF-I, IGFBP-3 and GHBP. The S65H mutation might be the cause of Laron syndrome in the two patients. PMID:17706034

  9. Chronic kidney disease, severe arterial and arteriolar sclerosis and kidney neoplasia: on the spectrum of kidney involvement in MELAS syndrome

    PubMed Central

    2012-01-01

    Background MELAS syndrome (MIM ID#540000), an acronym for Mitochondrial Encephalopathy, Lactic Acidosis and Stroke-like episodes, is a genetically heterogeneous mitochondrial disorder with protean manifestations and occasional kidney involvement. Interest in the latter is rising due to the identification of cases with predominant kidney involvement and to the hypothesis of a link between mitochondrial DNA and kidney neoplasia. Case presentation We report the case of a 41-year-old male with full blown MELAS syndrome, with lactic acidosis and neurological impairment, affected by the "classic" 3243A > G mutation of mitochondrial DNA, with kidney cancer. After unilateral nephrectomy, he rapidly developed severe kidney functional impairment, with nephrotic proteinuria. Analysis of the kidney tissue at a distance from the two tumor lesions, sampled at the time of nephrectomy was performed in the context of normal blood pressure, recent onset of diabetes and before the appearance of proteinuria. The morphological examination revealed a widespread interstitial fibrosis with dense inflammatory infiltrate and tubular atrophy, mostly with thyroidization pattern. Vascular lesions were prominent: large vessels displayed marked intimal fibrosis and arterioles had hyaline deposits typical of hyaline arteriolosclerosis. These severe vascular lesions explained the different glomerular alterations including ischemic and obsolescent glomeruli, as is commonly observed in the so-called "benign" arteriolonephrosclerosis. Some rare glomeruli showed focal segmental glomerulosclerosis; as the patient subsequently developed nephrotic syndrome, these lesions suggest that silent ischemic changes may result in the development of focal segmental glomerulosclerosis secondary to nephron loss. Conclusions Nephron loss may trigger glomerular sclerosis, at least in some cases of MELAS-related nephropathy. Thus the incidence of kidney disease in the "survivors" of MELAS syndrome may increase as the support therapy of these patients improves. PMID:22353239

  10. Ragam: Madhyamavathi (22nd Mela (Kharaharapriya) Janyam) ARO: S R2 M1 P N2 S ||

    E-print Network

    Kalyanaraman, Shivkumar

    Karpagame Ragam: Madhyamavathi (22nd Mela (Kharaharapriya) Janyam) ARO: S R2 M1 P N2 S || AVA: S N2: (Courtesy: Ravi Shankar: http://rasikas.org/forum/viewtopic.php?f=11&t=10497 ) Oh karpagAmbikA ("karpagamE: karpakamE (karunai) kaDaikkaN pArAi Oh karpagAmbikA ("karpagamE") of the holy ("tiru") town of myl

  11. 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

  12. Levels of heavy metals in adolescents living in the industrialised area of Milazzo-Valle del Mela (northern Sicily).

    PubMed

    Interdonato, Monica; Bitto, Alessandra; Pizzino, Gabriele; Irrera, Natasha; Pallio, Giovanni; Mecchio, Anna; Cuspilici, Antonino; Minutoli, Letteria; Altavilla, Domenica; 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

  13. 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

  14. 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

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

    PubMed

    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

  16. Clinical Features, Pathophysiology, and Treatment of Levodopa-Induced Dyskinesias in Parkinson's Disease

    PubMed Central

    Guridi, J.; González-Redondo, R.; Obeso, J. A.

    2012-01-01

    Dyskinetic disorders are characterized by excess of motor activity that may interfere with normal movement control. In patients with Parkinson's disease, the chronic levodopa treatment induces dyskinetic movements known as levodopa-induced dyskinesias (LID). This paper analyzed the pathophysiology, clinical manifestations, pharmacological treatments, and surgical procedures to treat hyperkinetic disorders. Surgery is currently the only treatment available for Parkinson's disease that may improve both parkinsonian motor syndrome and LID. However, this paper shows the different mechanisms involved are not well understood. PMID:23125942

  17. 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

  18. 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

  19. 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

  20. 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

  1. Clinical and laboratory features of brucellosis in two university hospitals in Southeast Turkey.

    PubMed

    Kokoglu, Omer Faruk; Hosoglu, Salih; Geyik, Mehmet Faruk; Ayaz, Celal; Akalin, Serife; Buyukbese, Mehmet Akif; Cetinkaya, Ali

    2006-01-01

    This prospective study was carried out in two university hospitals between January 2000 and December 2002. The diagnosis of brucellosis was made with compatible clinical findings, positive Brucella agglutination > or =1/160 titres, and/or the isolation of Brucella species. The patients were followed up without intervention. One hundred and thirty-eight patients with active brucellosis were evaluated. Of the participants, 79 (57.2%) cases were acute, 23 (16.7%) sub-acute and 36 (26.1%) chronic. Brucella melitensis was isolated in the specimens of 24 (26.9%) out of 89 patients. The most frequent symptoms were fever (78.3%), arthralgia (77.5%) and sweating (72.5%). The most common physical findings were fever (40.6%), splenomegaly (36.2%), and hepatomegaly (26.8%). The osteoarticular involvement was found in 64 patients (46.4%). Ten (7.5%) patients had orchiepididymitis. Meningitis, pulmonary involvement, endocarditis, and hepatitis were found in five (3.6%), three (2.1%), two (1.5%) and one (0.7%) patient, respectively. Relative lymphomonocytosis was found in 80 cases (58.8%), anaemia in 46 (33.3%) and leucopoenia in 30 cases (21.7%). Clinical relapse was observed in 14 patients (10.1%). PMID:16483439

  2. 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

  3. Vestibular dysfunction is a clinical feature of the Jervell and Lange-Nielsen Syndrome.

    PubMed

    Winbo, Annika; Rydberg, Annika

    2015-02-01

    Abstract Objectives. To investigate the possible association between Jervell and Lange-Nielsen Syndrome (JLNS) genotype and vestibular dysfunction. Design. In 15 cases with JLNS, clinical data obtained from a semi-structured interview and full medical records were reviewed and post-rotatory nystagmus testing was performed. Results. All genotyped cases (n = 14) had double KCNQ1 mutations. Symptoms of impaired balance were reported in 14/14 deaf JLNS cases. Gross motor developmental delay (not walking without support at 18 months of age) was seen in 11/12 cases with available data (mean age for walking: 24 months). A pathologic post-rotatory test was seen in 9/9 tested subjects, and in 3 subjects clinical testing had been performed showing complete lack of vestibular function. Vestibular dysfunction was seen in deaf JLNS cases with (n = 5) and without (n = 9) cochlear implants, including subjective symptoms (5/5 vs. 9/9) and gross motor developmental delay (5/5 vs. 6/8). Conclusions. We identified a high frequency of symptoms and signs associated with vestibular dysfunction in deaf JLNS cases, irrespective of previous cochlear implantation. Disruption of endolymph homeostasis in the inner ear, including cochlea and vestibular system, by profound KCNQ1 function loss is the proposed mechanism. PMID:25471708

  4. Different mutations at V363 MAPT codon are associated with atypical clinical phenotypes and show unusual structural and functional features.

    PubMed

    Rossi, Giacomina; Bastone, Antonio; Piccoli, Elena; Morbin, Michela; Mazzoleni, Giulia; Fugnanesi, Valeria; Beeg, Marten; Del Favero, Elena; Cantù, Laura; Motta, Simona; Salsano, Ettore; Pareyson, Davide; Erbetta, Alessandra; Elia, Antonio Emanuele; Del Sorbo, Francesca; Silani, Vincenzo; Morelli, Claudia; Salmona, Mario; Tagliavini, Fabrizio

    2014-02-01

    Microtubule-associated protein tau gene (MAPT) is one of the major genes linked to frontotemporal lobar degeneration, a group of neurodegenerative diseases clinically, pathologically, and genetically heterogeneous. In particular, MAPT mutations give rise to the subgroup of tauopathies. The pathogenetic mechanisms underlying the MAPT mutations so far described are the decreased ability of tau protein to promote microtubule polymerization (missense mutations) or the altered ratio of tau isoforms (splicing mutations), both leading to accumulation of hyperphosphorylated filamentous tau protein. Following a genetic screening of patients affected by frontotemporal lobar degeneration, we identified 2 MAPT mutations, V363I and V363A, leading to atypical clinical phenotypes, such as posterior cortical atrophy. We investigated in vitro features of the recombinant mutated tau isoforms and revealed unusual functional and structural characteristics such as an increased ability to promote microtubule polymerization and a tendency to form oligomeric instead of filamentous aggregates. Thus, we disclosed a greater than expected complexity of abnormal features of mutated tau isoforms. Overall our findings suggest a high probability that these mutations are pathogenic. PMID:24018212

  5. Epidemiology and clinical features of cystic hydatidosis in Western Sicily: A ten-year review

    PubMed Central

    Cappello, Elisa; Cacopardo, Bruno; Caltabiano, Eleonora; Li Volsi, Sigismindo; Chiara, Rosa; Sapienza, Mauro; Nigro, Luciano

    2013-01-01

    AIM: To assess retrospectively the epidemiological and clinical aspects of cystic echinococcosis (CE) and to evaluate follow-up and response to treatment in patients affected by CE. METHODS: From January 2000 to December 2010, all patients affected by CE at the Infectious Diseases Units of the University of Catania and of Basilotta Hospital in Nicosia-Enna, were enrolled as participants in the study. Epidemiological, clinical and laboratory data were collected for each patient. Diagnosis of CE was performed using clinical imaging and laboratory parameters. Response to treatment was categorized as follows: “cure” as the disappearance or complete calcification of cyst/s; “improvement” as a reduction in the diameter and/or number of existing cysts; and “impairment” as an increase in the diameter and/or number of existing cyst/s and the onset of relapses (i.e., the onset of new cyst/s and an increase in the diameter of previously existing cyst/s and/or complications. Immunoglobulin E (IgE) titers and eosinophil percentages were evaluated at diagnosis, at six months after the initiation of treatment and again in the case of relapse. Hyper-eosinophilia was defined as an eosinophil percentage of ? 6%. RESULTS: Thirty-two patients were diagnosed with CE in our Unit during the research period, with a male-female ratio of 2:1. At the time of diagnosis, 40% of patients presented a single CE cyst. Sixty percent showed multi-organ involvement. The liver-lung localization ratio was 2:1. Patients below the age of 50 at diagnosis were more likely to have multiple cysts (73.7% vs 35.5%, P < 0.05). Regarding treatment, 30 patients were treated medically and 16 surgically. Fourteen patients were treated both medically and surgically. Relapses were seen to be less frequent in patients treated with albendazole before and after surgery. Complete cure or an improvement was achieved in 23 patients. Impairment was observed in one patient. Two patients showed no improvement. Relapses were more frequent in those patients treated before 2005. At diagnosis, 71% of patients were positive for specific CE IgE, and 56.3% showed an eosinophil percentage of ? 6%. Patients who were diagnosed with hyper-eosinophilia developed complications more frequently than the other patients, but did not suffer relapses. CONCLUSION: On the basis of our results, we propose cystic echinococcosis screening for family members of patients, appropriate pre- and post-surgery treatment and the assessment of anti-echinococcus IgE titer or eosinophil percentage as a therapy response marker in settings with limited resources. PMID:24409062

  6. 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

  7. Associations between liver enzymes, psychopathological and clinical features in eating disorders.

    PubMed

    Lelli, Lorenzo; Castellini, Giovanni; Gabbani, Tommaso; Godini, Lucia; Rotella, Francesco; Ricca, Valdo

    2014-11-01

    Elevated aspartate aminotransferase (AST) and alanine aminotransferase (ALT) levels are frequently reported in patients with anorexia nervosa (AN) and in subjects who are overweight or with hyperlipidemia, which can be found to be associated with binge eating disorder (BED) and bulimia nervosa (BN). Liver functioning and psychopathological features have been evaluated in 43 patients with AN, 33 with BN, and 32 with BED. Body mass index was found to be inversely associated with AST and ALT in AN, and directly associated with AST and ALT in BED. A positive association between ALT and AST and body shape concern in AN was observed. Liver enzymes could be considered as an index of severity in AN and BED patients. PMID:25139759

  8. Clinical features and management of ocular lesions after stings by hymenopteran insects

    PubMed Central

    Siddharthan, K S; Raghavan, Anita; Revathi, R

    2014-01-01

    We describe the ocular alterations and the management after stings from Hymenopteran insects. In all the five patients, the insect was identified as bee. The patients presented with significant corneal edema, which resolved dramatically in three of them after removal of stingers. Among the other two one went for permanent corneal decompensation and the other developed Intumuscent cataract with increased intraocular pressure. Although a rare occurrence, ocular trauma caused by Hymenopteran insects has a potential to cause severe ocular damage in humans. A high level of clinical suspicion and immediate removal of the stingers along with administration of high doses of topical and systemic steroids is a must to prevent chances of permanent corneal damage and intraocular complications. PMID:24618493

  9. Clinical features of 149 patients with facio-auriculo-vertebral spectrum.

    PubMed

    Muñoz-Pedroza, Liliana A; Arenas-Sordo, María L

    2013-01-01

    Facio-Auriculo-Vertebral (FAV) spectrum, also known as Goldenhar syndrome or first and second branchial arch syndrome, is a complex of mainly craniofacial and vertebral anomalies. Microtia is a principal malformation in this complex; it can be unilateral or bilateral. We performed an observational, retrospective, transverse descriptive clinical study, reviewing 149 records of patients with a diagnosis of microtia treated in the Genetics Department. There was no significant difference in the sex of the individuals involved. The mean age was 6.97 years, with a range of 1 to 52 years. We founded positive inbreeding in 14 patients and consanguinity in 1 case. There was a family history of microtia in 37 cases. The most frequent malformations, besides microtia, were facial, costo-vertebral, limb, cardiac, genital, eye and other defects. Patients had a high percentage of family history, which could suggest an autosomal dominant inheritance with reduced penetrance. PMID:23896491

  10. Depression in temporal lobe epilepsy: a review of prevalence, clinical features, and management considerations.

    PubMed

    Garcia, C S

    2012-01-01

    Depression in temporal lobe epilepsy has been established as a frequent occurrence, and various possible mechanisms for this significant comorbidity have been posited. However, there is still little to guide a clinician in the recognition and management of depression in patients with temporal lobe epilepsy. This is in part due to the lack of consistent findings in earlier studies, which was likely partly due to variabilities in methodology, sampling, and diagnosis of both temporal lobe epilepsy and depression. However, in recent years, significant effort has been made to address these issues and provide a framework for diagnosis and management of depression in this population. The following is a review of the literature, with special emphasis on clinical phenomenology of depressive symptoms, described bidirectional risk between depression and temporal lobe epilepsy, and treatment strategies in the context of potential drug interactions with antiepileptic drugs. PMID:22957244

  11. 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.

  12. Severe dental caries as the first presenting clinical feature in primary Sjögren’s syndrome

    PubMed Central

    Ahmadi, Elham; Fallahi, Sasan; Alaeddini, Mojgan; Hasani Tabatabaei, Masoomeh

    2013-01-01

    Background: Sjögren’s syndrome is an autoimmune syndrome involving the exocrine glands specially the salivary and lacrimal glands leading to xerostomia and xerophtalmia. This paper presents a case with primary Sjögren’s syndrome that severe dental caries were the first clinical manifestation. Case Presentation: A 42-year-old man was referred to the School of Dentistry, Tehran University of Medical Sciences due to unexplained severe dental decays. After systematic evaluation and consultation with the rheumatologist and the ophthalmologist, the diagnosis of primary Sjögren’s syndrome was suggested and confirmed by serologic and histopathologic study. Conclusion: Primary Sjögren’s syndrome should be considered in the differential diagnosis of patients with early severe dental caries. PMID:24009970

  13. Chronic mast cell leukemia: a novel leukemia-variant with distinct morphological and clinical features.

    PubMed

    Valent, Peter; Sotlar, Karl; Sperr, Wolfgang R; Reiter, Andreas; Arock, Michel; Horny, Hans-Peter

    2015-01-01

    Mast cell leukemia (MCL) is a rare form of systemic mastocytosis characterized by leukemic expansion of mostly immature mast cells, organ damage, drug-resistance, and a poor prognosis. Even when treated with chemotherapy, most patients have a life-expectancy of less than one year. However, there are rare patients with MCL in whom the condition is less aggressive and does not cause organ damage within a short time. In these patients, mast cells exhibit a more mature morphology when compared to acute MCL. A recently proposed classification suggests that these cases are referred to as chronic MCL. In the present article, we discuss clinical, histopathological and morphological aspects of acute and chronic MCL. PMID:25443885

  14. Clinical features and drug induced side effects in early versus late antidepressant responders.

    PubMed

    Fabbri, Chiara; Marsano, Agnese; Balestri, Martina; De Ronchi, Diana; Serretti, Alessandro

    2013-10-01

    Early antidepressant response (2nd week) has been reported as the result of a true antidepressant effect and a predictor of subsequent stable response. With the purpose to study the clinical profile of early response/remission (2nd week) compared to late response/remission (4th-6th weeks), two independent major depressive disorder (MDD) samples (the Sequenced Treatment Alternatives to Relieve Depression or STAR*D n=1922 and an Italian sample n=171) were investigated. Patients were treated with citalopram in the STAR*D while in a naturalistic setting in the Italian sample. Depressive symptomatology was assessed by the Hamilton Depressive Rating Scale weekly in the Italian sample and biweekly by the Quick Inventory of Depressive Symptomatology Clinician Rated in the STAR*D. Logistic regression was used to investigate possible predictors of early response and the Bonferroni correction was applied. In the STAR*D, higher levels of baseline core depressive symptoms (Bech subscale) were associated with early response (p=0.00017), as well as lower baseline insomnia (p=0.003) and higher work and social functioning (p=0.001). In the Italian sample none of these variables were associated with the phenotype, but a non significant trend of lower baseline quality of life (p=0.078) was observed in late remitters. In the STAR*D late responders reported higher levels of antidepressant induced side effects, especially difficulty in sleeping (p=5.68e-13), with a non significant trend in the same direction in the Italian sample (p=0.09). The identification of late versus early antidepressant responders at the beginning of the treatment may be useful to guide therapeutic choices in clinical settings. PMID:23800418

  15. 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

  16. Obsessive-compulsive and eating disorders: comparison of clinical and personality features.

    PubMed

    Jiménez-Murcia, Susana; Fernández-Aranda, Fernando; Raich, Rosa M; Alonso, Pino; Krug, Isabel; Jaurrieta, Nuria; Alvarez-Moya, Eva; Labad, Javier; Menchón, Jose M; Vallejo, Julio

    2007-08-01

    The aim of the present study was to determine whether anorexia nervosa (AN), bulimia nervosa (BN) and obsessive-compulsive disorder (OCD) share clinical and psychopathological traits. The sample consisted of 90 female patients (30 OCD; 30 AN; 30 BN), who had been consecutively referred to the Department of Psychiatry, University Hospital of Bellvitge, Barcelona. All subjects met DSM-IV criteria for those pathologies. The assessment consisted of the Maudsley Obsessive-Compulsive Inventory (MOCI), Questionnaire of obsessive traits and personality by Vallejo, Eating Attitudes Test-40 (EAT-40), Eating Disorder Inventory (EDI), and Beck Depression Inventory (BDI). ANCOVA tests (adjusted for age and body mass index) and multiple linear regression models based on obsessive-compulsiveness, obsessive personality traits and perfectionism, as independent variables, were applied to determine the best predictors of eating disorder severity. On ancova several significant differences were found between obsessive-compulsive and eating-disordered patients (MOCI, P < 0.001; EAT, P < 0.001; EDI, P < 0.001), whereas some obsessive personality traits were not eating disorder specific. A total of 16.7% OCD patients presented a comorbid eating disorder, whereas 3.3% eating disorders patients had an OCD diagnosis. In the eating disorder group, the presence of OC symptomatology was positively associated (r = 0.57, P < 0.001) with the severity of the eating disorder. The results were maintained after adjusting for comorbidity. Although some obsessive-compulsive and eating disorder patients share common traits (e.g. some personality traits especially between OCD and AN), both disorders seem to be clinically and psychopathologically different. PMID:17610663

  17. [Allergic fungal sinusitis--new aspects of clinical features, laboratory diagnosis and therapy].

    PubMed

    Arsenijevi?, Valentina Arsi?; Bara?, Aleksandra; Pekmezovi?, Marina; Stosovi?, Rajica; Pender, Ivica

    2013-01-01

    Allergic fungal sinusitis (AFS) is a chronic non-invasive disease. Hypersensitive immune response is usually initiated by allergens of filamentous fungi Aspergillus, Penicillium, Cladosporium, Fusarium, Bipolaris, Curvularia and Alternaria. AFS is a clinical and immune analogue of the allergic bronchopulmonary aspergillosis (ABPA) as the sinus exudate resembles that of the bronchoalveolar lavage (BAL) in ABPA. Patients with AFS are usually immunocompetent, atopic and males. The most common symptoms are headache, fullness in the paranasal sinuses, and difficult breathing through the nose. Clinically, there is a chronic mucosal inflammation and histopathologic finding shows allergic mucin and eosinophils. Specific staining methods, Gomori's Methenamine Silver (GMS) or periodic acid-Schiff (PAS), are used for microscopic visualisation of hyphae, which are, in addition to the isolated fungi, most reliable evidence of AFS. Computerized tomography (CT) of paranasal sinuses shows the areas of hyperdensity. In cases where AFS is complicated by the erosion of bone tissue, discontinuation of the sinus bone wall can be seen. Significant laboratory finding, which correlate highly with the AFS, are high immunoglobulin E (IgE) antibodies specific for fungi, detected by the skin prick test or in serum. Treatment is often surgical, and after removal of the allergic mucin, therapy involves oral and nasal corticosteroids, immunotherapy and locally applied antimycotics (with verified fungal etiology). During treatment, the total/specific IgE is monitored--concentration increases with the development of AFS, and decreases during the improvement process. Knowledge of the pathophysiological mechanisms of AFS is scarce, and represents the focus of further research in order to define an optimal diagnostic and therapeutic approach. PMID:24364238

  18. Trisomy 18 in neonates: prenatal diagnosis, clinical features, therapeutic dilemmas and outcome.

    PubMed

    Goc, Barbara; Walencka, Zofia; W?och, Agata; Wojciechowska, Ewa; Wiecek-W?odarska, Danuta; Krzystolik-?adzi?ska, Joanna; Bober, Klaudiusz; Swietli?ski, Janusz

    2006-01-01

    The study aimed to analyse the clinical courses of aggressively treated neonates with cytogenetically confirmed trisomy 18, with special attention focused on the efficiency of prenatal diagnostics, associated malformations, therapeutic dilemmas and outcomes. We investigated retrospectively the data concerning 20 neonates with trisomy 18, admitted to the Neonatal Intensive Care Unit (NICU) in Katowice between January 2000 and February 2005. Their birth weights ranged from 650 g to 2400 g, mean 1812 g; gestational age ranged from 27 to 42 weeks, median 38 weeks. Intrauterine growth retardation was noticed in 90% of neonates. Trisomy 18 was suspected prenatally in 40% of cases. Most (80%) of newborns were delivered by caesarean section (92% of neonates with prenatally unrecognized chromosomal defects, 62% of neonates with trisomy 18 suspicion) and 70% of infants needed respiratory support immediately after birth. Cardiac defects were present in 95%, central nervous system malformations in 65%, severe anomalies of digestive system or abdominal wall in 25% of patients. Nine surgical operations were performed during hospitalization (4 were palliative cardiac surgeries). Six patients (30%) survived the neonatal period and were discharged from the NICU. The median survival of the neonates who died was 20 days. In 4 cases cardiac problems implicated their death; in others, deaths were attributed to multiorgan failure, prematurity and/or infection. Further improvement of efficiency of prenatal ultrasound screening for diagnosis of trisomy 18 in the fetus is necessary. A lack of prenatal diagnosis of trisomy 18 in the fetus results in a high rate of unnecessary caesarean sections in these pregnancies. Despite the aggressive treatment most neonates with trisomy 18 died during the neonatal period. The majority of deaths were attributed to cardiorespiratory and multiorgan failure. Concerning the poor prognosis, prompt karyotyping (using FISH) of clinically suspected trisomy 18 is very important, because many invasive procedures and surgeries may then be avoided. PMID:16682759

  19. 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.

  20. Clinical features of HTLV-1-associated myelopathy/tropical spastic paraparesis (HAM/TSP) in northeast Iran.

    PubMed

    Shoeibi, Ali; Rafatpanah, Houshang; Azarpazhooh, Amir; Mokhber, Naghme; Hedayati-Moghaddam, Mohammad Reza; Amiri, Amin; Hashemi, Peyman; Foroghipour, Mohsen; Hoseini, Reza Farid; Bazarbachi, Ali; Azarpazhooh, Mahmoud Reza

    2013-12-01

    This study aimed to introduce clinical manifestations of patients in northeast Iran with HTLV-1-associated myelopathy/tropical spastic paraparesis (HAM/TSP) and describe the epidemiological features, as well as risk factors for HTLV-1 infection. This is a cross-sectional study of HTLV-1 infected cases and HAM/TSP patients referred by outpatient neurology clinics as well as Mashhad Blood Transfusion Center from 2005 to 2010. The study comprises 513 cases, including 358 healthy carriers (HCs) and 145 HAM/TSP patients. The majority of carriers were male (73.5%), whereas 67.6% of HAM/TSP sufferers were female (P < 0.001). The mean age of HAM/TSP patients and HCs was 45.9 ± 13.6 and 39.5 ± 11.58 years, respectively (P < 0.001). The history of transfusion, surgery, hospitalization and cupping was observed in a significant greater number of HAM/TSP patients than the HCs (P < 0.001, P < 0.001, P < 0.001 and P = 0.029, respectively). Gait disturbance was the most common complaint in HAM/TSP patients (72.4%). This research develops an HTLV-1 data registry in an endemic area such as Mashhad which can serve useful purposes, including evaluation of clinical and laboratory characteristics of HAM/TSP patients and epidemiological data of HTLV-1-infected cases. PMID:23568138