Sample records for melas clinical features

  1. Renal involvement in MELAS syndrome - a series of 5 cases and review of the literature.

    PubMed

    Seidowsky, Alexandre; Hoffmann, Maxime; Glowacki, François; Dhaenens, Claire-Marie; Devaux, Jean-Philippe; de Sainte Foy, Celia Lessore; Provot, François; Gheerbrant, Jean-Dominique; Hummel, Aurelie; Hazzan, Marc; Dracon, Michel; Dieux-Coeslier, Anne; Copin, Marie-Christine; Noël, Christian; Buob, David

    2013-12-01

    Renal dysfunction is increasingly recognized as a potential clinical feature of mitochondrial cytopathies such as mitochondrial encephalomyopathy, lacticacidosis and stroke-like episodes (MELAS) syndrome. Five cases of MELAS syndrome with renal involvement from 4 unrelated families are presented in this case series. Three of the 5 patients had a history of maternally-inherited diabetes and/or deafness. Focal and segmental glomerulosclerosis and arteriolar hyaline thickening were the most striking findings on renal biopsy. In addition to clinical presentation with the typical symptoms of MELAS syndrome, genetic testing in these patients identified the A3243G point mutation in the tRNALeu gene of the mitochondrial DNA (mtDNA). The diagnosis of MELAS syndrome was thus considered to be unequivocal. The incidence of kidney disease in MELAS syndrome may be underestimated although a study is required to investigate this hypothesis. As the A3243G mtDNA mutation leads to a progressive adult-onset form of focal segmental glomerulosclerosis (FSGS), screening for the MELAS A3243G mtDNA mutation should therefore be performed especially in patients with maternally-inherited diabetes or hearing loss presenting with FSGS. PMID:22909780

  2. Molecular neuropathology of MELAS: level of heteroplasmy in individual neurones and evidence of extensive vascular involvement.

    PubMed

    Betts, J; Jaros, E; Perry, R H; Schaefer, A M; Taylor, R W; Abdel-All, Z; Lightowlers, R N; Turnbull, D M

    2006-08-01

    Mitochondrial DNA (mtDNA) disease is an important genetic cause of neurological disability. A variety of different clinical features are observed and one of the most common phenotypes is MELAS (Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis and Stroke-like episodes). The majority of patients with MELAS have the 3243A>G mtDNA mutation. The neuropathology is dominated by multifocal infarct-like lesions in the posterior cortex, thought to underlie the stroke-like episodes seen in patients. To investigate the relationship between mtDNA mutation load, mitochondrial dysfunction and neuropathological features in MELAS, we studied individual neurones from several brain regions of two individuals with the 3243A>G mutation using dual cytochrome c oxidase (COX) and succinate dehydrogenase (SDH) histochemistry, and Polymerase Chain Reaction Restriction Fragment Lenght Polymorphism (PCR-RFLP) analysis. We found a low number of COX-deficient neurones in all brain regions. There appeared to be no correlation between the threshold level for the 3243A>G mutation to cause COX deficiency within single neurones and the degree of pathology in affected brain regions. The most severe COX deficiency associated with the highest proportion of mutated mtDNA was present in the walls of the leptomeningeal and cortical blood vessels in all brain regions. We conclude that vascular mitochondrial dysfunction is important in the pathogenesis of the stroke-like episodes in MELAS patients. As migraine is a commonly encountered feature in MELAS, we propose that coupling of the vascular mitochondrial dysfunction with cortical spreading depression (CSD) might underlie the selective distribution of ischaemic lesions in the posterior cortex in these patients. PMID:16866982

  3. 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.

  4. 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

  5. [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

  6. Particular features of clinical pellagra.

    PubMed

    Dumitrescu, C; Lichiardopol, R

    1994-01-01

    The follow-up of an important number of patients during the last three decades has shown a substantial difference between the clinical description of pellagra in the 40's (the triad: dermatitis, diarrhea, dementia) and its clinical aspects today: sun-exposed teguments revealing erythema and rapidly becoming pigmented and parchment like, dried, parched lips, angular stomatitis, lead like sclera fine cornea vascularization; gastro-intestinal disturbances: constipation, unjustified diarrhea, strange migratory abdominal feelings accompanied by ubiquitous dysesthesias. Other characteristics of this form of disease are: unexpressive look, continuously concerned, thoughtful, anxious or frowning, labile mind, headaches, insomnia. Villager's neurosis sometimes may be considered, in an appropriate clinical context, as a facet of nutritional deficiency. It is considered that the "classical" features of pellagra have changed due to: protein ingestion slightly below the lowest normal limit, decrease of strenuous physical activity and some associated diseases (frequently gastrointestinal disorders, chronic alcoholism). PMID:7920332

  7. Clinical features of anterior bradyrhythmia.

    PubMed

    Shiohama, N; Shinomiya, S; Nagaoka, M

    1993-10-01

    The present study examined the clinical significance of anterior bradyrhythmia (AB), which was described by Gibbs and Gibbs in 1964. The significance of AB in this report was indefinite because of unclear criteria and underdeveloped neuroradiology. We proposed a set of criteria of AB and reevaluated the clinical significance of the EEG pattern in correlation with the clinical and the computerized topography (CT) findings of the patients. The study material was 4019 EEGs examined in our laboratory during a 1-year period (1991). AB was recorded in 20 patients (0.5%), whose mean age was 69.8 years. Its incidence tended to increase with age. Sixteen patients [table: see text] (80%) had dementia and were classified into two types according to clinical features, as Binswanger (B)-type and Alzheimer (A)-type. B-type patients had gait disturbance, urinary incontinence, hemiparesis, and ECG abnormalities, and showed leuko-araiosis on CT. A-type patients had only dementia, and showed frontoparietal atrophy on CT. Delirium was found in 7 (35%) out of the 20 patients with AB, which may be an additional factor related to the appearance of the EEG pattern. B-type had lower frequency of AB than A-type. Both types showed slowed background activities; the alpha rhythm of B-type had lower frequency and tended to have higher amplitude than that of A-type. These EEG abnormalities may be indicative of subcortical or cortical dysfunction in the frontal areas. PMID:8261643

  8. Clinical features of eosinophilic esophagitis.

    PubMed

    Miehlke, Stephan

    2014-01-01

    Eosinophilic esophagitis (EoE) may affect individuals at any age with a predominance for Caucasian males. The clinical manifestation of EoE is strongly age dependent. While dysphagia and food impaction are typical lead symptoms in adults and adolescents, infants often present with unspecific symptoms such as feeding problems, abdominal pain and vomiting. Some EoE patients may also experience heartburn. Therefore, EoE should always be considered in cases of heartburn refractory to antireflux therapy. Concomitant allergic diseases such as asthma, rhinitis and eczema are prevalent. Peripheral eosinophilia and elevated total serum IgE values are found in up to 50 and 70% of cases, respectively. Endoscopic features of EoE are variable and none of them is pathognomonic. Frequent findings are mucosal edema, furrows, exudates and corrugated rings. These endoscopic abnormalities have high specificities (90-95%), but low sensitivities (15-48%). A novel grading and classification system for the endoscopic assessment of EoE has been proposed which includes fixed rings, exudates, furrows and edema as major features. This classification system demonstrated good interobserver agreement among pediatric and adult gastroenterologists, and presents a useful tool to standardize endoscopic assessments and to further investigate the relation between endoscopic manifestation, clinical activity and response to treatment in EoE. Long-term follow-up studies have shown that EoE is a chronic disease causing recurrent dysphagia in the majority of cases. The prevalence of strictures significantly increases with the duration of disease, which stresses the importance of early diagnosis and consequent treatment of EoE. PMID:24603382

  9. [Clinical features of corticobasal degeneration].

    PubMed

    Farsang, Marianna; Takáts, Annamária; Szirmai, Imre; Kovács, Tibor

    2005-01-20

    Corticobasal degeneration was described in 1968 by Rebeiz, Kolodny and Richardson, who characterized the disease as a syndrome of asymmetric akinesis and rigidity, dystonia of the upper limb, apraxia, myoclonus and dementia. Atrophy of the frontal and parietal lobe, neuronal loss, gliosis and achromatic neurones (and nowadays astrocytic plaques) are the characteristic pathological features of the disease. Corticobasal degeneration is a rare or a rarely recognized disease and it is frequently misdiagnosed as Parkinson's disease. According to the Lang's criteria, corticobasal degeneration can be diagnosed in the presence of rigidity and one cortical symptom (apraxia, cortical sensory loss, alien hand) or in a patient with rigidity, dystonia and focal reflex myoclonus. Exclusion criteria are early dementia (as in primary degenerative dementias), early vertical gaze problems (as in progressive supranuclear palsy), resting tremor and good, sustained therapeutic response to levodopa (as in Parkinson's disease), severe autonomic problems (as in multiple system atrophy) and any pathology on imaging studies which might explain the clinical symptoms. It should be mentioned, that recently early dementia is recognized as an initial symptom of corticobasal degeneration. The authors present a case and review the literature to call attention to this disorder. PMID:15884398

  10. [MELAS syndrome as a differential diagnosis of ischemic stroke].

    PubMed

    Finsterer, J

    2009-01-01

    Mitochondrial encephalomyopathy, lactacidosis and stroke-like episode (MELAS) syndrome is a phenotypically and genetically heterogeneous mitochondrial disorder with a clinical onset between the first and third decade. The clinical hallmark is the stroke-like-episode, which mimicks ischemic stroke but is usually transient and non-disabling in nature. The morphological equivalent on MRI is a T2-hyperintensity, predominantly over the temporo-parieto-occipital region, not confined to a vascular territory, which is also hyperintense on diffusion weighted imaging and on apparent diffusion coefficient sequences (vasogenic edema, stroke-like lesion). Additional features include seizures, cognitive decline, psychosis, lactic acidosis, migraine, visual impairment, hearing loss, short stature, diabetes, or myopathy. Muscle biopsy typically shows ragged-red fibers, COX-negative fibers, SDH hyperreactivity, and abnormally shaped mitochondria with paracristalline inclusions. The diagnosis is confirmed by demonstration of a biochemical respiratory chain defect or one of the disease-causing mutations, of which 80 % affect the mitochondrial tRNALeu gene. PMID:19012224

  11. 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.

  12. Calciphylaxis: diagnosis and clinical features.

    PubMed

    Hayashi, Matsuhiko

    2013-08-01

    Calciphylaxis is a relatively rare disease, observed mainly in patients on dialysis, associated with high mortality rates, and characterized by painful skin ulceration. The pathogenesis of calciphylaxis is virtually unknown, although several risk factors, including warfarin therapy, hypoalbuminemia, and disturbances in calcium-phosphate metabolism, have been reported. The prevalence of calciphylaxis in Japan is likely to be less than 1:10,000 dialysis patients per year based on our nationwide survey in 2009. However, the results of the survey also showed that about 60 % of nephrologists in Japan are not familiar with the disease itself and it is highly likely that calciphylaxis is being overlooked. To facilitate recognition of calciphylaxis, we have proposed diagnostic criteria. At present, there is no specific therapy for calciphylaxis and general supportive measures, especially antibiotics for the accompanying infection and wound care, are important. Recently, sodium thiosulfate has been increasingly used to treat calciphylaxis and its efficacy should be evaluated by large clinical trials. PMID:23430392

  13. Clinical features of symptomatic Rathke's cleft cyst

    Microsoft Academic Search

    Mitsuo Isono; Tohru Kamida; Hidenori Kobayashi; Tsuyoshi Shimomura; Junko Matsuyama

    2001-01-01

    To investigate the clinical features of Rathke's cleft cysts (RCCs), we retrospectively analyzed 15 cases with histologically confirmed RCCs. All patients underwent formal testing of visual field, endocrinological evaluation and magnetic resonance imagings. As overall presenting symptoms, endocrine disturbance was the most common symptoms, followed by visual disturbance and headache. Among the endocrine disturbances based on adenohypophysial dysfunction, hyperprolactinemia was

  14. Neuromyelitis optica: clinical features, immunopathogenesis and treatment

    PubMed Central

    Jarius, S; Wildemann, B; Paul, F

    2014-01-01

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

  15. The clinical features of rheumatoid arthritis.

    PubMed

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

    1998-05-01

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

  16. Uterine sarcomas: clinical presentation and MRI features

    PubMed Central

    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

  17. 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

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

    PubMed

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

    2011-05-01

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

  19. Melas 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.

  20. 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

  1. Catatonia in Psychotic Patients: Clinical Features and Treatment Response

    PubMed Central

    England, Mary L.; Öngür, Dost; Konopaske, Glenn T.; Karmacharya, Rakesh

    2012-01-01

    We report clinical features and treatment response in 25 patients with catatonia admitted to an inpatient psychiatric unit specializing in psychotic disorders. ECT, benzodiazepines, and clozapine had beneficial effects on catatonic features, while typical antipsychotics resulted in clinical worsening. PMID:21677256

  2. 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…

  3. Clinical and Laboratory Features of Mycobacterium porcinum†

    PubMed Central

    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

    2004-01-01

    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 33776T) 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 33776T. 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°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 33776T 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

  4. Pathophysiology and clinical features of Wilson disease.

    PubMed

    Ferenci, Peter

    2004-12-01

    Wilson disease is an autosomal recessive inherited disorder of copper metabolism resulting in pathological accumulation of copper in many organs and tissues. ATP7B is the gene product of the Wilson disease gene located on chromosome 13 and resides in hepatocytes in the trans-Golgi network, transporting copper into the secretory pathway for incorporation into apoceruloplasmin and excretion into the bile. Mutations of the gene result in impaired trafficking of copper in and through the hepatocytes. More than 200 mutations of Wilson disease gene were found, the most common ones being H1069Q (in Europe) and R778L (in Asia). Wilson disease may present under a variety of clinical conditions, commonly as liver and/or neuropsychiatric disease. The pathogenesis of hepatic and neurologic Wilson disease is a direct consequence of copper accumulation. Presence of copper causes oxidative stress resulting in cell destruction. The diagnosis of Wilson disease requires a combination of a variety of clinical symptoms, biochemical tests, and detection of gene mutations, which are the basis of a score proposed by a group of international experts. Initial treatment for symptomatic patients should include a chelating agent (penicillamine or trientine). Treatment of presymptomatic patients or maintenance therapy can also be accomplished with zinc. PMID:15554419

  5. Dengue illness: clinical features and pathogenesis.

    PubMed

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

    2007-06-01

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

  6. 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

  7. [Calcific uremic arteriolopathy: clinical features and treatment].

    PubMed

    Kudumija, Boris; Knotek, Mladen; Pavlovi?, Drasko; Dits, Sonja

    2015-01-01

    Calcific uremic arteriolopathy or alciphylaxis is a malignant form of calcification of small arteries and arterioles, usually present in patients with chronic kidney disease and dialysis therapy. It causes high mortality. Histological distinctive feature are calcium deposits lining vascular intima. Calcification of medial muscle layer, inflammation and necrosis of subcutaneous adipose tissue are frequent. The disease begins with painful violaceous mottling, resembling livedo reticularis. Ths skin lesion progresses to ulcers and eschars, sometimes it becomes very vulnerable to secondary infection which can often develop into fatal sepsis. Our first patient with proximal form of calciphylaxis dies in repeated sepsis. The second patient with the distal form of calciphylaxis was treated successfully. The decisive moment was the use of calcimimetic. A multiinterventional strategy is likely to be more effective than any single therapy. It is necessary to regulate metabolism of calcium phosphate and secondary hyperparathyroidism. Effectiveness has been demonstrated using calcimimetics, sodium thiosulfate, oxygen therapy, careful application of biphosphonates and surgical procedures. Warfarin withdrawal is urgently recommended and subsequent vitamin K supplementation is appropriate. The control of infection is critically important and the use of carbonylated hemoglobin in the stage without infections could accelerate the wound healing. PMID:26065286

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

    PubMed

    Yamamoto, Tetsuya

    2010-10-01

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

  9. Mitochondrial encephalomyopathy: variable clinical expression within a single kindred.

    PubMed Central

    Crimmins, D; Morris, J G; Walker, G L; Sue, C M; Byrne, E; Stevens, S; Jean-Francis, B; Yiannikas, C; Pamphlett, R

    1993-01-01

    The clinical manifestations of mitochondrial encephalomyopathy are described in four generations of a single kindred. The age of onset of major neurological disturbance varied from 3-70 years. In some patients, deafness was the only manifestation; in others, recurrent bouts of status epilepticus associated with focal neurological deficits and headache, caused severe disability or death. Examples of all three adult forms of mitochondrial encephalomyopathy: MELAS, MERFF and Kearns Sayre syndrome, were represented within the kindred. Associated features included deafness, short stature, non-insulin-dependent diabetes mellitus, migraine, peptic ulceration and severe constipation. The nt 3243 A-G MELAS mutation was detected in two members of the kindred. This study highlights the diversity of clinical expression of a mitochondrial mutation within a single kindred. Images PMID:8350109

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

    PubMed

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

    1992-07-01

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

  11. Melanoma in situ: Part I. Epidemiology, screening, and clinical features.

    PubMed

    Higgins, H William; Lee, Kachiu C; Galan, Anjela; Leffell, David J

    2015-08-01

    The incidence of melanoma has steadily increased over the past 3 decades, with melanoma in situ comprising a disproportionately high percentage of the rising incidence. Our understanding of melanoma in situ has been shaped by epidemiologic and clinical studies. Central to a review of melanoma in situ is a focus on its epidemiology, pathology, biologic behavior, treatment, and clinical outcome, which may differ significantly from that of malignant melanoma. Part I of this continuing medical education article reviews the epidemiology, risk factors, and clinical features of melanoma in situ; part II covers the histopathology, treatment options, and clinical management. PMID:26183967

  12. Wolff-Parkinson-White Syndrome in Patients With MELAS

    Microsoft Academic Search

    Douglas M. Sproule; Petra Kaufmann; Kristen Engelstad; Thomas J. Starc; Allan J. Hordof; Darryl C. De Vivo

    2007-01-01

    Background: Tissues with high energy demands, such as the heart, are susceptible to the effects of mitochon- drial DNA point mutations. Objective: To investigate the frequency of Wolff- Parkinson-White(WPW)syndromeamongaphenotypi- cally and genotypically homogeneous cohort of patients with MELAS (mitochondrial encephalopathy, lactic aci- dosis, and strokelike episodes) and the A3243G muta- tion most commonly associated with MELAS syndrome. Design: Survey. hair

  13. Ontology-guided feature engineering for clinical text classification.

    PubMed

    Garla, Vijay N; Brandt, Cynthia

    2012-10-01

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

  14. Clinical features and visual outcomes of Japanese patients with scleritis

    Microsoft Academic Search

    H. Keino; T. Watanabe; W. Taki; C. Nakashima; A. A. Okada

    2010-01-01

    PurposeTo analyse clinical features, systemic associations, treatment and visual outcomes in Japanese patients with scleritis.MethodsClinical records of 83 patients with scleritis who presented between 1998 and 2008 to the Ocular Inflammation Service of the Kyorin Eye Center, Tokyo, were reviewed.ResultsOf the 83 patients, 57 (69%) had diffuse anterior scleritis, 9 (11%) had nodular anterior scleritis, 8 (10%) had necrotising anterior

  15. 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

  16. Clinical features and management of two cases of encephalitis lethargica

    Microsoft Academic Search

    Stavia B. Blunt; Nora Turjanski; G. David Perkin

    1997-01-01

    Summary: Two patients with presumed encephalitis le- thargica are presented with clinical features suggestive of two forms of the disease described by Von Economo: One patient had a psychosis and a mute-akinetic syndrome associated with myoclonus. The second patient presented with a psychosis and fever, developing severe dyskinesias involving the mouth, trunk and limbs, together with respira- tory irregularities and

  17. 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.

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

    PubMed Central

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

    2015-01-01

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

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

    PubMed Central

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

    2015-01-01

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

  20. Neurophysiological features in relation to clinical signs in clinically diagnosed corticobasal degeneration

    Microsoft Academic Search

    D. Monza; C. Ciano; V. Scaioli; P. Soliveri; F. Carella; G. Avanzini; F. Girotti

    2003-01-01

    .   We investigated the association between clinical and neurophysiological characteristics in patients with a clinical diagnosis\\u000a of probable corticobasal degeneration (CBD), and searched for neurophysiological features supporting the diagnosis in life.\\u000a Ten patients with clinically probable CBD underwent comprehensive neurological evaluation and brain MRI. Long latency reflexes\\u000a (LLR), upper limb somatosensory (SEP) and motor evoked (MEP) potentials were recorded. The

  1. 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

  2. Clinical features of X-linked nephrolithiasis in childhood

    Microsoft Academic Search

    Valerie Langlois; Chantale Bernard; Steven J. Scheinman; Rajesh V. Thakker; Jeremy P. D. Cox; Paul R. Goodyer

    1998-01-01

    .   X-linked recessive nephrolithiasis (XRN) is a rare hereditary form of progressive renal failure characterized by (1) proximal\\u000a tubular dysfunction and low molecular weight proteinuria; (2) hypercalciuria with nephrocalcinosis and nephrolithiasis. Because\\u000a the clinical features are non-specific and variable, affected families in different parts of the world were initially thought\\u000a to have several distinct syndromes. However, positional cloning of the

  3. Acute Lymphocytic Leukemia – Clinical Features and Making the Diagnosis

    Microsoft Academic Search

    Olga Frankfurt; LoAnn Petersen; Martin S. Tallman

    \\u000a The clinical presentation of acute lymphocytic leukemia (ALL) may range from insidious nonspecific symptoms to severe acute\\u000a life-threatening manifestations, reflecting the extent of bone marrow involvement and degree of extramedullary spread (Table\\u000a 2.1). In younger patients anemia-induced fatigue may be the only presenting feature. Dyspnea, angina, dizziness, and lethargy\\u000a may reflect the degree of anemia in older patients presenting with

  4. Difference of clinical features in childhood Mycoplasma pneumoniae pneumonia

    Microsoft Academic Search

    You-Sook Youn; Kyung-Yil Lee; Ja-Young Hwang; Jung-Woo Rhim; Jin-Han Kang; Joon-Sung Lee; Ji-Chang Kim

    2010-01-01

    BACKGROUND: M. pneumoniae pneumonia (MP) has been reported in 10-40% of community-acquired pneumonia cases. We aimed to evaluate the difference of clinical features in children with MP, according to their age and chest radiographic patterns. METHODS: The diagnosis of MP was made by examinations at both admission and discharge and by two serologic tests: the indirect microparticle agglutinin assay (?1:40)

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

    Microsoft Academic Search

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

    2012-01-01

    BackgroundMorgellons 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.MethodsA 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

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

    NASA Astrophysics Data System (ADS)

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

    2015-05-01

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

  7. Clinical features of drug abuse that reflect genetic risk

    PubMed Central

    Kendler, K. S.; Ohlsson, H.; Sundquist, K.; Sundquist, J.

    2014-01-01

    Background Drug abuse (DA) is a clinically heterogeneous syndrome. Can we, in a large epidemiological sample, identify clinical features of DA cases that index genetic risk? Method Using registration in medical, legal or pharmacy records, we identified four kinds of relative pairs (n =935854) starting with a proband with DA: monozygotic co-twins; full siblings; half-siblings; and cousins. Using linear hazard regression, we examined the interaction between three clinical features of DA in the proband and risk for DA in these four relative pairs, ordered by degree of genetic relationship. Results Increased risk for DA in relatives was robustly predicted by early age at first registration, total number of registrations, and ascertainment in the criminal versus the medical or pharmacy registry. In multivariate models, all three of these variables remained significant and in aggregate strongly predicted DA risk in relatives. The risk for DA in siblings of DA probands in the highest decile of genetic risk predicted by our three indices was more than twice as great as that predicted in siblings of probands in the lowest decile of risk. Conclusions In an epidemiological sample, genetic risk for DA can be substantially indexed by simple clinical and historical variables. PMID:24461082

  8. Psoriatic arthritis: epidemiology, clinical features, course, and outcome

    PubMed Central

    Gladman, D; Antoni, C; Mease, P; Clegg, D; Nash, P

    2005-01-01

    Psoriatic arthritis (PsA) has been defined as a unique inflammatory arthritis associated with psoriasis. Its exact prevalence is unknown, but estimates vary from 0.3% to 1% of the population. The clinical features described initially are recognised by most experienced clinicians, although they are most distinct in early disease. Initially, PsA typically presents as an oligoarticular and mild disease. However, with time PsA becomes polyarticular, and it is a severe disease in at least 20% of patients. Patients with PsA who present with polyarticular disease are at risk for disease progression. In addition to progression of clinical and radiological damage, health related quality of life is reduced among patients with PsA. It important to note that patients included in recent drug trials resemble patients followed prospectively in a clinic. PMID:15708927

  9. 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

  10. Genetic isolation within the malaria mosquito Anopheles melas.

    PubMed

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

    2012-09-01

    Anopheles melas is a brackish water-breeding member of the Anopheles 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 analysed 15 microsatellite markers and 1161 bp of mtDNA in 11 A. melas populations collected throughout its range. Compared with its sibling species A. gambiae, A. melas populations have a high level of genetic differentiation between them, representing its patchy distribution due to its fragmented larval habitat that 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 A. melas clusters is on par with levels of divergence between other species of the A. 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 A. 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 bp). This study has exposed species-level genetic divergence within A. melas and also has implications for control of this malaria vector. PMID:22882458

  11. 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

  12. 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

  13. Clinical and radiological feature of lymphoepithelial cyst of the pancreas

    PubMed Central

    Terakawa, Hirofumi; Makino, Isamu; Nakagawara, Hisatoshi; Miyashita, Tomoharu; Tajima, Hidehiro; Kitagawa, Hirohisa; Fujimura, Takashi; Inoue, Dai; Kozaka, Kazuto; Gabata, Toshifumi; Ohta, Tetsuo

    2014-01-01

    A lymphoepithelial cyst (LEC) of the pancreas is a rare benign lesion. Because patients with LEC of the pancreas have a good prognosis, it is important that these lesions are accurately differentiated from other more aggressive pancreatic neoplasms for an appropriate treatment strategy. Previous studies have reported that a definitive diagnosis of LEC often cannot be obtained based solely on the findings of preoperative imaging (e.g., Computed tomography or Magnetic resonance imaging). In this study, we reviewed four cases of pancreatic LECs to investigate the feature of LECs. We reviewed these cases with regard to symptoms, imaging findings, surgical procedures, and other clinical factors. We found that LEC was associated with unique characteristics on imaging findings. A preoperative diagnosis of LEC may be possible by comprehensively evaluating its clinical and imaging findings. PMID:25493042

  14. Clinical features and pathophysiology of complex regional pain syndrome.

    PubMed

    Marinus, Johan; Moseley, G Lorimer; Birklein, Frank; Baron, Ralf; Maihöfner, Christian; Kingery, Wade S; van Hilten, Jacobus J

    2011-07-01

    A complex regional pain syndrome (CRPS)--multiple system dysfunction, severe and often chronic pain, and disability--can be triggered by a minor injury, a fact that has fascinated scientists and perplexed clinicians for decades. However, substantial advances across several medical disciplines have recently improved our understanding of CRPS. Compelling evidence implicates biological pathways that underlie aberrant inflammation, vasomotor dysfunction, and maladaptive neuroplasticity in the clinical features of CRPS. Collectively, the evidence points to CRPS being a multifactorial disorder that is associated with an aberrant host response to tissue injury. Variation in susceptibility to perturbed regulation of any of the underlying biological pathways probably accounts for the clinical heterogeneity of CRPS. PMID:21683929

  15. Epidemiology and clinical features of HIV-1 associated neuropathies.

    PubMed

    Verma, A

    2001-03-01

    Peripheral neuropathy is common in human immunodeficiency virus type-1 (HIV-1) infection. Peripheral neuropathies complicate all stages of the HIV-1 disease and cause considerable morbidity and disability in HIV-1 infected individuals and acquired immunodeficiency syndrome (AIDS) patients. Whereas symptomatic neuropathies occur in approximately 10% to 15% of HIV-1-infected patients overall, pathologic evidence of peripheral nerve involvement is present in virtually all end-stage AIDS patients. There are 6 major clinical types of HIV-associated neuropathies that are regularly seen in large HIV-1 clinics. Distal sensory polyneuropathy (DSP) is the most common among the HIV-1-associated neuropathies. DSP generally occurs in later stages of HIV-1 infection and it follows an indolent and protracted clinical course. The dominant clinical features in DSP include distal pain, paresthesia and numbness in a typical length-dependent fashion with proximal to distal gradient. Whereas toxic neuropathies--secondary to certain antiretroviral agents--are clinically similar to DSP, their temporal relation to neurotoxic medication helps distinguish them from other HIV-1-associated neuropathies. DSP and toxic neuropathy may coexist in a single patient. Acute and chronic inflammatory demyelinating polyradiculoneuropathies (AIDP and CIDP) produce global limb weakness. AIDP may occur at seroconversion and it can therefore be the initial manifestation of HIV-1 infection. CIDP generally occurs in the mid to late stages of HIV-1 infection. Progressive polyradiculopathy (PP) occurs in patients with advanced immunodeficiency and is generally caused by the opportunist cytomegalovirus (CMV) infection. Mononeuropathy multiplex (MM) in early stages of HIV-1 infection is immune mediated, whereas in advanced AIDS it is caused by the CMV infection. Finally, subclinical autonomic nervous system involvement is common in all stages of HIV-1 infection. Because HIV-1-associated neuropathies are diverse in their etiology and pathogenesis, a precise clinical diagnosis is required to formulate a rational therapeutic intervention. PMID:11293807

  16. Dent’s disease: clinical features and molecular basis

    Microsoft Academic Search

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

    2011-01-01

    Dent’s disease is an X-linked recessive renal tubulopathy characterized by low-molecular-weight proteinuria (LMWP), hypercalciuria,\\u000a nephrocalcinosis, nephrolithiasis, and progressive renal failure. LMWP is the most constant feature, while the other clinical\\u000a manifestations show wide variability. Patients also present variable manifestations of proximal tubule dysfunctions, such\\u000a as aminoaciduria, glucosuria, hyperphosphaturia, kaliuresis, and uricosuria, consistent with renal Fanconi syndrome. Dent’s\\u000a disease affects mainly

  17. 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

  18. Livedoid vasculopathy: clinical features and treatment in 24 Chinese patients.

    PubMed

    Feng, Suiying; Su, Wei; Jin, Peiying; Shao, Changgeng

    2014-09-01

    Livedo vasculopathy (LV) is a chronic cutaneous disorder characterised by recurrent, painful ulceration ending in stellate scars. We have conducted a retrospective study of clinical features and treatment response of LV in 24 Chinese patients. LV occurred more frequently in women (male:female ratio??1:3). The peak age at onset of disease ranged from 14 to 20 years, younger than previously published data. 87.5% of the patients (21/24) showed significant summer exacerbation with ulcer formation. Out of 24 patients tested, 14 (58.3%) had positive antiphospholipid antibodies. Ten out of 14 patients (71.4%) were tested to be hypersensitive to multivalent insect antigens. Combinative anti-inflammatory therapy with steroids, tetracycline and Tripterygium glycosides plus antiplatelet/profibrinolytic drugs promoted quick healing of ulcer and reduce recurrence. The younger age of disease presentation and significant summer exacerbation are 2 novel clinical features observed in this study. These findings suggest that apart from procoagulation other risk factors may contribute significantly to the pathogenesis of LV. Although antiplatelet/profibrinolytic drugs are deemed as a first line therapy for LV, anti-inflammatory medications such as steroids, tetracycline and Tripterygium glycosides, from our experiences, are indispensable, especially for acute, ulcerative stage of disease. PMID:24352295

  19. Urothelial dysplasia of the bladder: diagnostic features and clinical significance.

    PubMed

    Lopez-Beltran, Antonio; Montironi, Rodolfo; Vidal, Alfredo; Scarpelli, Marina; Cheng, Liang

    2013-06-01

    The 2004 World Health Organization classification system for urothelial neoplasia identifies urothelial dysplasia (low-grade intraurothelial neoplasia) as a premalignant lesion of the urothelium. Although diagnostic criteria of urothelial dysplasia have been improved in recent years, there is a frequent lack of interobserver reproducibility. Follow-up studies suggest that dysplasia is a marker for urothelial instability and disease progression in up to 19% of patients, thus supporting an active clinical follow-up in these patients. The main differential diagnosis of urothelial dysplasia includes flat urothelial lesions with atypia, mainly flat (simple) urothelial hyperplasia, reactive urothelial atypia, urothelial atypia of unknown significance, and urothelial carcinoma in situ (high-grade intraurothelial neoplasia). In most cases, morphologic features alone suffice for diagnosis. Some cases may require a panel of immunohistochemical antibodies consisting of cytokeratin 20, p53 and CD44 for diagnosis. We present pathologic features and clinical significance of urothelial dysplasia with emphasis on differential diagnosis from common flat urothelial lesions with atypia. PMID:24344498

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

    PubMed

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

    2015-07-01

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

  1. Clinical features and survival outcome of locally advanced extrahepatic cholangiocarcinoma

    PubMed Central

    Lee, Sang-Jae; Kwon, Wooil; Kang, Mee Joo; Jang, Jin-Young; Chang, Ye Rim; Jung, Woohyun

    2014-01-01

    Backgrounds/Aims Little is known about clinical features and survival outcome in locally advanced unresectable extrahepatic cholangiocarcinoma (EHC). The aim was to investigate the clinical features and the survival outcome in these patients, and to evaluate the role of palliative resections in locally advanced unresectable EHC. Methods Between 1995 and 2007, 280 patients with locally advanced unresectable EHC were identified. Clinical, pathologic, and survival data were investigated. A comparative analysis was done between those who received palliative resection (PR) and those who were not operated on (NR). Results The overall median survival of the study population was 10±1 months, and the 3- and 5-year survival rates (YSR) were 8.5% and 2.5%, respectively. The median survival, 3- and 5-YSR of PR were 23 months, 32.1% and 13.1%, respectively. For NR, they were 9 months, 3.9% and 0%, which were significantly worse than PR (p<0.001). In univariate analysis, T classification, N classification, tumor location, palliative resection, adjuvant treatment, chemotherapy, and radiation therapy were factors that showed survival difference between PR and NR. Regional lymph node metastasis (RR, 2.084; 95% CI, 1.491-2.914; p<0.001), non-resections (RR, 2.270; 95% CI, 1.497-3.443; p<0.001), and no chemotherapy (RR, 1.604; 95% CI, 1.095-2.349; p=0.015) were identified as risk factors for poor outcome on multivariate analysis. Conclusions Without evidence of systemic disease, palliative resection may provide some survival benefit in selected locally advanced unresectable EHCs and adjuvant treatment may further improve survival outcome.

  2. The clinical features of the overlap between COPD and asthma

    PubMed Central

    2011-01-01

    Background The coexistence of COPD and asthma is widely recognized but has not been well described. This study characterizes clinical features, spirometry, and chest CT scans of smoking subjects with both COPD and asthma. Methods We performed a cross-sectional study comparing subjects with COPD and asthma to subjects with COPD alone in the COPDGene Study. Results 119 (13%) of 915 subjects with COPD reported a history of physician-diagnosed asthma. These subjects were younger (61.3 vs 64.7 years old, p = 0.0001) with lower lifetime smoking intensity (43.7 vs 55.1 pack years, p = 0.0001). More African-Americans reported a history of asthma (33.6% vs 15.6%, p < 0.0001). Subjects with COPD and asthma demonstrated worse disease-related quality of life, were more likely to have had a severe COPD exacerbation in the past year, and were more likely to experience frequent exacerbations (OR 3.55 [2.19, 5.75], p < 0.0001). Subjects with COPD and asthma demonstrated greater gas-trapping on chest CT. There were no differences in spirometry or CT measurements of emphysema or airway wall thickness. Conclusion Subjects with COPD and asthma represent a relevant clinical population, with worse health-related quality of life. They experience more frequent and severe respiratory exacerbations despite younger age and reduced lifetime smoking history. Trial registration ClinicalTrials.gov: NCT00608764 PMID:21951550

  3. 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

  4. Clinical features of acute corpus callosum infarction patients

    PubMed Central

    Yang, Li-Li; Huang, Yi-Ning; Cui, Zhi-Tang

    2014-01-01

    The clinical manifestation of acute corpus callosum (CC) infarction is lack of specificity and complex, so it is easily missed diagnosis and misdiagnosis in the early stage. The present study aims to describe the clinical features of the acute CC infarction. In this study, 25 patients with corpus callosum infarction confirmed by the brain MRI/DWI and the risk factors were summarized. Patients were classified into genu infarction (3 cases), body infarction (4cases), body and genu infarction (4 cases), body and splenium infarction (1 case), splenium infarction (13 cases) according to lesion location. Clinical manifestation and prognosis were analyzed among groups. The results indicated that CC infarction in patients with high-risk group accounted for 72%, moderate-risk group accounted for 20%, low-risk group (8%). The main risk factors are carotid intimal thickening or plaque formation, hypertension, hyperlipidemia, cerebral artery stenosis, and so on. The CC infarction often merged with other parts infarction, and splenium infarction had the highest incidence, the clinical symptoms in the body infarction which can appear typical signs and symptoms, but in other parts infarction which always merged many nerve defect symptoms. The body infarction prognosis is poor; the rest parts of infarction are more favorable prognosis. In conclusion, CC infarction has the highest incidence in the stroke of high-risk group; neck color Doppler and TCD examination can be found as early as possible to explore the pathogenic factors. Prognosis is usually much better by treatment according to the location and risk factors. PMID:25197390

  5. 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

  6. Human hantavirus infections: epidemiology, clinical features, pathogenesis and immunology.

    PubMed

    Manigold, Tobias; Vial, Pablo

    2014-01-01

    In humans, hantaviruses can cause haemorrhagic fever with renal syndrome (HFRS) or hantavirus cardiopulmonary syndrome (HCPS). Currently it is estimated that 150,000 to 200,000 cases of hantavirus disease occur each year, the majority being reported in Asia. However, human hantavirus infections are increasingly reported in the Americas and Europe. Although many of the underlying pathogenic mechanisms still remain unclear, recent evidence rather argues against a purely immune-mediated pathophysiology of human disease. Despite the high morbidity and case-fatality rates of HFRS and HCPS, respectively, no vaccine or drug is currently proven to be preventive or therapeutic. This review summarises clinical features and current epidemiological findings, as well as concepts regarding the immunology, pathogenesis and intervention strategies of human hantaviral diseases. PMID:24652684

  7. Composite Hemangioendothelioma: Clinical and Histologic Features of an Enigmatic Entity.

    PubMed

    Shang Leen, Sarah Lam; Fisher, Cyril; Thway, Khin

    2015-07-01

    Composite hemangioendotheliomas are rare vascular neoplasms of intermediate biological potential, characterized by a complex admixture of benign, low-grade malignant, and malignant vascular components. They can affect both adults and children, and occur predominantly as long-standing lesions in the dermis and subcutis of the extremities, but have also been increasingly reported at other sites, including the oral cavity and in viscera such as kidney and spleen. These usually behave in a low-grade manner, with a relatively high rate of local recurrence and rarely lymph node and distant metastases, but no tumor-related deaths have been reported. Microscopically these are heterogenous neoplasms with merging of different vascular patterns, which immunohistochemically variably express vascular endothelial markers. Because of the wide morphologic spectrum, they can be difficult to recognize, but accurate diagnosis is crucial for correct treatment and prognostication. We review the literature, discussing clinical and histopathologic features, and the differential diagnosis of these rare tumors. PMID:26050262

  8. Pityriasis Rosea in Children: Clinical Features and Laboratory Investigations.

    PubMed

    Drago, Francesco; Ciccarese, Giulia; Broccolo, Francesco; Cozzani, Emanuele; Parodi, Aurora

    2015-01-01

    Pityriasis rosea (PR) is a common, self-limiting exanthematous disease associated with a systemic reactivation of human herpesvirus 6 (HHV-6) and/or HHV-7. It usually occurs in the second or third decade of life whereas it is uncommon in patients younger than 10 years. We studied the clinical features and virological parameters of 31 children with PR, comparing them with those in adults. Our findings indicate that PR presents different characteristics between children and adults, mainly consisting of time lapse between herald patch and generalized eruption, duration of the exanthem, oropharyngeal involvement and persistence of HHV-6 and HHV-7 plasma viremia. Overall, these results suggest that, following HHV-6 and/or HHV-7 systemic active infection, the pathogenetic mechanisms involved in PR may at least partly be different in children and adults. © 2015 S. Karger AG, Basel. PMID:25997658

  9. Clinical features of schizophrenia with enhanced carbonyl stress.

    PubMed

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

    2014-09-01

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

  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. 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

  12. Clinical features of coronary artery ectasia in the elderly

    PubMed Central

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

    2014-01-01

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

  13. 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

  14. [Clinical features of messianic delusions in schizophrenic spectrum disorders].

    PubMed

    Pashkovski?, V E

    2006-01-01

    Clinical features of messianic delusions in endogenous psychoses have been retrospectively studied in 75 patients (33 male, 42 female, aged 16-62 years, illness duration from 0.5 to 39 years) with diagnosis paranoid schizophrenia, continuous type (F20.00)--18 patients, attack like progressive type (F20.02)--17 patients, schizoaffective disorder (F25)--27 and acute polymorphic psychotic disorder (F23.03)--13. Being a kind of delusion of grandeur, messianic delusion is characterized by destruction of "self" as break with the past experience, transformation to mythological characters (total depersonalization) and assignment of supernatural power. Its content is similar to apocalyptical, mystical, antagonistic (Manicheam) delusions. Formation of the delusion plot occurred in the framework of hallucinate-paranoid syndrome received its greatest expression in the structure of paraphrenic and oneiroid syndromes. The volume of its content, duration and mechanisms of delusion formation (hallucinative, sensual and delusion of imagination) were defined by a form of schizophrenic psychosis. Sometimes such patients confer social danger and demand more attention from psychiatrists. PMID:16737155

  15. 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

  16. [Human leptospirosis in French Polynesia. Epidemiological, clinical and bacteriological features].

    PubMed

    Coudert, C; Beau, F; Berlioz-Arthaud, A; Melix, G; Devaud, F; Boyeau, E; Jaomeau, C; Lablee, P; Jarno, P

    2007-04-01

    Leptospirosis is a severe zoonotic disease that constitutes a major public health problem for the island populations of French Polynesia. Due to protean clinical manifestations and the risk of misdiagnosis with dengue fever, endemic viral disease, laboratory studies are necessary to confirm diagnosis of leptospirosis. At the request of the Pacific Public Health Surveillance Network, a prospective study was conducted in the population of Raieatea in the Windward Islands and the Marquis Islands to determine the epidemiological features of the disease and to define appropriate control measures. A total of 113 patients were enrolled in study between March 2004 and March 2005. Thirty-three cases were confirmed based on demonstration of serum DNA or seroconversion. The estimated annual incidence of leptospirosis was 1.7 per 1000 inhabitants. Cases involved mainly (75%) young men (mean age, 30.5 years) and occurred predominantly during the rainy season. Swimming in fresh water was the only factor showing significant correlation (p < 0.02) with positive diagnosis of leptospirosis. The most frequently identified serotype was Leptospira icterohemorrahgiae (43% of strains), thus suggesting that the rat was the most common human transmission vector. However other serotypes were found, underlining the presence of diverse reservoirs and casting doubt on the efficacy of immunization using a monovalent vaccine. These findings also indicate that enhancement of prevention and control measures for leptospirosis is needed. PMID:17691431

  17. Eosinophilic colitis: epidemiology, clinical features, and current management

    PubMed Central

    Alfadda, Abdulrahman A.; Storr, Martin A.; Shaffer, Eldon A.

    2011-01-01

    Primary eosinophilic gastrointestinal disorders (EGIDs) represent a spectrum of inflammatory gastrointestinal disorders in which eosinophils infiltrate the gut in the absence of known causes for such tissue eosinophilia. EGIDs can be subgrouped as eosinophilic esophagitis (EE), eosinophilic gastroenteritis (EG), and eosinophilic colitis (EC). The least frequent manifestation of EGIDs is EC. EC is a heterogeneous entity with a bimodal age distribution, presenting with either an acute self-limited bloody diarrhea in otherwise healthy infants or as a more chronic relapsing colitis in young adults. The pathophysiology of primary EC appears related to altered hypersensitivity, principally as a food allergy in infants and T lymphocyte-mediated (i.e. non-IgE associated) in young adults. In adults, symptoms include diarrhea, abdominal pain, and weight loss. Endoscopic changes are generally modest, featuring edema and patchy granularity. Although standardized criteria are not yet established, the diagnosis of EC depends on histopathology that identifies an excess of eosinophils. Therapeutic approaches are based on case reports and small case series, as prospective randomized controlled trials are lacking. Eosinophilic colitis in infants is a rather benign, frequently food-related entity and dietary elimination of the aggressor often resolves the disorder within days. Adolescent or older patients require more aggressive medical management including: glucocorticoids, anti-histamines, leukotriene receptors antagonists as well as novel approaches employing biologics that target interleukin-5 (IL-5) and IgE. This review article summarizes the current knowledge of EC, its epidemiology, clinical manifestations, diagnosis, and treatment. PMID:21922029

  18. ls Mass Removalan EfficientMeasureto Regulatethe_NorthAmericancatfish Ameiuru; melas

    E-print Network

    Cucherousset, Julien

    ls Mass Removalan EfficientMeasureto Regulatethe_NorthAmericancatfish Ameiuru; melas Outsideof lts). The black bullhead (Ameyrus melas),an ictalurid fish native to North Aïerica, ls anexample of a non into eight zoneswherefishing is permitted (meanareaof land cover: 905 ha+ 366 S.D.).The fwo protectedareas

  19. 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

  20. Difference of clinical features in childhood Mycoplasma pneumoniae pneumonia

    PubMed Central

    2010-01-01

    Background M. pneumoniae pneumonia (MP) has been reported in 10-40% of community-acquired pneumonia cases. We aimed to evaluate the difference of clinical features in children with MP, according to their age and chest radiographic patterns. Methods The diagnosis of MP was made by examinations at both admission and discharge and by two serologic tests: the indirect microparticle agglutinin assay (?1:40) and the cold agglutinins titer (?1:32). A total of 191 children with MP were grouped by age: ?2 years of age (29 patients), 3-5 years of age (81 patients), and ?6 years of age (81 patients). They were also grouped by pneumonia pattern: bronchopneumonia group (96 patients) and segmental/lobar pneumonia group (95 patients). Results Eighty-six patients (45%) were seroconverters, and the others showed increased antibody titers during hospitalization. Among the three age groups, the oldest children showed the longest duration of fever, highest C-reactive protein (CRP) values, and the most severe pneumonia pattern. The patients with segmental/lobar pneumonia were older and had longer fever duration and lower white blood cell (WBC) and lymphocyte counts, compared with those with bronchopneumonia. The patient group with the most severe pulmonary lesions had the most prolonged fever, highest CRP, highest rate of seroconverters, and lowest lymphocyte counts. Thrombocytosis was observed in 8% of patients at admission, but in 33% of patients at discharge. Conclusions In MP, older children had more prolonged fever and more severe pulmonary lesions. The severity of pulmonary lesions was associated with the absence of diagnostic IgM antibodies at presentation and lymphocyte count. Short-term paired IgM serologic test may be mandatory for early and definitive diagnosis of MP. PMID:20604923

  1. Senile Systemic Amyloidosis: Clinical Features at Presentation and Outcome

    PubMed Central

    Pinney, Jennifer H.; Whelan, Carol J.; Petrie, Aviva; Dungu, Jason; Banypersad, Sanjay M.; Sattianayagam, Prayman; Wechalekar, Ashutosh; Gibbs, Simon D. J.; Venner, Christopher P.; Wassef, Nancy; McCarthy, Carolyn A.; Gilbertson, Janet A.; Rowczenio, Dorota; Hawkins, Philip N.; Gillmore, Julian D.; Lachmann, Helen J.

    2013-01-01

    Background Cardiac amyloidosis is a fatal disease whose prognosis and treatment rely on identification of the amyloid type. In our aging population transthyretin amyloidosis (ATTRwt) is common and must be differentiated from other amyloid types. We report the clinical presentation, natural history, and prognostic features of ATTRwt compared with cardiac?isolated AL amyloidosis and calculate the probability of disease diagnosis of ATTRwt from baseline factors. Methods and Results All patients with biopsy?proven ATTRwt (102 cases) and isolated cardiac AL (36 cases) seen from 2002 to 2011 at the UK National Amyloidosis Center were included. Median survival from the onset of symptoms was 6.07 years in the ATTRwt group and 1.7 years in the AL group. Positive troponin, a pacemaker, and increasing New York Heart Association (NYHA) class were associated with worse survival in ATTRwt patients on univariate analysis. All patients with isolated cardiac AL and 24.1% of patients with ATTRwt had evidence of a plasma cell dyscrasia. Older age and lower N?terminal pro?B?type natriuretic peptide (NT pro?BNP) were factors significantly associated with ATTRwt. Patients aged 70 years and younger with an NT pro?BNP <183 pmol/L were more likely to have ATTRwt, as were patients older than 70 years with an NT pro?BNP <1420 pmol/L. Conclusions Factors at baseline associated with a worse outcome in ATTRwt are positive troponin T, a pacemaker, and NYHA class IV symptoms. The age of the patient at diagnosis and NT pro?BNP level can aid in distinguishing ATTRwt from AL amyloidosis. PMID:23608605

  2. 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

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

    PubMed Central

    Read, A E

    1978-01-01

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

  4. Differential clinical features of late-onset panic disorder

    Microsoft Academic Search

    J Segu??; L Salvador-Carulla; M Márquez; J Canet; M Ortiz

    2000-01-01

    Objectives: The aim was to analyse the sociodemographic and clinical characteristics of panic disorder (PD) in patients with a PD onset after 60 years of age, at two outpatient psychiatric clinics in Barcelona (northeastern Spain). Material and methods: All patients presenting with PD at two outpatient clinics over a 4-year period were assessed by the same team. Patients with PD

  5. 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

  6. Autism and Tuberous Sclerosis Complex: Prevalence and Clinical Features

    Microsoft Academic Search

    Peggy Baker; Joseph Piven; Yutaka Sato

    1998-01-01

    This study employed a hierarchical assessment to detect the prevalence of autism in a clinic sample of individuals with tuberous sclerosis complex (TSC). After screening subjects with the Autism Behavior Checklist, subsequent evaluations with the Autism Diagnostic Interview, and direct clinical observation, the prevalence of autistic disorder in this sample of 20 subjects was conservatively estimated at 20%. Data suggest

  7. Idiopathic partial epilepsy with auditory features (IPEAF): a clinical and genetic study of 53 sporadic cases

    Microsoft Academic Search

    F. Bisulli; P. Tinuper; P. Avoni; P. Striano; S. Striano; G. d'Orsi; L. Vignatelli; A. Bagattin; E. Scudellaro; I. Florindo; C. Nobile; C. A. Tassinari; A. Baruzzi; R. Michelucci

    2004-01-01

    Summary The purpose of our study was to describe the clinical characteristics of sporadic (S) cases of partial epilepsy with auditory features (PEAF) and pinpoint clinical, prognostic and genetic differences with respect to previ- ously reported familial (F) cases of autosomal dominant partial epilepsy with auditory features (ADPEAF). We analysed 53 patients (24 females and 29 males) with PEAF diagnosed

  8. Clinical, Electroencephalographic, and Behavioral Features of Temporal Lobe Epilepsy in Childhood

    Microsoft Academic Search

    Renata C. Franzon; Maria Augusta Montenegro; Catarina A. Guimarães; Carlos A. M. Guerreiro; Fernando Cendes; Marilisa M. Guerreiro

    2004-01-01

    This study describes the clinical, electroencephalographic, and behavioral features of 36 children with temporal lobe epilepsy. Patients were divided into two groups: group A, with 6 patients (< 6 years), and group B, with 30 patients (6-18 years). Statistical analysis was performed considering the significance level of .05. Regarding the clinical features of the focal seizures, motor components were more

  9. Clinical features associated to refractory obsessive–compulsive disorder

    Microsoft Academic Search

    Ygor A. Ferrão; Roseli G. Shavitt; Nádia R. Bedin; Maria Eugênia de Mathis; Antônio Carlos Lopes; Leonardo F. Fontenelle; Albina R. Torres; Eurípedes C. Miguel

    2006-01-01

    Some patients with obsessive–compulsive disorder (OCD) exhibit an unsatisfactory reduction in symptom severity despite being treated with all the available therapeutic alternatives. The clinical variables associated with treatment-refractoriness in OCD are inconsistently described in the literature.

  10. Features of TMR for a Successful Clinical and Research Database

    PubMed Central

    Pryor, David B.; Stead, William W.; Hammond, W. Edward; Califf, Robert M.; Rosati, Robert A.

    1982-01-01

    A database can be used for clinical practice and for research. The design of the database is important if both uses are to succeed. A clinical database must be efficient and flexible. A research database requires consistent observations recorded in a format which permits complete recall of the experience. In addition, the database should be designed to distinguish between missing data and negative responses, and to minimize transcription errors during the recording process.

  11. Clinical variation in epidermal features of ubiquitous plants

    E-print Network

    Cabral, Adolfo Celestino

    1990-01-01

    epidermis attributes. Three dicots; Proso is ladulosa Torr. , Celtis ~1' t M'lid. , d ' ' ' M'll. , d f t B t*1 t' d 1 M' h . . ~t' d 1 El mus canadensis L. var. canadensis, Sti a leucotricha f . & R p . , d ~ h' h . . ~f (C. E. Hubb. ) Gould were.... Barnhart 26 26 30 36 37 38 40 41 42 44 45 V. EPIDERMAL CHARACTERISTICS. . . VI. METHODS. 56 VII . RESULTS AND DISCUSSION. t t*1 ~t' d t Observed Quantitative Features. Observed Qualitative Features. . ~E1 mus canadensis. Observed...

  12. [Morphology and clinical features of autoimmune thyroid diseases].

    PubMed

    Schröder, S; Arndt, R; Weinland, G; Schuppert, F

    1996-01-01

    The aetiopathogenesis of autoimmune thyroid diseases is the subject of various partly contradicting hypotheses and theories. Morphologically, these illnesses are associated with a broad spectrum of overlapping changes. Thus, pathology either can not serve as the logical basis for a new classification of autoimmune thyroid diseases. This overview therefore makes use of the conventional nomenclature of clinically established entities and includes recently defined lesions. Besides histological characteristics details of differential diagnostic value are presented in the context of clinical and laboratory data relevant for pathological typing. PMID:9065058

  13. Layers and a Dust Devil in Melas Chasma

    NASA Technical Reports Server (NTRS)

    2000-01-01

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

  14. Atypical depression among psychiatric inpatients: clinical features and personality traits

    Microsoft Academic Search

    Celeste N. Derecho; Scott Wetzler; Lata K. McGinn; William C. Sanderson; Gregory M. Asnis

    1996-01-01

    Objective: This study investigates the frequency and characteristics of Atypical Depression (AD) among depressed inpatients. Method: Twenty-one depressed inpatients received DSM-IV diagnoses, were rated on the Hamilton Depression Rating Scale (HAMD), and assessed for AD using the Atypical Depressive Disorder Scale. AD was defined as the presence of mood reactivity and two of four associated features: hyperphagia, hypersomnia, leaden paralysis,

  15. 11/11 [Type text] Clinical Features and Molecular Genetics

    E-print Network

    Gilad, Yoav

    [1,2]. · EIEE2 is caused by mutations in CDKL5 (cyclin-dependent kinase-like 5; OMIM #300203), also located at Xp22 [3]. CDKL5 contains a serine/threonine kinase domain and is implicated in MeCP2 modification in vitro. The most common feature found in patients reported to date with CDKL5 mutations

  16. The clinical profile and pathophysiology of atrial fibrillation: relationships among clinical features, epidemiology, and mechanisms.

    PubMed

    Andrade, Jason; Khairy, Paul; Dobrev, Dobromir; Nattel, Stanley

    2014-04-25

    Atrial fibrillation (AF) is the most common arrhythmia (estimated lifetime risk, 22%-26%). The aim of this article is to review the clinical epidemiological features of AF and to relate them to underlying mechanisms. Long-established risk factors for AF include aging, male sex, hypertension, valve disease, left ventricular dysfunction, obesity, and alcohol consumption. Emerging risk factors include prehypertension, increased pulse pressure, obstructive sleep apnea, high-level physical training, diastolic dysfunction, predisposing gene variants, hypertrophic cardiomyopathy, and congenital heart disease. Potential risk factors are coronary artery disease, kidney disease, systemic inflammation, pericardial fat, and tobacco use. AF has substantial population health consequences, including impaired quality of life, increased hospitalization rates, stroke occurrence, and increased medical costs. The pathophysiology of AF centers around 4 general types of disturbances that promote ectopic firing and reentrant mechanisms, and include the following: (1) ion channel dysfunction, (2) Ca(2+)-handling abnormalities, (3) structural remodeling, and (4) autonomic neural dysregulation. Aging, hypertension, valve disease, heart failure, myocardial infarction, obesity, smoking, diabetes mellitus, thyroid dysfunction, and endurance exercise training all cause structural remodeling. Heart failure and prior atrial infarction also cause Ca(2+)-handling abnormalities that lead to focal ectopic firing via delayed afterdepolarizations/triggered activity. Neural dysregulation is central to atrial arrhythmogenesis associated with endurance exercise training and occlusive coronary artery disease. Monogenic causes of AF typically promote the arrhythmia via ion channel dysfunction, but the mechanisms of the more common polygenic risk factors are still poorly understood and under intense investigation. Better recognition of the clinical epidemiology of AF, as well as an improved appreciation of the underlying mechanisms, is needed to develop improved methods for AF prevention and management. PMID:24763464

  17. 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...

  18. Differential clinical features of early-onset panic disorder

    Microsoft Academic Search

    J Segu??; M Márquez; L Garc??a; J Canet; L Salvador-Carulla; M Ortiz

    1999-01-01

    Background: Although panic disorder (PD) begins typically in adulthood, an earlier onset is not uncommon. Recent studies on early-onset PD indicate that this subgroup of patients may display distinct clinical characteristics. Objective: To compare a subgroup of early-onset PD patients with the rest of the sample. Method: A consecutive series of 442 patients with PD were included. Family histories were

  19. Association of clinical features with HLA in chronic pulmonary thromboembolism

    Microsoft Academic Search

    N. Tanabe; A. Kimura; S. Amano; O. Okada; Y. Kasahara; K. Tatsumi; M. Takahashi; H. Shibata; M. Yasunami; T. Kuriyama

    2005-01-01

    The aetiology of chronic thromboembolic pulmonary hypertension (CTEPH) is largely unknown and may be heterogeneous, because there are several ethnic differences in the clinical characteristics of CTEPH. Female predominance and a higher ratio of chronic to acute pulmonary thromboembolism have been reported in Japan as compared with the USA. Because such ethnic differences may be controlled by genetic factors, the

  20. Adult pilocytic astrocytomas: clinical features and molecular analysis

    PubMed Central

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

    2014-01-01

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

  1. 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

  2. Clinical gait data analysis based on Spatio-Temporal features

    E-print Network

    Katiyar, Rohit

    2010-01-01

    Analysing human gait has found considerable interest in recent computer vision research. So far, however, contributions to this topic exclusively dealt with the tasks of person identification or activity recognition. In this paper, we consider a different application for gait analysis and examine its use as a means of deducing the physical well-being of people. The proposed method is based on transforming the joint motion trajectories using wavelets to extract spatio-temporal features which are then fed as input to a vector quantiser; a self-organising map for classification of walking patterns of individuals with and without pathology. We show that our proposed algorithm is successful in extracting features that successfully discriminate between individuals with and without locomotion impairment.

  3. Clinical, laboratory and ultrasonography features of proven human fascioliasis.

    PubMed

    Haseeb, Ahmed N; El-Shazly, Atef M; Arafa, Magdy A S; Morsy, Ayman T A

    2003-08-01

    Examination of twenty parasitologically proven human cases of fascioliasis showed the following clinical, laboratory and ultrasonography results: (1) Both sexes are susceptible to fascioliasis. The smallest one was a child 3-year old. (2) The most important clinical manifestations are: a- abdominal distention and flatulence (30%), b- right upper quadrant pains (25%), colicky abdominal pains (25%), d- pallor (25%), and etympanitic abdomen (25%). Nevertheless, 15% of the patients showed no symptoms. (3) The most significant items in the CBC and liver function tests are: a- significantly high eosinophilia, b-high alkaline phosphatase, and c- low haemoglobin. Besides, two fascioliasis patients had high serum bilirubin. (4) Ultrasonography diagnosed only nine fascioliasis patients (45%). The result was critically discussed. PMID:14964655

  4. 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

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

    PubMed

    Judson, Marc A

    2015-08-01

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

  6. Genetic and clinical features of primary torsion dystonia

    PubMed Central

    Ozelius, Laurie J.; Bressman, Susan B.

    2011-01-01

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

  7. Episcleritis and scleritis: clinical features and treatment results

    Microsoft Academic Search

    Douglas A. Jabs; Abdulbaki Mudun; J. P. Dunn; Marta J. Marsh

    2000-01-01

    PURPOSE: To evaluate the clinical experience with episcleritis and scleritis at a tertiary care eye center.METHODS: Retrospective chart review.RESULTS: One hundred thirty-four patients with scleral inflammation were seen over a 12-year period. Thirty-seven patients had episcleritis, and 97 patients had scleritis. Ocular complications occurred in only 13.5% of patients with episcleritis but in 58.8% of patients with scleritis (P <

  8. 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

  9. Multiple sclerosis: clinical features and MRI findings in Northern China

    PubMed Central

    2014-01-01

    Background Reports in Asian populations suggest that ethnic and geographical differences may influence susceptibility to multiple sclerosis (MS) and its clinical behaviors. Here, we sought to retrospectively survey clinical characteristics and MRI data in Chinese subjects with MS. Methods We conducted a retrospective analysis in 117 patients with MS. The patients were divided into subgroups with optic-spinal form of multiple sclerosis (OSMS; n?=?42) and classical multiple sclerosis (CMS; n?=?75). Clinical characteristics, MRI finding and expanded disability status scale (EDSS) score were compared between the two groups. Results In 117 MS patients, 64.1% patients were classified as having CMS and 35.9% OSMS forms. White blood cell counts of OSMS patients were significantly higher than those of CMS patients (P <0.05). The longitudinal fusion lesions of spinal cord on MRI were statistically significant between groups (P <0.05). Spinal cord MRI showed that MS lesions were longer, and revealed spinal cord swelling in patients with CMS, but atrophy in patients with OSMS. The EDSS score at five years was significantly higher in patients with OSMS than in those with CMS (P <0.05). Relapse rates of patients with OSMS were also higher than those of patients with CMS (P <0.01) within one to three years. Conclusions OSMS accounts for a higher proportion of MS populations in Northern China than in Western countries. MRI showed a longitudinally extensive spinal cord lesion in patients with OSMS and spinal cord swelling at onset. PMID:24731721

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

    E-print Network

    Deitz, Kevin

    2012-02-14

    when used in a sibling species, 45 microsatellite loci originally developed for Anopheles gambiae were sequenced in An. melas. These loci were evaluated on their suitability as polymorphic markers based on repeat structure, length, and polymorphism...

  11. Implication on Aqueous History of Mars as Revealed by Hydrous Minerals in Southwest Melas Chasma

    NASA Astrophysics Data System (ADS)

    Liu, Y.; Glotch, T. D.

    2014-07-01

    We made new detections of hydrous minerals in southwest Melas Chasma including poly- and mono-hydrated sulfates, jarosite, and Fe/Mg smectites, and explored their possible formation mechanisms and implications on martian aqueous history.

  12. Ocular features in Alport syndrome: pathogenesis and clinical significance.

    PubMed

    Savige, Judy; Sheth, Shivanand; Leys, Anita; Nicholson, Anjali; Mack, Heather G; Colville, Deb

    2015-04-01

    Alport syndrome is an inherited disease characterized by progressive renal failure, hearing loss, and ocular abnormalities. Mutations in the COL4A5 (X-linked), or COL4A3 and COL4A4 (autosomal recessive) genes result in absence of the collagen IV ?3?4?5 network from the basement membranes of the cornea, lens capsule, and retina and are associated with corneal opacities, anterior lenticonus, fleck retinopathy, and temporal retinal thinning. Typically, these features do not affect vision or, in the case of lenticonus, are correctable. In contrast, the rarer ophthalmic complications of posterior polymorphous corneal dystrophy, giant macular hole, and maculopathy all produce visual loss. Many of the ocular features of Alport syndrome are common, easily recognizable, and thus, helpful diagnostically, and in identifying the likelihood of early-onset renal failure. Lenticonus and central fleck retinopathy strongly suggest the diagnosis of Alport syndrome and are associated with renal failure before the age of 30 years, in males with X-linked disease. Sometimes, ophthalmic features suggest the mode of inheritance. A peripheral retinopathy in the mother of a male with hematuria suggests X-linked inheritance, and central retinopathy or lenticonus in a female means that recessive disease is likely. Ocular examination, retinal photography, and optical coherence tomography are widely available, safe, fast, inexpensive, and acceptable to patients. Ocular examination is particularly helpful in the diagnosis of Alport syndrome when genetic testing is not readily available or the results are inconclusive. It also detects complications, such as macular hole, for which new treatments are emerging. PMID:25649157

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

    PubMed Central

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

    2015-01-01

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

  14. Clinical, dermoscopic, and histopathologic features of body hair disorders.

    PubMed

    Panchaprateep, Ratchathorn; Tanus, Aline; Tosti, Antonella

    2015-05-01

    Dermoscopic examination of hair and scalp, also named "trichoscopy," is an essential tool in diagnosis of hair and scalp diseases. Trichoscopy is fast and noninvasive and can be used to evaluate hair disorders in all body areas. Body hair disorders are uncommon, and most publications on their dermoscopic features are limited to case reports or series. In this review we present the available information on the dermoscopic diagnosis of body hair disorders including keratosis pilaris, trichostasis spinulosa, pili multigemini, circle hairs, rolled hairs, eruptive vellus hair cyst, and ingrown hairs. PMID:25748313

  15. Clinical Feature Analysis of Congenital Optic Nerve Abnormalities

    Microsoft Academic Search

    Mi Rang Kim; Sung Eun Park; Sei Yeul Oh

    2006-01-01

    Purpose  We investigated the clinical characteristics and associated ocular and systemic anomalies in young children with congenital\\u000a optic nerve abnormalities, and evaluated the therapeutic results of treatment for strabismus and amblyopia.\\u000a \\u000a \\u000a \\u000a Methods  A retrospective study was conducted using the medical records of patients who were diagnosed with congenital optic nerve abnormalities\\u000a in our hospital between 1995 and 2004.\\u000a \\u000a \\u000a \\u000a Results  This study involved 72

  16. 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. PMID:25878740

  17. Clinical features and management of organic acidemias in Japan.

    PubMed

    Fujisawa, Daisuke; Nakamura, Kimitoshi; Mitsubuchi, Hiroshi; Ohura, Toshihiro; Shigematsu, Yosuke; Yorifuji, Tohru; Kasahara, Mureo; Horikawa, Reiko; Endo, Fumio

    2013-12-01

    Organic acidemias (OAs) are rare inborn errors of metabolism. The clinical presentations of methylmalonic acidemia (MMA) and propionic acidemia (PA) in Japan have not yet been examined in detail. We aimed to investigate the clinical presentations of OAs in Japan and evaluate current therapies for improving long-term outcomes, especially in MMA and PA cases. Questionnaires were sent to 928 institutions in 2009 inquiring about OAs, and secondary questionnaires were sent to those who confirmed that they had diagnosed and/or treated such cases; 119 cases were eventually included for analysis. In Japan, the majority of OAs was MMA, which was associated with a high mortality rate. The survival rates at 20 years of age in vitamin B12-unresponsive MMA, vitamin B12-responsive MMA and PA patients were 69.8%, 94.4% and 95.8%, respectively. Factors associated with mortality in MMA were failure to thrive, hypoglycemia and pancreatitis. Factors associated with mental retardation in vitamin B12-unresponsive MMA, vitamin B12-responsive MMA, and PA were seizure and liver dysfunction, seizure and failure to thrive, and failure to thrive, respectively. We advocated that avoiding failure to thrive due to too restricted protein diet, hypoglycemia and pancreatitis associated with mortality lead to improve outcome, especially in vitamin B12-unresponsive MMA patients. PMID:24067294

  18. [Gastroesophageal reflux disease: clinical and pathophysiological features (part I)].

    PubMed

    Corinaldesi, R; Salvioli, B; Lioce, A; Barbara, G; Cremon, C; Fustini, E; Bini, L; Cogliandro, R; Boschi, E; Felicani, C; Stanghellini, V; De Giorgio, R

    2007-01-01

    Gastroesophageal reflux disease (GERD) can be described as a clinical picture resulting from the reflux of stomach contents into the esophagus. The actual prevalence of GERD remains unestablished, although this disorder is generally common in old patients, male sex and in subsets of patients with pulmonary manifestations such as asthma. From a pathophysiological stand-point, GERD is thought to have a multifactorial etiology which involves genetics, anatomical, functional, environmental, hormonal and pharmacological factors. GERD has different clinical presentations which may be divided in three main classes: typical symptoms (heartburn and regurgitation); atypical or extraesophageal symptoms (angina-like chest pain, asthma, chronic cough and laryngitis); and complications (ulcers, strictures and Barrett's esophagus). In GERD diagnosis a key role is played by: accurate symptom evaluation, response to proton pump inhibitors and, finally, at least one in a life-time endoscopy. Moreover, barium swallow X-ray, 24-h esophageal pH monitoring and gastro-esophageal manometry can be useful to support diagnosis in some unusual cases or in cases partially or unresponsive to standard pharmacologic treatment. PMID:17405661

  19. [Cutaneous radiation syndrome: clinical features, diagnosis and therapy].

    PubMed

    Gottlöber, P; Krähn, G; Peter, R U

    2000-08-01

    Accidental exposure to ionizing radiation may occur during such catastrophic events as the Chernobyl accident in 1986 or over days to weeks as in Goiania in 1987 and in the military camp during the training of soldiers in Lilo/Georgia in 1997, as well as in medical institutions. The cutaneous symptoms after radiation exposure are based on a combination of inflammatory processes and alteration of cellular proliferation as a result of a specific pattern of transcriptionally activated proinflammatory cytokines and growth factors. They follow a time course consisting of prodromal erythema, latency period, acute stage, chronic stage and late stage. The entire complex is referred to as cutaneous radiation syndrome. The time course depends on several factors such as the radiation dose, radiation quality, individual radiation sensitivity, the extent of contamination and absorption and amount of skin exposed. For the diagnosis of the cutaneous radiation syndrome the following procedures are used: 7.5 MHz to 20 MHz-B-scan sonography, thermography, capillary microscopy, profilometry, nuclear magnetic resonance imaging, bone scintigraphy and histology. Based on the results of experimental and clinical research, today treatment may include topical or systemic corticosteroids, gamma-interferon, pentoxifylline, vitamin E and superoxide dismutase. The treatment depends on the stage of the cutaneous radiation syndrome. Due to the complexity of the clinical manifestations of radiation disease, most patients require interdisciplinary treatment in specialized centres. Dermatologists are essential partners in the life-long follow-up and therapy of such patients. PMID:10997311

  20. Clinical and immunological features of systemic lupus erythematosus complicated by Jaccoud's arthropathy

    Microsoft Academic Search

    Michio Takeishi; Akio Mimori; Teruhiko Suzuki

    2001-01-01

    This work was undertaken to evaluate clinical and immunological features in patients with systemic lupus erythematosus (SLE)\\u000a complicated by Jaccoud's arthropathy. Patients diagnosed with SLE between 1985 and 1999, and who met the criteria of Villiaumey\\u000a et al., were checked for Jaccoud's arthropathy. Clinical features were retrospectively analysed for patients with both diseases.\\u000a Sjögren's syndrome and human leukocyte antigens (HLA)

  1. Clinical feasibility of rapid confocal melanoma feature detection

    NASA Astrophysics Data System (ADS)

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

    2010-02-01

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

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

    PubMed

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

    2013-04-01

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

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

    PubMed Central

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

    1981-01-01

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

  4. Clinical features and prognosis with Guillain-Barré syndrome

    PubMed Central

    Akbayram, Sinan; Do?an, Murat; Akgün, Cihangir; Peker, Erdal; Say?n, Refah; Aktar, Fesih; Bekta?, Mehmet-Selçuk; Çaksen, Hüseyin

    2011-01-01

    Background: Guillain-Barré syndrome (GBS) is an acute inflammatory polyneuropathy commonly characterized by rapidly progressive, symmetric weakness and areflexia. Materials and Methods: We retrospectively assessed the clinical manifestations, results of electrodiagnostic tests, functional status and prognosis of 36 children diagnosed with GBS. Results: Based on clinical and electrophysiological findings, the patients were classified as having acute inflammatory demyelinating polyradiculoneuropathy (AIDP) (n = 25), acute motor axonal neuropathy (AMAN) (n = 10) and acute motor-sensory axonal neuropathy (AMSAN) (n = 1). Twenty (55.5%) patients were males and 16 (44.5%) patients were females. The mean age of the 36 patients was 68.1 ± 45.01 months (range, 6–180 months). Five (13.8%) patients were younger than 2 years. The most common initial symptoms were limb weakness, which was documented in 34 (94.4%) patients. In our study, 18 patients (51.4%) showed albuminocytological dissociation (raised protein concentration without pleocytosis) on cerebrospinal fluid (CSF) examination. Three patients (8.3%) required mechanical ventilation therapy during hospitalization. Unfortunately, three (8.3%) patients died; one patient had AIDP and two patients had axonal involvement (one case was AMAN and another case was AMSAN). When we compared the cases of residual sequel/dead and cases of complete recovery for neural involvement type including AIDP, AMAN and AMSAN, we did not find a statistically significant difference between the groups (P > 0.05). Conclusion: Our findings showed that cases of GBS was not uncommon in children younger than 2 years of age, and CSF protein level might be found high in the first week of the disease in about one half of the patients, with a higher rate of morbidity and mortality in patients with axonal involvement than in those with AIDP. PMID:21808470

  5. Malignant melanomas of the oral cavity: Heterogeneity of pathological and clinical features

    Microsoft Academic Search

    Kenichi Ohashi; Tsutomu Kasuga; Nobuyuki Tanaka; Syoji Enomoto; Junichi Horiuchi; Norihiko Okada

    1992-01-01

    Summary Data on 35 patients with oral malignant melanomas were pooled and the pathological features and the clinical course were examined in detail. Of these 35 cases, 27 (77.1%) showed a two-phase growth pattern, with both a vertical and a radial growth phase. Moreover, these 27 cases were classified into three subtypes according to gross features of the vertical growth

  6. Analysis on the clinical features of 22 basaloid squamous cell carcinoma of the lung

    Microsoft Academic Search

    Li C Wang; Lei Wang; Sabrina Kwauk; Jennifer A Woo; Li Q Wu; Hong Zhu; Li Z Zhan; Na L Sun; Lei Zhang

    2011-01-01

    BACKGROUND: Basaloid squamous cell carcinoma of the lung is a rare and highly malignant tumor mostly observed in the proximal bronchi. Basaloid squamous cell carcinoma of the lung cases typically show rapid clinical progression, very poor prognosis and special pathological morphology. This project aimed to examine the clinical features of basaloid squamous cell carcinoma of the lung and the factors

  7. [Denial of pregnancy and neonaticide: psychopathological and clinical features].

    PubMed

    Seigneurie, A-S; Limosin, F

    2012-11-01

    Pregnancy denial and neonaticide have recently received media coverage following a series of French cases of neonatal killing. Although it has been known for a long time that some women deny their pregnancy and may kill their newborns, there is still no consensus on the etiopathogenic factors involved in the denial of pregnancy occurrence. Even though neonaticide is often committed by young, poor, unmarried women with little or no prenatal care, it appears that denial of pregnancy is a heterogeneous condition associated with different psychological features. Societies are ambivalent with regard to mothers who killed their children and tend to lay the entire blame on them. Furthermore, there is a widespread lack of understanding among the public on these affairs, when birth control techniques and methods are widely available. The purpose of this article is to describe the different types of pregnancy denial and neonaticide and to review the still debated etiopathogenic hypotheses. The absence of the physical changes of pregnancy at the time of the denial such as cessation of menstruation, abdominal swelling or perception of foetal movements is also discussed. PMID:22939654

  8. Ocular toxoplasmosis II: clinical features, pathology and management

    PubMed Central

    Butler, Nicholas J; Furtado, João M; Winthrop, Kevin L; Smith, Justine R

    2014-01-01

    The term, ocular toxoplasmosis, refers to eye disease related to infection with the parasite, Toxoplasma gondii. Recurrent posterior uveitis is the typical form of this disease, characterized by unilateral, necrotizing retinitis with secondary choroiditis, occurring adjacent to a pigmented retinochoroidal scar and associated with retinal vasculitis and vitritis. Multiple atypical presentations are also described, and severe inflammation is observed in immunocompromised patients. Histopathological correlations demonstrate focal coagulative retinal necrosis, and early in the course of the disease, this inflammation is based in the inner retina. For typical ocular toxoplasmosis, a diagnosis is easily made on clinical examination. In atypical cases, ocular fluid testing to detect parasite DNA by polymerase chain reaction or to determine intraocular production of specific antibody may be extremely helpful for establishing aetiology. Given the high seroprevalence of toxoplasmosis in most communities, serological testing for T. gondii antibodies is generally not useful. Despite a lack of published evidence for effectiveness of current therapies, most ophthalmologists elect to treat patients with ocular toxoplasmosis that reduces or threatens to impact vision. Classic therapy consists of oral pyrimethamine and sulfadiazine, plus systemic corticosteroid. Substantial toxicity of this drug combination has spurred interest in alternative antimicrobials, as well as local forms of drug delivery. At this time, however, no therapeutic approach is curative of ocular toxoplasmosis. PMID:22712598

  9. Acute sarcoid arthritis: occurrence, seasonal onset, clinical features and outcome.

    PubMed

    Glennås, A; Kvien, T K; Melby, K; Refvem, O K; Andrup, O; Karstensen, B; Thoen, J E

    1995-01-01

    In a 2-yr prospective follow-up study of patients presenting clinically with possible reactive arthritis (ReA), 17 (9%) of the patients turned out to have acute sarcoid arthritis (SA). The number of new cases of SA per year was 2.9/100,000 persons in the city of Oslo between 18 and 60 yr of age. The onset of SA clustered in the spring. All the SA patients presented with bilateral ankle joint involvement and bilateral hilar lymphadenopathy, and ten (59%) presented with the triad of erythema nodosum, arthritis and lung involvement. A prospective follow-up after 104 weeks showed complete remission of arthritis in all 17 cases of SA. The total duration of arthritis [median (range)] was 11 (2-107) weeks. Erythema nodosum was mild and transient in all cases. At week 104, the lung and hilar manifestations had resolved. We conclude that the outcome of SA appeared favourable. Bilateral ankle joint involvement, erythema nodosum and bilateral hilar lymphadenopathy found at the routine chest X-ray examination are important clues for the diagnosis of SA. PMID:7881838

  10. Traumatic optic neuropathy—Clinical features and management issues

    PubMed Central

    Yu-Wai-Man, Patrick

    2015-01-01

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

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

    PubMed Central

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

    2014-01-01

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

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

    PubMed Central

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

    2015-01-01

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

  13. Rasmussen's encephalitis: clinical features, pathobiology, and treatment advances.

    PubMed

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

    2014-02-01

    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

  14. Clinical features of thoracic endometriosis: A single center analysis

    PubMed Central

    Hwang, Sun Mi; Lee, Chung Won; Lee, Byung Seok

    2015-01-01

    Objective To analyze the diagnostic profiles and treatment outcomes of patients with thoracic endometriosis at a university hospital. Methods A retrospective review of medical records was performed for patients diagnosed with thoracic endometriosis at Gangnam Severance Hospital, Yonsei University College of Medicine, between January 2007 and January 2014. Results Fifteen patients (median age, 35 years; range, 23-48 years) were evaluated. Patients presented with catamenial hemoptysis (n=8), or catamenial pneumothorax (n=7). Patients with catamenial pneumothorax were significantly older than those presenting with hemoptysis (P=0.0002). Only 3 patients (20%) had coexisting pelvic endometriosis. All patients underwent chest computed tomography; lesions were shown to predominantly affect the right lung (right lung, n=13, 86.7%; left lung, n=2, 13.3%), and were mainly distributed on the right upper lobe (n=9, 60%). Ten patients underwent video-assisted thoracoscopic surgery, and 1 patient underwent a thoracotomy. Intraoperatively, endometriosis-specific findings were observed in 8/11 patients (72.7%); a further 5/11 patients (45.4%) had histologically detectable endometriosis. Over the follow-up period (mean, 18.4 months; range, 2-65 months) 5/15 patients (33%) had clinical signs of recurrence. Recurrence was not detected in any of the 5 catamenial pneumothorax patients that received adjuvant hormonal therapy after surgery. Conclusion The diagnosis and management of thoracic endometriosis requires a multidisciplinary approach, based upon skillful differential diagnosis, and involving careful gynecologic evaluation and assessment of the cyclicity of pulmonary symptoms. Imaging findings are non-specific, though there may be laterality towards the right lung. Since symptom recurrence is more common in those with presenting with pneumothorax, post-operative adjuvant medical therapy is recommended. PMID:26023672

  15. Cirrhosis-associated immune dysfunction: distinctive features and clinical relevance.

    PubMed

    Albillos, Agustín; Lario, Margaret; Álvarez-Mon, Melchor

    2014-12-01

    The term cirrhosis-associated immune dysfunction refers to the main syndromic abnormalities of immune function, immunodeficiency and systemic inflammation that are present in cirrhosis. The course of advanced cirrhosis, regardless of its aetiology, is complicated by cirrhosis-associated immune dysfunction and this constitutes the pathophysiological hallmark of an increased susceptibility to bacterial infection, distinctive of the disease. Cirrhosis impairs the homeostatic role of the liver in the systemic immune response. Damage to the reticulo-endothelial system compromises the immune surveillance function of the organ and the reduced hepatic synthesis of proteins, involved in innate immunity and pattern recognition, hinders the bactericidal ability of phagocytic cells. Systemic inflammation, in form of activated circulating immune cells and increased serum levels of pro-inflammatory cytokines, is the result of persistent episodic activation of circulating immune cells from damage-associated molecular patterns, released from necrotic liver cells and, as cirrhosis progresses, from pathogen-associated molecular patterns, released from the leaky gut. Cirrhosis-associated immune dysfunction phenotypes switch from predominantly "pro-inflammatory" to predominantly "immunodeficient" in patients with stable ascitic cirrhosis and in patients with severely decompensated cirrhosis and extra-hepatic organ failure (e.g. acute-on-chronic liver failure), respectively. These cirrhosis-associated immune dysfunction phenotypes represent the extremes of a spectrum of reversible dynamic events that take place during the course of cirrhosis. Systemic inflammation can affect the functions of tissue somatic cells and modify the clinical manifestation of cirrhosis. The best characterized example is the contribution of systemic inflammation to the haemodynamic derangement of cirrhosis, which correlates negatively with prognosis. PMID:25135860

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

    PubMed Central

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

    2015-01-01

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

  17. Clinical and Pathological Features of Korean Patients with DNM2-Related Centronuclear Myopathy

    PubMed Central

    Park, Young-Eun; Choi, Young-Chul; Bae, Jong-Suk; Lee, Chang-Hoon; Kim, Hyang-Suk; Shin, Jin-Hong

    2014-01-01

    Background and Purpose Centronuclear myopathy (CNM) is characterized by the presence of central nuclei within a large number of muscle fibers. Mutations of the dynamin 2 gene (DNM2) are common causes of autosomal dominant or sporadic CNM. The aim of this study was to characterize the clinical and pathological features of CNM relative to the presence of DNM2 mutations. Methods Six patients with clinical and pathological features of CNM were recruited. Detailed clinical and pathological findings were analyzed according to the presence of DNM2 mutations. Results We detected DNM2 mutations in four of the six sporadic CNM patients, and identified the following distinct clinical and pathological features in those patients with DNM2 mutations: preferential involvement of the distal lower limbs, typical nuclear centralization, and radially distributed sarcoplasmic strands in muscle pathology. In contrast, those without DNM2 mutations exhibited rather diffuse muscular involvement, and nuclear internalization and myofibrillar disorganization were more pronounced features of their muscle pathology. Conclusions These findings suggest the presence of specific features in Korean CNM patients. A detailed clinical and pathological examination of CNM patients would be helpful for molecular genetic analyses of this condition. PMID:24465259

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

    PubMed

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

    2011-01-15

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

  19. Developing key-feature problems and examinations to assess clinical decision-making skills.

    PubMed

    Page, G; Bordage, G; Allen, T

    1995-03-01

    This article introduces the concept of a key feature and describes its function as the cornerstone of key-feature problems, a new problem format for the written assessment of clinical decision-making skills of medical trainees and practitioners. The rationale for using this problem format and the steps in problem and examination development--including issues of scoring and standard setting--are described. A key feature is defined as a critical step in the resolution of a clinical problem, and a key-feature problem consists of a clinical case scenario followed by questions that focus on only those critical steps. The questions can be presented to require examinees either to write in their responses or to select them from a list of options. For each question, examines can be instructed to supply or select whatever number of responses is appropriate to the clinical task being tested, and answer keys can comprise one or several responses. This problem format, with its focus on only the critical steps in problem resolution, and with its flexibility in question format and scoring keys, effectively addresses the psychometric considerations of content validity and test score reliability, and accommodates the complexity and configurations of actions often required in the resolution of clinical problems. PMID:7873006

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

    PubMed Central

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

    2013-01-01

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

  1. Neuroendocrine differentiated breast carcinoma: imaging features correlated with clinical and histopathological findings

    Microsoft Academic Search

    Isil Günhan-Bilgen; Osman Zekioglu; Esin Emin Ustün; Aysenur Memis; Yildiz Erhan

    2003-01-01

    .   The aim of this study was to describe the imaging features of neuroendocrine differentiated breast carcinoma (NEDBC) and\\u000a to correlate the radiological findings with the clinical and histopathological findings. A retrospective review of the mammograms\\u000a of 1845 histopathologically proven breast cancer cases revealed five NEDBC. The clinical, imaging, and histopathological findings\\u000a were analyzed. On mammography, a high-density mass was

  2. Clinical Features of Chronic Pancreatitis in Korea: A Multicenter Nationwide Study

    Microsoft Academic Search

    Ji Kon Ryu; Jun Kyu Lee; Yong-Tae Kim; Dong Ki Lee; Dong Wan Seo; Kyu Taek Lee; Ho Gak Kim; Jae Seon Kim; Hong Sik Lee; Tae Nyeun Kim; Myung Hwan Rho; Jong Ho Moon; Jin Lee; Ho-Soon Choi; Woo Jin Lee; Byung Moo Yoo; Yong Bum Yoon

    2005-01-01

    Background\\/Aims: No reliable nationwide clinical data about chronic pancreatitis (CP) was available in Korea. The etiology and clinical features of CP were investigated using a multicenter nationwide study. Methods: 814 cases of CP were enrolled retrospectively over the past 4 years at 13 hospitals. The following data were obtained from all patients: etiology, symptoms, complications, and surgery. Result: Alcohol (64.3%)

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

    PubMed Central

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

    1984-01-01

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

  4. 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

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

    PubMed

    Ji, Zhiwei; Wang, Bing

    2014-01-01

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

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

    PubMed

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

    1990-08-01

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

  7. [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

  8. Subclinical Cushing's Syndrome in Patients with Adrenal Incidentaloma: Clinical and Biochemical Features

    Microsoft Academic Search

    R. Rossi; L. TAUCHMANOVA; A. LUCIANO; M. DI MARTINO; C. BATTISTA; L. DEL VISCOVO; V. NUZZO; G. LOMBARDI

    2000-01-01

    Incidentally discovered adrenal masses are mostly benign, asymp- tomatic lesions, often arbitrarily considered as nonfunctioning tu- mors. Recent studies, however, have reported increasing evidence that subtle cortisol production and abnormalities in the hypothalam- ic-pituitary-adrenal (HPA) axis are more frequent than previously thought. The purpose of this study was to investigate the clinical and hormonal features of patients with incidentally discovered

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

    PubMed Central

    Bawa, Pritish; Ibrahim, Zachary; Amodio, John

    2015-01-01

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

  10. Renal Parenchymal Malacoplakia and Megalocytic Interstitial Nephritis: Clinical and Histological Features

    Microsoft Academic Search

    Mohammad H. Al-Sulaiman; Abdullah A. Al-Khader; Dujana H. Mousa; Ramiz Y. Al-Swailem; Jagmohan Dhar; Abdul Haleem

    1993-01-01

    We report 2 cases of acute renal failure caused by rare and closely related inflammatory conditions, i.e. renal parenchymal malacoplakia and megalocytic interstitial nephritis. We have discussed the clinical presentation, natural progression of the disease, the short- and longterm prognosis of the kidney, the histological appearances, the radiological features and the medical therapy together with a review of the literature.Copyright

  11. Onychomycosis caused by nondermatophytic molds: Clinical features and response to treatment of 59 cases

    Microsoft Academic Search

    Antonella Tosti; Bianca Maria Piraccini; Sandra Lorenzi

    Background: Nail invasion by nondermatophytic molds (NDM) is considered uncommon with prevalence rates ranging from 1.45% to 17.6%. Objective: We report the clinical features and response to treatment of onychomycosis caused by these molds. Methods: From 1995 through 1998 we performed a mycologic study on 1548 patients affected by nail disorders, and we diagnosed 431 cases of onychomycosis including 59

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

    E-print Network

    Ober, Carole

    Activator Protein, Cause Floating Harbor Syndrome." (2012) Am J Hum Genet 90(2): 308-313. 2. White S et al1/13 Clinical Features: Patients with Floating Harbor syndrome [OMIM #136140] typically have short of affected individuals include a triangular shaped face, short philtrum, wide mouth, and a long nose

  13. Modified logistic regression models using gene coexpression and clinical features to predict prostate cancer progression.

    PubMed

    Zhao, Hongya; Logothetis, Christopher J; Gorlov, Ivan P; Zeng, Jia; Dai, Jianguo

    2013-01-01

    Predicting disease progression is one of the most challenging problems in prostate cancer research. Adding gene expression data to prediction models that are based on clinical features has been proposed to improve accuracy. In the current study, we applied a logistic regression (LR) model combining clinical features and gene co-expression data to improve the accuracy of the prediction of prostate cancer progression. The top-scoring pair (TSP) method was used to select genes for the model. The proposed models not only preserved the basic properties of the TSP algorithm but also incorporated the clinical features into the prognostic models. Based on the statistical inference with the iterative cross validation, we demonstrated that prediction LR models that included genes selected by the TSP method provided better predictions of prostate cancer progression than those using clinical variables only and/or those that included genes selected by the one-gene-at-a-time approach. Thus, we conclude that TSP selection is a useful tool for feature (and/or gene) selection to use in prognostic models and our model also provides an alternative for predicting prostate cancer progression. PMID:24367394

  14. Modified Logistic Regression Models Using Gene Coexpression and Clinical Features to Predict Prostate Cancer Progression

    PubMed Central

    Zhao, Hongya; Logothetis, Christopher J.; Gorlov, Ivan P.; Zeng, Jia; Dai, Jianguo

    2013-01-01

    Predicting disease progression is one of the most challenging problems in prostate cancer research. Adding gene expression data to prediction models that are based on clinical features has been proposed to improve accuracy. In the current study, we applied a logistic regression (LR) model combining clinical features and gene co-expression data to improve the accuracy of the prediction of prostate cancer progression. The top-scoring pair (TSP) method was used to select genes for the model. The proposed models not only preserved the basic properties of the TSP algorithm but also incorporated the clinical features into the prognostic models. Based on the statistical inference with the iterative cross validation, we demonstrated that prediction LR models that included genes selected by the TSP method provided better predictions of prostate cancer progression than those using clinical variables only and/or those that included genes selected by the one-gene-at-a-time approach. Thus, we conclude that TSP selection is a useful tool for feature (and/or gene) selection to use in prognostic models and our model also provides an alternative for predicting prostate cancer progression. PMID:24367394

  15. 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

  16. End-stage coxarthrosis and gonarthrosis. Aetiology, clinical patterns and radiological features of idiopathic osteoarthritis

    Microsoft Academic Search

    J. Chitnavis; J. S. Sinsheimer; M. A. Suchard; K. Clipsham; A. J. Carr

    2000-01-01

    Objectives. To determine and compare the aetiological background, clinical patterns and radiological features of idiopathic osteoarthritis (OA) of the hip and the knee warranting arthroplasty. Methods. A total of 402 Caucasians consecutively undergoing total hip replacement ( THR) or total knee replacement (TKR) for idiopathic OA at a major centre was surveyed. Results. Previous joint injury was more common in

  17. Can simple clinical features be used to identify patients with severe carotid stenosis on Doppler ultrasound?

    Microsoft Academic Search

    Gillian E Mead; Joanna M Wardlaw; Stephanie C Lewis; Michael McDowall; Martin S Dennis

    1999-01-01

    OBJECTIVESCarotid endarterectomy reduces the risk of stroke in symptomatic patients with severe ipsilateral carotid stenosis. Symptomatic patients should therefore undergo carotid Doppler imaging, but in some centres access to imaging is limited. It was therefore investigated whether simple clinical features alone or in combination could be used to identify patients with severe carotid stenosis, so that they could be referred

  18. Clinical features of lupus myositis versus idiopathic myositis: a review of 30 cases

    Microsoft Academic Search

    M. J. GARTON; D. A. ISENBERG

    1997-01-01

    SUMMARY Myositis is a rare but well-recognized complication of systemic lupus erythematosus (SLE). It is reputed to be milder than primary myositis in terms of morbidity and treatment response. This study compares clinical and laboratory features of idio- pathic inflammatory myositis in patients with and without evidence of SLE overlap. We performed a case note review of 30 patients with

  19. Adult onset polymyositis\\/dermatomyositis: clinical and laboratory features and treatment response in 75 patients

    Microsoft Academic Search

    E T Koh; A Seow; B Ong; P Ratnagopal; H Tjia; H H Chng

    1993-01-01

    OBJECTIVES--To determine possible similarities and differences in clinical and laboratory features and treatment response between patients in Singapore with polymyositis (PM) and dermatomyositis (DM) and reported series. METHODS--Case records of adult patients (16 years old and above) referred to the 3 main electromyographic (EMG) laboratories in Singapore between 1 June 1986 and 31 May 1991 were reviewed if the referring

  20. Chronic diarrhoea in infants and young children: Causes, clinical features and outcome

    Microsoft Academic Search

    W. S. Lee; C. C. M. Boey

    1999-01-01

    Objectives: To review the causes, clinical features and outcomes of Malaysian children who had chronic diarrhoea. Methodology: A prospective study was performed on children with diarrhoea of more than 14 days' duration who were managed at the Department of Paediatrics, University of Malaya Medical Centre, Kuala Lumpur from 1 January 1996 to 31 December 1997. Results: Twenty-seven patients (14 boys

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

    PubMed Central

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

    1996-01-01

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

  2. Infantile Hepatic Hemangioendothelioma in Comparison with Hepatoblastoma in Children: Clinical and Ultrasound Features

    PubMed Central

    Pan, Fu-shun; Xu, Ming; Wang, Wei; Zhou, Lu-yao; Xie, Xiao-yan

    2013-01-01

    Background Infantile hepatic hemangioendothelioma (IHH) and hepatoblastoma (HBL) are respectively the most common benign and malignant liver tumors in children. Objectives To study the clinical manifestations and the ultrasound features of the pediatric patients for distinguishing IHH from HBL. Patients and Methods Between 2002 and 2012, thirteen children with IHH and 38 children with HBL under the age of 10 years were included. We retrospectively reviewed the clinical and the ultrasound features of the two groups, especially including parameters as follows: age at diagnosis, gender, alpha-fetoprotein (AFP) elevation, venous involvement and Doppler ultrasound. Results Compared with HBL group, the age of IHH group was much younger (5.8 months vs. 35.1 months, P = 0.000), the AFP elevation was less likely to be detected in IHH group (23.1% vs. 89.5%, P = 0.000). Although the color flow were the same commonly observed (61.5% vs. 52.6%, P > 0.05), the spectral Doppler showed IHH was less likely to appear as arterial flow with resistance index (RI) > 0.7(12.5% vs. 75.0%, P < 0.05), characterized by arterial flow with RI < 0.7 and/or venous flow. Combined the clinical features including age (< 6 months) and normal AFP level yielded high capability in differential diagnosis, with sensitivity, specificity and Youden index of 77% (10/13), 95% (36/38), and 0.72, respectively. When combined clinical features (age and AFP) and spectral Doppler as the diagnostic criterion for distinguishing these cases with positive color flow signals, the sensitivity, specificity, accuracy and Youden Index were 88%, 95%, 89% and 0.83, respectively. Conclusions The clinical features are effective indicators for distinguishing IHH from HBL, and the spectral Doppler may be a useful adjunct parameter for differential diagnosis. PMID:24171008

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

    PubMed Central

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

    2006-01-01

    Objective Wrist injuries are a common presentation to the emergency department (ED). There are no validated decision rules to help clinicians evaluate paediatric wrist trauma. This study aimed to identify which clinical features are diagnostically useful in deciding the need for a wrist radiograph, and then to develop a clinical decision rule. Methods This prospective cohort study was carried out in the ED of Sheffield Children's Hospital. Eligible patients were recruited if presenting within 72?hours following blunt wrist trauma. A standardised data collection form was completed for all patients. The outcome measure was the presence or absence of a fracture. Univariate analysis was performed with the ?2 test. Associated variables (p<0.2) were entered into a multivariate model. Classification and regression tree (CART) analysis was used to derive the clinical decision rule. Results In total, 227 patients were recruited and 106 children were diagnosed with fractures (47%). Of 10 clinical features analysed, six were found by univariate analysis to be associated with a fracture. CART analysis identified the presence of radial tenderness, focal swelling, or an abnormal supination/pronation as the best discriminatory features. Cross fold validation of this decision rule had a sensitivity of 99.1% (95% confidence interval 94.8% to 100%) and a specificity of 24.0% (17.2% to 32.3%). The radiography rate would be 87%. Conclusions Radial tenderness, focal swelling, and abnormal supination/pronation are associated with wrist fractures in children. The clinical decision rule derived from these features had a high sensitivity, but low specificity, and would not substantially alter our current radiography rate. The potential for a clinical decision rule for paediatric wrist trauma appears limited. PMID:16627835

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

    PubMed

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

    2009-12-01

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

  5. Novel CLCN1 Mutations and Clinical Features of Korean Patients with Myotonia Congenita

    PubMed Central

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

    2009-01-01

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

  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. Recurrent Wernicke's Encephalopathy in a 16-Year-Old Girl with Atypical Clinical and Radiological Features.

    PubMed

    Lamdhade, S; Almulla, A; Alroughani, R

    2014-01-01

    Background. Wernicke's Encephalopathy (WE) is a clinical diagnosis with serious neurological consequences. Its occurrence is underestimated in nonalcoholics and is uncommon in adolescents. We aim to draw the attention to a rare case, which had additional clinical and radiological features. Case. A 16-year-old girl presented with three-week history of vomiting secondary to intestinal obstruction. She developed diplopia soon after hospitalization. Neurological evaluation revealed restriction of bilateral lateral recti with horizontal nystagmus, and bilateral limb dysmetria. Brain MRI was normal. She had prompt improvement to thiamine. Four months later, she presented with headache, bilateral severe deafness, and tinnitus. Clinically, she had severe sensorineural hearing loss, bilateral lateral recti paresis, and gait ataxia. CT head showed bilateral caudate nucleus hypodensities. MRI brain revealed gadolinium enhancement of mamillary bodies and vermis. She had significant improvement after IV thiamine. Headache completely resolved while the ocular movements, hearing, and tinnitus improved partially in 72 hours. Conclusions. Recurrent WE in adolescence is uncommon. Headache, tinnitus, and deafness are rare clinical features. Although MRI study shows typical features of WE, the presence of bilateral caudate nuclei hypodensities on CT scan is uncommon. Prompt treatment with thiamine is warranted in suspected cases to prevent permanent neurological sequelae. PMID:24790762

  8. Recurrent Wernicke's Encephalopathy in a 16-Year-Old Girl with Atypical Clinical and Radiological Features

    PubMed Central

    Lamdhade, S.; Almulla, A.; Alroughani, R.

    2014-01-01

    Background. Wernicke's Encephalopathy (WE) is a clinical diagnosis with serious neurological consequences. Its occurrence is underestimated in nonalcoholics and is uncommon in adolescents. We aim to draw the attention to a rare case, which had additional clinical and radiological features. Case. A 16-year-old girl presented with three-week history of vomiting secondary to intestinal obstruction. She developed diplopia soon after hospitalization. Neurological evaluation revealed restriction of bilateral lateral recti with horizontal nystagmus, and bilateral limb dysmetria. Brain MRI was normal. She had prompt improvement to thiamine. Four months later, she presented with headache, bilateral severe deafness, and tinnitus. Clinically, she had severe sensorineural hearing loss, bilateral lateral recti paresis, and gait ataxia. CT head showed bilateral caudate nucleus hypodensities. MRI brain revealed gadolinium enhancement of mamillary bodies and vermis. She had significant improvement after IV thiamine. Headache completely resolved while the ocular movements, hearing, and tinnitus improved partially in 72 hours. Conclusions. Recurrent WE in adolescence is uncommon. Headache, tinnitus, and deafness are rare clinical features. Although MRI study shows typical features of WE, the presence of bilateral caudate nuclei hypodensities on CT scan is uncommon. Prompt treatment with thiamine is warranted in suspected cases to prevent permanent neurological sequelae. PMID:24790762

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

    PubMed Central

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

    2012-01-01

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

  10. Clinical Report of a 17q12 Microdeletion with Additionally Unreported Clinical Features

    PubMed Central

    Roberts, Jennifer L.; Gandomi, Stephanie K.; Parra, Melissa; Lu, Ira; Gau, Chia-Ling; Dasouki, Majed; Butler, Merlin G.

    2014-01-01

    Copy number variations involving the 17q12 region have been associated with developmental and speech delay, autism, aggression, self-injury, biting and hitting, oppositional defiance, inappropriate language, and auditory hallucinations. We present a tall-appearing 17-year-old boy with marfanoid habitus, hypermobile joints, mild scoliosis, pectus deformity, widely spaced nipples, pes cavus, autism spectrum disorder, intellectual disability, and psychiatric manifestations including physical and verbal aggression, obsessive-compulsive behaviors, and oppositional defiance. An echocardiogram showed borderline increased aortic root size. An abdominal ultrasound revealed a small pancreas, mild splenomegaly with a 1.3?cm accessory splenule, and normal kidneys and liver. A testing panel for Marfan, aneurysm, and related disorders was negative. Subsequently, a 400?K array-based comparative genomic hybridization (aCGH) + SNP analysis was performed which identified a de novo suspected pathogenic deletion on chromosome 17q12 encompassing 28 genes. Despite the limited number of cases described in the literature with 17q12 rearrangements, our proband's phenotypic features both overlap and expand on previously reported cases. Since syndrome-specific DNA sequencing studies failed to provide an explanation for this patient's unusual habitus, we postulate that this case represents an expansion of the 17q12 microdeletion phenotype. Further analysis of the deleted interval is recommended for new genotype-phenotype correlations. PMID:24991439

  11. Social and clinical features as predictors of outcome in outpatient alcohol withdrawal

    Microsoft Academic Search

    Patrick G. O’Connor; Louis D. Gottlieb; Mark L. Kraus; Sam R. Segal; Ralph I. Horwitz

    1991-01-01

    Objective:To identify patient features — both social and clinical — that may be associated with treatment failure in outpatient alcohol\\u000a withdrawal.\\u000a \\u000a Design:A prospective observational cohort study of patients who underwent outpatient management of the alcohol withdrawal syndrome.\\u000a \\u000a \\u000a \\u000a Setting:Community hospital-based outpatient alcohol treatment program.\\u000a \\u000a \\u000a \\u000a Patients:The 179 patients who were eligible for and participated in a clinical trial of drug therapy for

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

    PubMed

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

    2015-06-01

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

  13. Surficial properties in Melas Chasma, Mars, from Mars Odyssey THEMIS data

    Microsoft Academic Search

    Shannon M Pelkey; Bruce M Jakosky; Philip R Christensen

    2003-01-01

    We examine the nature of the surface layer in a small area of the Melas Chasma region as determined from high-resolution thermal and visible Mars Odyssey Thermal Emission Imaging System (THEMIS) data as well as how our conclusions compare to past analyses. At THEMIS resolution, the thermal structure is dominated by local control and all significant thermal variations can be

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

    NASA Astrophysics Data System (ADS)

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

    2015-03-01

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

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

    E-print Network

    Deitz, Kevin

    2012-02-14

    the ND4 and ND5 regions of the mtDNA showed that differentiation between An. melas population clusters is on par with levels of differentiation between member species of the An. gambiae complex, with low support for internal nodes in a maximum likelihood...

  16. The A3243G tRNALeu(UUR) MELAS mutation causes

    E-print Network

    Shoubridge, Eric

    , Montreal, QC H3A 2B4, Canada and 2 Department of Human Genetics, McGill University, Montreal, QC H3A 2B4 translation products remains controversial. We tested this hypothesis in homoplasmic mutant myoblasts isolated (mater- nally inherited diabetes and deafness) (8­10). All A3243G MELAS patients described

  17. 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.

  18. Distinctive epidemiologic and clinical features of common krait (Bungarus caeruleus) bites in Sri Lanka.

    PubMed

    Ariaratnam, Christeine A; Sheriff, M H Rezvi; Theakston, R David G; Warrell, David A

    2008-09-01

    A prospective study was designed to define epidemiologic and clinical features of krait bites to improve diagnosis, management, and prevention. Among 762 cases of venomous snake bites admitted to 10 Sri Lankan hospitals in which the snake responsible was brought and identified, 88 (11.5%) were caused by common kraits (Bungarus caeruleus). Bites were: most frequent in September through November. Distinctive features of B. caeruleus bites (compared with bites by other species in parentheses) were bitten while sleeping on the ground, 100% (1%); indoors, 100% (49%); between 2300 and 0500 hours, 100% (3%). Only 13% of krait victims were bitten on their lower limbs (82%), only 9% had local swelling (in all cases mild) at the site of the bite (93%), 64% developed respiratory paralysis (2%), and 91% experienced (often severe) abdominal pain (10%). Case fatality was 6% (3%). This distinctive pattern of epidemiology and symptoms will aid clinical recognition (syndromic diagnosis) and prevention of krait bite envenoming. PMID:18784244

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

    PubMed Central

    Marzuka, Alexander G.; Book, Samuel E.

    2015-01-01

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

  20. Intra-articular ganglion cysts of the knee: clinical and MR imaging features

    Microsoft Academic Search

    M. G. Kim; Baek Hyun Kim; Jung-Ah Choi; Nam Joon Lee; Kyoo Byung Chung; Y. S. Choi; Sung Bum Cho; Hong Chul Lim; W. H. Cho

    2001-01-01

    The purpose of this study was to present clinical and MR imaging features of intra-articular ganglion cysts of the knee.\\u000a Retrospective review of 1685 consecutive medical records and MR examinations of the knee performed at three imaging centers\\u000a allowed identification of 20 patients (13 men and 7 women; mean age 35 years), in whom evidence of intra-articular ganglion\\u000a cyst was

  1. Adult Bochdalek hernia—Clinical features, management and results of treatment

    Microsoft Academic Search

    Shaji Thomas; Brij Kapur

    1991-01-01

    We herein present 2 cases of adult Bochdalek hernia. Only a total of 51 such cases have been reported since 1958, and we have\\u000a reviewed these cases and discussed their clinical features, operative treatment and final outcome. The majority of these patients\\u000a presented as acute surgical emergencies and a lack of awareness of this condition lead to an incorrect diagnosis

  2. Clinical Features of Polypoidal Choroidal Vasculopathy and Visual Outcomes in the Absence of Classic Choroidal Neovascularization

    Microsoft Academic Search

    Seijo Yamaoka; Annabelle A. Okada; Michitaka Sugahara; Tetsuo Hida

    2010-01-01

    Background\\/Aims: To report on the clinical features of polypoidal choroidal vasculopathy (PCV) and to delineate visual outcomes in the absence of classic choroidal neovascularization (CNV). Methods: Records were retrospectively reviewed of 233 eyes of 215 patients diagnosed with ‘definite’ PCV using Japanese criteria. Results: Of patients with definite PCV, 72.1% were men and 91.6% had unilateral disease. A history of

  3. Cytomegalovirus gB Genotype and Clinical Features in Chinese Infants with Congenital Infections

    Microsoft Academic Search

    Zhong Sheng Yu; Chao Chun Zou; Ji Yan Zheng; Zheng Yan Zhao

    2006-01-01

    Objective: To investigate cytomegalovirus (CMV) glycoprotein B (gB) genotypes and clinical features in Chinese infants with congenital infections. Methods: Urine samples were obtained from 79 infants with human CMV infection confirmed by quantitative fluorescence polymerase chain reaction (PCR). A fragment of the gB gene was amplified by nested PCR. CMV gB genotyping was carried out by restriction fragment length polymorphism,

  4. Putative role of specific JAG1 gene exons in modulating clinical features in patients with leukoencephalopathy

    Microsoft Academic Search

    Carmine Ungaro; Teresa Sprovieri; Francesca L. Conforti; Maria Muglia; Alessandra Patitucci; Angela Magariello; Anna L. Gabriele; Aldo Quattrone; Rosalucia Mazzei

    2007-01-01

    The aim of this study was to investigate the possible role of JAG1 gene mutations in modulating clinical features in patients with CADASIL-like phenotype which resulted negative for NOTCH3 gene mutations. Sixty-six CADASIL-like patients without NOTCH3 gene mutations were investigated for 5 out of 26 exons of the JAG1 gene, whose mutations were implicated in central nervous system vascular abnormalities.

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

    PubMed Central

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

    2015-01-01

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

  6. Clinical and immunological features of systemic lupus erythematosus complicated by Jaccoud's arthropathy.

    PubMed

    Takeishi, M; Mimori, A; Suzuki, T

    2001-03-01

    Abstract This work was undertaken to evaluate clinical and immunological features in patients with systemic lupus erythematosus (SLE) complicated by Jaccoud's arthropathy. Patients diagnosed with SLE between 1985 and 1999, and who met the criteria of Villiaumey et al., were checked for Jaccoud's arthropathy. Clinical features were retrospectively analysed for patients with both diseases. Sjögren's syndrome and human leukocyte antigens (HLA) in these patients were evaluated. Jaccoud's arthropathy was found in 15 (4.4%) of 340 patients with SLE. The mean age at the time of SLE diagnosis was significantly higher in these patients than in our control SLE patients, which was 51.2 ± 13.0 years (n = 15) and 29.6 ± 13.0 years (n = 222) (p = 2.1 × 10(-8)). Sjögren's syndrome was diagnosed according to the European Community Study Group's criteria in 10 (91%) of 11 patients examined. The incidence of HLA-A11 (5/9, 55%) and -B61(40) (5/9, 55%) in patients with Jaccoud's arthropathy was higher in the Japanese population (A11, 17.4%, p < 0.05; B61, 17.5%, p < 0.057. Jaccoud's arthropathy in patients with SLE is associated with Sjögren's syndrome, elderly SLE, HLA-A11, and HLA-B61. These clinical features might be characteristic of patients with Jaccoud's arthropathy and SLE. PMID:24387020

  7. The spectrum of pyruvate dehydrogenase complex deficiency: Clinical, biochemical and genetic features in 371 patients

    PubMed Central

    Patel, Kavi P.; O’Brien, Thomas W.; Subramony, Sankarasubramon H.; Shuster, Jonathan; Stacpoole, Peter W.

    2014-01-01

    Context Pyruvate dehydrogenase complex (PDC) deficiency is a genetic mitochondrial disorder commonly associated with lactic acidosis, progressive neurological and neuromuscular degeneration and, usually, death during childhood. There has been no recent comprehensive analysis of the natural history and clinical course of this disease. Objective We reviewed 371 cases of PDC deficiency, published between 1970 and 2010, that involved defects in subunits E1? and E1? and components E1, E2, E3 and the E3 binding protein of the complex. Data sources and extraction English language peer-reviewed publications were identified, primarily by using PubMed and Google Scholar search engines. Results Neurodevelopmental delay and hypotonia were the commonest clinical signs of PDC deficiency. Structural brain abnormalities frequently included ventriculomegaly, dysgenesis of the corpus callosum and neuroimaging findings typical of Leigh syndrome. Neither gender nor any clinical or neuroimaging feature differentiated the various biochemical etiologies of the disease. Patients who died were younger, presented clinically earlier and had higher blood lactate levels and lower residual enzyme activities than subjects who were still alive at the time of reporting. Survival bore no relationship to the underlying biochemical or genetic abnormality or to gender. Conclusions Although the clinical spectrum of PDC deficiency is broad, the dominant clinical phenotype includes presentation during the first year of life; neurological and neuromuscular degeneration; structural lesions revealed by neuroimaging; lactic acidosis and a blood lactate:pyruvate ratio?20. PMID:22896851

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

    PubMed

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

    2015-01-01

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

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

    PubMed Central

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

    2015-01-01

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

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

    PubMed

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

    2014-03-16

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

  11. Clinical Features and Molecular Analysis of Hb H Disease in Taiwan

    PubMed Central

    Chao, Yu-Hua; Wu, Kang-Hsi; Wu, Han-Ping; Liu, Su-Ching; Peng, Ching-Tien; Lee, Maw-Sheng

    2014-01-01

    Thalassemia is highly prevalent in Taiwan, but limited data are available about the association between genotypes and clinical manifestations in Taiwanese patients with Hb H disease. Here, we studied ?-globin gene abnormalities and clinical features in Taiwanese patients with Hb H disease. Of the 90 patients, sixty-four (71.1%) were deletional and twenty-six (28.9%) were nondeletional Hb H disease. The (-?-SEA) type of ?0-thalassemia mutation was detected in the majority of patients (>95%). The most common genotype was (-?-SEA/-?3.7), followed by (-?-SEA/?cs?). After further investigation of the genotype-phenotype correlation in 68 patients, we found that patients with nondeletional Hb H disease had more severe clinical features than those with deletional Hb H disease, including younger age at diagnosis, more requirement of blood transfusions, and larger proportion of patients with splenomegaly, hepatomegaly or jaundice. This is probably a consequence of the lower hemoglobin levels and the higher Hb H levels. The clinical severity was highly variable even among patients with an identical genotype, and the diversity was much more profound among patients with (-?-/?cs?) genotype. Therefore, predicting the phenotype directly from the genotype in Hb H disease remains relatively difficult in Taiwan. PMID:25309906

  12. Clinical Features, Laboratory Findings and Management of Meningococcal Meningitis in England and Wales: Report of a 1997 Survey

    Microsoft Academic Search

    L. Ragunathan; M. Ramsay; R. Borrow; M. Guiver; S. Gray; E. B. Kaczmarski

    2000-01-01

    Objectives: To describe the epidemiological, clinical and laboratory features of meningococcal meningitis and the effects of antibiotics on laboratory investigations under current clinical practices in England and Wales.Methods: Using a telephone questionnaire, information was gathered on 103 cases with a clinical diagnosis of meningococcal meningitis. Included were cases with samples submitted to the Public Health Laboratory Service (PHLS), Meningococcal Reference

  13. Segmental and Generalized Vitiligo: Both Forms Demonstrate Inflammatory Histopathological Features and Clinical Mosaicism

    PubMed Central

    Attili, Venkat Ratnam; Attili, Sasi Kiran

    2013-01-01

    Background: Segmental vitiligo (SV) and generalized vitiligo (GV) are perceived to evolve by different mechanisms, the former with unspecified neural mechanisms and the latter by melanocyte specific autoimmune mechanisms. However, the two diverse mechanisms are difficult to reconcile in cases of “mixed vitiligo”. To test the possibility of a common pathogenesis, we reviewed clinical and histopathological features of SV and GV. Materials and Methods: As part of an ongoing histopathological study on vitiligo and vitiligo like lesions, over a 10 year period from 2002 to 2011, biopsies were taken routinely from evolving or recently evolved lesions. 50 cases of SV with quasi-dermatomal distribution and 154 cases of GV were identified and the clinical and histopathological features were compared. Results: Mild clinical inflammation was recorded in 33 of 154 GV cases but, none among 50 SV had such features. In addition to bilateral symmetrical involvement, mirror image lesions with unusual segmentation were observed in nine cases of GV. SV with a few bilateral lesions (4) and GV with quasi-dermatomal lesions (3), i.e., mixed vitiligo, were included in their corresponding groups for analytical purposes. Focal lichenoid inflammation of varying degrees around epidermal/adnexal melanocytes was identified as a common feature in evolving lesions of both SV (78%) and GV (70%). Conclusions: SV and GV demonstrated a similar inflammatory histopathological spectrum. “Segmentation/mosaicism”, identified for the first time in GV is another unifying factor. Cutaneous mosaicism harboring fragile melanocyte populations, which are susceptible to external as well as auto-inflammatory mechanisms, is an attractive hypothesis to pursue in the causation of vitiligo. PMID:24249893

  14. Clinical features of post-infectious bronchiolitis obliterans in children undergoing long-term azithromycin treatment

    PubMed Central

    WANG, XUEYAN; LIU, CHANGSHAN; WANG, MENGJUAN; ZHANG, YI; LI, HEWEN; LIU, GELI

    2015-01-01

    The aim of the present study was to outline any predisposing factors and clinical and radiological features of post-infectious bronchiolitis obliterans (PIBO) in pediatric patients, and to determine the effect of long-term azithromycin treatment on these factors. In total, 16 cases of children with PIBO were retrospectively reviewed. Adenovirus and Mycoplasma pneumoniae were the most common etiological agents (12/16) in the children with PIBO. The patients presented with persistent dyspnea, a chronic cough, sputum production and wheezing following the initial lung infection. Chest X-rays indicated pulmonary overinflation and patchy ground-glass opacity. In addition, high-resolution computed tomography (HRCT) scans revealed patchy ground-glass opacity, bronchiectasis, bronchial wall thickening and mosaic perfusion in all 16 cases. A unilateral hyperlucent lung was observed in two cases. All the patients underwent treatment with low-dose azithromycin and prednisone. Follow-up examinations of the 16 cases, varying in duration between 7 and 31 months, showed that the disease condition had improved in 10 cases. However, no significant improvements were identified from the HRCT scans or were observed in the patient condition in the additional six cases. The diagnosis of BO is primarily based on a typical clinical presentation and HRCT observations. Therefore, a typical clinical history and patchy ground-glass opacity features on HRCT scans are screening indices that predict BO development. Steroids are the cornerstone of BO treatment; however, long-term azithromycin treatment can improve the condition of the patients. In summary, PIBO is a disease with a high morbidity rate and should be treated by a multidisciplinary team. Patients should receive follow-up examination for an extended period. Patchy ground-glass opacity features on HRCT scans indicate that clinical suspicion of BO is necessary in children with persistent and severe wheezing. PMID:26136991

  15. 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

  16. Intensive care unit-acquired bacteremia in mechanically ventilated patients: clinical features and outcomes.

    PubMed

    Ko, Hsin-Kuo; Yu, Wen-Kuang; Lien, Te-Cheng; Wang, Jia-Horng; Slutsky, Arthur S; Zhang, Haibo; Kou, Yu Ru

    2013-01-01

    Intensive care unit (ICU)-acquired bacteremia (IAB) is associated with high medical expenditure and mortality. Mechanically ventilated patients represent one third of all patients admitted to ICU, but the clinical features and outcomes in mechanically ventilated patients who develop IAB remain unknown. We conducted a 3-year retrospective observational cohort study, and 1,453 patients who received mechanical ventilation on ICU admission were enrolled. Among patients enrolled, 126 patients who had developed IAB ?48 hours after ICU admission were identified. The study patients were divided into IAB and no IAB groups, and clinical characteristics of IAB based on specific bacterial species were further analyzed. The multivariate Cox regression analysis showed that ventilator support for chronic obstructive pulmonary disease and congestive heart failure, and patients admitted from nursing home were the independent risk factors for developing IAB. Patients with IAB were significantly associated with longer length of ICU stay, prolonged ventilator use, lower rate of successful weaning, and higher rate of ventilator dependence and ICU mortality as compared to those without IAB. IAB was the independent risk factor for ICU mortality (HR, 1.510, 95% CI 1.054-1.123; p?=?0.010). The clinical characteristics of IAB related to specific bacterial species included IAB due to Pseudomonas aeruginosa being likely polymicrobial, lung source and prior antibiotic use; Escherichia coli developing earlier and from urinary tract source; methicillin-resistant Staphylococcus aureus related to central venous catheter and multiple sets of positive hemoculture; and Elizabethkingia meningoseptica significantly associated with delayed/inappropriate antibiotic treatment. In summary, IAB was significantly associated with poor patient outcomes in mechanically ventilated ICU patients. The clinical features related to IAB and clinical characteristics of IAB based on specific bacterial species identified in our study may be utilized to refine the management of IAB. PMID:24376683

  17. 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.

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

    PubMed

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

    2013-11-01

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

  19. Correlation between clinical features and magnetic resonance imaging findings in lumbar disc prolapse

    PubMed Central

    Janardhana, Aithala P; Rajagopal; Rao, Sharath; Kamath, Asha

    2010-01-01

    Background: Lumbar disc prolapse is one of the common causes of low back pain seen in the working population. There are contradictorty reports regarding the clinical significance of various magnetic resonance imaging (MRI) findings observed in these patients. The study was conducted to correlate the abnormalities observed on MRI and clinical features of lumbar disc prolapse. Materials and Methods: 119 clinically diagnosed patients with lumbar disc prolapse were included in the study. Clinical evaluation included pain distribution, neurological symptoms and signs. MR evaluation included grades of disc degeneration, type of herniation, neural foramen compromise, nerve root compression, and miscellaneous findings. These MRI findings were tested for inter- and intraobserver variability. The MRI findings were then correlated with clinical symptoms and the level of disc prolapse as well as neurological signs and symptoms. Statistical analysis included the Kappa coefficient, Odd’s ratio, and logistic regression analysis. Results: There were no significant inter- or intraobserver variations for most of MRI findings (Kappa value more than 0.5) except for type of disc herniation which showed a interobserver variation of 0.46 (Kappa value). The clinical level of pain distribution correlated well with the MRI level (Kappa 0.8), but not all disc bulges produced symptoms. Central bulges and disc protrusions with thecal sac compression were mostly asymptomatic, while centrolateral protrusions and extrusions with neural foramen compromise correlated well with the dermatomal distribution of pain. Root compression observed in MRI did not produce neurological symptoms or deficits in all patients but when deficits were present, they correlated well with the presence of root compression in MRI. Multiple level disc herniations with foramen compromise were strongly associated with the presence of neurological signs. Conclusions: The presence of centrolateral protrusion or extrusion with gross foramen compromise correlates with clinical signs and symptoms very well, while central bulges and disc protrusions correlate poorly with clinical signs and symptoms. The presence of neural foramen compromise is more important in determining the clinical signs and symptoms while type of disc herniation (bulge, protrusion, or extrusion) correlates poorly with clinical signs and symptoms. PMID:20697478

  20. Clinical Features and Types of Von Willebrand Disease in Women with Menorrhagia Referred to Hematology Clinic of Kermanshah

    PubMed Central

    Payandeh, Mehrdad; Rahimi, Zohreh; Kansestani, Atefeh Nasir; Hemmati, Shahrooz; Aleyasin, Mahnaz; Zare, Mohammad Erfan; Nouri, Zohreh; Hashemian, Amir Hossein; Gohardehi, Farzad

    2013-01-01

    Menorrhagia is the most common symptom that is experienced by women with bleeding disorders. Von Willebrand disease (VWD) is the most common congenital human bleeding disorder that is manifested as a quantitative deficiency in Von Willebrand factor (VWF) or dysfunction of this factor. The frequency of VWD is similar in both men and women. However, VWD is more readily detected in women due to the presence of severe bleeding associated with menstrual cycles and childbirth. The present study was carried out to find the frequency of VWD, its types, and clinical features of the disease among women with menorrhagia who referred to the Hematology Clinic of the Kermanshah University of Medical Sciences. The study comprised 482 women with menorrhagia. After excluding patients with confounding factors, 56 (11.6%) patients were evaluated for inherited bleeding disorders. We detected 31 (55.3%) patients with VWD. Type 3 of VWD was the most frequent subtype (45.2%) followed in frequency by type 2 (32.3%), and type 1 (22.5%). In conclusion, our study indicated that menorrhagia can be the first symptom of VWD. Therefore, rare coagulation disorders should be considered in women with idiopathic menorrhagia, particularly in regions with high rates of consanguinity. PMID:24505520

  1. Pneumocystis pneumonia in patients with HIV infection: clinical manifestations, laboratory findings, and radiological features.

    PubMed

    Fujii, Takeshi; Nakamura, Tetsuya; Iwamoto, Aikichi

    2007-02-01

    Pneumocystis pneumonia (PCP) remains the most common opportunistic infection in patients with acquired immunodeficiency syndrome (AIDS). Familiarity with the clinical features of PCP is crucial for prompt diagnosis, even if the patient is unaware of their HIV serostatus. We describe herein the clinical features of 34 episodes in 32 patients with AIDS-associated PCP and review the existing literature. As for symptoms, the frequency of fever, cough, and dyspnea was 74%, 74%, and 65%, respectively, and the complete triad was present in only 14 of the 34 episodes on first examination. Median duration from onset of symptoms until diagnosis was 3 weeks, and AIDS-associated PCP tended to take an insidious clinical course. Although laboratory findings were generally nonspecific, measurement of beta-D-glucan levels in the serum or plasma was highly useful in the diagnosis of PCP. All but 1 of the patients showed beta-D-glucan levels higher than the cutoff value (median, 147 pg/ml; range, 5-6920 pg/ml). Typical radiographic features of PCP are bilateral, symmetrical ground-glass opacities, but a wide variety of radiographic findings were observed. In our patients, high-resolution computed tomography (HRCT) of the lung showed ground-glass opacities sparing the lung periphery (41% of episodes) or displaying a mosaic pattern (29%), or being nearly homogeneous (24%), ground-glass opacities associated with air-space consolidation (21%), associated with cystic formation (21%), associated with linear-reticular opacities (18%), patchily and irregularly distributed (15%), associated with solitary or multiple nodules (9%), and associated with parenchymal cavity lesions (6%). PMID:17334722

  2. 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

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

    PubMed Central

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

    2015-01-01

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

  4. 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

  5. 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

  6. Clinical features and management of carboplatin-related hypersensitivity reactions in pediatric low-grade glioma

    Microsoft Academic Search

    Dildar Bahar Genc; Cengiz Canpolat; Su Gulsun Berrak

    Purpose  The effectiveness of carboplatin and vincristine chemotherapy in the treatment of low-grade glioma (LGG) is well established.\\u000a However, carboplatin hypersensitivity reactions (CHR) are a major problem leading to premature cessation of therapy. We aimed\\u000a to investigate the clinical features and the management strategies in CHR, retrospectively.\\u000a \\u000a \\u000a \\u000a \\u000a Method  Fifty LGG patients treated between October 1997 and January 2008 with carboplatin and vincristine

  7. Clinical and neuropathological features of the Arctic APP mutation causing early onset Alzheimer's disease

    PubMed Central

    Basun, Hans; Bogdanovic, Nenad; Ingelsson, Martin; Almkvist, Ove; Näslund, Jan; Axelman, Karin; Bird, Thomas D.; Nochlin, David; Schellenberg, Gerard D.; Wahlund, Lars-Olof; Lannfelt, Lars

    2009-01-01

    Background A majority of mutations within the amyloid ? (A?) region of the amyloid precursor protein (APP) gene cause inherited forms of intracerebral haemorrhage. Most of these mutations may also cause cognitive impairment, but the Arctic APP mutation is the only known intra-A? mutation to date causing the more typical clinical picture of Alzheimer's disease (AD). Objective To describe features of one Swedish and one American family with the previously reported Arctic APP mutation. Subjects Affected and non-affected carriers of the Arctic APP mutation from the Swedish and American families were investigated clinically. In addition, one brain from each family was investigated neuropathologically. Results The clinical picture, with age at disease onset in the sixth to seventh decade of life and dysfunction in multiple cognitive areas, is indicative of AD and similar to the phenotype for other AD APP mutations. Several affected mutation carriers displayed general brain atrophy and reduced blood flow of the parietal lobe, as demonstrated by magnetic resonance imaging and single photon emission computed tomography. One Swedish and one American case with the Arctic APP mutation have come to autopsy, neither of which showed any signs of haemorrhage but revealed severe congophilic angiopathy, region-specific neurofibrillary tangle pathology as well as abundant amyloid plaques. Intriguingly, a majority of plaques from both of these cases had a characteristic ring-like character. Conclusions Overall, our findings corroborate that the Arctic APP mutation causes a clinical and neuropathological picture compatible with AD. PMID:18413473

  8. Idiopathic partial epilepsy with auditory features (IPEAF): a clinical and genetic study of 53 sporadic cases.

    PubMed

    Bisulli, F; Tinuper, P; Avoni, P; Striano, P; Striano, S; d'Orsi, G; Vignatelli, L; Bagattin, A; Scudellaro, E; Florindo, I; Nobile, C; Tassinari, C A; Baruzzi, A; Michelucci, R

    2004-06-01

    The purpose of our study was to describe the clinical characteristics of sporadic (S) cases of partial epilepsy with auditory features (PEAF) and pinpoint clinical, prognostic and genetic differences with respect to previously reported familial (F) cases of autosomal dominant partial epilepsy with auditory features (ADPEAF). We analysed 53 patients (24 females and 29 males) with PEAF diagnosed according to the following criteria: partial epilepsy with auditory symptoms, negative family history for epilepsy and absence of cerebral lesions on NMR study. All patients underwent a full clinical, neuroradiological and neurophysiological examination. Forty patients were screened for mutations in LGI1/epitempin, which is involved in ADPEAF. Age at onset ranged from 6 to 39 years (average 19 years). Secondarily generalized seizures were the most common type of seizures at onset (79%). Auditory auras occurred either in isolation (53%) or associated with visual, psychic or aphasic symptoms. Low seizure frequency at onset and good drug responsiveness were common, with 51% of patients seizure-free. Seizures tended to recur after drug withdrawal. Clinically, no major differences were found between S and F patients with respect to age at onset, seizure frequency and response to therapy. Analysis of LGI1/epitempin exons failed to disclose mutations. Our data support the existence of a peculiar form of non-lesional temporal lobe epilepsy closely related to ADPEAF but without a positive family history. This syndrome, here named IPEAF, has a benign course in the majority of patients and could be diagnosed by the presence of auditory aura. Although LGI1 mutations have been excluded, genetic factors may play an aetiopathogenetic role in at least some of these S cases. PMID:15090473

  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. Distinguishing malaria and influenza: Early clinical features in controlled human experimental infection studies?

    PubMed Central

    Lillie, Patrick J.; Duncan, Christopher J.A.; Sheehy, Susanne H.; Meyer, Joel; O'Hara, Geraldine A.; Gilbert, Sarah C.; Hill, Adrian V.S.

    2012-01-01

    Summary During the H1N1 influenza pandemic (pH1N1/09) diagnostic algorithms were developed to guide antiviral provision. However febrile illnesses are notoriously difficult to distinguish clinically. Recent evidence highlights the importance of incorporating travel history into diagnostic algorithms to prevent the catastrophic misdiagnosis of life-threatening infections such as malaria. We applied retrospectively the UK pH1N1/09 case definition to a unique cohort of healthy adult volunteers exposed to Plasmodium falciparum malaria or influenza to assess the predictive value of this case definition, and to explore the distinguishing clinical features of early phase infection with these pathogens under experimental conditions. For influenza exposure the positive predictive value of the pH1N1/09 case definition was only 0.38 (95% CI: 0.06–0.60), with a negative predictive value of 0.27 (95% CI: 0.02–0.51). Interestingly, 8/11 symptomatic malaria-infected adults would have been inappropriately classified with influenza by the pH1N1/09 case definition, while 5/8 symptomatic influenza-exposed volunteers would have been classified without influenza (P = 0.18 Fisher's exact). Cough (P = 0.005) and nasal symptoms (P = 0.001) were the only clinical features that distinguished influenza-exposed from malaria-exposed volunteers. An open mind regarding the clinical cause of undifferentiated febrile illness, particularly in the absence of upper respiratory tract symptoms, remains important even during influenza pandemic settings. These data support incorporating travel history into pandemic algorithms. PMID:22531678

  11. 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

  12. Severe myoclonic epilepsy of infancy (Dravet syndrome): Clinical and genetic features of nine Turkish patients

    PubMed Central

    Özmen, Meral; Dilber, Cengiz; Tatl?, Burak; Ayd?nl?, Nur; Çal??kan, Mine; Ekici, Bar??

    2011-01-01

    Purpose: Mutations of the ?-1 subunit sodium channel gene (SCN1A) cause severe myoclonic epilepsy of infancy (SMEI). To date, over 300 mutations related to SMEI have been described. In the present study, we report new SCN1A mutations and the clinical features of SMEI cases. Materials and Methods: We studied the clinical and genetic features of nine patients diagnosed with SMEI at the Pediatric Neurology Department of Istanbul Medical Faculty. Results: Five patients had nonsense mutations, two had missense mutations, one had a splice site mutation and one had a deletion mutation of the SCN1A gene. Mutations at c.3705+5G splice site, p.trip153X nonsense mutation and deletion at c.2416_2946 have not been previously described. The seizures started following whole cell pertussis vaccination in all patients. The seizures ceased in one patient and continued in the other eight patients. Developmental regression was severe in three patients, with frequent status epilepticus. The type of mutation was not predictive for the severity of the disease. Two of the three patients with severe regression had nonsense and missense mutations. Conclusions: Dravet syndrome can be result of several different types of mutation in SCN1A gene. Onset of the seizures after pertussis vaccination is an important clue for the diagnosis and neuro- developmental delay should be expected in all patients. PMID:22028529

  13. Clinical Features and Outcome of Patients With IRAK-4 and MyD88 Deficiency

    PubMed Central

    Picard, Capucine; von Bernuth, Horst; Ghandil, Pegah; Chrabieh, Maya; Levy, Ofer; Arkwright, Peter D.; McDonald, Douglas; Geha, Raif S.; Takada, Hidetoshi; Krause, Jens C.; Creech, C. Buddy; Ku, Cheng-Lung; Ehl, Stephan; Ma?odi, ?asz?o; Al-Muhsen, Saleh; Al-Hajjar, Sami; Al-Ghonaium, Abdulaziz; Day-Good, Noorbibi K.; Holland, Steven M.; Gallin, John; Chapel, Helen; Speert, David P.; Rodriguez-Gallego, Carlos; Colino, Elena; Garty, Ben-Zion; Roifman, Chaim; Hara, Toshiro; Yoshikawa, Hideto; Nonoyama, Shigeaki; Domachowske, Joseph; Issekutz, Andrew C.; Tang, Mimi; Smart, Joanne; Zitnik, Simona Eva; Hoarau, Cyrille; Kumararatne, Dinakantha; Thrasher, Adrian; Davies, E. Graham; Bethune, Claire; Sirvent, Nicolas; de Ricaud, Dominique; Camcioglu, Yildiz; Vasconcelos, J?ulia; Guedes, Margarida; Vitor, Artur Bonito; Rodrigo, Carlos; AlmaŸan, Francisco; ?endez, Maria; A?ostegui, Juan Ignacio; Alsina, Laia; Fortuny, Claudia; Reichenbach, Janine; Verbsky, James W; Bossuyt, Xavier; Doffinger, Rainer; Abel, Laurent; Puel, Anne; Casanova, Jean-Laurent

    2011-01-01

    Autosomal recessive interleukin-1 receptor-associated kinase (IRAK)-4 and myeloid differentiation factor (MyD)88 deficiencies impair Toll-like receptor (TLR)- and interleukin-1 receptor-mediated immunity. We documented the clinical features and outcome of 48 patients with IRAK-4 deficiency and 12 patients with MyD88 deficiency, from 37 kindreds in 15 countries. The clinical features of IRAK-4 and MyD88 deficiency were indistinguishable. There were no severe viral, parasitic, and fungal diseases, and the range of bacterial infections was narrow. Noninvasive bacterial infections occurred in 52 patients, with a high incidence of infections of the upper respiratory tract and the skin, mostly caused by Pseudomonas aeruginosa and Staphylococcus aureus, respectively. The leading threat was invasive pneumococcal disease, documented in 41 patients (68%) and causing 72 documented invasive infections (52.2%). P. aeruginosa and Staph. aureus documented invasive infections also occurred (16.7% and 16%, respectively, in 25% and 25% of patients). Systemic signs of inflammation were usually weak or delayed. The first invasive infection occurred before the age of 2 years in 53 (88.3%) and in the neonatal period in 19 (32.7%) patients. Multiple or recurrent invasive infections were observed in most survivors (n = 36/50, 72%). PMID:21057262

  14. The Clinical Features and Bacteriological Characterizations of Bone and Joint Tuberculosis in China

    PubMed Central

    Chen, Su-Ting; Zhao, Li-Ping; Dong, Wei-Jie; Gu, Yun-Ting; Li, Yun-Xu; Dong, Ling-Ling; Ma, Yi-Feng; Qin, Shi-Bing; Huang, Hai-Rong

    2015-01-01

    Bone and Joint tuberculosis (BJTB) constitutes about 10% of total extra-pulmonary TB cases. Since the BJTB is a paucibacillary condition, there has been no systematic study on the bacterial characterization, especially the epidemiological feature. Here we collected the mycobacterial clinical isolates, analyzed the clinical features and the bacteriological characteristics from 113 BJTB cases reported in China. The mean age of the cases was 40.33 years while most of the patients fell into the 20–29 year age group; local pain was the most common onset symptom of BJTB cases; mean time from symptom onset to BJTB diagnosis was 13.16 months. 31 isolates were defined as drug resistant, including 15 multidrug resistant (MDR) and 2 extensively drug resistant (XDR) isolates according to the drug susceptibility test outcomes; after spoligotyping, 87.6% (99/113) isolates were categorized as Beijing family. In contrast to the isolates from pulmonary tuberculosis patients, here the MIRU-VNTR assay did not find anything significant. A prolonged time span for BJTB diagnosis highlights the requirement of paying further attention to BJTB infection in China. This study provides essential insights into the demographic and microbial characteristics of BJTB cases in China. PMID:26053666

  15. Clinical features and a mutation with late onset of limb girdle muscular dystrophy 2B

    PubMed Central

    Takahashi, Toshiaki; Aoki, Masashi; Suzuki, Naoki; Tateyama, Maki; Yaginuma, Chikako; Sato, Hitomi; Hayasaka, Miho; Sugawara, Hitomi; Ito, Mariko; Abe-Kondo, Emi; Shimakura, Naoko; Ibi, Tohru; Kuru, Satoshi; Wakayama, Tadashi; Sobue, Gen; Fujii, Naoki; Saito, Toshio; Matsumura, Tsuyoshi; Funakawa, Itaru; Mukai, Eiichiro; Kawanami, Toru; Morita, Mitsuya; Yamazaki, Mineo; Hasegawa, Takashi; Shimizu, Jun; Tsuji, Shoji; Kuzuhara, Shigeki; Tanaka, Hiroyasu; Yoshioka, Masaru; Konno, Hidehiko; Onodera, Hiroshi; Itoyama, Yasuto

    2013-01-01

    Objective and methods Dysferlin encoded by DYSF deficiency leads to two main phenotypes, limb girdle muscular dystrophy (LGMD) 2B and Miyoshi myopathy. To reveal in detail the mutational and clinical features of LGMD2B in Japan, we observed 40 Japanese patients in 36 families with LGMD2B in whom dysferlin mutations were confirmed. Results and conclusions Three mutations (c.1566C>G, c.2997G>T and c.4497delT) were relatively more prevalent. The c.2997G>T mutation was associated with late onset, proximal dominant forms of dysferlinopathy, a high probability that muscle weakness started in an upper limb and lower serum creatine kinase (CK) levels. The clinical features of LGMD2B are as follows: (1) onset in the late teens or early adulthood, except patients homozygous for the c.2997G>T mutation; (2) lower limb weakness at onset; (3) distal change of lower limbs on muscle CT at an early stage; (4) impairment of lumbar erector spinal muscles on muscle CT at an early stage; (5) predominant involvement of proximal upper limbs; (6) preservation of function of the hands at late stage; (7) preservation of strength in neck muscles at late stage; (8) lack of facial weakness or dysphagia; (9) avoidance of scoliosis; (10) hyper-Ckaemia; (11) preservation of cardiac function; and (12) a tendency for respiratory function to decline with disease duration. It is important that the late onset phenotype is found with prevalent mutations. PMID:23243261

  16. Clinical features, survival and prognostic factors of primary testicular diffuse large B-cell lymphoma

    PubMed Central

    Jia, Bo; Shi, Yuankai; Dong, Mei; Feng, Fengyi; Yang, Sheng; Lin, Hua; Zhou, Liqiang; Zhou, Shengyu; Chen, Shanshan; Yang, Jianliang; Liu, Peng; Qin, Yan; Zhang, Changgong; Gui, Lin; Wang, Lin; Wang, Xue

    2014-01-01

    Objective To assess the clinical features, survival and prognostic factors of primary testicular diffuse large B-cell lymphoma (DLBCL). Methods A retrospective study of 37 patients with primary testicular DLBCL was carried out from November 2003 to May 2012. Their clinical features, survival and prognostic factors were analyzed. Results During a median follow-up period of 39.8 months (5.4-93.0 months), the median progression-free survival (PFS) was 26.2 months (95% CI: 0-65 months) and the 3-year overall survival (OS) rate was 78.4%. Within the whole cohort, the factors significantly associated with a superior PFS were limited stage (stage I/II), lactate dehydrogenase (LDH) ?245 U/L, international prognostic index (IPI) ?1, primary tumor diameter <7.5 cm, and patients who had complete response (CR) and received doxorubicin-contained chemotherapy (P<0.05). There was a trend toward superior outcome for patients who received combined therapy (surgery/chemotherapy/radiotherapy) (P=0.055). Patients who had CR, primary tumor diameter <7.5 cm and IPI score ?1 were significantly associated with longer PFS at multivariate analysis. Conclusions Primary testicular DLBCL had poorer survival. CR, primary tumor diameter and IPI were independent prognostic factors. The combined therapy of orchectomy, doxorubicin-contained chemotherapy and contralateral testicular radiotherapy (RT) seemed to improve survival. PMID:25232220

  17. Genotypic Profile of Streptococcus suis Serotype 2 and Clinical Features of Infection in Humans, Thailand

    PubMed Central

    Kerdsin, Anusak; Dejsirilert, Surang; Puangpatra, Parichart; Sripakdee, Saowalak; Chumla, Koranan; Boonkerd, Nitsara; Polwichai, Pitimol; Tanimura, Susumu; Takeuchi, Dan; Nakayama, Tatsuya; Nakamura, Shota; Akeda, Yukihiro; Gottschalk, Marcelo; Sawanpanyalert, Pathom

    2011-01-01

    To examine associations between clinical features of Streptococcus suis serotype 2 infections in humans in Thailand and genotypic profiles of isolates, we conducted a retrospective study during 2006–2008. Of 165 patients for whom bacterial cultures of blood, cerebrospinal fluid, or both were positive for S. suis serotype 2, the major multilocus sequence types (STs) found were ST1 (62.4%) and ST104 (25.5%); the latter is unique to Thailand. Clinical features were examined for 158 patients. Infections were sporadic; case-fatality rate for adults was 9.5%, primarily in northern Thailand. Disease incidence peaked during the rainy season. Disease was classified as meningitis (58.9%) or nonmeningitis (41.1%, and included sepsis [35.4%] and others [5.7%]). Although ST1 strains were significantly associated with the meningitis category (p<0.0001), ST104 strains were significantly associated with the nonmeningitis category (p<0.0001). The ST1 and ST104 strains are capable of causing sepsis, but only the ST1 strains commonly cause meningitis. PMID:21529392

  18. MEK1 expression and its relationship with clinical pathological features in hepatocellular carcinoma

    PubMed Central

    Gong, Renhua; Sun, Dengqun; Zhong, Xingguo; Sun, Yanjun; Li, Li

    2015-01-01

    Background: MEK1 is overexpressed in various human carcinomas, but the role of MEK1 is not well unknown in hepatocellular carcinoma (HCC). In the present study, we aimed to explore MEK1 expression of in HCC tissues, and to evaluate its relationship with clinical pathological features. Methods: Expressions of MEK1 were detected by western blot assay, real-time quantitative PCR and immunohistochemical (IHC) staining in 30 HCC tissues and their adjacent normal tissues. Pearson Chi-square test was used to analyze the relationship between MEK1 expression and clinical pathological features. The survival curve was drawn by Kaplan-Meier method, and survival was analyzed by Lon-rank test. Results: The expression of MEK1 mRNA in HCC tissues was significantly higher than that in adjacent normal tissues and so was the expression of MEK1 protein. In the 30 specimens, 70% was with Tumor/Normal ratio > 2, 10% with Tumor/Normal ratio < 1 and 20% with 1 < Tumor/Normal ratio < 2. The mean survival time in high MEK1 expression group was significantly lower than that in low MEK1 expression group (Log-rank value = 11.946, P < 0.01). Conclusion: MEK1 expressions in HCC tissues were significantly higher than that in adjacent normal tissues, which indicated that MEK1 was involved in the genesis and development of HCC. Moreover, it was closely related to the postoperative survival time of patients with HCC.

  19. Clinical features of systemic cancer patients with acute cerebral infarction and its underlying pathogenesis

    PubMed Central

    Chen, Yajuan; Zeng, Jinsheng; Xie, Xingrui; Wang, Zijun; Wang, Xiaoting; Liang, Zhijian

    2015-01-01

    Background: The increased incidence of cerebral infarction in patients with systemic cancer has been reported; however, the underline mechanisms remain unclear. Investigation regarding the clinical features of cerebral infarction in cancer patients could be helpful to understand its underlying pathogenesis. Methods: A total of 537 patients were recruited and divided into three groups: 1) stroke and cancer group (SCG), defined as active cancer patients with acute cerebral infarction; 2) stroke group (SG), defined as acute cerebral infarction patients without cancer; and 3) Cancer group (CG), defined as active cancer patients without cerebral infarction. These patients were age and gender-matched among groups. Results: 179 patients, including 128 male subjects (73.68%) were enrolled in each group. Compared to SG patients, more SCG patients lacked conventional vascular risk factors (CRFs), and had elevated plasma D-dimer, cancer antigen (CA) 125 and 199 levels with multiple lesions in multiple cerebral arterial territories. In addition, SCG patients were found to have poorer prognosis. Compared to CG patients, more SCG patients’ cancer had metastasized. Multiple logistic regression analysis showed that the elevated plasma D-dimer, CA125 and CA199 levels may independently increase, but chemoradiotherapy decreased the risk of cerebral infarction in cancer patients. Conclusions: Our study demonstrated that the clinical features of acute cerebral infarction in most active cancer patients can be identified as multiple lesions in multiple cerebral arterial territories with elevated plasma D-dimer and the elevated levels of cancer antigens.

  20. Clinical and laboratory predictors of distinct histopathogical features of lupus nephritis.

    PubMed

    Mavragani, Clio P; Fragoulis, George E; Somarakis, George; Drosos, Alexandros; Tzioufas, Athanasios G; Moutsopoulos, Haralampos M

    2015-05-01

    The authors aimed to explore whether distinct clinical, serological, and urinalysis findings are associated with specific histological classes of lupus nephritis. Clinical and laboratory features were recorded at the time of clinical diagnosis from 297 consecutive patients with biopsy-confirmed lupus nephritis. Univariate and logistic regression analyses were performed and a risk score was developed to estimate the risk for developing different classes of lupus nephritis. Variables independently associated with class II included absence of malar rash, negative anti-dsDNA, and ?5 urine leucocytes/high power field (hpf); with III/IV: age at nephritis diagnosis ?32 years old, presence of musculoskeletal features, new-onset hypertension, positive anti-dsDNA, >5 urine leucocytes/hpf, creatinine >1.2?mg/dL, cellular casts >1/hpf, and absence of nephrotic range proteinuria; with V: age at nephritis diagnosis >32 years, malar rash, absence of musculoskeletal complaints or serum C3 hypocomplementemia, nephrotic range proteinuria, and ?9 urine erythrocytes/hpf. A risk predictive score of specific histological classes was calculated for each patient. Associations between 2, 3 or more risk factors with specific histological classes were also revealed [Odds ratios (95% confidence interval) (?2 risk factors) was 6.7 (2.8-17.4) for class II nephritis, 15.6 (5.1-47.8), and 8.2 (3.6-19.0) for classes III/IV and for class V, respectively (?3 risk factors)]. The identification of independent factors associated with specific classes of lupus nephritis can provide guidance in selecting specific therapeutic modalities, particularly in cases in which renal biopsy is contraindicated. PMID:26020385

  1. Clinical and laboratory features that distinguish dengue from other febrile illnesses in endemic populations

    PubMed Central

    Potts, James A.; Rothman, Alan L.

    2009-01-01

    Summary OBJECTIVE Clinicians in resource-poor countries need to identify patients with dengue using readily-available data. The objective of this systematic review was to identify clinical and laboratory features that differentiate dengue fever (DF) and/or dengue hemorrhagic fever (DHF) from other febrile illnesses (OFI) in dengue-endemic populations. METHODS Systematic review of the literature from 1990-Oct. 30, 2007 including English publications comparing dengue and OFI. RESULTS Among 49 studies reviewed, 34 did not meet our criteria for inclusion. Of the 15 studies included, 10 were prospective cohort studies and five were case-control studies. Seven studies assessed all ages, four assessed children only, and four assessed adults only. Patients with dengue had significantly lower platelet, white blood cell (WBC) and neutrophil counts, and a higher frequency of petechiae than OFI patients. Higher frequencies of myalgia, rash, hemorrhagic signs, lethargy/prostration, and arthralgia/joint pain and higher hematocrits were reported in adult patients with dengue but not in children. Most multivariable models included platelet count, WBC, rash, and signs of liver damage; however, none had high statistical validity and none considered changes in clinical features over the course of illness. CONCLUSIONS Several individual clinical and laboratory variables distinguish dengue from OFI; however, some variables may be dependent on age. No published multivariable model has been validated. Study design, populations, diagnostic criteria, and data collection methods differed widely across studies, and the majority of studies did not identify specific etiologies of OFIs. More prospective studies are needed to construct a valid and generalizable algorithm to guide the differential diagnosis of dengue in endemic countries. PMID:18803612

  2. Aberrant expression of DNA damage response proteins is associated with breast cancer subtype and clinical features

    PubMed Central

    Guler, Gulnur; Himmetoglu, Cigdem; Jimenez, Rafael E.; Geyer, Susan M.; Wang, Wenle P.; Costinean, Stefan; Pilarski, Robert T.; Morrison, Carl; Suren, Dinc; Liu, Jianhua; Chen, Jingchun; Kamal, Jyoti; Shapiro, Charles L.

    2013-01-01

    Landmark studies of the status of DNA damage checkpoints and associated repair functions in preneoplastic and neoplastic cells has focused attention on importance of these pathways in cancer development, and inhibitors of repair pathways are in clinical trials for treatment of triple negative breast cancer. Cancer heterogeneity suggests that specific cancer subtypes will have distinct mechanisms of DNA damage survival, dependent on biological context. In this study, status of DNA damage response (DDR)-associated proteins was examined in breast cancer subtypes in association with clinical features; 479 breast cancers were examined for expression of DDR proteins ?H2AX, BRCA1, pChk2, and p53, DNA damage-sensitive tumor suppressors Fhit and Wwox, and Wwox-interacting proteins Ap2?, Ap2?, ErbB4, and correlations among proteins, tumor subtypes, and clinical features were assessed. In a multivariable model, triple negative cancers showed significantly reduced Fhit and Wwox, increased p53 and Ap2? protein expression, and were significantly more likely than other subtype tumors to exhibit aberrant expression of two or more DDR-associated proteins. Disease-free survival was associated with subtype, Fhit and membrane ErbB4 expression level and aberrant expression of multiple DDR-associated proteins. These results suggest that definition of specific DNA repair and checkpoint defects in subgroups of triple negative cancer might identify new treatment targets. Expression of Wwox and its interactor, ErbB4, was highly significantly reduced in metastatic tissues vs. matched primary tissues, suggesting that Wwox signal pathway loss contributes to lymph node metastasis, perhaps by allowing survival of tumor cells that have detached from basement membranes, as proposed for the role of Wwox in ovarian cancer spread. PMID:21069451

  3. 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

  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. Clinical features and outcomes of focal segmental glomerulosclerosis pathologic variants in Korean adult patients

    PubMed Central

    2014-01-01

    Background Many studies have shown that clinical characteristics and outcomes differ depending on pathologic variants of focal segmental glomerulosclerosis (FSGS). However, these are not well defined in Asian populations. Methods This retrospective study evaluated clinical features and outcomes of pathologic FSGS variants in 111 adult patients between January 2004 and December 2012. Primary outcome was the composite of doubling of baseline serum creatinine concentrations (D-SCr) or onset of end-stage renal disease (ESRD). Secondary outcome included complete (CR) or partial remission (PR). Results There were 70 (63.1%), 20 (18.0%), 17 (15.3%), 3 (2.7%), and 1 (0.9%) patients with not-otherwise specified (NOS), tip, perihilar, cellular, and collapsing variants, respectively. At presentation, nephrotic-range proteinuria occurred more commonly in tip lesion than in other variants. The overall 5-year renal survival rate was 76.8%. During a median follow-up of 34.5 months, only 1 (5.0%) patient with a tip lesion reached the composite end point compared to 2 (11.8%) and 12 (17.1%) patients in perihilar and NOS variants, but this difference was not statistically significant in an adjusted Cox model. However, tip lesion was associated with a significantly increased probability of achieving CR (P?=?0.044). Conclusion Similar to other populations, Korean adult patients with FSGS have distinct clinical features with the exception of a rare frequency of cellular and collapsing variants. Although pathologic variants were not associated with overall outcome, the tip variant exhibited favorable outcome in terms of achieving remission. Further studies are required to delineate long-term outcome and response to treatment of the pathologic variants. PMID:24666814

  6. Amebiasis in HIV-1-infected Japanese men: clinical features and response to therapy.

    PubMed

    Watanabe, Koji; Gatanaga, Hiroyuki; Escueta-de Cadiz, Aleyla; Tanuma, Junko; Nozaki, Tomoyoshi; Oka, Shinichi

    2011-09-01

    Invasive amebic diseases caused by Entamoeba histolytica are increasing among men who have sex with men and co-infection of ameba and HIV-1 is an emerging problem in developed East Asian countries. To characterize the clinical and epidemiological features of invasive amebiasis in HIV-1 patients, the medical records of 170 co-infected cases were analyzed retrospectively, and E. histolytica genotype was assayed in 14 cases. In this series of HIV-1-infected patients, clinical presentation of invasive amebiasis was similar to that described in the normal host. High fever, leukocytosis and high CRP were associated with extraluminal amebic diseases. Two cases died from amebic colitis (resulting in intestinal perforation in one and gastrointestinal bleeding in one), and three cases died from causes unrelated to amebiasis. Treatment with metronidazole or tinidazole was successful in the other 165 cases. Luminal treatment was provided to 83 patients following metronidazole or tinidazole treatment. However, amebiasis recurred in 6 of these, a frequency similar to that seen in patients who did not receive luminal treatment. Recurrence was more frequent in HCV-antibody positive individuals and those who acquired syphilis during the follow-up period. Various genotypes of E. histolytica were identified in 14 patients but there was no correlation between genotype and clinical features. The outcome of metronidazole and tinidazole treatment of uncomplicated amebiasis was excellent even in HIV-1-infected individuals. Luminal treatment following metronidazole or tinidazole treatment does not reduce recurrence of amebiasis in high risk populations probably due to amebic re-infection. PMID:21931875

  7. Epidemiology and Clinical Features of Pulmonary Nontuberculous Mycobacteriosis in Nagasaki, Japan

    PubMed Central

    Ide, Shotaro; Nakamura, Shigeki; Yamamoto, Yoshihiro; Kohno, Yoshihisa; Fukuda, Yuichi; Ikeda, Hideki; Sasaki, Eisuke; Yanagihara, Katsunori; Higashiyama, Yasuhito; Hashiguchi, Kohji; Futsuki, Yoji; Inoue, Yuichi; Fukushima, Kiyoyasu; Suyama, Naofumi; Kohno, Shigeru

    2015-01-01

    Background and Objectives Recent reports indicate that the incidence of nontuberculous mycobacterial-lung disease (NTM-LD) is increasing. This study aimed to investigate the epidemiology and clinical features of NTM-LD patients in Nagasaki prefecture, Japan to identify the negative prognostic factors for NTM-LD in Japan. Methods The medical records of patients newly diagnosed with NTM-LD in eleven hospitals in Nagasaki prefecture between January 2001 and February 2010 were reviewed. Data regarding the annual population of each region and the incidence of all forms of tuberculosis were collected to assess geographic variations in NTM-LD incidence, isolates, and radiological features. Results A total 975 patients were diagnosed with NTM-LD. The incidence increased over the study period and reached 11.0 and 10.1 per 100,000 population in 2008 and 2009, respectively. M. intracellulare was the most common pathogen in the southern region, and M. avium most common in other regions. The most common radiographic pattern was the nodular-bronchiectatic pattern. Age >60 years, body mass index <18.5 kg/m2, underlying lung disease, and cavitary pattern were the negative prognostic factors at the 1-year follow-up. Conclusions The incidence of NTM-LD has been increasing in Nagasaki prefecture. The isolates and radiographic features of patients vary markedly by region. PMID:26020948

  8. 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

  9. [Detection and clinical features of MLL gene rearrangement in adult patients with acute leukemia].

    PubMed

    Liu, Ping; Zhang, Run; Ge, Zheng; Lin, Zhong-Kun; Liu, Juan; Qian, Si-Xuan; Zhang, Su-Jiang; Lu, Hua; Wu, Han-Xin; Qiu, Hong-Xia; Liu, Peng; Xu, Wei; Chen, Li-Juan; Lu, Chao; Lu, Bin-Bin; Qiao, Chun; Qiu, Hai-Rong; Zhu, Guang-Rong; Zhang, Jian-Fu; Wu, Yu-Jie; Li, Jian-Yong

    2012-10-01

    This study was purposed to investigate the incidence of mixed lineage leukemia (MLL) gene rearrangement and partner gene types as well as the clinical features and prognosis of acute leukemia (AL) with this rearrangement through detection in adult AL using combination of 3 techniques, and to evaluate the clinical value of this combination detection. The MLL gene rearrangement in 183 cases of adult AL was detected by combination of conventional cytogenetics, split signal FISH and multiplex nested PCR. The results showed that the incidence of MLL rearrangements in adult patients with AL was low (8.2%), and MLL-AF4 fusion gene was most common and predominant in acute lymphoblastic leukemia (ALL), while the MLL-AF6 and MLL-AF9 were most frequent in acute myeloid leukemia (AML). Extramedullary involvements were found in 40% of MLL-rearranged AL patients, and 33.3% of patients with MLL-rearranged AL reached to complete remission within 30 days during induction chemotherapy. In addition, in this cohort of MLL-rearranged adult AL patients, the 3-month relapse rate and 6-month overall survival rate were 50.0% and 50.0% respectively. It is concluded that the rate of missed diagnosis of CC technique for patients with MLL-rearranged AL reached to 60% in this study, while the combination of CC, FISH and multiplex nested PCR has been confirmed to have important significance for evaluating prognosis and conducting clinical therapy of patients with MLL-rearranged AL. PMID:23114129

  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. Clinical Features: Primordial Dwarfism is charcterized by growth that is profoundly restricted from early in deveopment which

    E-print Network

    Das, Soma

    features of these groups include severe intrauterine and postnatal growth deficiency, severe postnatal8/13 Clinical Features: Primordial Dwarfism is charcterized by growth that is profoundly restricted microcephaly (mean postnatal growth retardation is -7SD with a range from -5 to -13 SD; mean OFC is -9SD

  12. 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

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

    E-print Network

    Gilad, Yoav

    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

  14. 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

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

    Microsoft Academic Search

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

    2009-01-01

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

  16. Complications of minimally invasive procedures of the abdomen and pelvis: a comprehensive update on the clinical and imaging features.

    PubMed

    Saddala, Prashanth; Ramanathan, Subramaniyan; Tirumani, Sree Harsha; Ojili, Vijayanadh; Nagar, Arpit M; Fasih, Najla; Sheikh, Adnan; Saboo, Sachin S

    2015-06-01

    Minimally invasive gastrointestinal, genitourinary, and gynecological procedures are widely used in the clinical practice for diagnostic and therapeutic purposes. Complications both minor and major are not uncommon with these procedures. Imaging plays an important role in the detection and optimal management of these complications. Familiarity with the clinical and imaging features of these complications by radiologists can help in their timely detection. PMID:25537821

  17. Juvenile-Onset OCD: Clinical Features in Children, Adolescents and Adults

    PubMed Central

    Mancebo, Maria C.; Garcia, Abbe M.; Pinto, Anthony; Freeman, Jennifer B.; Przeworski, Amy; Stout, Robert; Kane, Joshua S.; Eisen, Jane L.; Rasmussen, Steven A.

    2009-01-01

    Objective To examine clinical correlates of juvenile-onset OCD across the lifespan. Method Intake data collected from 257 consecutive participants with a juvenile-onset of OCD (20 children, 44 adolescents, and 193 adults) in a naturalistic study of the clinical course of OCD were examined. Participants and parents of juvenile participants completed a structured diagnostic interview, rater-administered severity measures, and self-report questionnaires. Results Children and adolescents (i.e. juveniles) shared similar features with the exception of age at onset and OCD symptom expression. Clinically meaningful differences between juvenile and adult participants were also found. Compared to adults, juveniles were more likely to be male, recall an earlier age at OCD onset, and have different lifetime comorbidity patterns. Conclusion Juvenile-onset OCD symptom expression is remarkably similar across the lifespan. However, findings also suggest clinically meaningful differences between juveniles and adults. Future work using a prospective design will improve our understanding of course patterns of juvenile-onset OCD. Significant Outcomes •Children were less likely than either adolescent or adults to report aggressive obsessions and mental rituals. •Males were overrepresented in the juvenile sample but gender was equally distributed in the adult sample •Compared to lifetime comorbidity patterns of adults, juveniles showed elevated rates of ADHD and lower rates of mood, substance use and eating disorders Limitations •The cross-sectional design with retrospective recall regarding course prior to study entry limits conclusions about the course of OCD. •The adult sample is limited to adults whose symptoms persisted into adulthood and therefore results cannot be generalized to all individuals with a juvenile-onset. •The small number of very young children (under age 10) may have limited power to detect differences among children and adolescents. PMID:18699949

  18. Clinical Features of Candidiasis in Patients With Inherited Interleukin 12 Receptor ?1 Deficiency

    PubMed Central

    Ouederni, Monia; Sanal, Ozden; Ikincio?ullari, Aydan; Tezcan, Ilhan; Dogu, Figen; Sologuren, Ithaisa; Pedraza-Sánchez, Sigifredo; Keser, Melike; Tanir, Gonul; Nieuwhof, Chris; Colino, Elena; Kumararatne, Dinakantha; Levy, Jacov; Kutukculer, Necil; Aytekin, Caner; Herrera-Ramos, Estefanía; Bhatti, Micah; Karaca, Neslihan; Barbouche, Ridha; Broides, Arnon; Goudouris, Ekaterini; Franco, José Luis; Parvaneh, Nima; Reisli, Ismail; Strickler, Alexis; Shcherbina, Anna; Somer, Ayper; Segal, Anthony; Angel-Moreno, Alfonso; Lezana-Fernandez, José Luis; Bejaoui, Mohamed; Bobadilla-Del Valle, Miriam; Kachboura, Salem; Sentongo, Timothy; Ben-Mustapha, Imen; Bustamante, Jacinta; Picard, Capucine; Puel, Anne; Boisson-Dupuis, Stéphanie; Abel, Laurent; Casanova, Jean-Laurent; Rodríguez-Gallego, Carlos

    2014-01-01

    Background.?Interleukin 12R?1 (IL-12R?1)–deficient patients are prone to clinical disease caused by mycobacteria, Salmonella, and other intramacrophagic pathogens, probably because of impaired interleukin 12–dependent interferon ? production. About 25% of patients also display mucocutaneous candidiasis, probably owing to impaired interleukin 23–dependent interleukin 17 immunity. The clinical features and outcome of candidiasis in these patients have not been described before, to our knowledge. We report here the clinical signs of candidiasis in 35 patients with IL-12R?1 deficiency. Results.?Most (n = 71) of the 76 episodes of candidiasis were mucocutaneous. Isolated oropharyngeal candidiasis (OPC) was the most common presentation (59 episodes, 34 patients) and was recurrent or persistent in 26 patients. Esophageal candidiasis (n = 7) was associated with proven OPC in 2 episodes, and cutaneous candidiasis (n = 2) with OPC in 1 patient, whereas isolated vulvovaginal candidiasis (VVC; n = 3) was not. Five episodes of proven invasive candidiasis were documented in 4 patients; 1 of these episodes was community acquired in the absence of any other comorbid condition. The first episode of candidiasis occurred earlier in life (median age±standard deviation, 1.5 ± 7.87 years) than infections with environmental mycobacteria (4.29 ± 11.9 years), Mycobacterium tuberculosis (4 ± 3.12 years), or Salmonella species (4.58 ± 4.17 years) or other rare infections (3 ± 11.67 years). Candidiasis was the first documented infection in 19 of the 35 patients, despite the vaccination of 10 of these 19 patients with live bacille Calmette-Guérin. Conclusions.?Patients who are deficient in IL-12R?1 may have candidiasis, usually mucocutaneous, which is frequently recurrent or persistent. Candidiasis may be the first clinical manifestation in these patients. PMID:24186907

  19. 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

  20. Clinical features and course of refractory anemia with ring sideroblasts associated with marked thrombocytosis

    PubMed Central

    Broseus, Julien; Florensa, Lourdes; Zipperer, Esther; Schnittger, Susanne; Malcovati, Luca; Richebourg, Steven; Lippert, Eric; Cermak, Jaroslav; Evans, Jyoti; Mounier, Morgane; Raya, José Maria; Bailly, François; Gattermann, Norbert; Haferlach, Torsten; Garand, Richard; Allou, Kaoutar; Besses, Carlos; Germing, Ulrich; Haferlach, Claudia; Travaglino, Erica; Luno, Elisa; Pinan, Maria Angeles; Arenillas, Leonor; Rozman, Maria; Perez Sirvent, Maria Luz; Favre, Bernardine; Guy, Julien; Alonso, Esther; Ahwij, Nuhri; Jerez, Andrés; Hermouet, Sylvie; Maynadié, Marc; Cazzola, Mario; Girodon, François

    2012-01-01

    Background Refractory anemia with ring sideroblasts associated with marked thrombocytosis was proposed as a provisional entity in the 2001 World Health Organization classification of myeloid neoplasms and also in the 2008 version, but its existence as a single entity is contested. We wish to define the clinical features of this rare myelodysplastic/myeloproliferative neoplasm and to compare its clinical outcome with that of refractory anemia with ring sideroblasts and essential thrombocythemia. Design and Methods We conducted a collaborative retrospective study across Europe. Our database included 200 patients diagnosed with refractory anemia with ring sideroblasts and marked thrombocytosis. For each of these patients, each patient diagnosed with refractory anemia with ring sideroblasts was matched for age and sex. At the same time, a cohort of 454 patients with essential thrombocythemia was used to compare outcomes of the two diseases. Results In patients with refractory anemia with ring sideroblasts and marked thrombocytosis, depending on the Janus Kinase 2 V617F mutational status (positive or negative) or platelet threshold (over or below 600×109/L), no difference in survival was noted. However, these patients had shorter overall survival and leukemia-free survival with a lower risk of thrombotic complications than did patients with essential thrombocythemia (P<0.001) but better survival (P<0.001) and a higher risk of thrombosis (P=0.039) than patients with refractory anemia with ring sideroblasts. Conclusions The clinical course of refractory anemia with ring sideroblasts and marked thrombocytosis is better than that of refractory anemia with ring sideroblasts and worse than that of essential thrombocythemia. The higher risk of thrombotic events in this disorder suggests that anti-platelet therapy might be considered in this subset of patients. From a clinical point of view, it appears to be important to consider refractory anemia with ring sideroblasts and marked thrombocytosis as a distinct entity. PMID:22532522

  1. Carpet Lesions Detected at CT Colonography: Clinical, Imaging, and Pathologic Features

    PubMed Central

    Lam, Vu P.; Weiss, Jennifer M.; Kennedy, Gregory D.; Kim, David H.

    2014-01-01

    Purpose To describe carpet lesions (laterally spreading tumors ? 3 cm) detected at computed tomographic (CT) colonography, including their clinical, imaging, and pathologic features. Materials and Methods The imaging reports for 9152 consecutive adults undergoing initial CT colonography at a tertiary center were reviewed in this HIPAA-compliant, institutional review board–approved retrospective study to identify all potential carpet lesions detected at CT colonography. Carpet lesions were defined as morphologically flat, laterally spreading tumors 3 cm or larger. For those patients with neoplastic carpet lesions, CT colonography studies were analyzed to determine maximal lesion width and height, oral contrast material coating, segmental location, and computer-aided detection (CAD) findings. Demographic data and details of clinical treatment in these patients were reviewed. Results Eighteen carpet lesions in 18 patients (0.2%; mean age, 67.1 years; eight men, 10 women) were identified and were subsequently confirmed at colonoscopy and pathologic examination among 20 potential flat masses (?3 cm) prospectively identified at CT colonography (there were two nonneoplastic rectal false-positive findings). No additional neoplastic carpet lesions were found in the cohort undergoing colonoscopy after CT colonography and/or surgery (there were no false-negatives). Mean lesion width was 46.5 mm (range, 30–80 mm); mean lesion height was 7.9 mm (range, 4–14 mm). Surface retention of oral contrast material was noted in all 18 cases. All but two lesions were located in the distal rectosigmoid or proximal right colon. At CAD, 17 (94.4%) lesions were detected (mean, 6.2 CAD marks per lesion). Sixteen lesions (88.9%) demonstrated advanced histologic features, including a villous component (n = 11), high-grade dysplasia (n = 4), and invasive cancer (n = 5). Sixteen patients (88.9%) required surgical treatment for complete excision. Conclusion CT colonography can effectively depict carpet lesions. Common features in this series included older patient age, rectal or cecal location, surface coating with oral contrast material, multiple CAD hits, advanced yet typically benign histologic features, and surgical treatment. © RSNA, 2013 Online supplemental material is available for this article. PMID:24029647

  2. Geographical, clinical, clinicopathological and radiographic features of canine angiostrongylosis in Irish dogs: a retrospective study

    PubMed Central

    2012-01-01

    Background Angiostrongylus vasorum infection is associated with high morbidity and mortality in dogs. Although recognised in Ireland, there are no large series of cases reported. The aim of this retrospective study was to identify pertinent clinical and geographical features in Irish dogs. Results The case records of dogs presenting to the University College Dublin Veterinary Hospital (1999-2010) were reviewed. A contemporaneous review of external faecal parasitology and post mortem submissions was also performed. A positive diagnosis of angiostrogylosis was identified in 49 dogs including 24 clinical, 10 post mortem and 15 external faecal sample cases. The majority (n = 44 (90%)) resided on the East Coast. In the clinical cases, the median age was 20 months, 29% of cases were older than 2 years. Clinical features included cardiorespiratory (63%), coagulopathic (71%) and other (63%) signs. Cough (n = 10), dyspnoea (n = 5) and tachypnoea (n = 3) were the most common cardiorespiratory abnormalities. Of animals with evidence of coagulopathy, excessive haemorrhage from a wound (n = 5), airway haemorrhage (n = 9), epistaxis (n = 3), haematoma (n = 4), suspected haemarthrosis (n = 3), neurological signs (n = 2) and haematuria (n = 1) were found. Ten dogs were anaemic, of which two were severe (haematocrit ? 0.20 L/L). Ten animals had thrombocytopenia, with four severely affected (?50 × 109/L). PT and APTT values were prolonged in 4 (24%) of 17 and a BMBT was prolonged in 5 (63%) of 8 cases. Vague signs of exercise intolerance (n = 6), lethargy (n = 6) and weakness (n = 2) were identified, with two (8%) animals having only these signs. In one animal the diagnosis appeared to be incidental. Thoracic radiographs (n = 19) identified abnormalities in 100% of cases. Four (17%) animals died before or within 24 hours of treatment and post mortem examinations confirmed angiostrongylosis. Fenbendazole was administered in 19 cases, 18 (95%) recovered. Two animals were euthanised, one which failed to respond to therapy and another in which an ante mortem diagnosis had not been made. Conclusions Angiostrongylosis is not uncommon in Ireland, is not confined to young dogs or the East Coast and can present with a wide variety of signs, particularly coagulopathic, respiratory or neurological signs. PMID:22433388

  3. Does the choice of display system influence perception and visibility of clinically relevant features in digital pathology images?

    NASA Astrophysics Data System (ADS)

    Kimpe, Tom; Rostang, Johan; Avanaki, Ali; Espig, Kathryn; Xthona, Albert; Cocuranu, Ioan; Parwani, Anil V.; Pantanowitz, Liron

    2014-03-01

    Digital pathology systems typically consist of a slide scanner, processing software, visualization software, and finally a workstation with display for visualization of the digital slide images. This paper studies whether digital pathology images can look different when presenting them on different display systems, and whether these visual differences can result in different perceived contrast of clinically relevant features. By analyzing a set of four digital pathology images of different subspecialties on three different display systems, it was concluded that pathology images look different when visualized on different display systems. The importance of these visual differences is elucidated when they are located in areas of the digital slide that contain clinically relevant features. Based on a calculation of dE2000 differences between background and clinically relevant features, it was clear that perceived contrast of clinically relevant features is influenced by the choice of display system. Furthermore, it seems that the specific calibration target chosen for the display system has an important effect on the perceived contrast of clinically relevant features. Preliminary results suggest that calibrating to DICOM GSDF calibration performed slightly worse than sRGB, while a new experimental calibration target CSDF performed better than both DICOM GSDF and sRGB. This result is promising as it suggests that further research work could lead to better definition of an optimized calibration target for digital pathology images resulting in a positive effect on clinical performance.

  4. Intracranial arachnoid cysts in children: a review of pathogenesis, clinical features, and management.

    PubMed

    Gosalakkal, Jayaprakash A

    2002-02-01

    Arachnoid cysts are developmental anomalies that are most often diagnosed in childhood. They are often discovered as incidental findings found on imaging. Occasionally they may produce symptoms because of expansion or bleeding. There may be underlying maldevelopment of the cortex especially the temporal lobe. There is controversy regarding the role and the type of surgery indicated in its treatment. Recent descriptions of aphasia and attention-deficit disorders associated with these cysts indicate that we do not fully understand this entity. There is also no acceptable explanation for the male preponderance and increased incidence on the left side. The distribution, clinical features, treatment modalities, and some unusual syndromes associated with arachnoid cysts in children are discussed in this review. PMID:11897472

  5. Molecular and clinical features of inherited neuropathies due to PMP22 duplication.

    PubMed

    Watila, M M; Balarabe, S A

    2015-08-15

    PMP22 is a transmembrane glycoprotein component of myelin, important for myelin functioning. Mutation of PMP22 gene which encodes for the production of PMP22 glycoprotein is associated with a variety of inherited neuropathies. This literature review sought to review the molecular mechanism and clinical features of inherited neuropathies caused by PMP22 duplication. PMP22 duplication causes CMT1A which accounts for more than half of all CMT cases and about 70% of CMT1 cases. It manifests with muscle weakness, depressed reflexes, impaired distal sensation, hand and foot deformities, slowing of NCV and onion bulbs. With no specific treatment available, it is managed conservatively. Future treatment may be based on the molecular genetics of the disease. PMID:26076881

  6. Bilateral occipital calcification, epilepsy and coeliac disease: clinical and neuroimaging features of a new syndrome.

    PubMed Central

    Magaudda, A; Dalla Bernardina, B; De Marco, P; Sfaello, Z; Longo, M; Colamaria, V; Daniele, O; Tortorella, G; Tata, M A; Di Perri, R

    1993-01-01

    Twenty patients affected by bilateral occipital cortical-subcortical calcification (BOC) are described, 19 (95%) had epilepsy. In 8 of 16 cases studied, intestinal biopsy revealed coeliac disease. Fourteen patients had occipital partial epilepsy with a relatively benign outcome, while 4 patients were affected by a severe form of epilepsy, with very frequent, drug-resistant, generalised and partial seizures with mental deterioration. One patient had a single episode of convulsive status epilepticus at four months of age. The neurological examination was normal in all patients. CT showed flocculo-nodular, cortico-subcortical BOC, without enhancement and without lobar or hemispheric atrophy. MRI was normal. The clinical and neuroimaging features of these patients are different therefore from those with the Sturge-Weber Syndrome. The study confirms a high prevalence of coliac disease in patients with BOC, but the relationship between these two pathologies still needs to be clarified. Images PMID:8350105

  7. Clinical features, investigations and management of adolescents with polycystic ovary syndrome

    PubMed Central

    Orsino, Angela; Van Eyk, Nancy; Hamilton, Jill

    2005-01-01

    BACKGROUND Polycystic ovary syndrome (PCOS) is defined as chronic anovulation with evidence of hyperandrogenism, after the exclusion of secondary causes. It is commonly linked to obesity and the presence of the metabolic syndrome. OBJECTIVES To review the clinical features and medical assessment of adolescents referred for PCOS to gynecology or endocrinology services at The Hospital for Sick Children (Toronto, Ontario). METHODS A chart review was conducted of all adolescents with PCOS referred during a one-year period. Measures included clinical findings, investigations and management. RESULTS Forty-one adolescent girls, with a mean age ± SD of 14.7±1.5 years, were reviewed. Common presenting complaints were menstrual irregularities in 35 of 41 girls (85%) and hirsutism in 28 of 41 girls (68%), with 32 of 41 adolescents (78%) having more than one complaint. The majority (31 of 38 [82%]) were overweight or obese. Features associated with the metabolic syndrome (hypertension, dyslipidemia, insulin resistance and obesity) were identified in some adolescents, but were not consistently assessed. Blood pressure was assessed in 38 adolescents, fasting plasma glucose in 27, triglycerides in 22 and cholesterol in 21. Only four of 28 adolescents (15%) who underwent pelvic ultrasound demonstrated ovarian cysts. Investigations and management differed somewhat between endocrinologists and gynecologists. Most adolescents (34 of 41 [83%]) received pharmacological treatment: oral contraceptive pill (21 of 34 [62%]); intermittent medroxyprogesterone acetate to induce withdrawal bleeding (nine of 34 [26%]); metformin (two of 34 [6%]); or oral contraceptive pill and antiandrogen (two of 34 [6%]). CONCLUSIONS Adolescents with PCOS are at risk of developing metabolic abnormalities. Polycystic ovaries were not a consistent finding. The most commonly prescribed treatment was the oral contraceptive pill. Greater attention should be placed on screening adolescents with PCOS for diabetes, hypertension and dyslipidemia, allowing for earlier identification and management of potentially modifiable cardiovascular risk factors. PMID:19668673

  8. The clinical features and outcomes of systemic AL amyloidosis: a cohort of 231 Chinese patients

    PubMed Central

    Huang, Xianghua; Wang, Qingwen; Jiang, Song; Chen, Wencui; Zeng, Caihong; Liu, Zhihong

    2015-01-01

    Background Few data are available on the clinical features and outcomes of Chinese patients with systemic immunoglobulin light-chain (AL) amyloidosis. The aim of this study is to reveal the clinical picture and risk factors of disease progression in a large cohort of Chinese patients with AL amyloidosis. Methods Patients in the Jinling Hospital amyloidosis registry from 2003 to 2011 were studied. The clinical and laboratory information were collected from first presentation to death or until the last available clinical follow-up. The patients' survival and renal outcomes were analyzed, and the relationships between the clinical parameters and survival were also assessed. Results A total of 231 patients were enrolled in this study, all the patients studied had renal involvement. One hundred and fifty-three (66.2%) were male, and the median age at diagnosis was 56 years. A total of 198 (85.7%) cases had light-chain ?-type. One hundred and forty-seven (63.6%) cases presented as nephrotic syndrome (NS), and 25% of patients had renal insufficiency at diagnosis. Liver involvement and NS appeared to be more common in patients of ?-type amyloidosis, and renal impairment is more severe in ?-type amyloidosis. The median survival time of all patients was 36.3 months, and the 1-, 2-, 3- and 5-year cumulative survival rates were 67, 53, 48 and 35%, respectively. Multivariate COX analysis showed that age, hepatic involvement and heart involvement can significantly influence survival in these patients. The median time that patients remained dialysis free was 50 months. The percentage of patients that remained dialysis free at 1, 2, 3 and 5 years were 78, 69, 62 and 37%, respectively. Multivariate COX analysis showed that serum creatinine and hypotension were the important risk factors of renal failure. Conclusion ?-Type is the most dominant type of AL amyloidosis in Chinese patients. The survival of patients with AL amyloidosis is poor. The risk factors included heart and hepatic involvement, hypotension and impairment of renal function. The high serum creatinine level and hypotension at diagnosis are associated with poor renal outcome. PMID:25713722

  9. Genetic and Clinical Features of Multiple Endocrine Neoplasia Types 1 and 2

    PubMed Central

    Romei, C.; Pardi, E.; Cetani, F.; Elisei, R.

    2012-01-01

    Multiple endocrine neoplasia (MEN) are clinical inherited syndromes affecting different endocrine glands. Three different patterns of MEN syndromes can occur (MEN 1, MEN 2A, and MEN 2B). MEN syndromes are very rare, affect all ages and both sexes are equally affected. MEN 1 is characterized by the neoplastic transformation of the parathyroid glands, pancreatic islets, anterior pituitary, and gastrointestinal tract. Heterozygous MEN 1 germline mutations have been detected in about 70–80% of patients with MEN 1. The mutations are scattered throughout the entire genomic sequence of the gene. MEN 1 patients are characterized by variable clinical features, thus suggesting the lack of a genotype-phenotype correlation. Therapeutical approaches are different according to the different endocrinopathies. The prognosis is generally good if adequate treatment is provided. In MEN 2 syndromes, the medullary thyroid cancer (MTC) is almost invariably present and can be associated with pheochromocytoma (PHEO) and/or multiple adenomatosis of parathyroid glands with hyperparathyroidism (PHPT). The different combination of the endocrine neoplasia gives origin to 3 syndromes: MEN 2A, MEN 2B, and FMTC. The clinical course of MTC varies considerably in the three syndromes. It is very aggressive in MEN 2B, almost indolent in the majority of patients with FMTC and with variable degrees of aggressiveness in patients with MEN 2A. Activating germline point mutations of the RET protooncogene are present in 98% of MEN 2 families. A strong genotype-phenotype correlation has been observed and a specific RET mutation may be responsible for a more or less aggressive clinical course. The treatment of choice for primary MTC is total thyroidectomy with central neck lymph nodes dissection. Nevertheless, 30% of MTC patients, especially in MEN 2B and 2A, are not cured by surgery. Recently, developed molecular therapeutics that target the RET pathway have shown very promising activity in clinical trials of patients with advanced MTC. MEN 2 prognosis is strictly dependent on the MTC aggressiveness and thus on the success of the initial treatment. PMID:23209466

  10. 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

  11. Clinical features and biomarkers of concussion and mild traumatic brain injury in pediatric patients.

    PubMed

    McCarthy, Matthew T; Kosofsky, Barry E

    2015-05-01

    There has been increasing awareness of the incidence and potential long-term consequences of mild traumatic brain injury (mTBI) in children and young adults. While parents, school systems, and athletic programs are clamoring for evidence-based guidelines, the field remains primitive in understanding the factors resulting in a spectrum of individual outcomes, most of which are complete, but some of which are not. In this article, we discuss the definition, epidemiology, clinical presentation, course, and outcomes of mTBI, with a focus on the pediatric population as the context for reviewing the mechanisms and pathophysiology mediating, and biomarkers reflective of, more significant concussion-induced brain injury. Our goal is to present a general overview of the features of mTBI in the pediatric population in order to provide a conceptual model for pediatricians and pediatric subspecialists. This model emphasizes the importance of establishing actionable, noninvasive biomarkers that are reflective of brain injury and that may identify those pediatric patients who can benefit from earlier and more aggressive interventions. We will focus on the specific features of mTBI in pediatric patients; although given the relative lack of research in the pediatric population, we will also extrapolate from research on adults. PMID:25809391

  12. Clinical and histopathological features of progressive-type familial amyloidotic polyneuropathy with TTR Lys54.

    PubMed

    Nagasaka, Takamura; Togashi, Shinji; Watanabe, Harue; Iida, Haruyasu; Nagasaka, Kaori; Nakamura, Yuki; Miwa, Michiaki; Kobayashi, Fumikazu; Shindo, Kazumasa; Shiozawa, Zenji

    2009-01-15

    The purpose of this study was to evaluate the clinical and pathological features in patients with progressive-type familial amyloidotic polyneuropathy (FAP) using autopsy and biopsy specimens. A proband is a 33-year-old man with FAP type I who developed motor, sensory and autonomic impairments with neuropathy, heart failure, and anorexia. Genetic findings of transthyretin (TTR) revealed G to A transition in codon 54 causing a rare mutation of TTR Lys54. He died of pneumonia and severe cardiac failure 4 years after onset. Autopsy showed heavy amyloid deposition in the heart, peripheral nerves, thyroid, skin, fat tissue, prostate and testis, moderate in the sympathetic nerve trunk, vagal nerve, celiac plexus, pelvic plexus, bladder, gastrointestinal tract, tongue, pancreas, lung, pituitary, blood vessel, gall bladder, adrenals and muscles, and free in the central nervous system, liver, kidney and spleen. Sural nerve biopsy in a sibling confirmed TTR amyloidosis immunohistochemically. Electronmicroscopic findings of amyloid fibrils were similar to that of FAP Met30. Immunoelectronmicroscopic findings indicated the relationship between amyloid fibrils or non-fibrillar structure and collagen fibers. The distribution of amyloid deposition, heavy in the heart and lacking in the kidney, is a characteristic feature and reflected severity of FAP with TTR Lys54. PMID:18930252

  13. 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

  14. An evaluation of the clinical, cytological, infectious and histopathological features of feline acne.

    PubMed

    Jazic, E; Coyner, K S; Loeffler, D G; Lewis, T P

    2006-04-01

    Clinical, cytological, microbial and histopathological features of feline acne were investigated in 22 cats referred or volunteered to a veterinary dermatology practice in the south-west region of the USA. For comparison, same parameters were evaluated in five unaffected pet cats. Additionally, all cats were evaluated by immunohistochemistry (IHC) for the presence of feline calicivirus (FCV) and feline herpes virus (FHV-1) in acne lesions. The age of onset of acne in affected cats ranged from 6 months to 14 years with a median of 4 years. The most common dermatologic lesions were comedones (73%), alopecia (68%), crusts (55%), papules (45%) and erythema (41%). Pruritus was reported in 35% of the affected cats. Cytological evidence of Malassezia pachydermatitis was present on 4/22 (18%) of affected cats. Microsporum canis was isolated from a single affected cat. Bacteria were isolated from 10 of the 22 (45%) affected cats; coagulase-positive staphylococci and alpha-haemolytic streptococci were most common. Histopathological features included lymphoplasmacytic periductal inflammation (86%), sebaceous gland duct dilatation (73%), follicular keratosis with plugging and dilatation (59%), epitrichial gland occlusion and dilatation (32%), folliculitis (27%), pyogranulomatous sebaceous adenitis (23%) and furunculosis (23%). In one affected cat from a household with five cats, simultaneously having feline acne, FCV antigen was detected in the biopsy of the chin by IHC. Chin tissue samples from all other affected cats, as well as the five healthy cats, were negative by IHC for FCV and FHV-1 antigens. PMID:16515656

  15. 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

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

    PubMed Central

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

    2015-01-01

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

  17. Clinical and radiographic features of solitary and cemento-osseous dysplasia-associated simple bone cysts

    PubMed Central

    Chadwick, JW; Alsufyani, NA; Lam, EWN

    2011-01-01

    Objective The purpose of this study was to review the clinical and radiographic features of solitary and COD-associated SBCs. Methods Archived imaging reports from the Special Procedures Clinic in Oral and Maxillofacial Radiology at the Faculty of Dentistry at the University of Toronto between 1 January 1989 and 31 December 2009 revealed 23 COD-associated SBCs and 68 solitary SBCs. Results Almost all solitary and COD-associated SBCs were found in the mandible. Furthermore, 87.0% of COD-associated SBCs were found in females in their fifth decade of life (P < 0.001) while solitary SBCs were found in equal numbers in both sexes in their second decade of life (P < 0.005). COD-associated SBCs were also more likely to cause thinning of the endosteal cortex, bone expansion and scalloping of the superior border between teeth (all P < 0.001) than solitary SBCs that are classically described as having these characteristics. Finally, COD-associated SBC demonstrated a loss of lamina dura more often (P < 0.05) than solitary SBCs. Conclusions Knowledge of the sporadic association between COD and SBC and their potential radiographic appearances should prevent inappropriate treatment and management of these patients. PMID:21493879

  18. 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

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

    PubMed

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

    2015-02-01

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

  20. 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

  1. Pathophysiology, clinical features and radiological findings of differentiation syndrome/all-trans-retinoic acid syndrome.

    PubMed

    Cardinale, Luciano; Asteggiano, Francesco; Moretti, Federica; Torre, Federico; Ulisciani, Stefano; Fava, Carmen; Rege-Cambrin, Giovanna

    2014-08-28

    In acute promyelocytic leukemia, differentiation therapy based on all-trans-retinoic acid can be complicated by the development of a differentiation syndrome (DS). DS is a life-threatening complication, characterized by respiratory distress, unexplained fever, weight gain, interstitial lung infiltrates, pleural or pericardial effusions, hypotension and acute renal failure. The diagnosis of DS is made on clinical grounds and has proven to be difficult, because none of the symptoms is pathognomonic for the syndrome without any definitive diagnostic criteria. As DS can have subtle signs and symptoms at presentation but progress rapidly, end-stage DS clinical picture resembles the acute respiratory distress syndrome with extremely poor prognosis; so it is of absolute importance to be conscious of these complications and initiate therapy as soon as it was suspected. The radiologic appearance resembles the typical features of cardiogenic pulmonary edema. Diagnosis of DS remains a great skill for radiologists and haematologist but it is of an utmost importance the cooperation in suspect DS, detect the early signs of DS, examine the patients' behaviour and rapidly detect the complications. PMID:25170395

  2. 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

  3. 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

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

    PubMed Central

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

    2014-01-01

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

  5. 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

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

    PubMed

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

    2014-07-01

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

  7. Multiple gene mutations in patients with type 2 autoimmune pancreatitis and its clinical features

    PubMed Central

    Dong, Feng; Chen, Qing-quan; Zhuang, Ze-hao; He, Qing-liang; Wang, Feng-qing; Wang, Yu

    2014-01-01

    Background It is now clear that there are two histological types (type 1 and type 2) of autoimmune pancreatitis (AI P). The histological substance of type 1 AI P is known as lymphoplasmacytic sclerosing pancreatitis (LPSP) or traditional AIP, and type 2 AIP is characterized by distinct histology called idiopathic duct centric pancreatitis (IDCP). Serum IgG4 increase is considered as a marker for type 1 AI P. Far less is known about type 2 and it lacks predicting markers, so it easily leads to missed diagnosis and misdiagnosis. The aim of this study The aim of this study was to describe multi-gene mutations in patients with type 2 AI P and its clinical features. Material and methods Three unrelated patients with type 2 AI P, 10 cases with type 1 AIP, 15 cases with other chronic pancreatitis and 120 healthy individuals were studied. The mutations and polymorphisms of 6 genes involved in chronic pancreatitis or pancreatic cancer — PRSS1, SPINK1, CFTR, MEN1, PKHD1, and mitochondrial DNA – were sequenced. Information of clinical data was collected by personal interview using a structured questionnaire. Results Novel mutations were found in the genes encoding for MEN1 (p.546 Ala > The) and PKHD1 (c. 233586 A > G and c. 316713 C > T) from patients with type 2 AIP. What is more, the serum TCR (T cell receptor) level is relatively higher in patients with type 2 AIP than in patients with type 1 AIP and other chronic pancreatitis or normal controls. Weight loss was the major manifestation and no patients had extrapancreatic involvement in type 2 AIP. Conclusions Type 2 AIP may occur with multi-gene mutations. For screening purposes, it is more reasonable to evaluate TCR levels in serum.

  8. Clinical features of organophosphate poisoning: A review of different classification systems and approaches

    PubMed Central

    Peter, John Victor; Sudarsan, Thomas Isiah; Moran, John L.

    2014-01-01

    Purpose: The typical toxidrome in organophosphate (OP) poisoning comprises of the Salivation, Lacrimation, Urination, Defecation, Gastric cramps, Emesis (SLUDGE) symptoms. However, several other manifestations are described. We review the spectrum of symptoms and signs in OP poisoning as well as the different approaches to clinical features in these patients. Materials and Methods: Articles were obtained by electronic search of PubMed® between 1966 and April 2014 using the search terms organophosphorus compounds or phosphoric acid esters AND poison or poisoning AND manifestations. Results: Of the 5026 articles on OP poisoning, 2584 articles pertained to human poisoning; 452 articles focusing on clinical manifestations in human OP poisoning were retrieved for detailed evaluation. In addition to the traditional approach of symptoms and signs of OP poisoning as peripheral (muscarinic, nicotinic) and central nervous system receptor stimulation, symptoms were alternatively approached using a time-based classification. In this, symptom onset was categorized as acute (within 24-h), delayed (24-h to 2-week) or late (beyond 2-week). Although most symptoms occur with minutes or hours following acute exposure, delayed onset symptoms occurring after a period of minimal or mild symptoms, may impact treatment and timing of the discharge following acute exposure. Symptoms and signs were also viewed as an organ specific as cardiovascular, respiratory or neurological manifestations. An organ specific approach enables focused management of individual organ dysfunction that may vary with different OP compounds. Conclusions: Different approaches to the symptoms and signs in OP poisoning may better our understanding of the underlying mechanism that in turn may assist with the management of acutely poisoned patients. PMID:25425841

  9. Clinical, biochemical, and genetic features of non-classical 21-hydroxylase deficiency in Japanese children.

    PubMed

    Kashimada, Kenichi; Ishii, Tomohiro; Nagasaki, Keisuke; Ono, Makoto; Tajima, Toshihiro; Yokota, Ichiro; Hasegawa, Yukihiro

    2015-01-01

    Non-classical 21-hydroxylase deficiency (NC21-OHD) is a mild form of 21-hydroxylase deficiency lacking apparent symptoms of androgen excess at birth. Most NC21-OHD cases are diagnosed after the onset of puberty, while a substantial number of patients are not diagnosed during childhood. Previous studies have reported ethnic differences in the prevalence of NC21-OHD. To date, the clinical features of NC21-OHD in Japanese children have not been systemically reported. Thus, we performed 3 independent analyses: retrospective analyses of newborn screening in 2 major Japanese cities (Sapporo and Niigata) and a national surveillance collecting clinical information from pediatric endocrinologists throughout the country. During the last 10 years, one case of NC21-OHD was diagnosed by newborn screening in each city, resulting in incidences of 2.0 (95% confidence interval = 0.0-5.9) and 2.1 (0.0-6.2) per 1,000,000 in Sapporo and Niigata, respectively. We collected information from 85% of the 135 Councilors of Japanese Society of Pediatric Endocrinology. Fifteen NC21-OHD patients were diagnosed during childhood, resulting in the estimated prevalence of 0.58 (0.28-1.1) per 1,000,000. Eleven patients were discovered by newborn screening, 7 patients developed hyperandrogenism symptoms (2-8 years of age, median 7), and 9 patients were treated with hydrocortisone at the time of the survey. Ten out of 13 patients showed compound heterozygosity for the P30L mutation of CYP21A2. Our study suggests that the prevalence/incidence of NC21-OHD is lower than that in Western countries, and that the age for initial onset of androgen excess symptoms varies during the prepubertal period. PMID:25736066

  10. 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

  11. Clinical and genetic features of human prion diseases in Catalonia: 1993-2002.

    PubMed

    Sanchez-Valle, R; Nos, C; Yagüe, J; Graus, F; Domínguez, A; Saiz, A

    2004-10-01

    We describe the clinical and genetic characteristics of the 85 definite or probable human prion diseases cases died between January 1993 and December 2002 in Catalonia (an autonomous community of Spain, 6 million population). Seventy-three (86%) cases were sporadic Creutzfeld-Jakob diseases (sCJD) (49 definite, 24 probable), with a median age at onset of 66 years. The clinical presentation was dementia in 29 cases, ataxia in 14 and visual symptoms in five. The median survival was 3 months. The 14-3-3 assay was positive in 93% cases, 62% presented periodic sharp wave complexes (PSWC) in EEG but only 18% the typical signs on MRI. Forty-eight sCJD were studied for codon 129 PRNP polymorphism: 69% were methionine/methionine (M/M), 14.5% valine/valine (V/V) and 16.5% M/V. Six out of seven V/V cases did not present PSWC and in two survival was longer than 20 months. Eleven cases (13%) were genetic: five familial fatal insomnia and six familial CJD (fCJD). Up to four (67%) fCJD lacked family history of disease, two presented seizures early at onset and one neurosensorial deafness. The only iatrogenic case was related to a dura mater graft. No case of variant CJD was registered. The study confirms in our population the consistent pattern reported worldwide on human prion diseases. Atypical features were seen more frequently in sporadic 129 V/V CJD and fCJD cases. PMID:15469448

  12. 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. PMID:25883757

  13. Epidemiology and Clinical Features of Infections Caused by Extended-Spectrum Beta-Lactamase-Producing Escherichia coli in Nonhospitalized Patients

    Microsoft Academic Search

    Jesus Rodríguez-Bano; Maria Dolores Navarro; Luisa Romero; Luis Martínez-Martínez; Miguel A. Muniain; Evelio J. Perea; Ramon Perez-Cano; Alvaro Pascual

    2004-01-01

    Infections due to extended-spectrum beta-lactamase (ESBL)-producing Escherichia coli (ESBLEC) in non- hospitalized patients seem to be emerging in different countries. Their incidence, epidemiology, and clinical impact in the community have not been studied. We describe the epidemiology and clinical features of infections caused by ESBLEC in nonhospitalized patients in Spain and the results of a case-control study performed to investigate

  14. 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,

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

    PubMed

    Chan, Thomas Y K

    2014-10-01

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

  16. 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

  17. Clinical and mutational features of Vietnamese children with X-linked agammaglobulinemia

    PubMed Central

    2014-01-01

    Background X-linked agammaglobulinemia (XLA) is a primary immune deficiency characterized by recurrent bacterial infections and profoundly depressed serum immunoglobulin levels and circulating mature B cells. It is caused by mutations of the Bruton tyrosine kinase (BTK) gene and is the most common form of inherited antibody deficiency. To our knowledge, this is the first report of XLA from Vietnam. Methods We investigated the BTK gene mutations and clinical features of four unrelated Vietnamese children. Results The mean ages at onset and at diagnosis were 2.5 and 8 years, respectively. All patients had a medical history of otitis media, pneumonia, and septicemia at the time of diagnosis. Other infections reported included sinusitis, bronchiectasis, arthritis, skin infections, meningitis, and recurrent diarrhea. We identified one previously reported mutation (c.441G >A) and three novel mutations: two frameshifts (c.1770delG and c.1742 delG), and one nonsense (c.1249A >T). Conclusions The delayed diagnosis may be attributable to insufficient awareness of this rare disease on the background of frequent infections even in the immunocompetent pediatric population in Vietnam. Our results further support the importance of molecular genetic testing in diagnosis of XLA. PMID:24885015

  18. Dante and cardiology: Physiopathology and clinical features of cardiovascular diseases in the Middle Ages.

    PubMed

    Riva, M A; Cambioli, L; Castagna, F; Cianci, N; Varrenti, M; Giannattasio, C; Cesana, G

    2015-02-15

    Ancient non-medical texts can unexpectedly provide useful information on the development of knowledge about the heart and its diseases throughout history. The 750th anniversary of the birth of the Italian poet Dante Alighieri (1265-1321) provides a timely opportunity to analyze medical references in his works, in particular, focusing on literary descriptions that may be attributed to cardiovascular disorders. Dante's high level of medical knowledge, probably derived from his academic studies, is testified by his affiliation to the Florentine Guild of physicians and pharmacists. In all his works, the poet shows a deep interest for the heart. However, his anatomical and physiological knowledge of the circulatory system appears to be poor, probably due to it being based on theories and concepts brought forth by Aristotle and Galen, which were taught in medieval universities. Despite this, accurate descriptions of some symptoms (emotional syncope, orthopnea, dyspnea on exertion) and signs (ascites, paleness), which may be attributed to cardiovascular disorders, can be easily found in Dante's works, particularly in his masterpiece, the Divine Comedy. The literary and historical analysis of cardiovascular signs and symptoms allows us to assume that clinical features due to alterations of heart function were probably known by medieval physicians, but their etiology and pathophysiological mechanisms were not completely understood in that period. Historians of cardiology and clinicians should consider analysis of non-medical texts (including poetry) as an opportunity to better investigate the evolution of their discipline throughout the ages. PMID:25544198

  19. 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

  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. Correlation between clinical features and circulating levels of soluble intercellular adhesion molecule-1 in Hodgkin's disease.

    PubMed

    Nadali, G; Vinante, F; Rigo, A; Tecchio, C; Morosato, L; Zanolin, E; Perona, G; Chilosi, M; Pizzolo, G

    1995-01-01

    Previous reports have suggested soluble intercellular adhesion molecule-1 as a marker of disease activity in Hodgkin's disease. In the present study we investigated serum levels of intercellular adhesion molecule-1 at diagnosis in 104 patients with Hodgkin's disease and in 77 of these patients following the achievement of complete remission (within 12 months of diagnosis). Mean serum levels at diagnosis were significantly higher in patients than in controls (P < 0.0001) and were related to advanced stages of disease (P = < 0.0001), presence of "B" symptoms (P < 0.0001), abnormality of laboratory indexes (P < 0.0001), erythrocyte sedimentation rate values (r = 0.41, P < 0.0001) and serum levels of soluble interleukin-2 receptor alpha chain (r = 0.51, P < 0.0001). Mean values in complete remission were significantly lower than at diagnosis (P = 0.003). Lower mean values at diagnosis were detected in 30 patients with advanced disease who attained complete remission, compared with 6 patients who failed to attain complete remission with standard treatment. We conclude that in Hodgkin's disease, high serum levels of soluble intercellular adhesion molecule-1 are detectable at presentation and strictly correlate with some clinical features. Response to treatment is paralleled by reduced serum levels. Larger prospective studies are needed to evaluate the possible prognostic significance of serum levels of soluble intercellular adhesion molecule-1 at diagnosis. PMID:7663010

  2. Aetiology and clinical features of dysentery in children aged <5 years in rural Bangladesh.

    PubMed

    Ferdous, F; Ahmed, S; DAS, S K; Farzana, F D; Latham, J R; Chisti, M J; Faruque, A S G

    2014-01-01

    The study identified the common aetiological agents and prominent clinical features of dysentery cases in children aged <5 years and compared this to non-dysentery diarrhoeal cases from the same population. From January 2010 to December 2011, 2324 children aged <5 years received treatment at Kumudini Hospital, of which 682 (29%) presented with dysentery. Of the dysenteric children, aetiology could not be determined for over half (61%). Shigella spp. accounted for 32% of dysentery cases. Significant associations were found between presence of blood in stool and: child age (24-59 months) [odds ratio (OR) 2.21, 95% confidence interval (CI) 1.49-3.27], no treatment of drinking water at home (OR 2.00, 95% CI 1.09-3.67), vomiting (OR 0.19, 95% CI 0.14-0.25), abdominal pain (OR 4.68, 95% CI 3.24-6.77), straining (OR 16.45, 95% CI 11.92-22.69), wasting (OR 1.66, 95% CI 1.15-2.41), and presence of Shigella in stool (OR 6.25, 95% CI 4.20-9.29) after controlling for confounders. This study makes it clear that appropriate public health strategies are needed to reduce the burden of dysentery in Bangladesh. PMID:23561052

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

    E-print Network

    Onnela, Jukka-Pekka

    2015-01-01

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

  4. 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

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

    E-print Network

    Gilad, Yoav

    Micro syndrome is inherited in an autosomal recessive pattern. Parents of an affected child are most8/12 Clinical Features: Warburg Micro syndrome [OMIM #600118] is a rare autosomal recessive with Warburg Micro syndrome. RAB3GAP1 encodes the catalytic subunit of the Rab3 GTPase-activating protein

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

    E-print Network

    Gilad, Yoav

    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; 2126/11 Clinical Features: Charcot Marie Tooth Disease is a group of inherited neuropathies

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

    E-print Network

    Ober, Carole

    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; 2121/13 Clinical Features: Charcot Marie Tooth Disease is a group of inherited neuropathies

  8. 50. Are there any clinical and EEG features associated with occurrence of executive dysfunction in patients with JME?

    Microsoft Academic Search

    E. Cvetkovska; I. Kuzmanovski; T. Vaskov; T. Cepreganova; D. Nikodijevik

    2010-01-01

    A b s t r a c t: The aim of the study was to determine the possible relationship between different clinical and EEG features and executive functions in patients with juvenile myoclonic epilepsy (JME), i.e. to determine if sex, age, duration, absences, cli- nical asymmetric seizures, asymmetry or focality in epileptiform activity in EEG, EEG slow activity and familiar

  9. 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

  10. Clinical Features PHID [pigmented hypertrichotic dermatosis with insulin-dependent diabetes mellitus, OMIM#602782] is a rare disorder

    E-print Network

    Stephens, Matthew

    4/13 Clinical Features PHID [pigmented hypertrichotic dermatosis with insulin-dependent diabetes mellitus, OMIM#602782] is a rare disorder characterized by childhood onset of pigmented hypertrichotic skin JM, Hussain K et al. SLC29A3 gene is mutated in pigmented hypertrichosis with insulin

  11. Clinical Features: Crigler-Najjar syndromes (CN) are inborn disorders of the liver metabolism of bilirubin characterized by non-

    E-print Network

    Gilad, Yoav

    8/11 Clinical Features: Crigler-Najjar syndromes (CN) are inborn disorders of the liver metabolism-Najjar syndrome, type I (CN-I) [OMIM # 218800] is characterized by serum bilirubin more than 25 times-term therapy for CN-1, with liver transplantation being the only definitive treatment. Crigler-Najjar syndrome

  12. Clinical Features: Crigler-Najjar syndromes (CN) are inborn disorders of the liver metabolism of bilirubin characterized by non-

    E-print Network

    Ober, Carole

    1/13 Clinical Features: Crigler-Najjar syndromes (CN) are inborn disorders of the liver metabolism-Najjar syndrome, type I (CN-I) [OMIM # 218800] is characterized by serum bilirubin more than 25 times-term therapy for CN-1, with liver transplantation being the only definitive treatment. Crigler-Najjar syndrome

  13. 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

  14. 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

  15. 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

  16. 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

  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: Patients with neuroferritinopathy, also called neurodegeneration with brain iron accumulation, type 2, (NBIA2) or

    E-print Network

    Das, Soma

    and histology findings are similar to those of neurodegeneration with brain iron accumulation 1 (NBIA1, formerly3/10 Clinical Features: Patients with neuroferritinopathy, also called neurodegeneration with brain iron accumulation, type 2, (NBIA2) or dominant adult-onset basal ganglia disease [OMIM # 606159

  19. Clinical Features: Patients with neuroferritinopathy, also called neurodegeneration with brain iron accumulation, type 2, (NBIA2) or

    E-print Network

    Ober, Carole

    and histology findings are similar to those of neurodegeneration with brain iron accumulation 1 (NBIA1, formerly6/11 Clinical Features: Patients with neuroferritinopathy, also called neurodegeneration with brain iron accumulation, type 2, (NBIA2) or dominant adult-onset basal ganglia disease [OMIM # 606159

  20. Clinical Features: Patients with neuroferritinopathy, also called neurodegeneration with brain iron accumulation, type 2, (NBIA2) or

    E-print Network

    Ober, Carole

    and histology findings are similar to those of neurodegeneration with brain iron accumulation 1 (NBIA1, formerly1/13 Clinical Features: Patients with neuroferritinopathy, also called neurodegeneration with brain iron accumulation, type 2, (NBIA2) or dominant adult-onset basal ganglia disease [OMIM # 606159

  1. Autism in Dravet syndrome: Prevalence, features, and relationship to the clinical characteristics of epilepsy and mental retardation

    Microsoft Academic Search

    Bing-Mei Li; Xiao-Rong Liu; Yong-Hong Yi; Yu-Hong Deng; Tao Su; Xin Zou; Wei-Ping Liao

    2011-01-01

    Autism is a pervasive developmental disorder that frequently co-occurs with epilepsy. Dravet syndrome is a severe epileptic encephalopathy associated with psychomotor developmental delay. Autism in Dravet syndrome, however, has rarely been studied. In this study, the prevalence and features of autism in patients with Dravet syndrome, their potential association with mental retardation, and the clinical characteristics of epilepsy were investigated.

  2. Hepatocellular tumors miRNA profiling 1 MicroRNA profiling in hepatocellular tumors is associated to clinical features

    E-print Network

    Paris-Sud XI, Université de

    Hepatocellular tumors miRNA profiling 1 MicroRNA profiling in hepatocellular tumors is associated to clinical features and oncogene/tumor suppressor gene mutations Yannick Ladeiro1,2 , Gabrielle Couchy1: zucman@cephb.fr Short title: hepatocellular tumors miRNA profiling Acknowledgments: We thank Philippe

  3. 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

  4. An unbalanced (6q;13q) translocation in a male with clinical features of Ehlers-Danlos type II syndrome.

    PubMed

    Scarbrough, P R; Daw, J; Carroll, A J; Finley, S C

    1984-06-01

    Ehlers-Danlos syndrome has been divided into several different types according to the variety and severity of clinical manifestations, and may follow autosomal dominant, autosomal recessive, or X linked patterns of inheritance. Only rarely have chromosome anomalies been seen in patients manifesting phenotypic features of the syndrome and most are considered insignificant. However, one case report involved a balanced t(9;17)(q34;q11) in a female with the clinical features of Ehlers-Danlos type I and IV syndromes and, as noted by McKusick: "It is possible, furthermore, that certain very rare syndromes that are transmitted in a Mendelian manner are the result of small chromosome aberrations, such as deletion or inversion, affecting the action of several genes". We present a 14 year old male with features of Ehlers-Danlos type II syndrome and an unbalanced (6q;13q) translocation. PMID:6748022

  5. The networks from medical knowledge and clinical practice have small-world, scale-free, and hierarchical features

    NASA Astrophysics Data System (ADS)

    Tachimori, Yutaka; Iwanaga, Hiroaki; Tahara, Takashi

    2013-12-01

    Here, we constructed and analyzed a network (henceforth, “medical knowledge network”) derived from a commonly used medical text. We show that this medical knowledge network has small-world, scale-free, and hierarchical features. We then constructed a network from data from a hospital information system that reflected actual clinical practice and found that this network also had small-world, scale-free, and hierarchical features. Moreover, we found that both the diagnosis frequency distribution of the hospital network and the diagnosis degree distribution of the medical knowledge network obeyed a similar power law. These findings suggest that the structure of clinical practice may emerge from the mutual influence of medical knowledge and clinical practice, and that the analysis of a medical knowledge network may facilitate the investigation of the characteristics of medical practice.

  6. The clinical and laboratory features of chronic sensory ataxic neuropathy with anti-disialosyl IgM antibodies.

    PubMed

    Willison, H J; O'Leary, C P; Veitch, J; Blumhardt, L D; Busby, M; Donaghy, M; Fuhr, P; Ford, H; Hahn, A; Renaud, S; Katifi, H A; Ponsford, S; Reuber, M; Steck, A; Sutton, I; Schady, W; Thomas, P K; Thompson, A J; Vallat, J M; Winer, J

    2001-10-01

    The clinical and laboratory phenotype of a paraproteinaemic neuropathy syndrome termed chronic sensory ataxic neuropathy with anti-disialosyl IgM antibodies is described in a series of 18 cases. Previous single case reports have outlined some features of this syndrome. All 18 cases were defined by the presence of serum IgM antibodies which react principally with NeuAc (alpha2-8)NeuAc(alpha2-3)Gal-configured disialosyl epitopes common to many gangliosides including GDlb, GD3, GTlb and GQlb. In 17 out of 18 cases, the serum contained benign IgM paraproteins, and in four of these cases at least two IgM paraproteins were present. The IgM antibodies were also cold agglutinins in 50% of cases. The clinical picture comprised a chronic neuropathy with marked sensory ataxia and areflexia, and with relatively preserved motor function in the limbs. In addition, 16 out of 18 cases had motor weakness affecting oculomotor and bulbar muscles as fixed or as relapsing-remitting features. When present in their entirety, these clinical features have been described previously under the acronym CANOMAD: chronic ataxic neuropathy, ophthalmoplegia, IgM paraprotein, cold agglutinins and disialosyl antibodies. This distribution of clinical features is reminiscent of Miller Fisher syndrome, in which acute-phase anti-disialylated ganglioside IgG antibodies are found. Clinical electrophysiology and nerve biopsy show both demyelinating and axonal features. A partial response to intravenous immunoglobulin and other treatments is reported in some cases. PMID:11571215

  7. [Fallopian tube carcinoma: clinical and morphological features, analysis of 69 cases].

    PubMed

    Ul'rikh, E A; Papunidi, M D; Urmancheeva, A F; Matsko, D E

    2014-01-01

    Primary fallopian tube carcinoma (PFTC) is a rare gynecological malignancy accounting 0.14-1.8% cases. The purpose of the study was to assess clinical, morphological and immunohistochemical features of PFTC. All the cases of PFTC were detected during 1980-2005. 31 cases of PFTC were analyzed as to Ki-67, HER-2 expression, estrogen receptors (ER), progesterone receptors (PR), grade and stage. 69 cases of PFTC were detected with an average age of 55, 6 years (range 21-73 years). Stage I detected in 34.2% cases, Stages II and III--32.8%, Ca in situ--10%. Among 31 patients ER were positive in 75% (n = 23), PR were positive in 46% (n = 14): ER+PR+ in 12 (38%) cases, ER+PR- in 11 (36%) cases, ER-PR+ in 2 (6%) cases, ER-PR- in 6 (19.4%) cases. Only 2 cases were HER-2 positive with ER+PR+ and ER-PR- status. Ki-67 labeling index (LI, %) values ranged from 15 to 95% (median 60) with average rate 58.03% +/- 4.08. Ki-67 LI values > or = 60% were graded as high and < 60% as low. We did not find any significant differences in Ki-67 LI values among tumors of various Receptor Status. However Ki-67 L1 > 60% was associated with poor 5-year survival (14%), vs 75% in Ki-67 L1 < 60%. Primary fallopian tube carcinoma is mainly HER-2 negative, receptor positive in 79.6%. Ki-67 rate is irrespective of ER PR status. However the level of Ki-67 (> 60%) was a significant survival prognostic factor. PMID:25033694

  8. 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

  9. [Far lateral lumbar disc herniation: clinical and radiographical features of three cases].

    PubMed

    Fujisawa, H; Igarashi, S; Koyama, T

    1996-04-01

    The authors report three operated cases of far lateral lumbar disc herniation (FLLDH) during the past two years and discuss their diagnostic pitfalls. Until recently FLLDH was hardly ever diagnosed because the myelography was negative in almost all cases. Since the advent of CT and/or MRI, FLLDH has been found to be not such a rare entity. FLLDH has also been found to reveal characteristic clinical features and radiographical findings. Usual lumbar disc herniations occur at L4/5 or L5/S1 levels, producing low back pain with the pain or sensory disturbance from the posterolateral thigh down to the foot. In contrast, FLLDH affects upper lumbar levels and produces severe anterolateral thigh pain, dysesthesia resulting from nerve root or dorsal root ganglion (DRG) compression in the foraminal or extraforaminal region. The level predilection of these two groups can be attributed to the difference of the facet joint planes between the upper and lower lumbar levels. The facets with a coronal plane are resistant to lateral bending and rotational forces, but those with a sagittal plane are unstable resulting in more shearing stress to the intervertebral discs. A patient with definite neurological signs but a negative myelography should be examined for FLLDH by using a high-resolution CT or MRI. MRI clearly shows the detailed anatomical relationships between herniated disc and nerve root or DRG in the foraminal and extraforaminal regions. As well as thin-sliced axial images, sagittal MR images that include the foraminal zone are useful for detecting a direct nerve root compression from FLLDH. The authors conclude that gait disturbance due to severe leg pain, antero-lateral thigh pain or dysesthesia are characteristic of FLLDH, and that either a foraminal or extraforaminal herniated disc or both on a CT and/or MRI are diagnostic radiographical findings of FLLDH. PMID:8934890

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

    PubMed Central

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

    2015-01-01

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

  11. Limb-kinetic apraxia in corticobasal degeneration: clinical and kinematic features.

    PubMed

    Leiguarda, Ramón C; Merello, Marcelo; Nouzeilles, María Inés; Balej, Jorge; Rivero, Alberto; Nogués, Martín

    2003-01-01

    Current concepts regarding the organisation of the motor system indicate the existence of a frontoparietal circuit involved in prehension and manipulation, whose damage may result in a motor behavioural disorder strongly resembling the one originally described as limb-kinetic apraxia. To determine the specific clinical and kinematic features of this distinctive praxic disorder, 5 patients with corticobasal degeneration (apraxic group), 5 with Parkinson's disease (nonapraxic group), and 10 control subjects were studied by a comprehensive apraxic battery, three-dimensional motion analysis of manipulative movements and motor evoked potentials. A mathematical model [quality of movement coefficient (QMC)] was applied to quantify differential kinematic characteristics between elementary motor deficits and the praxic disorder. Transcranial magnetic stimulation was used to evaluate corticomotoneural projections and cortical inhibition. All five patients in the apraxic group exhibited a unilateral praxic deficit characterised by derangement of fractionated and segmental finger movements. QMC was significantly greater in apraxic than in nonapraxic patients (P < 0.02), revealing a chaotic movement with marked interfinger uncoordination. Conventional transcranial magnetic stimulation parameters were within normal limits in both groups of patients; however, the silent period was significantly shorter in the apraxic limb when compared with control subjects (P < 0.001). Limb-kinetic apraxia is a distinctive disorder affecting the performance of finger and hand postures and movements over and above a corticospinal or basal ganglion deficit. Disruption of the frontoparietal circuit devoted to grasping and manipulation, together with defective cortical inhibition, which would also interfere with the selection and control of hand muscle activity, are the most likely underlying physiopathological mechanisms of limb-kinetic apraxia in patients with corticobasal degeneration. PMID:12518300

  12. Clinical features of bacterial meningitis in Italy: a multicenter prospective observational study.

    PubMed

    Lazzarini, L; Toti, M; Fabris, P; Conti, E; Magni, G; Mazzotta, F; De Lalla, F

    2008-08-01

    We carried out a prospective observational study on clinical features of bacterial meningitis. Between October 2002 and June 2005, 322 adult bacterial meningitis cases in 49 infectious disease wards in Italy (MENTORE study group) were enrolled in the study. 133 cases were due to Streptococcus pneumoniae, 44 to Neisseria meningitidis and 145 to other microorganisms. A high SAPS score and coma on admission, as well as need for mechanical ventilation, were more frequent in the pneumococcal meningitis group. Neurological impairment was present in 151 out of 311 patients, and was more frequent in pneumococcal meningitis. A single antibiotic was employed in only 90 of 315 cases; a combination of ceftriaxone and ampicillin was the most frequently administered treatment. Ceftriaxone was also the single most used drug. Adjunctive treatment with steroids was administered in 210 out of 303 patients for a median duration of 7 days. Median duration of fever was 4 days, and median hospital stay was 16 days; hospitalization was significantly longer in the pneumococcal meningitis group. At discharge, neurological impairment was still present in 59 (21%) of 277 patients. Twenty (6.9%) out of 289 patients died during hospitalization. Distribution of adverse outcome (death and neurological impairment) in patients treated with or without steroids and within different time zones between onset of symptoms and commencement of antibiotics was studied; a trend toward a worse prognosis was seen in patients treated more than 24 hours after onset of the disease.In our study, infectious disease clinicians made extensive use of steroids as adjuvant therapy for bacterial meningitis, even in absence of detailed national and local guidelines. Mortality seemed to be lower in comparison with the literature. PMID:18676229

  13. 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

  14. HLA Genetics and Clinical Features of Self-Treated Patients on a Gluten-Free Diet

    PubMed Central

    Coburn, John A.; Vande Voort, Jennifer L.; Lahr, Brian D.; Van Dyke, Carol T.; Kroning, Cynthia M.; Wu, Tsung-Teh; Gandhi, Manish J.; Murray, Joseph A.

    2013-01-01

    Background and Aims Increasingly, persons start a gluten-free diet (GFD) without a clear celiac disease (CD) diagnosis. Human leukocyte antigen (HLA) genotyping is useful in ruling out CD in patients with equivocal results of serologic testing or small-bowel biopsy (SBB), but its utility and the clinical features of patients on self-treated GFD (ST-GFD) are largely unknown. Methods Retrospective study of single tertiary care center cohort compared 137 patients on ST-GFD and 443 patients with well-defined CD. We compared HLA genotype, symptoms, serologic and SBB results, and response to GFD between the 2 groups. Analysis used univariate logistic regression modeling, adjusted for age and sex. Results Patients with ST-GFD presented more often with diarrhea (P<.001), abdominal distention (P<.001), flatulence (P=.002), cramping (P=.02), itchy skin (P=.02), oral inflammation (P=.04), and constipation (P=.01) and less often with anemia (P<.001) or malaise (P=.02) than CD patients. In addition, 41% did not carry DQ2.5 and DQ8 vs 6% of CD patients (P<.001). Only 2% of ST-GFD patients had SBB clearly consistent with CD. Family history of CD showed no difference between groups (P=.77). Although CD patients had a statistically higher rate of GFD benefit, both groups had a high responsiveness rate (98% vs 94%; P=.03). Conclusions HLA genotyping is useful in evaluating patients on a ST-GFD. Although confirmed CD is rare in self-treated patients, most still report benefit from GFD regardless of DQ2 and DQ8 status. Nonceliac gluten sensitivity may play a role. PMID:23632357

  15. Clock gene expression levels and relationship with clinical and pathological features in colorectal cancer patients.

    PubMed

    Mazzoccoli, G; Panza, A; Valvano, M R; Palumbo, O; Carella, M; Pazienza, V; Biscaglia, G; Tavano, F; Di Sebastiano, P; Andriulli, A; Piepoli, A

    2011-12-01

    The clock gene machinery controls cellular metabolism, proliferation, and key functions, such as DNA damage recognition and repair. Dysfunction of the circadian clock is involved in tumorigenesis, and altered expression of some clock genes has been found in cancer patients. The aim of this study was to evaluate the expression levels of core clock genes in colorectal cancer (CRC). Quantitative real-time polymerase chain reaction (qPCR) was used to examine ARNTL1, CLOCK, PER1, PER2, PER3, CRY1, CRY2, Timeless (TIM), TIPIN, and CSNK1? expression levels in the tumor tissue and matched apparently healthy mucosa of CRC patients. In the tumor tissue of CRC patients, compared to their matched healthy mucosa, expression levels of ARNTL1 (p=.002), PER1 (p=.002), PER2 (p=.011), PER3 (p=.003), and CRY2 (p=.012) were lower, whereas the expression level of TIM (p=.044) was higher. No significant difference was observed in the expression levels of CLOCK (p=.778), CRY1 (p=.600), CSNK1 (p=.903), and TIPIN (p=.136). As to the clinical and pathological features, a significant association was found between low CRY1 expression levels in tumor mucosa and age (p=.026), and female sex (p=.005), whereas high CRY1 expression levels in tumor mucosa were associated with cancer location in the distal colon (p?=?.015). Moreover, high TIM mRNA levels in the tumor mucosa were prevalent whenever proximal lymph nodes were involved (p= .013) and associated with TNM stages III-IV (p=.005) and microsatellite instability (p=.015). Significantly poorer survival rates were evidenced for CRC patients with lower expression in the tumor tissue of PER1 (p=.010), PER3 (p= .010), and CSNKIE (p=.024). In conclusion, abnormal expression levels of core clock genes in CRC tissue may be related to the process of tumorigenesis and exert an influence on host/tumor interactions. PMID:22080729

  16. Limited usefulness of microsatellite markers from the malaria vector Anopheles gambiae when applied to the closely related species Anopheles melas.

    PubMed

    Deitz, Kevin C; Reddy, Vamsi P; Reddy, Michael R; Satyanarayanah, Neha; Lindsey, Michael W; Overgaard, Hans J; Jawara, Musa; Caccone, Adalgisa; Slotman, Michel A

    2012-07-01

    Anopheles melas is a brackish water mosquito found in coastal West Africa where it is a dominant malaria vector locally. In order to facilitate genetic studies of this species, 45 microsatellite loci originally developed for Anopheles gambiae were sequenced in An. melas. Those that were suitable based on repeat number and flanking regions were examined in 2 natural populations from Equatorial Guinea. Only 15 loci were eventually deemed suitable as polymorphic markers in An. melas populations. These loci were screened in 4 populations from a wider geographic range. Heterozygosity estimates ranged from 0.18 to 0.79, and 2.5-15 average alleles were observed per locus, yielding 13 highly polymorphic markers and 2 loci with lower variability. To examine the usefulness of microsatellite markers when applied in a sibling species, the original An. gambiae specific markers were used to amplify 5 loci in An. melas. Null alleles were found for 1 An. gambiae marker. We discuss the pitfalls of using microsatellite loci across closely related species and conclude that in addition to the problem of null alleles associated with this practice, many loci may prove to be of very limited use as polymorphic markers even when used in a sibling species. PMID:22593601

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

    PubMed Central

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

    2015-01-01

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

  18. Experimentally induced orchitis associated with Arcanobacterium pyogenes: clinical, ultrasonographic, seminological and pathological features.

    PubMed

    Gouletsou, P G; Fthenakis, G C; Cripps, P J; Papaioannou, N; Lainas, T; Psalla, D; Amiridis, G S

    2004-10-01

    The objectives of this study were to describe the features of experimentally induced orchitis associated with Arcanobacterium pyogenes and confirm the pathogenicity of the organism for the ovine testicle. One testicle of each of nine rams was inoculated with 1.3 +/- 10(4) colony-forming-units of an A. pyogenes isolate and regular clinical, ultrasonographic, bacteriological and seminological examinations were carried out up to 204 days after challenge. The rams were sequentially euthanatized 3, 6, 9, 18, 30, 50, 71, 113 and 204 days after challenge and a gross- and histopathological examination of their testicles was performed. All rams developed clinical orchitis and general signs. The initial ultrasonographic findings were changes of size and echogenicity of the genitalia, whilst in the long-standing phase they were wider appearance of the mediastinum testis, presence of hyperechogenic foci, changes of echogenicity of the genitalia and increased echogenicity of the scrotum and tunics. The following changes in semen evaluation parametres were recorded: the pH, the percentage of dead sperms, the percentage of abnormal sperms and the number of nonsperm round cells increased, whilst the mass motility, the individual motility and the sperm concentration decreased; the following sperm defects were observed: misshapen or piriform heads, sperms with coiled tails, sperms without tail and sperms with proximal cytoplasmic droplet; at the early stages neutrophils were the prevailing nonsperm round cell type, later the proportion of immature germ cells increased and in the long-standing phase there were enlogated spermatids and leucocytes; it is noteworthy that semen evaluation parametres were restored to normal at the late stages of the disease. A. pyogenes was consistently isolated from the semen samples after challenge, as well as from the dissected genitalia. The salient post-mortem findings were: initially, subcutaneous oedema, fluid into the vaginal cavity, congested and distended vessels, increased size of the genitalia and a hard dark area inside the testicles; subsequently, there were changes of size of the genitalia, thickening of scrotum and tunics and presence of fibrin on the testicular surface; in the long-standing phase of the disorder, there were induration of scrotum and tunics with adhesion between the tunics and discolouration of the surface of the genitalia. The prominent histopathological changes were observed in the inoculated testicles; milder changes were seen in the respective epididymides; interstitial oedema, diffuse neutrophilic infiltration and extravasation were observed in the early stages after challenge; lymphocytic infiltration with concurrent fibrosis, mineralization and inspissation of the tubular elements of the seminiferous tubules and presence of vacuolated Sertoli cells were seen later; finally, regeneration of the epithelium and presence of Sertoli cells and spermatogonia with various degrees of spermatogenic activity were evident. These findings, allied to the isolation of A. pyogenes from field cases of ovine orchitis, provide clear evidence that A. pyogenes is pathogenic for the ovine genitalia; however, the mechanisms of transition of the organism from commensal to pathogenic state are not clear. It is also noteworthy that some degree of fertility was restored in the late stages of the disorder. Ultrasonography appeared to be useful for the diagnosis of intra-scrotal abnormalities, especially during investigation of the long-standing stage of the disease, after clinical findings have subsided. PMID:15325557

  19. DOES EXPOSURE TO MATERNAL SMOKING DURING PREGNANCY AFFECT THE CLINICAL FEATURES OF ADHD? RESULTS FROM A CONTROLLED STUDY

    PubMed Central

    Biederman, Joseph; Petty, Carter R.; Bhide, Pradeep G.; Woodworth, K. Yvonne; Faraone, Stephen

    2013-01-01

    Objectives Exposure to maternal smoking during pregnancy may be a significant risk factor for attention-deficit/hyperactivity disorder (ADHD) independently of family history of ADHD. The main aim of this study was to examine whether the clinical profile of ADHD differs between children with and without exposure to maternal smoking during pregnancy. Methods This was a case-control study of boys and girls with and without ADHD ascertained from psychiatric and pediatric sources. Maternal smoking during pregnancy was defined by interviews with subjects’ mothers. Main outcome measures were ADHD symptoms and associated clinical features in children with and without exposure to maternal smoking during pregnancy. Results No significant differences were found between ADHD children with and without exposure to maternal smoking during pregnancy on clinical characteristics. When these analyses were repeated in the subgroup of subjects without parental history of ADHD, there were also no statistically significant differences found. Conclusions Despite adequate statistical power, no significant differences were found between ADHD children with and without exposure in the clinical features of ADHD and associated disorders. Results provide support for the notion that ADHD cases resulting from exposure to maternal smoking during pregnancy have similar clinical profiles as other ADHD cases. PMID:21545244

  20. Clinical features of malignant syndrome in Parkinson's disease and related neurological disorders

    Microsoft Academic Search

    Toshihide Harada; Kyoko Mitsuoka; Rumi Kumagai; Yoshio Murata; Yumiko Kaseda; Hidekazu Kamei; Fumiko Ishizaki; Shigenobu Nakamura

    2003-01-01

    Introduction. We elucidated the cause and clinical characteristics of malignant syndrome (MS) in patients with Parkinson's disease (PD), early-onset parkinsonism (EOP), and other neurological disorders.Materials and methods. Subjects were 260 patients with PD or EOP, and three patients with other neurological disorders associated with MS. We studied clinical symptoms before and after the onset of MS, and evaluated autonomic function

  1. 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

  2. Clinical features of patients with Guillain-Barré syndrome at seven hospitals on the East Coast of Australia.

    PubMed

    Blum, Stefan; Reddel, Stephen; Spies, Judy; McCombe, Pamela

    2013-12-01

    To document the clinical features of Guillain-Barré syndrome (GBS) in Australia, we performed a retrospective analysis of all patients admitted to several hospitals along the East Coast of Australia from 2000 to 2012. Using hospital records, we reviewed all patients with a diagnosis of GBS admitted to seven hospitals. From these, we report information of subjects who fulfilled standard diagnostic criteria. We excluded patients where inadequate information was available or who were under the age of 18. We report the features of 335 patients, in 228 of whom neurophysiological data were available. There were 168 cases of acute inflammatory demyelinating polyneuropathy (AIDP), 17 of acute motor axonal neuropathy (AMAN), 4 of acute motor and sensory axonal neuropathy (AMSAN), and 35 of Miller-Fisher syndrome (MFS). The median age at onset was 52.5?years (18-89?years) with a male?:?female ratio of 1.61?:?1. Upper respiratory tract infections were the most frequently identified trigger (151 subjects, 44.5%). Most patients were severely affected, with 42.7% of subjects bedbound, and an additional 24% requiring ventilatory support. GBS affects adults of all ages and usually follows a severe clinical course. In contrast to other autoimmune diseases, males are more frequently affected. A wide variety of triggering factors leads to a relatively stereotypical clinical syndrome. The most common variant of GBS in Australia is AIDP. This study shows that the clinical features of GBS in Australia are similar to that previously reported and confirms the male predominance, increased incidence with age, and frequent evidence of peripheral nerve demyelination as features of GBS. PMID:24172315

  3. Clinical Features and Outcomes in Children with Antineutrophil Cytoplasmic Autoantibody-Positive Glomerulonephritis Associated with Propylthiouracil Treatment

    Microsoft Academic Search

    MIKIYA FUJIEDA; MOTOSHI HATTORI; HIDEAKI KURAYAMA; YASUSHI KOITABASHI

    2002-01-01

    A retrospective investigation was conducted by members of the Japanese Society for Pediatric Nephrology from 1990 to 1997 to define the clinical features and outcomes in children with antineutrophil cytoplasmic autoantibody (ANCA)-positive glomerulonephritis associated with propyl- thiouracil treatment. Seven Japanese pediatric patients who had myeloperoxidase-specific ANCA-positive biopsy-proven pauci-immune necrotizing crescentic glomerulonephritis asso- ciated with propylthiouracil administration were entered in the

  4. The clinical and laboratory features of chronic sensory ataxic neuropathy with anti-disialosyl IgM antibodies

    Microsoft Academic Search

    H. J. Willison; C. P. O'Leary; J. Veitch; L. D. Blumhardt; M. Busby; M. Donaghy; P. Fuhr; H. Ford; A. Hahn; S. Renaud; H. A. Katifi; S. Ponsford; M. Reuber; A. Steck; I. Sutton; W. Schady; P. K. Thomas; A. J. Thompson; J.-M. Vallat; J. Winer

    2001-01-01

    Summary The clinical and laboratory phenotype of a para- proteinaemic neuropathy syndrome termed chronic sensory ataxic neuropathy with anti-disialosyl IgM anti- bodies is described in a series of 18 cases. Previous single case reports have outlined some features of this syndrome. All 18 cases were defined by the presence of serum IgM antibodies which react principally with NeuAc (?2-8)NeuAc(?2-3)Gal-configured disialosyl

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

    PubMed Central

    2013-01-01

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

  6. An unbalanced (6q;13q) translocation in a male with clinical features of Ehlers-Danlos type II syndrome

    Microsoft Academic Search

    P R Scarbrough; J Daw; A J Carroll; S C Finley

    1984-01-01

    Ehlers-Danlos syndrome has been divided into several different types according to the variety and severity of clinical manifestations, and may follow autosomal dominant, autosomal recessive, or X linked patterns of inheritance. Only rarely have chromosome anomalies been seen in patients manifesting phenotypic features of the syndrome and most are considered insignificant. However, one case report involved a balanced t(9;17)(q34;q11) in

  7. Clinical, HLA, and Small Bowel Immunohistochemical Features of Children with Positive Serum Antiendomysium Antibodies and Architecturally Normal Small Intestinal Mucosa

    Microsoft Academic Search

    Francesco Paparo; Emma Petrone; Antonella Tosco; Maria Maglio; Melissa Borrelli; Virginia M. Salvati; Erasmo Miele; Luigi Greco; Salvatore Auricchio; Riccardo Troncone

    2005-01-01

    BACKGROUND:Antiendomysium antibodies have a high sensitivity and specificity for celiac disease. A small percentage of subjects positive for these antibodies have a small intestinal mucosa hitherto considered normal.OBJECTIVES:The aim of this study was to characterize the clinical, serological, immunogenetic, and immunohistological features of these subjects.METHODS:From 409 patients who were positive for celiac-related antibodies, we selected 24 (5.9%) patients who had

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

    PubMed Central

    2014-01-01

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

  9. 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

  10. 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

  11. Clinical Features: Pantothenate Kinase-Associated Neurodegeneration (PKAN) is one type of NBIA (neurodegeneration with brain

    E-print Network

    Ober, Carole

    (neurodegeneration with brain iron accumulation) disorder. In 1922, PKAN was first described by two German by clinical stability. Most individuals with PANK2 mutations show brain iron accumulation on a T2-weighted MRI

  12. Clinical Features and a Clinician’s Diagnostic Approach to Hepatocellular Carcinoma

    Microsoft Academic Search

    Gaurav Mehta; David A. Sass

    \\u000a The clinical presentation of hepatocellular carcinoma may take on a variety of different forms, ranging from asymptomatic\\u000a (diagnosed via tumor markers or imaging studies) to a catastrophic hemoperitoneum with shock due to tumor rupture. This chapter\\u000a will highlight the many diverse clinical manifestations of hepatocellular carcinoma and describe the clinician’s role in screening\\u000a the “at-risk” population. It will touch on

  13. Canine mast cell tumours: a review of the pathogenesis, clinical features, pathology and treatment.

    PubMed

    Welle, Monika M; Bley, Carla Rohrer; Howard, Judith; Rüfenacht, Silvia

    2008-12-01

    Mast cells (MCs) are well known for their neoplastic transformation in solitary and multiple cutaneous mast cell tumours (MCTs), as well as visceral and systemic mastocytosis. Dogs have a unique risk of developing cutaneous MCTs, and they account for 7% to 21% of all canine skin tumours. The aetiology of canine MCTs is unknown but is probably multifactorial. This article reviews up-to-date knowledge on the pathogenesis, the clinical presentation, the clinical prognostic factors, the diagnostic workup including clinical staging, cytological findings, histological findings and the various grading systems which have been evaluated based on morphology, the assessment of proliferation markers and other factors such as vessel density. Furthermore, detailed information about current treatment protocols for canine cutaneous MCTs is provided. PMID:18980632

  14. Clinical features, diagnosis, and natural history of drug-induced liver injury.

    PubMed

    Hayashi, Paul H; Fontana, Robert J

    2014-05-01

    Patients with idiosyncratic drug-induced liver injury (DILI) can pose substantial diagnostic, prognostic, and therapeutic challenges to the practicing gastroenterologist. The presentation of DILI may vary from asymptomatic liver enzyme elevation to acute liver failure. Although most DILI resolves following drug discontinuation, up to 20% of patients progress to chronic DILI further challenging the clinicians diagnostic and management skills. Also, some medications can lead to advanced fibrosis, encephalopathy, and portal hypertension without significant elevation in liver enzymes during exposure. Finally, there are no objective tests to definitively diagnose DILI. Although causality assessment instruments are available, none are widely accepted or used in clinical practice. Therefore, the diagnosis of DILI depends on thorough and accurate history taking, follow-up of the patient's clinical course and excluding more common causes of liver injury. In this review, we discuss the variable clinical presentations, course, and diagnostic methods used to establish a diagnosis and prognosis in DILI. PMID:24879979

  15. Molecular Genetics and Clinical-Pathology Features of Hereditary Nonpolyposis Colorectal Carcinoma (Lynch Syndrome)

    Microsoft Academic Search

    Henry T. Lynch; Thomas Smyrk; Jane F. Lynch

    1998-01-01

    Hereditary nonpolyposis colorectal cancer (HNPCC), also termed Lynch syndrome, was originally called cancer family syndrome. Historically, in 1913 Aldred Warthin, a pathologist, published a family, now known as Family G, which had features of HNPCC. It was first delineated as a hereditary cancer syndrome in the mid-1960s by Lynch. There was an apparent autosomal dominant mode of inheritance of colorectal

  16. 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

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

    SciTech Connect

    Olson, H.G. (Univ. of California, Irvine); Lyons, K.P.; Aronow, W.S.; Stinson, P.J.; Kuperus, J.; Waters, H.J.

    1981-10-01

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

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

    SciTech Connect

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

    1981-10-01

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

  19. 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

  20. Clinical Features: Patients with Infantile Neuroaxonal Dystrophy (INAD) [OMIM #256600] have infantile onset of progressive

    E-print Network

    Ober, Carole

    : Mutations of the phospholipase A2 group IV gene (PLA2G6) [OMIM #603604] have been identified in patients with Karak syndrome, INAD and NBIA [2,3]. PLA2G6 has 16 coding exons, and more than 45 different mutations have been identified. Mutations in PLA2G6 have been found in 39/44 patients with a clinical

  1. Influence of Infecting Serogroup on Clinical Features of Leptospirosis in Dogs

    Microsoft Academic Search

    Richard E. Goldstein; Rebecca C. Lin; Catherine E. Langston; Peter V. Scrivani; Hollis N. Erb; Stephen C. Barr

    2006-01-01

    The purpose of this study was to review recent cases of leptospirosis seen at referral centers in New York State and to identify differences in clinical or clinicopathologic aspects of the disease among different suspected infecting serogroups. Medical records at the Cornell University Hospital for Animals and the Animal Medical Center in New York City were reviewed to identify dogs

  2. Acute lymphoblastic leukaemia in adults: Immunological subtypes and clinical features at presentation

    Microsoft Academic Search

    M. B. van't Veer; W. L. J. van Putten; L. F. Verdonck; G. J. Ossenkoppele; B. Löwenberg; J. C. Kluin-Nelemans; P. W. Wijermans; H. C. Schouten; W. Sizoo; A. W. Dekker

    1993-01-01

    Summary In 91 of 106 adult patients with acute lymphoblastic leukemia (ALL) enrolled in the treatment protocol ALL HOVON-5 between May 1988 and October 1991, the immunophenotype of the leukemia was determined and correlated with clinical characteristics at presentation. The immunological marker analysis was performed in ten laboratories, all members of the Dutch Study Group on Immunophenotyping of Leukemias and

  3. The clinical features of migraine as a manifestation of allergic disease

    Microsoft Academic Search

    C. W. Wilson; J. G. Kirker; H. Warnes; M. OMalley

    1980-01-01

    Patients with a clinical history of migraine were evaluated psychiatrically, and by electroencephalography. They were challenged with food antigens by skin-prick test, and abdominal symptoms were evaluated following oral ingestion of food allergens. A significant correlation was found between challenge with specific food allergens and the development of migraine headaches, the appearance of abdominal symptoms and the occurrence of positive

  4. Clinical features of hereditary progressive arthro-ophthalmopathy (Stickler syndrome): A survey

    Microsoft Academic Search

    Gunnar B. Stickler; Wendy Hughes; Pat Houchin

    2001-01-01

    Purpose: To define variations in the clinical manifestations of Stickler syndrome. Methods: A questionnaire was sent to 612 persons. Results: Of the 316 usable replies, 95% of persons had eye problems (retinal detachment occurred in 60% of patients, myopia in 90%, and blindness in 4%); 84% had problems with facial structures such as a flat face, small mandible, or cleft

  5. Childhood Behcet's disease: clinical features and comparison with adult- onset disease

    Microsoft Academic Search

    I. Krause; Y. Uziel; D. Guedj; M. Mukamel; L. Harel; Y. Molad; A. Weinberger

    1999-01-01

    Objective. To study the clinical spectrum of Behcet's disease (BD) in childhood, in comparison to adult-onset disease. Methods. Nineteen children, who fulfilled disease criteria up to the age of 16 yr, were studied. The results were compared to those of 34 adult patients with BD. An activity index and severity score were calculated for both study groups. Results. The mean

  6. Clinical features of Behçet's disease in children: An international collaborative study of 86 cases

    Microsoft Academic Search

    Isabelle Koné-Paut; Sebahattin Yurdakul; Sultan A. Bahabri; Nahid Shafae; Seza Ozen; Huri Özdogan; Jean Louis Bernard

    1998-01-01

    Objectives: The objective of this study was to characterize the clinical picture of Behçet's disease (BD) in children. Study design: A questionnaire was completed by five BD specialists from Turkey, France, Iran, or Saudi Arabia. We first reviewed 86 cases retrospectively with a specially designed computerized database and then selected 65 who met the criteria of the International Study Group

  7. 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

  8. A new disease-related mutation for mitochondrial encephalopathy lactic acidosis and strokelike episodes (MELAS) syndrome affects the ND4 subunit of the respiratory complex I

    SciTech Connect

    Lertrit, P.; Noer, A.S.; Kapsa, R.; Marzuki, S. (Monash Univ., Clayton, Victoria (Australia)); Jean-Francois, M.J.B.; Thyagarajan, D.; Byrne, E. (St. Vincent's Hospital, Fitzroy, Victoria (Australia)); Dennett, X. (Univ. of Melbourne, Parkville, Victoria (Australia)); Lethlean, K. (Prince Henry Hospital, Sydney (Australia))

    1992-09-01

    The molecular lesions in two patients exhibiting classical clinical manifestations of MELAS (mitochondrial encephalopathy, lactic acidosis, and strokelike episodes) syndrome have been investigated. A recently reported disease-related A[yields]G base substitution at nt 3243 of the mtDNA, in the DHU loop of tRNA[sup Leu], was detected by restriction-enzyme analysis of the relevant PCR-amplified segment of the mtDNA of one patient but was not observed, by either restriction-enzyme analysis or nucleotide sequencing, in the other. To define the molecular lesion in the patient who does not have the A[yields]G base substitution at nt 3243, the total mitochondrial genome of the patient has been sequenced. An A[yields]G base substitution at nt 11084, leading to a Thr-to-Ala amino acid replacement in the ND4 subunit of the respiratory complex I, is suggested to be a disease-related mutation. 49 refs., 7 figs., 1 tab.

  9. Melas with point mutations involving tRNALeu (A3243G) and tRNAGlu(A14693g).

    PubMed

    Tzen, Chin-Yuan; Thajeb, Peterus; Wu, Tsu-Yen; Chen, Shiu-Ching

    2003-11-01

    The syndrome of mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episode (MELAS) is typically associated with a single point mutation in the mitochondrial genome (mtDNA). Because mtDNA is known to have a higher mutation rate than nuclear DNA, we speculate that some patients with MELAS syndrome may harbor more than one mutation in mtDNA. For this purpose, mtDNA extracted from muscle containing dysmorphic mitochondria from a 32-year-old man with MELAS was sequenced in its entirety to identify all possible mutations. The result showed a homoplasmic A14693G and a heteroplasmic A3243G. The A14693G transition was not present in 205 unrelated control individuals, was not seen in 76 species randomly selected from GenBank, and appears to disrupt the base pairing within the T-loop of mtDNA tRNA(Glu). His asymptomatic siblings' blood showed wild-type at these positions, whereas the blood of the patient's oligosymptomatic diabetic mother had a heteroplasmic A14693G and an apparent homoplasmic wild-type A3243, suggesting an association of A14693G with diabetes mellitus. This case demonstrates the importance of sequencing the mtDNA in its entirety to evaluate the molecular basis of mitochondriopathy. PMID:14571459

  10. Four New Families with Autosomal Dominant Partial Epilepsy with Auditory Features: Clinical Description and Linkage to Chromosome 10q24

    PubMed Central

    Winawer, Melodie R.; Boneschi, Filippo Martinelli; Barker-Cummings, Christie; Lee, Joseph H.; Liu, Jianjun; Mekios, Constantine; Gilliam, T. Conrad; Pedley, Timothy A.; Hauser, W. Allen; Ottman, Ruth

    2009-01-01

    Summary Purpose Autosomal dominant partial epilepsy with auditory features (ADPEAF) is a rare form of nonprogressive lateral temporal lobe epilepsy characterized by partial seizures with auditory disturbances. The gene predisposing to this syndrome was localized to a 10-cM region on chromosome 10q24. We assessed clinical features and linkage evidence in four newly ascertained families with ADPEAF, to refine the clinical phenotype and confirm the genetic localization. Methods We genotyped 41 individuals at seven microsatellite markers spanning the previously defined 10-cM minimal genetic region. We conducted two-point linkage analysis with the ANALYZE computer package, and multipoint parametric and nonparametric linkage analyses as implemented in GENEHUNTER2. Results In the four families, the number of individuals with idiopathic epilepsy ranged from three to nine. Epilepsy was focal in all of those with idiopathic epilepsy who could be classified. The proportion with auditory symptoms ranged from 67 to 100%. Other ictal symptoms also were reported; of these, sensory symptoms were most common. Linkage analysis showed a maximum 2-point LOD score of 1.86 at (? = 0.0 for marker D10S603, and a maximum multipoint LOD score of 2.93. Conclusions These findings provide strong confirmation of linkage of a gene causing ADPEAF to chromosome 10q24. The results suggest that the susceptibility gene has a differential effect on the lateral temporal lobe, thereby producing the characteristic clinical features described here. Molecular studies aimed at the identification of the causative gene are underway. PMID:11879388

  11. Infantile Cellular Schwannoma Developing on the Skin with Atypical Clinical Features

    PubMed Central

    Fujimura, Taku; Tagami, Hachiro; Aiba, Setsuya

    2014-01-01

    Cellular schwannoma (CS) is a variety of schwannoma with a predominantly cellular growth, normally developing in middle-aged patients. In this report, we describe a 15-month-old infant with primary cutaneous CS on the knee. Because of its histologically malignant features, CS is sometimes overdiagnosed as a malignant nerve tumor. Therefore, awareness of this variant of schwannoma is important for dermatologists to avoid needless treatments for patients with CS. PMID:25232315

  12. Clinical and imaging features of male breast disease, with pathological correlation: a pictorial essay.

    PubMed

    Ng, Angeline Mei Lian; Dissanayake, Deepthi; Metcalf, Cecily; Wylie, Elizabeth

    2014-04-01

    The majority of male breast diseases are benign. The most common is gynaecomastia. Although it is rare, the most critical diagnosis is a malignancy. Radiologists are generally less familiar with breast disease in males compared with females. This pictorial review will highlight the ultrasonographic, mammographic and pathological features of a spectrum of benign and malignant male breast diseases. This includes gynaecomastia, fat necrosis, lipoma, epidermoid cyst, subareolar abscess, chronic inflammation, melanoma and ductal carcinoma. PMID:24690244

  13. [Various regional features of the clinical picture and epidemiology of amyotrophic lateral sclerosis].

    PubMed

    Alaev, B A

    1983-01-01

    An analysis of the incidence of lateral amyotrophic sclerosis (LAS) in the Samarkand region was carried out on the basis of the archive materials collected by a nervous disease clinic over 50 years (1931-1980). A total of 70 patients had been treated, with a tendency toward an increase in the number of such patients over the last two decades. There was a prevalence of patients from the indigenous population (51) in comparison with the non-indigenous one (19). People over 45 years of age contracted LAS more frequently (38 out of 70). The results of the author's own clinical observation of 23 patients are presented (1971-1980). The cervical-thoracic form of LAS occurred most frequently (18 out of 23) and the bulbar form was the most unfavourable. The need for regular epidemiologic examinations of LAS in the South of the Uzbek SSR is emphasized. PMID:6227173

  14. Signalment, clinical features, echocardiographic findings, and outcome of dogs and cats with ventricular septal defects: 109 cases (1992-2013).

    PubMed

    Bomassi, Eric; Misbach, Charlotte; Tissier, Renaud; Gouni, Vassiliki; Trehiou-Sechi, Emilie; Petit, Amandine M; Desmyter, Aude; Damoiseaux, Cécile; Pouchelon, Jean-Louis; Chetboul, Valérie

    2015-07-15

    Objective-To determine the signalment, clinical features, echocardiographic findings, and outcome of dogs and cats with ventricular septal defects (VSDs). Design-Retrospective case series. Animals-56 dogs and 53 cats with VSDs. Procedures-Medical records of dogs and cats with VSDs diagnosed by means of conventional and Doppler echocardiography were reviewed. Signalment, clinical status, echocardiographic findings, and outcome data were recorded. Variables of interest were analyzed for the study population and subgroups according to species and clinical status. Results-VSDs were isolated (ie, solitary defects) in 53 of 109 (48.6%) patients. Most (82/109 [75.2%]) VSDs were membranous or perimembranous. Terriers and French Bulldogs were commonly represented canine breeds. Most isolated VSDs were subclinical (43/53 [81%]) and had a pulmonary-to-systemic flow ratio < 1. 5 (24/32 [75%]). The VSD diameter and VSD-to-aortic diameter ratio were significantly correlated with pulmonary-to-systemic flow ratio in dogs (r = 0.529 and r = 0.689, respectively) and in cats (r = 0.713 and r = 0.829, respectively). One dog underwent open surgical repair for an isolated VSD and was excluded from survival analysis. Of the remaining animals with isolated VSDs for which data were available (37/52 [71%]), no subclinically affected animals developed signs after initial diagnosis, and median age at death from all causes was 12 years. Conclusions and Clinical Relevance-Most dogs and cats with isolated VSDs had a long survival time; few had clinical signs at diagnosis, and none with follow-up developed clinical signs after diagnosis. (J Am Vet Med Assoc 2015;247:166-175). PMID:26133216

  15. Clinical features of Psychogenic Nonepileptic Seizures (PNES): analysis of a Brazilian series

    Microsoft Academic Search

    Luciano De Paola; Carlos Silvado; Maria Joana Mäder; Gisele R. Minhoto; Lineu C. Werneck

    2006-01-01

    Rationale: An estimate of 3 million people present with the diagnosis of epilepsy in Brazil. Psychogenic Nonepileptic Seizures (PNES) are likely to occur in up to 2-33\\/100.000 people. Paradoxically, very few papers address this significant condition in the Brazilian literature. We describe a Brazilian PNES population and provide a review of the literature. Methods: we reviewed the clinical history, vídeo-electroencephalo-

  16. 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

  17. Cigarette Smoking and Drinking Water Source: Correlation with Clinical Features and Pathology of Superficial Bladder Carcinoma

    Microsoft Academic Search

    Vincenzo Serretta; Vincenzo Altieri; Giuseppe Morgia; Rosalinda Allegro; Antonina Ruggirello; Alessandra Di Lallo; Giuseppe Carrieri; Darvinio Melloni

    2009-01-01

    Objective: Water source and cigarette smoking are related to clinical characteristics and pathology of superficial transitional cell carcinoma of the bladder. Methods: Tumor number, dimension, G-grade, T-stage, recurrences, cigarette smoking and water supply were recorded in patients harboring Ta–T1 G1–3 transitional cell carcinoma of the bladder. Results: Of 577 patients, 61% had multiple and 36% recurrent tumors. Two hundred and

  18. The German cystic fibrosis quality assurance project: clinical features in children and adults

    Microsoft Academic Search

    B. Wiedemann; G. Steinkamp; B. Sens; M. Sternz

    2001-01-01

    v19.0 kg?m2, respectively) was observed in 26.8% of children and adolescents and in 38.3% of adults. Lung function was abnormal (forced expiratory volume in one second v80% predicted) in the majority of adults (83.9%) and in 42.5% of the younger patients. The mortality rate was 1.4 of 100 patients in 1997. No clear association of clinical status with centre size

  19. Fulminant ischaemic colitis with atypical clinical features complicating sickle cell disease.

    PubMed

    Karim, Anita; Ahmed, S; Rossoff, Leonard J; Siddiqui, R; Fuchs, A; Multz, A S

    2002-06-01

    Clinically significant ischaemic bowel injury is an exceedingly rare complication of sickle cell disease. It manifests as acute surgical abdomen and may respond to conservative treatment. An unusual fatal case of ischaemic colitis with minimal abdominal findings in a young male during a sickle cell vaso-occlusive pain crisis is described. This case demonstrates that an acute surgical abdomen should be considered in such patients who fail to respond to conservative management as untreated this condition may be fatal. PMID:12151697

  20. Carotid and vertebral artery dissections: clinical aspects, imaging features and endovascular treatment

    Microsoft Academic Search

    Christine M. Flis; H. Rolf Jäger; Paul S. Sidhu

    2007-01-01

    Extracranial arterial dissections are a recognised cause of stroke, particularly in young adults. Clinical diagnosis may be\\u000a difficult, and the classical triad of symptoms is uncommon. Imaging plays a pivotal role in the diagnosis of extracranial\\u000a arterial dissections, and this review provides a detailed discussion of the relative merits and limitations of currently available\\u000a imaging modalities. Conventional arteriography has been

  1. Epidemiology of constipation (EPOC) study in the United States: relation of clinical subtypes to sociodemographic features

    Microsoft Academic Search

    Walter F. Stewart; Joshua N. Liberman; Robert S. Sandler; Michael S. Woods; Annette Stemhagen; Elsbeth Chee; Richard B. Lipton; Christina E. Farup

    1999-01-01

    OBJECTIVE:Constipation is a common heterogeneous condition, possibly encompassing different clinical subtypes. Little is known about the comparative epidemiology of constipation subtypes. This study was conducted to estimate the prevalence of constipation subtypes and determine whether subtypes differ by sociodemographic factors.METHODS:Between June and September 1997, a telephone interview was conducted with individuals about their bowel habits in the preceding 3 months.

  2. 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

  3. Acute Q fever in Portugal. Epidemiological and clinical features of 32 hospitalized patients

    PubMed Central

    Palmela, Carolina; Badura, Robert; Valadas, Emília

    2012-01-01

    Introduction Q fever is a worldwide zoonosis caused by Coxiella burnetii. The main characteristic of acute Q fever is its clinical polymorphism, usually presenting as a febrile illness with varying degrees of hepatitis and/or pneumonia. Q fever is endemic in Portugal, and it is an obligatory notifiable disease since 1999. However, its epidemiological and clinical characteristics are still incompletely described. Methods We performed a retrospective study of 32 cases admitted in the Infectious Diseases Department, Santa Maria’s University Hospital, from January 2001 to December 2010, in whom acute Q fever was diagnosed by the presence of antibodies to phase II Coxiella burnetii antigens associated with a compatible clinical syndrome. Results Out of the 32 cases recorded, 29 (91%) were male, with a male:female ratio of 9.7:1. Individuals at productive age were mainly affected (88%, n=28, with ages between 25 and 64 years). Clinically, the most common manifestation of acute Q fever was hepatic involvement (84%, n=27), which occurred isolated in 53% (n=17) of the cases. Hepatitis was more severe, presenting with higher values of liver function tests, in patients presenting both pulmonary and hepatic involvement. Additionally, we report one case of myocarditis and another one with neurological involvement. Empiric but appropriate antibiotic therapy was given in 66% (n=21) of the cases. There was a complete recovery in 94% (n=30) of the patients, and one death. We confirmed the sub-notification of this disease in Portugal, with only 47% (n=15) of the cases notified. Conclusion In Portugal further studies are needed to confirm our results. From the 32 cases studied, acute Q fever presented more frequently as a febrile disease with hepatic involvement affecting mainly young male individuals. Furthermore, acute Q fever is clearly underdiagnosed and underreported in Portugal, which suggests that an increased awareness of the disease is needed, together with a broader use of serological testing. PMID:24432263

  4. 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

  5. Lexical patterns, features and knowledge resources for coreference resolution in clinical notes.

    PubMed

    Gooch, Phil; Roudsari, Abdul

    2012-10-01

    Generation of entity coreference chains provides a means to extract linked narrative events from clinical notes, but despite being a well-researched topic in natural language processing, general-purpose coreference tools perform poorly on clinical texts. This paper presents a knowledge-centric and pattern-based approach to resolving coreference across a wide variety of clinical records from two corpora (Ontology Development and Information Extraction (ODIE) and i2b2/VA), and describes a method for generating coreference chains using progressively pruned linked lists that reduces the search space and facilitates evaluation by a number of metrics. Independent evaluation results give an F-measure for each corpus of 79.2% and 87.5%, respectively. A baseline of blind coreference of mentions of the same class gives F-measures of 65.3% and 51.9% respectively. For the ODIE corpus, recall is significantly improved over the baseline (p<0.05) but overall there was no statistically significant improvement in F-measure (p>0.05). For the i2b2/VA corpus, recall, precision, and F-measure are significantly improved over the baseline (p<0.05). Overall, our approach offers performance at least as good as human annotators and greatly increased performance over general-purpose tools. The system uses a number of open-source components that are available to download. PMID:22449720

  6. Clinical Features of Fitz-Hugh-Curtis Syndrome in the Emergency Department

    PubMed Central

    You, Je Sung; Kim, Min Joung; Chung, Hyun Soo; Chung, Yong Eun; Chung, Sung Phil; Kim, Seungho; Lee, Hahn Shick

    2012-01-01

    Purpose Fitz-Hugh-Curtis Syndrome (FHCS) is a clinical entity characterized by inflammation of the liver capsule associated with genital tract infection. The aim of this study is to provide physicians with clinical suggestions for diagnostic approaches based on a series of patients who were diagnosed with FHCS. Materials and Methods We conducted a retrospective study of patients who were diagnosed with FHCS after presenting to the emergency department (ED). The symptoms, physical examinations, laboratory findings, radiological findings, and progress of the patients were reviewed. Results During the four-year study period, a total of 82 female patients received a final diagnosis of FHCS in the ED. Chlamydia trachomatis was identified as a pathogen in 89% of the patients. Their clinical characteristics and laboratory findings were described. Fifty-two patients (63.4%) were admitted to the hospital. All of the admitted patients improved after treatment combining antibiotic therapy with conservative care. Conclusion FHCS should be considered as a differential diagnosis for female patients of childbearing age with right upper abdominal pain. Timely diagnosis using biphasic computed tomography (CT) with arterial and portal phases may help ensure adequate medical treatment as well as avoid invasive procedures. PMID:22665342

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

    PubMed

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

    2015-06-01

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

  8. Phenomenological features and clinical impact of affective disorders in OCD: A focus on the bipolar disorder and OCD connection

    PubMed Central

    Timpano, Kiara R.; Rubenstein, Liza M.; Murphy, Dennis L.

    2011-01-01

    Background Given the general population prevalence rates of obsessive compulsive disorder (OCD) and the affective disorders, one would expect the co-occurrence of these syndromes to be rare. Yet findings by our group and others have revealed extremely high rates of comorbidity in OCD with both depressive disorders (DD; 50%) and bipolar disorder (BPD; 10%). The current investigation sought to further clarify the role affective disorder comorbidity—particularly that with BPD—may play in the clinical expression of OCD. Method A total of 605 individuals with OCD were evaluated with the Structured Clinical Interview for DSM-IV. The sample included three groups: BPD (bipolar I or II; N=79, 13.1%), DD (major depression or dysthymia; N=388, 64.1%), and NAD (no affective disorder comorbidity; N=138, 22.8%). Group-wise comparisons were conducted on comorbidity patterns, impairment measures, and clinical features of OCD. Results: Analyses revealed a graded severity pattern, with the BPD group as the most severe, followed by the DD group, and lastly the NAD group. Severity was reflected by the total number of Axis I disorders (p<0.01), the number of psychiatric hospitalizations (p<0.001), impairment measures (p’s<.05), and OCD symptoms (p<0.01). Of note, the impairment and OCD symptom severity findings were not attributable to the higher level of non-mood disorder comorbidities in the BPD and DD groups. Conclusion Those individuals with comorbid affective disorders, particularly BPD, represent a clinically severe group compared to those without such comorbidity. Clarifying the phenomenological features of OCD-affective disorder comorbidity has important etiological and treatment implications. PMID:22109969

  9. Early Clinical Features of Dengue Virus Infection in Nicaraguan Children: A Longitudinal Analysis

    PubMed Central

    Biswas, Hope H.; Ortega, Oscar; Gordon, Aubree; Standish, Katherine; Balmaseda, Angel; Kuan, Guillermina; Harris, Eva

    2012-01-01

    Background Tens of millions of dengue cases and approximately 500,000 life-threatening complications occur annually. New tools are needed to distinguish dengue from other febrile illnesses. In addition, the natural history of pediatric dengue early in illness in a community-based setting has not been well-defined. Methods Data from the multi-year, ongoing Pediatric Dengue Cohort Study of approximately 3,800 children aged 2–14 years in Managua, Nicaragua, were used to examine the frequency of clinical signs and symptoms by day of illness and to generate models for the association of signs and symptoms during the early phase of illness and over the entire course of illness with testing dengue-positive. Odds ratios (ORs) and 95% confidence intervals were calculated using generalized estimating equations (GEE) for repeated measures, adjusting for age and gender. Results One-fourth of children who tested dengue-positive did not meet the WHO case definition for suspected dengue. The frequency of signs and symptoms varied by day of illness, dengue status, and disease severity. Multivariable GEE models showed increased odds of testing dengue-positive associated with fever, headache, retro-orbital pain, myalgia, arthralgia, rash, petechiae, positive tourniquet test, vomiting, leukopenia, platelets ?150,000 cells/mL, poor capillary refill, cold extremities and hypotension. Estimated ORs tended to be higher for signs and symptoms over the course of illness compared to the early phase of illness. Conclusions Day-by-day analysis of clinical signs and symptoms together with longitudinal statistical analysis showed significant associations with testing dengue-positive and important differences during the early phase of illness compared to the entire course of illness. These findings stress the importance of considering day of illness when developing prediction algorithms for real-time clinical management. PMID:22413033

  10. Unusual features of Creutzfeldt-Jakob disease followed-up in a memory clinic.

    PubMed

    Jacquin, Agnès; Deramecourt, Vincent; Bakchine, Serge; Maurage, Claude-Alain; Pasquier, Florence

    2014-04-01

    Sporadic Creutzfeldt-Jakob disease (sCJD) generally manifests itself by cognitive or rapidly progressive motor symptoms. An atypical onset or an unusual evolution may delay the diagnosis. Among patients with a confirmed diagnosis of sCJD following a post-mortem neuropathological examination at the Neuropathology Centre of Lille, France, those who had presented with atypical cognitive disorders at onset were included in the study. Four patients were included. The first patient (64-years-old) presented early language disorders, later accompanied by apathy and behavioral disorders. The prolonged course suggested a diagnosis of progressive primary aphasia. The second patient (68-years-old) presented with aphasia, apraxia, and ataxia of the right upper limb with parkinsonian syndrome, suggesting corticobasal degeneration. In the two last patients (58- and 61-years-old), the onset was marked by an anxiety-depression syndrome, falls, visual hallucinations, extra-pyramidal syndrome, and fluctuating cognitive decline. The diagnosis raised was probable Lewy body dementia. The 14.3.3 protein was found in two of the four cases. The clinical elements found may initially suggest focal atrophy or Lewy body dementia. A very rapid clinical deterioration generally suggests sCJD, but in the last case, the evolution was particularly slow. The diagnosis of sCJD must be considered in cases of rapid-onset dementia, even if all of the clinical criteria are not present. The detection of the 14.3.3 protein and multifold increase in total-Tau with normal or slightly increased phosphorylated-Tau in the CSF are additional arguments to reinforce the diagnosis. The post-mortem neuropathological examination is important to confirm the diagnosis. PMID:24477491

  11. [Clinical features of ischemic heart disease and modes of subjective perception of illness].

    PubMed

    Dobrovol'ski?, A V

    2000-01-01

    The sample included 91 inpatients with different clinical forms of ischemic heart disease (IHD) and modes of subjective perception of illness (subjective meaning of illness). Prichard's Reaction to Illness Questionnaire, Hospital Anxiety and Depressive Scale, Rotter's Internal-External Control Scale and Illness Locus of Control Scale (Bevz I.A.,1998) were used on day 14 after admission for qualification of the patient's subjective perception of illness. The following clinical predictors of hypernosognia (inadequately high subjective significance of illness) were revealed: 1) the onset of IHD in midlife (<65 years) with its subsequent fast progression including high incidence of recurrent coronary events and/or congestive heart failure, 2) "typical" and protracted angina pectoris, 3) cardiac arrhythmias accompanying persistent high heart rate (sinus tachycardia, chronic atrial fibrillation, frequent extrasystoles) and defying any self-care, and 4) severe heart failure. On the other hand clinical predictors of hyponosognosia (inadequately low subjective significance of illness) included 1) the onset of IHD in elderly individuals (>65 years) and its subsequent slow progression without recurrent coronary events and/or congestive heart failure, 2) the socalled "anginal syndrome" (lack of angina's coupling with psychical exertion, atypical pain location, inconstant efficiency of nitroglycerin) and silent myocardial ischemia, 3) the paroxysmal cardiac arrhythmias (infrequent extrasystoles, paroxysmal atrial fibrillation, supraventricular tachyarrhythmias) with normal or slow heart rate between the paroxysms and high efficiency of self-care, and 4) mild to moderate heart failure. The findings are discussed in terms of prediction of specific modes of subjective perception of illness and its practical implications for correction of patient's attitude to his/her disease, correction of non-compliance, optimization of therapeutical alliance and use of heart care resources. PMID:10666882

  12. 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

  13. Pancreaticobiliary reflux as a high-risk factor for biliary malignancy: Clinical features and diagnostic advancements

    PubMed Central

    Sugita, Reiji

    2015-01-01

    Pancreaticobiliary junction is composed of complex structure with which biliary duct and pancreatic duct assemble and go out into the ampulla of Vater during duodenum wall surrounding the sphincter of Oddi. Although the sphincter of Oddi functionally prevents the reflux of pancreatic juice, pancreaticobiliary reflux (PBR) occurs when function of the sphincter of Oddi halt. The anatomically abnormal junction is termed pancreaticobiliary maljunction (PBM) and is characterized by pancreatic and bile ducts joining outside of the duodenal wall. PBM is an important anatomical finding because many studies have revealed that biliary malignancies are related due to the carcinogenetic effect of the pancreatic back flow on the biliary mucosa. On the other hand, several studies have been published on the reflux of pancreatic juice into the bile duct without morphological PBM, and the correlation of such cases with biliary diseases, especially biliary malignancies, is drawing considerable attention. Although it has long been possible to diagnose PBM by various imaging modalities, PBR without PBM has remained difficult to assess. Therefore, the pathological features of PBR without PBM have not been yet fully elucidated. Lately, a new method of diagnosing PBR without PBM has appeared, and the features of PBR without PBM should soon be better understood.

  14. Perturbations of the endocannabinoid system in mantle cell lymphoma: correlations to clinical and pathological features

    PubMed Central

    Wasik, Agata M.; Nygren, Lina; Almestrand, Stefan; Zong, Fang; Flygare, Jenny; Wennerholm, Stefanie Baumgartner; Saft, Leonie; Andersson, Patrik; Kimby, Eva; Wahlin, Björn E.; Christensson, Birger; Sander, Birgitta

    2014-01-01

    The cannabinoid receptors are upregulated in many types of cancers, including mantle cell lymphoma (MCL) and have been suggested to constitute novel therapeutic targets. The expression pattern of the key members of the endocannabinoid system was analyzed in a well-characterized MCL patient cohort and correlated to biological features. 107 tumor tissues were analyzed for the mRNA levels of cannabinoid receptors 1 and 2 (CNR1 and CNR2) and the two main enzymes regulating the endocannabinoid anandamide levels in tissue: NAPEPLD and FAAH (participating in synthesis and degradation, respectively). NAPEPLD, CNR1 and CNR2 were overexpressed while FAAH expression was reduced in MCL compared to non-malignant B-cells. Both low CNR1 and high FAAH levels correlated with lymphocytosis (p=0.016 and p=0.022, respectively) and with leukocytosis (p=0.0018 and p=0.047). Weak to moderate CNR1 levels were a feature of SOX11 negative MCL (p=0.006). Both high CNR2 and high FAAH levels correlated to anemia (p=0.0006 and p=0.038, respectively). In conclusion, the relative expression of the anandamide synthesizing and metabolizing enzymes in MCL is heavily perturbed. This finding, together with high expression of cannabinoid receptors, could favor enhanced anandamide signaling and suggest that targeting the endocannabinoid system might be considered as part of lymphoma therapy. PMID:25594062

  15. Ovarian Granulosa Cell Tumor: Clinical Features, Treatment, Outcome, and Prognostic Factors

    PubMed Central

    Khosla, Divya; Dimri, Kislay; Pandey, Awadhesh K.; Mahajan, Rohit; Trehan, Romeeta

    2014-01-01

    Background: Granulosa cell tumors are rare neoplasms characterized by long natural history and favorable prognosis. Aims: The objective of this study was to determine the clinical presentation, treatment, outcome, and prognostic factors for patients of granulosa cell tumors. Materials and Methods: A retrospective analysis of 26 patients of granulosa cell tumor of ovary from 2002 to 2011 was carried out. The records of all patients were analyzed to determine clinical presentation, treatment, survival, and prognostic factors. Results: The median age of the patients was 50 years (range, 17-71 years). Abdominal pain was the most common presenting symptom. The median follow-up was 71.4 months (range, 21.6-149.9 months). The estimated 5 and 10 year overall survival (OS) was 84.6 and 72.5%, respectively. Event-free survival (EFS) was 76.5 and 52.9% at 5 and 10 years, respectively. Advanced stage was significant independent poor prognostic indicator for both OS and EFS. Conclusion: Majority of the patients with granulosa cell tumors of the ovary present in early stage. Surgery is the primary treatment modality for granulosa cell tumors. Advanced stage and presence of residual disease were associated with inferior survival, but only prospective studies can ascertain their definite role. PMID:24741552

  16. Clinical Features of Congenital Adrenal Insufficiency Including Growth Patterns and Significance of ACTH Stimulation Test

    PubMed Central

    Koh, Ji Won; Kim, Gu Hwan; Yoo, Han Wook

    2013-01-01

    Congenital adrenal insufficiency is caused by specific genetic mutations. Early suspicion and definite diagnosis are crucial because the disease can precipitate a life-threatening hypovolemic shock without prompt treatment. This study was designed to understand the clinical manifestations including growth patterns and to find the usefulness of ACTH stimulation test. Sixteen patients with confirmed genotyping were subdivided into three groups according to the genetic study results: congenital adrenal hyperplasia due to 21-hydroxylase deficiency (CAH, n=11), congenital lipoid adrenal hyperplasia (n=3) and X-linked adrenal hypoplasia congenita (n=2). Bone age advancement was prominent in patients with CAH especially after 60 months of chronologic age (n=6, 67%). They were diagnosed in older ages in group with bone age advancement (P<0.05). Comorbid conditions such as obesity, mental retardation, and central precocious puberty were also prominent in this group. In conclusion, this study showed the importance of understanding the clinical symptoms as well as genetic analysis for early diagnosis and management of congenital adrenal insufficiency. ACTH stimulation test played an important role to support the diagnosis and serum 17-hydroxyprogesterone levels were significantly elevated in all of the CAH patients. The test will be important for monitoring growth and puberty during follow up of patients with congenital adrenal insufficiency. PMID:24265530

  17. Clinical features of congenital adrenal insufficiency including growth patterns and significance of ACTH stimulation test.

    PubMed

    Koh, Ji Won; Kim, Gu Hwan; Yoo, Han Wook; Yu, Jeesuk

    2013-11-01

    Congenital adrenal insufficiency is caused by specific genetic mutations. Early suspicion and definite diagnosis are crucial because the disease can precipitate a life-threatening hypovolemic shock without prompt treatment. This study was designed to understand the clinical manifestations including growth patterns and to find the usefulness of ACTH stimulation test. Sixteen patients with confirmed genotyping were subdivided into three groups according to the genetic study results: congenital adrenal hyperplasia due to 21-hydroxylase deficiency (CAH, n=11), congenital lipoid adrenal hyperplasia (n=3) and X-linked adrenal hypoplasia congenita (n=2). Bone age advancement was prominent in patients with CAH especially after 60 months of chronologic age (n=6, 67%). They were diagnosed in older ages in group with bone age advancement (P<0.05). Comorbid conditions such as obesity, mental retardation, and central precocious puberty were also prominent in this group. In conclusion, this study showed the importance of understanding the clinical symptoms as well as genetic analysis for early diagnosis and management of congenital adrenal insufficiency. ACTH stimulation test played an important role to support the diagnosis and serum 17-hydroxyprogesterone levels were significantly elevated in all of the CAH patients. The test will be important for monitoring growth and puberty during follow up of patients with congenital adrenal insufficiency. PMID:24265530

  18. 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

  19. Clinical features of seizures in patients with human immunodeficiency virus infection.

    PubMed

    Kim, Hyun Kyung; Chin, Bum Sik; Shin, Hyoung-Shik

    2015-06-01

    Patients with human immunodeficiency virus (HIV) infection have a higher burden of seizures, but few studies have examined seizures in HIV-infected individuals in Korea. A retrospective study was conducted to determine the epidemiology and clinical characteristics of seizures in patients with HIV infection. Among a total of 1,141 patients, 34 (3%) had seizures or epilepsy; 4 of these individuals had epilepsy before HIV infection, and the others showed new-onset seizures. Most patients exhibited moderate (200 to 500, n = 13) or low (below 200, n = 16) CD4 counts. The most common seizure etiology was progressive multifocal leukoencephalopathy (n = 14), followed by other HIV-associated central nervous system (CNS) complications (n = 6). Imaging studies revealed brain lesions in 21 patients. A total of 9 patients experienced only one seizure during the follow-up period, and 25 patients experienced multiple seizures or status epilepticus (n = 2). Multiple seizures were more common in patients with brain etiologies (P = 0.019) or epileptiform discharges on EEG (P = 0.032). Most seizures were controlled without anticonvulsants (n = 12) or with a single anticonvulsant (n = 12). Among patients with HIV infection, seizures are significantly more prevalent than in the general population. Most seizures, with the exception of status epilepticus, have a benign clinical course and few complications. PMID:26028919

  20. Dolichoectatic arterial compression of the anterior visual pathways: neuro-ophthalmic features and clinical course

    PubMed Central

    Purvin, V; Kawasaki, A; Zeldes, S

    2004-01-01

    Aim: To characterise the clinical findings and natural history of anterior visual pathway compression by dolichoectatic intracranial vessels. Methods: A retrospective case review of patients evaluated in an outpatient neuro-ophthalmology clinic. Results: 10 patients with this condition were identified. Dolichoectatic compression was confirmed by magnetic resonance scanning in all patients. The average age at presentation was 70.6 years and eight of the 10 were female. The carotid artery was involved in seven patients and the basilar in three. Patterns of visual loss varied depending on the site of compression. The most common pattern in patients with optic neuropathy was nasal field loss. In most patients visual loss showed little progression over time. Over an average follow up interval of 2.8 years, progressive visual loss was documented in only three cases. In one of these, neurosurgical intervention was undertaken with subsequent improvement of vision. Conclusions: Visual loss resulting from compression of the visual pathways by dolichoectatic arteries is usually mild and only slowly progressive. Most patients are elderly, with other forms of vascular disease. Conservative management is thus usually appropriate in this disorder. In occasional cases with more rapid progression, surgical intervention may be beneficial. PMID:14707301

  1. Clinical, pathological, and genetic features of dynamin-2-related centronuclear myopathy in China.

    PubMed

    Chen, Ting; Pu, Chuanqiang; Wang, Qian; Liu, Jiexiao; Mao, Yanling; Shi, Qiang

    2015-05-01

    Mutations in the dynamin-2 (DNM2) gene can cause autosomal dominant or sporadic centronuclear myopathy (CNM). We aimed to analyze the clinical, pathological and genetic characteristic of patients with DNM2-related CNM in China. We studied seven patients, all of whom underwent clinical examination, muscle biopsy, electromyography, and genetic tests. DNM2 gene analysis revealed two sporadic patients harboring the p.E368K mutation, two patients from one family carrying p.R369Q, one with p.R369W, one with p.R523G and one with compound heterozygous mutations of p.R522H and p.R718Q. In DNM2-related CNM, ptosis, ophthalmoplegia/paresis, and facial weakness are the frequently observed manifestations. However, among these seven patients, only one had bilateral ptosis; one, external ophthalmoplegia and one, facial weakness. Muscle biopsy showed that the percentage of muscle fibers with centrally located nuclei ranged from 67 to 93 %, all with radial sarcoplasmic strands. To date, five different CNM-related DNM2 mutations have been observed in China. Here, a patient with compound heterozygous DNM2 mutations was reported for the first time. Facial weakness, ptosis and ophthalmoplegia did not appear to be common in Chinese patients. This study on Chinese patients broadens the spectrum of DNM2-related CNM. PMID:25501959

  2. Skin diseases associated with Malassezia species in humans. Clinical features and diagnostic criteria.

    PubMed

    Difonzo, E M; Faggi, E

    2008-06-01

    Malassezia yeasts not only cause the well known pityriasis versicolor and folliculitis, but also play an important role in other skin diseases, including seborrheic dermatitis and atopic dermatitis. The presence of Malassezia yeasts may be confirmed by direct microscopic examination and cultures of skin scrapings. In pityriasis versicolor the direct microscopic examination is the rapidest and surest test for confirming the clinical diagnosis. The preparation will show a cluster of globose budding spores with thick or double wall and short hyphae. For detecting Malassezia in the other diseases the cultures is preferable. Culture is useful both for confirming the clinical diagnosis and for epidemiological investigations. The identification of the Malassezia species is not easy. The microscopic observation of the colony direct towards the identification of Malassezia species, but it is not enough to identify the colonies definitely. Several biochemical tests are necessary for a precise identification, such as catalase reaction, growth on media without lipid sources, ability to utilize hydrophilic emulsifiers as sole lipid source, esculin test, tryptophan test. PMID:18693561

  3. Endophthalmitis caused by Pantoea agglomerans: clinical features, antibiotic sensitivities, and outcomes

    PubMed Central

    Venincasa, Vincent D; Kuriyan, Ajay E; Flynn, Harry W; Sridhar, Jayanth; Miller, Darlene

    2015-01-01

    Purpose To report the clinical findings, antibiotic sensitivities, and visual outcomes associated with endophthalmitis caused by Pantoea agglomerans. Methods A consecutive case series of patients with vitreous culture-positive endophthalmitis caused by P. agglomerans from January 1, 1990 to December 31, 2012 at a large university referral center. Findings from the current study were compared to prior published studies. Results Of the three study patients that were identified, clinical settings included trauma (n=2) and post-cataract surgery (n=1). Presenting visual acuity was hand motion or worse in all three cases. All isolates were sensitive to ceftazidime, gentamicin, imipenem, and fluoroquinolones. All isolates were resistant to ampicillin. Initial treatment strategies were vitreous tap and intravitreal antibiotic injection (n=1) and pars plana vitrectomy with intravitreal antibiotic injection (n=2). At last follow-up, one patient had no light perception vision, while the other two had best-corrected visual acuity of 20/200 and 20/400. Conclusion All Pantoea isolates were sensitive to ceftazidime, gentamicin, imipenem, and fluoroquinolones. All patients in the current study received at least one intravitreal antibiotic to which P. agglomerans was shown to be sensitive in vitro. In spite of this, the visual outcomes were generally poor. PMID:26185411

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

    PubMed

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

    2015-04-01

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

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

    PubMed

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

    2015-08-01

    Aortopathy can be defined as aortic dilation, aneurysm, dissection, and tortuosity. Familial aortopathy may occur secondary to fibrillin-1 (FBN1) mutations in the setting of Marfan syndrome, or may occur as a result of other genetic defects with different, but occasionally overlapping, phenotypes. Because of the phenotypic overlap and genetic heterogeneity of disorders featuring aortopathy, we developed a next generation sequencing (NGS) assay and comparative genomic hybridization (CGH) array to detect mutations in 10 genes that cause thoracic aortic aneurysms (TAAs). Here, we report on the clinical and molecular findings in 175 individuals submitted for aortopathy panel testing at ARUP laboratories. Ten genes associated with heritable aortopathies were targeted using hybridization capture prior to sequencing. NGS results were analyzed, and variants were confirmed using Sanger sequencing. Array CGH was used to detect copy-number variation. Of 175 individuals, 18 had a pathogenic mutation and 32 had a variant of uncertain significance (VUS). Most pathogenic mutations (72%) were identified in FBN1. A novel large SMAD3 duplication and FBN1 deletion were identified. Over half who had TAAs or other aortic involvement tested negative for a mutation, suggesting that additional aortopathy genes exist. We anticipate that the clinical sensitivity of at least 10.3% will rise with VUS reclassification and as additional genes are identified and included in the panel. The aortopathy NGS panel aids in the timely molecular diagnosis of individuals with disorders featuring aortopathy and guides proper treatment. © 2015 Wiley Periodicals, Inc. PMID:25944730

  6. Metastases to the Pancreas: Computed Tomography Imaging Spectrum and Clinical Features: A Retrospective Study of 18 Patients With 36 Metastases.

    PubMed

    Shi, Hong-Yuan; Zhao, Xue-Song; Miao, Fei

    2015-06-01

    The aim of this study is to identify the key computed tomography (CT) imaging findings and clinical characteristics of pancreatic metastases for its differential diagnosis. CT images and clinical features of 18 patients with 36 histopathologically proven pancreatic metastases were retrospectively reviewed. The primary malignancy included non-small cell lung cancer (NSCLC) (n?=?7), gastrointestinal carcinoma (n?=?5), renal cell carcinoma (RCC) (n?=?3), osteosarcoma (n?=?1), cardiac sarcomas (n?=?1), and neuroendocrine ethmoid sinus carcinoma (n?=?1). Pancreatic metastases were metachronous in 12 patients (ranging from 4 to 72 months). Tumor markers were elevated for 8 patients, of which 7 patients had NSCLC and gastrointestinal carcinoma, and 1 patient had osteosarcoma. Metastases from NSCLC and gastrointestinal carcinoma frequently presented as small well-circumscribed lesions, with homogeneous or rim enhancement, and or local pancreatic infiltration instead of focal mass, mimicking local pancreatitis. Neuroendocrine ethmoid sinus carcinoma affecting the pancreas also exhibited local pancreatic infiltration. Metastases from RCC and cardiac sarcomas had typical characteristics of hypervascular lesions. Osteosarcoma metastasizing to pancreas had special manifestation, that is, cystic lesion with thick wall and calcification.Although pancreatic metastases have a broad spectrum of CT appearances, lesions from some types of primary tumors exhibited characteristic imaging features, which, in combination with oncological history, will contribute to correct diagnosis. PMID:26061312

  7. 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

  8. 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

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

    PubMed

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

    2015-09-01

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

  10. Adult-onset Satoyoshi syndrome with prominent laterality of clinical features.

    PubMed

    Ishihara, Masaki; Ogawa, Katsuhiko; Suzuki, Yutaka; Kamei, Satoshi; Ochiai, Toyoko; Sonoo, Masahiro

    2014-01-01

    We herein report the case of a patient with adult-onset Satoyoshi syndrome. Alopecia was detected on the patient's head, left leg and abdomen, with pigmentation on the left thigh and abdomen. Painful muscle spasms were also noted in the abdomen and left upper and lower extremities, and a sensory disturbance was present in the left thigh. A skin biopsy of this field showed lymphocyte infiltration, and the patient was found to be positive for antinuclear antibodies and rheumatoid factor. These clinical findings were atypical, as they were lateralized. This case is the first report of Satoyoshi syndrome associated with a sensory disturbance. The patient's histological findings and positivity for autoantibodies indicated the presence of immunological abnormalities in this case of Satoyoshi syndrome. PMID:25500444

  11. Identification of critical regions for clinical features of distal 10q deletion syndrome.

    PubMed

    Yatsenko, S A; Kruer, M C; Bader, P I; Corzo, D; Schuette, J; Keegan, C E; Nowakowska, B; Peacock, S; Cai, W W; Peiffer, D A; Gunderson, K L; Ou, Z; Chinault, A C; Cheung, S W

    2009-07-01

    Array comparative genomic hybridization studies were performed to further characterize cytogenetic abnormalities found originally by karyotype and fluorescence in situ hybridization in five clinical cases of distal 10q deletions, including several with complex cytogenetic rearrangements and one with a partial male-to-female sex-reversal phenotype. These results have enabled us to narrow the previously proposed critical regions for the craniofacial, urogenital, and neuropsychiatric disease-related manifestations associated with distal 10q deletion syndrome. Furthermore, we propose that haploinsufficiency of the DOCK1 gene may play a crucial role in the pathogenesis of the 10q deletion syndrome. We hypothesize that alteration of DOCK1 and/or other genes involved in regulation and signaling of multiple pathways can explain the wide range of phenotypic variability between patients with similar or identical cytogenetic abnormalities. PMID:19558528

  12. [IgA nephropathy in Chinese and Australian patients: a comparison between clinical and pathological features].

    PubMed

    Li, L; Tao, K; Nicholls, K; Kincaid-Smith, P

    1991-03-01

    The clinical and pathological data were compared between 88 Chinese and 88 Australian patients with IgA nephropathy, whose age, sex and course of disease identified by renal biopsy were matched. Statistical differences showed: More Chinese patients had edema and loin pain, while more Australian patients had hypertension, glomerular sclerosis and arterial and/or arteriolar abnormalities; impairment of renal function correlated with crescent body formation and loin pain with severe hematuria were only found in Chinese patients, While correlations between severe hematuria and histological changes, hypertension and glomerular sclerosis, impaired renal function and glomerular sclerosis were only seen in Australian patients. Differences between the two groups in symptoms, histological changes and clinico-pathological correlations suggest that IgA nephropathy is a heterogeneous disease, it may result from more than one factor. PMID:1648429

  13. Clinical features of spongy degeneration of the central nervous system in two Labrador retriever littermates.

    PubMed

    O'Brien, D P; Zachary, J F

    1985-06-01

    Spongy degeneration of the CNS was diagnosed in 2 female Labrador Retriever littermates. The dogs had histories of progressive cerebellar ataxia and episodes of extreme extensor rigidity beginning at 4 and 6 months of age. One had a history of hearing difficulties. When examined at 9 months of age, both dogs had moderate ataxia and dysmetria of the head, trunk, and limbs, hyperreflexia with clonus, and extensor rigidity with episodes of exaggerated rigidity and opisthotonos. One dog was euthanatized and the other was monitored for 2 months, during which time her signs progressed to severe dysmetria, weakness, muscle atrophy, and rigidity with marked hyperreflexia. Necropsy of both dogs revealed astrocytic abnormalities and spongy degeneration of the white matter of the CNS. The clinical signs and postmortem findings were similar to the juvenile form of spongy degeneration in man. PMID:4008303

  14. Clinical and diagnostic features of small fiber damage in diabetic polyneuropathy.

    PubMed

    Javed, S; Petropoulos, I N; Tavakoli, M; Malik, R A

    2014-01-01

    Small fiber neuropathy represents a significant component of diabetic sensorimotor polyneuropathy (DSPN) which has to date been ignored in most recommendations for the diagnosis of DSPN. Small fibers predominate in the peripheral nerve, serve crucial and highly clinically relevant functions such as pain, and regulate microvascular blood flow, mediating the mechanisms underlying foot ulceration. An increasing number of diagnostic tests have been developed to quantify small fiber damage. Because small fiber damage precedes large fiber damage, diagnostic tests for DSPN show good sensitivity but moderate specificity, because the gold standard which is used to define DSPN is large fiber-weighted. Hence new diagnostic algorithms for DSPN should acknowledge this emerging data and incorporate small fiber evaluation as a key measure in the diagnosis of DSPN, especially early neuropathy. PMID:25410229

  15. 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.

  16. Unusual clinical and MRI features of a cerebellopontine angle medulloepithelioma. Case report and review of literature.

    PubMed

    Syal, Rajan; Reddy S, Jaypal; Kumar, Raj; Tyagi, Isha; Abrar, A A Wani; Krishnani, Narender; Mishra, Asht M; Gupta, Rakesh K

    2006-01-01

    We describe for the first time an unusual location and clinical presentation of medulloepithelioma, a rare embryonal tumor. A 5-year-old child presented with sudden onset of bilateral hearing loss. On imaging, the lesion appeared to be extra axial and was located in the right cerebello-pontine (CP) angle, extending into middle fossa along the trigeminal ganglion and in front of the brain stem into the opposite CP angle. It did not show any enhancement following contrast administration and had restricted diffusion on diffusion-weighted imaging, simulating an epidermoid. However, in vivo localized proton MR spectroscopy revealed a creatine peak dominated by a large choline resonance, peak of glycine with lactate/lipid and invisible N-acetylaspartate suggestive of a neoplastic lesion and not an epidermoid. Only subtotal resection could be performed and the patient had a stormy post-operative course due to extensive dissemination of the disease. PMID:16902342

  17. Clinical features of biochemical cholestasis in patients with recurrent hepatitis C after living-donor liver transplantation.

    PubMed

    Ueda, Y; Takada, Y; Marusawa, H; Haga, H; Sato, T; Tanaka, Y; Egawa, H; Uemoto, S; Chiba, T

    2010-07-01

    Recurrent hepatitis C after liver transplantation (HepC-LT) progresses faster than hepatitis C in non-transplant settings. Cholestasis has been suggested to be one characteristic of HepC-LT related to the rapid progression. We investigated the clinical features of biochemical cholestasis, which we defined as high serum concentrations of alkaline phosphatase and gamma-glutamyl transpeptidase, in patients with recurrent hepatitis C after living-donor liver transplantation. Eighty patients were diagnosed with post-transplant recurrent hepatitis C after exclusion of other aetiologies of cholestasis by liver biopsy and imaging. The clinical features of biochemical cholestasis in the patients with HepC-LT, including histological changes, the efficacy of interferon therapy and helper T-cell (Th) subsets in the peripheral blood, were analysed. Fifty-five of the 80 patients with HepC-LT (69%) had evidence of biochemical cholestasis. Progression of liver fibrosis to stage F3 or F4 was significantly accelerated in patients with biochemical cholestasis compared with patients without cholestasis. The biochemical cholestasis in patients with HepC-LT improved after interferon therapy in 22 of 39 patients (56%) who showed a virological response to the therapy, suggesting that hepatitis C virus (HCV) caused the biochemical cholestasis in these patients. Patients with biochemical cholestasis who had a biochemical response to interferon therapy showed an increased Th1 responses in peripheral blood. In conclusion, biochemical cholestasis is the characteristic feature of HepC-LT and is related to progression of liver fibrosis. An increased Th1 response is associated with cholestasis caused by HCV after liver transplantation. PMID:19804502

  18. [Pharmacological and pharmacokinetic features and clinical effects of pitavastatin (Livalo Tablet)].

    PubMed

    Yamazaki, Hiroyuki; Fujino, Hideki; Kanazawa, Mizuho; Tamaki, Taro; Sato, Fumiyasu; Suzuki, Mikio; Kitahara, Masaki

    2004-05-01

    Today 3-hydroxy-3-methylglutaryl-coenzyme A (HMG-CoA) reductase inhibitors (statins) are the most often prescribed drugs among the therapeutics for hypercholesterolemia. Pitavastatin is a novel statin that has been developed entirely in Japan from the biological screening to clinical studies persuing more efficatious statin than hitherto known. Preclinical studies on drug metabolism revealed that pitavastatin is distributed selectively to the liver, excreted into bile without metabolic modification, and efficiently re-circulates to the liver to show a prolonged plasma half-life. In guinea pigs, pitavastatin enhanced hepatic LDL receptor activity and reduced VLDL secretion in a liver perfusion study, and it lowered plasma total cholesterol (TC) levels at 0.3 mg/kg and triglyceride (TG) levels at 1 mg/kg, respectively, and more. From these results, pitavastatin is assumed to lower LDL cholesterol (LDL-C) by promoting LDL receptor expression and further potentiate the cholesterol-lowering effect and exert TG-lowering effect by reducing VLDL secretion. (14)C-Pitavastatin is metabolized with CYP2C9 to 8-hydroxy derivative, but its Vmax /Km was about 2 micro l/min/mg, about 1/8 to 1/100 in comparison to the reported values of other statins, indicating that pitavastatin is hardly metabolized. Also, other human P450 species were not inhibited by pitavastatin. Therefore, pitavastatin is considered to have little interaction with drugs through P450. In the summarized clinical results with 862 patients, pitavastatin lowered TC and LDL-C by 28% and 40%, respectively. There was no difference in the frequency of side effects and no serious adverse effect was observed for pitavastatin. Pitavastatin possesses superior plasma lipid-improving effects, induces little drug interaction, and is expected to make a good contribution to the medication of hypercholesterolemia. PMID:15118259

  19. Treatment of IgA nephropathy based on the severity of clinical and histological features.

    PubMed

    Kalliakmani, Pantelitsa; Komninakis, Dimitrios; Gerolymos, Miltiadis; Papasotiriou, Marios; Savvidaki, Eirini; Goumenos, Dimitrios S

    2015-01-01

    Immunoglobulin A (IgA) nephropathy (IgAN) represents a common glomerular disease treated by various therapeutic regimens. We studied 50 IgAN patients to determine the effect of different regimens selected according to severity of the disease on the clinical outcome of patients over a follow-up period of five years. Patients with normal renal function and proteinuria <1 g/24-h received no treatment (Group A, n = 6). Th?se with normal renal function, proteinuria >1 g/24-h and mild to moderate histological lesions received angiotensin-converting enzyme inhibitors (ACEi) and corticosteroids (Group B, n = 23). Patients with baseline serum creatinine (Scr) <2.5 mg/dL, proteinuria >3.5 g/24-h and severe histological lesions received ACEi, corticosteroids and other immunosuppressive drugs (Group C, n = 18). Finally, patients with Scr >2.5 mg/dL, glomerulosclerosis and tubulointerstitial fibrosis received ACEi and fish oil (Group D, n = 3). Doubling of baseline Scr was observed in nine (18%) patients; two (8.7%) patients from Group B, five (27.7%) patients from Group C and two (66.7%) patients from Group D. Of the seven (14%) patients who reached end-stage renal disease, one (4.3%) patient was from Group B, four (21.0%) patients were from Group C and two (66.7%) patients were from Group D. Reduction of proteinuria was observed in all (100%) patients from Group B and in 15 (83.3%) patients from Group C. Adverse reactions occurred in three of 18 (16%) patients treated with immunosuppressive drugs. The choice of therapeutic regimen used in the treatment of patients with IgAN could be based on the severity of clinical and histological involvement in order to achieve the maximum effect with the least of adverse reactions. PMID:26022022

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

    PubMed

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

    2015-07-15

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

  1. Correlation of ghrelin and growth hormone secretagogue receptor expression with clinical features in human pituitary adenomas

    PubMed Central

    WANG, JUNWEN; GUO, SONGBO; HAN, LIN; FANG, MINGBO; WANG, LEI; BARTSCH, JÖRG W.; LI, JUN

    2015-01-01

    Ghrelin, as a brain-gut peptide, has growth hormone (GH)-releasing and appetite-inducing activities and a widespread tissue distribution. Furthermore, ghrelin is an endogenous ligand of the GH secretagogue receptor (GHSR), and both ghrelin and GHSR are expressed in the pituitary; however, the data regarding the expression of ghrelin and GHSR in pituitary adenomas are divergent and conflicting. In the present study, therefore, the expression of ghrelin and GHSR was examined in the full spectrum of human pituitary adenoma subtypes (n=34) and in normal pituitary tissue (n=3). The mRNA and protein expression levels were quantified using a competitive reverse transcription-polymerase chain reaction and western blotting and the correlation of the results with the clinical parameters was assessed. mRNA and protein expression of ghrelin and GHSR was detected in all samples with the highest mean level in GH adenomas, a moderate level in clinically non-functioning adenomas and the lowest level in adrenocorticotropin adenomas. A significant correlation between the ghrelin and GHSR mRNA expression levels was observed in the GH adenomas (n=12) (r=0.8435, P=0.0006). The ghrelin mRNA expression level in the GH adenomas correlated positively with the basic serum GH level (n=12) (r=0.6488, P=0.0225). Furthermore, the mean level of ghrelin mRNA expression was significantly higher in invasive adenomas than in noninvasive adenomas (P<0.01). Collectively, the results of the study provided evidence that ghrelin and GHSR are expressed in the various subtypes of pituitary adenoma, with specific overexpression in GH adenomas. The study suggests that the binding of ghrelin to GHSR promotes the secretion of GH and plays an important role in the development of GH adenomas via autocrine and/or paracrine effects.

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

    PubMed

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

    2015-06-01

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

  3. 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

  4. Clinical features of severe cases of hand, foot and mouth disease with EV71 virus infection in China

    PubMed Central

    Wang, Qi; Zhang, Ying; Yan, Lei; Zhang, Jing; Sun, Junling; Chang, Zhaorui; Wang, Zijun

    2014-01-01

    Introduction Hand, foot and mouth disease (HFMD) caused by EV71 infection has become one of the major public health issues in China, which deeply affects children's health. The prevention and control of EV71 is a challenge currently because there is no safe and effective vaccine or antiviral medications available. Material and methods A case control study was conducted in a designated hospital to compare severe and mild cases of patients infected with the EV71 virus. Demographic information along with clinical features of HFMD was collected through a standardized questionnaire. Multi-factorial logistic regression was used to analyze independent associations between potential risk factors and severe HFMD. Results There were 120 cases (60 cases and 60 controls) collected. The male-to-female ratio was 1.3: 1 in the case group and 1.7: 1 in the control group. Multi-factorial logistic regression revealed that the main risk factors for severe cases were highest body temperature being ? 38.5°C (OR = 9.45, 95% CI: 2.07–43.11, p < 0.05), first visited a village level clinic (OR = 4.72, 95% CI: 1.15–19.45, p < 0.05), etc. Conclusions Close surveillance combined with laboratory testing should be in place during the epidemic period of HFMD. Grass root level medical facilities and training of clinical and laboratory staff should be reinforced so that the diagnostic and treatment capacity can be improved. PMID:25097582

  5. Clinical features and therapeutic management of patients admitted to Italian acute hospital psychiatric units: the PERSEO (psychiatric emergency study and epidemiology) survey

    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: The PERSEO study (psychiatric emergency study and epidemiology) is a naturalistic, observational clinical survey in Italian acute hospital psychiatric units, called SPDCs (Servizio Psichiatrico Diagnosi e Cura; in English, the psychiatric service for diagnosis and management). The aims of this paper are: (i) to describe the epidemiological and clinical characteristics of patients, including sociodemographic features, risk factors, life habits

  6. Clinical and epidemiological features of Guillain-Barré syndrome in the Western Balkans.

    PubMed

    Peric, Stojan; Milosevic, Vuk; Berisavac, Ivana; Stojiljkovic, Olivera; Beslac-Bumbasirevic, Ljiljana; Marjanovic, Ivan; Djuric, Vanja; Djordjevic, Gordana; Rajic, Sonja; Cvijanovic, Milan; Babic, Milica; Dominovic, Aleksandra; Vujovic, Balsa; Cukic, Mirjana; Petrovic, Milutin; Toncev, Gordana; Komatina, Nenad; Martic, Vesna; Lavrnic, Dragana

    2014-12-01

    The aim of this study was to define features of Guillain-Barré syndrome in a large cohort of patients from three Western Balkans countries. Data from adult Guillain-Barré syndrome (GBS) cases from 2009 to 2013 were retrospectively obtained from all tertiary health care centers. During the 5-year period, 327 new cases of GBS were identified with a male to female ratio of 1.7?:?1. The most common GBS variants were demyelinating (65%) and axonal (12%). At nadir 45% of patients were chair-bound, confined to bed, or required assisted ventilation, while 5% died. The crude incidence of GBS in Serbia and Montenegro was 0.93 per 100,000 population, and age-adjusted incidence according to the world standard population was 0.86 per 100,000. Incidence was particularly high in 50- to 80-year-old men. Statistically significant seasonal variations of GBS were not observed. This study of patients with GBS in the Western Balkans allows us to prepare the health system better and to improve the management of patients. This study also opens opportunities for international collaboration and for taking part in the multinational studies on GBS. PMID:25582576

  7. Ebola outbreak in rural West Africa: epidemiology, clinical features and outcomes

    PubMed Central

    Dallatomasina, Silvia; Crestani, Rosa; Sylvester Squire, James; Declerk, Hilde; Caleo, Grazia Marta; Wolz, Anja; Stinson, Kathryn; Patten, Gabriela; Brechard, Raphael; Gbabai, Osman Bamba-Moi; Spreicher, Armand; Van Herp, Michel; Zachariah, Rony

    2015-01-01

    Objective To describe Ebola cases in the district Ebola management centre of in Kailahun, a remote rural district of Sierra Leone, in terms of geographic origin, patient and hospitalisation characteristics, treatment outcomes and time from symptom onset to admission. Methods Data of all Ebola cases from June 23rd to October 5th 2014 were reviewed. Ebola was confirmed by reverse-transcriptase-polymerase-chain-reaction assay. Results Of 489 confirmed cases (51% male, median age 28 years), 166 (34%) originated outside Kailahun district. Twenty-eight (6%) were health workers: 2 doctors, 11 nurses, 2 laboratory technicians, 7 community health workers and 6 other cadres. More than 50% of patients had fever, headache, abdominal pain, diarrhoea/vomiting. An unusual feature was cough in 40%. Unexplained bleeding was reported in 5%. Outcomes for the 489 confirmed cases were 227 (47%) discharges, 259 (53%) deaths and 3 transfers. Case fatality in health workers (68%) was higher than other occupations (52%, P = 0.05). The median community infectivity time was 6.5 days for both general population and health workers (P = 0.4). Conclusions One in three admitted cases originated outside Kailahun district due to limited national access to Ebola management centres – complicating contact tracing, safe burial and disinfection measures. The comparatively high case fatality among health workers requires attention. The community infectivity time needs to be reduced to prevent continued transmission. PMID:25565430

  8. Epitrochlear lymph nodes: Anatomy, clinical aspects, and sonography features. Pictorial essay().

    PubMed

    Catalano, O; Nunziata, A; Saturnino, P P; Siani, A

    2010-12-01

    The normal and abnormal aspects of the epitrochlear lymphatic station are not well known, mainly because the axillary basin is commonly regarded as the primary lymphatic target of all upper limb disorders. The purpose of this paper is to illustrate, through a review of specific cases, the normal and abnormal findings that can emerge during ultrasonographic (US) and color-Doppler US exploration of the epitrochlear region. We illustrate the normal anatomy and variations of the epitrochlear lymph nodes and highlight the functional role of this lymphatic station. Subsequently we describe the US and color-Doppler US findings. A number of different abnormalities are reviewed, including metastases (mainly from upper limb cutaneous melanomas), Hodgkin disease, and non-Hodgkin lymphoma, lymphadenitis (cat-scratch disease, foreign bodies, and IV drug abuse). Measures are suggested to avoid interpretative pitfalls and to carry out an effective differential diagnosis of elbow masses. This article represents a pictorial essay of the US and color-Doppler US features of various epitrochlear lymph node abnormalities that clinicians may not be familiar with. PMID:23397026

  9. Epitrochlear lymph nodes: Anatomy, clinical aspects, and sonography features. Pictorial essay?

    PubMed Central

    Catalano, O.; Nunziata, A.; Saturnino, P.P.; Siani, A.

    2010-01-01

    The normal and abnormal aspects of the epitrochlear lymphatic station are not well known, mainly because the axillary basin is commonly regarded as the primary lymphatic target of all upper limb disorders. The purpose of this paper is to illustrate, through a review of specific cases, the normal and abnormal findings that can emerge during ultrasonographic (US) and color-Doppler US exploration of the epitrochlear region. We illustrate the normal anatomy and variations of the epitrochlear lymph nodes and highlight the functional role of this lymphatic station. Subsequently we describe the US and color-Doppler US findings. A number of different abnormalities are reviewed, including metastases (mainly from upper limb cutaneous melanomas), Hodgkin disease, and non-Hodgkin lymphoma, lymphadenitis (cat-scratch disease, foreign bodies, and IV drug abuse). Measures are suggested to avoid interpretative pitfalls and to carry out an effective differential diagnosis of elbow masses. This article represents a pictorial essay of the US and color-Doppler US features of various epitrochlear lymph node abnormalities that clinicians may not be familiar with. PMID:23397026

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

    PubMed

    Cozzani, Emanuele; Drosera, Massimo; Gasparini, Giulia; Parodi, Aurora

    2014-01-01

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

  11. Melanoma of the oral cavity: pathogenesis, dermoscopy, clinical features, staging and management.

    PubMed

    Warszawik-Hendzel, Olga; S?owi?ska, Monika; Olszewska, Ma?gorzata; Rudnicka, Lidia

    2014-09-30

    Primary mucosal melanoma of the oral cavity is an exceedingly rare neoplasm which is estimated to comprise 1-2% of all oral malignancies. In contrast to cutaneous melanomas, the risk factors and pathogenesis are poorly understood. The predominate localization of primary oral melanoma is hard palate and maxillary alveolus. Dermoscopy may be utilized as an adjunctive tool in the clinical differential diagnosis of oral mucosal melanoma whenever the lesion is accessible with a dermoscope. Surgery is the mainstay of treatment, but it may be challenging depending on the location of the tumor within the oral cavity and its size. Adjuvant therapy with dacarbazine, platinum analogs, nitrosoureas and interleukin-2 have been utilized with low response rates. Imatinib may be effective for patients with with c-Kit gene mutations. Sunitinib and dasatinib have been reported effective in selected cases. Vemurafenib and dabrafenib are targeted agents for patients with BRAF mutation-positive melanoma. Ipilimumab, an anti-cytotoxic T-lymphocyte antigen 4 antibody and pembrolizumab, a monoclonal antibody targeting programmed death 1 receptor may be a feasible treatment option in patients with metastatic mucosal melanoma. PMID:25324906

  12. Clinical and echocardiographic features of children with rheumatic heart disease and their serum cytokine profile

    PubMed Central

    Ali, Sulafa Khalid Mohamed; Eldaim, Inaam Noor; Osman, Samia Hassan; Bakhite, Sahar Mohamed

    2012-01-01

    Acute rheumatic fever (ARF) and rheumatic heart disease (RHD) constitute important public health problems in developing countries. Children with ARF and RHD seen at Children’s Hospital-Sudan from May 2008-2009 were examined clinically and by echocardiography. Blood cytokines (interleukin 10 (IL10), Tumor necrosis factor alpha (TNF- alpha) and interferon gamma (IFN-gamma) were done. Thirty six children were enrolled; 63% had established RHD, and 37% ARF. Mitral regurgitation (MR) was the most common lesion (94%).Ninety five percent of the valve lesions were severe. The serum interleukin IL10 level ranged between 3-6 pg/ml. TNF alpha levels were 9- 100 pg/ml in 12 patients (40%), 101-1000 pg/ml in 10 patients (33%), more than 1000 in 8 patients (26%). The level of IFN gamma ranged between 2-7 pg/m in all patients except 2 (84 and 135 pg/ml). RHD is manifested with severe valvular lesions and a high TNF alpha indicating and ongoing inflammation. PMID:23330027

  13. Association of Lung Function, Chest Radiographs and Clinical Features in Infants with Cystic Fibrosis

    PubMed Central

    Rosenfeld, Margaret; Farrell, Philip M.; Kloster, Margaret; Swanson, Jonathan O.; Vu, Thuy; Brumback, Lyndia; Acton, James D.; Castile, Robert G.; Colin, Andrew A.; Conrad, Carol K.; Hart, Meeghan A.; Kerby, Gwendolyn S.; Hiatt, Peter W.; Mogayzel, Peter J.; Johnson, Robin C.; Davis, Stephanie D.

    2013-01-01

    Background The optimal strategy for monitoring cystic fibrosis (CF) lung disease in infancy remains unclear. Objective To describe longitudinal associations between infant pulmonary function tests (iPFTs), chest radiograph (CXR) scores and other characteristics. Methods CF patients ? 24 months old were enrolled in a 10-center study evaluating iPFTs 4 times over a year. CXRs ~1 year apart were scored with the Wisconsin and Brasfield systems. Associations of iPFT parameters with clinical characteristics were evaluated with mixed effects models. Results The 100 participants contributed 246 acceptable flow/volume (FEV0.5, FEF75) and 303 acceptable functional residual capacity (FRC) measurements and 171 CXRs. Both Brasfield and Wisconsin CXR scores worsened significantly over the 1 year interval. Worse Wisconsin CXR scores and S. aureus were both associated with hyperinflation (significantly increased FRC) but not with diminished FEV0.5 or FEF75. Parent-reported cough was associated with significantly diminished FEF75 but not with hyperinflation. Conclusions In this infant cohort in whom we previously reported worsening in average lung function, CXR scores also worsened over a year. The significant associations detected between both Wisconsin CXR score and S. aureus and hyperinflation, as well as between cough and diminished flows, reinforce the ability of iPFTs and CXRs to detect early CF lung disease. PMID:23722613

  14. Clinical features of multiple conception with partial or complete molar pregnancy and coexisting fetuses.

    PubMed

    Steller, M A; Genest, D R; Bernstein, M R; Lage, J M; Goldstein, D P; Berkowitz, R S

    1994-03-01

    The estimated incidence of twin pregnancy consisting of hydatidiform mole and a coexisting fetus is 1 per 22,000-100,000 pregnancies. Since 1965, nine patients with this entity have been treated at the New England Trophoblastic Disease Center (NETDC), Boston. One patient had a partial hydatidiform mole coexisting with a normal placenta and fetus. The other eight patients had twin pregnancies with a complete hydatidiform mole (CHM) and coexisting fetus. We compared the clinical outcomes in these 8 patients and 14 additional published case reports of multiple gestations composed of CHM and coexisting fetuses with a group of 71 patients with singleton CHM treated at NETDC. Twelve of the 22 patients (55%) with CHM and coexisting fetuses developed persistent gestational trophoblastic tumor, requiring chemotherapy. Five of these patients developed metastases requiring multiple cycles of chemotherapy to achieve remission. The presenting symptoms of multiple conception with CHM and coexisting fetuses were similar to those in patients with a singleton conception and complete mole. However, as compared to singleton CHM, patients having a multiple conception with CHM and coexisting fetuses were diagnosed at a later gestational age, had higher preevacuation beta-human chorionic gonadotropin levels and had a greater propensity to develop persistent tumor. These data indicate that patients with multiple conceptions consisting of CHM and coexisting fetuses are at high risk of developing persistent gestational trophoblastic tumor. PMID:8035369

  15. Clinical Features and Etiology of Adult Patients with Fever and Rash

    PubMed Central

    Tabak, Fehmi; Murtezaoglu, Aysan; Tabak, Omur; Mete, Bilgul; Kutlubay, Zekayi; Mert, Ali; Ozturk, Recep

    2012-01-01

    Background Patients with fever and rash often pose an urgent diagnostic and therapeutic dilemma for the clinician. The nonspecificity of many fever and rash syndromes mandates a systemic approach to diagnosis. Objective We aimed to determine the etiology of fever and rash in 100 adult patients followed-up as in- or outpatients prospectively. Methods All the patients, who presented with rash and fever, were followed-up prospectively and their clinical and laboratory studies were evaluated. Results The median age was 35 years (14~79 years); 45 were female and 55 were male. Patients were divided into 3 groups according to the etiology: infectious (50%), noninfectious (40%) and undiagnosed (10%). The most common type of rash was maculopapular, and the most common 5 causes were measles, cutaneous drug reactions, varicella, adult-onset Still's disease (ASD) and rickettsial disease. Viral diseases among infectious causes and cutaneous drug reactions, among the noninfectious causes, were determined as the main diseases. The mortality rate was 5% and the reasons of mortality were as follows: toxic epidermal necrolysis (2 patients), ASD (1), staphylococcal toxic shock syndrome (1) and graft-versus-host disease (1). Conclusion Adult patients with fever and rash had a wide differential diagnosis. The most common type of rash was determined as maculopapular, and the most frequent five diseases were measles, drug reactions, chickenpox, ASD and rickettsial infection. Viral diseases among infectious causes and drug reactions among noninfectious causes were determined as the leading etiologies. PMID:23197907

  16. Clinical features and treatment experience: a review of 292 Chinese cobra snakebites.

    PubMed

    Wang, Wei; Chen, Quan-Fang; Yin, Rui-Xing; Zhu, Ji-Jin; Li, Qi-Bin; Chang, Hai-Hua; Wu, Yan-Bi; Michelson, Edward

    2014-03-01

    Although Chinese cobra snakebite is the most common type of snake venenation in China, it still lacks a comprehensive and systematic description. Hence, we aimed to study Chinese cobra bite cases with particular attention to demography, epidemiology and clinical profile. In this study, a total of 292 cases of Chinese cobra snakebite, presenting between January 1, 2008 and December 31, 2012, were retrospectively reviewed. To investigate the effect of treatment at different presentation times (time from snakebite to admission), the patients were divided into two groups: group A included 133 cases that presented <12 h after the bite; group B included 159 cases that presented ?12 h after the bite. To assess the correlation between application of a tourniquet and skin grafting, the cases were re-divided into two groups according to whether or not a tourniquet was used after the snakebite: tourniquet group (n=220) and non-tourniquet group (n=72). The results showed that Chinese cobra snakebites were most commonly seen during the summer, in the upper limbs, and in males, young adults, and snake-hunters. Group A experienced milder intoxication than group B (P<0.001). The rate of skin grafting was significantly higher in the tourniquet group (20.0%, compared with 9.7% in the non-tourniquet group, P<0.05). The results of this study indicate that anti-cobra venom and swift admission (within 12 h of the snakebite) are recommended for Chinese cobra snakebite. Tourniquet use is not recommended. PMID:24577231

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

    PubMed

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

    2015-05-01

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

  18. Clinical spectrum and radiographic features of the syndrome of the trephined

    PubMed Central

    Sedney, Cara L.; Dillen, William; Julien, Terrence

    2015-01-01

    Object: Craniectomy is a common neurosurgical procedure. Syndrome of the trephined (ST) occurring after craniectomy results in neurologic symptoms that are reversible with cranioplasty. While well-documented, previous literature consisted of case reports, symptom spectrum and risk factors have not been well characterized. Materials and Methods: A retrospective review of 29 consecutive cases who underwent decompressive craniectomy within a 30-month period was performed. Patients were considered affected by ST if a previously stable neurological deficit improved within 3 weeks after cranioplasty. Prevalence of ST was measured and association with demographic information, clinical symptoms patterns, indication for and size of craniectomy, as well as radiological signs were tested. Results: Seven patients (24%) developed ST. Chronic rehabilitation arrest was more common than acute neurologic decline. Factors such as craniectomy size and patient age did not reach statistical significance in development of ST. Radiographic factors were predictive, with a sunken skin flap contour being most sensitive, while ventricular effacement was most specific. Conclusion: ST may have a higher incidence than previously thought, with a chronic rehabilitation arrest being a more common presentation than an acute decline. Medical providers involved in the post surgical care and rehabilitation of these patients should maintain a high index of suspicion for ST.

  19. Clinical and electrophysiological features of Guillain-Barré syndrome in Iran.

    PubMed

    Yadegari, Samira; Kazemi, Neda; Nafissi, Shahriar

    2014-09-01

    We evaluated the clinical and electrophysiological characteristics of 121 consecutive patients admitted with Guillain-Barré syndrome (GBS) to a tertiary referral hospital in Tehran, Iran, from 1997 to 2007. The mean age of patients was 38.9 (standard deviation 19.7) years. The predominant subtype of GBS was the demyelinating form. Miller Fisher syndrome was present in 3.3% of patients. There was no significant seasonal clustering among the three subtypes, but axonal variants tend to occur in summer. In contrast with other subtypes, the majority of patients with acute motor-sensory axonal neuropathy (AMSAN) were female (72.3%). AMSAN patients also had significantly longer hospitalization time (p=0.002) and intensive care unit (ICU) admission (p=0.017), while none of the acute motor axonal neuropathy patients needed ICU admission. Involvement of cranial nerves and symmetry of signs were significantly detected in the demyelinating variant (p=0.021 and p=0.040, respectively). The overall mortality was 3.3%. PMID:24786718

  20. The exanthem of dengue fever: Clinical features of two US tourists traveling abroad

    PubMed Central

    Pincus, Laura B.; Grossman, Marc E.; Fox, Lindy P.

    2014-01-01

    Background Dengue fever is the most common identifiable cause of acute febrile illness among travelers returning from South America, South Central Asia, Southeast Asia, and the Caribbean. Although the characteristic exanthem of dengue fever occurs in up to 50% of patients, few descriptions of it are found in the dermatology literature, and discussions of how to distinguish the dengue exanthem from other infectious disease entities are rare. Chikungunya fever is an emerging infectious disease now seen in returning US tourists and should be considered in the differential diagnosis of dengue fever in the appropriate patient. Objective The purpose of our study was to report two cases of dengue fever among returning US tourists, provide a review of dengue fever, offer an extensive differential diagnosis of dengue fever, and raise awareness among dermatologists of chikungunya fever. Methods This study includes clinical findings of two returning travelers, one who traveled to Mexico and the other to Thailand, complemented by a discussion of both dengue fever and its differential diagnosis. Limitations Limited to 2 case reports. Conclusion Dengue fever should be considered in the differential diagnosis of fever and rash in the returning traveler. Dermatologists should be aware of the distinctive exanthem of dengue fever. Recognition of the dengue fever rash permits a rapid and early diagnosis, which is critical, as dengue fever can progress to life-threatening dengue hemorrhagic fever or dengue shock syndrome. PMID:17959270

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

    PubMed Central

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

    2014-01-01

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

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

    PubMed Central

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

    2015-01-01

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

  3. [Clinical-diagnostic features of the acute period of brain concussion in military personnel].

    PubMed

    Tkachov, A V

    2008-01-01

    The comparative analysis of a complex examination of 78 patients aged 16-45 years in acute period of closed craniocereberal trauma (CCRCT) has been carried out. Physical examination was done on the first 10th and 30th day of the treatment. The author used specially developed multiple-aspect scales and questionnaires for objectification of patient complaints, magnetic resonance tomography, brain electroencephalography. A complex clinical and neuropsychological examination revealed that all cases of brain concussion were accompanied by various signs of asthenic disorders and in 81% of cases--by cognitive disorders. Patients in the acute period of brain concussion had significantly low indicators of cerebral neurodynamics in comparison with healthy individuals. It was shown by increase in signs of irritation, changes of bioelectric activity of the brain that was expressed by considerable blurriness of regional disjunctions and fading of an alpha rhythm. Specific changes of brain tissue in acute period of brain concussion were not registered when CT or MRT were used. PMID:19253744

  4. [Clinical features of acute obstructive suppurative cholangitis (AOSC) in the old age].

    PubMed

    Kantoh, T; Tomotsu, K; Abo, H; Usui, T

    1992-03-01

    Nineteen cases (male 6, female 13) of acute obstructive suppurative cholangitis (AOSC) were divided into 2 groups and were studied, Group A; over 70 yrs old (12), Group B; under 70 yrs old (7). The most frequent etiology of AOSC was choledocholithiasis (Group A 75%, Group B 43%). Urgent biliary drainage was performed in 18 cases, and which were clinically improved. The decreasing rate of bilirubin were fair in both groups and only 2 cases in Group A were dead. Concerning with the laboratory findings on admission, Group A had a higher level of BUN than Group B, and there were no other significant differences. Complications were frequently occurred in Group A (Shock 83%, DIC 83%, Renal failure 42%). The diameter of choledochus at biliary drainage was below 9 mm in 45% of cases in Group A, which implied the rapid progression to AOSC from the onset of biliary obstruction. Early diagnosis and urgent biliary drainage were essential for the management of AOSC in the old age. PMID:1578807

  5. Clinical and Laboratory Features of Streptococcus salivarius Meningitis: A Case Report and Literature Review

    PubMed Central

    Wilson, Megan; Martin, Ryan; Walk, Seth T.; Young, Carol; Grossman, Sylvia; McKean, Erin Lin; Aronoff, David M.

    2012-01-01

    Streptococcus salivarius is a normal member of the human oral microbiome that is an uncommon cause of invasive infections. Meningitis is a rare but increasingly reported infection caused by S. salivarius. Despite the growing number of reported cases, a comprehensive review of the literature on S. salivarius meningitis is lacking. We sought to gain a better understanding of the clinical presentation, evaluation, management, and outcome of S. salivarius meningitis by analyzing previously reported cases. In addition to a single case reported here, 64 previously published cases of meningitis were identified for this review. The collected data confirm that most patients presented with classical signs and symptoms of bacterial meningitis with a predominance of neutrophils in the cerebrospinal fluid (CSF) and hypoglycorrhachia. The majority of cases followed iatrogenic or traumatic CSF contamination. Most cases were diagnosed by CSF culture within one day of symptom onset. There was no clear evidence of predisposing co-morbid conditions in patients with meningitis, although in most case reports, limited information was given on the medical history of each patient. Outcomes were generally favorable with antibiotic management. Clinicians should suspect S. salivarius meningitis in patients presenting acutely after medical or surgical procedures involving the meninges. PMID:21817122

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

    PubMed

    Ishi, Kazuhiro; Tamaoka, Akira

    2015-01-01

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

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

    PubMed

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

    2012-01-01

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

  8. Generalised periodic epileptiform discharges: clinical features, neuroradiological evaluation and prognosis in 37 adult patients.

    PubMed

    Yemisci, Muge; Gurer, Gunfer; Saygi, Serap; Ciger, Abdurrahman

    2003-10-01

    Generalised periodic epileptiform discharges (GPEDs) are very rare patterns and are classified as periodic short-interval diffuse discharges (PSIDDs), periodic long-interval diffuse discharges (PLIDDs) and suppression-burst patterns according to the interval between the discharges. In this study we analysed the demographics, history of the seizures during the current illness, mental status, diagnosis, metabolic abnormalities, neuroimaging studies and prognosis of 37 adult patients who had GPEDs in their EEGs. Ages ranged from 17 to 82 years (mean 45 years). There were 19 males and 18 females. The most common aetiology of GPEDs was metabolic and/or infectious disease which was established in 22 patients (59.5%). Other aetiologies included subacute sclerosing panencephalitis (SSPE) in 11 patients (29.7%) and Creutzfeld-Jakob disease (CJD) in 4 patients (10.8%). We showed that structural lesions were found in most of the patients with GPEDs, but concurrent metabolic abnormalities and/or infectious diseases were also detected. Consciousness was impaired and clinical conditions were poor in various degrees in all of the patients when GPEDs were seen. Relatively little is known regarding the mechanism of GPEDs. When GPEDs are seen in EEG, the patient should carefully be checked for metabolic abnormalities and/or infectious diseases and intracranial lesions. GPEDs may be helpful in the determination of prognosis, showing the poor prognosis especially in cases when suppression-burst pattern is seen. PMID:12967574

  9. Sharp mandibular bone irregularities after lower third molar extraction: Incidence, clinical features and risk factors

    PubMed Central

    Alves-Pereira, Daniela; Valmaseda-Castellón, Eduard; Laskin, Daniel M.; Berini-Aytés, Leonardo; Gay-Escoda, Cosme

    2013-01-01

    Objectives: The purpose of this study was to determine the incidence and clinical symptoms associated with sharp mandibular bone irregularities (SMBI) after lower third molar extraction and to identify possible risk factors for this complication. Study Design: A mixed study design was used. A retrospective cohort study of 1432 lower third molar extractions was done to determine the incidence of SMBI and a retrospective case-control study was done to determine potential demographic and etiologic factors by comparing those patients with postoperative SMBI with controls. Results: Twelve SMBI were found (0.84%). Age was the most important risk factor for this complication. The operated side and the presence of an associated radiolucent image were also significantly related to the development of mandibular bone irregularities. The depth of impaction of the tooth might also be an important factor since erupted or nearly erupted third molars were more frequent in the SMBI group. Conclusions: SMBI are a rare postoperative complication after lower third molar removal. Older patients having left side lower third molars removed are more likely to develop this problem. The treatment should be the removal of the irregularity when the patient is symptomatic. Key words:Third molar, postoperative complication, bone irregularities, age. PMID:23524429

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

    PubMed Central

    Cozzani, Emanuele; Drosera, Massimo; Parodi, Aurora

    2014-01-01

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

  11. Effects of ketogenic diet on the clinical and electroencephalographic features of children with drug therapy-resistant epilepsy.

    PubMed

    Li, Baomin; Tong, Lili; Jia, Guijuan; Sun, Ruopeng

    2013-02-01

    The aim of this study was to investigate the effects of a ketogenic diet (KD) on the clinical and electroencephalographic (EEG) features of children with drug therapy-resistant epilepsy. A total of 31 children with drug therapy-resistant epilepsy were selected, including 19 males and 12 females. The youngest was 7 months old and the oldest was 7 years old. Clinical seizures in the children prior to and 1 week, 1 month and 3 months after the initiation of the KD were compared and the clinical effect of the KD was evaluated. The ratio of fat to carbohydrate + protein in the KD was 4:1. Following the initiation of the KD treatment, the original antiepileptic drugs were not changed. The changes in occipital region background rhythm and interictal spike wave discharge index (SI) were evaluated prior to and 1 week, 1 month and 3 months after the initiation of the KD. The efficacy had an upward trend over time, with a total efficacy rate of 51.61% 1 week later, 67.74% 1 month later and 70.97% 3 months later. Doose syndrome showed the greatest response to KD, with a 100% efficacy rate. However, since there were only two cases in the study, its efficacy remains to be assessed. Infantile spasm also showed a good response to KD; 9 of the 16 patients were seizure free and the total efficacy rate was 81.25%. As the length of the KD treatment was increased, the background rhythms of the children underwent significant changes and the SI was significantly reduced. KD not only demonstrated good clinical efficacy, but also significantly reduced the frequency of interictal epileptic discharges and improved the EEG background rhythm. PMID:23404539

  12. Clinical features of nodular paragranuloma (Hodgkin's disease, lymphocyte predominance type, nodular).

    PubMed

    Hansmann, M L; Zwingers, T; Böske, A; Löffler, H; Lennert, K

    1984-01-01

    Clinical aspects of 145 cases of nodular paragranuloma (nodular subtype of lymphocyte predominance type of Hodgkin's disease) were investigated. There was a marked male predominance, and the age curve showed a peak in the 4th decade. In a majority of cases lymphadenopathy developed within 1 year. General (B) symptoms were observed in only 15 patients. The most frequent sites of primary involvement were cervical, axillary, and inguinal lymph nodes. Other organs were rarely involved. At the time of diagnosis 50% of patients were in stage I, 21% in stage II, 22% in stage III, and 7% in stage IV. The prognosis was usually favorable or very favorable and depended on the stage of disease at diagnosis and on the age of the patient. Patients with stage I or III disease without splenic involvement had about the same probability of survival as the normal population. Stage III patients with splenic involvement had a lower probability of survival. The prognosis for stage II was also less favorable. Patients in stage IV had the lowest probability of survival. Closer analysis of the ten stage IV cases revealed two groups with different outcomes. Four cases showed progressive disease that did not respond to treatment and led to death within 12 months. The second, more favorable form (6 patients) responded well to chemotherapy. Nine patients in stage I who were not treated after lymph node biopsy were free of disease even after periods of up to 14 years. A total of 52 patients had one or more relapses. The recurrent tumors developed locally in a majority of cases. There was transformation of nodular paragranuloma into another subtype of Hodgkin's disease in only four cases. Five cases showed transformation into large-cell tumors that resembled immunoblastic lymphoma and require further immunological study. PMID:6511805

  13. Adaptation of the application of good clinical practice depending on the features of specific research projects.

    PubMed

    Bertoye, Pierre-Henri; Courcier-Duplantier, Soizic; Best, Nicolas

    2006-01-01

    The conduct of clinical trials falls within a strict regulatory framework. The objective of the round table was to develop reasonable recommendations for the implementation of GCP according to the type of research and taking in account the risks and challenges related to this research. Two types of risks have been identified: those related to the characteristics of the research and those related to the impact of the study results. The group designed an evaluation table of these risks. The round table focused its investigations on 3 main themes: monitoring, the investigational medicinal product and undesirable effects. Three methods of monitoring adaptation were analysed in terms of advantages and disadvantages: the gradual approach, the central monitoring, monitoring on the basis of sampling. Examination of the investigational medicinal product focused on the medicinal product circuit. The group recommends using the following 'basic' decision-making tree, which takes three elements into account: 1) is it an investigational medicinal product?, 2) do the trial objectives and design require packaging specific to the research?, 3) is the risk of use higher than that in standard practice? Finally, adaptation of the implementation of GCP in terms of pharmacovigilance appeared very limited and could possibly be considered for the medicinal product, the subject of the research, which already holds a marketing authorisation, and for which the safety profile is well known; in this case, only simplified collection of non-serious adverse events may be envisaged, which may be implemented by designing and using a standard collection listing. The adaptation of the implementation of GCP is possible. This firstly takes into account the characteristics of the research: which objectives/which risks/which challenges. The options in terms of adaptation must be pre-defined, documented and justified; if necessary, they will also be re-assessed in the course of analysis. PMID:17124945

  14. [Clinical features and StAR gene mutations in children with congenital lipoid adrenal hyperplasia].

    PubMed

    Xie, Ting; Zheng, Ji-Peng; Huang, Yong-Lan; Fan, Chun; Wu, Dong-Yan; Tan, Min-Yi; Li, Xiu-Zhen; Cheng, Jing; Liu, Li

    2015-05-01

    This article reported the clinical manifestations, steroid profiles and adrenal ultrasound findings in two unrelated Chinese girls with lipoid congenital adrenal hyperplasia (LCAH). Direct DNA sequencing and restriction fragment length polymorphism (RFLP) analysis were used to identify the mutations of steroidogenic acute regulatory protein (StAR) gene. The two patients with 46,XX karyotype, presented hyperpigmentation, growth retardation, and hyponatremia. Steroid profiles analysis revealed elevated plasma adrenocorticotrophic hormone levels, decreased or normal serum cortisol levels and low levels of androgens. Ultrasound examinations revealed that enlarged adrenals in patient 1 and normal adrenals in patient 2. Direct DNA sequencing of StAR gene showed a reported homozygous for c.772C>T(p.Q258X) in patient 1. Compound heterozygous for c.367G>A(p.E123K) and IVS4+2T>A (both novel mutations) were found in patient 2, inherited from her mother and father respectively. The amino acid of mutant position of the novel p.E123K was highly conserved in ten different species and was predicted to have impacts on the structure and function of StAR protein by the PolyPhen-2 prediction software. RFLP analysis revealed three bands (670, 423 and 247 bp) in patient 2 and her father and two bands (423 and 247 bp) in her mother and 50 controls. It is concluded that LCAH should be considered in girls with early onset of adrenal insufficiency and that steroid profiles, karyotype analysis, adrenal ultrasound and StAR gene analysis may be helpful for the definite diagnosis of LCAH. PMID:26014698

  15. Clinical features and outcomes of neck lymphatic metastasis in ovarian epithelial carcinoma

    PubMed Central

    2013-01-01

    Background Neck lymph node metastasis (NLNM) in epithelial ovarian cancer (EOC) is rare and treated as advanced stage cancer. However, ovarian cancer with lymphatic metastasis may manifest a different clinical course from peritoneal carcinomatosis. Methods The authors retrospectively assessed 20 patients with EOC and pathologically diagnosed as NLNM between January 2001 and December 2010. The patients were divided into two groups according to the time of NLNM identification. Statistical methods included Kaplan-Meier, log-rank, and Cox regression analysis. Results Eleven patients were diagnosed with NLNM at the same time of surgical exploration of EOC (Group A) and nine patients at cancer recurrence 43.3 months after initial surgery (Group B). In Group A, patients with tumors confined to the pelvic cavity had no recurrence or had isolated lymph node recurrence (ILNR), and survived longer than patients with abdominal tumor spreading (P = 0.0007). In Group B, 2 patients showed ILNR. The median survival time after NLNM was 42 months in Group A and 6 months in Group B (P = 0.01). Cox model demonstrated that non-serous histology, brain metastasis, and NLNM identified at cancer recurrence were major predictors for poor overall survival (Hazard ratio [HR] = 18.67, 6.93, and 4.52; P = 0.01, 0.02, and 0.04, respectively). Conclusions A subgroup of EOC patients with NLNM who presented limited pelvic cancer had much better overall survival than patients who had cancer spreading beyond the pelvic cavity or were diagnosed with NLNM at cancer recurrence. PMID:24088247

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

    PubMed Central

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

    2013-01-01

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

  17. [Hypothalamic GH Deficiency and gelastic seizures in a 10-year-old girl with MELAS].

    PubMed

    Matsuzaki, M; Izumi, T; Ebato, K; Suzuki, H; Shishikura, K; Osawa, M; Fukuyama, Y; Shimizu, N

    1991-07-01

    A case of mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes, in which a pituitary growth hormone (GH) secretion deficiency of hypothalamic origin was revealed through neuro-endocrinological examinations, was described. The case was a 10-year-old girl, who had been suffering from generalized tonic seizures since age 5, four episodes of alternating hemiplegia since age 6, stunted growth since age 7, and simple partial motor seizures as well as gelastic seizures since age 8. Marked elevation of lactate and pyruvate in both serum and CSF, abundant ragged red fibers in biopsied muscle, and low density areas in the left occipital lobe and bilateral globus pallidus in addition to diffuse brain atrophy on CT scan and MRI of the head were demonstrated, although the activities of muscle enzymes complex I-IV were within normal ranges. Pituitary GH secretion was deficient under the loadings with insulin, L-DOPA, sleep, and a single growth hormone releasing factor (GRF) administration, but normal GH response was registered under the repetitive stimulation with GRF. Activities of other hormonal axes were normal. It is likely that short stature commonly observed in MELAS patients is due to hypothalamic dysfunction, which might be brought out by chronic ischemia and energy deficiency of the diencephalon based upon mitochondrial abnormality of that region. It is likely that gelastic seizure in this case is due to hypothalamic dysfunction. PMID:1873057

  18. Hepatitis B and liver transplantation: molecular and clinical features that influence recurrence and outcome.

    PubMed

    Ghaziani, Tahereh; Sendi, Hossein; Shahraz, Saeid; Zamor, Philippe; Bonkovsky, Herbert L

    2014-10-21

    Hepatitis B virus (HBV) continues to be a major cause of morbidity and mortality worldwide. It is estimated that about 350 million people throughout the world are chronically infected with HBV. Some of these people will develop hepatic cirrhosis with decompensation and/or hepatocellular carcinoma. For such patients, liver transplantation may be the only hope for cure or real improvement in quality and quantity of life. Formerly, due to rapidity of recurrence of HBV infection after liver transplantation, usually rapidly progressive, liver transplantation was considered to be contraindicated. This changed dramatically following the demonstration that hepatitis B immune globulin (HBIG), could prevent recurrent HBV infection. HBIG has been the standard of care for the past two decades or so. Recently, with the advent of highly active inhibitors of the ribose nucleic acid polymerase of HBV (entecavir, tenofovir), there has been growing evidence that HBIG needs to be given for shorter lengths of time; indeed, it may no longer be necessary at all. In this review, we describe genetic variants of HBV and past, present, and future prophylaxis of HBV infection during and after liver transplantation. We have reviewed the extant medical literature on the subject of infection with the HBV, placing particular emphasis upon the prevention and treatment of recurrent HBV during and after liver transplantation. For the review, we searched PubMed for all papers on the subject of "hepatitis B virus AND liver transplantation". We describe some of the more clinically relevant and important genetic variations in the HBV. We also describe current practices at our medical centers, provide a summary and analysis of comparative costs for alternative strategies for prevention of recurrent HBV, and pose important still unanswered questions that are in need of answers during the next decade or two. We conclude that it is now rational and cost-effective to decrease and, perhaps, cease altogether, the routine use of HBIG during and following liver transplantation for HBV infection. Here we propose an individualized prophylaxis regimen, based on an integrated approach and risk-assessment. PMID:25339803

  19. Clinical features of gastroduodenal injury associated with long-term low-dose aspirin therapy

    PubMed Central

    Iwamoto, Junichi; Saito, Yoshifumi; Honda, Akira; Matsuzaki, Yasushi

    2013-01-01

    Low-dose aspirin (LDA) is clinically used for the prevention of cardiovascular and cerebrovascular events with the advent of an aging society. On the other hand, a very low dose of aspirin (10 mg daily) decreases the gastric mucosal prostaglandin levels and causes significant gastric mucosal damage. The incidence of LDA-induced gastrointestinal mucosal injury and bleeding has increased. It has been noticed that the incidence of LDA-induced gastrointestinal hemorrhage has increased more than that of non-aspirin non-steroidal anti-inflammatory drug (NSAID)-induced lesions. The pathogenesis related to inhibition of cyclooxygenase (COX)-1 includes reduced mucosal flow, reduced mucus and bicarbonate secretion, and impaired platelet aggregation. The pathogenesis related to inhibition of COX-2 involves reduced angiogenesis and increased leukocyte adherence. The pathogenic mechanisms related to direct epithelial damage are acid back diffusion and impaired platelet aggregation. The factors associated with an increased risk of upper gastrointestinal (GI) complications in subjects taking LDA are aspirin dose, history of ulcer or upper GI bleeding, age > 70 years, concomitant use of non-aspirin NSAIDs including COX-2-selective NSAIDs, and Helicobacter pylori (H. pylori) infection. Moreover, no significant differences have been found between ulcer and non-ulcer groups in the frequency and severity of symptoms such as nausea, acid regurgitation, heartburn, and bloating. It has been shown that the ratios of ulcers located in the body, fundus and cardia are significantly higher in bleeding patients than the ratio of gastroduodenal ulcers in patients taking LDA. Proton pump inhibitors reduce the risk of developing gastric and duodenal ulcers. In contrast to NSAID-induced gastrointestinal ulcers, a well-tolerated histamine H2-receptor antagonist is reportedly effective in prevention of LDA-induced gastrointestinal ulcers. The eradication of H. pylori is equivalent to treatment with omeprazole in preventing recurrent bleeding. Continuous aspirin therapy for patients with gastrointestinal bleeding may increase the risk of recurrent bleeding but potentially reduces the mortality rates, as stopping aspirin therapy is associated with higher mortality rates. It is very important to prevent LDA-induced gastroduodenal ulcer complications including bleeding, and every effort should be exercised to prevent the bleeding complications. PMID:23555156

  20. Hepatitis B and liver transplantation: Molecular and clinical features that influence recurrence and outcome

    PubMed Central

    Ghaziani, Tahereh; Sendi, Hossein; Shahraz, Saeid; Zamor, Philippe; Bonkovsky, Herbert L

    2014-01-01

    Hepatitis B virus (HBV) continues to be a major cause of morbidity and mortality worldwide. It is estimated that about 350 million people throughout the world are chronically infected with HBV. Some of these people will develop hepatic cirrhosis with decompensation and/or hepatocellular carcinoma. For such patients, liver transplantation may be the only hope for cure or real improvement in quality and quantity of life. Formerly, due to rapidity of recurrence of HBV infection after liver transplantation, usually rapidly progressive, liver transplantation was considered to be contraindicated. This changed dramatically following the demonstration that hepatitis B immune globulin (HBIG), could prevent recurrent HBV infection. HBIG has been the standard of care for the past two decades or so. Recently, with the advent of highly active inhibitors of the ribose nucleic acid polymerase of HBV (entecavir, tenofovir), there has been growing evidence that HBIG needs to be given for shorter lengths of time; indeed, it may no longer be necessary at all. In this review, we describe genetic variants of HBV and past, present, and future prophylaxis of HBV infection during and after liver transplantation. We have reviewed the extant medical literature on the subject of infection with the HBV, placing particular emphasis upon the prevention and treatment of recurrent HBV during and after liver transplantation. For the review, we searched PubMed for all papers on the subject of “hepatitis B virus AND liver transplantation”. We describe some of the more clinically relevant and important genetic variations in the HBV. We also describe current practices at our medical centers, provide a summary and analysis of comparative costs for alternative strategies for prevention of recurrent HBV, and pose important still unanswered questions that are in need of answers during the next decade or two. We conclude that it is now rational and cost-effective to decrease and, perhaps, cease altogether, the routine use of HBIG during and following liver transplantation for HBV infection. Here we propose an individualized prophylaxis regimen, based on an integrated approach and risk-assessment. PMID:25339803

  1. Pregnancy-Related Systemic Lupus Erythematosus: Clinical Features, Outcome and Risk Factors of Disease Flares — A Case Control Study

    PubMed Central

    Zhao, Lidan; Wang, Qian; Leng, Xiaomei; Zheng, Wenjie; Zhang, Fengchun; Tang, Fulin; Zhang, Xuan

    2014-01-01

    Objective To investigate the clinical features, outcome, and risk factors of disease flares in patients with pregnancy-related lupus (PRL). Methods Medical charts of 155 consecutive PRL inpatients were systematically reviewed, including demographic data, clinical features, laboratory findings, treatment, complications, and outcome. Results PRL cases were divided into active (a-PRL) (n?=?82, 53.0%) and stable lupus (s-PRL) (n?=?73, 47.0%). Compared with nonpregnant active female systemic lupus erythematosus (SLE) patients, a-PRL including new-onset lupus (n-PRL) and flare lupus (f-PRL) (n?=?41 respectively), had a higher incidence of renal and hematological involvement but less mucocutaneous and musculoskeletal involvement (p<0.05). The incidence of preeclampsia/eclampsia, fetal loss, and preterm birth were significantly higher in a-PRL than in s-PRL (p<0.05). Despite receiving a more vigorous glucocorticoid treatment, a-PRL mothers had a poorer prognosis (p<0.001). Five (6.1%) of them died and 13 (15.9%) developed severe irreversible organ failure, whereas none of these events was observed in the s-PRL group. Multivariate logistic analysis indicated that a history of lupus flares and serological activity (hypocomplementemia and/or anti-dsDNA positivity) at the time of conception were associated with lupus flares in PRL mothers. Conclusions SLE patients with a flare history and serological activity at the time of conception were at an increased risk of disease flares during pregnancy and puerperium. a-PRL patients were more prone to renal and hematological involvement, pregnancy complications, and a poorer prognosis despite more vigorous glucocorticoid treatment. PMID:25118692

  2. Clinical features and symptom recovery on a gluten-free diet in Canadian adults with celiac disease

    PubMed Central

    Pulido, Olga; Zarkadas, Marion; Dubois, Sheila; MacIsaac, Krista; Cantin, Isabelle; La Vieille, Sébastien; Godefroy, Samuel; Rashid, Mohsin

    2013-01-01

    BACKGROUND: Celiac disease can present with mild or nongastrointestinal symptoms, and may escape timely recognition. The treatment of celiac disease involves a gluten-free diet, which is complex and challenging. OBJECTIVE: To evaluate clinical features and symptom recovery on a gluten-free diet in a Canadian adult celiac population. METHODS: All adult members (n=10,693) of the two national celiac support organizations, the Canadian Celiac Association and Fondation québécoise de la maladie coeliaque, were surveyed using a questionnaire. RESULTS: A total of 5912 individuals (?18 years of age) with biopsy-confirmed celiac disease and/or dermatitis herpetiformis completed the survey. The female to male ratio was 3:1, and mean (± SD) age at diagnosis was 45.2±16.4 years. Mean time to diagnosis after onset of symptoms was 12.0±14.4 years. Abdominal pain and bloating (84.9%), extreme weakness/tiredness (74.2%), diarrhea (71.7%) and anemia (67.8%) were the most commonly reported symptoms at the time of diagnosis. Many respondents continued to experience symptoms after being on a gluten-free diet for >5 years. Sex differences were reported in clinical features before diagnosis, recovery after being on gluten-free diet and perceived quality of life, with women experiencing more difficulties than men. CONCLUSIONS: Delays in diagnosis of celiac disease in Canada remain unacceptably long despite wider availability of serological screening tests. Many patients report continuing symptoms despite adhering to a gluten-free diet for >5 years, with women experiencing more symptoms and a lower recovery rate than men. Awareness of celiac disease needs improvement, and follow-up with a physician and a dietitian is essential for all patients with celiac disease. PMID:23936873

  3. Comparison of clinical features in patients with eosinophilic esophagitis living in an urban and rural environment.

    PubMed

    Lee, Y-J; Redd, M; Bayman, L; Frederickson, N; Valestin, J; Schey, R

    2015-01-01

    Eosinophilic esophagitis (EoE) has been associated with exposure to aeroallergens. Living in different locations (urban vs. rural) could potentially expose individuals to different environmental factors. Currently, there is limited data on the matter, and all was based on small population studies that did not exclude proton pump inhibitor (PPI)-responsive esophageal eosinophilia in their cohort. The primary aim of this study was to determine the prevalence of EoE in an urban versus rural population and compare demographic and clinical characteristics in patients that had been treated with high-dose PPI prior to diagnosis. Esophageal biopsies were obtained from a cohort of patients who presented with symptoms of dysphagia, odynophagia, globus sensation, and heartburn during a 10-year period. Only patients who had biopsies from the mid and distal esophagus with ?20 eosinophils per high-power field while on high-dose PPI treatment during endoscopy were included. Urban population was defined as >1000 people/square mile, and rural population was defined as ?1000 people/square mile (U.S. Census Bureau). Demographic data from each group was analyzed for age, sex, body mass index, duration of symptoms, and tobacco use. Chi-square analysis was used for frequencies with statistical significance defined as P???0.05. A total of 20?718 patients were identified and their records evaluated. From this cohort, 57 (0.28%) symptomatic patients (male/female: 39/18, mean age = 29.5 years) had biopsy-proven EoE (?20 eosinophils/hpf) while on PPI treatment. Of those EoE patients, 29 (50.9%) reported living in rural area versus 28 (49.1%) living in the urban area. The most common medical history components included asthma (12.3%), and the most common presenting symptoms included dysphagia (50.9%), heartburn (26.3%), and nausea/vomiting (22.8%). The average duration of symptoms, body mass index, and smoking habits did not differ between the groups. Dysphagia was significantly more prevalent in the urban population (37.9% vs. 64.3% P = 0.047), while heartburn and reflux were more prevalent in the rural population (37.9% vs. 14.3 P = 0.043). Asthma was prevalent in both populations without a significant difference (P = not significant). There is no residential variation in the incidence of EoE among patients with non-PPI-responsive esophageal eosinophilia. Dysphagia was more prevalent in the urban population, while heartburn and reflux symptoms were more prevalent in the rural environment. Further exploration of environmental factors and specific allergens may help explain the varying symptoms and causes of EoE. PMID:24382218

  4. Does vitamin D status correlate with clinical and biochemical features of polycystic ovarysyndrome in high school girls?

    PubMed Central

    Ghadimi, Reza; Esmaeilzadeh, Sedighe; Firoozpour, Marmar; Ahmadi, Asal

    2014-01-01

    Background: Prevalence of polycystic ovary syndrome (PCOs) is increasing particularly among the female adolescents and young women. It has been hypothesized that disturbance in calcium and vitamin-D metabolism may affect the symptoms of this syndrome. This study was designed to investigate the relationship between vitamin-D and calcium with metabolic parameters and other characteristics of the PCOs. Methods: The study included 192 Iranian girls (16-20 years old), of whom 104 had PCOs and 88 were non-PCOs controls. Serum 25(OH) D and calcium level was measured. Anthropometric components, endocrine, metabolic components and insulin resistance were determined in PCOs subjects. Results: Mean 25 (OH) D was significantly lower in cases (9.7±4.8) than controls (12.3±11.9) but calcium level did not differ between the two groups (9.3±0.3 vs 9.4±0.4). No significant correlations were found between 25(OH) D levels and lipid profile, FBS, fasting insulin endocrine parameters such as testosterone, free testosterone, FSH, LH, and prolactin. Conclusion: Although hypovitamionos D was common is PCOs but did not correlate with clinical features or complications of obesity and insulin resistance PCO like severity of syndrome between vitamin-D deficiency and its severity with some features and complications of PCOs including obesity, insulin resistance. PMID:25489430

  5. Clinical features and follow up of 302 patients with Mycobacterium kansasii pulmonary infection: a 50 year experience

    PubMed Central

    Maliwan, N; Zvetina, J

    2005-01-01

    Aims: To analyse clinical features and treatment outcomes of patients with pulmonary Mycobacterium kansasii infection treated at Hines VA Hospital between 1952 and 1995, and followed up until 2003. Findings: 302 patients were confirmed to have M kansasii pulmonary infection; diagnosis was not made until death in 2%. The average age was 50 years old; 76% were white; all were men. Productive cough, dyspnoea, and chest pain were common; 16% were asymptomatic. Right sided, apical or subapical, thin walled cavitary infiltrate was the characteristic radiological feature. Heavy smoking, chronic obstructive pulmonary disease, alcoholism, peptic ulcer disease, coronary artery disease, prior tuberculosis, psychosis, prior pneumonia, and immunocompromising conditions were prevalent. Average follow up was 10 years and 2 months. PPD was positive in 58% of 179 tested. Two thirds of the patients required only first line drugs. Fourteen per cent required surgical intervention, none after 1977. Spontaneous resolution occurred in 1%. Aspergillosis developed in 4%. Bronchogenic carcinoma coexisted with M kansasii infection in 6% and followed it in 4%. Extrapulmonary malignancy coexisted with the infection in 4% and followed it in 6%; most involved head and neck. Eleven per cent of 224 deaths were attributed to M kansasii. Outcomes were affected by comorbidity, treatment compliance, rifampicin use, and extent of infection. Conclusions: Prognosis of M kansasii pulmonary infection is good if diagnosed and treated early, together with control of underlying conditions. Clinicians should be aware of atypical radiological manifestations of the disease when coexisting with other pulmonary or immunocompromising conditions. PMID:16085747

  6. Clinical, immunological and genetic features in eleven Algerian patients with major histocompatibility complex class II expression deficiency

    PubMed Central

    2012-01-01

    Presenting processed antigens to CD4+ lymphocytes during the immune response involves major histocompatibility complex class II molecules. MHC class II genes transcription is regulated by four transcription factors: CIITA, RFXANK, RFX5 and RFXAP. Defects in these factors result in major histocompatibility complex class II expression deficiency, a primary combined immunodeficiency frequent in North Africa. Autosomal recessive mutations in the RFXANK gene have been reported as being the principal defect found in North African patients with this disorder. In this paper, we describe clinical, immunological and genetic features of 11 unrelated Algerian patients whose monocytes display a total absence of MHC class II molecules. They shared mainly the same clinical picture which included protracted diarrhoea and respiratory tract recurrent infections. Genetic analysis revealed that 9 of the 11 patients had the same RFXANK founder mutation, a 26?bp deletion (named I5E6-25_I5E6+1, also known as 752delG26). Immunological and genetic findings in our series may facilitate genetic counselling implementation for Algerian consanguineous families. Further studies need to be conducted to determine 752delG26 heterozygous mutation frequency in Algerian population. PMID:22863278

  7. Mucosal melanoma in the head and neck region: different clinical features and same outcome to cutaneous melanoma.

    PubMed

    Tas, Faruk; Keskin, Serkan

    2013-01-01

    Mucosal melanoma (MM) in the head and neck (H&N) is relatively rare and behaves in distinct pattern from cutaneous melanoma (CM). We performed this study to define clinical characteristics and outcomes of patients and emphasize MM differences from CM. Forty-one patients with MM located in H&N were assessed. 94 CM patients originated from H&N region were also used for comparison. Patients had oral cavity (51%) and sinonasal location (49%).The median age was 60 years and gender distribution was equal. Thirty-two (78%) patients had localized stage, four (10%) patients had regional lymph node metastasis, and five (12%) patients had distant metastasis. The 1- and 5-year overall survival rates were 81% and 58%, respectively. Outcomes were similar between sinonasal and oral cavity patients (P = 0.67). Advanced disease was the significant prognostic factor for outcome (P = 0.03). MM patients are older (P = 0.008) and more diagnosed as a localized disease patients at presentation than those with CM (P = 0.06). Overall survival rates were identical in patients with MM and CM (P = 0.53). In conclusion, despite different clinical features, outcome was identical in patients with MM and CM located in the H&N region. PMID:23762595

  8. Congenital myopathies--clinical features and frequency of individual subtypes diagnosed over a 5-year period in the United Kingdom.

    PubMed

    Maggi, L; Scoto, M; Cirak, S; Robb, S A; Klein, A; Lillis, S; Cullup, T; Feng, L; Manzur, A Y; Sewry, C A; Abbs, S; Jungbluth, H; Muntoni, F

    2013-03-01

    The congenital myopathies are a group of inherited neuromuscular disorders mainly defined on the basis of characteristic histopathological features. We analysed 66 patients assessed at a single centre over a 5 year period. Of the 54 patients where muscle biopsy was available, 29 (54%) had a core myopathy (central core disease, multi-minicore disease), 9 (17%) had nemaline myopathy, 7 (13%) had myotubular/centronuclear myopathy, 2 (4%) had congenital fibre type disproportion, 6 (11%) had isolated type 1 predominance and 1 (2%) had a mixed core-rod myopathy. Of the 44 patients with a genetic diagnosis, RYR1 was mutated in 26 (59%), ACTA1 in 7 (16%), SEPN1 in 7 (16%), MTM1 in 2 (5%), NEB in 1 (2%) and TPM3 in 1 (2%). Clinically, 77% of patients older than 18 months could walk independently. 35% of all patients required ventilatory support and/or enteral feeding. Clinical course was stable or improved in 57/66 (86%) patients, whilst 4 (6%) got worse and 5 (8%) died. These findings indicate that core myopathies are the most common form of congenital myopathies and that more than half can be attributed to RYR1 mutations. The underlying genetic defect remains to be identified in 1/3 of congenital myopathies cases. PMID:23394784

  9. Clinical Features and Genetic Analysis of 20 Chinese Patients with X-Linked Hyper-IgM Syndrome

    PubMed Central

    Wang, Lin-Lin; Zhou, Wei; Zhao, Wei; Tian, Zhi-Qing; Wang, Wei-Fan; Wang, Xiao-Fang; Chen, Tong-Xin

    2014-01-01

    X-linked hyper-IgM syndrome (XHIGM) is one type of primary immunodeficiency diseases, resulting from defects in the CD40 ligand/CD40 signaling pathways. We retrospectively analyzed the clinical and molecular features of 20 Chinese patients diagnosed and followed up in hospitals affiliated to Shanghai Jiao Tong University School of Medicine from 1999 to 2013. The median onset age of these patients was 8.5 months (range: 20 days–21 months). Half of them had positive family histories, with a shorter diagnosis lag. The most common symptoms were recurrent sinopulmonary infections (18 patients, 90%), neutropenia (14 patients, 70%), oral ulcer (13 patients, 65%), and protracted diarrhea (13 patients, 65%). Six patients had BCGitis. Six patients received hematopoietic stem cell transplantations and four of them had immune reconstructions and clinical remissions. Eighteen unique mutations in CD40L gene were identified in these 20 patients from 19 unrelated families, with 12 novel mutations. We compared with reported mutation results and used bioinformatics software to predict the effects of mutations on the target protein. These mutations reflected the heterogeneity of CD40L gene and expanded our understanding of XHIGM. PMID:25215306

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

    PubMed

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

    2008-02-01

    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, has severe epilepsy, exhibits electroencephalographic changes, and is drug resistant. We suggest that the pseudoperiodic patterns observed on the EEGs for these cases represent this genetic form of epilepsy, though differing in frequency, voltage, and associated patterns. This is in agreement with data reported by other authors indicating that no unique pattern can be identified in subjects with CDKL5 mutations. Thus, a CDKL5 investigation should be performed in developmentally delayed patients with early-onset seizures, including drug-resistant subjects with severe EEG changes, as well as in patients with milder, drug-responsive forms of epilepsy. PMID:18063413

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

    PubMed

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

    2005-08-01

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

  12. Clinical features and gene mutational spectrum of CDKL5-related diseases in a cohort of Chinese patients

    PubMed Central

    2014-01-01

    Background Mutations in the cyclin-dependent kinase-like 5 (CDKL5) (NM_003159.2) gene have been associated with early-onset epileptic encephalopathies or Hanefeld variants of RTT(Rett syndrome). In order to clarify the CDKL5 genotype-phenotype correlations in Chinese patients, CDKL5 mutational screening in cases with early-onset epileptic encephalopathies and RTT without MECP2 mutation were performed. Methods The detailed clinical information including clinical manifestation, electroencephalogram (EEG), magnetic resonance imaging (MRI), blood, urine amino acid and organic acid screening of 102 Chinese patients with early-onset epileptic encephalopathies and RTT were collected. CDKL5 gene mutations were analyzed by PCR, direct sequencing and multiplex ligation-dependent probe amplification (MLPA). The patterns of X-chromosome inactivation (XCI) were studied in the female patients with CDKL5 gene mutation. Results De novo CDKL5 gene mutations were found in ten patients including one missense mutation (c.533G > A, p.R178Q) which had been reported, two splicing mutations (ISV6 + 1A > G, ISV13 + 1A > G), three micro-deletions (c.1111delC, c.2360delA, c.234delA), two insertions (c.1791 ins G, c.891_892 ins TT in a pair of twins) and one nonsense mutation (c.1375C > T, p.Q459X). Out of ten patients, 7 of 9 females with Hanefeld variants of RTT and the remaining 2 females with early onset epileptic encephalopathy, were detected while only one male with infantile spasms was detected. The common features of all female patients with CDKL5 gene mutations included refractory seizures starting before 4 months of age, severe psychomotor retardation, Rett-like features such as hand stereotypies, deceleration of head growth after birth and poor prognosis. In contrast, the only one male patient with CDKL5 mutation showed no obvious Rett-like features as females in our cohort. The X-chromosome inactivation patterns of all the female patients were random. Conclusions Mutations in CDKL5 gene are responsible for 7 with Hanefeld variants of RTT and 2 with early-onset epileptic encephalopathy in 71 girls as well as for 1 infantile spasms in 31 males. There are some differences in the phenotypes among genders with CDKL5 gene mutations and CDKL5 gene mutation analysis should be considered in both genders. PMID:24564546

  13. Leiomyosarcoma with alternative lengthening of telomeres is associated with aggressive histologic features, loss of ATRX expression, and poor clinical outcome.

    PubMed

    Liau, Jau-Yu; Tsai, Jia-Huei; Jeng, Yung-Ming; Lee, Jen-Chieh; Hsu, Hung-Han; Yang, Ching-Yao

    2015-02-01

    Leiomyosarcoma is an aggressive soft tissue sarcoma with poor patient survival. Recently, it was shown that 53% to 62% of leiomyosarcomas use the alternative lengthening of telomeres (ALT) as their telomere maintenance mechanism. The molecular basis of this mechanism has not been elucidated. Studies of pancreatic neuroendocrine tumor have suggested that the inactivation of either ?-thalassemia/mental retardation syndrome X-linked (ATRX) or death domain-associated (DAXX) protein is associated with the ALT phenotype. In this study, we sought to determine the clinicopathologic features of leiomyosarcoma with the ALT phenotype and the possible relationship between this phenotype and ATRX/DAXX expression. Telomerase reverse transcriptase gene (TERT) promoter mutation analysis was also performed. Ninety-two leiomyosarcomas derived from the uterus, retroperitoneum/intra-abdomen, and various other sites were analyzed. Telomere-specific fluorescence in situ hybridization revealed that 59% (51/86) of leiomyosarcomas had the ALT phenotype. Loss of ATRX expression was observed in 33% of the tumors (30/92), and all but 2 ATRX-deficient tumors were ALT positive. Both the ALT phenotype and loss of ATRX expression were associated with epithelioid/pleomorphic cell morphology, tumor necrosis, and poor differentiation. None of the 92 cases lost DAXX expression. No TERT promoter mutation was detected (n=39). For survival analysis, poor differentiation, high FNCLCC grade, tumor size, and ALT phenotype were correlated with poor overall survival in univariate analysis. Tumor size and ALT phenotype remained independent prognostic factors in multivariate analysis. We concluded that the ALT phenotype in the leiomyosarcoma is associated with aggressive histologic features, loss of ATRX expression, and poor clinical outcome. PMID:25229770

  14. Polycystic ovaries and associated clinical and biochemical features among women with infertility in a tertiary hospital in Tanzania.

    PubMed

    Pembe, A B; Abeid, M S

    2009-10-01

    The aim of this study was to determine prevalence of polycystic ovaries (PCO) and associated clinical and biochemical features among women with infertility attending gynaecological outpatient department (GOPD) at Muhimbili National Hospital (MNH) in Dar es Salaam, Tanzania. All women with infertility attending the GOPD from 11th September 2006 to 15th February 2007 were recruited to the study. Information on socio-demographic, obstetric and menstrual characteristics was collected. Anthropometric measurement, clinical examination of acne and hirsutism, vaginal ultrasonography for PCO and biochemical analysis of luteinizing hormone (LH), follicle stimulating hormone (FSH) and testosterone were performed. All 102 women who attended the GOPD during the study period due to infertility were recruited. Two women were excluded after diagnosis of pregnancy made by hormonal assay and ultrasonography thus remaining with 100 women for analysis. Oligomenorrhoea and acne were significantly higher in a group of women with PCO than among women with normal ovaries. The mean hirsutism score though was not significant, was higher in women with PCO than in women with normal ovaries (5.1 +/- 2.7 vs. 4 +/- 2.4, P < 0.057). Using the Rotterdam criteria 32 (32%) women were diagnosed to have polycystic ovary syndrome (PCOS). Among these women 25 (78.1%) had PCO, 24 (75%) had signs of oligoanovulation, and 18 (56.3%) had hirsutism. Among 68 women with no PCOS, 7 (10.3%) had polycystic ovaries, 15 (22.1%) had signs of oligoanovulation and 6 (8.8%) had hirsutism. In conclusion, polycystic ovaries are common among women with infertility, however are not necessarily associated with polycystic ovary syndrome. Doctors should investigate their clients for PCOS and offer appropriate treatment. PMID:20734696

  15. [Immunophenotype. Clinical and laboratory features of acute lymphoblastic leukemia in Chile. Study of 500 children and 131 adults].

    PubMed

    Cabrera, M E; Labra, S; Ugarte, S; Matutes, E; Greaves, M F

    1996-03-01

    We describe the clinical features and immunophenotype of 500 children and 131 adults with acute lymphoblastic leukemia (ALL), diagnosed between 1984 and 1993. Cases were classified, according to immunophenotype in B-cell ALL with three subtypes (pro-B or null, common and B) and T-cell ALL. Among children, common ALL accounted for 74% of cases and pro-B all was more common in children of less than one year (14%). B ALL was observed in 2% of children. Ten percent of children, mostly males, had T-cell ALL. The third part of these children had high leukocyte counts and a mediastinal mass. Children from Mapuche origin, compared with Caucasian children had a lower proportion of common ALL (36 and 74% respectively) and a higher proportions of T-cell ALL (41 and 10% respectively). Among adults common ALL was the most common phenotype (72%) followed by T-cell ALL (15%), pro-B ALL (11%) and B-cell ALL (2%). There was a lower incidence of children with common ALL with positive cytoplasmic immunoglobulin compared to North American or European studies (2 and 15-33% respectively) and a higher proportion of adults with common ALL compared with pro-B cell ALL, in contrast to European studies that show a higher proportion of patients with pro-B cell ALL. No other immunophenotypic, clinical or laboratory differences were observed with ALL from developed countries. It is concluded that the immunophenotyping of ALL allows a more precise diagnosis of this disease. PMID:9008940

  16. Levels of personality functioning and their association with clinical features and interpersonal functioning in patients with personality disorders.

    PubMed

    Lowyck, Benedicte; Luyten, Patrick; Verhaest, Yannic; Vandeneede, Bart; Vermote, Rudi

    2013-06-01

    Recently, the DSM-5 Personality and Personality Disorders Work Group has proposed a multiple level approach toward the classification and diagnosis of personality disorders (PDs), with the first level entailing a rating of impairments in levels of personality functioning. Although a number of measures that assess levels of personality functioning have been validated, given its prominent status in the DSM-5 proposal and contemporary theories of personality pathology, the Work Group has called for more research in this area (e.g., Bender, Morey, & Skodol, 2011). In response to this call, this study investigates the relationship between two major, well-validated dimensional measures of levels of personality functioning, that is, the Differentiation-Relatedness Scale (DR-S; Diamond, Blatt, Stayner, & Kaslow, 1991), as scored on the Object Relations Inventory (ORI; Blatt, Wein, Chevron, & Quinlan, 1979), and the Inventory of Personality Organization (IPO; Lenzenweger, Clarkin, Kernberg, & Foelsch, 2001), a self-report instrument, and their relationship with different measures of clinical and interpersonal functioning in 70 patients with a PD. First, results showed that higher levels of differentiation and relatedness of descriptions of self and significant others, and of the self in particular, were negatively related to indices of personality functioning as assessed by the IPO. Lower levels of personality functioning, as measured with both the DR-S and the IPO, were positively related to severity of depression, symptomatic distress, self-harm, and interpersonal problems. Finally, results showed that the DR-S and the IPO independently predicted clinical features and interpersonal functioning. Hence, this study lends further support for the concurrent and predictive validity of the DR-S and the IPO in assessing levels of personality functioning. However, more research concerning the validity of these measures in assessing levels of personality functioning is needed. Suggestions for further research are formulated. PMID:23735041

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

    PubMed Central

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

    2015-01-01

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

  18. Towards evidence-based emergency medicine: best BETs from the Manchester Royal Infirmary. BET 3: what are the clinical features of Salvia divinorum toxicity?

    PubMed

    Dueweke, Justin R

    2013-04-01

    A short-cut review was carried out to determine the clinical features associated with acute intoxication with Salvia divinorum. Sixty-six papers were found using the reported searches, of which three presented the best evidence to answer the clinical question. The author, date and country of publication, patient group studied, study type, relevant outcomes, results and study weaknesses of these best papers are tabulated. It is concluded that the most common features of intoxication are tachycardia, hallucinations and acute alteration in mental status. PMID:23511943

  19. Clinical Features and Molecular Genetics: Early infantile epileptic encephalopathy (EIEE), also known as Ohtahara syndrome, is a severe form of epilepsy characterized

    E-print Network

    Das, Soma

    SLC2A1 ARX MAGI2 SCN1A SPTAN1 CDKL5 PCDH19 SLC25A22 STXBP1 Gene / Condition Clinical Features/cryptogenic infantile spasms may have mutations in the ARX gene [1, 6]. CDKL5 EIEE2 [OMIM#300203] CDKL5 contains feature found in patients reported to date with CDKL5 mutations is the early onset of seizures. Archer et

  20. Single-fiber PCR in MELAS(3243) patients: correlations between intratissue distribution and phenotypic expression of the mtDNA(A3243G) genotype.

    PubMed

    Silvestri, G; Rana, M; Odoardi, F; Modoni, A; Paris, E; Papacci, M; Tonali, P; Servidei, S

    2000-09-18

    We performed morphological, biochemical, and genetic studies, including single-fiber PCR (sf PCR), on muscle biopsies obtained from a mother and daughter with MELAS syndrome due to the A3243G transition of mitochondrial DNA (mtDNA). The severity of muscle involvement appeared quite distinct, in spite of the fact that both patients segregated similar mutant mtDNA levels on total muscle DNA. The daughter did not show any clinical muscle involvement: muscle biopsy revealed many ragged red fibers (RRFs) mostly positive for cytochrome-c oxidase (COX) activity. In contrast, her mother had developed a generalized myopathy without progressive external ophthalmoplegia (PEO), morphologically characterized by many COX-negative RRFs. Single-muscle fiber PCR demonstrated in both patients significantly higher percentages of wild-type mtDNA in normal fibers (daughter: 23.25 +/- 15.22; mother: 43.13 +/- 26.11) than in COX-positive RRFs (daughter: 11.25 +/- 5.22, P < 0.005; mother: 9.12 +/- 5.9, P < 0.001) and in COX-negative RRFs (daughter: 8.9 +/- 4.2, P < 0.001 mother: 4.8 +/- 2.8, P < 0.001). Wild-type mtDNA levels resulted higher also in COX-positive vs. COX-negative RRFs (daughter: P < 0.05; mother: P < 0.001). Our data confirm a direct correlation between A3243G levels and impairment of COX function at the single-muscle fiber level. Moreover, the evidence of a clinical myopathy in the patient with higher amounts of COX-negative RRFs bolsters the concept that a differential distribution of mutant mtDNAs at the cellular level may have effects on the clinical involvement of individual tissues. However, the occurrence of a similar morphological and biochemical muscle phenotype also in PEO(3243) patients suggests that other genetic factors involved in the interaction between mitochondrial and nuclear DNA, rather than the stochastic distribution of mtDNA genomes during embryogenesis, are primarily implicated in determining the various clinical expressions of the A3243G of mtDNA. PMID:10995506

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

    PubMed

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

    2014-04-01

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

  2. Associations of obsessive-compulsive symptoms with clinical and neurocognitive features in schizophrenia according to stage of illness.

    PubMed

    Kim, Sung-Wan; Jeong, Bo-Ok; Kim, Jae-Min; Shin, Il-Seon; Hwang, Michael Y; Paul Amminger, G; Nelson, Barnaby; Berk, Michael; McGorry, Patrick; Yoon, Jin-Sang

    2015-03-30

    This study aimed to investigate the association of obsessive-compulsive symptoms with clinical and neurocognitive features in patients with schizophrenia. This study enrolled 163 people with schizophrenia who were receiving risperidone monotherapy. Comorbid obsessive-compulsive symptoms were assessed using the Yale-Brown Obsessive-Compulsive Scale, and subjects with a score ? 10 constituted the obsessive-compulsive symptom group (n=30, 18.4%). The learning index was significantly higher in patients with obsessive-compulsive symptoms than in those without such symptoms after adjusting for age, stage (early and chronic), duration of illness, and CDSS score. However, there was no significant interaction between obsessive-compulsive symptoms and stage of illness. Scores on Positive and Negative Syndrome Scale, Calgary Depression Scale for Schizophrenia, and Beck Depression Inventory were significantly higher in the obsessive-compulsive symptom group. In addition, the Subjective Well-being under Neuroleptic Treatment score was significantly lower in the obsessive-compulsive symptom group. In conclusion, comorbid obsessive-compulsive symptoms in patients with schizophrenia were associated with a higher learning ability without a significant interaction with stage of illness. However, schizophrenia patients with obsessive-compulsive symptoms had more severe psychotic and depressive symptoms and poorer quality of life. PMID:25681006

  3. Clinical features and risk factors of lactic acidosis following long-term antiretroviral therapy: 4 fatal cases.

    PubMed

    ter Hofstede, H J; de Marie, S; Foudraine, N A; Danner, S A; Brinkman, K

    2000-09-01

    Our objective was to describe clinical features and predisposing factors attributed to lactic acidosis in 4 HIV-infected patients on long-term nucleoside reverse transcriptase inhibitor (NRTI) therapy. All patients had received at least 6-20 months of NRTI-containing antiretroviral therapy: all used stavudine (d4T), in one combined with lamivudine (3TC), in the other 3 with didanosine (ddI); in one hydroxyurea was added. In all, the initial symptoms were gastrointestinal (nausea and vomiting), followed by tachypnoea preceding the lactic acidosis; death followed 6-22 days after admission (liver failure and uncontrollable arrhythmias). Treatment with riboflavin was unsuccessful in one patient. The only definite risk factor in all cases was NRTI-induced mitochondrial toxicity; one patient was concomitantly treated for Kaposi's sarcoma (with bleomycin and vinblastine) and one just recovered from pneumococcal sepsis. None of the patients had a history of chronic hepatitis B virus (HBV) or hepatitis C virus (HCV) infection. In all patients, some sort of toxicity to other previously used NRTIs had occurred earlier. Lactic acidosis occurred after months of NRTI therapy in patients who had already suffered other forms of NRTI toxicity. Concomitant diseases or comedication might have aggravated the mitochondrial toxicity of the NRTIs. Screening methods to detect mitochondrial toxicity are necessary, since lactic acidosis occurs rather unexpectedly, with a rapid, fatal course. PMID:10997508

  4. Association of HLA-DQB1*0501 with scleroderma and its clinical features in Chinese population.

    PubMed

    Zhou, X D; Yi, L; Guo, X J; Chen, E; Zou, H J; Jin, L; Mayes, M D; Assassi, S; Wang, J C

    2013-01-01

    Specific human leukocyte antigen (HLA) DQB1 alleles confer strong susceptibility to systemic sclerosis (SSc). However, the frequencies of specific DQB1 alleles and their associations with SSc vary according to ethnicity and clinical features of SSc. The aim of this study was to profile DQB1 alleles in a Chinese population and to identify specific DQB1 alleles in association with SSc of Han Chinese. A cohort containing 213 patients with SSc and 239 gender-matched and unrelated controls was examined in the study. The HLA-DQB1 genotyping was performed with sequence-based typing (SBT) method. Exact p-values were obtained (Fisher's test) from 2x2 tables of allele counts or allele carriers and disease status. Seventeen DQB1 alleles were found in the cohort. DQB1*03:03 was the most common allele in this cohort. DQB1*05:01 was significantly increased in SSc, and was strongly associated with anti-centromere autoantibodies (ACA). Compared with SSc in other ethnic populations, SSc patients of Han Chinese are distinct in association with DQB1*06:11, common in association with DQB1*05:01, but lack association with DQB1*03:01. In addition, DQB1*06:01 appeared more common in ATA-positive Chinese SSc, and marginally associated with pulmonary fibrosis, and an increased frequency of DQB1*03:03 was observed in anti-U1RNP-positive Chinese SSc patients. PMID:24067471

  5. Mitochondrial encephalopathy with multiple mitochondrial DNA deletions: a report of two families and two sporadic cases with unusual clinical and neuropathological features

    Microsoft Academic Search

    R. M Chalmers; M Brockington; R. S Howard; B. R. F Lecky; J. A Morgan-Hughes; A. E Harding

    1996-01-01

    A mitochondrial myopathy associated with multiple deletions of mitochondrial DNA has been identified in pedigrees showing an autosomal dominant mode of inheritance. We report the first two British kindreds with this disorder, and two sporadic cases. The families exhibited some unusual clinical features, including pigmentary retinopathy and tremor; the latter was levodopa-responsive and associated with rigidity and micrographia in one

  6. DO THE NATIONAL INSTITUTE OF DIABETES AND DIGESTIVE AND KIDNEY DISEASES CYSTOSCOPIC CRITERIA ASSOCIATE WITH OTHER CLINICAL AND OBJECTIVE FEATURES OF INTERSTITIAL CYSTITIS?

    Microsoft Academic Search

    DEBORAH R. ERICKSON; JOHN E. TOMASZEWSKI; ALLEN R. KUNSELMAN; CHRISTINA M. BENTLEY; KENNETH M. PETERS; ERIC S. ROVNER; LAURENCE M. DEMERS; MARCIA A. WHEELER; SUSAN K. KEAY

    2005-01-01

    PurposeWe compared urine markers, bladder biopsy findings and clinical features of patients with symptoms of interstitial cystitis (IC) who did or did not meet the cystoscopic criteria defined by the National Institute of Diabetes and Digestive and Kidney Diseases.

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

    E-print Network

    Das, Soma

    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 Services Laboratories PCDH19 Analysis for X-linked Female-Limited Epilepsy with Mental Retardation

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

    ERIC Educational Resources Information Center

    Ciaghi, Maddalena; Pancheri, Elisa; Miceli, Gabriele

    2010-01-01

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

  9. Clinical Features of Cardio-Renal Syndrome in a Cohort of Consecutive Patients Admitted to an Internal Medicine Ward

    PubMed Central

    Fabbian, F; Pala, M; De Giorgi, A; Scalone, A; Molino, C; Portaluppi, F; Mikhailidis, D.P; Manfredini, R

    2011-01-01

    Introduction: Cardiorenal syndrome (CRS) is a disorder of the heart and kidney whereby interactions between the 2 organs can occur. We recorded the clinical features of CRS in patients consecutively admitted to an Internal Medicine ward. Patients and Methods: We retrospectively analyzed the anthropometric, history, clinical, biochemical and treatment characteristics in 438 out of 2,998 subjects (14.6%) admitted to our unit (from June 2007 to December 2009), diagnosed with CRS, according to Acute Dialysis Quality Initiative (ADQI) recommendations. Estimated glomerular filtration (eGFR) was calculated using several equations: MDRD (Modification of Diet in Renal Disease; 2 variations GFRMDRD186, GFRMDRD175), Mayo, Chronic Kidney Disease Epidemiology Collaboration (CKD-EPI) and Cockroft-Gault. Results: Mean age was 80±8 years, 222 (50.6%) were males, 321 (73.2%) were smokers, 229 (52.2%) were diabetic, 207 (47.2%) had a history of acute myocardial infarction, 167 (38.1%) had angina, 135 (30.8%) were affected by cerebrovascular disease, 339 (77.3%) had peripheral arterial disease. CRS was type 1 in 211 cases (48.2%), type 2 in 96 (21.9%), type 3 in 88 (20.1%), type 4 in 29 (6.6%) and type 5 in 14 (3.2%). eGFR, calculated by different formulae, ranged between 31 and 36 ml/min/1.73 m2. GFR was lower in CRS type 3 than in the other types, and the values ranged between 24 and 27 ml/min/1.73 m2. Mean hospital length-of-stay (LOS) was 9.8±6.3 days. Diuretics were the most prescribed medication (78.7%); only 5 patients underwent haemodialysis. Conclusions: CRS is common, especially in the elderly. CRS Type 1 was the prevalent subset and patients had stage 3-4 renal insufficiency. Results obtained from the GFR equations were similar although the Mayo equation tended to overestimate the eGFR. PMID:22207887

  10. [Does coexistence of involvement of the right dominant coronary artery differentiate clinical features of disease of the common trunk from disease of 3 coronary vessels?].

    PubMed

    Conte, M R; Orzan, F; Brusca, A; De Benedictis, M; Bonzano, A; Bobbio, M

    1994-11-01

    We have studied clinical and ECG stress features of 119 patients with left main disease and 113 matched patients with three vessels coronary disease. Clinical features and ECG stress test do not differentiate the two groups as a whole. Exercise time duration was shorter, ST criteria were more positive, and peak heart rate was lower in the subgroups of patients with left main and involvement of a right dominant coronary artery. However due to a large overlap these criteria do not seem to be clinically useful. In conclusion, in an individual patient angina and stress ECG criteria do not differentiate the patients with left main from those with three vessels coronary artery disease. PMID:7736476

  11. Clinical Features of Patients on Home Oxygen Therapy Due to Chronic Respiratory Failure at One University Hospital

    PubMed Central

    Kim, Kyoung Hee; Park, Tae Yun; Kim, Eun Sun; Chung, Keun Bum; Lee, Sang-Min; Yim, Jae-Joon; Yoo, Chul-Gyu; Kim, Young Whan; Han, Sung Koo

    2012-01-01

    Background/Aims Home oxygen therapy (HOT) costs a great deal every year and demand for the service is growing. In Korea, health insurance has covered HOT since November 1, 2006. The objective of this study was to evaluate clinical features of patients who used long-term HOT due to chronic respiratory failure and to determine the appropriateness of oxygen prescriptions. Methods Between November 2006 and April 2010, patients prescribed long-term HOT were enrolled in the study at a tertiary university referral hospital and their medical records and telephone survey information were evaluated. In total, 340 patients were evaluated retrospectively. Results Regarding the initial indications for HOT, their mean PaO2 was 49.8 mmHg and mean SpO2 was 82.2%. Underlying diseases included chronic obstructive pulmonary disease (COPD, 19.8%), lung cancer (12.6%), and interstitial lung disease (11.2%). The admission rate within 1 year was 53.4% and the average number of admissions was 1.64/patient. Other underlying diseases for which oxygen was prescribed, despite not meeting the insurance coverage criteria, were lung cancer (36.6%) and interstitial pneumonia (16.6%). Conclusions Home oxygen prescriptions have increased since health insurance coverage was extended. However, cases of oxygen prescriptions frequently do not meet the coverage criteria. It is important to discuss extending the coverage criteria to other disease groups, such as interstitial lung disease and lung cancer, in terms of cost-effectiveness. Further, physicians prescribing oxygen therapy should be educated regarding the criteria. PMID:23019396

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

    PubMed Central

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

    2015-01-01

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

  13. Clinical and cellular features in patients with primary autosomal recessive microcephaly and a novel CDK5RAP2 mutation

    PubMed Central

    2013-01-01

    Background Primary autosomal recessive microcephaly (MCPH) is a rare neurodevelopmental disorder that results in severe microcephaly at birth with pronounced reduction in brain volume, particularly of the neocortex, simplified cortical gyration and intellectual disability. Homozygous mutations in the Cyclin-dependent kinase 5 regulatory subunit-associated protein 2 gene CDK5RAP2 are the cause of MCPH3. Despite considerable interest in MCPH as a model disorder for brain development, the underlying pathomechanism has not been definitively established and only four pedigrees with three CDK5RAP2 mutations have been reported. Specifically for MCPH3, no detailed radiological or histological descriptions exist. Methods/Results We sought to characterize the clinical and radiological features and pathological cellular processes that contribute to the human MCPH3 phenotype. Haplotype analysis using microsatellite markers around the MCPH1-7 and PNKP loci in an Italian family with two sons with primary microcephaly, revealed possible linkage to the MCPH3 locus. Sequencing of the coding exons and exon/intron splice junctions of the CDK5RAP2 gene identified homozygosity for the novel nonsense mutation, c.4441C?>?T (p.Arg1481*), in both affected sons. cMRI showed microcephaly, simplified gyral pattern and hypogenesis of the corpus callosum. The cellular phenotype was assessed in EBV-transformed lymphocyte cell lines established from the two affected sons and compared with healthy male controls. CDK5RAP2 protein levels were below detection level in immortalized lymphocytes from the patients. Moreover, mitotic spindle defects and disrupted ?-tubulin localization to the centrosome were apparent. Conclusion These results suggest that spindle defects and a disruption of centrosome integrity play an important role in the development of microcephaly in MCPH3. PMID:23587236

  14. Causes, Clinical Features, and Outcomes From a Prospective Study of Drug-Induced Liver Injury in the United States

    PubMed Central

    Chalasani, Naga; Fontana, Robert J.; Bonkovsky, Herbert L.; Watkins, Paul B.; Davern, Timothy; Serrano, Jose; Yang, Hongqiu; Rochon, James

    2013-01-01

    Background & Aims Idiosyncratic drug-induced liver injury (DILI) is among the most common causes of acute liver failure in the United States, accounting for approximately 13% of cases. A prospective study was begun in 2003 to recruit patients with suspected DILI and create a repository of biological samples for analysis. This report summarizes the causes, clinical features, and outcomes from the first 300 patients enrolled. Methods Patients with suspected DILI were enrolled based on predefined criteria and followed up for at least 6 months. Patients with acetaminophen liver injury were excluded. Results DILI was caused by a single prescription medication in 73% of the cases, by dietary supplements in 9%, and by multiple agents in 18%. More than 100 different agents were associated with DILI; antimicrobials (45.5%) and central nervous system agents (15%) were the most common. Causality was considered to be definite in 32%, highly likely in 41%, probable in 14%, possible in 10%, and unlikely in 3%. Acute hepatitis C virus (HCV) infection was the final diagnosis in 4 of 9 unlikely cases. Six months after enrollment, 14% of patients had persistent laboratory abnormalities and 8% had died; the cause of death was liver related in 44% Conclusions DILI is caused by a wide array of medications, herbal supplements, and dietary supplements. Antibiotics are the single largest class of agents that cause DILI. Acute HCV infection should be excluded in patients with suspected DILI by HCV RNA testing. The overall 6-month mortality was 8%, but the majority of deaths were not liver related. PMID:18955056

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

    PubMed Central

    Iloh, Gabriel Uche Pascal; Ikwudinma, Austin Obiora

    2013-01-01

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

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

    SciTech Connect

    Zhang, Hao [Department of Radiation Oncology, University of Maryland School of Medicine, Baltimore, Maryland (United States); Tan, Shan [Department of Radiation Oncology, University of Maryland School of Medicine, Baltimore, Maryland (United States); Department of Control Science and Engineering, Huazhong University of Science and Technology, Wuhan (China); Chen, Wengen; Kligerman, Seth [Department of Diagnostic Radiology and Nuclear Medicine, University of Maryland School of Medicine, Baltimore, Maryland (United States); Kim, Grace; D'Souza, Warren D.; Suntharalingam, Mohan [Department of Radiation Oncology, University of Maryland School of Medicine, Baltimore, Maryland (United States); Lu, Wei, E-mail: wlu@umm.edu [Department of Radiation Oncology, University of Maryland School of Medicine, Baltimore, Maryland (United States)

    2014-01-01

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

  17. Paediatric autoimmune encephalopathies: clinical features, laboratory investigations and outcomes in patients with or without antibodies to known central nervous system autoantigens

    PubMed Central

    Hacohen, Yael; Wright, Sukhvir; Waters, Patrick; Agrawal, Shakti; Carr, Lucinda; Cross, Helen; De Sousa, Carlos; DeVile, Catherine; Fallon, Penny; Gupta, Rajat; Hedderly, Tammy; Hughes, Elaine; Kerr, Tim; Lascelles, Karine; Lin, Jean-Pierre; Philip, Sunny; Pohl, Keith; Prabahkar, Prab; Smith, Martin; Williams, Ruth; Clarke, Antonia; Hemingway, Cheryl; Wassmer, Evangeline; Vincent, Angela; Lim, Ming J

    2013-01-01

    Objective To report the clinical and investigative features of children with a clinical diagnosis of probable autoimmune encephalopathy, both with and without antibodies to central nervous system antigens. Method Patients with encephalopathy plus one or more of neuropsychiatric symptoms, seizures, movement disorder or cognitive dysfunction, were identified from 111 paediatric serum samples referred from five tertiary paediatric neurology centres to Oxford for antibody testing in 2007–2010. A blinded clinical review panel identified 48 patients with a diagnosis of probable autoimmune encephalitis whose features are described. All samples were tested/retested for antibodies to N-methyl-D-aspartate receptor (NMDAR), VGKC-complex, LGI1, CASPR2 and contactin-2, GlyR, D1R, D2R, AMPAR, GABA(B)R and glutamic acid decarboxylase. Results Seizures (83%), behavioural change (63%), confusion (50%), movement disorder (38%) and hallucinations (25%) were common. 52% required intensive care support for seizure control or profound encephalopathy. An acute infective organism (15%) or abnormal cerebrospinal fluid (32%), EEG (70%) or MRI (37%) abnormalities were found. One 14-year-old girl had an ovarian teratoma. Serum antibodies were detected in 21/48 (44%) patients: NMDAR 13/48 (27%), VGKC-complex 7/48(15%) and GlyR 1/48(2%). Antibody negative patients shared similar clinical features to those who had specific antibodies detected. 18/34 patients (52%) who received immunotherapy made a complete recovery compared to 4/14 (28%) who were not treated; reductions in modified Rankin Scale for children scores were more common following immunotherapies. Antibody status did not appear to influence the treatment effect. Conclusions Our study outlines the common clinical and paraclinical features of children and adolescents with probable autoimmune encephalopathies. These patients, irrespective of positivity for the known antibody targets, appeared to benefit from immunotherapies and further antibody targets may be defined in the future. PMID:23175854

  18. Common neuropathological features underlie distinct clinical presentations in three siblings with hereditary diffuse leukoencephalopathy with spheroids caused by CSF1R p.Arg782His.

    PubMed

    Robinson, John L; Suh, EunRan; Wood, Elisabeth M; Lee, Edward B; Coslett, H Branch; Raible, Kevin; Lee, Virginia M-Y; Trojanowski, John Q; Van Deerlin, Vivianna M

    2015-01-01

    Hereditary diffuse leukoencephalopathy with spheroids (HDLS) presents with a variety of clinical phenotypes including motor impairments such as gait dysfunction, rigidity, tremor and bradykinesia as well as cognitive deficits including personality changes and dementia. In recent years, colony stimulating factor 1 receptor gene (CSF1R) has been identified as the primary genetic cause of HDLS. We describe the clinical and neuropathological features in three siblings with HDLS and the CSF1R p.Arg782His (c.2345G?>?A) pathogenic mutation. Each case had varied motor symptoms and clinical features, but all included slowed movements, poor balance, memory impairment and frontal deficits. Neuroimaging with magnetic resonance imaging revealed atrophy and increased signal in the deep white matter. Abundant white matter spheroids and CD68-positive macrophages were the predominant pathologies in these cases. Similar to other cases reported in the literature, the three cases described here had varied clinical phenotypes with a pronounced, but heterogeneous distribution of axonal spheroids and distinct microglia morphology. Our findings underscore the critical importance of genetic testing for establishing a clinical and pathological diagnosis of HDLS. PMID:26141825

  19. Bacteraemia caused by third-generation cephalosporin-resistant Escherichia coli in France: prevalence, molecular epidemiology and clinical features.

    PubMed

    Courpon-Claudinon, A; Lefort, A; Panhard, X; Clermont, O; Dornic, Q; Fantin, B; Mentré, F; Wolff, M; Denamur, E; Branger, C

    2011-04-01

    Escherichia coli is one of the major pathogens responsible for bactaeremia. Empirical antibiotherapy of these infections usually relies on third-generation cephalosporins (3GCs). Thus, the occurrence and epidemiology of 3GC-resistant strains have to be monitored. The French prospective multicentre study COLIBAFI collected 1081 strains of E. coli responsible for bacteraemia in 2005. In the present work, the prevalence of resistance to 3GCs was evaluated, and the implicated molecular mechanisms were characterized by specific PCR and sequencing. Phylogenetic grouping, O-typing, pulsed-field gel electrophoresis and virulence factor analysis were used to investigate the genetic background of the 3GC-resistant (3GC-R) strains. Clinical features of the patients with documented data (n = 1051) were analysed. Decreased susceptibility to 3GCs was observed in 41 strains (3.8%): 19, 18 and four had extended-spectrum ?-lactamase (ESBL), AmpC cephalosporinase and OXA-type penicillinase phenotypes, respectively. Pulsed-field gel electrophoresis revealed that the 3GC-R strains constitute a diverse population. All but one of the strains with an ESBL phenotype produced a CTX-M-type enzyme, and six of them belonged to the widespread intercontinental clone O25b:H4-ST131. AmpC phenotype strains harboured various chromosomal ampC promoter and coding region mutations and/or the bla(CMY-2) plasmidic gene. 3GC-R strains carried fewer virulence factors and were more co-resistant to other antibiotics than 3GC-susceptible (3GC-S) strains. Infections with 3GC-R strains were mostly community-acquired and, as compared with those caused by their 3GC-S counterparts, were more severe. Underlying chronic disease and prior use of antibiotics were independent risk factors for development of a 3GC-R strain bacteraemia. The fact that the molecular support of 3GC resistance is mainly plasmid-mediated represents a potentially epidemic threat. PMID:20649802

  20. Clear cell renal cell carcinoma (ccRCC) with hemangioblastoma-like features: a previously unreported pattern of ccRCC with possible clinical significance.

    PubMed

    Montironi, Rodolfo; Lopez-Beltran, Antonio; Cheng, Liang; Galosi, Andrea B; Montorsi, Francesco; Scarpelli, Marina

    2014-11-01

    The morphological features and immunohistochemical findings of two cases of clear cell renal cell carcinoma with extensive hemangioblastoma-like features are described. To the best of our knowledge, this is the first description of such a pattern, the differential diagnosis being with renal hemangioblastoma, a rare tumor that could be considered a diffuse hemangioblastoma-like change in a clear cell renal cell tumor. Even though the clinical significance and therapeutic implications are not yet known, the hemangioblastoma-like pattern could have favorable prognostic significance based on the fact that the renal hemangioblastomas described so far have benign behavior. PMID:24821578

  1. Clinical Features, Neuroimaging and Treatment of Spontaneous Intracranial Hypotension and Magnetic Resonance Imaging Evidence of Blind Epidural Blood Patch

    Microsoft Academic Search

    Chen-San Su; Min-Yu Lan; Yung-Yee Chang; Wei-Che Lin; Kuan-Ting Liu

    2009-01-01

    Background and Purpose: Spontaneous intracranial hypotension (SIH) is an uncommon, but not rare, cause of headache. We analyzed a series of patients with SIH and attempted to establish a clinical procedure. Methods: We retrospectively reviewed 11 patients with SIH who were admitted between January 2004 and May 2007. Data recorded from patients included basic data, clinical symptoms, neurological imaging studies

  2. Cerebrovascular disease in children under 16 years of age in the city of Dijon, France: A study of incidence and clinical features from 1985 to 1993

    Microsoft Academic Search

    Maurice Giroud; Martine Lemesle; Jean-Bernard Gouyon; Jean-Louis Nivelon; Chantal Milan; Raymond Dumas

    1995-01-01

    Our motivation for undertaking the present survey was to determine the incidence, the distribution, and the clinical features of ischemic and hemorrhagic strokes in children under 16 years old, in a well-defined population-based study. The survey was carried out on the population of the City of Dijon (150,000 inhabitants) from January 1, 1985 to December 31, 1993, collecting prospectively both

  3. Incidence, Clinical Features and Impact on AntiTuberculosis Treatment of AntiTuberculosis Drug Induced Liver Injury (ATLI) in China

    Microsoft Academic Search

    Penghui Shang; Yinyin Xia; Feiying Liu; Xiaomeng Wang; Yanli Yuan; Daiyu Hu; Dehua Tu; Yixin Chen; Peiyuan Deng; Shiming Cheng; Lin Zhou; Yu Ma; Lizhen Zhu; Weiwei Gao; Hongyuan Wang; Dafang Chen; Li Yang; Pingping He; Shanshan Wu; Shaowen Tang; Xiaozhen Lv; Zheng Shu; Yuan Zhang; Zhirong Yang; Yan Chen; Na Li; Feng Sun; Xiaoting Li; Yingjian He; Paul Garner; Siyan Zhan

    2011-01-01

    BackgroundAnti-tuberculosis drug induced liver injury (ATLI) is emerging as a significant threat to tuberculosis control in China, though limited data is available about the burden of ATLI at population level. This study aimed to estimate the incidence of ATLI, to better understand its clinical features, and to evaluate its impact on anti-tuberculosis (TB) treatment in China.Methodology\\/Principal FindingsIn a population-based prospective

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

    PubMed

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

    2012-10-01

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

  5. Incidence, clinical features, and prognostic impact of CALR exon 9 mutations in essential thrombocythemia and primary myelofibrosis: an experience of a single tertiary hospital in Korea.

    PubMed

    Park, Sang Hyuk; Kim, Shine Young; Lee, Sun Min; Yi, Jongyoun; Kim, In-Suk; Kim, Hyung Hoi; Chang, Chulhun Ludgerus; Lee, Eun Yup; Song, Moo-Kon; Shin, Ho-Jin; Chung, Joo Seop

    2015-03-01

    We evaluated the incidence, clinical characteristics, and prognostic impact of calreticulin (CALR) mutations in essential thrombocythemia (ET) and primary myelofibrosis (PMF) patients. In all, 48 ET and 14 PMF patients were enrolled, and the presence of CALR mutations was analyzed by direct sequencing. Patients were classified into three subgroups according to Janus kinase 2 (JAK2) V617F and CALR mutation status, and their clinical features and prognosis were compared. CALR mutations were detected in 15 (24.2%) patients, and the incidence increased to 50.0% in 30 JAK2 V617F mutation-negative cases. These included 11 patients with three known mutations (c.1092_1143del [seven cases], c.1154_1155insTTGTC [three cases], and c.1102_1135del [one case]) and 4 patients with novel mutations. ET patients carrying CALR mutation were younger, had lower white blood cell counts, and experienced less thrombosis during follow-up than those carrying JAK2 V617F mutation, while both patient groups showed similar clinical features and prognosis. In ET patients without JAK2 V617F mutation, CALR mutation did not significantly affect clinical manifestation and prognosis. In conclusion, CALR mutation analysis could be a useful diagnostic tool for ET and PMF in 50% of the cases without JAK2 V617F mutations. The prognostic impact of CALR mutations needs further investigation. PMID:25729726

  6. Clinical features and rapid viral diagnosis of human disease associated with avian influenza A H5N1 virus

    Microsoft Academic Search

    KY Yuen; PKS Chan; M Peiris; DNC Tsang; TL Que; KF Shortridge; PT Cheung; ETF Ho; R Sung; AFB Cheng

    1998-01-01

    Summary Background Human infection with an avian influenza A virus (subtype H5N1) was reported recently in Hong Kong. We describe the clinical presentation of the first 12 patients and options for rapid viral diagnosis. Methods Case notes of 12 patients with virus-culture- confirmed influenza A H5N1 infection were analysed. The clinical presentation and risk factors associated with severe disease were

  7. The diagnostic challenge of progressive pseudorheumatoid dysplasia (PPRD): a review of clinical features, radiographic features, and WISP3 mutations in 63 affected individuals.

    PubMed

    Garcia Segarra, Nuria; Mittaz, Laureane; Campos-Xavier, Ana Belinda; Bartels, Cynthia F; Tuysuz, Beyhan; Alanay, Yasemin; Cimaz, Rolando; Cormier-Daire, Valerie; Di Rocco, Maja; Duba, Hans-Christoph; Elcioglu, Nursel H; Forzano, Francesca; Hospach, Toni; Kilic, Esra; Kuemmerle-Deschner, Jasmin B; Mortier, Geert; Mrusek, Sonja; Nampoothiri, Sheela; Obersztyn, Ewa; Pauli, Richard M; Selicorni, Angelo; Tenconi, Romano; Unger, Sheila; Utine, G Eda; Wright, Michael; Zabel, Bernhard; Warman, Matthew L; Superti-Furga, Andrea; Bonafé, Luisa

    2012-08-15

    Progressive pseudorheumatoid dysplasia (PPRD) is a genetic, non-inflammatory arthropathy caused by recessive loss of function mutations in WISP3 (Wnt1-inducible signaling pathway protein 3; MIM 603400), encoding for a signaling protein. The disease is clinically silent at birth and in infancy. It manifests between the age of 3 and 6 years with joint pain and progressive joint stiffness. Affected children are referred to pediatric rheumatologists and orthopedic surgeons; however, signs of inflammation are absent and anti-inflammatory treatment is of little help. Bony enlargement at the interphalangeal joints progresses leading to camptodactyly. Spine involvement develops in late childhood and adolescence leading to short trunk with thoracolumbar kyphosis. Adult height is usually below the 3rd percentile. Radiographic signs are relatively mild. Platyspondyly develops in late childhood and can be the first clue to the diagnosis. Enlargement of the phalangeal metaphyses develops subtly and is usually recognizable by 10 years. The femoral heads are large and the acetabulum forms a distinct "lip" overriding the femoral head. There is a progressive narrowing of all articular spaces as articular cartilage is lost. Medical management of PPRD remains symptomatic and relies on pain medication. Hip joint replacement surgery in early adulthood is effective in reducing pain and maintaining mobility and can be recommended. Subsequent knee joint replacement is a further option. Mutation analysis of WISP3 allowed the confirmation of the diagnosis in 63 out of 64 typical cases in our series. Intronic mutations in WISP3 leading to splicing aberrations can be detected only in cDNA from fibroblasts and therefore a skin biopsy is indicated when genomic analysis fails to reveal mutations in individuals with otherwise typical signs and symptoms. In spite of the first symptoms appearing in early childhood, the diagnosis of PPRD is most often made only in the second decade and affected children often receive unnecessary anti-inflammatory and immunosuppressive treatments. Increasing awareness of PPRD appears to be essential to allow for a timely diagnosis. PMID:22791401

  8. Diagnosis, Clinical Features, and Self-Reported Morbidity of Strongyloides stercoralis and Hookworm Infection in a Co-Endemic Setting

    PubMed Central

    Becker, Sören L.; Sieto, Benjamin; Silué, Kigbafori D.; Adjossan, Lucas; Koné, Siaka; Hatz, Christoph; Kern, Winfried V.; N'Goran, Eliézer K.; Utzinger, Jürg

    2011-01-01

    Background Infections with Strongyloides stercoralis and other helminths represent important, yet often neglected issues in developing countries. Indeed, strongyloidiasis can be fatal, but only a few studies provide information regarding its health relevance in Africa. Moreover, clinical data on symptomatology and typical recognition patterns mainly originate from Western travel clinics. Methodology A cross-sectional epidemiological survey was carried out in a rural part of south-central Côte d'Ivoire. Stool samples from 292 randomly selected individuals were examined for intestinal helminths, using a suite of diagnostic techniques (i.e., Kato-Katz, Baermann funnel, and Koga agar plate). Participants were interviewed with a pre-tested questionnaire and clinically examined. Multivariate logistic regression analysis was done to relate perceived morbidity and clinical findings to helminth infection status. Principal Findings The prevalence of hookworm and S. stercoralis was 51.0% and 12.7%, respectively. Both infections were strongly associated with each other (adjusted odds ratio, 6.73; P<0.001) and