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Sample records for clinical features diagnosis

  1. Acromegaly: clinical features at diagnosis.

    PubMed

    Vilar, Lucio; Vilar, Clarice Freitas; Lyra, Ruy; Lyra, Raissa; Naves, Luciana A

    2017-02-01

    Acromegaly is a rare and underdiagnosed disorder caused, in more than 95% of cases, by a growth hormone (GH)-secreting pituitary adenoma. The GH hypersecretion leads to overproduction of insulin-like growth factor 1 (IGF-1) which results in a multisystem disease characterized by somatic overgrowth, multiple comorbidities, physical disfigurement, and increased mortality. This article aims to review the clinical features of acromegaly at diagnosis. Acromegaly affects both males and females equally and the average age at diagnosis ranges from 40 to 50 years (up to 5% of cases < the age 20). Due to insidious onset and slow progression, acromegaly is often diagnosed five to more than ten years after its onset. The typical coarsening of facial features include furrowing of fronthead, pronounced brow protrusion, enlargement of the nose and the ears, thickening of the lips, skin wrinkles and nasolabial folds, as well as mandibular prognathism that leads to dental malocclusion and increased interdental spacing. Excessive growth of hands and feet (predominantly due to soft tissue swelling) is present in the vast majority of acromegalic patients. Gigantism accounts for up to 5% of cases and occurs when the excess of GH becomes manifest in the young, before the epiphyseal fusion. The disease also has rheumatologic, cardiovascular, respiratory, neoplastic, neurological, and metabolic manifestations which negatively impact its prognosis and patients quality of life. Less than 15% of acromegalic patients actively seek medical attention for change in appearance or enlargement of the extremities. The presentation of acromegaly is more often related to its systemic comorbidities or to local tumor effects.

  2. Vertebral osteomyelitis: clinical features and diagnosis.

    PubMed

    Eren Gök, S; Kaptanoğlu, E; Celikbaş, A; Ergönül, O; Baykam, N; Eroğlu, M; Dokuzoğuz, B

    2014-10-01

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

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

    PubMed Central

    Kim, Jong S.

    2016-01-01

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

  4. Clinical features and diagnosis of hairy cell leukemia.

    PubMed

    Quest, Graeme R; Johnston, James B

    2015-12-01

    Significant advances in the diagnosis and treatment of hairy cell leukemia (HCL) have recently been made. Improved distinction of HCL from its mimics though clinical presentations, morphologic and immunophenotypic features, and more recently molecular biology, has highlighted marked differences in treatment response and overall prognosis between these disorders. As our understanding of the unique pathobiology of HCL has grown, exciting new avenues of treatment as well as insight into immune function have been obtained. This review provides an overview of the clinical features and diagnostic attributes of HCL, with contrast to other mature B cell lymphoproliferative disorders with overlapping features. Copyright © 2015 Elsevier Ltd. All rights reserved.

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

    PubMed

    Olupot-Olupot, Peter

    2015-03-01

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

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

    PubMed Central

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

    2013-01-01

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

  7. Chronic intestinal pseudo-obstruction: clinical features, diagnosis, and therapy.

    PubMed

    De Giorgio, Roberto; Cogliandro, Rosanna F; Barbara, Giovanni; Corinaldesi, Roberto; Stanghellini, Vincenzo

    2011-12-01

    CIPO is the very “tip of the iceberg” of functional gastrointestinal disorders, being a rare and frequently misdiagnosed condition characterized by an overall poor outcome. Diagnosis should be based on clinical features, natural history and radiologic findings. There is no cure for CIPO and management strategies include a wide array of nutritional, pharmacologic, and surgical options which are directed to minimize malnutrition, promote gut motility and reduce complications of stasis (ie, bacterial overgrowth). Pain may become so severe to necessitate major analgesic drugs. Underlying causes of secondary CIPO should be thoroughly investigated and, if detected, treated accordingly. Surgery should be indicated only in a highly selected, well characterized subset of patients, while isolated intestinal or multivisceral transplantation is a rescue therapy only in those patients with intestinal failure unsuitable for or unable to continue with TPN/HPN. Future perspectives in CIPO will be directed toward an accurate genomic/proteomic phenotying of these rare, challenging patients. Unveiling causative mechanisms of neuro-ICC-muscular abnormalities will pave the way for targeted therapeutic options for patients with CIPO.

  8. Clinical features and diagnosis of epidermolysis bullosa acquisita.

    PubMed

    Vorobyev, Artem; Ludwig, Ralf J; Schmidt, Enno

    2017-02-01

    Epidermolysis bullosa acquisita (EBA) is a rare autoimmune blistering disease of skin and mucous membranes. EBA is caused by autoantibodies against type VII collagen, which is a major component of anchoring fibrils, attaching epidermis to dermis. Binding of autoantibodies to type VII collagen leads to skin fragility and, finally, blister formation. The clinical picture of EBA is polymorphic, with several distinct phenotypes being described. Despite recent progress in understanding the pathophysiology of EBA, its diagnosis is still challenging. Areas covered: This review provides an update on the clinical manifestations and diagnostic methods of EBA. We searched PubMed using the terms 'epidermolysis bullosa acquisita' covering articles in English between 1 January 2005 and 31 May 2016. Relevant older publications were retrieved form cited literature. Expert commentary: While the clinical picture is highly variable, diagnosis relies on direct immunofluorescence (IF) microscopy of a perilesional skin biopsy. Linear deposits of IgG, IgA and/or C3 along the dermal-epidermal junction with an u-serrated pattern are diagnostic for EBA alike the detection of serum autoantibodies against type VII collagen. Several test systems for the serological diagnosis of EBA have recently become widely available. In some patients, sophisticated diagnostic approaches only available in specialized centers are required.

  9. Diagnosis and clinical features of trigemino-autonomic headaches.

    PubMed

    May, Arne

    2013-10-01

    Although severe short-lasting headaches are rare, they can be considered disabling conditions with a major impact on the quality of life of patients. These headaches can divided broadly in to those associated with autonomic symptoms, so called trigeminal autonomic cephalgias (TACs), and those with few or no autonomic symptoms. The TACs include cluster headache, paroxysmal hemicranias, hemicrania continua, and short-lasting unilateral neuralgiform headache attacks with cranial autonomic symptoms as well as short-lasting unilateral neuralgiform headache attacks with conjunctival injection and tearing syndrome. In all of these syndromes, half-sided head pain and ipsilateral cranial autonomic symptoms such as lacrimation or rhinorrhea are prominent. The paroxysmal hemicranias have, unlike cluster headaches, a very robust response to indomethacin, leading to a notion of indomethacin-sensitive headaches. The diagnosis of TACs is exclusively a clinical task. Because of the fact that cluster headache is strictly half-sided, typically involves the region around the eye and temple and often starts in the upper jaw, most patients first consult a dentist or ophthalmologist. No single instrumental examination has yet been able to define, or ensure, the correct diagnosis, or differentiate idiopathic headache syndromes. It is crucial that a trained neurologist sees these patients early so that management can be optimized and unnecessary procedures can be avoided. Although TACS are, in comparison to migraine, quite rare, they are nevertheless clinically very important for the neurologist to consider as they are easy to diagnose and the treatment is very effective in most patients.

  10. Diagnosis and clinical features of common optic neuropathies.

    PubMed

    Biousse, Valérie; Newman, Nancy J

    2016-12-01

    Disorders of the optic nerves (optic neuropathies) are some of the most common causes of visual loss, and can present in isolation or with associated neurological or systemic symptoms and signs. Several optic neuropathies-especially inflammatory optic neuropathies-are associated with neurological disorders and thus are often diagnosed and treated by neurologists. The mechanisms underlying optic neuropathies are diverse and typically manifest with decreased visual acuity, altered colour vision, and abnormal visual field in the affected eye. Diagnosis is made on the basis of clinical history and clinical examination, of which several aspects are particularly important, including the mode of onset of visual loss, the presence of pain with eye movements, the visual acuity, and the retention of colour vision. Advances in optic nerve imaging-particularly retinal digital photography, optical coherence tomography, and MRI techniques-have revolutionised the diagnosis and follow-up of patients with an optic neuropathy. Furthermore, improvement and generalisation of some ancillary tests, such as diagnostic antibodies for neuromyelitis optica, allows better phenotyping of the heterogeneous inflammatory optic neuropathies. Copyright © 2016 Elsevier Ltd. All rights reserved.

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

    PubMed Central

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

    2014-01-01

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

  12. Biotinidase deficiency: initial clinical features and rapid diagnosis.

    PubMed

    Wolf, B; Heard, G S; Weissbecker, K A; McVoy, J R; Grier, R E; Leshner, R T

    1985-11-01

    Biotinidase deficiency is the primary defect in most individuals with late-onset multiple carboxylase deficiency. We have reviewed the presenting clinical features of 31 children with the disorder. Seizures, either alone or with other neurological or cutaneous findings, are the most frequent initial symptom observed. Other neurological symptoms, such as hypotonia, ataxia, hearing loss, optic atrophy, and developmental delay, are seen, in addition to skin rash and alopecia. The disorder is also characterized by ketolactic acidosis and organic aciduria. Biotinidase activity may be diagnosed using a simple, rapid, semiquantitative colorimetric procedure. Samples of whole blood spotted on the same filter paper used by most states to screen for phenylketonuria and other inborn errors of metabolism may be sent to an appropriate reference laboratory. None of the common anticonvulsants or sedatives used to treat newborns and children interfere with the test. Because biotinidase deficiency can be treated readily with biotin, this disorder should be considered in children with infantile seizures, especially in the presence of other characteristic neurological or cutaneous features.

  13. The clinical features, diagnosis and management of recurrent thymoma.

    PubMed

    Luo, Taobo; Zhao, Hongguang; Zhou, Xinming

    2016-08-31

    Thymoma is a disease with malignant potential, which has a recurrence rate after complete resection ranging from 5 to 50 %. Multiple studies on the risk factors, treatment or prognosis have been reported. Many of them are controversial, however. In this review, we summarized some accepted risk factors, means of diagnosis and different treatments of recurrent thymoma. The risk factors of recurrent thymoma haven't been well-studied, and its management remains controversial. We reviewed the literatures and found some key points which should be noticed during the surgery of initial thymoma. Although reoperation should be taken into account preferentially, multimodal treatments are also available. The prognosis are also been discussed.

  14. Diagnosis of Fanconi anemia in children with atypical clinical features: a primary study.

    PubMed

    Liu, Rong; Hu, Tao; Li, Jun-hui; Liang, Chao; Gu, Wei-yue; Shi, Xiao-dong; Wang, Hong-xing

    2013-12-01

    Fanconi anemia is a severe congenital disorder associated with mutations in a cluster of genes responsible for DNA repair. Arriving at an accurate and timely diagnosis can be difficult in cases of Fanconi anemia with atypical clinical features. It is very important to increase the rate of accurate diagnosis for such cases in a clinical setting. The purpose of this study is to explore the clinical diagnosis of Fanconi anemia in children with atypical clinical features. Six cases of Fanconi anemia with atypical clinical features were enrolled in the study, and their clinical features were recorded, their FANCA gene transcription was assessed by RT-PCR, and FANCA mutations and the ubiquitination of FANCD2 protein were analyzed using DNA sequencing and western blotting respectively. All six cases showed atypical clinical features including no apparent deformities, lack of response to immune therapy, and progressively increasing bone marrow failure. They also have significantly increased fetal hemoglobin, negative mitomycin-induced fracture test results, and carry a FANCA gene missense mutation. Single protein ubiquitination of FANCD2 was not observed in those patients. The combination of clinical features, FANCA pathogenic gene mutation genotype and the absence of FANCD2 protein ubiquitination are helpful in the accurate and timely diagnosis of Fanconi anemia in children.

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

    PubMed Central

    Massano, João; Bhatia, Kailash P.

    2012-01-01

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

  16. Diagnosis, clinical features and treatment outcome of microsporidial keratoconjunctivitis.

    PubMed

    Das, Sujata; Sharma, Savitri; Sahu, Srikant K; Nayak, Shyam S; Kar, Sarita

    2012-06-01

    To report the clinical and microbiological profile of patients with microsporidial keratoconjunctivitis in a tertiary eye care centre in India. A retrospective analysis of medical records of all cases of microbiologically confirmed microsporidial keratoconjunctivitis, who presented between March 2007 and October 2010, was done. In a single-centre, institutional setting, 278 eyes of 277 apparently healthy patients were analysed. The mean age was 36 ± 14 years (range 6-80). The mean duration of symptoms was 7.7 ± 6.2 days (range 1-60). Keratic precipitates were present in 20.1% patients. A superficial scar was present in 39.2% patients. Majority (26.6%) of the patients reported in the month of August. Microscopic examination of corneal scraping, using potassium hydroxide with calcofluor white and Gram stain, demonstrated microsporidial spores in 98.9% and 89.7% cases, respectively. Patients received either topical 0.02% polyhexamethylene biguanide or lubricants. The mean time for resolution was 6.0 ± 2.9 days (range 2-18). Final visual acuity was ≥ 20/30 in 75.1% cases. Microsporidial keratoconjunctivitis is common in India. It is seasonal, can occur in healthy individuals and can be diagnosed using simple microbiological methods. Treatment outcome is generally satisfactory.

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

    PubMed

    Vaĭnshenker, Iu I; Nuralova, I V; Onishenko, L S

    2014-01-01

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

  18. Histopathological features predictive of a clinical diagnosis of ophthalmic granulomatosis with polyangiitis (GPA).

    PubMed

    Isa, Hazlita; Lightman, Sue; Luthert, Philip J; Rose, Geoffrey E; Verity, David H; Taylor, Simon R J

    2012-01-01

    The limited form of Granulomatosis with Polyangiitis (GPA), formerly known as Wegener's Granulomatosis (WG) primarily involves the head and neck region, including the orbit, but is often a diagnostic challenge, particularly as it commonly lacks positive anti-neutrophil cytoplasm antibody (ANCA) titres or classical features on diagnostic orbital biopsies. The purpose of this study was to relate biopsy findings with clinical outcome and to determine which histopathological features are predictive of a clinical diagnosis of GPA. Retrospective case series of 234 patients identified from the database of the UCL Institute of Ophthalmology Department of Eye Pathology as having had orbital biopsies of orbital inflammatory disorders performed between 1988 and 2009. Clinical records were obtained for the patients and analysed to see whether patients had GPA or not, according to a standard set of diagnostic criteria (excluding any histopathological findings). Biopsy features were then correlated with the clinical diagnosis in univariate and multivariate analyses to determine factors predictive of GPA. Of the 234 patients, 36 were diagnosed with GPA and 198 with other orbital pathologies. The majority of biopsies were from orbital masses (47%). Histology showed a range of acute and chronic inflammatory pictures in all biopsies, but the presence of neutrophils (P<0.001), vasculitis (P<0.001), necrosis (P<0.001), eosinophils (P<0.02) and macrophages (P=0.05) were significantly associated with a later clinical diagnosis of GPA. In a multivariate analysis, only tissue neutrophils (OR=3.6, P=0.01) and vasculitis (OR=2.6, P=0.02) were independently associated with GPA, in contrast to previous reports associating eosinophils and necrosis with the diagnosis. Neutrophil, eosinophil and macrophage infiltration of orbital tissues, together with vasculitis and necrosis, are all associated with a clinical diagnosis of GPA, but only neutrophil infiltration and vasculitis are independently

  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. PMID:26029015

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

    PubMed

    Marzuka, Alexander G; Book, Samuel E

    2015-06-01

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

  1. Knowledge of causes, clinical features and diagnosis of common zoonoses among medical practitioners in Tanzania

    PubMed Central

    John, Kunda; Kazwala, Rudovic; Mfinanga, Godfrey S

    2008-01-01

    Background Many factors have been mentioned as contributing to under-diagnosis and under-reporting of zoonotic diseases particularly in the sub-Sahara African region. These include poor disease surveillance coverage, poor diagnostic capacity, the geographical distribution of those most affected and lack of clear strategies to address the plight of zoonotic diseases. The current study investigates the knowledge of medical practitioners of zoonotic diseases as a potential contributing factor to their under-diagnosis and hence under-reporting. Methods The study was designed as a cross-sectional survey. Semi-structured open-ended questionnaire was administered to medical practitioners to establish the knowledge of anthrax, rabies, brucellosis, trypanosomiasis, echinococcosis and bovine tuberculosis in selected health facilities within urban and rural settings in Tanzania between April and May 2005. Frequency data were analyzed using likelihood ratio chi-square in Minitab version 14 to compare practitioners' knowledge of transmission, clinical features and diagnosis of the zoonoses in the two settings. For each analysis, likelihood ratio chi-square p-value of less than 0.05 was considered to be significant. Fisher's exact test was used where expected results were less than five. Results Medical practitioners in rural health facilities had poor knowledge of transmission of sleeping sickness and clinical features of anthrax and rabies in humans compared to their urban counterparts. In both areas the practitioners had poor knowledge of how echinococcosis is transmitted to humans, clinical features of echinococcosis in humans, and diagnosis of bovine tuberculosis in humans. Conclusion Knowledge of medical practitioners of zoonotic diseases could be a contributing factor to their under-diagnosis and under-reporting in Tanzania. Refresher courses on zoonotic diseases should be conducted particularly to practitioners in rural areas. More emphasis should be put on zoonotic

  2. CLINICAL FEATURES AND PATTERN OF FRACTURES AT THE TIME OF DIAGNOSIS OF OSTEOGENESIS IMPERFECTA IN CHILDREN.

    PubMed

    Brizola, Evelise; Zambrano, Marina Bauer; Pinheiro, Bruna de Souza; Vanz, Ana Paula; Félix, Têmis Maria

    2017-01-01

    To characterize the fracture pattern and the clinical history at the time of diagnosis of osteogenesis imperfecta. In this retrospective study, all patients with osteogenesis imperfecta, of both genders, aged 0-18 years, who were treated between 2002 and 2014 were included. Medical records were assessed to collect clinical data, including the presence of blue sclerae, dentinogenesis imperfecta, positive familial history of osteogenesis imperfecta, and the site of the fractures. In addition, radiographic findings at the time of the diagnosis were reviewed. Seventy-six patients (42 females) were included in the study. Individuals' age ranged from 0 to 114 months, with a median (interquartile range) age of 38 (6-96) months. Blue sclerae were present in 93.4% of patients, dentinogenesis imperfecta was observed in 27.6% of patients, and wormian bones in 29.4% of them. The number of fractures at diagnosis ranged from 0 to 17, with a median of 3 (2-8) fractures. Forty (57%) patients had fractures of the upper and lower extremities, and 9 patients also had spinal fractures. The diagnosis was performed at birth in 85.7% of patients with type 3, and 39.3% of those with type 4/5 of the disorder. Osteogenesis imperfecta is a genetic disorder with distinctive clinical features such as bone fragility, recurrent fractures, blue sclerae, and dentinogenesis imperfecta. It is important to know how to identify these characteristics in order to facilitate the diagnosis, optimize the treatment, and differentiate osteogenesis imperfecta from other disorders that also can lead to fractures.

  3. CLINICAL FEATURES AND PATTERN OF FRACTURES AT THE TIME OF DIAGNOSIS OF OSTEOGENESIS IMPERFECTA IN CHILDREN

    PubMed Central

    Brizola, Evelise; Zambrano, Marina Bauer; Pinheiro, Bruna de Souza; Vanz, Ana Paula; Félix, Têmis Maria

    2017-01-01

    ABSTRACT Objective: To characterize the fracture pattern and the clinical history at the time of diagnosis of osteogenesis imperfecta. Methods: In this retrospective study, all patients with osteogenesis imperfecta, of both genders, aged 0-18 years, who were treated between 2002 and 2014 were included. Medical records were assessed to collect clinical data, including the presence of blue sclerae, dentinogenesis imperfecta, positive familial history of osteogenesis imperfecta, and the site of the fractures. In addition, radiographic findings at the time of the diagnosis were reviewed. Results: Seventy-six patients (42 females) were included in the study. Individuals’ age ranged from 0 to 114 months, with a median (interquartile range) age of 38 (6-96) months. Blue sclerae were present in 93.4% of patients, dentinogenesis imperfecta was observed in 27.6% of patients, and wormian bones in 29.4% of them. The number of fractures at diagnosis ranged from 0 to 17, with a median of 3 (2-8) fractures. Forty (57%) patients had fractures of the upper and lower extremities, and 9 patients also had spinal fractures. The diagnosis was performed at birth in 85.7% of patients with type 3, and 39.3% of those with type 4/5 of the disorder. Conclusions: Osteogenesis imperfecta is a genetic disorder with distinctive clinical features such as bone fragility, recurrent fractures, blue sclerae, and dentinogenesis imperfecta. It is important to know how to identify these characteristics in order to facilitate the diagnosis, optimize the treatment, and differentiate osteogenesis imperfecta from other disorders that also can lead to fractures. PMID:28977334

  4. Clinical features and diagnosis of adult atopic keratoconjunctivitis and the effect of treatment with sodium cromoglycate.

    PubMed Central

    Jay, J L

    1981-01-01

    This study describes 17 cases of atopic keratoconjunctivitis in adults. In 8 cases the clinical appearances were nonspecific and sufficiently different from vernal keratoconjunctivitis to make diagnosis difficult. These atypical cases often showed a fine papillary conjunctival reaction on the upper tarsus, subconjunctival scarring, and in 1 case severe symblepharon. Corneal features included corneal microcysts, peripheral vascularisation, and various patterns of punctate epithelial keratitis. It was therefore important to establish the atopic status of the patient. A personal or family history of other atopic disease was elicited in every case, and the diagnosis was confirmed by the detection of raised serum IgE level. Uncontrolled clinical assessment suggested that 10 out of 15 patients experienced improvement in symptoms with the use of 2% sodium cromoglycate eyedrops 4 times a day. A subsequent double-masked cross-over trial comparing the same treatment with a matched placebo preparation indicated that 6 out of 9 patients preferred sodium cromoglycate while 1 preferred the placebo. Two patients noted no difference. Cases showing nonspecific or atypical clinical features responded to treatment just as frequently as did cases of typical vernal keratoconjunctivitis. Images PMID:6788069

  5. Update on Merkel Cell Carcinoma: Epidemiology, Etiopathogenesis, Clinical Features, Diagnosis, and Staging.

    PubMed

    Llombart, B; Requena, C; Cruz, J

    2017-03-01

    Merkel cell carcinoma (MCC) is a rare, highly aggressive tumor, and local or regional disease recurrence is common, as is metastasis. MCC usually develops in sun-exposed skin in patients of advanced age. Its incidence has risen 4-fold in recent decades as the population has aged and immunohistochemical techniques have led to more diagnoses. The pathogenesis of MCC remains unclear but UV radiation, immunosuppression, and the presence of Merkel cell polyomavirus in the tumor genome seem to play key roles. This review seeks to update our understanding of the epidemiology, etiology, pathogenesis, and clinical features of MCC. We also review histologic and immunohistochemical features required for diagnosis. MCC staging is discussed, given its great importance in establishing a prognosis for these patients. Copyright © 2016 AEDV. Publicado por Elsevier España, S.L.U. All rights reserved.

  6. Cardio-Facio-Cutaneous Syndrome: Clinical Features, Diagnosis, and Management Guidelines

    PubMed Central

    Magoulas, Pilar L.; Adi, Saleh; Kavamura, Maria Ines; Neri, Giovanni; Noonan, Jacqueline; Pierpont, Elizabeth I.; Reinker, Kent; Roberts, Amy E.; Shankar, Suma; Sullivan, Joseph; Wolford, Melinda; Conger, Brenda; Santa Cruz, Molly; Rauen, Katherine A.

    2014-01-01

    Cardio-facio-cutaneous syndrome (CFC) is one of the RASopathies that bears many clinical features in common with the other syndromes in this group, most notably Noonan syndrome and Costello syndrome. CFC is genetically heterogeneous and caused by gene mutations in the Ras/mitogen-activated protein kinase pathway. The major features of CFC include characteristic craniofacial dysmorphology, congenital heart disease, dermatologic abnormalities, growth retardation, and intellectual disability. It is essential that this condition be differentiated from other RASopathies, as a correct diagnosis is important for appropriate medical management and determining recurrence risk. Children and adults with CFC require multidisciplinary care from specialists, and the need for comprehensive management has been apparent to families and health care professionals caring for affected individuals. To address this need, CFC International, a nonprofit family support organization that provides a forum for information, support, and facilitation of research in basic medical and social issues affecting individuals with CFC, organized a consensus conference. Experts in multiple medical specialties provided clinical management guidelines for pediatricians and other care providers. These guidelines will assist in an accurate diagnosis of individuals with CFC, provide best practice recommendations, and facilitate long-term medical care. PMID:25180280

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

    PubMed

    Pierpont, Mary Ella M; Magoulas, Pilar L; Adi, Saleh; Kavamura, Maria Ines; Neri, Giovanni; Noonan, Jacqueline; Pierpont, Elizabeth I; Reinker, Kent; Roberts, Amy E; Shankar, Suma; Sullivan, Joseph; Wolford, Melinda; Conger, Brenda; Santa Cruz, Molly; Rauen, Katherine A

    2014-10-01

    Cardio-facio-cutaneous syndrome (CFC) is one of the RASopathies that bears many clinical features in common with the other syndromes in this group, most notably Noonan syndrome and Costello syndrome. CFC is genetically heterogeneous and caused by gene mutations in the Ras/mitogen-activated protein kinase pathway. The major features of CFC include characteristic craniofacial dysmorphology, congenital heart disease, dermatologic abnormalities, growth retardation, and intellectual disability. It is essential that this condition be differentiated from other RASopathies, as a correct diagnosis is important for appropriate medical management and determining recurrence risk. Children and adults with CFC require multidisciplinary care from specialists, and the need for comprehensive management has been apparent to families and health care professionals caring for affected individuals. To address this need, CFC International, a nonprofit family support organization that provides a forum for information, support, and facilitation of research in basic medical and social issues affecting individuals with CFC, organized a consensus conference. Experts in multiple medical specialties provided clinical management guidelines for pediatricians and other care providers. These guidelines will assist in an accurate diagnosis of individuals with CFC, provide best practice recommendations, and facilitate long-term medical care.

  8. Cutaneous manifestations of antiphospholipid syndrome: a review of the clinical features, diagnosis and management.

    PubMed

    Pinto-Almeida, Teresa; Caetano, Mónica; Sanches, Madalena; Selores, Manuela

    2013-01-01

    Antiphospholipid syndrome is a relatively recent systemic autoimmune disorder defined by thrombotic events and/or obstetric complications in the presence of persistent elevated antiphospholipid antibodies. It\\'s characterized by a wide spectrum of clinical presentations and virtually any organ system or tissue may be affected by the consequences of vascular occlusion. Diagnosis is sometimes difficult and although classification criteria have been published and revised there remain ongoing issues regarding nomenclature, expanding clinical features, laboratory tests and management and much still has to be done. Cutaneous manifestations are common and frequently the first sign of the disease. Although extremely diverse it\\'s important to know which dermatological findings should prompt consideration of antiphospholipid syndrome and the appropriate management for those patients. Much has been debated about when to consider antiphospholipid syndrome and consensus still does not exist, however in spite of being a diagnostic challenge clinicians should know when to look for antiphospholipid antibodies since an early diagnosis is important to prevent further and serious complications. In this article we focus on the cutaneous features that should raise suspicion on the presence of antiphospholipid syndrome and on the complex management of such patients. Many other dermatological signs related to this syndrome have been described in the literature but only occasionally and without consistency or statistic impact and therefore will not be considered here.

  9. Clinical, genetic, and neuroimaging features of Early Onset Alzheimer Disease: the challenges of diagnosis and treatment.

    PubMed

    Alberici, Antonella; Benussi, Alberto; Premi, Enrico; Borroni, Barbara; Padovani, Alessandro

    2014-01-01

    Early Onset Alzheimer Disease (EOAD) is a rare condition, frequently associated with genetic causes. The dissemination of genetic testing along with biomarker determinations have prompted a wider recognition of EOAD in experienced clinical settings. However, despite the great efforts in establishing the contribution of causative genes to EOAD, atypical disease presentation and clinical features still makes its diagnosis and treatment a challenge for the clinicians. This review aims to provide an extensive evaluation of literature data on EOAD, in order to improve understanding and knowledge of EOAD, underscore its significant impact on patients and their caregivers and influence public policies. This would be crucial to define the urgency of evidence-based treatment approaches.

  10. Miller Fisher Syndrome: A Case Report Highlighting Heterogeneity of Clinical Features and Focused Differential Diagnosis

    PubMed Central

    Allison, Randall Z; Kaminskas, David A; Zagorski, Natalia M; Liow, Kore K

    2016-01-01

    Miller Fisher Syndrome (MFS) is a rare variant of Guillain-Barré Syndrome (GBS) that has a geographically variable incidence. It is largely a clinical diagnosis based on the cardinal clinical features of ataxia, areflexia, and opthalmoplegia, however, other neurological signs and symptoms may also be present. Serological confirmation with the anti-GQ1b antibody is available and allows for greater diagnostic certainty in the face of confounding symptoms. A self-limiting course is typical of MFS. The following case report is that of a patient who presented with generalized weakness, somatic pain, inability to walk, and diplopia following an upper respiratory illness. The patient exhibited the classic triad of ataxia, areflexia, and opthalmoplegia characteristic of MFS, but also had less typical signs and symptoms making for a more challenging diagnostic workup. Our suspected diagnosis of MFS was serologically confirmed with positive anti-GQ1b antibody titer and the patient was successfully treated with Intravenous immune globulin (IVIG). PMID:27437164

  11. [Clinical, radiologic, pathological features and diagnosis of 14 cases with interstitial lung disease in children].

    PubMed

    2011-02-01

    The pediatric interstitial lung disease is a group of poorly understood disease entities. This study aimed to better understand the clinical features, radiological manifestations and pathological patterns of pediatric interstitial lung disease. Patients with diffuse lung disease seen in the year 2009 in 7 hospitals were studied by the Pediatric Interstitial Lung Disease Cooperative Group. Nineteen patients underwent lung biopsy, 11 cases were male, 8 were female and their age ranged from 1 year and 4 months to 13 years. Respiratory tract secretions were obtained for bacterial culture, respiratory virus antigen examination, mycoplasma antibody, EB virus, cytomegalovirus, and herpes simplex viruses antibody detection were performed. The CT or HRCT of the lung and blood-gas analysis and lung biopsy were performed for all the patients. One case underwent open lung biopsy, two cases received percutaneous biopsy, and other 16 cases were experienced video-assisted thoracoscopic biopsy. Five cases had been excluded, for one case had fungal infection, one had abnormal pneumoangiogram, one had sclerosing hemangioma, and two had no sufficient data. The remaining 14 cases were included into the analysis. All the 14 cases had cough, 12 of them also had tachypnoea, four cases had rales and five had clubbing. High resolution CT showed that 12 cases had ground-glass opacification, 1 had diffuse micronodular opacities, the pathological pattern of this case was pulmonary alveolar microlithiasis, and in the case of diffuse reticulonodular opacities and cysts, the pathology of the lung was NSIP. All the 14 cases had the proof of the diagnosis or the type of the pathology. Four cases were diagnosed by pathology of the lung, including 1 case of pulmonary alveolar microlithiasis, 2 cases of pulmonary alveolar proteinosis, 1 case of lipoid pneumonia. Clinical-radiologic-pathologic (C-R-P) diagnosis of the other 10 cases were as follows: 4 cases had secondary interstitial lung disease, one

  12. Celiac disease in Saudi children. Evaluation of clinical features and diagnosis.

    PubMed

    Saeed, Anjum; Assiri, Asaad; Assiri, Hebah; Ullah, Anhar; Rashid, Mohsin

    2017-09-01

     Objectives: To characterize the clinical presentations and diagnosis including serological tests and histopathological findings in children with celiac disease. Methods: All children (less than 18 years) with confirmed celiac disease diagnosed over a 6 year period at a private tertiary care health care center in Riyadh,  Saudi Arabia were studied retrospectively. Information collected included demographics, clinical presentation and diagnostic modalities with serology and small intestinal histology reported by Marsh grading. Results: A total of 59 children had confirmed celiac disease. Thirty (50.8%) were male. Median age was 8 years (range 1 to 16 years). The mean duration of symptoms before diagnosis was 2.3 (±1.5) years. Classical disease was present only in 30.5%, whereas 69.5% had either non-classical presentations or belonged to high risk groups for celiac disease such as those with type-1 diabetes, autoimmune thyroiditis, Down syndrome and siblings. Failure to thrive was the most common presentation followed by short stature, abdominal pain and chronic diarrhea. Anti-tissue transglutaminase antibody was positive in 91.5%, and titers were no different between those with classical and non-classical disease. All had Marsh-graded biopsy findings consistent with celiac disease. Conclusion: Children with celiac disease usually present with non-classical features. A high index of suspicion needs to be maintained to consider this disorder in the diagnostic workup of pediatric patients. High risk group should be screened early to avoid complications associated with untreated celiac disease.

  13. Murray Valley encephalitis: a review of clinical features, diagnosis and treatment.

    PubMed

    Knox, James; Cowan, Raquel U; Doyle, Joseph S; Ligtermoet, Matthew K; Archer, John S; Burrow, James N C; Tong, Steven Y C; Currie, Bart J; Mackenzie, John S; Smith, David W; Catton, Mike; Moran, Rodney J; Aboltins, Craig A; Richards, Jack S

    2012-03-19

    Murray Valley encephalitis virus (MVEV) is a mosquito-borne virus that is found across Australia, Papua New Guinea and Irian Jaya. MVEV is endemic to northern Australia and causes occasional outbreaks across south-eastern Australia. 2011 saw a dramatic increase in MVEV activity in endemic regions and the re-emergence of MVEV in south-eastern Australia. This followed significant regional flooding and increased numbers of the main mosquito vector, Culex annulirostris, and was evident from the widespread seroconversion of sentinel chickens, fatalities among horses and several cases in humans, resulting in at least three deaths. The last major outbreak in Australia was in 1974, during which 58 cases were identified and the mortality rate was about 20%. With the potential for a further outbreak of MVEV in the 2011-2012 summer and following autumn, we highlight the importance of this disease, its clinical characteristics and radiological and laboratory features. We present a suspected but unproven case of MVEV infection to illustrate some of the challenges in clinical management. It remains difficult to establish an early diagnosis of MVEV infection, and there is a lack of proven therapeutic options.

  14. Brucella canis endophthalmitis in 3 dogs: clinical features, diagnosis, and treatment.

    PubMed

    Ledbetter, Eric C; Landry, Matthew P; Stokol, Tracy; Kern, Thomas J; Messick, Joanne B

    2009-01-01

    To describe historical, clinical and diagnostic features of dogs with Brucella canis endophthalmitis and the response to medical therapy. Three dogs with naturally acquired B. canis endophthalmitis. Dogs were treated symptomatically with topical ophthalmic anti-inflammatories and a novel antimicrobial protocol that included doxycycline, enrofloxacin, rifampin and streptomycin. All dogs presented with chronic or recurrent uveitis in the absence of overt systemic disease. Clinical ophthalmologic abnormalities were unilateral in each dog and included mild-to-moderate anterior uveitis, iris hyperpigmentation, marked vitreal infiltrates, and multifocal chorioretinitis. Dogs were diagnosed with canine brucellosis serologically and by blood culture (n = 2 dogs) or polymerase chain reaction of aqueous humor and blood (n = 1 dog). Active ocular inflammation resolved in all dogs during treatment, with preservation of vision in 2 dogs. Following treatment, B. canis could not be cultured from blood samples and serological values declined with seronegativity achieved in all dogs after a median of 96 weeks (range: 36-112 weeks) of therapy. Brucella canis infection should be included in the differential diagnosis for dogs with intraocular inflammation, regardless of previous history or neuter status. This is the first report of apparently successful medical therapy of canine brucellosis with ocular involvement.

  15. HIV-associated tuberculosis in developing countries: clinical features, diagnosis, and treatment.

    PubMed Central

    Raviglione, M. C.; Narain, J. P.; Kochi, A.

    1992-01-01

    This article reviews the clinical aspects and diagnosis of HIV-associated tuberculosis in developing countries, and summarizes WHO's recommendations for treatment. According to WHO estimates (early 1992) over 4 million persons worldwide have been infected with HIV and tuberculosis; 95% of them are in the developing countries. Clinical features of HIV-associated pulmonary tuberculosis in adults are frequently atypical, particularly in the late stage of HIV infection, with non-cavitary disease, lower lobe infiltrates, hilar lymphadenopathy and pleural effusion. More typical post-primary tuberculosis with upper lobe infiltrates and cavitations is seen in the earlier stages of HIV infection. Extrapulmonary tuberculosis is reported more frequently, despite the difficulties in diagnosing it. WHO's recent guidelines recommend 6-month short-course chemotherapy with isoniazid, rifampicin, pyrazinamide and ethambutol for patients with HIV-associated tuberculosis. The older 12-month regimen without rifampicin is much less effective. Streptomycin should not be used, because of the risk of transmitting blood-borne pathogens through contaminated needles. Thioacetazone should be abandoned, because of severe adverse reactions observed among HIV-infected patients. The roles of preventive chemotherapy and BCG vaccination for prevention of tuberculosis are also briefly discussed. PMID:1394786

  16. Autoimmune Subepidermal Bullous Diseases of the Skin and Mucosae: Clinical Features, Diagnosis, and Management.

    PubMed

    Amber, Kyle T; Murrell, Dedee F; Schmidt, Enno; Joly, Pascal; Borradori, Luca

    2017-08-04

    Autoimmune subepidermal blistering diseases of the skin and mucosae constitute a large group of sometimes devastating diseases, encompassing bullous pemphigoid, gestational pemphigoid, mucous membrane pemphigoid, epidermolysis bullosa acquisita, and anti-p200 pemphigoid. Their clinical presentation is polymorphic. These autoimmune blistering diseases are associated with autoantibodies that target distinct components of the basement membrane zone of stratified epithelia. These autoantigens represent structural proteins important for maintenance of dermo-epidermal integrity. Bullous pemphigoid (BP) is the most common subepidermal autoimmune blistering disease of the skin and mucosae. Although the disease typically presents with a generalized blistering eruption associated with itch, atypical variants with either localized bullous lesions or "non-bullous" presentations are observed in approximately 20% of patients. A peculiar form of BP typically associated with pregnancy is pemphigoid gestationis. In anti-p200 pemphigoid, patients present with tense blisters on erythematosus or normal skin resembling BP, with a predilection for acral surfaces. These patients have antibodies targeting the 200-kDa basement membrane protein. Epidermolysis bullosa is a rare autoimmune blistering disease associated with autoantibodies against type VII collagen that can have several phenotypes including a classical form mimicking dystrophic epidermolysis bullosa, an inflammatory presentation mimicking BP, or mucous membrane pemphigoid-like lesions. Mucous membrane pemphigoid (MMP) is the term agreed upon by international consensus for an autoimmune blistering disorder, which affects one or more mucous membrane and may involve the skin. The condition involves a number of different autoantigens in the basement membrane zone. It may result in severe complications from scarring, such as blindness and strictures. Diagnosis of these diseases relies on direct immunofluorescence microscopy studies

  17. Uncommon non-Hodgkin lymphomas of childhood: pathological diagnosis, clinical features and treatment approaches.

    PubMed

    Sandlund, John T; Perkins, Sherrie L

    2015-06-01

    We provide a review of the pathological and clinical features for uncommon B-cell and T-cell lymphomas of childhood with a specific focus on advances in treatment approaches and outcomes. There is clearly a need for prospective investigation of both the clinical and biological features of the uncommon non-Hodgkin lymphoma subtypes in childhood. These results should lead to more uniform and more effective treatment approaches.

  18. Clinical features for diagnosis and management of patients with PRDM12 congenital insensitivity to pain

    PubMed Central

    Zhang, Stella; Malik Sharif, Saghira; Chen, Ya-Chun; Valente, Enza-Maria; Ahmed, Mushtaq; Sheridan, Eamonn; Bennett, Christopher; Woods, Geoffrey

    2016-01-01

    Background Congenital insensitivity to pain (CIP) is a rare extreme phenotype characterised by an inability to perceive pain present from birth due to lack of, or malfunction of, nociceptors. PRDM12 has recently been identified as a new gene that can cause CIP. The full phenotype and natural history have not yet been reported. Methods We have ascertained five adult patients and report their clinical features. Results Based on our findings, and those of previous patients, we describe the natural history of the PRDM12-CIP disorder, and derive diagnostic and management features to guide the clinical management of patients. Conclusions PRDM12-CIP is a distinct and diagnosable disorder, and requires specific clinical management to minimise predictable complications. PMID:26975306

  19. Solitary rectal ulcer syndrome: clinical features, pathophysiology, diagnosis and treatment strategies.

    PubMed

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

    2014-01-21

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

  20. Early Clinical Features in Systemic Lupus Erythematosus: Can They Be Used to Achieve Earlier Diagnosis? A Risk Prediction Model.

    PubMed

    Rees, Frances; Doherty, Michael; Lanyon, Peter; Davenport, Graham; Riley, Richard D; Zhang, Weiya; Grainge, Matthew J

    2017-06-01

    To compare the primary care consulting behavior, prior to diagnosis, of people with systemic lupus erythematosus (SLE) with controls, and to develop and validate a risk prediction model to aid earlier SLE diagnosis. We included a total of 1,739 incident SLE cases practice-matched to 6,956 controls from the UK Clinical Practice Research Datalink. Using logistic regression, odds ratios were calculated for age, sex, consultation rates, selected presenting clinical features, and previous diagnoses in the 5 years preceding diagnosis date. A risk prediction model was developed from pre-selected variables using backward stepwise logistic regression. Model discrimination and calibration were tested in an independent validation cohort of 1,831,747 patients. People with SLE had a significantly higher consultation rate than controls (median 9.2 versus 3.8 per year), which was in part attributable to clinical features that occur in SLE. The final risk prediction model included the variables age, sex, consultation rate, arthralgia or arthritis, rash, alopecia, sicca, Raynaud's phenomenon, serositis, and fatigue. The model discrimination and calibration in the validation sample was good (receiver operating characteristic curve 0.75, 95% confidence interval 0.73, 0.78). However, absolute risk predictions for SLE were typically less than 1% due to the rare nature of SLE. People with SLE consult their general practitioner more frequently and with clinical features attributable to SLE in the 5 years preceding diagnosis, suggesting that there are potential opportunities to reduce diagnostic delay in primary care. A risk prediction model was developed and validated that may be used to identify people at risk of SLE in future clinical practice. © 2016, American College of Rheumatology.

  1. [Clinical features and molecular diagnosis of three patients with DiGeorge anomaly].

    PubMed

    Sun, Jin-qiao; Wang, Lai-shuan; Qi, Chun-hua; Ying, Wen-jing; Guo, Xiao-hong; Liu, Dan-ru; Hui, Xiao-ying; Liu, Fang; Cao, Yun; Luo, Fei-hong; Wang, Xiao-chuan

    2012-12-01

    To investigate the clinical features and molecular diagnostic methods of three patients with DiGeorge anomaly. The clinical manifestations and immunological features of the three cases with DiGeorge anomaly were analyzed. We detected the chromosome 22q11.2 gene deletion by fluorescence in situ hybridization (FISH). (1) CLINICAL MANIFESTATIONS: All three cases had varying degrees of infection, congenital heart disease and small thymus by imaging; two cases had significant hypocalcemia (1.11 mmol/L and 1.22 mmol/L, respectively), accompanied by convulsions; only 1 case had cleft palate and all had no significant facial deformity. (2) Immunological characteristics: All three cases had varying degrees of T-cell immune function defects (percentage of T lymphocytes was 24% - 43%, absolute count was 309 - 803/µl), and levels of immunoglobulin G, A, M, and percent of B lymphocytes and absolute count were normal. (3) Detection of the chromosome 22q11.2 gene deletion: 400 cells of each case were detected. All cells showed two green and one red hybridization signal, indicating the presence of gene deletions in chromosome 22q11.2. (4) OUTCOME: All three cases were treated with thymosin, and appropriate clinical intervention for cardiac malformations, hypocalcemia, and were followed-up for 4 - 18 months, the prognosis was good. DiGeorge anomaly showed diverse clinical manifestations. We should consider the disease if patients had congenital heart disease, thymic hypoplasia, hypocalcemia and/or impaired immune function. FISH for detecting chromosome 22q11.2 gene deletion can be used as accurate and rapid diagnostic method. Thymosin treatment and other clinical intervention may help to improve the prognosis of patients with partial DiGeorge anomaly.

  2. Correlations between histopathological diagnosis of chemotherapy-induced hepatic injury, clinical features, and perioperative morbidity.

    PubMed

    Pilgrim, Charles H C; Satgunaseelan, Laveniya; Pham, Alan; Murray, William; Link, Emma; Smith, Marty; Usatoff, Val; Evans, Peter M; Banting, Simon; Thomson, Benjamin N; Phillips, Wayne A; Michael, Michael

    2012-05-01

    Chemotherapy has in some series been linked with increased morbidity after a hepatectomy. Hepatic injuries may result from the treatment with chemotherapy, but can also be secondary to co-morbid diseases. The aim of the present study was to draw correlations between clinical features, treatment with chemotherapy and injury phenotypes and assess the impact of each upon perioperative morbidity. Retrospective samples (n= 232) were scored grading steatosis, steatohepatitis and sinusoidal injury (SI). Clinical data were retrieved from medical records. Correlations were drawn between injury, clinical features and perioperative morbidity. Injury rates were 18%, 4% and 19% for steatosis, steatohepatitis and SI, respectively. High-grade steatosis was more common in patients with diabetes [odds ratio (OR) = 3.33, P= 0.01] and patients with a higher weight (OR/kg = 1.04, P= 0.02). Steatohepatitis was increased with metabolic syndrome (OR = 5.88, P= 0.02). Chemotherapy overall demonstrated a trend towards an approximately doubled risk of high-grade steatosis and steatohepatitis although not affecting SI. However, pre-operative chemotherapy was associated with an increased SI (OR = 2.18, P= 0.05). Operative morbidity was not increased with chemotherapy, but was increased with steatosis (OR = 2.38, P= 0.02). Diabetes and higher weight significantly increased the risk of steatosis, whereas metabolic syndrome significantly increased risk of steatohepatitis. The presence of high-grade steatosis increases perioperative morbidity, not administration of chemotherapy per se. © 2012 International Hepato-Pancreato-Biliary Association.

  3. Congenital cytomegalovirus infection in pregnancy: a review of prevalence, clinical features, diagnosis and prevention.

    PubMed

    Naing, Zin W; Scott, Gillian M; Shand, Antonia; Hamilton, Stuart T; van Zuylen, Wendy J; Basha, James; Hall, Beverly; Craig, Maria E; Rawlinson, William D

    2016-02-01

    Human cytomegalovirus (CMV) is under-recognised, despite being the leading infectious cause of congenital malformation, affecting ~0.3% of Australian live births. Approximately 11% of infants born with congenital CMV infection are symptomatic, resulting in clinical manifestations, including jaundice, hepatosplenomegaly, petechiae, microcephaly, intrauterine growth restriction and death. Congenital CMV infection may cause severe long-term sequelae, including progressive sensorineural hearing loss and developmental delay in 40-58% of symptomatic neonates, and ~14% of initially asymptomatic infected neonates. Up to 50% of maternal CMV infections have nonspecific clinical manifestations, and most remain undetected unless specific serological testing is undertaken. The combination of serology tests for CMV-specific IgM, IgG and IgG avidity provide improved distinction between primary and secondary maternal infections. In pregnancies with confirmed primary maternal CMV infection, amniocentesis with CMV-PCR performed on amniotic fluid, undertaken after 21-22 weeks gestation, may determine whether maternofetal virus transmission has occurred. Ultrasound and, to a lesser extent, magnetic resonance imaging are valuable tools to assess fetal structural and growth abnormalities, although the absence of fetal abnormalities does not exclude fetal damage. Diagnosis of congenital CMV infection at birth or in the first 3 weeks of an infant's life is crucial, as this should prompt interventions for prevention of delayed-onset hearing loss and neurodevelopmental delay in affected infants. Prevention strategies should also target mothers because increased awareness and hygiene measures may reduce maternal infection. Recognition of the importance of CMV in pregnancy and in neonates is increasingly needed, particularly as therapeutic and preventive interventions expand for this serious problem.

  4. Clinical features of early-stage nonhydropic mole for diagnosis of persistent trophoblastic disease.

    PubMed

    Miyoshi, Junya; Ohba, Takashi; Fukunaga, Masaharu; Katabuchi, Hidetaka

    2011-10-01

    To characterize the clinical features of "nonhydropic" hydatidiform mole and to investigate regression of serum human chorionic gonadotropin (hCG) as an aid in detecting persistent trophoblastic disease after nonhydropic hydatidiform mole. Our study included women with histologically diagnosed nonhydropic molar pregnancies. Women did not exhibit macroscopic or characteristic ultrasonographic appearances specific to hydatidiform mole. Regression of serum hCG levels was compared with abortions of nonmolar pregnancies, which were histologically confirmed. Among 34 nonhydropic molar pregnancies, 32 complete hydatidiform moles were analyzed, excluding two partial hydatidiform moles. Compared with nonmolar aborted pregnancies, pre-evacuation hCG levels were significantly higher in the 32 complete hydatidiform moles. The 32 molar pregnancies progressed to 24 cases of spontaneous remission and eight cases of persistent trophoblastic disease. Among patients with spontaneous remission, the time at which serum hCG levels became undetectable and the onset of first postabortion menstruation were similar to those in patients who had nonmolar abortions. In all patients who experienced regression, serum hCG was undetectable after the third postabortion menstruation. In all patients with persistent trophoblastic disease, serum hCG levels exceeded 25 milli-international units/mL 4 weeks after evacuation. Without histological confirmation, it is difficult to diagnose nonhydropic molar pregnancy based solely on clinical presentation. Follow-up studies of serum hCG levels 4 weeks after abortion and after the third postabortion menstruation may aid in detecting impending persistent trophoblastic disease. II.

  5. Clinical features of actinomycosis

    PubMed Central

    Bonnefond, Simon; Catroux, Mélanie; Melenotte, Cléa; Karkowski, Ludovic; Rolland, Ludivine; Trouillier, Sébastien; Raffray, Loic

    2016-01-01

    Abstract Actinomycosis is a rare heterogeneous anaerobic infection with misleading clinical presentations that delay diagnosis. A significant number of misdiagnosed cases have been reported in specific localizations, but studies including various forms of actinomycosis have rarely been published. We performed a multicenter retrospective chart review of laboratory-confirmed actinomycosis cases from January 2000 until January 2014. We described clinical characteristics, diagnostic procedures, differential diagnosis, and management of actinomycosis of clinical significance. Twenty-eight patients were included from 6 hospitals in France. Disease was diagnosed predominately in the abdomen/pelvis (n = 9), orocervicofacial (n = 5), cardiothoracic (n = 5), skeletal (n = 3), hematogenous (n = 3), soft tissue (n = 2), and intracranially (n = 1). Four patients (14%) were immunocompromised. In most cases (92 %), the diagnosis of actinomycosis was not suspected on admission, as clinical features were not specific. Diagnosis was obtained from either microbiology (50%, n = 14) or histopathology (42%, n = 12), or from both methods (7%, n = 2). Surgical biopsy was needed for definite diagnosis in 71% of cases (n = 20). Coinfection was found in 13 patients (46%), among which 3 patients were diagnosed from histologic criteria only. Two-thirds of patients were treated with amoxicillin. Median duration of antibiotics was 120 days (interquartile range 60–180), whereas the median follow-up time was 12 months (interquartile range 5.25–18). Two patients died. This study highlights the distinct and miscellaneous patterns of actinomycosis to prompt accurate diagnosis and earlier treatments, thus improving the outcome. Surgical biopsy should be performed when possible while raising histologist's and microbiologist's awareness of possible actinomycosis to enhance the chance of diagnosis and use specific molecular methods. PMID:27311002

  6. Atypical clinical features of children with central nervous system tumor: Delayed diagnosis and switch in handedness.

    PubMed

    Yokoi, Kentaro; Yamaoka, Masayoshi; Miyata, Ichiro; Nonaka, Yuichiro; Yuza, Yuki; Kawata, Shoko; Akiyama, Masaharu; Yanagisawa, Takaaki; Ida, Hiroyuki

    2016-09-01

    Herein is described the cases of three children with central nervous system (CNS) tumor, who had switch in handedness occurring before diagnostic confirmation. Although the onset, age, tumor location, and histology were heterogeneous, the diagnosis of CNS tumor was delayed in all three patients. The present experience indicates that switch in handedness should be recognized as a sign of CNS tumor in pediatric patients, and which might prevent delay in diagnosis. Pediatricians should carefully examine such patients who present with some suggestive symptoms of CNS tumor, even when they are unusual, in order to make a timely and appropriate diagnosis. © 2016 Japan Pediatric Society.

  7. Cushing’s disease: a multidisciplinary overview of the clinical features, diagnosis, and treatment

    PubMed Central

    Buliman, A; Tataranu, LG; Paun, DL; Mirica, A; Dumitrache, C

    2016-01-01

    Cushing’s disease is considered a rare condition characterized by the hypersecretion of the adrenocorticotropic hormone (ACTH) due to a pituitary adenoma that ultimately causes endogenous hypercortisolism by stimulating the adrenal glands. The clinical signs suggesting Cushing’s disease, such as obesity, moon face, hirsutism, and facial plethora are already present on presentation. Endogenous hypercortisolism is associated with an increased risk of cardiovascular and metabolic manifestations, as well as respiratory disorders, psychiatric complications, osteoporosis and infections, leading to high rates of morbidity and mortality. It is vital to diagnose Cushing’s disease as early as possible and to implement a treatment plan to lead to a successful prognosis and a low number of complications. The goal of this article was to review the clinical, diagnostic and treatment aspects of Cushing’s disease using the most recent available guidelines. PMID:27974908

  8. Cushing's disease: a multidisciplinary overview of the clinical features, diagnosis, and treatment.

    PubMed

    Buliman, A; Tataranu, L G; Paun, D L; Mirica, A; Dumitrache, C

    2016-01-01

    Cushing's disease is considered a rare condition characterized by the hypersecretion of the adrenocorticotropic hormone (ACTH) due to a pituitary adenoma that ultimately causes endogenous hypercortisolism by stimulating the adrenal glands. The clinical signs suggesting Cushing's disease, such as obesity, moon face, hirsutism, and facial plethora are already present on presentation. Endogenous hypercortisolism is associated with an increased risk of cardiovascular and metabolic manifestations, as well as respiratory disorders, psychiatric complications, osteoporosis and infections, leading to high rates of morbidity and mortality. It is vital to diagnose Cushing's disease as early as possible and to implement a treatment plan to lead to a successful prognosis and a low number of complications. The goal of this article was to review the clinical, diagnostic and treatment aspects of Cushing's disease using the most recent available guidelines.

  9. The effect of sociodemographic and clinical features on mortality in patients with diagnosis of aspiration pneumonia

    PubMed Central

    Ozer, Mehmet Nuri; Uzunlulu, Mehmet; Oguz, Aytekin; Kostek, Osman; Akyer, Erdal; Takir, Mumtaz

    2015-01-01

    OBJECTIVE: The aim of this study was to evaluate the sociodemographic and clinical chracteristics of patients hospitalized with aspiration pneumonia in internal medicine clinics, and to determine the incidence and parameters of mortality among these patients. METHODS: Patients over the age of 18 years who were hospitalized in clinics of internal medicine between January 1, 2010 and January 1, 2013 (115 male, 89 female; mean age: 77±13 years; patients aged 65 years and over, 88.2%; average duration of hospitalization, 11±9 days) were evaluated retrospectively and consecutively. The incidence of mortality, nutritional status at admission, comorbidity frequency, haematological and biochemical data and their relationship with mortality were evaluated. RESULTS: At admission, 85% of the patients were fed through oral route, while 15% of them were fed through PEG. There was no relation between nutritional status of the patients (oral, nasogastric tube or PEG) at admission, and development of aspiration pneumonia. Commonly seen comorbidities were dementia (49%), hypertension (43%), cerebrovascular accident (42%), and diabetes mellitus (31%) respectively. The mortality rate was 24.5% (in first three days, 56%). A correlation was found between mortality and increase in neutrophil/lymphocyte ratio (NLR) and increased uric acid rate (for both p<0.05). CONCLUSION: In this study, the mortality rates among patients diagnosed with aspiration pneumonia was found to be increased. The high number of geriatric patients and comorbidities might have played a role in this situation. Neutrophil/lymphocyte ratio (NLR) and uric acid levels in patients with aspiration pneumonia might be evaluated as factors related to mortality. PMID:28058338

  10. Clinical Features, Diagnosis, and Management of Patients With Anderson-Fabry Cardiomyopathy.

    PubMed

    Yogasundaram, Haran; Kim, Daniel; Oudit, Omar; Thompson, Richard B; Weidemann, Frank; Oudit, Gavin Y

    2017-07-01

    Anderson-Fabry disease (AFD) is an X-linked recessive, multisystem disease of lysosomal storage. A mutation in the gene encoding the hydrolase enzyme α-galactosidase A results in its deficiency, or complete absence of activity. Subsequent progressive intracellular accumulation of glycosphingolipids, predominantly globotriaosylceramide, in various tissues, results in progressive organ dysfunction and failure, most commonly affecting the kidneys, nervous system, skin, eyes, vascular endothelium, and the heart. Cardiac involvement in AFD represents a leading cause of morbidity and mortality. Globotriaosylceramide accumulation affects cardiomyocytes, smooth muscle cells, vascular endothelial cells, and fibroblasts leading to various pathologies including valvular regurgitation, conduction disease and arrhythmias, coronary microvascular dysfunction, and right and left ventricular hypertrophy (LVH) leading to early diastolic dysfunction and late-stage systolic impairment. Diagnosis is on the basis of decreased plasma α-galactosidase activity in men and positive genetic testing in women. Contemporary large-scale screening studies have revealed a prevalence of 1%-5% in patients with unexplained LVH in multiple cohorts. Cardiac magnetic resonance imaging, with its unique tissue characterization capabilities, is the most important imaging modality to assess for cardiomyopathy in patients with AFD. Enzyme replacement therapy is indicated in AFD patients with significant organ involvement, and has been shown to clear sphingolipids from endothelial cells in other organs, as well as to reduce left ventricular mass as early as 6 months after starting treatment. There is increasing evidence that enzyme replacement therapy might be more effective if given at earlier stages of disease, before the development of LVH and myocardial fibrosis. Copyright © 2017 Canadian Cardiovascular Society. Published by Elsevier Inc. All rights reserved.

  11. Congenital hypothyroidism with eutopic thyroid gland: analysis of clinical and biochemical features at diagnosis and after re-evaluation.

    PubMed

    Rabbiosi, Sarah; Vigone, Maria Cristina; Cortinovis, Francesca; Zamproni, Ilaria; Fugazzola, Laura; Persani, Luca; Corbetta, Carlo; Chiumello, Giuseppe; Weber, Giovanna

    2013-04-01

    In recent years changes in screening strategies for congenital hypothyroidism (CH) led to an increased detection of mild forms of CH, associated with eutopic thyroid gland. We aimed to determine the clinical evolution of CH with eutopic thyroid gland and to find out prognostic factors at diagnosis and follow-up. We retrospectively analyzed a group of 84 children with CH and eutopic thyroid gland treated at our institution. They all underwent clinical re-evaluation after the age of 3, based on thyroid function testing after l-thyroxine therapy withdrawal, thyroid ultrasonography, and (123)I scintigraphy with perchlorate discharge test. Genetic analysis was performed in selected cases. At re-evaluation, 34.5% of patients showed permanent hypothyroidism and needed l-thyroxine reintroduction, 27.4% had persistent hyperthyrotropinemia (TSH 5-10 mU/L), and 38.1% had transient hypothyroidism. Major risk factors for permanent CH were prematurity, first-degree familial history of goiter/nodules, thyroid hypoplasia at diagnosis, and high l-thyroxine requirements at follow-up. Iodine organification defects were found in 29.7% of patients, 30% of whom harbored DUOX2 mutations. TSH receptor gene mutations were found in 8.7% of patients with persistent thyroid dysfunction and negative perchlorate discharge test. Only one-third of patients with CH and eutopic thyroid gland needed to continue l-thyroxine therapy after re-evaluation. A frequent finding was the persistence of mild hyperthyrotropinemia. The evolution of CH remains difficult to predict, although different clinical features might suggest different outcomes. Mutations in the genes commonly linked to mild forms of CH were documented in a minority of cases.

  12. [Clinical features in the diagnosis and treatment of ankle fracture with Wagsaffe fragment].

    PubMed

    Liu, Zhongyu; Xin, Jingyi; Liang, Jun

    2014-02-25

    To explore the methods in the diagnosis and treatment of ankle fracture with Wagsaffe fragment. Among 1 201 patients, there were 18 cases of concurrent Wagstaffe fractures at our hospital between January 2009 to January 2012. There were 11 males and 7 females with an average of 37.4 (17-54) years. The causes of injuries were fall (n = 10), sports-related injury (n = 4), traffic injury (n = 3) and high-altitude fall (n = 1). All of them had lateral malleolar fracture. Other injuries included internal malleolar fracture (n = 16), posterior malleolar fracture (n = 8) and disruption of medial deltoid ligament (n = 3). According to the Lauge-Hansen system, all fractures were of supination-external rotation type. The fractures of fibula and Wagstaffe were explored through an anterolateral approach. The lateral malleolar fracture was fixed with plate While Wagstaffe fragment secured with lag screw or thread. Disrupted anterior tibiofibular ligament was restored. Other treatments included open reduction and internal fixation of medial and posterior malleolus, repair of medial deltoid ligament and screw fixation of disrupted tibiofibular syndesmosis. Ankle function was evaluated by the Baird-Jackson criteria. Wagstaffe fracture occurred at a rate of 1.5% in ankle fractures. Wagstaffe fracture was found in 4.4% of ankle fracture of supination-external rotation type. Seventeen patients were followed up over an average follow-up period of 16.8 (12-25) months. All radiographs showed union of all fractures and normal mortise. Baird-Jackson ankle functional score was from 81 to 99. In all 17 patients, 9 were rated as excellent, 5 as good and 3 as fair. The excellent and good rate was 87.4%. At the latest follow-up, 14 patients resumed their preinjury activities. As an easily misdiagnosed condition, Wagstaffe fracture is associated with ankle diastase and prone to occur in ankle fracture of supination-external rotation type. Accurate reduction and stable fixation facilitate the

  13. Insomnia, parasomnias, and narcolepsy in children: clinical features, diagnosis, and management.

    PubMed

    Maski, Kiran; Owens, Judith A

    2016-10-01

    Sleep problems are frequently encountered as presenting complaints in child neurology clinical practice. They can affect the functioning and quality of life of children, particularly those with primary neurological and neurodevelopmental disorders, since coexisting sleep problems can add substantially to neurocognitive and behavioural comorbidities. Additionally, symptoms of some sleep disorders such as parasomnias and narcolepsy can be confused with those of other neurological disorders (eg, epilepsy), posing diagnostic challenges for paediatric neurologists. The understanding of the neurophysiology of sleep disorders such as insomnia, parasomnias, and narcolepsy is still evolving. There is a complex relation between the sleeping brain and its waking function. The interplay among genetic factors, alterations in neurotransmitters, electrophysiological changes, and environmental factors potentially contribute to the genesis of these sleep disorders.

  14. [Molecular genetic diagnosis and clinical features of hereditary neuropathy with liability to pressure palsies in Belarusian patients].

    PubMed

    Asadchuk, T V; Rumiantseva, N V; Naumchik, I V; Likhachev, S A; Pleshko, I V; Shalkevich, L V; Jevneronok, I V; Kachan, J P

    2016-01-01

    To analyze the molecular defect, a phenotype of hereditary neuropathy with liability to pressure palsies (HNPP, OMIM 162500), in patients with PMP22 gene mutation caused by 1.5 Mb deletion at 17p11.2. and present the principles of diagnosis and genetic counselling. Patients were selected on the basis of the results of the clinical/genealogical analysis, neurological examination and ENMG study. Genomic DNA was isolated from peripheral blood leukocytes. DNA diagnosis was performed in 5 families (the PMP22 deletion was found in 9 patients). The authors described clinical and electrophysiological characteristics and presented a diagnostic protocol. Identification of the mutation makes it possible to confirm the clinical diagnosis, assess genetic risks for the outcome and perform a prenatal DNA diagnosis in HNPP families.

  15. What features improve the accuracy of the clinical diagnosis of progressive supranuclear palsy-parkinsonism (PSP-P)?

    PubMed

    Williams, David R; Lees, Andrew J

    2010-02-15

    Progressive supranuclear palsy-parkinsonism (PSP-P) is a primary tauopathy characterised by neurofibrillary degeneration, which is frequently mistaken for Parkinson's disease (PD), multiple system atrophy (MSA), and vascular parkinsonism (VP) at presentation. The aim of this study was to identify particular clinical features (green flags) that may be helpful in differentiating PSP-P from these other disorders. We identified 37 patients with PSP-P from 726 patients archived at the Queen Square Brain Bank. Using a retrospective case notes review the clinical features were compared between the PSP-P group and Lewy body associated parkinsonism (PD, n = 444 and dementia with Lewy bodies (DLB), n = 46), MSA (n = 90), and VP (n = 19), using the chi(2)-test for proportions for a two-by-two contingency table. The sensitivity, specificity, and positive predictive values (PPV) and negative predictive values (NPV) were calculated for individual clinical features. A specificity of >0.85 or a PPV of >0.85 were considered reliable discriminators. No clinical features were predictive of PSP-P, but late drug induced dyskinesias (specificity 0.92, PPV 0.99), late autonomic dysfunction (specificity 0.94, PPV 0.99) and any visual hallucinations (specificity 0.94, PPV 0.99) were better in distinguishing PD and PSP-P than predicted using operational diagnostic criteria for PD. PSP-P shares many clinical features with PD and DLB, MSA and VP, but visual hallucinations, drug induced dyskinesias and autonomic dysfunction are very uncommon and may be helpful exclusion criteria.

  16. The significance of clinical and laboratory features in the diagnosis of glycogen storage disease type v: a case report.

    PubMed

    Park, Hyung Jun; Shin, Ha Young; Cho, Yu Na; Kim, Seung Min; Choi, Young-Chul

    2014-07-01

    Glycogen storage disease type V (GSD-V) is the most common disorder of muscle glycogenosis with characteristic clinical and laboratory findings. A 32-yr-old woman complained of exercise intolerance and myoglobulinuria since early adolescence. She reported several episodes of second-wind phenomenon. Physical examination did not show any neurological abnormality, including fixed muscle weakness or atrophy. Serum creatine kinase level was 1,161 IU/L at rest. The result of the non-ischemic forearm exercise test was compatible with GSD-V. Mutation analysis identified the compound heterozygous mutations of the PYGM, p.D510fs and p.F710del, which has not yet been reported in Korea. The present case recognizes that detail clinical and laboratory analysis is the first step in the diagnosis of GSD-V.

  17. Meckel-Gruber Syndrome: a population-based study on prevalence, prenatal diagnosis, clinical features, and survival in Europe.

    PubMed

    Barisic, Ingeborg; Boban, Ljubica; Loane, Maria; Garne, Ester; Wellesley, Diana; Calzolari, Elisa; Dolk, Helen; Addor, Marie-Claude; Bergman, Jorieke Eh; Braz, Paula; Draper, Elizabeth S; Haeusler, Martin; Khoshnood, Babak; Klungsoyr, Kari; Pierini, Anna; Queisser-Luft, Annette; Rankin, Judith; Rissmann, Anke; Verellen-Dumoulin, Christine

    2015-06-01

    Meckel-Gruber Syndrome is a rare autosomal recessive lethal ciliopathy characterized by the triad of cystic renal dysplasia, occipital encephalocele and postaxial polydactyly. We present the largest population-based epidemiological study to date using data provided by the European Surveillance of Congenital Anomalies (EUROCAT) network. The study population consisted of 191 cases of MKS identified between January 1990 and December 2011 in 34 European registries. The mean prevalence was 2.6 per 100,000 births in a subset of registries with good ascertainment. The prevalence was stable over time, but regional differences were observed. There were 145 (75.9%) terminations of pregnancy after prenatal diagnosis, 13 (6.8%) fetal deaths, 33 (17.3%) live births. In addition to cystic kidneys (97.7%), encephalocele (83.8%) and polydactyly (87.3%), frequent features include other central nervous system anomalies (51.4%), fibrotic/cystic changes of the liver (65.5% of cases with post mortem examination) and orofacial clefts (31.8%). Various other anomalies were present in 64 (37%) patients. As nowadays most patients are detected very early in pregnancy when liver or kidney changes may not yet be developed or may be difficult to assess, none of the anomalies should be considered obligatory for the diagnosis. Most cases (90.2%) are diagnosed prenatally at 14.3 ± 2.6 (range 11-36) gestational weeks and pregnancies are mainly terminated, reducing the number of LB to one-fifth of the total prevalence rate. Early diagnosis is important for timely counseling of affected couples regarding the option of pregnancy termination and prenatal genetic testing in future pregnancies.

  18. Meckel–Gruber Syndrome: a population-based study on prevalence, prenatal diagnosis, clinical features, and survival in Europe

    PubMed Central

    Barisic, Ingeborg; Boban, Ljubica; Loane, Maria; Garne, Ester; Wellesley, Diana; Calzolari, Elisa; Dolk, Helen; Addor, Marie-Claude; Bergman, Jorieke EH; Braz, Paula; Draper, Elizabeth S; Haeusler, Martin; Khoshnood, Babak; Klungsoyr, Kari; Pierini, Anna; Queisser-Luft, Annette; Rankin, Judith; Rissmann, Anke; Verellen-Dumoulin, Christine

    2015-01-01

    Meckel–Gruber Syndrome is a rare autosomal recessive lethal ciliopathy characterized by the triad of cystic renal dysplasia, occipital encephalocele and postaxial polydactyly. We present the largest population-based epidemiological study to date using data provided by the European Surveillance of Congenital Anomalies (EUROCAT) network. The study population consisted of 191 cases of MKS identified between January 1990 and December 2011 in 34 European registries. The mean prevalence was 2.6 per 100 000 births in a subset of registries with good ascertainment. The prevalence was stable over time, but regional differences were observed. There were 145 (75.9%) terminations of pregnancy after prenatal diagnosis, 13 (6.8%) fetal deaths, 33 (17.3%) live births. In addition to cystic kidneys (97.7%), encephalocele (83.8%) and polydactyly (87.3%), frequent features include other central nervous system anomalies (51.4%), fibrotic/cystic changes of the liver (65.5% of cases with post mortem examination) and orofacial clefts (31.8%). Various other anomalies were present in 64 (37%) patients. As nowadays most patients are detected very early in pregnancy when liver or kidney changes may not yet be developed or may be difficult to assess, none of the anomalies should be considered obligatory for the diagnosis. Most cases (90.2%) are diagnosed prenatally at 14.3±2.6 (range 11–36) gestational weeks and pregnancies are mainly terminated, reducing the number of LB to one-fifth of the total prevalence rate. Early diagnosis is important for timely counseling of affected couples regarding the option of pregnancy termination and prenatal genetic testing in future pregnancies. PMID:25182137

  19. Clinical and cytological features in diagnosis of peripheral tubercular lymphadenitis - A hospital-based study from central India.

    PubMed

    Gupta, Vivek; Bhake, Arvind

    2017-10-01

    Tuberculosis lymphadenitis is difficult to diagnose clinically, and often the laboratory confirmation is not available in resource-poor countries. We describe here the symptoms, clinical characteristics, and results of cytological analysis in peripheral tuberculous lymphadenitis patients. One hundred and fifty-six patients with peripheral lymph node for cytological evaluation presenting to Department of Pathology, Acharya Vinoba Bhave Rural Hospital, Wardha, India were included in this study. Sixty-nine cases were tuberculous lymphadenitis, with female to male ratio of 1.3:1. One or more constitutional symptoms were present in 59.4% of patients, with 89.9% of lymph nodes ≥2×2cm and the most common site of involvement was cervical lymph node (70.3%). The lymph nodes were multiple (85.5%), either discrete or matted. Cytomorphologically, hemorrhagic aspirate was observed in 29 cases, well-formed epithelioid cell granuloma with caseous necrosis was seen in 34 cases, and Zeihl Neelsen staining was positive in 45 cases. Correlation between character of aspirate and cytomorphological pattern was found highly significant. These data suggest that constitutional symptoms and clinical and cytological features help in diagnosing cases of peripheral tubercular lymphadenitis and also open new frontiers to further research that affects the cytological features of these cases. Copyright © 2016 Tuberculosis Association of India. Published by Elsevier B.V. All rights reserved.

  20. Feature Hepatitis: Hepatitis Symptoms, Diagnosis, Treatment & Prevention

    MedlinePlus

    ... Navigation Bar Home Current Issue Past Issues Feature Hepatitis Hepatitis: Symptoms, Diagnosis, Treatment & Prevention Past Issues / Spring 2009 ... No appetite Fever Headaches Diagnosis To check for hepatitis viruses, your doctor will test your blood. You ...

  1. Trends in the diagnosis and clinical features of melanoma in situ (MIS) in US men and women: A prospective, observational study.

    PubMed

    Wei, Erin X; Qureshi, Abrar A; Han, Jiali; Li, Tricia Y; Cho, Eunyoung; Lin, Jennifer Y; Li, Wen-Qing

    2016-10-01

    The incidence of melanoma in situ (MIS) is increasing, but little is known about its clinical and epidemiologic features. We sought to determine trends in diagnosis and clinical features of MIS. Incident cases of melanoma were collected prospectively from the Nurses' Health Study (1976-2010) and Health Professionals Follow-up Study (1986-2010). MIS incidence increased from 2 to 42 per 100,000 person-year among women, and from 11 to 73 per 100,000 person-year among men, exceeding the rate of increase of invasive melanomas. Melanoma mortality initially increased during the follow-up period then plateaued. Men were more likely than women to develop in situ melanomas on the upper half of the body (P < .001). Invasive melanomas were diagnosed at a younger age than MIS (P < .001), and were more likely to be found on the lower extremities than MIS (P < .001). This is a strictly descriptive study without examination into mechanisms. We found epidemiologic and clinical differences for in situ and invasive melanomas, which support further examination into the variations in etiologic pathways. The lack of improvement in mortality despite the increase in detection of in situ relative to invasive lesions further highlights the need to improve invasive melanoma-specific clinical screening features. Copyright © 2016 American Academy of Dermatology, Inc. Published by Elsevier Inc. All rights reserved.

  2. Clinical features, diagnosis and management of maternally inherited diabetes and deafness (MIDD) associated with the 3243A>G mitochondrial point mutation.

    PubMed

    Murphy, R; Turnbull, D M; Walker, M; Hattersley, A T

    2008-04-01

    Maternally inherited diabetes and deafness (MIDD) affects up to 1% of patients with diabetes but is often unrecognized by physicians. It is important to make an accurate genetic diagnosis, as there are implications for clinical investigation, diagnosis, management and genetic counselling. This review summarizes the range of clinical phenotypes associated with MIDD; outlines the advances in genetic diagnosis and pathogenesis of MIDD; summarizes the published prevalence data and provides guidance on the clinical management of these patients and their families.

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

    PubMed Central

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

    2014-01-01

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

  4. Delayed diagnosis is associated with changes in the clinical and ultrasound features of subcutaneous endometriosis near cesarean section scars.

    PubMed

    Francica, G; Scarano, F

    2009-09-01

    Sommario INTRODUZIONE: Scopo dello studio è valutare le caratteristiche ecografiche e cliniche di endometriomi in prossimità di cicatrice di Pfannenstiel in rapporto a ritardo diagnostico segnalato da dimensioni ≥ 30 mm al momento della diagnosi istologica. METODI: Sono stati confrontati i dati clinico-anamnestici, ecografici e Color Doppler di 13 pazienti (età media 31.3 anni) con 13 endometriomi ≥ 30 mm (Ø medio 41.8 mm; range 30–60 mm) e di 17 pazienti (età media 30.7 anni) con 19 endometriomi < 30 mm (Ø medio 18.3 mm; range 7–26). In tutti i casi era disponibile il risultato istologico su campione operatorio. RISULTATI: Nelle pazienti con endometrioma ≥30 mm risultavano più lunghi sia il tempo medio intercorso tra il ricovero e ultimo taglio cesareo (5.5 vs. 3.3 anni; p < 0.01) che la durata media dei sintomi prima del ricovero (43 vs. 17.4 mesi; p < 0.01). Inoltre, indagini diagnostiche diverse dall'ecografia (TC, RM, FNB, celioscopia) o interventi chirurgici incongrui si registravano nel 39% delle pazienti con endometriomi ≥ 30 mm, ma in nessuna di quelle con piccoli noduli (p < 0.05). Dal punto di vista ecografico gli endometriomi ≥ 30 mm mostravano più spesso (p < 0.05) perdita della morfologia ovalare, aree liquide interne, tramiti fistolosi e multipli poli vascolari con aumentata vascolarizzazione intralesionale. CONCLUSIONI: Il ritardo nella diagnosi dell'endometrioma su cicatrice di Pfannenstiel, segnalato da una storia clinica più lunga e complessa, modifica i caratteri ecostrutturali più tipici dell'endometrioma e può rendere ancora più difficile il riconoscimento di questa condizione patologica.

  5. Crystal arthritides - gout and calcium pyrophosphate arthritis : Part 2: clinical features, diagnosis and differential diagnostics.

    PubMed

    Schlee, S; Bollheimer, L C; Bertsch, T; Sieber, C C; Härle, P

    2017-02-23

    Gout develops in four stages beginning with an asymptomatic increase in blood levels of uric acid. An acute gout attack is an expression of an underlying inflammatory process, which in the course of time is self-limiting. Without therapy monosodium urate crystals remain in the synovial fluid and synovial membrane and trigger more acute attacks. In the course of the disease monosodium urate crystals form deposits (tophi) leading in severe forms to irreversible joint deformities with loss of functionality. In 20% of cases gout leads to involvement of the kidneys. Overproduction of uric acid can cause nephrolithiasis. These stones can be composed of uric acid or calcium phosphate. Another form of kidney disease caused by gout is uric acid nephropathy. This is a form of abacterial chronic inflammatory response with deposition of sodium urate crystals in the medullary interstitium. Acute obstructive nephropathy is relatively rare and characterized by renal failure due to uric acid precipitation in the tubules because of rapid cell lysis that occurs, for example, with chemotherapy. There is a causal interdependence between the occurrence of hyperuricemia and hypertension. Uric acid activates the renin-angiotensin-aldosterone (RAA) system and inhibits nitric oxide (NO) with the possible consequence of a rise in systemic vascular resistance or arteriolar vasculopathy; however, uric acid is also an apparently independent risk factor for atherosclerosis. In contrast to young patients, the diagnosis of an acute gout attack in the elderly can be a challenge for the physician. Polyarticular manifestations and obscure symptoms can make it difficult to differentiate it from rheumatoid arthritis and calcium pyrophosphate deposition disease (CPPD). Aspiration of synovial fluid with visualization of urate crystals using compensated polarized light microscopy is the gold standard for diagnosis of acute gout. Moreover, analysis of synovial fluid enables a distinction from septic

  6. Cerebellar ataxia, neuropathy, vestibular areflexia syndrome (CANVAS): a review of the clinical features and video-oculographic diagnosis.

    PubMed

    Szmulewicz, David J; Waterston, John A; MacDougall, Hamish G; Mossman, Stuart; Chancellor, Andrew M; McLean, Catriona A; Merchant, Saumil; Patrikios, Peter; Halmagyi, G Michael; Storey, Elsdon

    2011-09-01

    The association of bilateral vestibulopathy with cerebellar ataxia was first reported in 1991 and delineated as a distinct syndrome with a characteristic and measurable clinical sign--an absent visually enhanced vestibulo-ocular reflex--in 2004. We reviewed 27 patients with this syndrome and show that a non-length-dependent sensory deficit with absent sensory nerve action potentials is an integral component of this syndrome, which we now call "cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome" (CANVAS). All patients had brain MRI and 22/27 had evidence of cerebellar atrophy involving anterior and dorsal vermis, as well as the hemispheric crus I. Brain and temporal bone pathology in one patient showed marked loss of Purkinje cells and of vestibular, trigeminal, and facial ganglion cells, but not of spiral ganglion cells. There are two sets of sibling pairs, suggesting CANVAS is a late-onset recessive disorder. The characteristic clinical sign-the visual vestibulo-ocular reflex deficit-can be demonstrated and measured clinically using video-oculography.

  7. [Clinical diagnosis of dyslexia].

    PubMed

    Martínez Hermosillo, A; Balderas Gil, A

    1980-01-01

    In 5 years of experience at the Instituto Nacional de la Comunicacion Humana, 302 clinical histories showed the diagnosis of dyslexia. The following parameters were studied: age, sex, heredofamilial history, gestation, psychomotor development, clinical picture, examination of the language (type, reading, spontaneous writing, dictation, mathematic concepts), laterality, scholarship, scholar failures, psychological study. The following results were obtained: Dyslexia was more important or frequent between 5 to 8.9 years of age. Males predominated 3:1. The heredofamilial history was important. Dyslexia prevailed in products of the first gestations. A high disturbance was found in the psychomotor development of a large percent of dyslexic patients. Examination of language was also important. Dyslexia was more frequent in right-handed patients. Scholar failures in one or more instances were found. The psychological study must be done. If dyslexia is diagnosed on time, it may be prevented and all unwanted sequelae may be avoided.

  8. A new clinical feature associated with familial early-onset of dystonic-guttural tics: An unusual diagnosis of PANDAS.

    PubMed

    Vitaliti, Giovanna; Trifiletti, Rosario R; Falsaperla, Raffaele; Parano, Enrico; Spalice, Alberto; Pavone, Piero

    2014-01-01

    Until today there is a large debate about the existence of PANDAS (pediatric autoimmune neuropsychiatric disorders associated with streptococcal infections) or PANS (pediatric acute onset neuropsychiatric syndrome). These children usually have dramatic, "overnight" onset of symptoms, including motor or vocal tics, obsessions, and/or compulsions. In addition to these symptoms, children may also have comorbid features of associated disorders. Herein, we report a family with an early onset of tics, with exclusively dystonic and guttural tics. All patients had a particularly strong excitement trigger. Two of the patients were shown to have signs suggestive of PANDAS and all family members were Group A beta-hemolytic Streptococcus (GABHS) carriers. The PANDAS spectrum is probably a group of disorders. We have described a PANDAS variant, in which the family seems to share common autoimmune pattern and may be viewed in the large spectrum of PANDAS.

  9. Clinical features at diagnosis and responses to antithyroid drugs in younger children with Graves' disease compared with adolescent patients.

    PubMed

    Sato, Hirokazu; Minamitani, Kanshi; Minagawa, Masanori; Kazukawa, Itsuro; Sugihara, Shigetaka; Wataki, Kunio; Konda, Susumu; Inomata, Hiroaki; Sanayama, Kazunori; Kohno, Yoichi; Sasaki, Nozomu

    2014-07-01

    The aim of this study was to evaluate clinical manifestations, laboratory findings, and effects of antithyroid drugs in younger children with Graves' disease (GD). A retrospective and collaborative study. Nine facilities in Chiba prefecture, Japan. We analyzed 132 children and adolescents with GD. The subjects were divided according to the median age into a group of young children (group I, 4.1-12.4 years, n=66) and an adolescent group (group II, 12.5-15.9 years, n=66). Clinical manifestations, laboratory findings, incidence of adverse effects, and remission rates 5 years after initial therapy were assessed. The mean height SD score of group I (1.0) was higher than that of group II (0.3, p<0.001). The mean BMI SD score of group I (-0.7) was lower than that of group II (-0.3, p<0.05). The most common presentations were goiter, sweating, and hyperactivity in group I, whereas the most common presentations were goiter, sweating, and easy fatigability in group II. Hyperactivity was more frequent in group I (56.7%) than in group II (37.9%, p<0.05). Liver dysfunction appeared more often in group I (14.3%) than in group II (1.9%, p<0.05). There was no difference in the appearance of adverse effects between the two groups. The remission rate was slightly lower in group I (23.1%) than in group II (31.3%), but was not significant. Thyrotoxicosis had more influence on the growth and liver function in younger children.

  10. [Psychosis - clinical differential diagnosis].

    PubMed

    Röh, A; Falkai, P; Hasan, A

    2016-08-01

    Many patients with psychiatric and organic disorders may present primary or secondary psychotic symptoms. Based on the ICD 10 classification, this article describes the possible underlying diseases and their subdivision. The main focus will be differential-diagnostic evaluations of psychotic syndromes. In the clinical setting, the differential diagnosis of the paranoid schizophrenia and other psychotic disorders into three main disease groups is important: 1. other psychiatric diseases, 2. primary and secondary organic diseases and 3. autoimmune diseases. The first group contains, for example, drug-induced psychoses, affective disorders, personality disorders. The second group includes forms of dementia, forms of deliria or metabolic diseases. Recently, another focus is set on autoimmune diseases, especially encephalitides. A detailed medical history, a physical examination and organic diagnostic can lead to the correct diagnosis and therapy. The differential-diagnostic classification and the detection of organic causes is an important part of psychiatric care, but often a good cooperation with organic specialties is needed. © Georg Thieme Verlag KG Stuttgart · New York.

  11. Clinical features of legionnaires' disease.

    PubMed

    Cunha, B A

    1998-06-01

    Legionnaires' disease is a systemic infectious disease primarily involving the lungs, with multisystemic extrapulmonary manifestations. Any species of Legionella may cause legionnaires' disease in normal and compromised hosts. The clinical diagnosis of legionnaires' disease may be made on the basis of associated extrapulmonary clinical and laboratory findings. Although no single finding in legionnaires' disease is pathognomonic, the association of key extrapulmonary constitutes a typical pattern that is diagnostically characteristic. The syndromic approach based on a weighted point evaluation system described in the article gives physicians a system to arrive at a rapid presumptive clinical diagnosis of legionnaires' disease. Definitive diagnosis of legionnaires' disease is by direct fluorescent antibody testing of respiratory specimens, serological methods, Legionella urinary antigenuria, or culture.

  12. A Review of Donnai-Barrow and Facio-oculo-acoustico-renal (DB/FOAR) Syndrome: Clinical Features and Differential Diagnosis

    PubMed Central

    Pober, Barbara R.; Longoni, Mauro; Noonan, Kristin M.

    2010-01-01

    Mutations in the gene LRP2 have recently been identified as the cause of Donnai-Barrow and Facio-oculo-acoustico-renal (DB/FOAR) syndrome. More than two dozen cases, the first reported more than 30 years ago by Holmes, have been published. Summarizing available information, we highlight the cardinal features of the disorder found in ≥90% of published cases. These features include: agenesis of the corpus callosum, developmental delay, enlarged anterior fontanelle, high myopia, hypertelorism, proteinuria, and sensorineural hearing loss. Congenital diaphragmatic hernia and omphalocele are reported in only half of the patients. There is no evidence for genotype-phenotype correlation, though the sample size is too small to preclude this with certainty. Although several conditions to consider in the differential diagnosis are highlighted, the diagnosis of DB/FOAR syndrome should not be difficult to establish as its constellation of findings is strikingly characteristic. PMID:19089858

  13. Clinical features in hepatocellular carcinoma and the impact of autopsy on diagnosis. A study of 530 cases from a low-endemicity area.

    PubMed

    Kaczynski, Jerzy; Hansson, Göran; Wallerstedt, Sven

    2005-01-01

    Hepatocellular carcinoma (HCC) had been one of the malignancies with the highest reported increase of incidence in Sweden, but during the late 20-year period the incidence has been decreasing. The aims of our study were to state the impact of autopsy on diagnosis and to identify clinical characteristics in HCC. This retrospective study was performed in Göteborg, Sweden and included all cases with a diagnosis of liver cancer from a period with a high autopsy frequency (1958-1979). The cases were reevaluated histopathologically and the autopsy records as well as the case files were scrutinized. The majority (63%) of the 530 biopsy verified cases of HCC were diagnosed unexpectedly at autopsy. Cirrhosis of the liver could be established in 71% of the cases, but was diagnosed or at least clinically suspected before the diagnosis of the tumor only in a minority (19%) of all HCC patients. At presentation, malaise (85%), weight loss (78%), anorexia (67%) and hepatomegaly (84%) were common. The median survival time from diagnosis was one month. In most cases (92%) the cause of death was either directly or indirectly related to HCC and/or underlying liver disease such as advanced tumor disease, hepatic failure and gastrointestinal bleeding. Spontaneous rupture of HCC was the cause of death in 17 cases (3%) In an unselected population in a low incidence area of HCC, most patients have clinically unknown cirrhosis of the liver and present with vague general paramalignant symptoms. HCC has an extremely poor prognosis. Since HCC, in a majority of cases, remains undiagnosed before death, the autopsy has great impact on the diagnosis. This should be considered in interpretation of results from epidemiological studies.

  14. Mitochondrial disorders: clinical and genetic features.

    PubMed

    Simon, D K; Johns, D R

    1999-01-01

    Virtually all cells in humans depend on mitochondrial oxidative phosphorylation to generate energy, accounting for the remarkable diversity of clinical disorders associated with mitochondrial DNA mutations. However, certain tissues are particularly susceptible to mitochondrial dysfunction, resulting in recognizable clinical syndromes. Mitochondrial DNA mutations have been linked to seizures, strokes, optic atrophy, neuropathy, myopathy, cardiomyopathy, sensorineural hearing loss, diabetes mellitus, and other clinical features. Mitochondrial DNA mutations also may play an important role in aging, as well as in common age-related neurodegenerative disorders such as Parkinson's disease. Therefore, it is becoming increasingly important for clinicians to recognize the clinical syndromes suggestive of a mitochondrial disorder, and to understand the unique features of mitochondrial genetics that complicate diagnosis and genetic counseling.

  15. Spinal infections: clinical and imaging features.

    PubMed

    Arbelaez, Andres; Restrepo, Feliza; Castillo, Mauricio

    2014-10-01

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

  16. Gestational Trophoblastic Disease: Clinical and Imaging Features.

    PubMed

    Shaaban, Akram M; Rezvani, Maryam; Haroun, Reham R; Kennedy, Anne M; Elsayes, Khaled M; Olpin, Jeffrey D; Salama, Mohamed E; Foster, Bryan R; Menias, Christine O

    2017-01-01

    Gestational trophoblastic disease (GTD) is a spectrum of both benign and malignant gestational tumors, including hydatidiform mole (complete and partial), invasive mole, choriocarcinoma, placental site trophoblastic tumor, and epithelioid trophoblastic tumor. The latter four entities are referred to as gestational trophoblastic neoplasia (GTN). These conditions are aggressive with a propensity to widely metastasize. GTN can result in significant morbidity and mortality if left untreated. Early diagnosis of GTD is essential for prompt and successful management while preserving fertility. Initial diagnosis of GTD is based on a multifactorial approach consisting of clinical features, serial quantitative human chorionic gonadotropin (β-hCG) titers, and imaging findings. Ultrasonography (US) is the modality of choice for initial diagnosis of complete hydatidiform mole and can provide an invaluable means of local surveillance after treatment. The performance of US in diagnosing all molar pregnancies is surprisingly poor, predominantly due to the difficulty in differentiating partial hydatidiform mole from nonmolar abortion and retained products of conception. While GTN after a molar pregnancy is usually diagnosed with serial β-hCG titers, imaging plays an important role in evaluation of local extent of disease and systemic surveillance. Imaging also plays a crucial role in detection and management of complications, such as uterine and pulmonary arteriovenous fistulas. Familiarity with the pathogenesis, classification, imaging features, and treatment of these tumors can aid in radiologic diagnosis and guide appropriate management. (©)RSNA, 2017.

  17. Primary cutaneous T-cell lymphoma (mycosis fungoides and Sézary syndrome): part I. Diagnosis: clinical and histopathologic features and new molecular and biologic markers.

    PubMed

    Jawed, Sarah I; Myskowski, Patricia L; Horwitz, Steven; Moskowitz, Alison; Querfeld, Christiane

    2014-02-01

    Mycosis fungoides (MF) and Sézary syndrome (SS) comprise approximately 53% of cutaneous lymphomas. Both MF and SS may clinically and histologically mimic benign skin conditions, posing a diagnostic challenge to the dermatologist. Precise clinicopathologic correlation is necessary to support a diagnosis, especially in the early stages of disease. In addition to the identification of histopathologic criteria, ancillary studies, including the identification of CD4(+) T cells with aberrant immunophenotypes and T-cell receptor gene rearrangements within skin lesions and peripheral blood are used to support the diagnosis. Recent studies evaluating the pathogenesis of MF have found that the skin microenvironment, including immune cells, such as dendritic cells and reactive cytotoxic and regulatory T cells, plays a crucial supporting role in MF. The skin-homing ability of malignant T cells is the result of chemokines, cytokines, adhesion molecules, and defective apoptosis, and is believed to play a role in disease pathogenesis and progression. In addition, recent studies have also suggested that MF and SS arise from distinct memory T cell subsets and advanced/erythrodermic MF and SS may be distinguished by identification of certain molecules, including Programmed-Death-1.

  18. [Clinical features of hypokalemic periodic paralysis].

    PubMed

    Wang, Wei; Zhao, Chun-yun; Gao, Yan-ming

    2009-12-18

    To explore the clinical features of hypokalemic periodic paralysis, and compare clinical features of primary group with those of thyrotoxicosis secondary group. Clinical data of 44 patients with hypokalemic periodic paralysis in Peking University First Hospital from 1996 December to 2008 December were retrospectively analyzed. There were 22 patients in primary group, and 22 in thyrotoxicosis group. Identical clinical features of both the groups: (1)It had a predilection in young men. (2)Main symptoms were limb movement disorder and fatigue, and paralysis recurrent attacked in most patients. (3) 40.9% to 68.2% patients had obvious incentives, and the common ones were a heavy meal, sweet drinks, or strenuous exercise. (4) Serum potassium levels of the two groups were obviously lower than the normal range. (5)In 20% patients of primary group and 25% patients of thyrotoxicosis secondary group, CK levels were higher than normal, while LDH and HBDH levels were normal. (6)The doses of potassium replishment were not correlated to serum potassium levels at the onset. Different clinical features of the two groups: (1) Patients of thyrotoxicosis group had hypermetabolism symptoms and thyroid dysfunction. Patients of primary group had no hypermetabolism symptoms, and all of them were euthyroid. (2)Serum potassium levels of thyrotoxicosis secondary group were lower than those of primary group significantly [(2.25 +/- 0.67) vs (2.78 +/- 0.49) mmol/L, P=0.007]. (3) Hyperkalemia is easier than primary group to rebound in thyrotoxicosis secondary group, after replenishment of potassium. Hypokalemic periodic paralysis has its clinical features, and patients with early diagnosis and replenishment of potassium in time have good prognosis. The doses of potassium replenishment are not determined by serum potassium levels at the onset. Hyperkalemia is easier to rebound in thyrotoxicosis secondary group after replenishment of potassium, serum potassium levels should be monitored closely

  19. Clinical and radiographic maxillofacial features of pycnodysostosis

    PubMed Central

    Alves, Nilton; Cantín, Mario

    2014-01-01

    The aim of this study was to review of the literature to determine the radiographic and clinical maxillofacial features of pycnodysostosis emphasizing the main aspects of interest to the dentist in order to make them fit for the proper treatment of this population. It is important to make the diagnosis as early as possible in order to plan the treatment more suitable to provide a better life’s quality to the patients. The most frequent clinical maxillofacial features were: grooved palate, midfacial hypoplasia, mandibular hypoplasia and enamel hypoplasia. The most common radiographic maxillofacial features were: obtuse mandibular angle, frontal/parietal/occiptal bossing, open fontanels and sutures, multiple impacted teeth. The earlier diagnostic of pycnodysostosis has a fundamental role in general health of the patients. We consider that is very important that the dentist know recognize the radiographic and clinical maxillofacial features of pycnodysostosis, which allows correct treatment planning avoiding risks and ensuring better life’s quality to the patients. PMID:24753741

  20. Clinical features of pediatric hereditary angioedema.

    PubMed

    Nanda, Maya K; Elenburg, Shelby; Bernstein, Jonathan A; Assa'ad, Amal H

    2015-01-01

    There is a paucity of data that describe the clinical course of hereditary angioedema (HAE) in children. The purpose of this study was to examine the clinical features of children with HAE. Electronic medical records from the past 10 years at Cincinnati Children's Hospital Medical Center and an outpatient allergy community practice were searched for ICD-9 code 277.6 (Other deficiencies of circulating enzyme). Exclusion criteria included laboratory data not supportive of type I or II HAE diagnosis or age at diagnosis greater than 18 years. Chart review was performed and missing data were collected by telephone interviews with patient families. Descriptive statistics were performed using SAS version 9.4. Twenty-one children were identified. The median age was 13.2 years (interquartile range [IQR], 9.1-18.8), 71% were male, 86% had an HAE family history, and 95% were Caucasian. The median age of symptom onset and diagnosis was 5.7 (IQR, 5-9 years) and 5.0 (IQR, 4-8 years), respectively. Five children diagnosed were asymptomatic. Three children without a family history had a 6.0-year delay in diagnosis. The most common angioedema attack sites were abdominal, peripheral, and laryngeal, which occurred at least once in 93%, 73%, and 27%, respectively. Of the 15 children with onset of symptoms, only 6 children received on-demand therapy for an acute attack, whereas 13 children were administered either short-term or long-term prophylaxis therapy. In this pediatric HAE population, symptom onset and diagnosis occurred at a median age of 5 years with a delay in diagnosis in those without a family history. Abdominal attacks were more common than peripheral attacks in this population. Copyright © 2015 American Academy of Allergy, Asthma & Immunology. Published by Elsevier Inc. All rights reserved.

  1. Plague: Clinics, Diagnosis and Treatment.

    PubMed

    Nikiforov, Vladimir V; Gao, He; Zhou, Lei; Anisimov, Andrey

    2016-01-01

    Plague still poses a significant threat to human health and as a reemerging infection is unfamiliar to the majority of the modern medical doctors. In this chapter, the plague is described according to Dr. Nikiforov's experiences in the diagnosis and treatment of patients, and also a review of the relevant literature on this subject is provided. The main modern methods and criteria for laboratory diagnosis of plague are briefly described. The clinical presentations include the bubonic and pneumonic form, septicemia, rarely pharyngitis, and meningitis. Early diagnosis and the prompt initiation of treatment reduce the mortality rate associated with bubonic plague and septicemic plague to 5-50 %; although a delay of more than 24 h in the administration of antibiotics and antishock treatment can be fatal for plague patients. Most human cases can successfully be treated with antibiotics.

  2. Pediatric insomnia: clinical, diagnosis, and treatment.

    PubMed

    Miano, Silvia; Peraita-Adrados, Rosa

    2014-01-01

    Pediatric insomnia is an extrinsic sleep disorder subdivided into two categories: behavioral insomnia and insomnia related to medical, neurological, and psychiatric diseases. This review will cover several types of insomnia, comorbidities and specific pediatric therapies according to clinical characteristics and age. Behavioral insomnia should be differentiated from pediatric insomnia due to medical conditions, mostly occurring during the first year of life. Multiple night awakenings and diurnal hypersomnolence are strong indicators of insomnia due to medical conditions. Insomnia during adolescence and pediatric insomnia associated with psychiatric comorbidity, cognitive disabilities and epilepsy, will be discussed in terms of diagnosis, clinical features and implications for treatment.

  3. Clinical features and prognosis for intraventricular liponeurocytoma

    PubMed Central

    Xu, Nini; Cai, Jinxiu; Du, Jiang; Yang, Rong; Zhu, Huachen; Gao, Peiyi; Zhou, Jian; Li, Xiaofeng

    2017-01-01

    Cerebellar liponeurocytoma is a rare central nervous system tumor, we investigate its biological behaviors and clinical prognosis to improve the understanding of this tumor. We retrospectively analyzed the clinical, radiological and histopathological findings as well as follow-up data of two patients with intraventricular liponeurocytomas in Beijing Tiantan Hospital between July 2000 and July 2016. The main clinical manifestations of the two patients were headache. The supratentorial intraventricular liponeurocytoma appeared as isodense to slight hyperdense on CT scan and heterogeneous intensity on T1-weighted imaging (T1WI) and T2-weighted imaging (T2WI). The plaque-like hypodense on CT images and hyperintensity on T1WI resembling fat could be seen inside the tumor. The liponeurocytoma located in the fourth ventricle showed isointensity on T1 and T2WI as well as slight enhancement on contrast. Two patients accepted gross total resection of tumors. Two intraventricular tumors demonstrated similarly histopathological features, such as isomorphic small tumor cells with clear cytoplasm, sheets of monomorphic round cells and focal lipomatous differentiation. In addition, expression of synaptophysin, neuron specific enolase, microtubule-associated protein 2 and S-100 were found. No radiological or clinical evidence of recurrence of the tumors was observed in their follow-up surveys. In conclusion, intraventricular liponeurocytoma has a favorable clinical course, radiological features may be useful in the diagnosis of this rare tumor before surgery. PMID:28977976

  4. Clinical features and prognosis for intraventricular liponeurocytoma.

    PubMed

    Xu, Nini; Cai, Jinxiu; Du, Jiang; Yang, Rong; Zhu, Huachen; Gao, Peiyi; Zhou, Jian; Li, Xiaofeng

    2017-09-22

    Cerebellar liponeurocytoma is a rare central nervous system tumor, we investigate its biological behaviors and clinical prognosis to improve the understanding of this tumor. We retrospectively analyzed the clinical, radiological and histopathological findings as well as follow-up data of two patients with intraventricular liponeurocytomas in Beijing Tiantan Hospital between July 2000 and July 2016. The main clinical manifestations of the two patients were headache. The supratentorial intraventricular liponeurocytoma appeared as isodense to slight hyperdense on CT scan and heterogeneous intensity on T1-weighted imaging (T1WI) and T2-weighted imaging (T2WI). The plaque-like hypodense on CT images and hyperintensity on T1WI resembling fat could be seen inside the tumor. The liponeurocytoma located in the fourth ventricle showed isointensity on T1 and T2WI as well as slight enhancement on contrast. Two patients accepted gross total resection of tumors. Two intraventricular tumors demonstrated similarly histopathological features, such as isomorphic small tumor cells with clear cytoplasm, sheets of monomorphic round cells and focal lipomatous differentiation. In addition, expression of synaptophysin, neuron specific enolase, microtubule-associated protein 2 and S-100 were found. No radiological or clinical evidence of recurrence of the tumors was observed in their follow-up surveys. In conclusion, intraventricular liponeurocytoma has a favorable clinical course, radiological features may be useful in the diagnosis of this rare tumor before surgery.

  5. 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

  6. Clinical Manifestations and Diagnosis of Acromegaly

    PubMed Central

    Lugo, Gloria; Pena, Lara; Cordido, Fernando

    2012-01-01

    Acromegaly and gigantism are due to excess GH production, usually as a result of a pituitary adenoma. The incidence of acromegaly is 5 cases per million per year and the prevalence is 60 cases per million. Clinical manifestations in each patient depend on the levels of GH and IGF-I, age, tumor size, and the delay in diagnosis. Manifestations of acromegaly are varied and include acral and soft tissue overgrowth, joint pain, diabetes mellitus, hypertension, and heart and respiratory failure. Acromegaly is a disabling disease that is associated with increased morbidity and reduced life expectancy. The diagnosis is based primarily on clinical features and confirmed by measuring GH levels after oral glucose loading and the estimation of IGF-I. It has been suggested that the rate of mortality in patients with acromegaly is correlated with the degree of control of GH. Adequately treated, the relative mortality risk can be markedly reduced towards normal. PMID:22518126

  7. Clinical manifestations and diagnosis of acromegaly.

    PubMed

    Lugo, Gloria; Pena, Lara; Cordido, Fernando

    2012-01-01

    Acromegaly and gigantism are due to excess GH production, usually as a result of a pituitary adenoma. The incidence of acromegaly is 5 cases per million per year and the prevalence is 60 cases per million. Clinical manifestations in each patient depend on the levels of GH and IGF-I, age, tumor size, and the delay in diagnosis. Manifestations of acromegaly are varied and include acral and soft tissue overgrowth, joint pain, diabetes mellitus, hypertension, and heart and respiratory failure. Acromegaly is a disabling disease that is associated with increased morbidity and reduced life expectancy. The diagnosis is based primarily on clinical features and confirmed by measuring GH levels after oral glucose loading and the estimation of IGF-I. It has been suggested that the rate of mortality in patients with acromegaly is correlated with the degree of control of GH. Adequately treated, the relative mortality risk can be markedly reduced towards normal.

  8. Is there an association between clinical features, response to diagnostic analgesia and radiological findings in horses with a magnetic resonance imaging diagnosis of navicular disease or other injuries of the podotrochlear apparatus?

    PubMed

    Parkes, Rebecca; Newton, Richard; Dyson, Sue

    2015-04-01

    Previous descriptions of the clinical features of navicular disease occurred before the widespread use of magnetic resonance imaging (MRI) allowed a more definitive diagnosis of foot pain. The objective of this study was to compare the clinical features of horses with lesions of the podotrochlear apparatus with those with other causes of foot pain. It was hypothesised that primary navicular bone disease would be associated with more advanced radiological findings than other diagnoses. A retrospective study was performed of all horses examined at a referral centre with a definitive diagnosis of foot pain based on MRI ± post-mortem examination. Clinical examination findings, response to diagnostic analgesia and radiological grading of the navicular bone were compared among five diagnosis groups: (1) primary navicular bone pathology (NB); (2) lesions of the collateral sesamoidean ligament and/or distal sesamoidean impar ligament (CSL + DSIL); (3) primary deep digital flexor tendon injury (DDFT); (4) navicular bone pathology and other lesions of the podotrochlear apparatus ± DDFT (PTA) and (5) Other. There were 702 horses (NB, 62; CSL + DSIL, 180; DDFT, 69; PTA, 92; Other, 299). Horses with PTA injuries were more frequently unilaterally lame than other groups (P = 0.04). Horses with DDFT injury were more likely to exhibit pain on turning than other groups (P <0.01). There were no associations between response to diagnostic analgesia and diagnostic group, and no association between radiological grade and diagnostic group. Clinical examination findings generally did not discriminate between diseases of the PTA and other causes of foot pain. Overall radiological scores of the navicular bone did not accurately predict navicular bone pathology.

  9. Clinically Isolated Syndromes: Clinical Characteristics, Differential Diagnosis, and Management

    PubMed Central

    EFENDİ, Hüsnü

    2015-01-01

    Clinically isolated syndrome (CIS) is a term that describes the first clinical onset of potential multiple sclerosis (MS). The term CIS is typically applied to young adults with episodes of acute or subacute onset, which reaches a peak quite rapidly within 2–3 weeks. In 85% of young adults who develop MS, onset occurs with an acute, CIS of the optic nerves, brainstem, or spinal cord. When clinically silent brain lesions are seen on MRI, the likelihood of developing MS is high. Because no single clinical feature or diagnostic test is sufficient for the diagnosis of CIS, diagnostic criteria have included a combination of both clinical and paraclinical studies. Diagnostic criteria from the International Panel of McDonald and colleagues incorporate MRI evidence of dissemination in time and space to allow a diagnosis of definite MS in patients with CIS. As CIS is typically the earliest clinical expression of MS, research on patients with CIS may provide new insights into early pathological changes and pathogenetic mechanisms that might affect the course of the disorder. With recent improvements in diagnosis and the advent of disease-modifying treatments for MS, there has been growing interest and research in patients with CIS.

  10. Clinical features of neuromyelitis optica in children

    PubMed Central

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

    2016-01-01

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

  11. Epidemiological and clinical features of Minamata disease.

    PubMed

    Igata, A

    1993-10-01

    Minamata disease is methyl mercury intoxication from fish contaminated by a chemical factory in Minamata city. Based on the results of our regional survey, cardinal clinical features of the disease were clarified by a multivariant analysis of all symptoms in inhabitants in the polluted area. The clinical features were found to be essentially the same as those of Hunter Russell syndrome; however, some additional symptoms were also found. Those symptoms are influenced by many factors, such as degree of exposure and duration of pollution. The disposition of each inhabitant also plays a role in clinical manifestation. This analysis contributes to a correct individual diagnosis and to the correct estimation of patients in polluted areas. Long-term studies also uncovered a few inhabitants who claimed to have begun to experience some neurological symptoms after pollution ceased. These symptoms were attributed mainly to aging. As many inhabitants with mild neurological complaints were not easily diagnosed, a questionable borderline group should be postulated for social settlement of Minamata disease. The characteristics of Minamata disease are discussed and compared to cases of methyl mercury poisoning in other parts of the world.

  12. Clinical approach to the diagnosis of congenital myopathies.

    PubMed

    North, Kathryn N

    2011-12-01

    In this issue of Seminars in Pediatric Neurology, each chapter will focus on the features and management of individual congenital myopathies. This introductory chapter will provide an overview of the clinical features that alert the clinician to the likely diagnosis of a congenital myopathy, and specific features on history and examination that are characteristic of a specific genetic subtype. Most congenital myopathies share a common pattern of clinical features, which makes it difficult to predict the genetic cause in a patient by clinical assessment alone. Although no single feature is specific for the congenital myopathies, the presence of this common pattern highlights patients in whom a muscle biopsy is likely to provide important diagnostic information. The diagnosis of a specific congenital myopathy should only be made when the defining morphologic feature is the predominant pathologic change, other possible causes have been excluded, and the clinical course is nonprogressive or only slowly progressive.

  13. [Xerostomia: clinic, etiology, diagnosis and treatment].

    PubMed

    Guobis, Zygimantas; Baseviciene, Nomeda; Paipaliene, Pajauta; Sabalys, Gintautas; Kubilius, Ricardas

    2006-01-01

    The aim of this article is to review the problem of xerostomia considering its clinical, etiological, diagnostic and treatment features, basing on the today's tutorials and scientific articles found in databases on the Internet. Recent epidemiologic data on the prevalence of xerostomia in different countries are introduced. There are analyzed the main aspects of clinical manifestations of xerostomia, according to the different etiology analyzed. The most common etiological factors causing xerostomia, especially the main three of them: radiation therapy, Sjögren's syndrome, and drugs, are pointed out. The most popular and accepted clinical and laboratory assays for measuring and evaluating the function of salivary glands are represented. Attention is paid to xerostomia as substantiation of the separate diagnosis and its role in diagnosing other diseases. The concept of possible treatment modalities and prognosis are discussed. The main and most common problems concerning xerostomia are revealed.

  14. Sporotrichosis arthritis: clinical features in seven patients.

    PubMed

    Crout, J E; Brewer, N S; Tompkins, R B

    1977-03-01

    A review of the clinical features of seven patients with sporotrichosis arthritis showed that six had joint infection without previous skin or lung involvement and that one with myelofibrosis had joint and skin infection. The average time from onset of joint symptoms to diagnosis was 25 months, resulting in joint damage that required arthrodesis in four patients. Tissue from open synovial biopsy was superior to synovial fluid for obtaining a positive culture; concomitant synovial fluid and synovial tissue cultures were superior to either one alone. Granulomatous inflammation was seen in synovial tissue in six patients biopsied. Amphotericin B with surgical debridement of the affected joint was successful treatment in four patients. Although an uncommon cause of joint disease, sporotrichosis arthritis may go unrecognized and mimic other forms of arthritis, resulting in irreparable damage in an otherwise curable form of arthritis.

  15. Clinical Features of Eosinophilic Bronchitis

    PubMed Central

    Joo, Jae Hak; Park, Sang Joon; Park, Sung Woo; Lee, June Hyuk; Kim, Do Jin; Uh, Soo Taek; Kim, Yong Hoon; Park, Choon Sik

    2002-01-01

    Background Eosinophilic inflammation of the airway is usually associated with airway hyper-responsiveness in bronchial asthma. However, there is a small group of patients which has the eosinophilic inflammation in the bronchial tree with normal spirometry and no evidence of airway hyper-responsiveness, which was named eosinophilic bronchitis. The objectives of this study are 1) to investigate the incidence of eosinophilic bronchitis in the chronic cough syndrome and 2) to evaluate the clinical features and course of eosinophilic bronchitis. Methods We evaluated 92 patients who had persistent cough for 3 weeks or longer. In addition to routine diagnostic protocol, we performed differential cell count of sputum. Eosinophilic bronchitis was diagnosed when the patient had normal spirometric values, normal peak expiratory flow variability, no airway hyper-responsiveness and sputum eosinophilia (>3%). Results The causes of chronic cough were post-nasal drip in 33%, cough variant asthma in 16%, chronic bronchitis in 15% and eosinophilic bronchitis in 12% of the study subjects. Initial eosinophil percentage in the sputum of patients with eosinophilic bronchitis was 26.8±6.1% (3.8–63.7%). Treatment with inhaled steroid is related with a subjective improvement of cough severity and a significant decrease of sputum eosinophil percentage (from 29.1±8.3% to 7.4±3.3%). During the follow-up period, increase in sputum eosinophil percentage with aggravation of symptoms were found. Conclusion Eosinophilic bronchitis is one of the important cause of chronics cough. Assessment of airway inflammation by sputum examination is important in investigating the cause of chronic cough. Cough in eosinophilic bronchitis is effectively controlled by inhaled corticosteroid, but may follow a chronic course. PMID:12014210

  16. Diagnosis of hyperandrogenism: clinical criteria.

    PubMed

    Yildiz, Bulent O

    2006-06-01

    Hyperandrogenism or androgen excess is a common endocrine disorder of women of reproductive-age, with a prevalence of 5-10%. The majority of patients with hyperandrogenism will have polycystic ovary syndrome. Hyperandrogenism presents a complex diagnostic challenge for both the practicing physician and the clinical investigator. Clinical manifestations of hyperandrogenism include hirsutism, acne, androgenic alopecia, and virilization. Hirsutism, defined as excessive growth of terminal hair in women in a male-like pattern, is the most commonly used clinical diagnostic criterion of hyperandrogenism. The presence of hirsutism is usually determined by using a standardized scoring system of hair growth. Depending on the definition, hirsutism is present in up to 80% of patients with hyperandrogenism. Acne and androgenic alopecia are other common androgenic skin changes, and might be observed without hirsutism in some hyperandrogenic women. However, isolated presence of any of these manifestations is not used as a diagnostic criterion for hyperandrogenism. Virilization is a relatively uncommon feature of hyperandrogenism, and its presence often suggests an androgen-producing tumor. A thorough history and a focused clinical examination are extremely helpful in diagnostic evaluation of patients with suspected hyperandrogenism.

  17. Autoimmune uveitis: clinical, pathogenetic, and therapeutic features.

    PubMed

    Prete, Marcella; Dammacco, Rosanna; Fatone, Maria Celeste; Racanelli, Vito

    2016-05-01

    Autoimmune uveitis (AU), an inflammatory non-infectious process of the vascular layer of the eye, can lead to visual impairment and, in the absence of a timely diagnosis and suitable therapy, can even result in total blindness. The majority of AU cases are idiopathic, whereas fewer than 20 % are associated with systemic diseases. The clinical severity of AU depends on whether the anterior, intermediate, or posterior part of the uvea is involved and may range from almost asymptomatic to rapidly sight-threatening forms. Race, genetic background, and environmental factors can also influence the clinical picture. The pathogenetic mechanism of AU is still poorly defined, given its remarkable heterogeneity and the many discrepancies between experimental and human uveitis. Even so, the onset of AU is thought to be related to an aberrant T cell-mediated immune response, triggered by inflammation and directed against retinal or cross-reactive antigens. B cells may also play a role in uveal antigen presentation and in the subsequent activation of T cells. The management of AU remains a challenge for clinicians, especially because of the paucity of randomized clinical trials that have systematically evaluated the effectiveness of different drugs. In addition to topical treatment, several different therapeutic options are available, although a standardized regimen is thus far lacking. Current guidelines recommend corticosteroids as the first-line therapy for patients with active AU. Immunosuppressive drugs may be subsequently required to treat steroid-resistant AU and for steroid-sparing purposes. The recent introduction of biological agents, such as those targeting tumor necrosis factor-α, is expected to remarkably increase the percentages of responders and to prevent irreversible sight impairment. This paper reviews the clinical features of AU and its crucial pathogenetic targets in relation to the current therapeutic perspectives. Also, the largest clinical trials

  18. Rosacea: clinical features and treatment.

    PubMed

    Lavers, Isabel

    2016-03-30

    Rosacea is a chronic inflammatory skin condition that predominantly affects the central face. It is characterised by a variable range of symptoms, including erythema, telangiectasia, papules, pustules and changes in skin texture. Rosacea may be transient, recurrent or persistent. Because it affects the most visible part of the body, the psychosocial effects of this condition can be significant. This article describes the features and management of the condition.

  19. Clinical Features of Ulcerative Colitis in Korea

    PubMed Central

    Park, Seon Mee; Han, Dong Soo; Yang, Suk-Kyun; Hong, Weon-Seon; Min, Young Il

    1996-01-01

    Objectives : This study was conducted to investigate the clinical features of ulcerative colitis in Korea and to evaluate the clinical course after medical therapy. Methods : Symptoms, signs and results of the treatment were retrospectively analyzed in 66 patients (male 32, female 34) diagnosed to have ulcerative colitis at the Asan Medical Center. Results : The median age of the beginning of symptoms was 36 years (range, 14–72). Diarrhea and rectal bleeding were observed in 95.1 and 91.4%, respectively, at the time of diagnosis, while extra-colonic manifestations were observed in 24.1%. In 41 patients (62.1%), colitis developed in the rectum and sigmoid colon, while left colitis and extensive colitis developed in 11 (16.7%) and 14 patients (21.2%), respectively. The severity of disease was determined according to the clinical criteria, resulting in 22 (33.3%) mild, 21 (31.8%) moderate and 23 (34.8%) severe diseases. The seventy was also classified as 1, 2 and 3 by sigmoido-colonoscopic findings: 1;17 patients(25.8%), 2;27(40.9%) and 22(33.3%). Among 23 patients with severe disease, 5 patients (7.6%) received total colectomy due to toxic megacolon, intractability to medical therapy, ileocolic fistula and intestinal stenosis. The severity determined by colonoscopic findings was well correlated with that determined clinically and was closely related to the severity of symptoms, levels of albumin, hemoglobin and the count of leukocyte. The median duration of symptoms before treatment was 4 weeks (range. 11–300). All patients were treated with sulfasalazine and prednisolone. All patients with medical therapy, except 2 patients (96. 7%), obtained clinical remission. The median days required for remission was 14 (range, 3–70). Relapse rates at 6 months, 1 year and 2 years after the initiation of treatment were 19.7, 34.1 and 49.3%, respectively. The median disease-free interval from the time of remission was 10 months (range, 2–60). After remission, the

  20. Clinical features of gastroenteropancreatic tumours

    PubMed Central

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

    2015-01-01

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

  1. Accuracy in the clinical diagnosis of parkinsonian syndromes.

    PubMed Central

    Gibb, W. R.

    1988-01-01

    This review of Parkinson's disease and related disorders emphasizes the difficulties of distinguishing between variants of the parkinsonian syndrome. Characteristic clinical features may remain absent for many months, but accuracy of diagnosis may be improved by considering certain presenting symptoms and signs. The main characteristics of various parkinsonian syndromes are reviewed and their major distinguishing features are emphasized. Future improvement in the precision of clinical diagnosis, especially early in the course of parkinsonian syndromes, will depend on selecting out patients with Parkinson's disease using positive diagnostic criteria. PMID:3059338

  2. Nerve biopsy findings contribute to diagnosis of multiple mononeuropathy: 78% of findings support clinical diagnosis

    PubMed Central

    Zhang, Ying-shuang; Sun, A-ping; Chen, Lu; Dong, Rong-fang; Zhong, Yan-feng; Zhang, Jun

    2015-01-01

    Multiple mononeuropathy is an unusual form of peripheral neuropathy involving two or more nerve trunks. It is a syndrome with many different causes. We reviewed the clinical, electrophysiological and nerve biopsy findings of 14 patients who suffered from multiple mononeuropathy in our clinic between January 2009 and June 2013. Patients were diagnosed with vasculitic neuropathy (n = 6), perineuritis (n = 2), chronic inflammatory demyelinating polyradiculoneuropathy (n = 2) or Lewis-Sumner syndrome (n = 1) on the basis of clinical features, laboratory data, electrophysiological investigations and nerve biopsies. Two patients who were clinically diagnosed with vasculitic neuropathy and one patient who was clinically diagnosed with chronic inflammatory demyelinating polyradiculoneuropathy were not confirmed by nerve biopsy. Nerve biopsies confirmed clinical diagnosis in 78.6% of the patients (11/14). Nerve biopsy pathological diagnosis is crucial to the etiological diagnosis of multiple mononeuropathy. PMID:25788930

  3. Nerve biopsy findings contribute to diagnosis of multiple mononeuropathy: 78% of findings support clinical diagnosis.

    PubMed

    Zhang, Ying-Shuang; Sun, A-Ping; Chen, Lu; Dong, Rong-Fang; Zhong, Yan-Feng; Zhang, Jun

    2015-01-01

    Multiple mononeuropathy is an unusual form of peripheral neuropathy involving two or more nerve trunks. It is a syndrome with many different causes. We reviewed the clinical, electrophysiological and nerve biopsy findings of 14 patients who suffered from multiple mononeuropathy in our clinic between January 2009 and June 2013. Patients were diagnosed with vasculitic neuropathy (n = 6), perineuritis (n = 2), chronic inflammatory demyelinating polyradiculoneuropathy (n = 2) or Lewis-Sumner syndrome (n = 1) on the basis of clinical features, laboratory data, electrophysiological investigations and nerve biopsies. Two patients who were clinically diagnosed with vasculitic neuropathy and one patient who was clinically diagnosed with chronic inflammatory demyelinating polyradiculoneuropathy were not confirmed by nerve biopsy. Nerve biopsies confirmed clinical diagnosis in 78.6% of the patients (11/14). Nerve biopsy pathological diagnosis is crucial to the etiological diagnosis of multiple mononeuropathy.

  4. Fibromyalgia: clinical features, diagnosis and management.

    PubMed

    Walker, Jennie

    2016-09-28

    Patients with fibromyalgia experience chronic widespread pain, with associated symptoms of fatigue, sleep disturbance and memory problems. There are many therapies which may be helpful in managing the symptoms of fibromyalgia; however, these often require a process of trial and error to establish optimum management using a combination of pharmacological and non-pharmacological approaches. Nurses can support patients with fibromyalgia using a biopsychosocial approach to symptom management. Understanding the nature of fibromyalgia and management options will enable nurses to deliver holistic patient-centred care.

  5. Autistic children: diagnosis and clinical features.

    PubMed

    Rapin, I

    1991-05-01

    Autism is one of the behaviorally defined developmental disorders of brain function. It has a variety of genetic and nongenetic etiologies, with etiology being unknown in the majority of children. Boys are more frequently affected than girls. Manifest in the preschool years, autism always affects sociability, communication, and the child's repertoire of activities and interests. Autism encompasses children with a broad range of severities and a variety of other signs of brain dysfunction. These include motor signs, notably stereotypies; abnormal responses to a variety of sensory stimuli; and disorders of affect and attention. A significant proportion of autistic children experience epileptic seizures and have abnormal EEGs. Neuroimaging, preferably magnetic resonance imaging, discloses abnormalities of brain development in a minority of autistic persons. The level of intelligence may range from profound mental deficiency to giftedness. The pattern of cognitive skills is likely to be uneven, typically with better nonverbal than verbal skills. In the preschool years, all autistic children have a developmental language disorder. Verbal expression may range from total lack of language to verbosity with echolalia; comprehension and language use are invariably impaired. While there is no specific pharmacologic agent to mitigate the fundamental disorder, children may benefit from drugs to treat specific symptoms such as attention disorder and seizures. Although autistic behaviors are the consequence of a static disorder of brain function, their character changes with maturation and appropriate intervention. Communication skills and sociability remain deficient but improve in all but the most severely affected children. Outcome is a function of both innate cognitive competence and the effectiveness of early intervention focused on the development of appropriate social skills and meaningful communication. Intelligent autistic adults may be educable, employable, and able to live independently, while more severely handicapped ones require a lifelong protected environment.

  6. Diagnosis and clinical features of pemphigus vulgaris.

    PubMed

    Venugopal, Supriya S; Murrell, Dédée F

    2012-05-01

    Autoimmune bullous diseases are associated with autoimmunity against structural components that maintain cell-cell and cell-matrix adhesion in the skin and mucous membranes. They include those where the skin blisters at the basement membrane zone and those where the skin blisters within the epidermis (pemphigus vulgaris, pemphigus foliaceus, and other subtypes of pemphigus). The variants of pemphigus are determined according to the level of intraepidermal split formation. There are 5 main variants of pemphigus: pemphigus vulgaris, pemphigus foliaceus, pemphigus erythematosus, drug-induced pemphigus, and paraneoplastic pemphigus. This review focuses only on pemphigus vulgaris.

  7. Diagnosis and clinical features of pemphigus vulgaris.

    PubMed

    Venugopal, Supriya S; Murrell, Dédée F

    2011-07-01

    Autoimmune bullous diseases are associated with autoimmunity against structural components that maintain cell-cell and cell-matrix adhesion in the skin and mucous membranes. They include those where the skin blisters at the basement membrane zone and those where the skin blisters within the epidermis (pemphigus vulgaris, pemphigus foliaceus, and other subtypes of pemphigus). The variants of pemphigus are determined according to the level of intraepidermal split formation. There are 5 main variants of pemphigus: pemphigus vulgaris, pemphigus foliaceus, pemphigus erythematosus, drug-induced pemphigus, and paraneoplastic pemphigus. This review focuses only on pemphigus vulgaris.

  8. 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.

  9. Which ante mortem clinical features predict progressive supranuclear palsy pathology?

    PubMed

    Respondek, Gesine; Kurz, Carolin; Arzberger, Thomas; Compta, Yaroslau; Englund, Elisabet; Ferguson, Leslie W; Gelpi, Ellen; Giese, Armin; Irwin, David J; Meissner, Wassilios G; Nilsson, Christer; Pantelyat, Alexander; Rajput, Alex; van Swieten, John C; Troakes, Claire; Josephs, Keith A; Lang, Anthony E; Mollenhauer, Brit; Müller, Ulrich; Whitwell, Jennifer L; Antonini, Angelo; Bhatia, Kailash P; Bordelon, Yvette; Corvol, Jean-Christophe; Colosimo, Carlo; Dodel, Richard; Grossman, Murray; Kassubek, Jan; Krismer, Florian; Levin, Johannes; Lorenzl, Stefan; Morris, Huw; Nestor, Peter; Oertel, Wolfgang H; Rabinovici, Gil D; Rowe, James B; van Eimeren, Thilo; Wenning, Gregor K; Boxer, Adam; Golbe, Lawrence I; Litvan, Irene; Stamelou, Maria; Höglinger, Günter U

    2017-07-01

    Progressive supranuclear palsy (PSP) is a neuropathologically defined disease presenting with a broad spectrum of clinical phenotypes. To identify clinical features and investigations that predict or exclude PSP pathology during life, aiming at an optimization of the clinical diagnostic criteria for PSP. We performed a systematic review of the literature published since 1996 to identify clinical features and investigations that may predict or exclude PSP pathology. We then extracted standardized data from clinical charts of patients with pathologically diagnosed PSP and relevant disease controls and calculated the sensitivity, specificity, and positive predictive value of key clinical features for PSP in this cohort. Of 4166 articles identified by the database inquiry, 269 met predefined standards. The literature review identified clinical features predictive of PSP, including features of the following 4 functional domains: ocular motor dysfunction, postural instability, akinesia, and cognitive dysfunction. No biomarker or genetic feature was found reliably validated to predict definite PSP. High-quality original natural history data were available from 206 patients with pathologically diagnosed PSP and from 231 pathologically diagnosed disease controls (54 corticobasal degeneration, 51 multiple system atrophy with predominant parkinsonism, 53 Parkinson's disease, 73 behavioral variant frontotemporal dementia). We identified clinical features that predicted PSP pathology, including phenotypes other than Richardson's syndrome, with varying sensitivity and specificity. Our results highlight the clinical variability of PSP and the high prevalence of phenotypes other than Richardson's syndrome. The features of variant phenotypes with high specificity and sensitivity should serve to optimize clinical diagnosis of PSP. © 2017 International Parkinson and Movement Disorder Society. © 2017 International Parkinson and Movement Disorder Society.

  10. LEOPARD syndrome: clinical dilemmas in differential diagnosis of RASopathies

    PubMed Central

    2014-01-01

    Background Diagnosis within RASopathies still represents a challenge. Nevertheless, many efforts have been made by clinicians to identify specific clinical features which might help in differentiating one disorder from another. Here, we describe a child initially diagnosed with Neurofibromatosis-Noonan syndrome. The follow-up of the proband, the clinical evaluation of his father together with a gene-by-gene testing approach led us to the proper diagnosis. Case presentation We report a 8-year-old male with multiple café-au-lait macules, several lentigines and dysmorphic features that suggest Noonan syndrome initially diagnosed with Neurofibromatosis-Noonan syndrome. However, after a few years of clinical and ophthalmological follow-up, the absence of typical features of Neurofibromatosis type 1 and the lack of NF1 mutation led us to reconsider the original diagnosis. A new examination of the patient and his similarly affected father, who was initially referred as healthy, led us to suspect LEOPARD syndrome, The diagnosis was then confirmed by the occurrence in both patients of a heterozygous mutation c.1403 C > T, p.(Thr468Met), of PTPN11. Subsequently, the proband was also found to have type-1 Arnold-Chiari malformation in association with syringomyelia. Conclusion Our experience suggests that differential clinical diagnosis among RASopathies remains ambiguous and raises doubts on the current diagnostic clinical criteria. In some cases, genetic tests represent the only conclusive proof for a correct diagnosis and, consequently, for establishing individual prognosis and providing adequate follow-up. Thus, molecular testing represents an essential tool in differential diagnosis of RASophaties. This view is further strengthened by the increasing accessibility of new sequencing techniques. Finally, to our knowledge, the described case represents the third report of the occurrence of Arnold Chiari malformation and the second description of syringomyelia with

  11. Adaptive feature extraction using sparse coding for machinery fault diagnosis

    NASA Astrophysics Data System (ADS)

    Liu, Haining; Liu, Chengliang; Huang, Yixiang

    2011-02-01

    In the signal processing domain, there has been growing interest in sparse coding with a learned dictionary instead of a predefined one, which is advocated as an effective mathematical description for the underlying principle of mammalian sensory systems in processing information. In this paper, sparse coding is introduced as a feature extraction technique for machinery fault diagnosis and an adaptive feature extraction scheme is proposed based on it. The two core problems of sparse coding, i.e., dictionary learning and coefficients solving, are discussed in detail. A natural extension of sparse coding, shift-invariant sparse coding, is also introduced. Then, the vibration signals of rolling element bearings are taken as the target signals to verify the proposed scheme, and shift-invariant sparse coding is used for vibration analysis. With the purpose of diagnosing the different fault conditions of bearings, features are extracted following the proposed scheme: basis functions are separately learned from each class of vibration signals trying to capture the defective impulses; a redundant dictionary is built by merging all the learned basis functions; based on the redundant dictionary, the diagnostic information is made explicit in the solved sparse representations of vibration signals; sparse features are formulated in terms of activations of atoms. The multiclass linear discriminant analysis (LDA) classifier is used to test the discriminability of the extracted sparse features and the adaptability of the learned atoms. The experiments show that sparse coding is an effective feature extraction technique for machinery fault diagnosis.

  12. Clinical Diagnosis of Thyroid Cancer

    PubMed Central

    Staunton, M. D.; Greening, W. P.

    1973-01-01

    In a survey of 293 patients with carcinoma of the thyroid, a goitre or enlarged lymph nodes in the neck were the commonest symptoms and a mass confined to one lobe the commonest sign. Hardness of the mass was an important diagnostic feature, and at least two-thirds of the tumour could be recognized before operation. It is suggested that the preoperative evaluation of thyroid swellings should be classified as benign, cancer suspected, and cancer probable. PMID:4800743

  13. Pineal cyst: a review of clinical and radiological features.

    PubMed

    Choy, Winward; Kim, Won; Spasic, Marko; Voth, Brittany; Yew, Andrew; Yang, Isaac

    2011-07-01

    Pineal cysts (PCs) are benign and often asymptomatic lesions of the pineal region that are typically small and do not change in size over time. PCs appear as small, well circumscribed, unilocular masses that either reside within or completely replace the pineal gland. This article reviews and discusses the characteristic features of PCs-clinical, histological, and identifiable by various imaging modalities-which assist clinicians in narrowing the differential diagnosis for pineal lesions.

  14. Texture Feature Extraction and Classification for Iris Diagnosis

    NASA Astrophysics Data System (ADS)

    Ma, Lin; Li, Naimin

    Appling computer aided techniques in iris image processing, and combining occidental iridology with the traditional Chinese medicine is a challenging research area in digital image processing and artificial intelligence. This paper proposes an iridology model that consists the iris image pre-processing, texture feature analysis and disease classification. To the pre-processing, a 2-step iris localization approach is proposed; a 2-D Gabor filter based texture analysis and a texture fractal dimension estimation method are proposed for pathological feature extraction; and at last support vector machines are constructed to recognize 2 typical diseases such as the alimentary canal disease and the nerve system disease. Experimental results show that the proposed iridology diagnosis model is quite effective and promising for medical diagnosis and health surveillance for both hospital and public use.

  15. Episodic Ataxias: Clinical and Genetic Features

    PubMed Central

    Choi, Kwang-Dong; Choi, Jae-Hwan

    2016-01-01

    Episodic ataxia (EA) is a clinically heterogeneous group of disorders that are characterized by recurrent spells of truncal ataxia and incoordination lasting minutes to hours. Most have an autosomal dominant inheritance pattern. To date, 8 subtypes have been defined according to clinical and genetic characteristics, and five genes are known to be linked to EAs. Both EA1 and EA2, which are caused by mutations in KCNA1 and CACNA1A, account for the majority of EA, but many patients with no identified mutations still exhibit EA-like clinical features. Furthermore, genetically confirmed EAs have mostly been identified in Caucasian families. In this article, we review the current knowledge on the clinical and genetic characteristics of EAs. Additionally, we summarize the phenotypic features of the genetically confirmed EA2 families in Korea. PMID:27667184

  16. Consistency and distribution of reflectance confocal microscopy features for diagnosis of cutaneous T cell lymphoma

    NASA Astrophysics Data System (ADS)

    Lange-Asschenfeldt, Susanne; Babilli, Jasmin; Beyer, Marc; Ríus-Diaz, Francisca; González, Salvador; Stockfleth, Eggert; Ulrich, Martina

    2012-01-01

    Reflectance confocal microscopy (RCM) represents a noninvasive imaging technique that has previously been used for characterization of mycosis fungoides (MF) in a pilot study. We aimed to test the applicability of RCM for diagnosis and differential diagnosis of MF in a clinical study. A total of 39 test sites of 15 patients with a biopsy-proven diagnosis of either MF, parapsoriasis, Sézary syndrome, or lymphomatoid papulosis were analyzed for presence and absence of RCM features of MF. Cochran and Chi2 analysis were applied to test the concordance between investigators and the distribution of RCM features, respectively. For selected parameters, the Cochran analysis showed good concordance between investigators. Inter-observer reproducibility was highest for junctional atypical lymphocytes, architectural disarray, and spongiosis. Similarly, Chi2 analysis demonstrated that selected features were present at particularly high frequency in individual skin diseases, with values ranging from 73% to 100% of all examined cases.

  17. Clinical and dermatoscopic features of porokeratosis palmaris et plantaris

    PubMed Central

    Udare, Satish; Hemmady, Karishma

    2016-01-01

    A dermatoscope is an important tool in a dermatologist's armamentarium as it can eliminate the need for a biopsy in a wide array of conditions. Porokeratosis was described by Mibelli and Respighi in 1893, as a disorder of keratinization which on the basis of distribution patterns was described as five clinical variants that portrayed a coronoid lamella on histopathology. We describe a case of asymptomatic, long-standing palmar and plantar pits, which on dermatoscopy showed features suggestive of porokeratosis, which was later reconfirmed by histopathologic sections. This report depicts diagnostic features of porokeratosis and obviates the need for invasive procedures for its diagnosis. PMID:27559506

  18. Pediatric surface osteosarcoma: clinical, pathologic, and radiologic features.

    PubMed

    Kaste, Sue C; Fuller, Christine E; Saharia, Ashish; Neel, Michael D; Rao, Bhaskar N; Daw, Najat C

    2006-08-01

    Osteosarcoma (OS) arising from the surface of bone is far less common than its intramedullary counterpart. Although surface OSs share some radiographic and clinical features, they can be divided into three distinct histologic subtypes. We reviewed the clinical, radiographic, and pathologic features of 14 cases of pediatric surface OS treated at St. Jude Children's Research Hospital between 1970 and 2003. Seven patients had parosteal, five had periosteal, and two had high-grade surface OS. The median age at diagnosis was 16.2 years (range, 13.6-18.5 years). Nine patients were male; 11 were Caucasian. None had metastatic disease at diagnosis. Primary tumor sites included distal femur (n = 6), mid to proximal femur (n = 4), and mid to proximal tibia (n = 4). All 14 patients were treated with surgery, and 7 (1 with parosteal, 4 with periosteal, 2 with high-grade tumors) received chemotherapy. One patient experienced pulmonary metastasis of periosteal OS 16 months and 43 months after diagnosis; long-term disease-free survival followed resection of the metastatic tumors. Twelve patients remained alive and disease-free a median of 10 years (range, 1.5-25.4 years) after diagnosis. One patient died of high-grade surface OS 1.8 years after diagnosis, and one patient with periosteal OS died of gastric cancer 18.2 years after diagnosis of OS. The histologic grade predicts the clinical behavior of pediatric surface OS. Complete resection is the treatment of choice regardless of tumor subtype. Whereas chemotherapy is not indicated for parosteal OS, its role in periosteal OS remains controversial.

  19. Influence of Familiar Features on Diagnosis: Instantiated Features in an Applied Setting

    ERIC Educational Resources Information Center

    Dore, Kelly L.; Brooks, Lee R.; Weaver, Bruce; Norman, Geoffrey R.

    2012-01-01

    Medical diagnosis can be viewed as a categorization task. There are two mechanisms whereby humans make categorical judgments: "analytical reasoning," based on explicit consideration of features and "nonanalytical reasoning," an unconscious holistic process of matching against prior exemplars. However, there is evidence that prior experience can…

  20. Influence of Familiar Features on Diagnosis: Instantiated Features in an Applied Setting

    ERIC Educational Resources Information Center

    Dore, Kelly L.; Brooks, Lee R.; Weaver, Bruce; Norman, Geoffrey R.

    2012-01-01

    Medical diagnosis can be viewed as a categorization task. There are two mechanisms whereby humans make categorical judgments: "analytical reasoning," based on explicit consideration of features and "nonanalytical reasoning," an unconscious holistic process of matching against prior exemplars. However, there is evidence that prior experience can…

  1. [Clinical or radiological diagnosis of impingement].

    PubMed

    Kloth, J K; Zeifang, F; Weber, M-A

    2015-03-01

    Shoulder impingement syndrome is a clinically common entity involving trapping of tendons or bursa with typical clinical findings. Important radiological procedures are ultrasound, magnetic resonance imaging (MRI) and MR arthrography. Projection radiography and computed tomography (CT) are ideal to identify bony changes and CT arthrography also serves as an alternative method in cases of contraindications for MRI. These modalities support the clinically suspected diagnosis of impingement syndrome and may identify its cause in primary diagnosis. In addition, effects of impingement are determined by imaging. Therapy decisions are based on a synopsis of radiological and clinical findings. The sensitivity and specificity of these imaging modalities with regard to the diagnostics of a clinically evident impingement syndrome are given in this review article. Orthopedic and trauma surgeons express the suspicion of an impingement syndrome based on patient history and physical examination and radiologists confirm structural changes and damage of intra-articular structures using dedicated imaging techniques.

  2. Clinical and imaging features of fludarabine neurotoxicity.

    PubMed

    Lee, Michael S; McKinney, Alexander M; Brace, Jeffrey R; Santacruz, Karen

    2010-03-01

    Neurotoxicity from intravenous fludarabine is a rare but recognized clinical entity. Its brain imaging features have not been extensively described. Three patients received 38.5 mg or 40 mg/m per day fludarabine in a 5-day intravenous infusion before bone marrow transplantation in treatment of hematopoietic malignancies. Several weeks later, each patient developed progressive neurologic decline, including retrogeniculate blindness, leading to coma and death. Brain MRI showed progressively enlarging but mild T2/FLAIR hyperintensities in the periventricular white matter. The lesions demonstrated restricted diffusion but did not enhance. Because the neurotoxicity of fludarabine appears long after exposure, neurologic decline in this setting is likely to be attributed to opportunistic disease. However, the imaging features are distinctive in their latency and in being mild relative to the profound clinical features. The safe dose of fludarabine in this context remains controversial.

  3. Clinical and microbiological diagnosis of oral candidiasis

    PubMed Central

    Jiménez-Soriano, Yolanda

    2013-01-01

    Introduction: Candidiasis or oral candidiasis is the most frequent mucocutaneous mycosis of the oral cavity. It is produced by the genus Candida, which is found in the oral cavity of 53% of the general population as a common commensal organism. One hundred and fifty species have been isolated in the oral cavity, and 80% of the isolates correspond to Candida albicans, which can colonize the oral cavity alone or in combination with other species. Transformation from commensal organism to pathogen depends on the intervention of different predisposing factors that modify the microenvironment of the oral cavity and favor the appearance of opportunistic infection. The present study offers a literature review on the diagnosis of oral candidiasis, with the purpose of establishing when complementary microbiological techniques for the diagnosis of oral candidiasis should be used, and which techniques are most commonly employed in routine clinical practice in order to establish a definitive diagnosis. Materials and methods: A Medline-PubMed, Scopus and Cochrane search was made covering the last 10 years. Results: The diagnosis of oral candidiasis is fundamentally clinical. Microbiological techniques are used when the clinical diagnosis needs to be confirmed, for establishing a differential diagnosis with other diseases, and in cases characterized by resistance to antifungal drugs. Biopsies in turn are indicated in patients with hyperplastic candidiasis. Staining (10% KOH) and culture (Sabouraud dextrose agar) are the methods most commonly used for diagnosing primary candidiasis. Identification of the individual species of Candida is usually carried out with CHROMagar Candida®. For the diagnosis of invasive candidiasis, and in cases requiring differentiation between C. albicans and C. dubliniensis, use is made of immunological and genetic techniques such as ELISA and PCR. Key words:Clinical, oral candidiasis, microbiology. PMID:24455095

  4. Intramedullary gangliogliomas: clinical features, surgical outcomes, and neuropathic scoliosis.

    PubMed

    Yang, Chenlong; Li, Guang; Fang, Jingyi; Wu, Liang; Yang, Tao; Deng, Xiaofeng; Xu, Yulun

    2014-01-01

    Intramedullary spinal cord gangliogliomas are rare tumors composed of glial components and ganglion cells. These gangliogliomas are generally considered as slow-growing tumors, corresponding histologically to WHO grade I or II. There are few reports of large case series of intramedullary spinal cord gangliogliomas from a single center. We retrospectively reviewed a consecutive series of 18 patients with pathologically diagnosed ganglioglioma. Clinical manifestations, radiological features, treatment and follow-up data, and concomitant scoliosis were investigated. The mean age at diagnosis was 27.5 years, with a slight female predominance. The primary clinical symptoms were sensorimotor deficits. Magnetic resonance (MR) imaging manifestations varied considerably. Some associated, but not necessary, features were found, such as young age at onset, large tumor dimension, and bony changes. Scoliosis was observed in seven patients. Remnant tumor progression was observed in five patients during the follow-up period, and no deaths occurred. The last neurological evaluation showed functional improvement from preoperative status in five patients. Differential diagnosis of ganglioglioma based on MR images alone is challenging, but the combination of some characteristic features can be helpful. An accurate diagnosis of ganglioglioma depends on pathological criteria. Despite the benign course of ganglioglioma, considerable growth may affect its resectability and prognosis. The extent of resection should be meticulously planned, and the potential risk of recurrence and neurological deterioration should be evaluated. The concomitant scoliosis is noteworthy.

  5. Accuracy of clinical diagnosis in knee arthroscopy.

    PubMed Central

    Brooks, Stuart; Morgan, Mamdouh

    2002-01-01

    A prospective study of 238 patients was performed in a district general hospital to assess current diagnostic accuracy rates and to ascertain the use and the effectiveness of magnetic resonance imaging (MRI) scanning in reducing the number of negative arthroscopies. The pre-operative diagnosis of patients listed for knee arthroscopy was medial meniscus tear 94 (40%) and osteoarthritis 59 (25%). MRI scans were requested in 57 patients (24%) with medial meniscus tear representing 65% (37 patients). The correlation study was done between pre-operative diagnosis, MRI and arthroscopic diagnosis. Clinical diagnosis was as accurate as the MRI with 79% agreement between the preoperative diagnosis and arthroscopy compared to 77% agreement between MRI scan and arthroscopy. There was no evidence, in this study, that MRI scan can reduce the number of negative arthroscopies. Four normal MRI scans had positive arthroscopic diagnosis (two torn medial meniscus, one torn lateral meniscus and one chondromalacia patella). Out of 240 arthroscopies, there were only 10 normal knees (negative arthroscopy) representing 4% of the total number of knee arthroscopies; one patient of those 10 cases had MRI scan with ACL rupture diagnosis. Images Figure 1 Figure 2 PMID:12215031

  6. Automatic Diagnosis of Mild Cognitive Impairment Using Electroencephalogram Spectral Features.

    PubMed

    Kashefpoor, Masoud; Rabbani, Hossein; Barekatain, Majid

    2016-01-01

    Alzheimer's disease (AD) is one of the most expensive and fatal diseases in the elderly population. Up to now, no cure have been found for AD, so early stage diagnosis is the only way to control it. Mild cognitive impairment (MCI) usually is the early stage of AD which is defined as decreasing in mental abilities such a cognition, memory, and speech not too severe to interfere daily activities. MCI diagnosis is rather hard and usually assumed as normal consequences of aging. This study proposes an accurate, mobile, and nonexpensive diagnostic approach based on electroencephalogram (EEG) signal. EEG signals were recorded using 19 electrodes positioned according to the 10-20 International system at resting eyes closed state from 16 normal and 11 MCI participants. Nineteen Spectral features are computed for each channel and examined using a correlation based algorithm to select the best discriminative features. Selected features are classified using a combination of neurofuzzy system and k-nearest neighbor classifier. Final results reach 88.89%, 100%, and 83.33% for accuracy, sensitivity, and specificity, respectively, which shows the potential of proposed method to be used as an MCI diagnostic tool, especially for screening a large population.

  7. Automatic Diagnosis of Mild Cognitive Impairment Using Electroencephalogram Spectral Features

    PubMed Central

    Kashefpoor, Masoud; Rabbani, Hossein; Barekatain, Majid

    2016-01-01

    Alzheimer's disease (AD) is one of the most expensive and fatal diseases in the elderly population. Up to now, no cure have been found for AD, so early stage diagnosis is the only way to control it. Mild cognitive impairment (MCI) usually is the early stage of AD which is defined as decreasing in mental abilities such a cognition, memory, and speech not too severe to interfere daily activities. MCI diagnosis is rather hard and usually assumed as normal consequences of aging. This study proposes an accurate, mobile, and nonexpensive diagnostic approach based on electroencephalogram (EEG) signal. EEG signals were recorded using 19 electrodes positioned according to the 10–20 International system at resting eyes closed state from 16 normal and 11 MCI participants. Nineteen Spectral features are computed for each channel and examined using a correlation based algorithm to select the best discriminative features. Selected features are classified using a combination of neurofuzzy system and k-nearest neighbor classifier. Final results reach 88.89%, 100%, and 83.33% for accuracy, sensitivity, and specificity, respectively, which shows the potential of proposed method to be used as an MCI diagnostic tool, especially for screening a large population. PMID:27014609

  8. [Clinical features and comorbidities of Asperger syndrome in children].

    PubMed

    Fu, Xiao-Yan; Xie, Xiao-Tian; Mei, Zhu; Cheng, Wen-Hong

    2013-09-01

    To investigate and summarize the clinical features and comorbidities of Asperger syndrome (AS) in children and to provide a theoretical basis for improving the understanding and diagnosis of AS. Inquiry of medical history, physical examination, behavioral observation, psychiatric examination, questionnaire survey, and the Wechsler Intelligence Scale were used to summarize and analyse the clinical data of 95 children with AS, including chief complaint, symptoms, perinatal and familial conditions, family genetic history, and common comorbidities. AS was more common in male children, with hyperactivity, inattention, and social withdrawal as frequent chief complaints. The main clinical manifestations included poor communication skills (95%), restricted interest (82%), repetitive and stereotyped patterns of behavior (77%), semantic comprehension deficit (74%), and indiscipline (68%). Verbal IQ was higher than performance IQ in most patients. The comorbidities of AS included attention deficit hyperactivity disorder (ADHD) (39%), emotional disorder (18%), and schizophrenia (2%); emotional disorder was more common in patients aged 13-16 years, while ADHD was more common in patients aged 7-16 years. Among these patients, 61% had fathers with introverted personality, 43% had mothers with introverted personality, and 19% had a family history of mental illness. AS has specific clinical manifestations. It is essential to know more about the clinical features and comorbidities of AS, which is helpful for early identification and diagnosis of AS.

  9. Extracting autofluorescence spectral features for diagnosis of nasopharyngeal carcinoma

    NASA Astrophysics Data System (ADS)

    Lin, L. S.; Yang, F. W.; Xie, S. S.

    2012-09-01

    The aim of this study is to investigate the autofluorescence spectral characteristics of normal and cancerous nasopharyngeal tissues and to extract the potential spectral features for diagnosis of nasopharyngeal carcinoma (NPC). The autofluorescence excitation-emission matrix (EEM) of 37 normal and 34 cancerous nasopharyngeal tissues were recorded by a FLS920 spectrofluorimeter system in vitro. Based on the alteration in proportions of collagen and NAD(P)H, the integrated fluorescence intensity of I 455 ± 10 nm and I 380 ± 10 nm were used to calculated the ratio values by a two-peak ratio algorithm to diagnose NPC tissues at 340 nm excited. Furthermore by applying the receiver operating characteristic curve (ROC), the 340 nm excitation yielded an average sensitivity and specificity of 88.2 and 91.9%, respectively. These results may have practical implications for diagnosis of NPC.

  10. Orofacial tuberculosis: Clinical manifestations, diagnosis and management

    PubMed Central

    Bansal, Ramta; Jain, Aditya; Mittal, Sunandan

    2015-01-01

    Orofacial tuberculosis (TB) is an uncommon form of extrapulmonary TB and is nonspecific in its clinical presentation. It can be misdiagnosed especially when oral lesions are present before systemic symptoms become apparent. Doctors especially attending dentist who generally is the first among clinicians to come across such pathological entity should be aware of the orofacial lesions of TB and consider them in the differential diagnosis of suspicious oral lesions to ensure early diagnosis of TB and its treatment. In this review, we have discussed in detail the clinical presentation of various forms of orofacial TB, diagnosis, and management of patients. Also, an update is provided about recent anti-TB drug development. PMID:26288770

  11. Neural network feature selection for breast cancer diagnosis

    NASA Astrophysics Data System (ADS)

    Kocur, Catherine M.; Rogers, Steven K.; Bauer, Kenneth W., Jr.; Steppe, Jean M.; Hoffmeister, Jeffrey W.

    1995-04-01

    More than 50 million women over the age of 40 are currently at risk for breast cancer in the United States. Computer-aided diagnosis, as a second opinion to radiologists, will aid in decreasing the number of false readings of mammograms. Neural network benefits are exploited at both the classification and feature selection stages in the development of a computer-aided breast cancer diagnostic system. The multilayer perceptron is used to classify and contrast three features (angular second moment, eigenmasses, and wavelets) developed to distinguish benign from malignant lesion in a database of 94 difficult-to-diagnose digitized microcalcification cases. System performance of 74 percent correct classifications is achieved. Feature selection techniques are presented which further improve performance. Neural and decision boundary-based methods are implemented, compared, and validated to isolate and remove useless features. The contribution from this analysis is an increase to 88 percent correct classification in system performance. These feature selection techniques can also process risk factor data.

  12. A cascade classifier for diagnosis of melanoma in clinical images.

    PubMed

    Sabouri, P; GholamHosseini, H; Larsson, T; Collins, J

    2014-01-01

    Computer aided diagnosis of medical images can help physicians in better detecting and early diagnosis of many symptoms and therefore reducing the mortality rate. Realization of an efficient mobile device for semi-automatic diagnosis of melanoma would greatly enhance the applicability of medical image classification scheme and make it useful in clinical contexts. In this paper, interactive object recognition methodology is adopted for border segmentation of clinical skin lesion images. In addition, performance of five classifiers, KNN, Naïve Bayes, multi-layer perceptron, random forest and SVM are compared based on color and texture features for discriminating melanoma from benign nevus. The results show that a sensitivity of 82.6% and specificity of 83% can be achieved using a single SVM classifier. However, a better classification performance was achieved using a proposed cascade classifier with the sensitivity of 83.06% and specificity of 90.05% when performing ten-fold cross validation.

  13. Cutaneous syncytial myoepithelioma:: Clinico-pathological features and differential diagnosis.

    PubMed

    Pizzi, Marco; Facchin, Federico; Kohlscheen, Eva; Sartore, Leonardo; Salmaso, Roberto; Bassetto, Franco

    2016-10-01

    Cutaneous syncytial myoepithelioma (CSM) is a very rare tumor belonging to the spectrum of skin myoepithelial lesions. CSM usually affects the upper extremities of young to middle aged patients and is characterized by peculiar morphological and immunohistochemical features. Unlike classic myoepithelioma, CSM is composed by a densely packed proliferation of spindled to histiocytoid cells, which are variably positive for EMA, S100, SMA, and frequently negative for cytokeratins and GFAP. The peculiar histopathology and the extreme rarity of such lesion (less than 40 cases reported in the literature) can make the diagnosis of CSM a true challenge. In the present case, we report the clinico-pathological features of a primary CSM occurring in a 38 year-old Caucasian man. The differential diagnoses of such lesion are also briefly discussed.

  14. Clinical features and course of ocular toxocariasis in adults.

    PubMed

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

    2014-06-01

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

  15. Cellulitis: definition, etiology, and clinical features.

    PubMed

    Gunderson, Craig G

    2011-12-01

    Cellulitis is a common condition seen by physicians. Over the past decade, skin and soft tissue infections from community-associated methicillin-resistant Staphylococcus aureus have become increasingly common. In this article, the definition, etiology, and clinical features of cellulitis are reviewed, and the importance of differentiating cellulitis from necrotizing soft tissue infections is emphasized. Empiric antimicrobial recommendations are suggested, including the most recent recommendations from the Infectious Disease Society of America.

  16. Idiopathic Pulmonary Fibrosis: Diagnosis and Clinical Manifestations

    PubMed Central

    Nakamura, Yutaro; Suda, Takafumi

    2015-01-01

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

  17. Parasomnias: clinical features and forensic implications.

    PubMed

    Bornemann, Michel A Cramer; Mahowald, Mark W; Schenck, Carlos H

    2006-08-01

    Parasomnias are undesirable behavioral or experiential phenomena arising from the sleep period. Once felt to be a unitary phenomenon, it is now clear that a wide variety of sleep disorders are capable of resulting in complex behaviors arising during sleep. The most common are disorders of arousal and rapid eye movement sleep disorder. Less common conditions include nocturnal seizures and psychogenic dissociative states. Malingering and Munchausen syndrome by proxy, while they are not actually parasomnias, may masquerade as parasomnias. Careful clinical and sleep laboratory evaluation can usually provide an accurate diagnosis with effective therapeutic implications. Due to the potential forensic implications, sleep medicine specialists may be asked to participate in legal proceedings resulting from sleep-related violence. An awareness of the spectrum of such behaviors, and their clinical and legal evaluation, is becoming more important in the practice of sleep medicine.

  18. [Genotypic and clinical features of spinal muscular atrophy type 3].

    PubMed

    Wang, Yan-yun; Feng, Shan-wei; Cao, Ji-qing; Yang, Juan; Li, Ya-qin; Li, Jin; Zhang, Cheng

    2012-04-01

    To explore the genotypic and clinical features and laboratory examinations of spinal muscular atrophy type 3 (SMA III). Results of genetic testing and laboratory exams of 18 SMA III patients were collected and analyzed. The average age of onset of patients was 6.1 years, with the course of disease lasting from 13 months to 28 years. All patients became symptomatic with lower extremity muscle weakness. The symptoms gradually aggregated, with proximal lower limb muscle becoming atrophic and proximal upper limb muscle becoming weak. Genetic testing indicated that all subjects possessed homozygous deletions of SMN1 gene. Electromyography (EMG) of 15 subjects indicated neurogenic damage. Whilst younger patients had normal level of creatine kinase (CK), elder patients had higher level of CK, though no linear correlation was found. Full understanding of Clinical, especially the growth features of SMA III, in combination with genetic testing, can facilitate diagnosis and early intervention of the disease.

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

    PubMed

    Abuladze, M V; Sharabidze, N G

    2006-10-01

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

  20. Automatic diagnosis of lumbar disc herniation with shape and appearance features from MRI

    NASA Astrophysics Data System (ADS)

    Alomari, Raja'S.; Corso, Jason J.; Chaudhary, Vipin; Dhillon, Gurmeet

    2010-03-01

    Intervertebral disc herniation is a major reason for lower back pain (LBP), which is the second most common neurological ailment in the United States. Automation of herniated disc diagnosis reduces the large burden on radiologists who have to diagnose hundreds of cases each day using clinical MRI. We present a method for automatic diagnosis of lumbar disc herniation using appearance and shape features. We jointly use the intensity signal for modeling the appearance of herniated disc and the active shape model for modeling the shape of herniated disc. We utilize a Gibbs distribution for classification of discs using appearance and shape features. We use 33 clinical MRI cases of the lumbar area for training and testing both appearance and shape models. We achieve over 91% accuracy in detection of herniation in a cross-validation experiment with specificity of 91% and sensitivity of 94%.

  1. Velopharyngeal insufficiency, submucous cleft palate and a phonological disorder as the associated clinical features which led to the diagnosis of Jacobsen syndrome. Case report and review of the literature.

    PubMed

    Ysunza, Antonio; Shaheen, Kenneth; Aughton, David J; Micale, Mark A; Merson, Richard; Rutkowski, Kris

    2013-09-01

    Jacobsen syndrome is an uncommon but well-known contiguous gene syndrome caused by partial deletion involving the long arm of chromosome 11. Most common features include: psychomotor impairment, facial dysmorphism, and thrombocytopenia. Cleft palate has been rarely reported. A case of Jacobsen syndrome confirmed by cytogenomic analysis is presented with review of the literature. Main clinical features were phonological disorder, submucous cleft palate (SMCP) and velopharyngeal insufficiency (VPI). VPI was corrected surgically according to findings of videonasopharyngoscopy and videofluoroscopy. It is concluded that clinicians should consider that VPI associated with SMCP may be the main manifestations of a chromosomal syndrome.

  2. Clinical and Ultrasonographic Features of Secondary Intussusception in Children.

    PubMed

    Zhang, Yao; Dong, Qian; Li, Shi-Xing; Ren, Wei-Dong; Shi, Bo; Bai, Yu-Zuo; Zhang, Shu-Cheng; Zheng, Li-Qiang

    2016-12-01

    The aim of this study was to review the ultrasonographic features of secondary intussusception (SI) in children and assess the value of ultrasound in the diagnosis of pediatric SI. The authors performed a retrospective analysis on the ultrasound findings of 1977 cases of primary intussusception (PI) and 37 cases of SI in children. The SI cases were diagnosed by ultrasonography and confirmed by laparotomy or histopathologic diagnosis. The clinical and ultrasonographic features were analyzed and compared between these two groups. The age, no flatus or defecation, position, diameter and length of intussusception, the presence of free intraperitoneal liquid, and intestinal dialation at the proximal end present, all contributed to the differentiation between PI and SI (all P < 0.05). Ultrasound was able to demonstrate the pathological lead point (PLP) shadows in all of the 37 SI cases, either in the cervical part or intussusceptum of the intussusception. Among the 37 SI patients, 21 cases (56.8 %) were accurately categorized with lesions, including intestinal polyps, cystic intestinal duplication, intestinal wall lymphoma, and a small part of Meckel's diverticulum. Ultrasound can be used as a feasible and effective method to discriminate PI from SI. Once the PLP is detected, a definite diagnosis can be made. • The clinical and ultrasonographic features were compared between SI and PI. • The age, location, diameter and length of intussusception, and intestinal dilation were distinguishing features. • The causes of SI were found to be polyps, intestinal duplication, lymphoma, and Meckel's diverticulum. • Ultrasound can be used as an important method to diagnose SI. • Demonstration and confirmation of PLP are vital to diagnosing SI.

  3. Primary Sjogren syndrome: clinical and immunopathologic features.

    PubMed

    Fox, R I; Howell, F V; Bone, R C; Michelson, P

    1984-11-01

    Primary Sjogren syndrome is an autoimmune condition in which dry eyes (keratoconjunctivitis sicca) and dry mouth (xerostomia) result from lymphocytic infiltration of lacrimal and salivary glands. Clinical and laboratory features of 60 primary Sjogren syndrome patients seen at our clinic during the past three years are presented. These patients illustrate the wide spectrum of extraglandular features that may occur as a result of lymphoid infiltration of lung, kidney, skin, stomach, liver, and muscle. They further emphasize the difficulty in classifying a patient as primary or secondary Sjogren syndrome (ie, sicca symptoms associated with systemic lupus erythematosus, rheumatoid arthritis, or scleroderma), particularly early in the disease course. As an initial step in understanding the pathogenesis, the lymphocytes that infiltrate the salivary glands and lymph nodes were characterized by using monoclonal antibodies that recognize distinct lymphocyte subsets and by using in vitro functional assays. These studies have demonstrated that affected tissues have infiltrates of T cells with helper/inducer activity and with a high frequency of "activation antigens." The immunohistologic techniques are useful in differentiating "benign" and "pseudolymphoma" lesions (both due predominantly to T cells) from non-Hodgkin lymphoma (usually due to B-cell infiltrates). Although there is no "cure" for primary Sjogren syndrome patient's symptoms may be significantly improved by measures aimed at prevention of ocular and dental complications and by the recognition of extraglandular features that may be amenable to specific treatment.

  4. Hybrid facial image feature extraction and recognition for non-invasive chronic fatigue syndrome diagnosis.

    PubMed

    Chen, Yunhua; Liu, Weijian; Zhang, Ling; Yan, Mingyu; Zeng, Yanjun

    2015-09-01

    Due to an absence of reliable biochemical markers, the diagnosis of chronic fatigue syndrome (CFS) mainly relies on the clinical symptoms, and the experience and skill of the doctors currently. To improve objectivity and reduce work intensity, a hybrid facial feature is proposed. First, several kinds of appearance features are identified in different facial regions according to clinical observations of traditional Chinese medicine experts, including vertical striped wrinkles on the forehead, puffiness of the lower eyelid, the skin colour of the cheeks, nose and lips, and the shape of the mouth corner. Afterwards, such features are extracted and systematically combined to form a hybrid feature. We divide the face into several regions based on twelve active appearance model (AAM) feature points, and ten straight lines across them. Then, Gabor wavelet filtering, CIELab color components, threshold-based segmentation and curve fitting are applied to extract features, and Gabor features are reduced by a manifold preserving projection method. Finally, an AdaBoost based score level fusion of multi-modal features is performed after classification of each feature. Despite that the subjects involved in this trial are exclusively Chinese, the method achieves an average accuracy of 89.04% on the training set and 88.32% on the testing set based on the K-fold cross-validation. In addition, the method also possesses desirable sensitivity and specificity on CFS prediction.

  5. Clinical features of idiopathic inflammatory polymyopathy in the Hungarian Vizsla.

    PubMed

    Tauro, Anna; Addicott, Diane; Foale, Rob D; Bowman, Chloe; Hahn, Caroline; Long, Sam; Massey, Jonathan; Haley, Allison C; Knowler, Susan P; Day, Michael J; Kennedy, Lorna J; Rusbridge, Clare

    2015-04-21

    A retrospective study of the clinicopathological features of presumed and confirmed cases of idiopathic inflammatory polymyopathy in the Hungarian Vizsla dog and guidelines for breeding. 369 medical records were reviewed (1992-2013) and 77 Hungarian Vizslas were identified with a case history consistent with idiopathic inflammatory polymyopathy. Inclusion criteria were: group 1 (confirmed diagnosis); histopathology and clinical findings compatible with an inflammatory polymyopathy and group 2 (probable diagnosis); clinical findings compatible with a polymyopathy including dysphagia, sialorrhea, temporal muscle atrophy, elevated serum creatine kinase (CK) activity, and sufficient clinical history to suggest that other neuromuscular disorders could be ruled out. Some group 2 dogs had muscle biopsy, which suggested muscle disease but did not reveal an inflammatory process. The mean age of onset was 2.4 years; male dogs were slightly overrepresented. Common presenting signs were dysphagia, sialorrhea, masticatory muscle atrophy, and regurgitation. Common muscle histopathological findings included degenerative and regenerative changes, with multifocal mononuclear cell infiltration with lymphoplasmacytic myositis of variable severity. A positive response to immunosuppressive treatment supported an immune-mediated aetiology. The mean age at death and survival time were 6.4 and 3.9 years, respectively. Recurrence of clinical signs and aspiration pneumonia were common reasons for euthanasia. Diagnosis of Vizsla idiopathic inflammatory polymyopathy can be challenging due to lack of specific tests, however the presence of dysphagia, regurgitation and masticatory muscle atrophy in this breed with negative serological tests for masticatory muscle myositis and myasthenia gravis, along with muscle biopsies suggesting an inflammatory process, support the diagnosis. However, there is an urgent need for a more specific diagnostic test. The average of inbreeding coefficient (Co

  6. Clinical and Laboratory Diagnosis of Peroxisomal Disorders.

    PubMed

    Wanders, Ronald J A; Klouwer, Femke C C; Ferdinandusse, Sacha; Waterham, Hans R; Poll-Thé, Bwee Tien

    2017-01-01

    The peroxisomal disorders (PDs) are a heterogeneous group of genetic diseases in man caused by an impairment in peroxisome biogenesis or one of the metabolic functions of peroxisomes. Thanks to the revolutionary technical developments in gene sequencing methods and their increased use in patient diagnosis, the field of genetic diseases in general and peroxisomal disorders in particular has dramatically changed in the last few years. Indeed, several novel peroxisomal disorders have been identified recently and in addition it has been realized that the phenotypic spectrum of patients affected by a PD keeps widening, which makes clinical recognition of peroxisomal patients increasingly difficult. Here, we describe these new developments and provide guidelines for the clinical and laboratory diagnosis of peroxisomal patients.

  7. Basal cell carcinoma: clinical and pathological features.

    PubMed

    Di Stefani, A; Chimenti, S

    2015-08-01

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

  8. Venous malformations: clinical diagnosis and treatment.

    PubMed

    Behravesh, Sasan; Yakes, Wayne; Gupta, Nikhil; Naidu, Sailendra; Chong, Brian W; Khademhosseini, Ali; Oklu, Rahmi

    2016-12-01

    Venous malformation (VM) is the most common type of congenital vascular malformation (CVM). They are present at birth and are often symptomatic, causing morbidity and pain. VMs can be challenging to diagnose and are often confused with hemangioma in terminology as well as with imaging. An accurate clinical history and cross-sectional imaging are critical for diagnosis and for devising management. This manuscript will review imaging approaches to diagnosing VMs and current treatment strategies.

  9. Venous malformations: clinical diagnosis and treatment

    PubMed Central

    Behravesh, Sasan; Yakes, Wayne; Gupta, Nikhil; Naidu, Sailendra; Chong, Brian W.; Khademhosseini, Ali

    2016-01-01

    Venous malformation (VM) is the most common type of congenital vascular malformation (CVM). They are present at birth and are often symptomatic, causing morbidity and pain. VMs can be challenging to diagnose and are often confused with hemangioma in terminology as well as with imaging. An accurate clinical history and cross-sectional imaging are critical for diagnosis and for devising management. This manuscript will review imaging approaches to diagnosing VMs and current treatment strategies. PMID:28123976

  10. 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.

  11. [Corneal macular dystrophy: clinical, histopathologic and ultrastructural features].

    PubMed

    Gulias-Cañizo, R; Castañeda-Díez, R; Gómez-Leal, A; Klintworth, G K; Rodríguez-Reyes, A A

    2006-06-01

    To assess the main clinical, genetic, histopathological and ultrastructural features of Mexican patients with macular corneal dystrophy, and to compare the results with those previously reported. We analyzed six cases where a histopathologic diagnosis of macular corneal dystrophy had been made between 1957 and 2004. Clinically, all corneas showed focal grayish-white stromal opacities with diffuse edges. Histopathologically, intrastromal granules stained strongly positive with Alcian blue and colloidal iron. Transmission electron microscopy showed enlargement of smooth endoplasmic reticulum and the presence of intracytoplasmic vacuoles that corresponded to glycosaminoglycans. Genetic analysis showed novel mutations in the CHST6 gene in 2 of the patients. Females were more affected than males and the mean age at the time of diagnosis was older than that reported previously, however the clinical, histopathological and ultrastructural features were similar to those of previous reports. As described in other cases in the literature, in some instances a disorder is found in CHST6 gene as a basis for this condition.

  12. Clinical presentations and diagnosis of brucellosis.

    PubMed

    Ulu-Kilic, Aysegul; Metan, Gökhan; Alp, Emine

    2013-04-01

    Brucellosis is a worldwide zoonosis caused by Brucella species. The disease remains a significant economic and public health problem particularly in the Mediterranean countries. Clinical manifestations of brucellosis are variable and often nonspecific, simulating infectious and noninfectious diseases. Osteoarticular involvement is the most common focal complication of brucellosis and morbidity. Mortality rate due to brucellosis is low, mostly secondary to endocarditis and central nerve involvement of disease. The diagnosis of brucellosis depends on the clinical presentations and laboratory tests. Detection of Brucella species by culture method is sometimes unsuccessful; therefore, serological tests are preferred. These tests are easy to perform, and results can be obtained within a short span of time. Several serologic tests have been developed for the diagnosis of human brucellosis, including the standard agglutination tube (SAT) test, anti-human globulin (Coombs) test, indirect fluorescence antibody (IFA) test, and enzyme-linked immunosorbent assay (ELISA). SAT is the primary test used in many clinical laboratories. IFA and ELISA are simple and reliable for the detection of immunoglobulin classes especially in complicated cases. Polymerase chain reaction (PCR) technique is highly sensitive and specific for the determination of Brucella spp. from peripheral blood and other tissues. Recent patents are especially based on molecular assays in the diagnosis of brucellosis. However, PCR is still expensive and may not be appropriate for daily practice.

  13. Dual diagnosis among physicians: a clinical perspective.

    PubMed

    Braquehais, María Dolores; Lusilla, Pilar; Bel, Miquel Jordi; Navarro, María Cecilia; Nasillo, Viviana; Díaz, Albert; Valero, Sergi; Padrós, Jaume; Bruguera, Eugeni; Casas, Miquel

    2014-01-01

    Co-occurrence of mental disorders and substance use disorders (dual diagnosis) among doctors is a cause of serious concern due to its negative personal, professional, and social consequences. This work provides an overview of the prevalence of dual diagnosis among physicians, suggests a clinical etiological model to explain the development of dual diagnosis in doctors, and recommends some treatment strategies specifically for doctors. The most common presentation of dual diagnosis among doctors is the combination of alcohol use disorders and affective disorders. There are also high rates of self-medication with benzodiazepines, legal opiates, and amphetamines compared to the general population, and cannabis use disorders are increasing, mainly in young doctors. The prevalence of nicotine dependence varies from one country to another depending on the nature of public health policies. Emergency medicine physicians, psychiatrists, and anaesthesiologists are at higher risk for developing a substance use disorder compared with other doctors, perhaps because of their knowledge of and access to certain legal drugs. Two main pathways may lead doctors toward dual diagnosis: (a) the use of substances (often alcohol or self-prescribed drugs) as an unhealthy strategy to cope with their emotional or mental distress and (b) the use of substances for recreational or other purposes. In both cases, doctors tend to delay seeking help once a problem has been established, often for many years. Denial, minimization, and rationalization are common defense mechanisms, maybe because of the social stigma associated with mental or substance use disorders, the risk of losing employment/medical license, and a professional culture of perfectionism and denial of emotional needs or failures. Personal vulnerability interacts with these factors to increase the risk of a dual diagnosis developing in some individuals. When doctors with substance use disorders accept treatment in programs

  14. Clinical Features and Extraintestinal Manifestations of Crohn Disease in Children

    PubMed Central

    Lee, Young Ah; Chun, Peter; Hwang, Eun Ha; Mun, Sang Wook; Lee, Yeoun Joo

    2016-01-01

    Purpose The aim of this study was to investigate the clinical features and extraintestinal manifestations (EIMs) of Crohn disease (CD) in Korean pediatric patients. Methods The medical records of 73 children diagnosed with CD were retrospectively reviewed. Data regarding baseline demographic and clinical characteristics, including CD phenotype at diagnosis based on the Montreal classification, and clinical features and course of EIMs were investigated. Results Fifty-two (71.2%) of the patients were males. The mean age of the patients was 12.5 years. The mean follow-up period was 3.4 years. The disease location was ileal in 3 (4.1%) of the patients, colonic in 13 (17.8%), ileocolonic in 56 (76.7%). The clinical behavior was inflammatory in 62 (84.9%) of the patients, stricturing in 8 (11.0%), and penetrating in 3 (4.1%). Perianal abscesses or fistulas were found in 37 (50.7%) of the patients. EIMs observed during the study period were anal skin tag in 25 patients (34.2%), hypertransaminasemia in 20 (27.4%), peripheral arthritis in 2 (2.7%), erythema nodosum in 2 (2.7%), vulvitis in 1 (1.4%), uveitis in 1 (1.4%), and pulmonary thromboembolism in 1 (1.4%). Conclusion Perianal diseases and manifestations were present in more than half of Korean pediatric CD patients at diagnosis. Inspection of the anus should be mandatory in Korean children with suspicious CD, as perianal fistulas, abscesses, and anal skin tags may be the first clue to the diagnosis of CD. PMID:28090468

  15. [Clinical and hematologic features of pediatric leukemias].

    PubMed

    Hasanbegović, Edo

    2006-01-01

    to present main clinical and hematologic features of pediatric leukemias treated at Hematooncologic department of Pediatric Clinic in Sarajevo during last 7 years. In retrospective study we followed up children with leukemia aged 0-15 who were treated during period of 01.01.1997-31.12.2003. at Hematooncologic department on Pediatric Clinic in Sarajevo. A total number of patient with leukemia was 130 of them 112 (83.2%) had acute lymphoblastic leukemia (ALL), 16 (12.3%) of them had acute myeloid leukemia (AML) and 2 (1.5%) patients had chronic myeloid leukemia (CML). There were 84 (64.6%) boys and 46 (35.4%) girls. Median age of newly diagnosed patients was 6 years and 4 months. Dominant clinical signs were: high temperature-72.9%, fatigue and paleness-74.8% and bone pain-87.9%. Most of the children had leucocitosis (51.5%), anemia (56.1%) and trombocitopenia (57.5%). Most frequent signs at the beginning of the illness are general symptoms like fatigue, unclear febrile state and accented bone pains. Those united signs with complete blood picture finding should be enough reason for suspicion under possible leukemia.

  16. [The clinical-radiologic-pathologic features of imported pulmonary histoplasmosis].

    PubMed

    Gong, Pihua; Cao, Zhaolong; Mu, Xinlin; Dong, Xiaosong; Wang, Keqiang; Feng, Rui'e; Sun, Kunkun; Wang, Hui; Gao, Zhancheng

    2015-01-01

    To describe the clinical features and treatment of imported pulmonary histoplasmosis and therefore to improve the recognition and differential diagnosis of this disease. The clinical data of 3 patients with imported pulmonary histoplasmosis in our hospital were collected and analyzed. Literatures published since 1989 were retrieved with 'pulmonary histoplasmosis' from PubMed, China National Knowledge Infrastructure (CNKI), Wanfang Data and VIP data, of which all the literatures about imported pulmonary histoplasmosis were reviewed. The clinical manifestations, diagnostic methods and treatment were summarized. All the 3 cases of imported pulmonary histoplasmosis were immunocompetent hosts, all were males, age were from 44-67 years, and had a history of exploring the cave or tunnel inhabited by bats in the epidemic areas. All of them developed influenza-like symptoms varying in severity after the onset of the disease. Pulmonary multiple nodules and mediastinal lymphadenopathy were found on chest images. One patient underwent percutaneous lung biopsy and the other two received video-assisted thoracoscopic lung biopsy. All the 3 patients showed consistent histopathological findings, such as granulomatous inflammation with necrosis. Pathogen culture with lung biopsy in the first case was identified as histoplasma. All the 3 cases were treated with itraconazole, and recovered with good prognosis. Thirteen literatures in English were obtained, which reported 60 cases with imported pulmonary histoplasmosis. Forty-two of them were males, 16 were females and 2 undefined. The range of their age was from 17-64 years. No imported pulmonary histoplasmosis was reported so far in Chinese literature. Common features of imported pulmonary histoplasmosis were consistent with our patients, including epidemiology, influenza-like symptoms and bilateral pulmonary nodules, recovery with or without antifungal therapy. The epidemiologic history, influenza-like symptoms and bilateral

  17. Biochemical and clinical features of hereditary hyperprolinemia.

    PubMed

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

    2014-08-01

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

  18. 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

  19. Clinical and Virological Features of Dengue in Vietnamese Infants

    PubMed Central

    Bich Chau, Tran Nguyen; Anders, Katherine L.; Lien, Le Bich; Hung, Nguyen Thanh; Minh Hieu, Lu Thi; Tuan, Nguyen Minh; Thuy, Tran Thi; Phuong, Le Thi; Hong Tham, Nguyen Thi; Lanh, Mai Ngoc; Farrar, Jeremy J.; Whitehead, Stephen S.; Simmons, Cameron P.

    2010-01-01

    Background Infants account for a small proportion of the overall dengue case burden in endemic countries but can be clinically more difficult to manage. The clinical and laboratory features in infants with dengue have not been extensively characterised. Methodology/Principal Findings This prospective, cross-sectional descriptive study of infants hospitalized with dengue was conducted in Vietnam from November 2004 to December 2007. More than two-thirds of 303 infants enrolled on clinical suspicion of dengue had a serologically confirmed dengue virus (DENV) infection. Almost all were primary dengue infections and 80% of the infants developed DHF/DSS. At the time of presentation and during hospitalization, the clinical signs and symptoms in infants with dengue were difficult to distinguish from those with other febrile illnesses, suggesting that in infants early laboratory confirmation could assist appropriate management. Detection of plasma NS1 antigen was found to be a sensitive marker of acute dengue in infants with primary infection, especially in the first few days of illness. Conclusions/Significance Collectively, these results provide a systematic description of the clinical features of dengue in infants and highlight the value of NS1 detection for diagnosis. PMID:20405057

  20. Confetti-like Sparing: A Diagnostic Clinical Feature of Melasma.

    PubMed

    Wu, Douglas C; Fitzpatrick, Richard E; Goldman, Mitchel P

    2016-02-01

    Diagnostic uncertainty when a patient presents with melasma-like Undings can lead to suboptimal treatment and inaccurate prognostic expectations. In this study, the authors present a unique clinical feature of melasma that they term the "Fitzpatrick macule" and test its Utility in establishing diagnostic certainty. The "Fitzpatrick macule" is a confetti-like macule of regularly pigmented skin located within a larger patch of melasma hyperpigmentation. To test its diagnostic Utility, the authors compared clinical photography of known cases of melasma with common mimickers, such as poikiloderma of Civatte and solar lentiginosis, and determined the positivity rate of the Fitzpatrick macule in each scenario. Their results show that 89.1 percent of clinical photographs of melasma were positive for the presence of Fitzpatrick macules compared to 1.1 percent that were negative. In contrast, 37.5 and 56.3 percent of clinical photographs of poikiloderma of Civatte were positive and negative for Fitzpatrick macules, respectively. Solar lentiginosis showed a 5.6 percent positivity and a 77.8 percent negativity for Fitzpatrick macules. The sensitivity and specificity of Fitzpatrick macules for melasma was 99 and 83 percent, respectively. In summary, the authors report a highly sensitive and specific clinical feature of melasma. In cases of diagnostic uncertainty, the presence of Fitzpatrick macules may aid in establishing a diagnosis of melasma.

  1. Clinical diagnosis of hyposalivation in hospitalized patients

    PubMed Central

    BERTI-COUTO, Soraya de Azambuja; COUTO-SOUZA, Paulo Henrique; JACOBS, Reinhilde; NACKAERTS, Olivia; RUBIRA-BULLEN, Izabel Regina Fischer; WESTPHALEN, Fernando Henrique; MOYSÉS, Samuel Jorge; IGNÁCIO, Sérgio Aparecido; da COSTA, Maitê Barroso; TOLAZZI, Ana Lúcia

    2012-01-01

    Objective The aim of this study was to evaluate the effectiveness of clinical criteria for the diagnosis of hyposalivation in hospitalized patients. Material and Methods A clinical study was carried out on 145 subjects (48 males; 97 females; aged 20 to 90 years). Each subject was clinically examined, in the morning and in the afternoon, along 1 day. A focused anamnesis allowed identifying symptoms of hyposalivation, like xerostomia complaints (considered as a reference symptom), chewing difficulty, dysphagia and increased frequency of liquid intake. Afterwards, dryness of the mucosa of the cheecks and floor of the mouth, as well as salivary secretion during parotid gland stimulation were assessed during oral examination. Results Results obtained with Chi-square tests showed that 71 patients (48.9%) presented xerostomia complaints, with a significant correlation with all hyposalivation symptoms (p<0.05). Furthermore, xerostomia was also significantly correlated with all data obtained during oral examination in both periods of evaluation (p<0.05). Conclusion Clinical diagnosis of hyposalivation in hospitalized patients is feasible and can provide an immediate and appropriate therapy avoiding further problems and improving their quality of life. PMID:22666830

  2. Computer-aided lesion diagnosis in B-mode ultrasound by border irregularity and multiple sonographic features

    NASA Astrophysics Data System (ADS)

    Lee, Jong-Ha; Seong, Yeong Kyeong; Chang, Chu-Ho; Ko, Eun Young; Cho, Baek Hwan; Ku, Jeonghun; Woo, Kyoung-Gu

    2013-02-01

    In this paper, we propose novel feature extraction techniques which can provide a high accuracy rate of mass classification in the computer-aided lesion diagnosis of breast tumor. Totally 290 features were extracted using the newly developed border irregularity feature extractor as well as multiple sonographic features based on the breast imaging-reporting and data system (BI-RADS) lexicons. To demonstrate the performance of the proposed features, 4,107 ultrasound images containing 2,508 malignant cases were used. The clinical results demonstrate that the proposed feature combination can be an integral part of ultrasound CAD systems to help accurately distinguish benign from malignant tumors.

  3. Ossified spinal meningiomas: Clinical and surgical features.

    PubMed

    Alafaci, Concetta; Grasso, Giovanni; Granata, Francesca; Salpietro, Francesco M; Tomasello, Francesco

    2016-03-01

    Meningiomas constitute 25% of primary spinal tumors and predominantly involve the thoracic spinal cord. Although calcifications are commonly seen in intracranial meningiomas, gross calcifications are observed in only 1-5% of all spinal meningiomas. We report the clinical findings, surgical strategy and histological features of 9 patients with ossified spinal meningiomas (OSMs). Clinical and surgical features of 9 patients with ossified spinal meningiomas were retrospectively reviewed. There were 8 women and 1 man with a mean age of 59 years. In 7 patients, the lesions were localized in the thoracic segment of the spine while in 2 patients in the lower cervical segment. All patients presented with weakness of the lower limbs and hypoesthesia below the site level of the lesion. Only 2 patients presented with urinary incontinence. Gross-total resection of the tumor was achieved in 6 patients while in 3 a subtotal removal of the meningioma was obtained. In all patients the postoperative course was uneventful. Six patients presented with a significant neurological improvement while in 3 patients a mild improvement was observed. Microscopically, all tumors showed typical histological pattern of ossified meningioma. OSMs are amenable to surgery if the complete removal can be achieved. Because of their hard-rock consistency complete resection can be challenging. In difficult cases, subtotal removal can be advised and follow-up imaging is mandatory. Overall, the risk of long-term recurrence of the lesions is low, and a good clinical outcome after total or subtotal removal can be expected. Copyright © 2016 Elsevier B.V. All rights reserved.

  4. Clinical features of congenital retinal folds.

    PubMed

    Nishina, Sachiko; Suzuki, Yumi; Yokoi, Tadashi; Kobayashi, Yuri; Noda, Eiichiro; Azuma, Noriyuki

    2012-01-01

    To investigate the clinical features and prognosis of congenital retinal folds without systemic associations. Retrospective observational case series. The characteristics, clinical course, ocular complications, and best-corrected visual acuity (BCVA) of eyes with congenital retinal folds were studied during the follow-up periods. The affected and fellow eyes were examined by slit-lamp biomicroscopy, binocular indirect ophthalmoscopy, and fundus fluorescein angiography. The parents and siblings of each patient also underwent ophthalmoscopic examinations. The BCVA was measured using a Landolt ring VA chart. One hundred forty-seven eyes of 121 patients with congenital retinal folds were examined. Fifty-five patients (45.5%) were female. The fold was unilateral in 95 patients (78.5%), and 69 of those patients (72.6%) had retinal abnormalities in the fellow eye. The meridional distribution of folds was temporal in 136 eyes (92.5%). The family history was positive in 32 patients (26.4%). Secondary fundus complications, including fibrovascular proliferation and tractional, rhegmatogenous, and exudative retinal detachments, developed in 44 eyes (29.9%). The BCVAs could be measured in 119 eyes and ranged from 20/100 to 20/20 in 5 eyes (4.2%), 2/100 to 20/200 in 45 eyes (37.8%), and 2/200 or worse in 69 eyes (58.0%). The follow-up periods ranged from 4 to 243 months (mean, 79.7 ± 58.9 months). These clinical features suggested that most congenital retinal folds may result from insufficient retinal vascular development, as in familial exudative vitreoretinopathy, rather than persistent fetal vasculature. Adequate management of active retinopathy and late-onset complications, especially retinal detachment, is required. Copyright © 2012 Elsevier Inc. All rights reserved.

  5. [Diagnosis and treatment of heparin-induced thrombocytopenia (HIT) based on its atypical immunological features].

    PubMed

    Miyata, Shigeki; Maeda, Takuma

    2016-03-01

    Heparin-induced thrombocytopenia (HIT) is a prothrombotic side effect of heparin therapy caused by HIT antibodies, i.e., anti-platelet factor 4 (PF4)/heparin IgG with platelet-activating properties. For serological diagnosis, antigen immunoassays are commonly used worldwide. However, such assays do not indicate their platelet-activating properties, leading to low specificity for the HIT diagnosis. Therefore, over-diagnosis is currently the most serious problem associated with HIT. The detection of platelet-activating antibodies using a washed platelet activation assay is crucial for appropriate HIT diagnosis. Recent advances in our understanding of the pathogenesis of HIT include it having several clinical features atypical for an immune-mediated disease. Heparin-naïve patients can develop IgG antibodies as early as day 4, as in a secondary immune response. Evidence for an anamnestic response on heparin re-exposure is lacking. In addition, HIT antibodies are relatively short-lived, unlike those in a secondary immune response. These lines of evidence suggest that the mechanisms underlying HIT antibody formation may be compatible with a non-T cell-dependent immune reaction. These atypical clinical and serological features should be carefully considered while endeavoring to accurately diagnose HIT, which leads to appropriate therapies such as immediate administration of an alternative anticoagulant to prevent thromboembolic events and re-administration of heparin during surgery involving cardiopulmonary bypass when HIT antibodies are no longer detectable.

  6. Clinical Features and Outcome of Mucormycosis

    PubMed Central

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

    2014-01-01

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

  7. Partial biotinidase deficiency: clinical and biochemical features.

    PubMed

    McVoy, J R; Levy, H L; Lawler, M; Schmidt, M A; Ebers, D D; Hart, P S; Pettit, D D; Blitzer, M G; Wolf, B

    1990-01-01

    Neonatal screening for profound biotinidase deficiency (less than 10% of the mean normal activity level) has identified a group of children with partial biotinidase deficiency (10% to 30% of mean normal activity). Because partial biotinidase deficiency may result in clinical consequences that may be prevented by treatment with biotin, we evaluated such individuals and their family members (1) to determine whether partial biotinidase deficiency is associated with symptoms and (2) to determine the inheritance pattern. We quantified serum biotinidase activity levels and obtained medical histories of probands, their parents and siblings, and additional family members. All children with partial deficiency were healthy at the time of diagnosis. One child, who was not initially treated with biotin, later developed hypotonia, hair loss, and skin rash, which resolved with biotin therapy. Four adults and three children with partial biotinidase deficiency were identified among family members of infants identified by neonatal screening. All these individuals were healthy, although one sibling had elevated urinary lactate excretion. A fifth adult with partial deficiency, found among clinically normal adult volunteers, later showed minor symptoms that resolved after biotin therapy. Like children with profound biotinidase deficiency, children with partial biotinidase deficiency are symptoms free at birth. However, the subsequent occurrence of symptoms of profound biotinidase deficiency in some persons with partial deficiency suggests that biotin therapy for this condition may be warranted.

  8. Punctate follicular porokeratosis: clinical and pathologic features.

    PubMed

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

    2015-11-01

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

  9. Clinical and Immunological Features of Common Variable Immunodeficiency in China

    PubMed Central

    Lin, Lian-Jun; Wang, Yu-Chuan; Liu, Xin-Min

    2015-01-01

    Background: Common variable immunodeficiency (CVID) is one of the most common symptomatic primary immunodeficiency syndromes. The purpose of this article was to broaden our knowledge about CVID for better diagnosis and treatment. Methods: Clinical and immunological features of 40 Chinese patients with CVID were analyzed retrospectively. Results: The median age at onset was 11-year-old (range 4–51 years). The median age at diagnosis was 14.5-year-old (range 5–66 years). The average time of delay in diagnosis was 5.3 years (range 1–41 years). The most common main complaint was fever due to infections (35 cases, 87.5%). Pneumonia (28 cases, 70%) was the most common type of infections. Bronchiectasis was present in 6 patients (15%). Autoimmune disease was detected in 6 cases of CVID, and malignancy in 2 cases. The median total serum levels of IgG, IgA, and IgM at diagnosis were 1.07 g/L, 0.07 g/L, and 0.28 g/L, respectively. The percentages of CD3−/CD10+ B-cells were 1%–3.14%. Conclusions: Infection is the most frequent presentation of CVID. Patients with unexplainable infections should receive further examination including serum immunoglobulin (Ig) and lymphocyte subset analysis. Regular and sufficient substitution with Ig is recommended. PMID:25635425

  10. Electroencephalographic and clinical features of cerebral malaria

    PubMed Central

    Crawley, J; Smith, S; Muthinji, P; Marsh, K; Kirkham, F

    2001-01-01

    BACKGROUND—Seizures are a prominent feature of childhood cerebral malaria, and are associated with an increased risk of death and neurological sequelae. We present the electroencephalographic (EEG) findings from a detailed clinical and electrophysiological study.
METHODS—Children with cerebral malaria had EEGs recorded within six hours of admission, and at 12 hourly intervals until recovery of consciousness. Ten deeply comatose children underwent intracranial pressure monitoring. Children were not mechanically ventilated, which made it possible to directly correlate the clinical and EEG findings.
RESULTS—Of 65 children aged 9 months and above, 40 had one or more seizures, and 18 had an episode of status epilepticus. Most seizures were partial motor, and spike wave activity consistently arose from the posterior temporo-parietal region, a border zone area lying between territories supplied by the carotid and vertebrobasilar circulations. Fifteen children had seizures that were clinically subtle or electrographic. Clinical seizures were associated with an abrupt rise in intracranial pressure. Fifty children recovered fully, seven died, and eight had persistent neurological sequelae. Initial EEG recordings of very slow frequency, or with background asymmetry, burst suppression, or interictal discharges, were associated with an adverse outcome.
CONCLUSIONS—Serial EEG recording has uncovered a range of clinical, subtle, and electrographic seizures complicating childhood cerebral malaria, and has emphasised their importance in the pathogenesis of coma. Further work is required to determine the most appropriate regimen for the prophylaxis and treatment of seizures in cerebral malaria, in order to improve outcome.

 PMID:11207176

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

    PubMed Central

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

    2015-01-01

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

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

    PubMed

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

    2016-04-01

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

  13. Clinical and pathological features of pachyonychia congenita.

    PubMed

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

    2005-10-01

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

  14. Fine-needle aspiration diagnosis of lymphomas with signet ring cell features: potential pitfalls and solutions.

    PubMed

    Wang, Jeff; Katz, Ruth L; Stewart, John; Landon, Gene; Guo, Ming; Gong, Yun

    2013-09-01

    Lymphoma with signet ring cell features (LSF) is a rare morphologic variant of non-Hodgkin lymphoma. Although it has been well documented in the surgical pathology literature, to the best of the authors's knowledge, the features of LSF in fine-needle aspiration (FNA) samples have rarely been reported. An accurate cytologic diagnosis of LSF is of important therapeutic significance. The authors retrospectively reviewed 7 FNA cases of LSF for cytologic features, ancillary studies, corresponding histologic findings, and the patients' clinical and radiologic information to illustrate the diagnostic clues and potential pitfalls. The final diagnoses, based on a multidisciplinary approach, were follicular lymphoma (5 patients), large B-cell lymphoma of follicular center cell origin (1 patient), and low-grade B-cell lymphoma with plasmacytoid features (1 patient). FNAs were obtained from both lymph node and extranodal sites. Common cytologic features included various percentages of signet ring cells in a background of nonvacuolated lymphomatous cells, lymphoglandular bodies, and cytoplasmic rings. The majority of signet ring cells contained a single, large, clear intracytoplasmic vacuole that pushed the nucleus laterally whereas fewer cells contained ≥ 2 vacuoles that indented the nucleus into a scalloped or stellate configuration. These cells resemble, to some degree, other lesions with signet ring cell features. One of the diagnostic clues of LSF was the similarity in nuclear details between signet ring cells and surrounding nonvacuolated lymphoid cells. Familiarity with cytologic features, correlation with clinical/radiologic information, and ancillary studies are important for an accurate diagnosis of LSF and for distinguishing it from other lesions with signet ring cell features in FNA samples. Copyright © 2013 American Cancer Society.

  15. Cytohistological Features of Spindle Cell Lipoma- A Case Report with Differential Diagnosis

    PubMed Central

    Khatib, Yasmeen; Shah, Vinaya B; Khare, Manisha S

    2017-01-01

    Spindle Cell Lipoma (SCL) is an uncommon benign tumour of adipose tissue that is usually superficially located in the neck, back and shoulder region. Although it has characteristic histological features it can pose a diagnostic dilemma on cytology. It presents with a mixture of spindle cells, adipocytes, collagen fibres and a myxoid matrix in varying proportions sometimes with mild pleomorphism. Hence, it can be mistaken for other spindle cell, adipose and myxoid tumours which can be benign or malignant. We present a case of SCL of the back in a 47-year-old male, who presented with a slow growing lesion. Fine Needle Aspiration Cytology (FNAC) showed the characteristic cytological features described above and a diagnosis could be given after clinical correlation. We report this case as the cytology of this uncommon tumour has been described in relatively few cases and a correct pre-operative diagnosis will aid in proper management of this tumour. PMID:28384874

  16. [Venous malformations: clinical characteristics and differential diagnosis].

    PubMed

    Casanova, D; Boon, L-M; Vikkula, M

    2006-01-01

    Venous malformations (VM) are localized defects of blood vessels that are due to vascular dysmorphogenesis. These slow-flow lesions can affect any tissue or organ. Clinically, a cutaneous VM is characterized by a bluish mass that is compressible on palpation. Phleboliths are commonly present. Symptoms depend on location and size. VM are often sporadic and isolated, however, they can be associated with other malformations and be part of a syndrome; Klippel-Trenaunay (capillary-lymphatico-venous malformation with limb hypertrophy) is the most common. Glomuvenous malformation (GVM) is another type of venous anomaly. In contrast to VM, GVM is often painful on palpation and not compressible. Clinical diagnosis of VM is often made in the presence of a bluish cutaneous lesion: however, other lesions can mimick VM. The most frequent anomalies are a blue naevus, a hemorrhagic lymphatic malformation, a sub-cutaneous hemangioma or even the presence of dilated superficial normal veins due to underlying venous stenoses. This chapter will detail the clinical characteristics of venous anomalies and their differential diagnosis.

  17. [Clinical variability and diagnosis steps in childhood mitochondrial disease].

    PubMed

    Mercier, S; Josselin de Wasch, M; Labarthe, F; Jardel, C; Lombès, A; Munnich, A; Toutain, A; Nivet, H; Saliba, E; Chantepie, A; Castelnau, P

    2009-04-01

    Mitochondrial respiratory chain deficiencies are known for their high clinical variability. Difficult to diagnose, the prevalence of these diseases is probably underestimated. We report 18 children diagnosed with respiratory chain deficiency at the Tours University Hospital over the past 10 years. Three clinical profiles can be distinguished depending on the age at onset of the first symptoms: the neonatal period (4 cases), between 1 month and 2 years of age (10 cases), and after 10 years (4 cases). However, no clinical feature appears specific of any age group. In contrast, respiratory chain analysis on liver biopsy was very informative for all our patients at any age and with any clinical presentation, even with predominant neurological symptoms. These biochemical analyses support the diagnosis of mitochondrial disorders in view of molecular analysis, which nevertheless frequently remains inconclusive. These investigations should benefit from the new molecular screening technologies based on DNA chips that can identify the genomic mutations responsible for these severe and relatively frequent diseases.

  18. [Genetic and clinical diagnosis of Angelman syndrome. Case Reviews].

    PubMed

    García Ramírez, M; Csanyi, B; Martínez Antón, J; Delgado Marqués, M; Bauzano Poley, E

    2008-09-01

    Angelman syndrome is characterised by mental retardation, epilepsy, speech impairment, facial dysmorphism and a characteristic behavioural phenotype. Diagnostic clinical criteria have been defined by consensus since 1995. It is caused by deficiency or inactivation of the UB3A gene. There is a percentage of cases which satisfy these clinical features but have negative genetic testing. We consider it necessary to analyse the patient characteristics and possible phenotype-genotype correlations. All cases which were treated between 1981 and 2007 in a neurology unit and fulfilled the clinical criteria were included. Genetic diagnosis was made by methylation testing and fluorescent in situ hybridization. Thirteen patients were studied, nine with positive genetic testing and four with negative testing who completed the clinical criteria. The average age at diagnosis was 37 months. Eleven cases showed acquired microcephaly. Flat occiput, mouth and maxillary malformations, hypopigmentation, a happy appearance and hyperactivity were practically constant characteristics. Speech and walking ability were the areas which showed most deficit. Twelve cases had epilepsy. Three of the cases with normal genetic testing showed less microcephaly and better psychomotor development, particularly in walking ability. The phenotypical characteristics of the syndrome should be known before requesting specific genetic testing and to make a diagnosis even in cases with negative genetic. The phenotype characteristics that describe Angelman syndrome were verified. Deletion cases had a worse outcome.

  19. Probabilistic and fuzzy logic in clinical diagnosis.

    PubMed

    Licata, G

    2007-06-01

    In this study I have compared classic and fuzzy logic and their usefulness in clinical diagnosis. The theory of probability is often considered a device to protect the classical two-valued logic from the evidence of its inadequacy to understand and show the complexity of world [1]. This can be true, but it is not possible to discard the theory of probability. I will argue that the problems and the application fields of the theory of probability are very different from those of fuzzy logic. After the introduction on the theoretical bases of fuzzy approach to logic, I have reported some diagnostic argumentations employing fuzzy logic. The state of normality and the state of disease often fight their battle on scalar quantities of biological values and it is not hard to establish a correspondence between the biological values and the percent values of fuzzy logic. Accordingly, I have suggested some applications of fuzzy logic in clinical diagnosis and in particular I have utilised a fuzzy curve to recognise subjects with diabetes mellitus, renal failure and liver disease. The comparison between classic and fuzzy logic findings seems to indicate that fuzzy logic is more adequate to study the development of biological events. In fact, fuzzy logic is useful when we have a lot of pieces of information and when we dispose to scalar quantities. In conclusion, increasingly the development of technology offers new instruments to measure pathological parameters through scalar quantities, thus it is reasonable to think that in the future fuzzy logic will be employed more in clinical diagnosis.

  20. Clinical Features and Treatment of Ocular Toxoplasmosis

    PubMed Central

    Park, Young-Hoon

    2013-01-01

    Ocular toxoplasmosis is a disease caused by the infection with Toxoplasma gondii through congenital or acquired routes. Once the parasite reaches the retina, it proliferates within host cells followed by rupture of the host cells and invasion into neighboring cells to make primary lesions. Sometimes the restricted parasite by the host immunity in the first scar is activated to infect another lesion nearby the scar. Blurred vision is the main complaint of ocular toxoplasmic patients and can be diagnosed by detection of antibodies or parasite DNA. Ocular toxoplasmosis needs therapy with several combinations of drugs to eliminate the parasite and accompanying inflammation; if not treated it sometimes leads to loss of vision. We describe here clinical features and currently available chemotherapy of ocular toxoplasmosis. PMID:24039281

  1. [Methods of rapid diagnosis in clinical microbiology: Clinical needs].

    PubMed

    Vila, Jordi; Gómez, María Dolores; Salavert, Miguel; Bosch, Jordi

    2017-01-01

    The diagnostic methods of infectious diseases should be fast, accurate, simple and affordable. The speed of diagnosis can play a crucial role in healing the patient, allowing the administration of appropriate antibiotic treatment. One aspect that increasingly determines the need for rapid diagnostic techniques is the increased rates of serious infections caused by multidrug resistant bacteria, which cause a high probability of error in the empirical treatment. Some of the conventional methods such as Gram staining or antigen detection can generate results in less than 1 hour but lack sensitivity. Today we are witnessing a major change in clinical microbiology laboratories with the technological advances such as molecular diagnostics, digital microbiology and mass spectrometry. There are several studies showing that these changes in the microbiological diagnosis reduce the generation time of the test results, which has an obvious clinical impact. However, if we look into the future, other new technologies which will cover the needs required for a rapid microbiological diagnosis are on the horizon. This review provides an in depth analysis of the clinical impact that the implementation of rapid diagnostic techniques will have on unmet clinical needs.

  2. [Clinic, diagnosis and treatment of tracheal stenosis].

    PubMed

    Delgado Pecellín, I; González Valencia, J P; Machuca Contreras, M; Pineda Mantecón, M

    2009-05-01

    New surgical techniques have been developed for treatment of tracheal stenosis (TS) over the last few years. The aim of the present study is to examine the clinical, therapeutic characteristics and progress of the cases of TS diagnosed in our hospital from January 2004 to August 2007. We have reviewed the clinical history, focusing on age at diagnosis, clinical signs and symptoms, baseline pathology, previous history of mechanical ventilation, degree of stenosis, diagnostic technique, treatment and progress. A total of 16 cases were found, (2 congenital and 14 acquired). Mean age at diagnosis was 8.8 months (23 days-2.5 years). Of these, 14 patients had been intubated (3-44 days). Clinical suspicion was prompted by inspiratory stridor (44%), difficulty to be extubated or intubated (28%) and recurrent laryngotracheitis (39%). Three patients received CO(2) laser therapy and suffered a high number of restenosis and required re-interventions. Three patients underwent costal cartilage tracheoplasty and tracheal-cricoid split, showing a good prognosis and one patient underwent a slide tracheoplasty. Five patients with only a few clinical signs and mild stenosis, were managed on a wait and see basis. One patient with tracheal membrane underwent resection of the stenosed portion and end-to-end anastomosis with favourable progress. Another patient had a partial cricotracheal resection but suffered three restenoses. Two patients underwent surgical correction of the vascular ring. Asymptomatic patients may receive conservative therapy. In the case of short-segment stenosis, resection and end-to-end anastomosis is the therapy of choice and the long-segment stenosis has obtained good results by means of slide tracheoplasty, which involved no deaths and a very low morbidity.

  3. Unilateral cerebellar hypoplasia with different clinical features.

    PubMed

    Benbir, Gulcin; Kara, Simay; Yalcinkaya, Beyza Citci; Karhkaya, Geysu; Tuysuz, Beyhan; Kocer, Naci; Yalcinkaya, Cengiz

    2011-03-01

    Unilateral cerebellar hypoplasia (UCH) is a rare pathological condition characterized by the loss of volume in cerebellar hemispheres ranging from mild asymptomatic to severe symptomatic cases. As the designation of UCH remains problematic, the underlying etiopathogenesis also lacks explanation. We investigated the patients admitted to Departments of Child Neurology, Neurology, and Genetics between the years 1992 and 2010 and detected 12 patients with unilateral cerebellar volume loss, with the exclusion of all other cerebellar pathologies. The ages of patients ranged between 6 months to 55 years. Five patients had a delay in developmental milestones, and one of these was diagnosed with neurofibromatosis type 1. Two patients had epileptic seizures, one patient had peripheral facial paralysis as a component of Moebius syndrome, and four patients were incidentally diagnosed during etiological work-up for headache. The clinical outcomes of patients varied from healthy subjects to marked developmental impairment. Radiologically, five patients had severe disproportionate UCH, six had moderate disproportionate, and one had mild proportionate UCH. Cerebellar peduncles were affected in all, and vermis was partly hypoplastic in eight patients. Brainstem was involved in four patients, and seven patients showed involvement of white matter and/or corpus callosum. Imaging features supported that patients with severe disproportionate UCH also displayed additional cerebral and commissural changes, which were related to ischemic or vascular injuries, implying a prenatally acquired disruption. In the presence of such a wide spectrum of clinical and radiological features, a prenatally acquired lesion and, thus, a disruption seem to be more explanatory rather than a primary developmental process or malformation in the etiopathogenesis of unilateral cerebellar hypoplasia.

  4. Costeff syndrome: clinical features and natural history.

    PubMed

    Yahalom, Gilad; Anikster, Yair; Huna-Baron, Ruth; Hoffmann, Chen; Blumkin, Lubov; Lev, Dorit; Tsabari, Rakefet; Nitsan, Zeev; Lerman, Sheera F; Ben-Zeev, Bruria; Pode-Shakked, Ben; Sofer, Shira; Schweiger, Avraham; Lerman-Sagie, Tally; Hassin-Baer, Sharon

    2014-12-01

    Costeff syndrome (CS) is a rare autosomal-recessive neurological disorder, which is known almost exclusively in patients of Iraqi Jewish descent, manifesting in childhood with optic atrophy, ataxia, chorea and spastic paraparesis. Our aim was to study the clinical spectrum of CS and natural history using a cross-sectional study design. Consecutive patients with CS were recruited to the study. Patients were diagnosed based on clinical features, along with elevated urinary levels of methylglutaconic and methylglutaric acid, and by identification of the disease-causing mutation in the OPA3 gene in most. All patients were examined by a neurologist and signs and symptoms were rated. 28 patients with CS (16 males, 21 families, age at last observation 28.6 ± 16.1 years, range 0.5-68 years) were included. First signs of neurological deficit appeared in infancy or early childhood, with delayed motor milestones, choreiform movements, ataxia and visual disturbances. Ataxia and chorea were the dominant motor features in childhood, but varied in severity among patients and did not seem to worsen with age. Pyramidal dysfunction appeared later and progressed with age (r = 0.71, p < 0.001) leading to spastic paraparesis and marked gait impairment. The course of neurological deterioration was slow and the majority of patients could still walk beyond the fifth decade. While visual acuity seemed to deteriorate, it did not correlate with age. CS is a rare neurogenetic disorder that causes serious disability and worsens with age. Spasticity significantly increases over the years and is the most crucial determinant of neurological dysfunction.

  5. [Clinical features of strabismus in psychomotor retardation].

    PubMed

    Arias-Cabello, Belina; Arroyo-Yllanes, María Estela; Pérez-Pérez, José Fernando; Fonte-Vázquez, Anselmo

    2016-01-01

    In psychomotor retardation there is an abnormal development of mental, sensory and motor skills associated with ocular manifestations. There are biological and psychosocial risk factors that predispose an individual to neurological damage. From 50% to 80% of patients with strabismus retardation have special features that differentiate it from the rest of strabismus in healthy patients. To determine the most common type of strabismus in patients with psychomotor retardation and their clinical features. Patients with psychomotor retardation and strabismus were included. An ophthalmological examination was performed, as well as an evaluation of the characteristics of strabismus, including perinatal and post-natal history. Esotropia was the most frequent squint with 65.3%, followed by exotropia with 32.7%. The variability in the squint magnitude was 60% in both types, and 6 patients had dissociated vertical deviation. Most of the patients started to present strabismus since they were born. The most frequent perinatal risk factors were threatened miscarriage, pre-eclampsia, foetal distress, and hypoxia. Esotropia is the most common type of strabismus in psychomotor retardation. The variability of squint magnitude is a characteristic in these patients. The moderate variability is the most frequent in both esotropia and exotropia. The most common refractive error is hyperopic astigmatism in esotropia and the myopic kind in exotropia. Copyright © 2015 Academia Mexicana de Cirugía A.C. Published by Masson Doyma México S.A. All rights reserved.

  6. Discretization of continuous features in clinical datasets

    PubMed Central

    Maslove, David M; Podchiyska, Tanya; Lowe, Henry J

    2013-01-01

    Background The increasing availability of clinical data from electronic medical records (EMRs) has created opportunities for secondary uses of health information. When used in machine learning classification, many data features must first be transformed by discretization. Objective To evaluate six discretization strategies, both supervised and unsupervised, using EMR data. Materials and methods We classified laboratory data (arterial blood gas (ABG) measurements) and physiologic data (cardiac output (CO) measurements) derived from adult patients in the intensive care unit using decision trees and naïve Bayes classifiers. Continuous features were partitioned using two supervised, and four unsupervised discretization strategies. The resulting classification accuracy was compared with that obtained with the original, continuous data. Results Supervised methods were more accurate and consistent than unsupervised, but tended to produce larger decision trees. Among the unsupervised methods, equal frequency and k-means performed well overall, while equal width was significantly less accurate. Discussion This is, we believe, the first dedicated evaluation of discretization strategies using EMR data. It is unlikely that any one discretization method applies universally to EMR data. Performance was influenced by the choice of class labels and, in the case of unsupervised methods, the number of intervals. In selecting the number of intervals there is generally a trade-off between greater accuracy and greater consistency. Conclusions In general, supervised methods yield higher accuracy, but are constrained to a single specific application. Unsupervised methods do not require class labels and can produce discretized data that can be used for multiple purposes. PMID:23059731

  7. Clinical features and molecular bases of neuroacanthocytosis.

    PubMed

    Rampoldi, Luca; Danek, Adrian; Monaco, Anthony P

    2002-08-01

    The term acanthocytosis is derived from the Greek for "thorn" and is used to describe a peculiar spiky appearance of erythrocytes. Acanthocytosis is found to be associated with at least three hereditary neurological disorders that are generally referred to as neuroacanthocytosis. Abetalipoproteinaemia is an autosomal recessive condition, characterised by absence of serum apolipoprotein B containing lipoproteins leading to fat intolerance and fat-soluble vitamin deficiency. This results in a progressive spinocerebellar ataxia with peripheral neuropathy and retinitis pigmentosa. Chorea-acanthocytosis is also an autosomal recessive condition and is characterised by chorea, orofaciolingual dyskinesia, dysphagia, dysarthria, areflexia, seizures and dementia. Some of its features, including choreic movements, peripheral neuropathy with areflexia, elevated serum creatine kinase levels and myopathy are shared by another form of neuroacanthocytosis, McLeod syndrome. Patients affected by this X-linked disorder also show abnormal expression of Kell blood group antigens and a permanent haemolytic state. In addition to these cases, acanthocytosis is occasionally associated with other neurological disorders, such as Hallervorden-Spatz disease. For each of the neuroacanthocytosis syndromes we review the main clinical features and their molecular bases. The recent molecular genetics findings are the first step towards the understanding of the pathogenetic mechanisms and eventually the search for effective treatments.

  8. Clinical and Laboratory Features Distinguishing Juvenile Polymyositis and Muscular Dystrophy

    PubMed Central

    MAMYROVA, GULNARA; KATZ, JAMES D.; JONES, ROBERT V.; TARGOFF, IRA N.; LACHENBRUCH, PETER A.; JONES, OLCAY Y.; MILLER, FREDERICK W.; RIDER, LISA G.

    2016-01-01

    Objective To differentiate juvenile polymyositis (PM) and muscular dystrophy, both of which may present with chronic muscle weakness and inflammation. Methods We studied 39 patients with probable or definite juvenile PM and 9 patients with muscular dystrophies who were initially misdiagnosed as having juvenile PM. Differences in demographic, clinical, and laboratory results; outcomes; and treatment responses were evaluated by Fisher’s exact and rank sum tests. Random forests classification analysis and logistic regression were performed to examine significant differences in multivariable models. Results Clinical features and serum muscle enzyme levels were similar between juvenile PM and dystrophy patients, except 89% of dystrophy patients had muscle atrophy compared with 46% of juvenile PM patients. Dystrophy patients had a longer delay to diagnosis (median 12 versus 4 months) and were less frequently hospitalized than juvenile PM patients (22% versus 74%). No dystrophy patients, but 54% of juvenile PM patients, had a myositis autoantibody. Dystrophy patients more frequently had myopathic features on muscle biopsy, including diffuse variation of myofiber size, fiber hypertrophy, and myofiber fibrosis (44–100% versus 8–53%). Juvenile PM patients more frequently had complex repetitive discharges on electromyography and a complete response to treatment with prednisone or other immunosuppressive agents than dystrophy patients (44% versus 0%). Random forests analysis revealed that the most important features in distinguishing juvenile PM from dystrophies were myositis autoantibodies, clinical muscle atrophy, and myofiber size variation on biopsy. Logistic regression confirmed muscle atrophy, myofiber fibrosis, and hospitalization as significant predictors. Conclusion Muscular dystrophy can present similarly to juvenile PM. Selected clinical and laboratory features are helpful in combination in distinguishing these conditions. PMID:23925923

  9. Sclerosing Cholangitis: Clinicopathologic Features, Imaging Spectrum, and Systemic Approach to Differential Diagnosis

    PubMed Central

    Seo, Nieun; Lee, Seung Soo; Byun, Jae Ho; Kim, Jin Hee; Kim, Hyoung Jung; Lee, Moon-Gyu

    2016-01-01

    Sclerosing cholangitis is a spectrum of chronic progressive cholestatic liver disease characterized by inflammation, fibrosis, and stricture of the bile ducts, which can be classified as primary and secondary sclerosing cholangitis. Primary sclerosing cholangitis is a chronic progressive liver disease of unknown cause. On the other hand, secondary sclerosing cholangitis has identifiable causes that include immunoglobulin G4-related sclerosing disease, recurrent pyogenic cholangitis, ischemic cholangitis, acquired immunodeficiency syndrome-related cholangitis, and eosinophilic cholangitis. In this review, we suggest a systemic approach to the differential diagnosis of sclerosing cholangitis based on the clinical and laboratory findings, as well as the typical imaging features on computed tomography and magnetic resonance (MR) imaging with MR cholangiography. Familiarity with various etiologies of sclerosing cholangitis and awareness of their typical clinical and imaging findings are essential for an accurate diagnosis and appropriate management. PMID:26798213

  10. Porphyria cutanea tarda: clinical and laboratory features.

    PubMed Central

    Sweeney, G. D.; Jones, K. G.

    1979-01-01

    Eleven patients with porphyria cutanea tarda were studied. Biochemical confirmation of the clinical diagnosis required only determination of the total urine porphyrin concentration in a sample of urine voided on rising in the morning. The patients were divided for convenience of discussion into four groups differing in age, sex and etiologic factors. Of the six patients in whom a liver biopsy was done one was shown to have micronodular cirrhosis. Except for a modest elevation in the serum glutamic oxaloacetic transaminase values when the patients were first seen, no evidence was found for liver disease apart from the presence of porphyria cutanea tarda. One patient recovered solely by abstaining from alcohol consumption. Five patients underwent phlebotomy; their iron stores had been found to be between 2 and 3 g. Decreasing urine porphyrin values correlated well with decreasing serum ferritin values during the course of phlebotomy. Porphyria cutanea tarda, which is due to a deficiency of uroporphyrinogen decarboxylase, is manifested in association with alcohol abuse, estrogen therapy, exposure to chlorinated hydrocarbons or increased tissue iron stores, or a combination of these factors. Although relatively uncommon, this condition raises important and unresolved issues regarding the hepatotoxicity of alcohol, estrogens, chlorinated hydrocarbons and iron. PMID:427687

  11. Primary breast sarcoma: prevalence, clinical signs, and radiological features.

    PubMed

    Surov, Alexey; Holzhausen, Hans-Jürgen; Ruschke, Kathrin; Spielmann, Rolf Peter

    2011-07-01

    Primary breast sarcoma is very rare. Most reports regarding sarcoma of the breast are clinical observations or pathological series and provide either no or inconstant radiological information. Radiological publications consist predominantly of isolated case reports or small series. To determine the prevalence, clinical signs, and radiological features of primary breast sarcoma. This is a retrospective review of 21 patients with breast sarcoma. All patients were female and their median age was 66 years (range 27-86). In all patients the diagnosis was confirmed histopathologically. The prevalence of breast sarcoma was 0.1% of all identified cases with breast malignancies. Clinically, all patients presented with solitary painless breast lumps. There was no uni- or bilateral axillary lymphadenopathy. On mammography (n = 19), two mammographic patterns could be identified: breast masses (68%), and architectural distortion (32%). On ultrasound (n = 8), most lesions were homogeneously hypoechoic, lobular or oval in shape with microlobulated or indistinct margins. On magnetic resonance imaging (n = 3), marked inhomogeneous contrast enhancement was seen in all investigated cases. The imaging findings of primary breast sarcoma are not pathognomonic. However, they should be taken into consideration in the differential diagnosis of breast lesions.

  12. Prevalence, clinical, endoscopic and pathological features of duodenitis in children

    PubMed Central

    Alper, Arik; Hardee, Steven; Rojas-velasquez, Danilo; Escalera, Sandra; Morotti, Raffaella A; Pashankar, Dinesh S.

    2015-01-01

    Objectives While gastritis and esophagitis are well studied in children, there is very limited literature on duodenitis in children. We aimed to assess the prevalence, etiology, clinical, endoscopic, and pathological features in a large cohort of unselected children with duodenitis. Methods We reviewed the pathology reports of all upper endoscopies performed at our institution over 5 years to identify children with duodenitis. Biopsy sections were reviewed to confirm the diagnosis of duodenitis. Demographic, clinical, endoscopic data and presence of associated gastritis and esophagitis were noted in all children with duodenitis. Etiology of duodenitis was correlated with the patient's clinical diagnosis. Results Out of 2772 children who had endoscopy, 352 had duodenitis with the prevalence rate of 12.7%. Gastritis was seen in 64% of children with duodenitis compared with 46% of children without duodenitis (P < 0.001). Common indications for endoscopy in children with duodenitis were abdominal pain, positive celiac serology and diarrhea. The most common etiology was celiac disease (32%), followed by Crohn's disease (13%), ulcerative colitis (3%), and Helicobacter pylori infection (6%). In 63% of cases, endoscopic appearance of duodenum was normal. Cryptitis, villous changes and cellular infiltration were noted on histology. Conclusions Prevalence of duodenitis is 12.7% in children undergoing endoscopy. Celiac disease and inflammatory bowel disease are common causes of duodenitis. Associated gastritis is common in children with duodenitis and correlation of endoscopic appearance with histology is poor. PMID:26252915

  13. [Cardiac sarcoidosis - clinical manifestation and diagnosis].

    PubMed

    Błaut-Jurkowska, Justyna; Podolec, Piotr; Olszowska, Maria

    2016-08-01

    Sarcoidosis is a multisystem inflammatory disease defined histologically by the formation of noncaseating granulomas. The etiology of sarcoidosis remains unknown. Heart involvement in the course of sarcoidosis concerns about 5% of patients. The most common manifestation of cardiac sarcoidosis are conduction abnormalities, arrhythmias and heart failure. The diagnostic algorithm includes performing a clinical history, a 12-lead electrocardiogram (ECG) and an echocardiogram. If any of the initial screening investigations yields an abnormality, diagnostics should be continue using advanced imaging techniques: cardiovascular magnetic resonance (CMR) or fluorodeoxyglucose positron emission tomography (FDG-PET). Nowadays endomyocardial biopsy is not performed routinely.The clinical picture of cardiac sarcoidosis is highly variable. Screening for cardiac sarcoidosis should be performed in all patients diagnosed with extracardiac sarcoidosis. Cardiac sarcoidosis should also be suspected in young patients without a diagnosis of sarcoidosis who present with conduction abnormalities of unknown etiology, because cardiac sarcoidosis may be the first or the only manifestation of the disease. © 2016 MEDPRESS.

  14. Clinical Features and Course of Ocular Toxocariasis in Adults

    PubMed Central

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

    2014-01-01

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

  15. Ethnicity and clinical psychiatric diagnosis in childhood.

    PubMed

    Minsky, Shula; Petti, Theodore; Gara, Michael; Vega, William; Lu, Weili; Kiely, Gerard

    2006-09-01

    This paper focuses on whether a consistent difference by ethnicity existed in the clinical diagnosis of children and adolescents in two behavioral health service environments and reviews plausible explanations for such a difference. Key measures were clinical diagnosis and ethnicity, abstracted from the administrative dataset of a New Jersey behavioral health care organization during 2000-2002, and a data collection conducted for the State of Indiana during 1991-1992. Sample sizes were 5,394 and 10,437, respectively. Only primary diagnoses were used in this study, classified into externalizing versus internalizing disorders. Logistic regression was performed for the dependent variable of presence/absence of an externalizing disorder or internalizing disorder. A main effect for ethnicity was found; African American youth received more externalizing diagnoses than did European American youth (odds ratio 2.01 (CI: 1.73-2.33) in one sample and 1.67 (CI: 1.44-1.94) in the other); African American youth also received fewer internalizing diagnoses than European American youth (odds ratio 0.55 (CI: .48-.63) in one sample and 0.75 (CI:.64-.88) in the other. Potential explanations for these findings include: 1. Biopsychosocial origin; 2. Clinician bias; 3. Discordant normative behavioral expectations between parents and service providers; and 4. Interaction between differential expression of underlying pathology and tolerance for such expressions.

  16. Gingival overgrowth: Part 1: aetiology and clinical diagnosis.

    PubMed

    Beaumont, J; Chesterman, J; Kellett, M; Durey, K

    2017-01-27

    Most commonly, gingival overgrowth is a plaque-induced inflammatory process, which can be modified by systemic disease or medications. However, rare genetic conditions can result in gingival overgrowth with non-plaque-induced aetiology. It is also important to appreciate the potential differential diagnoses of other presentations of enlarged gingival tissues; some may be secondary to localised trauma or non-plaque-induced inflammation and, albeit rarely, others may be manifestations of more sinister diseases or lesions. A definitive diagnosis will then enable an appropriate management strategy. This paper aims to discuss clinical features and diagnoses for conditions presenting with gingival overgrowth and other enlargements of gingival tissues.

  17. [Clinical research II. Studying the process (the diagnosis test)].

    PubMed

    Talavera, Juan O; Wacher-Rodarte, Niels H; Rivas-Ruiz, Rodolfo

    2011-01-01

    A diagnosis test is carried out to establish the presence of health or illness. In the latter it could grade the severity. Due to its importance in clinical decisions, the diagnosis test is evaluated by mathematical strategies. We estimate the sensitivity and specificity once we know the existence or not of the disease, but we act in the reverse direction; with the presence "X" test positive or negative we estimate the presence of the disease, therefore, we use the positive and negative predictive values. Mathematical strategy allow us to quantify the observation, but it requires judgment to determine the quality making use of a minimum of features: a) selection under the same criteria for cases and controls; b) the inclusion of the full spectrum of disease severity (from mild to the most serious, ensuring that all levels have an enough number of subjects); c) the interpretation of both, the gold standard and the new tool of diagnosis, it must be blind and conducted by experts; d) the interpretation of results should show us what is their application in everyday clinical practice; e) the reproducibility must be checked. Do not forget that usually, we treat only one patient at once, what enforce us to have full knowledge of the performance of the diagnostic test, and to consider all clinical aspects for its proper implementation.

  18. Clinical and pathological features of patients with nemaline myopathy.

    PubMed

    Yin, Xi; Pu, Chuan Qiang; Wang, Qian; Liu, Jie Xiao; Mao, Yan Ling

    2014-07-01

    Nemaline myopathy (NM) is a rare congenital myopathy of great heterogeneity, characterized by the presence of rods in the cytoplasm of muscle fibers. This study aimed to summarize and analyze retrospectively the clinicopathological features of 28 patients with NM. Among the 28 patients, 15 were classified as of the typical congenital type, manifested as lower- or four-limb weakness as the first symptom and slowly progressive course. Six patients were classified as of childhood onset type, with lower-limb weakness and progressive course. Seven patients were classified as of the adult onset type, with rapidly progressive course and obvious muscle atrophy. Patient's 1, 16 and 23 had rapid clinical progression. On follow up, the three patients showed respiratory failure. Limb weakness in all patients was proximal‑dominant. Hypotonia was observed in most patients. High arched feet were also observed as dysmorfic features. In all patients, the creatine kinase (CK) level was normal or mildly elevated, and electromyography revealed myogenic changes. Nemaline bodies were observed under a light microscope in more than half of the patients' muscle fibers, and especially in type I fibers. All patients showed fiber type I predominance and atrophy. Modified Gömöri trichrome staining showed characteristic purple‑colored rods. Muscle electron microscopy revealed the presence of high electron‑dense nemaline bodies around the nucleus, and of a disorganized myofibrillar apparatus, with broken myofilaments and irregular myofibrils and Z lines. The 28 patients with NM shared a number of clinical features, such as proximal limb weakness, reduced deep tendon reflex and dysmorfic features. Differences were also observed between the three types of patients, with regards to course progression, disease severity and respiratory failure. In conclusion, patients with NM showed great clinical heterogeneity. The diagnosis of NM was mainly based on the muscle biopsy.

  19. Clinical features of childhood granulomatosis with polyangiitis (wegener's granulomatosis).

    PubMed

    Bohm, Marek; Gonzalez Fernandez, Maria Isabel; Ozen, Seza; Pistorio, Angela; Dolezalova, Pavla; Brogan, Paul; Barbano, Giancarlo; Sengler, Claudia; Klein-Gitelman, Marisa; Quartier, Pierre; Fasth, Anders; Herlin, Troels; Terreri, Maria Teresa R A; Nielsen, Susan; van Rossum, Marion A J; Avcin, Tadej; Castell, Esteban Rodolfo; Foeldvari, Ivan; Foell, Dirk; Kondi, Anuela; Koné-Paut, Isabelle; Kuester, Rolf-Michael; Michels, Hartmut; Wulffraat, Nico; Amer, Halima Ben; Malattia, Clara; Martini, Alberto; Ruperto, Nicolino

    2014-01-01

    Granulomatosis with polyangiitis (GPA), formerly known as Wegener's granulomatosis (WG), belongs to the group of ANCA-associated necrotizing vasculitides. This study describes the clinical picture of the disease in a large cohort of GPA paediatric patients. Children with age at diagnosis ≤ 18 years, fulfilling the EULAR/PRINTO/PRES GPA/WG classification criteria were extracted from the PRINTO vasculitis database. The clinical signs/symptoms and laboratory features were analysed before or at the time of diagnosis and at least 3 months thereafter and compared with other paediatric and adult case series (>50 patients) derived from the literature. The 56 children with GPA/WG were predominantly females (68%) and Caucasians (82%) with a median age at disease onset of 11.7 years, and a median delay in diagnosis of 4.2 months. The most frequent organ systems involved before/at the time of diagnosis were ears, nose, throat (91%), constitutional (malaise, fever, weight loss) (89%), respiratory (79%), mucosa and skin (64%), musculoskeletal (59%), and eye (35%), 67% were ANCA-PR3 positive, while haematuria/proteinuria was present in > 50% of the children. In adult series, the frequency of female involvement ranged from 29% to 50% with lower frequencies of constitutional (fever, weight loss), ears, nose, throat (oral/nasal ulceration, otitis/aural discharge), respiratory (tracheal/endobronchial stenosis/obstruction), laboratory involvement and higher frequency of conductive hearing loss than in this paediatric series. Paediatric patients compared to adults with GPA/WG have similar pattern of clinical manifestations but different frequencies of organ involvement.

  20. Clinical Features of Lysosomal Acid Lipase Deficiency

    PubMed Central

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

    2015-01-01

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

  1. Clinical Features of Lysosomal Acid Lipase Deficiency.

    PubMed

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

    2015-12-01

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

  2. [Clinical features of 233 cases of keratoconus].

    PubMed

    Li, Shao-wei; Li, Zhao-xia; Shi, Wei-yun; Zeng, Qing-yan; Jin, Xiu-ming

    2005-07-01

    To analyze clinical features of keratoconus. The case history of keratoconus patients who underwent penetrating keratoplasty, epikeratophakia or deep lamellar keratoplasty in our hospital during January 1993 to March 2002 was reviewed, and inquiry form was sent to those who without complete data. Patients were followed during January 2000 to March 2002. Two hundred and thirty three cases of keratoconus were enrolled in this study with 216 males and 17 females. Patient's family history, systemic complications, refractive status, progress of disease, eye axial length and anterior chamber depth were recorded. The clinical natural history of these patients followed the model of "myopia-astigmatism-poor spectacle correction-acute corneal hydrops or stromal scar". The presenting age of myopia ranged from 6 to 29 years, with a mean age of 13.8 years, 10.1% (22/219) of the patients were younger than 10 years, 67.1% (147/219) were between 11 and 15 years. The interval time between emerging myopia and poor spectacle correction (best corrected visual acuity less than 20/200) was ranged from 1 to 20 years, of which 85.2% (161/189) were shorter than 6 years. Twenty percent (47/233) of the patients had acute corneal hydrops in one eye at the age of 12 to 31 years, and 4.3% of them (2/47) resulted in corneal perforation. Thirty-four patients had corneal stromal scars 1 to 13 years after keratoconus developed, and 94.1% of them (32/34) were within 8 years. Topography examination demonstrated a tendency of the cone base position progress: first, paracentral-enlargement following dominant astigmatism axis, then, enlargement along smaller astigmatism axis, and finally, the cone base moving centrally. The eye axial length averaged at (25.9 +/- 1.4) mm, the depth of anterior chamber (AC) were (4.3 +/- 0.3) mm, 89.7% (279/311) eyes had an axial length longer than 24 mm. All cases had an asymmetry clinical progress course. Two cases had Down syndrome, 2 with intelligence defect. No

  3. [Thyroid nodules: clinical management and differential diagnosis].

    PubMed

    Giovanella, L

    2009-01-21

    Thyroid nodules are common and are frequently benign. The prevalence of thyroid nodules ranges from 3-7% (palpation) to 50% (ultrasonography). Thyroid cancer occurs in 5-10% of nodules. Thyroid ultrasonography (US) is not a screening test but all patients with palpable thyroid nodule should undergo US examination. US-guided fine-needle aspiration citology (FNC) is recommendend for nodules with suspicious features at US examination or when clinical risk factors occur. A radioisotope scan is useful if the TSH is low or suppressed to detect (benign) functioning nodules.

  4. Anaphylaxis in children: clinical and allergologic features.

    PubMed

    Novembre, E; Cianferoni, A; Bernardini, R; Mugnaini, L; Caffarelli, C; Cavagni, G; Giovane, A; Vierucci, A

    1998-04-01

    Despite the importance of anaphylaxis, little information is available on its clinical features. To evaluate the clinical and allergologic features of anaphylaxis in children referred to the allergology and immunology unit of A. Meyer Children's Hospital (Florence, Italy) from 1994 to 1996. Ninety-five episodes of anaphylaxis occurred in 76 children (50 boys and 26 girls). Sixty-six children (87%) had only one episode of anaphylaxis, while 10 (13%) had two or more episodes. Sixty-two (82%) of the 76 patients had a personal history of atopic symptoms, although 14 (18%) did not. Sixty (79%) of the 76 children studied had at least one positive skin prick test to one or more of the common inhalant and/or food allergens. Children with venom-induced anaphylaxis usually had negative skin tests to the allergens tested. A younger age and eczema were more frequent among children with food-dependent anaphylaxis, whereas an older age together with urticaria-angioedema were common among those with exercise-induced anaphylaxis. The mean latent period (+/-SD) of the anaphylaxis episodes was 15.4 +/- 27.5 minutes. Skin and respiratory manifestations had an earlier onset and were more common than the gastrointestinal and cardiovascular ones. The most frequent clinical manifestation in children with food anaphylaxis was gastrointestinal symptoms, whereas cardiovascular symptoms were rare. The most probable causative agents in the 95 episodes described were foods (57%), drugs (11%), hymenoptera venom (12%), exercise (9%), additives (1%), specific immunotherapy (1%), latex (1%), and vaccines (2%), but in 6 cases (6%) the agent was never determined. Among the foods, seafood and milk were the most frequently involved. As for location, 57% of the anaphylactic events occurred in the home (54/95), 12% outdoors (11/95); 5% in restaurants (5/95); 3% in the doctor's office (3/95); 3% in hospitals (3/95); 3% on football fields (3/95); 2% on the beach (2/95); 1% in the gym (1/95); 1% at school

  5. [Incidence and clinical features of anaphylaxis during general anesthesia].

    PubMed

    Nabatame, Maki; Mori, Masanobu; Ikeda, Yoshikazu; Matsushita, Mitsuji; Tsujimura, Shigehisa

    2010-02-01

    Anaphylaxis is an acute life-threatening systematic reaction, and it requires early diagnosis and correct management to save the patients. The true incidence of anaphylaxis during general anesthesia is unknown. Although anaphylaxis is a rare intraoperative complication, most drugs used in the perioperative period can lead to anaphylaxis. All patients who had received operations under general anesthesia in our hospital were covered in this study during the 5-year period. We searched for the incidence and clinical features of anaphylaxis retrospectively. Seven cases in 9,844 patients were recognized. Various drugs were suspected as causal agents, but they were all nonanesthesia related drugs. The diagnosis of anaphylaxis relied on the history and clinical course of each patient. There was no reliable diagnostic testing such as serum tryptase and skin test. So we could not determine whether the reaction was IgE-mediated or not. Immediate discontinuation of causal drugs and early administration of epinephrine are cornerstones of treatment. More specific diagnostic tests are required for correct identification of causal drugs. To reduce the risk of anaphylaxis during anesthesia, we hope practical data bases and guidelines for anaphylaxis related to anesthesia will be published in the future.

  6. Body dysmorphic disorder among dermatologic patients: Prevalence and clinical features.

    PubMed

    Conrado, Luciana Archetti; Hounie, Ana Gabriela; Diniz, Juliana Belo; Fossaluza, Victor; Torres, Albina Rodrigues; Miguel, Euripedes Constantino; Rivitti, Evandro Ararigboia

    2010-08-01

    An impairing preoccupation with a nonexistent or slight defect in appearance is the core symptom of body dysmorphic disorder (BDD), a psychiatric condition common in dermatology settings. We sought to determine the prevalence of BDD in dermatologic patients, comparing general and cosmetic settings, and describing some demographic and clinical characteristics. In all, 300 patients were consecutively assessed. Screening and diagnoses were performed with validated instruments plus a best estimate diagnosis procedure. The final sample comprised 150 patients in the cosmetic group, 150 patients in the general dermatology group, and 50 control subjects. Standard statistical analyses were performed (chi(2), nonparametric tests, logistic regression). The current prevalence was higher in the cosmetic group (14.0%) compared with general (6.7%) and control (2.0%) groups. No patient had a previous diagnosis. Frequently the reason for seeking dermatologic treatment was not the main BDD preoccupation. Patients with BDD from the cosmetic group were in general unsatisfied with the results of dermatologic treatments. Cross-sectional study conducted in a university hospital is a limitation. It is uncertain if the findings can be generalized. Retrospective data regarding previous treatments are not free from bias. BDD is relatively common in a dermatologic setting, especially among patients seeking cosmetic treatments. These patients have some different features compared with general dermatology patients. Dermatologists should be aware of the clinical characteristics of BDD to identify and refer these patients to mental health professionals. Copyright 2009 American Academy of Dermatology, Inc. Published by Mosby, Inc. All rights reserved.

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

    PubMed Central

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

    2014-01-01

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

  8. [Diagnosis and Clinical Examination of Autoinflammatory Syndrome].

    PubMed

    Ida, Hiroaki

    2015-05-01

    Autoinflammatory syndrome is characterized by: 1) episodes of seemingly unprovoked inflammation, 2) the absence of a high titer of autoantibodies or auto-reactive T cells, and 3) an inborn error of innate immunity. In this decade, many autoinflammatory syndromes have been reported in Japan, and so many Japanese physicians have become aware of this syndrome. Monogenic autoinflammatory syndromes present with excessive systemic inflammation including fever, rashes, arthritis, and organ-specific inflammation and are caused by defects in single genes encoding proteins that regulate innate inflammatory pathways. The main monogenic autoinflammatory syndromes are familial Mediterranean fever (FMF), TNF receptor-associated periodic syndrome (TRAPS), mevalonate kinase deficiency (MKD), cryopyrin-associated periodic syndrome (CAPS), Blau syndrome, and pyogenic arthritis, pyoderma gangrenosum, and acne (PAPA) syndrome. We diagnosed these syndromes as clinical manifestations and performed genetic screening. Many serum cytokines are elevated in patients with autoinflammatory syndrome, but this is not disease-specific. The pathogeneses of many autoinflammatory syndromes are known to be related to inflammasomes, which are multiprotein complexes that serve as a platform for caspase 1 activation and interleukin-1β (IL-1β) and IL-18 muturation. Especially, NLRP3 inflammasomes may play a crucial role in the intiation and progression of FMF and CAPS. In the future, we hope to discover new clinical examinations which can provide evidence of inflammasome activation independent of genetic screening. In this issue, I introduce autoinflammatory syndromes and discuss the diagnosis and clinical examination of these syndromes.

  9. Computer-aided diagnosis in CT colonography: detection of polyps based on geometric and texture features

    NASA Astrophysics Data System (ADS)

    Yoshida, Hiroyuki; Naeppi, Janne J.; Frimmel, Hans; Dachman, Abraham H.

    2002-05-01

    A computer-aided diagnosis scheme for the detection of colonic polyps in CT colonography has been developed, and its performance has been assessed based on clinical cases with colonoscopy-confirmed polyps. In the scheme, the colon was automatically segmented by use of knowledge-guided segmentation from 3-dimensional isotropic volumes reconstructed from axial CT slices in CT colonography. Polyp candidates are detected by first computing of 3-dimensional geometric features that characterize polyps, and then segmenting of connected components corresponding to suspicious regions by hysteresis thresholding and fuzzy clustering based on these geometric features. False-positive detections are reduced by computation of 3-dimensional texture features characterizing the internal structures of the polyp candidates, followed by application of discriminant analysis to the feature space generated by the geometric and texture features. We applied our scheme to 43 CT colonographic cases with cleansed colon, including 12 polyps larger than 5 mm. In a by-dataset analysis, the CAD scheme yielded a sensitivity of 95% with 1.2 false positives per data set. The false negative was one of the two polyps in a single patient. Consequently, in by-patient analysis, our method yielded 100% sensitivity with 2.0 false positives per patient. The results indicate that our CAD scheme has the potential to detect clinically important polyp cases with a high sensitivity and a relatively low false-positive rate.

  10. [Cardiac metastases. Clinical arguments of the diagnosis].

    PubMed

    Sirinelli, A; Le Guludec, D; Sicre, P; Davy, J M; Motté, G

    1987-05-01

    The case reported here concerns an 80-year old man without history of coronary disease whose electrocardiogram showed localized and stable repolarization disorders, viz. elevated ST segment with isoelectric point J and negative T wave. This pattern suggested cardiac metastasis after chest examination had revealed a bronchial epidermoid carcinoma. Two-dimensional echocardiography showed that the lateral wall of the left ventricle was thickened, hyperechogenic and akinetic. The secondary cardiac lesions were confirmed at pathological examination. This case has prompted us to discuss the frequency of such secondary tumours of the heart, their mode of dissemination to the myocardium and their clinical and electrocardiographic aspects. It underlines the usefulness of echocardiography for the diagnosis of cardiac tumours.

  11. Diagnosis of Sanfilippo disease correlating clinical, radiological and biochemical findings-a case report.

    PubMed

    Agrawal, Udit; Meshram, Ajay; Vagha, Jayant; Swarnkar, Kirti; Palandurkar, Kamlesh

    2012-10-01

    Mucopolysaccharidoses (MPS) are a group of genetic diseases and its diagnosis is a challenging task due to multiple differential diagnosis. We had combined clinical findings, radiological and ophthalmological features. Biochemical test for urine glycosaminoglycans (GAG) was done for confirmation of diagnosis in the patient. The case of Sanfilippo disease was characterized by slowly progressive, severe CNS involvement with mild somatic disease. Radiological features were suggestive of Sanfilippo disease and urine GAG test for MPS was positive in the case. With the clinical features we had multiple differential diagnoses. The radiological investigations minimized the list and the biochemical test confirmed GAG in urine. In this case the combination of clinical, radiological and biochemical findings confirmed the diagnosis of Sanfilippo disease.

  12. The Clinical Features of Myositis-Associated Autoantibodies: a Review.

    PubMed

    Gunawardena, Harsha

    2017-02-01

    The idiopathic inflammatory myopathies (IIM) are a group of autoimmune diseases traditionally defined by clinical manifestations including skeletal muscle weakness, skin rashes, elevated skeletal muscle enzymes, and neurophysiological and/or histological evidence of muscle inflammation. Patients with myositis overlap can develop other features including parenchymal lung disease, inflammatory arthritis, gastrointestinal manifestations and marked constitutional symptoms. Although patients may be diagnosed as having polymyositis (PM) or dermatomyositis (DM) under the IIM spectrum, it is quite clear that disease course between subgroups of patients is different. For example, interstitial lung disease may predominate in some, whereas cutaneous complications, cancer risk, or severe refractory myopathy may be a significant feature in others. Therefore, tools that facilitate diagnosis and indicate which patients require more detailed investigation for disease complications are invaluable in clinical practice. The expanding field of autoantibodies (autoAbs) associated with connective tissue disease (CTD)-myositis overlap has generated considerable interest over the last few years. Using an immunological diagnostic approach, this group of heterogeneous conditions can be separated into a number of distinct clinical phenotypes. Rather than diagnose a patient as simply having PM, DM or overlap CTD, we can define syndromes to differentiate disease subsets that emphasise clinical outcomes and guide management. There are now over 15 CTD-myositis overlap autoAbs found in patients with a range of clinical manifestations including interstitial pneumonia, cutaneous disease, cancer-associated myositis and autoimmune-mediated necrotising myopathy. This review describes their diagnostic utility, potential role in disease monitoring and response to treatment. In the future, routine use of these autoAb will allow a stratified approach to managing this complex set of conditions.

  13. [Pathologic diagnosis and clinical analysis of chronic extrinsic allergic alveolitis].

    PubMed

    Diao, Xiao-li; Jin, Mu-lan; Dai, Hua-ping; Li, Xue; Wei, Ping; Zhang, Yun-gang

    2011-11-01

    To study the clinicopathologic features and diagnostic approach of chronic extrinsic allergic alveolitis (EAA). Seven cases of chronic EAA diagnosed by open lung biopsy or lung transplant were enrolled into the study. The clinical and pathologic features were analyzed and the literature was reviewed. There were altogether 4 men and 3 women. The age of the patients ranged from 30 to 65 years (mean = 48 years). All cases represented chronic form and five cases diagnosed by open lung biopsy also showed features of recent aggravation, leading to hospitalization. Four cases had known history of exposure to inciting gases, pollens and pets, and only 2 cases were positive for allergens. High-resolution CT scan showed ground-glass attenuation and reticular pattern that often had a patchy distribution and central predominance. Bronchoalveolar lavage analysis showed marked lymphocytosis, with CD4(+)/CD8(+) ratio less than 1. Lung function test demonstrated a restrictive ventilatory defect, with decreased compliance, reduced diffusion capacity and high airway obstruction. Five cases had open lung biopsy performed and two cases had undergone lung transplantation. Pathologic examination showed bronchiolocentric cellular interstitial pneumonia, interstitial fibrosis, non-caseating epithelioid granulomas, epithelioid histiocytic infiltrate in the respiratory bronchioles and intraluminal budding fibrosis. The five cases with open lung biopsy performed also showed neutrophilic infiltrate in the alveoli. The two lung transplant cases were complicated by severe fibrotic changes. Chronic EAA demonstrates characteristic pathologic features. Definitive diagnosis requires correlation with clinical and radiologic findings due to possible morphologic mimicry of other diffuse parenchymal lung diseases.

  14. Functional voice disorders: Clinical presentations and differential diagnosis.

    PubMed

    Baker, J

    2016-01-01

    In this chapter, an overview of the heterogeneous group of functional voice disorders is given, including the psychogenic voice disorder (PVD) and hyperfunctional or muscle tension voice disorder (MTVD) subgroups. Reference is made to prevalence and demographic data, with empiric evidence for psychosocial factors commonly associated with the onset and maintenance of these disorders. Clinical features that distinguish between the different presentations of PVD and MTVD are described. While there are some shared characteristics, key differences between these two subgroups indicate that PVD more closely resembles the psychogenic movement disorders and a range of other functional neurologic disorders. Assessment procedures and auditory-perceptual features of the voice that distinguish these disorders from the neurologically based voice disorders are discussed, with case examples highlighting ambiguous features that may influence differential diagnosis. The clinical profiles of PVD and MTVD affirm approaches to clinical management by speech-language pathologists that integrate symptomatic behavioral voice therapy with "top-down" models of counseling or psychotherapy. They also support the proposition that PVD may be construed as a subtype of functional neurologic disorders. © 2016 Elsevier B.V. All rights reserved.

  15. [Analysis of six cases concerning clinical features of rhinolith].

    PubMed

    Ran, Xiangqun; Zhao, Xingyu; Tong, Hongxia

    2014-11-01

    To analyze six cases concerning clinical features, the treatment process and curative effect of Rhinolith. The six patients had unilateral nasal obstruction, three of them were accompanied with purulent nasal discharge, two had blood with them, one patient had repeated hemorrhage of nasal cavity and two patients had developed headache. By using endoscopic, four irregular stones which are yellow, gray and brown were found in the middle and back end. Because of the severe nasal septum deviation and inferior turbinate polypoid, the stone could not be seen clearly but could be touched by aspirator. In sinus CT examination of 6 cases, it showed incomplete irregular shapes and had high density unilateral nasal cavity in the posterior segment. 4 patients had nasal deviation, 3 patients had ipsilateral sinusitis. 4 patients removed their stone by using endoscopy, 2 patients took the stone away after correction of nasal septum. Pathologic diagnosis: rhinolith. Two patients also had exogenous foreign matters which were considered as pseudo nasal stones.

  16. Nonautistic motor stereotypies: clinical features and longitudinal follow-up.

    PubMed

    Harris, Kendra M; Mahone, E Mark; Singer, Harvey S

    2008-04-01

    To characterize further the clinical features and long-term outcomes among children with motor stereotypies who do not manifest mental retardation or pervasive developmental disorders, a review of clinical records and semistructured telephone interviews were undertaken. The identified clinical cohort consisted of 100 typically developing children with motor stereotypies. The mean length of follow-up was 6.8 +/- 4.6 years. At most recent follow-up, movements had continued in 94% of the sample (62% for >5 years). Only six children reported complete cessation of movements, with four (3 of 4 with head nodding) doing so >1 year after their initial diagnosis. Thus the course of motor stereotypies, especially in children with arm/hand movements, appears chronic. Nearly half the children in this cohort exhibit other comorbidities, including attention-deficit-hyperactivity disorder (30%), tics (18%), and obsessive-compulsive behaviors/obsessive-compulsive disorder (10%). Twenty-five percent of children with motor stereotypies reported positive family histories of motor stereotypies, suggesting an underlying genetic abnormality. Finally, evidence is emerging that the clinical course of children who exhibit head nodding may differ from those whose motor stereotypy predominantly involves the hands and arms.

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

    SciTech Connect

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

    1982-01-01

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

  18. Combination of 3D skin surface texture features and 2D ABCD features for improved melanoma diagnosis.

    PubMed

    Ding, Yi; John, Nigel W; Smith, Lyndon; Sun, Jiuai; Smith, Melvyn

    2015-10-01

    Two-dimensional asymmetry, border irregularity, colour variegation and diameter (ABCD) features are important indicators currently used for computer-assisted diagnosis of malignant melanoma (MM); however, they often prove to be insufficient to make a convincing diagnosis. Previous work has demonstrated that 3D skin surface normal features in the form of tilt and slant pattern disruptions are promising new features independent from the existing 2D ABCD features. This work investigates that whether improved lesion classification can be achieved by combining the 3D features with the 2D ABCD features. Experiments using a nonlinear support vector machine classifier show that many combinations of the 2D ABCD features and the 3D features can give substantially better classification accuracy than using (1) single features and (2) many combinations of the 2D ABCD features. The best 2D and 3D feature combination includes the overall 3D skin surface disruption, the asymmetry and all the three colour channel features. It gives an overall 87.8 % successful classification, which is better than the best single feature with 78.0 % and the best 2D feature combination with 83.1 %. These demonstrate that (1) the 3D features have additive values to improve the existing lesion classification and (2) combining the 3D feature with all the 2D features does not lead to the best lesion classification. The two ABCD features not selected by the best 2D and 3D combination, namely (1) the border feature and (2) the diameter feature, were also studied in separate experiments. It found that inclusion of either feature in the 2D and 3D combination can successfully classify 3 out of 4 lesion groups. The only one group not accurately classified by either feature can be classified satisfactorily by the other. In both cases, they have shown better classification performances than those without the 3D feature in the combinations. This further demonstrates that (1) the 3D feature can be used to

  19. Clinical and microbiological features of maternal sepsis: a retrospective study.

    PubMed

    Abir, G; Akdagli, S; Butwick, A; Carvalho, B

    2017-02-01

    Identifying pregnant women with sepsis is challenging because diagnostic clinical and laboratory criteria overlap with normal pregnant physiologic indices. Our primary study aim was to describe clinical and laboratory characteristics of women diagnosed with sepsis, severe sepsis and septic shock. Our secondary aim was to determine positive predictive values for International Classification of Disease (ICD)-9 billing codes for sepsis, severe sepsis, and septic shock. After gaining Institutional Review Board approval, we identified women with ICD-9 codes for sepsis, severe sepsis and septic shock who were admitted to a single tertiary obstetric center from 2007-2013. Diagnoses were confirmed using criteria from the International Sepsis Definitions Conference report. Demographic, obstetric, vital signs and laboratory data were abstracted by medical chart review. We identified 190 women with sepsis-related ICD-9 codes: of these, 35 (18%) women met the criteria for a clinical diagnosis of sepsis, severe sepsis or septic shock. Twenty (57%) women had a sepsis-related diagnosis after cesarean delivery. Twenty-one (60%) women had one or more pre-existing medical conditions and 19 (54%) women had one or more obstetric-related conditions. The genital tract was the most common site of infection. We observed considerable heterogeneity in maternal vital signs and laboratory indices for women with ICD-9 codes for sepsis, severe sepsis, and septic shock. The positive predictive value for each sepsis-related ICD-9 code was low: 16% (95% CI 10 to 24%) for sepsis, 10% (95% CI 3 to 25%) for severe sepsis and 24% (95% CI 10 to 46%) for septic shock. We identified marked heterogeneity in patient characteristics, clinical features, laboratory indices and microbiological findings among cohorts of women diagnosed with maternal sepsis, severe sepsis or septic shock. Based on our findings, the incidence of maternal sepsis using ICD-9 codes may be significantly overestimated. Copyright

  20. Clinical Features and Treatments of Odontogenic Sinusitis

    PubMed Central

    Lee, Sung Jin

    2010-01-01

    Purpose The aim of this study was to investigate how clinical features such as sex, age, etiologic factors, and presenting symptoms of odontogenic sinusitis are differentiated from other types of sinusitis. Also, this study was designed to find methods for reducing the incidence of odontogenic sinusitis. Materials and Methods A retrospective chart analysis was completed on twenty-seven patients with odontogenic sinusitis. They were all treated at Kangbuk Samsung Hospital between February 2006 and August 2008. The study protocol and informed consent forms were approved by the institutional review boards for human beings at Kangbuk Samsung Hospital. Results Ten patients (37.0%) had dental implant related complications and 8 (29.6%) had dental extraction related complications. Unilateral purulent nasal discharge was the most common symptom (66.7%). The therapeutic modality included transnasal endoscopic sinus surgery in 19 (70.4%) patients, and a Caldwell-Luc operation in two (7.4%) patients. Conclusion In our study, there was no significant difference in the incidence between genders. The average age of the patients was 42.9 years. The incidence was highest in the fourth decade. There were no significant differences between the symptoms of odontogenic sinusitis and that of other types of sinusitis. However, almost all of the patients with odontogenic sinusitis had unilateral symptoms. Iatrogenic causes, which include dental implants and dental extractions, were the most common etiologic factors related to the development of odontogenic sinusitis. Therefore, a preoperative consultation between a rhinologist and a dentist prior to the dental procedure should be able to reduce the incidence of odontogenic sinusitis. PMID:20879062

  1. Clinical features and treatments of odontogenic sinusitis.

    PubMed

    Lee, Kyung Chul; Lee, Sung Jin

    2010-11-01

    The aim of this study was to investigate how clinical features such as sex, age, etiologic factors, and presenting symptoms of odontogenic sinusitis are differentiated from other types of sinusitis. Also, this study was designed to find methods for reducing the incidence of odontogenic sinusitis. A retrospective chart analysis was completed on twenty-seven patients with odontogenic sinusitis. They were all treated at Kangbuk Samsung Hospital between February 2006 and August 2008. The study protocol and informed consent forms were approved by the institutional review boards for human beings at Kangbuk Samsung Hospital. Ten patients (37.0%) had dental implant related complications and 8 (29.6%) had dental extraction related complications. Unilateral purulent nasal discharge was the most common symptom (66.7%). The therapeutic modality included transnasal endoscopic sinus surgery in 19 (70.4%) patients, and a Caldwell-Luc operation in two (7.4%) patients. In our study, there was no significant difference in the incidence between genders. The average age of the patients was 42.9 years. The incidence was highest in the fourth decade. There were no significant differences between the symptoms of odontogenic sinusitis and that of other types of sinusitis. However, almost all of the patients with odontogenic sinusitis had unilateral symptoms. Iatrogenic causes, which include dental implants and dental extractions, were the most common etiologic factors related to the development of odontogenic sinusitis. Therefore, a preoperative consultation between a rhinologist and a dentist prior to the dental procedure should be able to reduce the incidence of odontogenic sinusitis.

  2. Clinical and microbiologic features of dacryocystitis-related orbital cellulitis.

    PubMed

    Wladis, Edward J; Shinder, Roman; LeFebvre, Daniel R; Sokol, Jason A; Boyce, Michelle

    2016-10-01

    Dacryocystitis-related orbital cellulitis is a relatively rare condition, and large case series of this clinical entity have been reported. This study was undertaken to identify a larger cohort of patients with this ailment, with the intent of defining its clinical and microbiologic features. Case logs from four institutions were reviewed to identify patients that suffered from dacryocystitis-related orbital cellulitis. A retrospective chart review was then performed to identify clinical features, management strategies, microbiologic features, and outcomes. A dedicated statistical software package was utilized to identify correlations between these variables. 13 patients (7 females, 6 males; mean age = 57.2 years, range = 7-89 years) were identified. One patient carried a diagnosis of immunosuppressive disease. All patients underwent emergent surgical drainage and received intravenous antibiotics. Primary acquired nasolacrimal duct obstruction was found to be the underlying etiology in nine cases (69.2%), whereas four patients suffered from specific causes of their obstructions. An average of 1.07 organisms/patient (standard deviation = 0.49 organisms/patient) were recovered from microbiologic cultures, and Gram-positive bacteria represented the majority of cultured organisms. All patients experienced either stable or improved vision upon discharge. The relationships between a specific etiology and the possibility of vision loss or the number of organisms cultured, between the number of organisms cultured and vision loss, and immunosuppression and vision loss or the number of organisms cultured were all not statistically significant (p > 0.05). Dacryocystitis-related orbital cellulitis most commonly occurs in adult patients who do not carry immunosuppressive diagnoses and suffer from primary obstructions. Multiple microbiologic species may cause this problem, although Gram-positive organisms are most common. With appropriate management, stable or improved vision

  3. Computer-aided diagnosis and artificial intelligence in clinical imaging.

    PubMed

    Shiraishi, Junji; Li, Qiang; Appelbaum, Daniel; Doi, Kunio

    2011-11-01

    Computer-aided diagnosis (CAD) is rapidly entering the radiology mainstream. It has already become a part of the routine clinical work for the detection of breast cancer with mammograms. The computer output is used as a "second opinion" in assisting radiologists' image interpretations. The computer algorithm generally consists of several steps that may include image processing, image feature analysis, and data classification via the use of tools such as artificial neural networks (ANN). In this article, we will explore these and other current processes that have come to be referred to as "artificial intelligence." One element of CAD, temporal subtraction, has been applied for enhancing interval changes and for suppressing unchanged structures (eg, normal structures) between 2 successive radiologic images. To reduce misregistration artifacts on the temporal subtraction images, a nonlinear image warping technique for matching the previous image to the current one has been developed. Development of the temporal subtraction method originated with chest radiographs, with the method subsequently being applied to chest computed tomography (CT) and nuclear medicine bone scans. The usefulness of the temporal subtraction method for bone scans was demonstrated by an observer study in which reading times and diagnostic accuracy improved significantly. An additional prospective clinical study verified that the temporal subtraction image could be used as a "second opinion" by radiologists with negligible detrimental effects. ANN was first used in 1990 for computerized differential diagnosis of interstitial lung diseases in CAD. Since then, ANN has been widely used in CAD schemes for the detection and diagnosis of various diseases in different imaging modalities, including the differential diagnosis of lung nodules and interstitial lung diseases in chest radiography, CT, and position emission tomography/CT. It is likely that CAD will be integrated into picture archiving and

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

    PubMed Central

    Song, Fujian; Riera, Ricardo; Sambandan, Sidha

    2010-01-01

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

  5. 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

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

    PubMed

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

    2013-01-01

    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. 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. 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. 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.

  7. Prevalence and Clinical Features of Focal Takotsubo Cardiomyopathy.

    PubMed

    Kato, Ken; Kitahara, Hideki; Fujimoto, Yoshihide; Sakai, Yoshiaki; Ishibashi, Iwao; Himi, Toshiharu; Kobayashi, Yoshio

    2016-07-25

    Because it is difficult to distinguish between focal takotsubo cardiomyopathy and aborted myocardial infarction, there is little information about the prevalence and clinical features of focal takotsubo cardiomyopathy. Our cardiac catheterization databases were queried to identify patients with focal takotsubo cardiomyopathy and other types of takotsubo cardiomyopathy. We defined focal takotsubo cardiomyopathy as hypo-, a- or dyskinesis in both anterolateral and septal segments without obstructive coronary artery disease explaining the wall motion abnormality. A total of 10 patients were diagnosed with focal takotsubo cardiomyopathy. The control group comprised patients with takotsubo cardiomyopathy with apical, mid-ventricular, or basal ballooning. Clinical features and in-hospital outcomes were compared between patients with focal takotsubo cardiomyopathy and those with other types of takotsubo cardiomyopathy. Among the 144 patients with takotsubo cardiomyopathy, the apical, mid-ventricular, basal, and focal types occurred in 85 (59.0%), 49 (34.0%), 0 (0%), and 10 patients (6.9%), respectively. The left ventricular ejection fraction was significantly higher in the focal group compared with the apical and mid-ventricular group (56±13 vs. 45±13 vs. 46±12%, P=0.03). In-hospital outcome was not significantly different among the 3 groups. Focal takotsubo cardiomyopathy is not rare. Biplane left ventriculography is useful for its diagnosis. (Circ J 2016; 80: 1824-1829).

  8. Congenital cytomegalovirus infection: Clinical presentation, epidemiology, diagnosis and prevention

    PubMed Central

    van Zuylen, Wendy J; Hamilton, Stuart T; Naing, Zin; Hall, Beverly; Shand, Antonia

    2014-01-01

    Cytomegalovirus is the most common congenital infection causing serious disease in infants. It is the leading infectious cause of sensorineural hearing loss and neurodevelopmental disability in developed countries. Despite the clinical importance of congenital cytomegalovirus, surveys show there is limited awareness and knowledge in the medical and general community about congenital cytomegalovirus infection. This article reviews the clinical features, global epidemiology, transmission and risk factors for cytomegalovirus infections. It also highlights several major advances made in recent years in the diagnosis and prevention of cytomegalovirus infection during pregnancy. Although research is ongoing, no therapy is currently proven to prevent or treat maternal, fetal or neonatal cytomegalovirus infection. Education of women regarding hygiene measures can help prevent cytomegalovirus infection and are currently the best strategy to prevent congenital cytomegalovirus disease. PMID:27512442

  9. Clinical review: Pseudohypoparathyroidism: diagnosis and treatment.

    PubMed

    Mantovani, Giovanna

    2011-10-01

    The term pseudohypoparathyroidism (PHP) indicates a group of heterogeneous disorders whose common feature is represented by impaired signaling of various hormones (primarily PTH) that activate cAMP-dependent pathways via Gsα protein. The two main subtypes of PHP, PHP type Ia, and Ib (PHP-Ia, PHP-Ib) are caused by molecular alterations within or upstream of the imprinted GNAS gene, which encodes Gsα and other translated and untranslated products. A PubMed search was used to identify the available studies (main query terms: pseudohypoparathyroidism; Albright hereditary osteodystrophy; GNAS; GNAS1; progressive osseous heteroplasia). The most relevant studies until February 2011 have been included in the review. Despite the first description of this disorder dates back to 1942, recent findings indicating complex epigenetic alterations beside classical mutations at the GNAS complex gene, pointed out the limitation of the actual classification of the disease, resulting in incorrect genetic counselling and diagnostic procedures, as well as the gap in our actual knowledge of the pathogenesis of these disorders. This review will focus on PHP type I, in particular its diagnosis, classification, treatment, and underlying molecular alterations.

  10. Clinical and genetic features of Huntington disease in Sri Lanka.

    PubMed

    Sumathipala, Dulika S; Jayasekara, Rohan W; Dissanayake, Vajira H W

    2013-12-05

    Huntington disease was one of the first neurological hereditary diseases for which genetic testing was made possible as early as 1993. The study describes the clinical and genetic characteristics of patients with Huntington disease in Sri Lanka. Data of 35 consecutive patients tested from 2007 to 2012 at the Human Genetics Unit, Faculty of Medicine, University of Colombo was analyzed retrospectively. Clinical data and genetic diagnostic results were reviewed. Statistical analysis was performed using descriptive statistics. Thirty patients had fully penetrant (FP) CAG repeat mutations and 5 had reduced penetrant (RP) CAG repeat mutations. In the FP group mean ages of onset and diagnosis were 37.5 and 40.4 years, while in the RP group it was 63.0 and 64.8 years respectively. The age of diagnosis ranged from 15 to 72 years, with 2 patients with Juvenile onset (<20 years) and 3 with late onset (>60 years) Huntington disease. The symptoms at diagnosis were predominantly motor (32/35 -91%). Three patients had psychiatric and behavioral disorders. The age difference between onset and genetic diagnosis showed significant delay in females compared to males (p < 0.05). Twenty two (62.8%) had a positive family history, with 13/22 (59.1%) showing a paternal inheritance of the disease. In both groups, those with a family history had a significantly lower age of presentation (p < 0.05). The mean CAG repeat length in patients with FP alleles was 44.6 ± 5 and RP alleles was 37.2 ± 1.1. Age of onset and CAG repeat length of the HTT gene showed significant inverse correlation (p < 0.0005, R2 = 0.727). The clinical and genetic features seen in patients with Huntington disease in the Sri Lankan study population were similar to that previously reported in literature.

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

    PubMed

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

    1999-04-01

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

  12. Clostridium difficile: clinical disease and diagnosis.

    PubMed Central

    Knoop, F C; Owens, M; Crocker, I C

    1993-01-01

    Clostridium difficile is an opportunistic pathogen that causes a spectrum of disease ranging from antibiotic-associated diarrhea to pseudomembranous colitis. Although the disease was first described in 1893, the etiologic agent was not isolated and identified until 1978. Since clinical and pathological features of C. difficile-associated disease are not easily distinguished from those of other gastrointestinal diseases, including ulcerative colitis, chronic inflammatory bowel disease, and Crohn's disease, diagnostic methods have relied on either isolation and identification of the microorganism or direct detection of bacterial antigens or toxins in stool specimens. The current review focuses on the sensitivity, specificity, and practical use of several diagnostic tests, including methods for culture of the etiologic agent, cellular cytotoxicity assays, latex agglutination tests, enzyme immunoassay systems, counterimmunoelectrophoresis, fluorescent-antibody assays, and polymerase chain reactions. PMID:8358706

  13. [Clinical features of reversed halo sign in cryptogenic organizing pneumonia].

    PubMed

    Inoue, Yukihisa; Yoshimura, Nobuyuki; Shimada, Hiroyuki; Saito, Hiroaki; Shimizu, Kyouko; Kurata, Kiyoko; Kobayashi, Akiko; Yamazaki, Keiichi; Jin, Yasuto; Inase, Naohiko

    2011-02-01

    Reversed halo sign (RHS) is often seen in computed tomography (CT) scans of cryptogenic organizing pneumonia (COP). To investigate its clinical features, we retrospectively reviewed 30 cases of COP in 13 men and 17 women, whose age range 28 to 73, with a mean of 58.4 years. All diagnoses were made with transbronchial lung biopsy (TBLB), but it took an average of 24.8 days from the first visit until the diagnosis of COP. RHS was seen in 7 cases (23%) and multiple RHSs were seen in 3 cases. We treated 5 cases (71%) with steroids. Their CT images showed parenchymal abnormalities which started as nodular lesions, then enlarged, and then the central lesion changed into ground-glass opacities, until finally, RHS was formed. The presence of RHS does not necessarily indicate a marked difference in the clinical course of COP. In conclusion, in the present series RHS was a phase of the clinical course of COP, and was useful to diagnose COP.

  14. Clinical features and course of bacterial meningitis in children.

    PubMed

    Juganariu, Gabriela; Miftode, Egidia; Teodor, Danuţ; Leca, Daniela; Dorobăţ, Carmen-Mihaela

    2012-01-01

    To analyze the clinical features and course of and to define the risk factors for bacterial meningitis in children. Retrospective study of 100 cases of bacterial meningitis in patients aged 0-18 years admitted to the Iasi Infectious Diseases Hospital between 2005 and 2010. We found a clear prevalence in male children (58%) from rural area (67%), with the highest incidence in the age group 2-5 years. A significant percentage of patients (43%) had previous hospitalization, condition which is known as predisposing factor for bacterial meningitis, the most common being ear infections (20%) and height and weight deficit (9%). 71% of patients were admitted within the first 48 h. The most common onset clinical manifestations were fever (84%), vomiting (70%), signs of meningeal irritation (59%), somnolence (23%), loss of appetite (19%), and coma in 5% of patients. In 36% of cases CSF was opalescent with moderate pleocytosis (35%); in 29% of patients CSF albumin level ranged between 0.7-1.0 g, the majority presenting normal glycorahia (71%). In only 21% of cases the microbial agent was identified (pneumococcal and meningococcal etiology, 8% and 6%, respectively). The course was generally favorable, and mortality rate was low (5%). Complications occurred in 3% of patients consisting in hydrocephalus and brain abscess. Bacterial meningitis remains a disease with potentially severe course. Clinical onset, most commonly atypical in children, requires differential diagnosis at the time of admission in order to initiate the most appropriate antibiotic therapy.

  15. A Diagnosis to Consider in an Adult Patient with Facial Features and Intellectual Disability: Williams Syndrome

    PubMed Central

    Şimşek Kiper, Pelin Özlem; Utine, Gülen Eda; Alikaşifoğlu, Mehmet; Boduroğlu, Koray

    2017-01-01

    Williams syndrome (OMIM #194050) is a rare, well-recognized, multisystemic genetic condition affecting approximately 1/7,500 individuals. There are no marked regional differences in the incidence of Williams syndrome. The syndrome is caused by a hemizygous deletion of approximately 28 genes, including ELN on chromosome 7q11.2. Prenatal-onset growth retardation, distinct facial appearance, cardiovascular abnormalities, and unique hypersocial behavior are among the most common clinical features. Here, we report the case of a patient referred to us with distinct facial features and intellectual disability, who was diagnosed with Williams syndrome at the age of 37 years. Our aim is to increase awareness regarding the diagnostic features and complications of this recognizable syndrome among adult health care providers. Williams syndrome is usually diagnosed during infancy or childhood, but in the absence of classical findings, such as cardiovascular anomalies, hypercalcemia, and cognitive impairment, the diagnosis could be delayed. Due to the multisystemic and progressive nature of the syndrome, accurate diagnosis is critical for appropriate care and screening for the associated morbidities that may affect the patient's health and well-being. PMID:28360987

  16. A Diagnosis to Consider in an Adult Patient with Facial Features and Intellectual Disability: Williams Syndrome.

    PubMed

    Doğan, Özlem Akgün; Şimşek Kiper, Pelin Özlem; Utine, Gülen Eda; Alikaşifoğlu, Mehmet; Boduroğlu, Koray

    2017-03-01

    Williams syndrome (OMIM #194050) is a rare, well-recognized, multisystemic genetic condition affecting approximately 1/7,500 individuals. There are no marked regional differences in the incidence of Williams syndrome. The syndrome is caused by a hemizygous deletion of approximately 28 genes, including ELN on chromosome 7q11.2. Prenatal-onset growth retardation, distinct facial appearance, cardiovascular abnormalities, and unique hypersocial behavior are among the most common clinical features. Here, we report the case of a patient referred to us with distinct facial features and intellectual disability, who was diagnosed with Williams syndrome at the age of 37 years. Our aim is to increase awareness regarding the diagnostic features and complications of this recognizable syndrome among adult health care providers. Williams syndrome is usually diagnosed during infancy or childhood, but in the absence of classical findings, such as cardiovascular anomalies, hypercalcemia, and cognitive impairment, the diagnosis could be delayed. Due to the multisystemic and progressive nature of the syndrome, accurate diagnosis is critical for appropriate care and screening for the associated morbidities that may affect the patient's health and well-being.

  17. Phyllodes Tumor of the Breast: Histopathologic Features, Differential Diagnosis, and Molecular/Genetic Updates.

    PubMed

    Zhang, Yanhong; Kleer, Celina G

    2016-07-01

    -Phyllodes tumor (PT) of the breast is a rare fibroepithelial neoplasm with risks of local recurrence and uncommon metastases. The classification proposed by the World Health Organization for PTs into benign, borderline, and malignant is based on a combination of several histologic features. The differential diagnosis between PT and fibroadenoma and the histologic grading of PT remain challenging. In addition, the molecular pathogenesis of PT is largely unknown. -To provide an updated overview of pathologic features, diagnostic terminology, and molecular alterations of PT. -Current English literature related to PT of the breast. -Phyllodes tumor shows a wide spectrum of morphology. There are no clearly distinct boundaries between PT and fibroadenoma. Strict histologic assessment of a combination of histologic features with classification can help to achieve the correct diagnosis and provide useful clinical information. The genomic landscapes of PT generated from genomic sequencing provide insights into the molecular pathogenesis of PT and help to improve diagnostic accuracy and identify potential drug targets in malignant PT.

  18. Varicella zoster virus vasculopathy: clinical features and pathogenesis.

    PubMed

    Nagel, Maria A

    2014-04-01

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

  19. Varicella zoster virus vasculopathy: clinical features and pathogenesis

    PubMed Central

    Nagel, Maria A.

    2013-01-01

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

  20. Pigmented lesions of the nail unit: clinical and histopathologic features.

    PubMed

    Ruben, Beth S

    2010-09-01

    Probably the most common reason to perform biopsy of the nail unit is for the evaluation of irregular pigmentation, especially longitudinal melanonychia or pigmented bands. When narrow and solitary, these are usually the product of melanocytic activation/hypermelanosis, lentigines, or melanocytic nevi. Multiple pigmented bands are generally a benign finding, the result of melanocytic activation, as seen in racial pigmentation in darker-skinned patients, for example. In the context of an irregular, broad, heterogeneous or "streaky" band, the chief concern is the exclusion of subungual melanoma. Before assessing the histologic features of any such entities, it is important to understand the normal nail anatomy and melanocytic density of nail unit epithelium, as well as the type of specimen submitted, and whether it is adequate to undertake a proper histologic evaluation. The criteria for diagnosis and prognosis of melanoma of the nail unit are still evolving, and a variety of factors must be weighed in the balance to make a correct diagnosis. The importance of the clinical context cannot be overemphasized. There are also nonmelanocytic conditions to be considered that may produce worrisome nail discoloration, such as subungual hemorrhage, squamous cell carcinoma, and pigmented onychomycosis.

  1. 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

  2. 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.

  3. Radiological and clinical features of adult non-puerperal mastitis

    PubMed Central

    Tan, H; Li, R; Liu, H; Gu, Y; Shen, X

    2013-01-01

    Objective: To describe the radiological and clinical features of adult non-puerperal mastitis and to determine the most accurate method of preventing unnecessary surgical procedures. Methods: Clinical and imaging findings were retrospectively reviewed in 51 females with non-puerperal mastitis, which was confirmed by biopsy/surgical pathology. All 51 patients had pre-operative MRI; 45 patients also had sonograms and 25 also had mammograms, pre-operatively. Results: Of the 51 cases with non-puerperal mastitis, 94.1% (48/51) were confirmed as having acute or chronic inflammation, and the other 3 had plasma cell mastitis; areola papillaris inflammation was found in 39.2% (20/51) of the cases. Overall, 6 of the 25 cases that were examined with mammography and 2 of the 45 cases that were examined with sonography appeared normal, but all 51 lesions were positively identified on MRI. Asymmetrical density (12/25) on mammograms and solitary or separated/contiguous, clustered, hypoechoic mass-like lesions (31/45) on ultrasound were the most common signs of non-puerperal mastitis. On enhanced MRI, 90.2% (46/51) of patients showed non-mass-like enhanced lesions. Multiple regional enhancements in the pattern of distribution (32/46) and separated or contiguous, clustered, rim-like enhancements in the pattern of internal enhancement (29/46) were the most common manifestations in non-mass-like enhanced lesions. Of the 51 patients, mastitis Type 1 and Type 2 in the time–signal intensity curve were detected in 47.1% and 51.0% of the patients, respectively. The breast imaging reporting and data system categories with the highest number of patients were Category 0 (9/25) on mammography, Category 4a on sonography (18/45) and Category 4a on MRI (29/51). Conclusion: The findings from mammography and ultrasound are non-specific; therefore, using MR can be helpful in the diagnosis, especially in the presence of non-mass-like enhancements that are multiple, regional, separated, or

  4. Empirical Mode Decomposition Based Features for Diagnosis and Prognostics of Systems

    DTIC Science & Technology

    2008-04-01

    bearing fault diagnosis – their effectiveness and flexibilities. Journal of Vibration and Acoustics July 2001, ASME. 3. Staszewski, W. J. Structural...Empirical Mode Decomposition Based Features for Diagnosis and Prognostics of Systems by Hiralal Khatri, Kenneth Ranney, Kwok Tom, and Romeo...Laboratory Adelphi, MD 20783-1197 ARL-TR-4301 April 2008 Empirical Mode Decomposition Based Features for Diagnosis and Prognostics of Systems

  5. Cerebral vein thrombosis: clinical manifestation and diagnosis.

    PubMed

    Tanislav, Christian; Siekmann, Ralf; Sieweke, Nicole; Allendörfer, Jens; Pabst, Wolfgang; Kaps, Manfred; Stolz, Erwin

    2011-06-10

    Cerebral venous thrombosis (CVT) is a disease with a wide spectrum of symptoms and severity. In this study we analysed the predictive value of clinical signs and symptoms and the contribution of D-dimer measurements for diagnosis. We evaluated consecutive patients admitted with suspected CVT receiving non-invasive imaging. Symptoms and symptom combination as well as D-dimer levels were evaluated regarding their diagnostic value. 239 patients were included in this study, 170 (71%) were females. In 39 patients (16%) a CVT was found. For identifying a CVT patients underwent either a venous CT-angiography or MR-angiography or both. No combination of symptoms either alone or together with the D-dimer measurements had a sensitivity and positive predictive value as well as negative predictive value and specificity high enough to serve as red flag. D-dimer testing produced rates of 9% false positive and of 24% false negative results. For D-dimer values a Receiver Operating Characteristic curve (ROC) and the area under the curve (AUC = 0.921; CI: 0.864-0.977) were calculated. An increase of sensitivity above 0.9 results in a relevant decrease in specificity; a sensitivity of 0.9 matches a specificity value of 0.9. This corresponds to a D-dimer cut-off level of 0.16 μg/ml. Imaging as performed by venous CT-angiography or MR-angiography has a 1 to 2 in 10 chance to detect CVT when typical symptoms are present. D-dimer measurements are of limited clinical value because of false positive and negative results.

  6. [Clinical features of retinoblastoma in Tunisia].

    PubMed

    Chebbi, A; Bouguila, H; Boussaid, S; Ben Aleya, N; Zgholi, H; Malek, I; Zeghal, I; Nacef, L

    2014-06-01

    To report the relative frequency of presenting signs in Tunisian children with retinoblastoma and to evaluate their prognostic impact. A retrospective study was undertaken of 200 patients with retinoblastoma examined and treated between January 1993 and June 2009. There were 123 boys and 77 girls. For all cases, mean age at diagnosis was 29.8 months (range, 1 month to 9 years). There were 138 (69%) unilateral cases and 62 (31%) bilateral cases. Nineteen children (9.5%) had a family history of retinoblastoma. The most common signs were leukocoria (80%) and strabismus (28%) followed by proptosis. Orbital inflammation, hyphemia and phthisis are rare presenting findings in retinoblastoma. In our series, 26 children (13%) presented with extraocular retinoblastoma. Leukocoria and proptosis are significantly associated with a worse prognosis. The ability to recognize the presenting signs and symptoms of retinoblastoma can lead to earlier diagnosis and better prognosis. Copyright © 2014 Elsevier Masson SAS. All rights reserved.

  7. Radiological and clinical features of vein of Galen malformations.

    PubMed

    Chow, Maggie L; Cooke, Daniel L; Fullerton, Heather J; Amans, Matthew R; Narvid, Jared; Dowd, Christopher F; Higashida, Randall T; Halbach, Van V; Hetts, Steven W

    2015-06-01

    Vein of Galen malformations (VOGMs) are rare and complex congenital arteriovenous fistulas. The clinical and radiological features of VOGMs and their relation to clinical outcomes are not fully characterized. To examine the clinical and radiological features of VOGMs and the predictors of outcome in patients. We retrospectively reviewed the available imaging and medical records of all patients with VOGMs treated at the University of California, San Francisco between 1986 and 2013. Radiological and clinical features were identified. We applied the modified Rankin Scale to determine functional outcome by chart review. Predictors of outcome were assessed by χ(2) analyses. Forty-one cases were confirmed as VOGM. Most patients (78%) had been diagnosed with VOGM in the first year of life. Age at treatment was bimodally distributed, with predominantly urgent embolization at <10 days of age and elective embolization after 1 year of age. Patients commonly presented with hydrocephalus (65.9%) and congestive heart failure (61.0%). Mixed-type (31.7%) VOGM was more common in our cohort than purely mural (29.3%) or choroidal (26.8%) types. The most common feeding arteries were the choroidal and posterior cerebral arteries. Transarterial embolization with coils was the most common technique used to treat VOGMs at our institution. Functional outcome was normal or only mildly disabled in 50% of the cases at last follow-up (median=3 years, range=0-23 years). Younger age at first diagnosis, congestive heart failure, and seizures were predictive of adverse clinical outcome. The survival rate in our sample was 78.0% and complete thrombosis of the VOGM was achieved in 62.5% of patients. VOGMs continue to be challenging to treat and manage. Nonetheless, endovascular approaches to treatment are continuing to be refined and improved, with increasing success. The neurodevelopmental outcomes of affected children whose VOGMs are treated may be good in many cases. Published by the BMJ

  8. Barrett's oesophagus: epidemiology, diagnosis and clinical management.

    PubMed

    Whiteman, David C; Kendall, Bradley J

    2016-10-03

    Barrett's oesophagus is a condition characterised by partial replacement of the normal squamous epithelium of the lower oesophagus by a metaplastic columnar epithelium containing goblet cells (intestinal metaplasia). Barrett's oesophagus is important clinically because those afflicted are predisposed to oesophageal adenocarcinoma. Prevalence surveys suggest that up to 2% of the population may be affected; most will be unaware of their diagnosis. Risk factors include age, male sex, gastro-oesophageal acid reflux, central obesity and smoking. Helicobacter pylori infection confers a reduced risk of Barrett's oesophagus. Risks of cancer progression are lower than originally reported and are now estimated at 1-3 per 1000 patient-years for patients with non-dysplastic Barrett's oesophagus. Progression rates are higher for patients with long segment (≥ 3 cm) and dysplastic Barrett's oesophagus. Australian guidelines have been developed to aid practitioners in managing patients with Barrett's oesophagus and early oesophageal adenocarcinoma. While generalised population screening for Barrett's oesophagus is not recommended, endoscopic surveillance of patients with confirmed Barrett's oesophagus is recommended, with surveillance intervals dependent on segment length and presence of dysplasia. New techniques such as endoscopic mucosal resection and endoscopic radiofrequency ablation are now available to treat patients with dysplasia and early oesophageal adenocarcinoma. New screening and surveillance technologies are currently under investigation; these may prove cost-effective in identifying and managing patients in the community.

  9. Brain SPECT quantitation in clinical diagnosis

    SciTech Connect

    Hellman, R.S.

    1991-12-31

    Methods to quantitate SPECT data for clinical diagnosis should be chosen so that they take advantage of the lessons learned from PET data. This is particularly important because current SPECT high-resolution brain imaging systems now produce images that are similar in resolution to those generated by the last generation PET equipment (9 mm FWHM). These high-resolution SPECT systems make quantitation of SPECT more problematic than earlier. Methodology validated on low-resolution SPECT systems may no longer be valid for data obtained with the newer SPECT systems. For example, in patients with dementia, the ratio of parietal to cerebellar activity often was studied. However, with new instruments, the cerebellum appears very different: discrete regions are more apparent. The large cerebellar regions usually used with older instrumentation are of an inappropriate size for the new equipment. The normal range for any method of quantitation determined using older equipment probably changes for data obtained with new equipment. It is not surprising that Kim et al. in their simulations demonstrated that because of the finite resolution of imaging systems, the ability to measure pure function is limited, with {open_quotes}anatomy{close_quotes} and {open_quotes}function{close_quotes} coupled in a {open_quotes}complex nonlinear way{close_quotes}. 11 refs.

  10. Headache associated with sexual activity: demography, clinical features, and comorbidity.

    PubMed

    Frese, A; Eikermann, A; Frese, K; Schwaag, S; Husstedt, I-W; Evers, S

    2003-09-23

    S: To provide data on the demography, clinical features, and comorbidity of headache associated with sexual activity (HSA). Between 1996 and 2001, 51 patients with the diagnosis of HSA were questioned using a structured interview. The mean age at onset was 39.2 (+/-11.1) years. There was a clear male preponderance (2.9:1). The age at onset had two peaks, with a first peak between the 20th and 24th (n = 13) years of life and a second peak between the 35th and 44th (n = 20) years of life. Eleven patients had HSA type 1 (dull subtype), which gradually increased with increasing sexual excitement. The remaining (n = 40) had HSA type 2 (explosive subtype). The pain was predominantly bilateral (67%), and diffuse or occipital (76%). The quality was nearly equally distributed among dull, throbbing, and stabbing. HSA was not dependent on specific sexual habits and most often occurred during sexual activity with the usual partner (94%) and during masturbation (35%). There was a high comorbidity with migraine (25%), benign exertional headache (29%), and tension-type headache (45%). HSA types 1 and 2 did not significantly differ in demography, clinical features, or comorbidity, except for a higher probability of stopping the attack by breaking off sexual activity in HSA type 1. There were no cases with HSA type 3 (postural subtype). Mean age at onset, a male preponderance, a predominantly bilateral and occipital pain, and a high comorbidity with other primary headaches are in concordance with case reports in the literature. The authors found two peaks for the age at onset, however. There was no clinical evidence proving subtypes 1 and 2 to be distinct disorders. HSA types 1 and 2 may be different manifestations of the same disease rather than distinct entities.

  11. Antenatal diagnosis of chorioangioma of the placenta: MR features

    SciTech Connect

    Mochizuki, Takao; Imai, Michiko; Isoda, Haruo

    1996-05-01

    We report a case of chorioangioma of the placenta, in which MR findings were useful in establishing the antenatal diagnosis. Polyhydramnios and a placental tumor that was 5 cm in size were visualized. The tumor had relatively high signal intensities on proton density imaging and T2-weighted imaging and showed partially high intensity signal rims on T1-weighted imaging, especially when using a breath-holding technique. Magnetic resonance imaging has an important role in detection and diagnosis of these lesions, particularly the larger tumors, so that appropriate steps can be taken to deal with the complications that may accompany this tumor. 27 refs., 4 figs.

  12. Oral candidiasis: pathogenesis, clinical presentation, diagnosis and treatment strategies.

    PubMed

    Lalla, Rajesh V; Patton, Lauren L; Dongari-Bagtzoglou, Anna

    2013-04-01

    Oral candidiasis is a clinical fungal infection that is the most common opportunistic infection affecting the human oral cavity. This article reviews the pathogenesis, clinical presentations, diagnosis and treatmentstrategies for oral candidiasis.

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

    PubMed

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

    2015-01-01

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

  14. Zika virus infection: epidemiology, clinical manifestations and diagnosis.

    PubMed

    Calvet, Guilherme Amaral; Santos, Flavia Barreto Dos; Sequeira, Patricia Carvalho

    2016-10-01

    Zika virus (ZIKV) is an arbovirus previously believed to cause only a mild and self-limiting illness. Recently, it has emerged as a new public health threat that caused a large outbreak in French Polynesia in 2013-2014 and since 2015 an explosive outbreak in Brazil, with an increase in severe congenital malformations (microcephaly) and neurological complications, mainly Guillain-Barré syndrome (GBS). Since then, it has spread through the Americas. On 1 February 2016, the WHO declared the ZIKV epidemic in Brazil a Public Health Emergency of International Concern. We reviewed the epidemiology of ZIKV infection, clinical presentations and diagnosis. We highlighted the clinical features and nonvector borne transmission of the virus. Association between ZIKV infection and severe foetal outcomes, including microcephaly and other birth defects; increased rate of GBS and other neurological complications due to the ongoing ZIKV outbreak; increased evidence to date of ZIKV being the only arbovirus linked to sexual transmission; the challenge of ZIKV diagnosis; and the need for a specific point-of care test in epidemic scenarios. The findings illustrate the emergence of a viral disease with the identification of new associated disorders, new modes of transmission, including maternal-foetal and sexual transmission.

  15. Bowel obstruction: Differential diagnosis and clinical management

    SciTech Connect

    Welch, J.P.

    1987-01-01

    This book presents a practical guide to the diagnosis and management of obstruction, both mechanical and organic, of the large and small bowel. Obstruction is a common problem for surgeons, and this text emphasizes differential diagnosis and the use of all radiologic modalities. It presents the surgical and medical considerations involved with gallstones, bezoars, parasites, tumors, inflammation, trauma, intussusception, more.

  16. Hypergraph Based Feature Selection Technique for Medical Diagnosis.

    PubMed

    Somu, Nivethitha; Raman, M R Gauthama; Kirthivasan, Kannan; Sriram, V S Shankar

    2016-11-01

    The impact of internet and information systems across various domains have resulted in substantial generation of multidimensional datasets. The use of data mining and knowledge discovery techniques to extract the original information contained in the multidimensional datasets play a significant role in the exploitation of complete benefit provided by them. The presence of large number of features in the high dimensional datasets incurs high computational cost in terms of computing power and time. Hence, feature selection technique has been commonly used to build robust machine learning models to select a subset of relevant features which projects the maximal information content of the original dataset. In this paper, a novel Rough Set based K - Helly feature selection technique (RSKHT) which hybridize Rough Set Theory (RST) and K - Helly property of hypergraph representation had been designed to identify the optimal feature subset or reduct for medical diagnostic applications. Experiments carried out using the medical datasets from the UCI repository proves the dominance of the RSKHT over other feature selection techniques with respect to the reduct size, classification accuracy and time complexity. The performance of the RSKHT had been validated using WEKA tool, which shows that RSKHT had been computationally attractive and flexible over massive datasets.

  17. Diagnosis of neurosyphilis: appraisal of clinical caseload.

    PubMed Central

    Rodgers, C A; Murphy, S

    1997-01-01

    OBJECTIVES: To review the management of a cohort of patients with positive treponemal serology and psychiatric and/or neurological disorders. METHODS: A retrospective case note review of 172 patients with positive treponemal serology attending the Patrick Clement's Clinic, Central Middlesex Hospital between December 1990 and November 1995 was performed. RESULTS: 101 men and 71 women were new attenders diagnosed with positive treponemal serology. A neurological problem was identified in 27 patients (12 women and 15 men) with psychiatric and/or neurological disorders, of whom 20 (six women and 14 men) underwent investigation of the cerebrospinal fluid (CSF). With the medical history and results of CSF-RPR and FTA tests, white cell count (WCC), and total protein level in the CSF, 10 patients (eight men and two women) were diagnosed with likely neurosyphilis and 17 with neurological disorders not thought to be caused by syphilis. The clinical features in those having neurosyphilis were sensorineural hearing loss (n = 5) and tabes dorsalis (n = 5). In the seven patients diagnosed with neurosyphilis who underwent CSF examination one patient had a reactive CSF-FTA, elevated protein, and elevated WCC; one patient had a reactive CSF-FTA and RPR with elevated protein; the total protein only was elevated in three cases and the WCC elevated in one case. Nine of the 10 patients with neurosyphilis received adequate neurosyphilitic treatment; one patient was lost to follow up. CONCLUSIONS: The management of patients with positive treponemal serology and psychiatric and/or neurological disorders was consistent. Patients with suspected neurosyphilis or patients with neurological signs compatible with neurosyphilis (who did not undergo CSF examination) were treated with adequate neurosyphilitic therapy. PMID:9582475

  18. Cystinosis distal myopathy, novel clinical, pathological and genetic features.

    PubMed

    Cabrera-Serrano, Macarena; Junckerstorff, Reimar C; Alisheri, Ali; Pestronk, Alan; Laing, Nigel G; Weihl, Conrad C; Lamont, Phillipa J

    2017-09-01

    Nephropathic cystinosis is an autosomal recessive lysosomal disease in which cystine cannot exit the lysosome to complete its degradation in the cytoplasm, thus accumulating in tissues. Some patients develop a distal myopathy involving mainly hand muscles. Myopathology descriptions from only 5 patients are available in the literature. We present a comprehensive clinical, pathological and genetic description of 3 patients from 2 families with nephropathic cystinosis. Intrafamiliar variability was detected in one family in which one sibling developed a severe distal myopathy while the other sibling did not show any signs of skeletal muscle involvement. One of the patients was on treatment with Cysteamine for over 12 years but still developed the usual complications of nephropathic cystinosis in his twenties. Novel pathological findings consisting in sarcoplasmic deposits reactive for slow myosin were identified. Three previously known and one novel mutation are reported. Nephropathic cystinosis should be included in the differential diagnosis of distal myopathies in those with early renal failure. Novel clinical and pathological features are reported here contributing to the characterization of the muscle involvement in nephropathic cystinosis. Copyright © 2017 Elsevier B.V. All rights reserved.

  19. Substantia nigra echogenicity correlated with clinical features of Parkinson's disease.

    PubMed

    Zhou, Hai-Yan; Sun, Qian; Tan, Yu-Yan; Hu, Yun-Yun; Zhan, Wei-Wei; Li, Dun-Hui; Wang, Ying; Xiao, Qin; Liu, Jun; Chen, Sheng-Di

    2016-03-01

    Transcranial sonography can display structural alterations in the substantia nigra (SN) of patients with Parkinson's disease (PD), and is considered to be a potential useful tool for the diagnosis of PD. The aim of this study was to assess the correlation between SN echogenicity and clinical features in Chinese patients with PD. A total of 420 subjects including 290 patients with PD and 130 controls were recruited from the neurological clinic or the community. Transcranial sonographic evaluations of the SN were performed in all subjects, and motor and non-motor symptoms were thoroughly assessed by a series of rating scales in PD patients. Two hundred and one patients were successfully assessed by transcranial sonography. SN hyperechogenicity was found to be associated with male sex (p = 0.004), higher scores on the Unified Parkinson's Disease Rating Scale (UPDRS) part II (p = 0.001) and autonomic symptoms scores (p = 0.003). Moreover, regression analysis revealed that UPDRS part II scores (odds ratio = 1.141, p < 0.001) and gender (odds ratio = 2.409, p = 0.007) could be the independent predictors for SN hyperechogenicity; in addition, among all items of UPDRS part II, speech, dressing, hygiene, and turning in bed and adjusting bed clothes significantly correlated with SN hyperechogenicity. This is the first report suggesting the correlation between SN echogenicity and UPDRS part II, and we conclude that increased SN echogenicity might reflect more severe disease disability or poorer medical response. Copyright © 2016 Elsevier Ltd. All rights reserved.

  20. Diagnosis and clinical evaluation of iron overload.

    PubMed

    Kaltwasser, J P; Werner, E

    1989-04-01

    Diagnostic evaluation of the various forms of iron overload requires information about the total amount and distribution of iron stores. Direct information on the quantity of storage iron can be obtained only by its mobilization in response to repeated phlebotomy or after dilution of a labelled iron test dose in the total body iron pool. Both approaches are cumbersome and time-consuming and are suitable only for research purposes. Detailed information on the amount and distribution of tissue iron in iron overload can be obtained from biopsy specimens of the major iron storage organs such as the liver and bone marrow. However, the invasive nature of these procedures limits their clinical usefulness. Indirect measures, such as serum iron concentration, TIBC saturation, serum ferritin, chelate-induced urinary iron excretion or intestinal iron absorption, and ferrokinetic measurements may provide useful information on the amount of total body iron reserve. However, they all have important limitations in their diagnostic use for evaluating iron overload. The most suitable indirect storage iron index among these methods is the ferritin assay, which has a well established place in the diagnosis of iron overload and monitoring of the effect of therapy. Recent developments in physical methods such as CT, SQUID and NMR have significantly improved the applicability of these techniques for non-invasive measurement of liver iron. It is expected that quantitative measurement of hepatic iron stores will soon be integrated into the diagnostic procedures available by imaging techniques such as CT and NMR. In combination with screening parameters such as serum ferritin and TIBC saturation these new but expensive diagnostic tools may simplify and shorten the diagnostic process and may also be useful for monitoring the treatment of iron overload by phlebotomy or chelating drugs.

  1. Pedobarography in Diagnosis and Clinical Application

    PubMed Central

    Skopljak, Amira; Muftic, Mirsad; Sukalo, Aziz; Masic, Izet; Zunic, Lejla

    2014-01-01

    Introduction: Pedobarography as a new diagnostic tool enables measuring the pressure between the foot and the floor during dynamic loading. Dynamic analysis of the foot shows advantage over static analysis due to its capabilities for detecting high load points in certain diseases and in certain phases of walking. Pedobarography as a new method in the context of rehabilitation include wide range of clinical entities. Goal: To show the advantages of pedobarography as new diagnostic and rehabilitation method in prevention programs. Material and methods: A prospective study included 100 patients with diabetes mellitus type 2. Research was conducted in the Primary Health Care Center of the Sarajevo Canton and the Center for Physical Medicine and Rehabilitation. The test parameters were: Test of balance–symmetric load for the test, the number of comorbidity, clinical examination of foot deformity, test with 10 g monofilament, HbA1c. From the total sample 45 patients (Group I) were selected, aged 50-65 years, which underwent pedobarography (on the appliance Novel Inc., Munich with EMED™ platform) and robotic fabrication of individual orthopedic insoles, followed by control pedobarography. Plantar pressure was determined using standard pedobarography, computer recorded parameters: peak pressure (kPa), force (Ns), area (cm). Results: The average age of the respondents was 59.4±11.38 years; altered results on the balance test were present in 34% of patients; 61% of respondents have ≤2 comorbidity. In the total sample, the average number of foot deformity was 2.84. Flat feet have 66% of respondents, and valgus position 57%. The average HbA1c values were 7.783±1.58% (min.5–max.15.0). All subjects (45) after the first, and after the second measurement of peak pressure, have values above 200 kPa, or are in the designated zone of peak pressure that needs to be corrected. In a study was determined the correlation between the number of deformities and peak pressure, the

  2. Pediatric Traumatic Brain Injury: Characteristic Features, Diagnosis, and Management

    PubMed Central

    ARAKI, Takashi; YOKOTA, Hiroyuki; MORITA, Akio

    2017-01-01

    Traumatic brain injury (TBI) is the leading cause of death and disability in children. Pediatric TBI is associated with several distinctive characteristics that differ from adults and are attributable to age-related anatomical and physiological differences, pattern of injuries based on the physical ability of the child, and difficulty in neurological evaluation in children. Evidence suggests that children exhibit a specific pathological response to TBI with distinct accompanying neurological symptoms, and considerable efforts have been made to elucidate their pathophysiology. In addition, recent technical advances in diagnostic imaging of pediatric TBI has facilitated accurate diagnosis, appropriate treatment, prevention of complications, and helped predict long-term outcomes. Here a review of recent studies relevant to important issues in pediatric TBI is presented, and recent specific topics are also discussed. This review provides important updates on the pathophysiology, diagnosis, and age-appropriate acute management of pediatric TBI. PMID:28111406

  3. 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

  4. Analysis of complexity based EEG features for the diagnosis of Alzheimer's disease.

    PubMed

    Staudinger, Tyler; Polikar, Robi

    2011-01-01

    As life expectancy increases, particularly in the developed world, so does the prevalence of Alzheimer's Disease (AD). AD is a neurodegenerative disorder characterized by neurofibrillary plaques and tangles in the brain that leads to neuronal death and dementia. Early diagnosis of AD is still a major unresolved health concern: several biomarkers are being investigated, among which the electroencephalogram (EEG) provides the only option for an electrophysiological information. In this study, EEG signals obtained from 161 subjects--79 with AD, and 82 age-matched controls (CN)--are analyzed using several nonlinear signal complexity measures. These measures include: Higuchi fractal dimension (HFD), spectral entropy (SE), spectral centroid (SC), spectral roll-off (SR), and zero-crossing rate (ZCR). HFD is a quantitative measure of time series complexity derived from fractal theory. Among spectral measures, SE measures the level of disorder in the spectrum, SC is a measure of spectral shape, and SR is frequency sample below which a specified percent of the spectral magnitude distribution is contained. Lastly, ZCR is simply the rate at which the signal changes signs. A t-test was first applied to determine those features that provide significant differences between the groups. Those features were then used to train a neural network. The classification accuracies ranged from 60-66%, suggesting they contain some discriminatory information; however, not enough to be clinically useful alone. Combining these features and training a support vector machine (SVM) resulted in a diagnostic accuracy of 78%, indicating that these feature carry complementary information.

  5. Clinical features and long exercise test in Chinese patients with Andersen-Tawil syndrome.

    PubMed

    Song, Jie; Luo, Sushan; Cheng, Xin; Yue, Dongyue; Zhu, Wenhua; Lin, Jie; Huang, Jun; Lu, Jiahong; Zhao, Chongbo; Qiao, Kai

    2016-12-01

    Andersen-Tawil syndrome (ATS) is a rare multisystem channelopathy characterized by periodic paralysis, ventricular arrhythmias, and developmental dysmorphology. There are few reports concerning ATS in the Chinese population. We analyzed clinical features and evaluated the long exercise test as a tool for diagnosis of periodic paralysis in ATS. Direct sequencing of KCNJ2 was performed in 12 subjects from mainland China with suspected ATS. Clinical features, therapeutic responses, and long exercise tests (LET) were retrospectively analyzed. Twelve patients were genetically confirmed to have ATS. A small mandible and clinodactyly were demonstrated in all patients. Premature ventricular contractions were the most prevalent form of cardiac arrhythmia. The LET revealed an early amplitude decrement. Chinese ATS patients shared some common clinical features with reported subjects in other countries. An early amplitude decrement in LET may be useful for diagnosis of ATS. Muscle Nerve 54: 1059-1063, 2016. © 2016 Wiley Periodicals, Inc.

  6. Presentation of Hypoparathyroidism: Etiologies and Clinical Features.

    PubMed

    Shoback, Dolores M; Bilezikian, John P; Costa, Aline G; Dempster, David; Dralle, Henning; Khan, Aliya A; Peacock, Munro; Raffaelli, Marco; Silva, Barbara C; Thakker, Rajesh V; Vokes, Tamara; Bouillon, Roger

    2016-06-01

    Understanding the etiology, diagnosis, and symptoms of hypoparathyroidism may help to improve quality of life and long-term disease outcomes. This paper summarizes the results of the findings and recommendations of the Working Group on Presentation of Hypoparathyroidism. Experts convened in Florence, Italy, in May 2015 and evaluated the literature and recent data on the presentation and long-term outcomes of patients with hypoparathyroidism. The most frequent etiology is surgical removal or loss of viability of parathyroid glands. Despite precautions and expertise, about 20-30% of patients develop transient and 1-7% develop permanent postsurgical hypoparathyroidism after total thyroidectomy. Autoimmune destruction is the main reason for nonsurgical hypoparathyroidism. Severe magnesium deficiency is an uncommon but correctable cause of hypoparathyroidism. Several genetic etiologies can result in the loss of parathyroid function or action causing isolated hypoparathyroidism or a complex syndrome with other symptoms apart from those of hypoparathyroidism or pseudohypoparathyroidism. Neuromuscular signs or symptoms due to hypocalcemia are the main characteristics of the disease. Hyperphosphatemia can contribute to major long-term complications such as ectopic calcifications in the kidney, brain, eye, or vasculature. Bone turnover is decreased, and bone mass is increased. Reduced quality of life and higher risk of renal stones, renal calcifications, and renal failure are seen. The risk of seizures and silent or symptomatic calcifications of basal ganglia is also increased. Increased awareness of the etiology and presentation of the disease and new research efforts addressing specific questions formulated during the meeting should improve the diagnosis, care, and long-term outcome for patients.

  7. Factors Associated with Clinical and Topographical Features of Laryngeal Tuberculosis

    PubMed Central

    Reis, João Gustavo Corrêa; Reis, Clarissa Souza Mota; da Costa, Daniel César Silva; Lucena, Márcia Mendonça; Schubach, Armando de Oliveira; Oliveira, Raquel de Vasconcellos Carvalhaes; Rolla, Valéria Cavalcanti; Conceição-Silva, Fátima; Valete-Rosalino, Cláudia Maria

    2016-01-01

    Introduction Laryngeal tuberculosis (LTB) is the most frequent granulomatous disease of the larynx and represents less than 2% of extrapulmonary TB cases. There are no pathognomonic clinical and endoscopic features of this disease and studies on LTB that can assist in its diagnostic characterization are lacking. Objective To identify factors associated with clinical and topographical features of LTB. Method a retrospective cross-sectional study was conducted from the medical records of 36 patients with confirmed LTB diagnosis. Results Dysphonia and cough were the main symptoms presented by patients and the true vocal folds the most frequently affected site. The average of the duration of the disease evolution was significantly higher in patients with dysphonia than in patients without this symptom. We observed association between dysphonia and true vocal fold lesions and between odynophagia and lesions in the epiglottis, arytenoids and aryepiglottic folds. Odynophagia was more frequent in individuals with lesions in four or more laryngeal sites. Weight loss equal or above 10% of the body weight was more frequent in patients with odynophagia as first symptom and in patients with ulcerated lesion. Dyspnea on exertion was more frequent in individuals with more extensive laryngeal lesions. The percentage of smokers with lesions in four or more laryngeal sites was greater than that found in non-smokers. Laryngeal tissue fragment bacilloscopy and culture examinations were less positive than sputum ones. Conclusions Smoking appears to be associated with the development of more extensive LTB lesions, and LTB with dyspnea on exertion and odynophagia with consequent impairment of nutritional status. We emphasize the need for histopathologic confirmation, once positive sputum bacteriological examinations seem not to necessarily reflect laryngeal involvement. PMID:27077734

  8. Idiopathic Hypersomnia: Clinical Features and Response to Treatment

    PubMed Central

    Ali, Mohsin; Auger, R. Robert; Slocumb, Nancy L.; Morgenthaler, Timothy I.

    2009-01-01

    Objective: A recent American Academy of Sleep Medicine publication identified a need for research regarding idiopathic hypersomnia. We describe various clinical and polysomnographic features of patients with idiopathic hypersomnia, with an emphasis on response to pharmacotherapy. Methods: A retrospective review of our database initially identified 997 patients, utilizing “idiopathic hypersomnia,” “hypersomnia NOS,” and “primary hypersomnia” as keywords. The charts of eligible patients were examined in detail, and data were abstracted and analyzed. Response to treatment was graded utilizing an internally developed scale. Results: Eighty-five patients were ultimately identified (65% female). Median (interquartile range) ages of onset and diagnosis were 19.6 (15.5) and 33.7 (15.5), respectively. During a median follow-up duration of 2.4 (4.7) years, 65% of patients demonstrated a “complete response” to pharmacotherapy as assessed by the authors' grading schema. Methylphenidate was most commonly used as a first-line agent prior to December 1998, but subsequently, modafinil became the most common first drug. At the last recorded follow-up visit, 92% of patients were on monotherapy, with greater representation of methylphenidate versus modafinil (51% vs. 32%). Among these patients, methylphenidate produced a higher percentage of “complete” or “partial” responses than modafinil, although statistical significance was not reached (38/40 [ 95%] vs 22/25 [88%], respectively, p = 0.291). Conclusions: The majority of patients with idiopathic hypersomnia respond well to treatment. Methylphenidate is chosen more often than modafinil as final monotherapy in the treatment of idiopathic hypersomnia, despite the fact that it is less commonly used initially. Further prospective comparisons of medications should be explored. Citation: Ali M; Auger RR; Slocumb NL; Morgenthaler TI. Idiopathic hypersomnia: clinical features and response to treatment. J Clin Sleep

  9. Dental Pulp: Correspondences and Contradictions between Clinical and Histological Diagnosis

    PubMed Central

    Giuroiu, Cristian Levente; Căruntu, Irina-Draga; Lozneanu, Ludmila; Melian, Anca; Vataman, Maria; Andrian, Sorin

    2015-01-01

    Dental pulp represents a specialized connective tissue enclosed by dentin and enamel, the most highly mineralized tissues of the body. Consequently, the direct examination as well as pathological evaluation of dental pulp is difficult. Within this anatomical context, our study aimed to evaluate the correlation between dental pulp lesions and clinical diagnosis. Pulpectomies were performed for 54 patients with acute and chronic irreversible pulpitides and for 5 patients (control group) with orthodontic extractions. The morphological features were semiquantitatively assessed by specific score values. The clinical and morphological correspondence was noted for 35 cases (68.62%), whereas inconsistency was recorded for 16 cases (31.38%). The results of the statistical analysis revealed the correlations between clinically and pathologically diagnosed acute/chronic pulpitides. No significant differences were established between the score values for inflammatory infiltrate intensity, collagen depositions, calcifications and necrosis, and acute, respectively chronic pulpitides. We also obtained significant differences between acute pulpitides and inflammatory infiltrate and calcifications and between chronic pulpitides and inflammatory infiltrate, collagen deposition, and calcifications. On the basis of the predominant pathological aspects, namely, acute and chronic pulpitis, we consider that the classification schemes can be simplified by adequately reducing the number of clinical entities. PMID:26078972

  10. [Clinical aspects and diagnosis of pleural fibromas].

    PubMed

    Smati, B; Djilani, H; Boudaya, M S; Ghrib, B S; Mestiri, T; Mezni, F; Bouacha, H; Kilani, T

    2005-12-01

    Pleural fibromas are rare malignant or benign tumors requiring pathology study for certain diagnosis. From January 1985 to January 2001, 7 patients underwent surgery in our unit for pleural fibroma: 4 females and 3 males, mean age 60 years. The inaugural symptoms were chest pain (3 patients), dyspnea (2 patients), joint pain in a patient with Pierre-Marie pneumonic hypertrophic osteo-arthropathy, and acute hypoglycemia. Radiological investigations were decisive in orienting the diagnosis (chest X-ray, ultrasound, computed tomography and MRI). Surgical resection and pathological study of the surgical specimen is required to confirm the diagnosis. Patients should be carefully followed due to the risk of malignant recurrence.

  11. Cachexia: clinical features when inflammation drives malnutrition.

    PubMed

    Laviano, Alessandro; Koverech, Angela; Mari, Alessia

    2015-11-01

    Cachexia is a clinically relevant syndrome which impacts on quality of life, morbidity and mortality of patients suffering from acute and chronic diseases. The hallmark of cachexia is muscle loss, which is triggered by disease-associated inflammatory response. Cachexia is a continuum and therefore a staging system is needed. Initially, a three-stage system (i.e. pre-cachexia, cachexia and refractory cachexia) was proposed. More recent evidence supports the use of a five-stage classification system, based on patient's BMI and severity of weight loss, to better predict clinical outcome. Also, large clinical trials in cancer patients demonstrated that cachexia emerging during chemotherapy has greater influence on survival than weight loss at baseline. Therefore, becoming widely accepted is the importance of routinely monitoring patients' nutritional status to detect early changes and diagnose cachexia in its early phases. Although cachexia is associated with the presence of anabolic resistance, it has been shown that sustained yet physiological hyperaminoacidaemia, as well as the use of specific nutrients, is able to overcome impaired protein synthesis and revert catabolism. More importantly, clinical evidence demonstrates that preservation of nutritional status during chemotherapy or improvement of body weight after weight loss is associated with longer survival in cancer patients.

  12. Metabolic myopathies: clinical features and diagnostic approach.

    PubMed

    Smith, Edward C; El-Gharbawy, Areeg; Koeberl, Dwight D

    2011-05-01

    The rheumatologist is frequently called on to evaluate patients with complaints of myalgia, muscle cramps, and fatigue. The evaluation of these patients presents a diagnostic challenge given the nonspecific and intermittent nature of their complaints, often leading to inappropriate diagnostic testing. When these symptoms are associated with physical exertion, a metabolic myopathy should be suspected Although inflammatory myopathies may present with similar features, such a pattern should prompt a thorough evaluation for an underlying metabolic myopathy. This review discusses the most common causes of metabolic myopathies and reviews the current diagnostic options available to the clinician.

  13. Using Comprehensive Feature Lists to Bias Medical Diagnosis

    ERIC Educational Resources Information Center

    Kulatunga-Moruzi, Chan; Brooks, Lee R.; Norman, Geoffrey R.

    2004-01-01

    Clinicians routinely report fewer features in a case than they subsequently agree are present. The authors report studies that assess the effect of considering a more comprehensive description than physicians usually offer. These comprehensive descriptions were generated from photographs of dermatology and internal medicine and were complete and…

  14. Using Comprehensive Feature Lists to Bias Medical Diagnosis

    ERIC Educational Resources Information Center

    Kulatunga-Moruzi, Chan; Brooks, Lee R.; Norman, Geoffrey R.

    2004-01-01

    Clinicians routinely report fewer features in a case than they subsequently agree are present. The authors report studies that assess the effect of considering a more comprehensive description than physicians usually offer. These comprehensive descriptions were generated from photographs of dermatology and internal medicine and were complete and…

  15. Polyarteritis nodosa presenting with clinical and radiologic features suggestive of polymyositis.

    PubMed

    Haroon, Muhammad; Bermingham, Niamh; Keohane, Catherine; Harney, Sinead

    2012-04-01

    We report a patient who presented with clinical and MRI findings suggestive of polymyositis but, in whom, muscle biopsy disclosed a strikingly different diagnosis. A 65-year-old woman presented with 3-week history of bilateral proximal muscle pain and weakness. Laboratory investigations showed markedly elevated inflammatory markers and mildly elevated muscle enzymes. MRI scans of lower limbs showed features suggestive of polymyositis. However, muscle biopsy showed features of a polyarteritis-type vasculitis affecting an intramuscular blood vessel. Our reports highlight the critical role of muscle biopsy in establishing the correct diagnosis in patients with suspected myositis.

  16. Clinical and radiologic features of pulmonary edema.

    PubMed

    Gluecker, T; Capasso, P; Schnyder, P; Gudinchet, F; Schaller, M D; Revelly, J P; Chiolero, R; Vock, P; Wicky, S

    1999-01-01

    Pulmonary edema may be classified as increased hydrostatic pressure edema, permeability edema with diffuse alveolar damage (DAD), permeability edema without DAD, or mixed edema. Pulmonary edema has variable manifestations. Postobstructive pulmonary edema typically manifests radiologically as septal lines, peribronchial cuffing, and, in more severe cases, central alveolar edema. Pulmonary edema with chronic pulmonary embolism manifests as sharply demarcated areas of increased ground-glass attenuation. Pulmonary edema with veno-occlusive disease manifests as large pulmonary arteries, diffuse interstitial edema with numerous Kerley lines, peribronchial cuffing, and a dilated right ventricle. Stage 1 near drowning pulmonary edema manifests as Kerley lines, peribronchial cuffing, and patchy, perihilar alveolar areas of airspace consolidation; stage 2 and 3 lesions are radiologically nonspecific. Pulmonary edema following administration of cytokines demonstrates bilateral, symmetric interstitial edema with thickened septal lines. High-altitude pulmonary edema usually manifests as central interstitial edema associated with peribronchial cuffing, ill-defined vessels, and patchy airspace consolidation. Neurogenic pulmonary edema manifests as bilateral, rather homogeneous airspace consolidations that predominate at the apices in about 50% of cases. Reperfusion pulmonary edema usually demonstrates heterogeneous airspace consolidations that predominate in the areas distal to the recanalized vessels. Postreduction pulmonary edema manifests as mild airspace consolidation involving the ipsilateral lung, whereas pulmonary edema due to air embolism initially demonstrates interstitial edema followed by bilateral, peripheral alveolar areas of increased opacity that predominate at the lung bases. Familiarity with the spectrum of radiologic findings in pulmonary edema from various causes will often help narrow the differential diagnosis.

  17. Clinical and anatomic features of acardiac twins.

    PubMed

    Chanoufi, Mohamed Bédis; Ben Temime, Riadh; Masmoudi, Aïda; Ounaïssa, Kamilia; Jebnoun, Sami; Abid, Walid; Nsiri, Rafika; Chelli, Héla; Khrouf, Naïma; Siala-Gaïgi, Soumaya

    2004-01-01

    To report 6 cases of acardiac twins, and to investigate prognostic factors that would lead to survival of the normal twin. During a 9-year period from 1993 to 2001, 6 cases of acardiac twins out of 109,000 deliveries at the Maternity Center, Tunis, Tunisia were studied. Detailed inspection, X-rays, ultrasound and autopsies were performed. Prenatal diagnosis was made in only 1 case at 33 weeks of gestation. Rudimentary cardiac tissue was observed in 2 of the 6 perfused twins, and the cephalic pole was less developed than other parts of the body. Severe agenesis or hypoplasia of the thoracoabdominal organs was commonly observed. Many limb malformations were observed, with arms the most affected. One of the pump twins was stillborn, 3 died between days 1 and 3 from respiratory distress, and 2 developed cardiac failure after birth and were treated with diuretics and digoxin, which led to a favorable outcome in only 1. The ratio of the weight of the acardiac to pump twin (TWR) ranged from 50 to 142%. The findings of this study indicate that acardia can be diagnosed by means of ultrasound in front of a monochorial twin pregnancy when one of the fetuses is deformed and has no cardiac activity. Heart failure and polyhydramnios, as well as a TWR greater than 50% are prognostic factors for the pump twin.

  18. Prevalence rates and clinical implications of bipolar disorder "with mixed features" as defined by DSM-5.

    PubMed

    Shim, In Hee; Woo, Young Sup; Bahk, Won-Myong

    2015-03-01

    We investigated the increase in the prevalence of bipolar disorder with mixed features following the replacement of DSM-IV-TR criteria with DSM-5 criteria. Additionally, we examined the clinical implications of the use of "with mixed features" as a specifier with bipolar disorder. We retrospectively reviewed medical charts from 2003 to 2013. A total of 331 patients diagnosed with bipolar disorder using the DSM-IV TR were enrolled and categorized into four groups: manic/hypomanic with mixed features, manic/hypomanic without mixed features, depressed with mixed features, and depressed without mixed features. These classifications were made in accordance with the DSM-5 definition of bipolar disorder "with mixed features." Changes in the prevalence, demographic and clinical characteristics were compared among the groups. The prevalence rates of mixed features were significantly different when using the DSM-5 criteria vs. the DSM-IV-TR criteria. Patients with mixed features had a younger age of onset, younger age at hospitalization, more frequent hospitalizations for mixed episodes, and greater suicide risk compared with patients without mixed features. Retrospective study may have resulted in under diagnosis of mixed states. An approximately three-fold greater risk for mixed features was observed in patients with bipolar disorder when using the DSM-5 criteria than when using the DSM-IV-TR criteria. The additional patients may represent patients with sub-syndromal mixed features and could indicate that patients with mixed features are underdiagnosed. Copyright © 2014 Elsevier B.V. All rights reserved.

  19. Cortical auditory disorders: clinical and psychoacoustic features.

    PubMed Central

    Mendez, M F; Geehan, G R

    1988-01-01

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

  20. Schizoid and narcissistic features in personality structure diagnosis.

    PubMed

    Geiser, F; Lieberz, K

    2000-01-01

    This study examines the relationship between schizoid and narcissistic personality features. While the schizoid personality disorder seems widely accepted as a diagnostic category, the utility of the narcissistic personality disorder construct is under discussion. We regard schizoidism as a primary, structural disturbance of interaction with the world, whereas narcissism appears as a secondary phenomenon of self-organization and self-regulation. This study focuses on the question, whether these features are correlated or interact with each other in personality structure. A standardized narcissism inventory is being applied to a group of schizoid and nonschizoid patients. Only 1 of 18 narcissism scales differentiates significantly between these patient groups. By cluster analysis, the group of schizoid patients is divided into two subgroups characterized by their higher or lower narcissism scores. These are contiguous to existing descriptions of an active/fighting and a passive/evading schizoid subtype. 'Schizoid' and 'narcissistic' personality features can be regarded as distinct, but complementary personality conditions. Copyright 2000 S. Karger AG, Basel

  1. A Clinical Approach to the Diagnosis of Traumatic Encephalopathy Syndrome: A Review.

    PubMed

    Reams, Nicole; Eckner, James T; Almeida, Andrea A; Aagesen, Andrea L; Giordani, Bruno; Paulson, Hank; Lorincz, Matthew T; Kutcher, Jeffrey S

    2016-06-01

    Chronic traumatic encephalopathy (CTE) refers to pathologic changes that have been found in some individuals with a history of repetitive traumatic impact to the head (hereinafter referred to as head trauma). These changes cannot be assessed during the clinical evaluation of a living patient. The neuropathologic features, taxonomy, history, role of biomarkers in diagnosis, and existing criteria of CTE are reviewed. Previous criteria have been proposed to approach the living patient; however, a unified, specific approach is needed for the practicing clinician. We propose a new diagnostic construct for the clinical syndrome associated with repetitive exposure to head trauma: traumatic encephalopathy syndrome. This clinical paradigm will provide the framework for a diagnosis of probable, possible, and unlikely traumatic encephalopathy syndrome, with included discussion regarding the minimum exposure, nature of the clinical course, and additional clinical features needed for diagnosis. While prospective longitudinal studies are ongoing to further elucidate the association of exposure to head trauma, clinical features, and the development of pathologic changes, a corresponding clinical construct for diagnosis is necessary.

  2. Pseudotumour cerebri in children: Aetiology, clinical features, and progression.

    PubMed

    Mosquera Gorostidi, A; Iridoy Zulet, M; Azcona Ganuza, G; Gembero Esarte, E; Yoldi Petri, M E; Aguilera Albesa, S

    2017-01-09

    The definition, associated aetiologies, diagnosis, and treatment of idiopathic intracranial hypertension, or pseudotumour cerebri (PTC), are constantly being revised in the paediatric population. Our study included children younger than 15 years old with PTC and attended at a reference hospital in the past 12 years. We analysed the clinical and epidemiological features of our sample and the diagnostic and treatment approaches. PTC was defined as presence of intracranial hypertension (CSF opening pressure>25cmH2O) and absence of space-occupying lesions in brain MR images. A total of 12 children with PTC were included; mean age was 10 years and 90% were girls. Weight was normal in all patients. Eighty-two percent of the patients had symptoms: headache (66%), diplopia (8%), and visual loss (8%). All of them displayed papilloedema (17% unilaterally). Lumbar puncture (LP) provided the diagnosis in all cases and 91% showed no relevant MRI findings. A potential cause of PTC was identified in 5 cases: pharmacological treatment in 2 and infection (Mycoplasma pneumoniae [M. pneumoniae]) in 3. Ninety-one per cent of the patients received treatment: 75% underwent several LPs and 42% received acetazolamide and/or prednisone. Outcomes were favourable in all cases. The incidence of PTC was estimated at approximately 1 case per 100 000 children/years, in line with data reported by previous studies. Overweight was not found to be a risk factor for PTC in this population. M. pneumoniae infection may trigger PTC and cause recurrences at later stages. The absence of symptoms seems to be independent from the degree of intracranial hypertension. Acetazolamide treatment is effective in most cases, and it represents a viable alternative to repeated LP. Copyright © 2016 Sociedad Española de Neurología. Publicado por Elsevier España, S.L.U. All rights reserved.

  3. Clinical and laboratory features of Nocardia nova.

    PubMed Central

    Wallace, R J; Brown, B A; Tsukamura, M; Brown, J M; Onyi, G O

    1991-01-01

    Recent studies have shown that Nocardia asteroides isolates have five major antibiotic resistance patterns; one of these patterns identifies isolates of Nocardia farcinica. In the current study, we investigated a second pattern characterized by susceptibility to ampicillin and erythromycin. This pattern was seen in 17% of 223 clinical isolates identified by standard techniques as N. asteroides and associated with diseases typical for nocardiae. Biochemically, isolates with this drug pattern were relatively homogeneous and identical to the type strain and previous descriptions of Nocardia nova. The strains studied were unique among nocardiae in having both alpha- and beta-esterase activity (85 and 95%, respectively). However, the arylsulfatase activity at 14 days (75%) and antimicrobial susceptibility patterns, including susceptibility to erythromycin (100%), were the only routinely available methods that would separate N. nova strains from other members of N. asteroides. N. asteroides should be considered a complex because current clinical identification schemes include isolates of N. farcinica and N. nova and may well include additional species. This is the first detailed description of N. nova as a pathogen in humans. PMID:1774244

  4. Computer-Based Image Analysis for Plus Disease Diagnosis in Retinopathy of Prematurity: Performance of the "i-ROP" System and Image Features Associated With Expert Diagnosis.

    PubMed

    Ataer-Cansizoglu, Esra; Bolon-Canedo, Veronica; Campbell, J Peter; Bozkurt, Alican; Erdogmus, Deniz; Kalpathy-Cramer, Jayashree; Patel, Samir; Jonas, Karyn; Chan, R V Paul; Ostmo, Susan; Chiang, Michael F

    2015-11-01

    We developed and evaluated the performance of a novel computer-based image analysis system for grading plus disease in retinopathy of prematurity (ROP), and identified the image features, shapes, and sizes that best correlate with expert diagnosis. A dataset of 77 wide-angle retinal images from infants screened for ROP was collected. A reference standard diagnosis was determined for each image by combining image grading from 3 experts with the clinical diagnosis from ophthalmoscopic examination. Manually segmented images were cropped into a range of shapes and sizes, and a computer algorithm was developed to extract tortuosity and dilation features from arteries and veins. Each feature was fed into our system to identify the set of characteristics that yielded the highest-performing system compared to the reference standard, which we refer to as the "i-ROP" system. Among the tested crop shapes, sizes, and measured features, point-based measurements of arterial and venous tortuosity (combined), and a large circular cropped image (with radius 6 times the disc diameter), provided the highest diagnostic accuracy. The i-ROP system achieved 95% accuracy for classifying preplus and plus disease compared to the reference standard. This was comparable to the performance of the 3 individual experts (96%, 94%, 92%), and significantly higher than the mean performance of 31 nonexperts (81%). This comprehensive analysis of computer-based plus disease suggests that it may be feasible to develop a fully-automated system based on wide-angle retinal images that performs comparably to expert graders at three-level plus disease discrimination. Computer-based image analysis, using objective and quantitative retinal vascular features, has potential to complement clinical ROP diagnosis by ophthalmologists.

  5. Computer-Based Image Analysis for Plus Disease Diagnosis in Retinopathy of Prematurity: Performance of the “i-ROP” System and Image Features Associated With Expert Diagnosis

    PubMed Central

    Ataer-Cansizoglu, Esra; Bolon-Canedo, Veronica; Campbell, J. Peter; Bozkurt, Alican; Erdogmus, Deniz; Kalpathy-Cramer, Jayashree; Patel, Samir; Jonas, Karyn; Chan, R. V. Paul; Ostmo, Susan; Chiang, Michael F.

    2015-01-01

    Purpose We developed and evaluated the performance of a novel computer-based image analysis system for grading plus disease in retinopathy of prematurity (ROP), and identified the image features, shapes, and sizes that best correlate with expert diagnosis. Methods A dataset of 77 wide-angle retinal images from infants screened for ROP was collected. A reference standard diagnosis was determined for each image by combining image grading from 3 experts with the clinical diagnosis from ophthalmoscopic examination. Manually segmented images were cropped into a range of shapes and sizes, and a computer algorithm was developed to extract tortuosity and dilation features from arteries and veins. Each feature was fed into our system to identify the set of characteristics that yielded the highest-performing system compared to the reference standard, which we refer to as the “i-ROP” system. Results Among the tested crop shapes, sizes, and measured features, point-based measurements of arterial and venous tortuosity (combined), and a large circular cropped image (with radius 6 times the disc diameter), provided the highest diagnostic accuracy. The i-ROP system achieved 95% accuracy for classifying preplus and plus disease compared to the reference standard. This was comparable to the performance of the 3 individual experts (96%, 94%, 92%), and significantly higher than the mean performance of 31 nonexperts (81%). Conclusions This comprehensive analysis of computer-based plus disease suggests that it may be feasible to develop a fully-automated system based on wide-angle retinal images that performs comparably to expert graders at three-level plus disease discrimination. Translational Relevance Computer-based image analysis, using objective and quantitative retinal vascular features, has potential to complement clinical ROP diagnosis by ophthalmologists. PMID:26644965

  6. [Lyme disease in patients with multiple sclerosis: clinical, diagnostic and therapeutic features].

    PubMed

    Baranova, N S; Spirin, N N; Fadeeva, O A; Shipova, E G; Stepanov, I O

    2012-01-01

    Lyme disease is one of the most frequent infections in the Russian Federation. In patients with multiple sclerosis, the Borrelia infection may act as a trigger in some cases and also worsens the clinical course of multiple sclerosis. One hundred patients with definite multiple sclerosis were examined including 19 patients with the combination of multiple sclerosis and Lyme disease. The difficulties of diagnosis, clinical features and treatment of Lyme disease in patients with multiple sclerosis are discussed.

  7. The "mental feature" in mental illness: difficulties that this reality poses for diagnosis and classification.

    PubMed

    Casarotti, Humberto L

    2013-01-01

    Four points are considered in this article. In the first place, it is argued that the "settings" of psychiatric care express the need to respond to the degree of decrease in personal freedom of the patient. Then, the issue of how "the mental feature" of the mental pathology has been recognized and categorized since the 18th century is examined, pointing out the difficulties involved in considering the mental nature of the subject of psychiatry. In the third place, the issue of how current systems of diagnosis and classification are posed regarding this reality is briefly looked at. Finally, the characteristics of a working hypothesis that allows organizing consistent clinical facts providing a heuristic perspective are analyzed.

  8. [Clinical features of malignant hyperthermia crisis].

    PubMed

    Cornet, C; Moeller, R; Laxenaire, M C

    1989-01-01

    Malignant hyperthermia (MH) is a pharmacogenetic disorder. It is classically described as a hypermetabolic state triggered by halogenated anaesthetics and/or depolarizing muscle relaxants. In fact, since Denborough and Lovel's case, it has been shown that MH has a great number of clinical forms. The overwhelming picture of muscular hypercatabolism with fulminating hyperthermia and generalized rigidity is becoming rare. A better knowledge of the first symptoms explains in part the better prognosis: masseter spasm after suxamethonium, an increase in expired CO2 concentration, unexplained tachycardia, ventricular arrhythmias. The use of dantrolene reduced the mortality of MH. The different types of clinical manifestations are due to genetic differences, the concentration of the anaesthetic agent, and the length of time of exposure to the drug. The severity of the episode is linked to environmental factors such as stress, physical exercise, ambient temperature, concomitant use of other drugs. Masseter spasm after suxamethonium is specific for MH, but not pathognomonic. It occurs in 1% of cases in children when using halothane with suxamethonium. However, in those patients who displayed such a spasm, more than 50% had a positive contracture test. Masseter spasm is often associated with severe rhabdomyolysis in patients with muscle dystrophy, especially Duchenne's dystrophy. In the latter case, major cardiac problems may occur at the time of anaesthetic induction. Even if there are no other signs of MH, all patients who have had a masseter spasm must be considered as open to doubt, and should be further explored. MH is often difficult to diagnose in medium severity types.(ABSTRACT TRUNCATED AT 250 WORDS)

  9. Intussusception in adults: Clinical characteristics, diagnosis and operative strategies

    PubMed Central

    Yakan, Savas; Calıskan, Cemil; Makay, Ozer; Deneclı, Ali Galip; Korkut, Mustafa Ali

    2009-01-01

    AIM: To evaluate 20 adults with intussusception and to clarify the cause, clinical features, diagnosis, and management of this uncommon entity. METHODS: A retrospective review of patients aged > 18 years with a diagnosis of intestinal intussusception between 2000 and 2008. Patients with rectal prolapse, prolapse of or around an ostomy and gastroenterostomy intussusception were excluded. RESULTS: There were 20 cases of adult intussusception. Mean age was 47.7 years. Abdominal pain, nausea, and vomiting were the most common symptoms. The majority of intussusceptions were in the small intestine (85%). There were three (15%) cases of colonic intussusception. Enteric intussusception consisted of five jejunojejunal cases, nine ileoileal, and four cases of ileocecal invagination. Among enteric intussusceptions, 14 were secondary to a benign process, and in one of these, the malignant cause was secondary to metastatic lung adenocarcinoma. All colonic lesions were malignant. All cases were treated surgically. CONCLUSION: Adult intussusception is an unusual and challenging condition and is a preoperative diagnostic problem. Treatment usually requires resection of the involved bowel segment. Reduction can be attempted in small-bowel intussusception if the segment involved is viable or malignancy is not suspected; however, a more careful approach is recommended in colonic intussusception because of a significantly higher coexistence of malignancy. PMID:19399931

  10. Intussusception in adults: clinical characteristics, diagnosis and operative strategies.

    PubMed

    Yakan, Savas; Caliskan, Cemil; Makay, Ozer; Denecli, Ali-Galip; Korkut, Mustafa-Ali

    2009-04-28

    To evaluate 20 adults with intussusception and to clarify the cause, clinical features, diagnosis, and management of this uncommon entity. A retrospective review of patients aged > 18 years with a diagnosis of intestinal intussusception between 2000 and 2008. Patients with rectal prolapse, prolapse of or around an ostomy and gastroenterostomy intussusception were excluded. There were 20 cases of adult intussusception. Mean age was 47.7 years. Abdominal pain, nausea, and vomiting were the most common symptoms. The majority of intussusceptions were in the small intestine (85%). There were three (15%) cases of colonic intussusception. Enteric intussusception consisted of five jejunojejunal cases, nine ileoileal, and four cases of ileocecal invagination. Among enteric intussusceptions, 14 were secondary to a benign process, and in one of these, the malignant cause was secondary to metastatic lung adenocarcinoma. All colonic lesions were malignant. All cases were treated surgically. Adult intussusception is an unusual and challenging condition and is a preoperative diagnostic problem. Treatment usually requires resection of the involved bowel segment. Reduction can be attempted in small-bowel intussusception if the segment involved is viable or malignancy is not suspected; however, a more careful approach is recommended in colonic intussusception because of a significantly higher coexistence of malignancy.

  11. 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…

  12. 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…

  13. A deep feature fusion methodology for breast cancer diagnosis demonstrated on three imaging modality datasets.

    PubMed

    Antropova, Natalia; Huynh, Benjamin Q; Giger, Maryellen L

    2017-07-06

    Deep learning methods for radiomics/computer-aided diagnosis (CADx) are often prohibited by small datasets, long computation time, and the need for extensive image preprocessing. We aim to develop a breast CADx methodology that addresses the aforementioned issues by exploiting the efficiency of pre-trained convolutional neural networks (CNNs) and using pre-existing handcrafted CADx features. We present a methodology that extracts and pools low- to mid-level features using a pretrained CNN and fuses them with handcrafted radiomic features computed using conventional CADx methods. Our methodology is tested on three different clinical imaging modalities (dynamic contrast enhanced-MRI [690 cases], full-field digital mammography [245 cases], and ultrasound [1125 cases]). From ROC analysis, our fusion-based method demonstrates, on all three imaging modalities, statistically significant improvements in terms of AUC as compared to previous breast cancer CADx methods in the task of distinguishing between malignant and benign lesions. (DCE-MRI [AUC = 0.89 (se = 0.01)], FFDM [AUC = 0.86 (se = 0.01)], and ultrasound [AUC = 0.90 (se = 0.01)]). We proposed a novel breast CADx methodology that can be used to more effectively characterize breast lesions in comparison to existing methods. Furthermore, our proposed methodology is computationally efficient and circumvents the need for image preprocessing. © 2017 American Association of Physicists in Medicine.

  14. Ultrasonographic features of adrenal gland lesions in dogs can aid in diagnosis.

    PubMed

    Pagani, Elena; Tursi, Massimiliano; Lorenzi, Chiara; Tarducci, Alberto; Bruno, Barbara; Borgogno Mondino, Enrico Corrado; Zanatta, Renato

    2016-11-28

    Ultrasonography to visualize adrenal gland lesions and evaluate incidentally discovered adrenal masses in dogs has become more reliable with advances in imaging techniques. However, correlations between sonographic and histopathological changes have been elusive. The goal of our study was to investigate which ultrasound features of adrenal gland abnormalities could aid in discriminating between benign and malignant lesions. To this end, we compared diagnosis based on ultrasound appearance and histological findings and evaluated ultrasound criteria for predicting malignancy. Clinical records of 119 dogs that had undergone ultrasound adrenal gland and histological examination were reviewed. Of these, 50 dogs had normal adrenal glands whereas 69 showed pathological ones. Lesions based on histology were classified as cortical adrenal hyperplasia (n = 67), adenocarcinoma (n = 17), pheochromocytoma (n = 10), metastases (n = 7), adrenal adenoma (n = 4), and adrenalitis (n = 4). Ultrasonographic examination showed high specificity (100%) but low sensitivity (63.7%) for identifying the adrenal lesions, which improved with increasing lesion size. Analysis of ultrasonographic predictive parameters showed a significant association between lesion size and malignant tumors. All adrenal gland lesions >20 mm in diameter were histologically confirmed as malignant neoplasms (pheochromocytoma and adenocarcinoma). Vascular invasion was a specific but not sensitive predictor of malignancy. As nodular shape was associated with benign lesions and irregular enlargement with malignant ones, this parameter could be used as diagnostic tool. Bilaterality of adrenal lesions was a useful ultrasonographic criterion for predicting benign lesions, as cortical hyperplasia. Abnormal appearance of structural features on ultrasound images (e.g., adrenal gland lesion size, shape, laterality, and echotexture) may aid in diagnosis, but these features alone were not pathognomic

  15. Pathophysiology, diagnosis, and clinical assessment of asthma in the adult.

    PubMed

    Killeen, Kathryn; Skora, Elizabeth

    2013-03-01

    Asthma is a chronic inflammatory disorder that is characterized by 3 distinct responses in the airways: inflammation, hyperresponsiveness, and remodeling. Clinical diagnosis of asthma is often based on the presence of symptoms, such as cough, wheeze, breathlessness, and chest tightness; but the presence of these symptoms is not exclusive to asthma, and clinical correlation with spirometry and other diagnostic testing is essential. Once a diagnosis of asthma is established, the focus of care should be toward control of the disease. This article discusses the pathophysiology, diagnosis, and clinical assessment of asthma in the adult patient population.

  16. Cytogenetics and clinical features of pediatric myelodysplastic syndrome in Japan.

    PubMed

    Moriwaki, Koichi; Manabe, Atsushi; Taketani, Takeshi; Kikuchi, Akira; Nakahata, Tatsutoshi; Hayashi, Yasuhide

    2014-11-01

    We analyzed the cytogenetics and clinical features of pediatric myelodysplastic syndrome (MDS) in Japan. Data on patients (<16 years) diagnosed with MDS from 1990 to 2000 were retrospectively collected from pediatric hematologists in 234 institutions. Chromosome analysis was successfully performed in 255 of 277 MDS patients. The numbers of patients with refractory anemia, refractory anemia with ringed sideroblasts, refractory anemia with excess of blasts (RAEB), refractory anemia with excess of blasts in transformation (RAEBt), chronic myelomonocytic leukemia, and juvenile myelomonocytic leukemia were 67 (24%), 51 (18%), 51 (18%), 20 (7%), and 65 (23%), respectively. The other 23 patients (8%) could not be classified specifically. The distribution of childhood MDS in Japan according to the French-American-British subclassification was similar to that in other countries. However, we identified a higher incidence of therapy-related cases. As for relationship between cytogenetics and prognoses, abnormal karyotypes were related to poorer prognoses than normal karyotype (P < 0.01). However, patients with trisomy 8 had prognoses comparable to those with normal karyotypes. Complex karyotypes were associated with poorer prognoses among RAEB and RAEBt patients. In conclusion, prognosis of pediatric MDS is related to cytogenetics. A more precise diagnosis and classification system is needed for childhood MDS.

  17. [Intermittent priapism as a clinical feature of lumbar spinal stenosis].

    PubMed

    Rojas, J I; Zurrú-Ganen, M C; Romano, M; Patrucco, L; Cristiano, E

    Lumbar spinal stenosis is defined as a narrowing of the neural canal and foramina that result in compression of the lumbosacral nerve roots or cauda equina. Patients with lumbar spinal stenosis may present a variety of signs and symptoms. One such syndrome is neurogenic intermittent claudication, characterized by radicular symptoms exacerbated by walking or standing and relieved by rest. Infrequently, lumbar spinal stenosis produces a cauda equina compression, characterized by intermittent urinary or fecal incontinence, impotence and in rare cases priapism. A 50 year-aged male, presented with spontaneous intermittent priapism and few months later weakness, numbness and pain of his legs provoked by bipedestation or physical exertion that completely disappeared by sitting or lying down. A computed tomographic scan showed a lumbar canal narrowing of L4 through L5. A diagnosis of neurogenic intermittent claudication with dysfunction of the cauda equina roots secondary to the presence of lumbar spinal stenosis was carried out. The symptoms completely resolved after descompressive lumbar laminectomy of L4 and L5. Causal interpretation of neurogenic intermittent claudication still remains obscure. An inadequate blood supply provoked by increased intra-raquid pressure among the roots may act as a dynamic factor. This mechanism could cause stagnant anoxia during the exercise resulting in clinical symptoms. Lumbar spinal stenosis should be kept in mind when autonomic features appear.

  18. Unsupervised learning based feature extraction for differential diagnosis of neurodegenerative diseases: A case study on early-stage diagnosis of Parkinson disease.

    PubMed

    Singh, Gurpreet; Samavedham, Lakshminarayanan

    2015-12-30

    The development of MRI based methods could prove extremely valuable for identification of reliable biomarkers to aid diagnosis of neurodegenerative diseases (NDs). A great deal of current research has been aimed at identification biomarkers for both diagnosis at early stage and evaluation of the progression of NDs. We present here a novel synergetic paradigm integrating Kohonen self organizing map (KSOM) and least squares support vector machine (LS-SVM) for individual-level clinical diagnosis of NDs. Feature are extracted in an unsupervised manner using KSOM on preprocessed brain MRIs. Thereafter, these features are fed as input to LSSVM for subject classification. The applicability of the proposed methodology has been demonstrated using 831 T1-weighted MRIs obtained from Parkinson's Progression Markers Initiative (PPMI) database. We have achieved classification accuracy of up to 99% for differential diagnosis of Parkinson disease with confidence interval of 99.9%. The potential for translation of similar research findings to clinical application is greatly dependent upon two factors (1) accuracy of subject classification achieved and (2) size of the dataset used. Here, we report very high accuracy achieved on one of the largest MRI datasets using multivariate analysis tools. In this paper, we describe a methodology that has the potential to be translated into first-line diagnostic tool for NDs. We also demonstrate the applicability of this methodology for diagnosing PD subjects in early stages of the disease, i.e., subjects in age of 31-60 years. Copyright © 2015 Elsevier B.V. All rights reserved.

  19. [Clinical Features and Treatment of Hashimoto Encephalopathy].

    PubMed

    Maki, Yoshimitsu; Takashima, Hiroshi

    2016-09-01

    Hashimoto encephalopathy (HE) is characterized by heterogeneous neurological symptoms. HE is diagnosed based on three criteria-the presence of antithyroid antibodies, neurological symptoms from the cerebrum and/or cerebellum, and a positive response to immunotherapy. We clinically analyzed 18 patients (3 men, 15 women; age range, 38-81years) diagnosed with HE in our hospital from May 2013 to January 2016. Eleven patients showed sensory abnormalities such as strong pain, deep muscle pain, dysesthesia, paresthesia, or neuralgia. Surprisingly, the majority of the pain was distributed in a manner that was not explainable anatomically. Seventeen patients showed motor disturbances, such as weakness, paresis of extremities, or dexterity movement disorder, and eight patients showed give-way weakness, which is disruption of continuous muscle contraction. Other symptoms indicative of brain-related anomalies such as tremor, dystonia, involuntary movements, cerebellar ataxia, parkinsonism, memory loss, and chronic fatigue were also seen. In most patients, such motor, sensory, or higher brain functions were markedly improved with immunosuppressive therapies such as prednisolone, azathioprine, or immunoadsorption therapy. Although give-way weakness and anatomically unexplainable pain are typically considered as being psychogenic in origin, the presence of these symptoms is indicative of HE. HE exhibits diffuse involvement of the entire brain and thus, these symptoms are explainable. We propose that physicians should not diagnose somatoform disorders without first excluding autoimmune encephalopathy.

  20. Pediatric multiple sclerosis: Clinical features and outcome.

    PubMed

    Waldman, Amy; Ness, Jayne; Pohl, Daniela; Simone, Isabella Laura; Anlar, Banu; Amato, Maria Pia; Ghezzi, Angelo

    2016-08-30

    Multiple sclerosis (MS) in children manifests with a relapsing-remitting MS (RRMS) disease course. Acute relapses consist of new neurologic deficits persisting greater than 24 hours, in the absence of intercurrent illness, and occur with a higher frequency early in the disease as compared to adult-onset RRMS. Most pediatric patients with MS recover well from these early relapses, and cumulative physical disability is rare in the first 10 years of disease. Brainstem attacks, poor recovery from a single attack, and a higher frequency of attacks portend a greater likelihood of future disability. Although prospective pediatric-onset MS cohorts have been established in recent years, there remains very limited prospective data detailing the longer-term clinical outcome of pediatric-onset MS into adulthood. Whether the advent of MS therapies, and the largely off-label access to such therapies in pediatric MS, has improved prognosis is unknown. MS onset during the key formative academic years, concurrent with active cognitive maturation, is an important determinant of long-term outcome, and is discussed in detail in another article in this supplement. Finally, increasing recognition of pediatric MS worldwide, recent launch of phase III trials for new agents in the pediatric MS population, and the clear imperative to more fully appreciate health-related quality of life in pediatric MS through adulthood highlight the need for standardized, validated, and robust outcome measures.

  1. [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.

  2. Clinical features of Lassa fever in Liberia.

    PubMed

    Frame, J D

    1989-01-01

    Two hundred thirteen cases of Lassa fever (LF) were diagnosed by virus isolation and seroconversion at Curran Lutheran Hospital in Zorzor, Liberia, between July 1980 and April 1986. An additional 40 cases of probable and presumptive LF were diagnosed on the basis of single serum samples. Of the 246 assessable patients, 23 (9%) died; no data were available for seven patients. Five (16%) of 32 pregnant women and three (43%) of seven immediately postpartum women died. Four (26%) of 15 children less than 12 years died. Case-fatality rates among 125 nonpregnant women and 67 men were approximately 6%. Among 150 patients studied in detail, the case-fatality rate was also 9%. Seventeen (11%) of these patients had abnormal bleeding; of these, six (35%) died. Most platelet counts were at low normal to mildly depressed levels. However, serial counts in seven patients suggested a decrease on about days 10-12 of illness. The symptoms of LF in Liberia are those of a viral syndrome. Edema, sometimes marked, is noted in seriously ill patients. A great variation in mortality and incidence of abnormal bleeding is recorded in reported series of LF; it appears that hemorrhage is a marker for cases with a high mortality. The incidence and severity of hearing defects in LF outbreaks vary. Elucidation of a number of clinical problems in LF requires more information on how strain differences affect the pattern of illness.

  3. [Pathogenesis and clinical features of polypous rhinosinusitis].

    PubMed

    Trofimenko, S L

    2010-01-01

    The paper presents recommendations of the current European and Russian documents concerning pathogenesis of polypous rhinosinusitis (International Consensus Conference on Nasal Polyposis (2006), European documents EAACI - EP3OS (2007), and Summit of the Russian Society of Rhinologists "Nasal polyposis and inflammation" (2009)). The bilateral polypous process in the nasal cavity is considered to be a "special form of rhinosinusitis" in which bacterial superantigens or fungal infection induce chronic eosinophilic inflammation. Researchers of the ENT Department, Rostov State Medical University, undertook analysis of the results of long-term comprehensive examination of patients with polypous rhinosinusitis that included clinical, bacteriological, histomorphological, and allergological studies as well as evaluation of local and systemic immunity. The data obtained allowed to describe one of the forms of polypous rhinosinusitis as chronic infection-dependent allergic rhinosinusitis with the manifestation of all four types of allergic reactions, formation of the autoimmune component, and development of persistent immune inflammation leading to remodeling of endonasal mucosa. In all these cases, the process progressed parallel to the development of combined secondary immune deficiency (SID). A hypothetical scheme of pathogenesis of chronic polypous allergic rhinosinusitis is proposed.

  4. Clinical features and pathophysiology of belching disorders.

    PubMed

    Sun, Xiaomin; Ke, Meiyun; Wang, Zhifeng

    2015-01-01

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

  5. Compound feature selection and parameter optimization of ELM for fault diagnosis of rolling element bearings.

    PubMed

    Luo, Meng; Li, Chaoshun; Zhang, Xiaoyuan; Li, Ruhai; An, Xueli

    2016-11-01

    This paper proposes a hybrid system named as HGSA-ELM for fault diagnosis of rolling element bearings, in which real-valued gravitational search algorithm (RGSA) is employed to optimize the input weights and bias of ELM, and the binary-valued of GSA (BGSA) is used to select important features from a compound feature set. Three types fault features, namely time and frequency features, energy features and singular value features, are extracted to compose the compound feature set by applying ensemble empirical mode decomposition (EEMD). For fault diagnosis of a typical rolling element bearing system with 56 working condition, comparative experiments were designed to evaluate the proposed method. And results show that HGSA-ELM achieves significant high classification accuracy compared with its original version and methods in literatures.

  6. Compressive sensing-based feature extraction for bearing fault diagnosis using a heuristic neural network

    NASA Astrophysics Data System (ADS)

    Yuan, Haiying; Wang, Xiuyu; Sun, Xun; Ju, Zijian

    2017-06-01

    Bearing fault diagnosis collects massive amounts of vibration data about a rotating machinery system, whose fault classification largely depends on feature extraction. Features reflecting bearing work states are directly extracted using time-frequency analysis of vibration signals, which leads to high dimensional feature data. To address the problem of feature dimension reduction, a compressive sensing-based feature extraction algorithm is developed to construct a concise fault feature set. Next, a heuristic PSO-BP neural network, whose learning process perfectly combines particle swarm optimization and the Levenberg-Marquardt algorithm, is constructed for fault classification. Numerical simulation experiments are conducted on four datasets sampled under different severity levels and load conditions, which verify that the proposed fault diagnosis method achieves efficient feature extraction and high classification accuracy.

  7. Modified Bat Algorithm for Feature Selection with the Wisconsin Diagnosis Breast Cancer (WDBC) Dataset

    PubMed

    Jeyasingh, Suganthi; Veluchamy, Malathi

    2017-05-01

    Early diagnosis of breast cancer is essential to save lives of patients. Usually, medical datasets include a large variety of data that can lead to confusion during diagnosis. The Knowledge Discovery on Database (KDD) process helps to improve efficiency. It requires elimination of inappropriate and repeated data from the dataset before final diagnosis. This can be done using any of the feature selection algorithms available in data mining. Feature selection is considered as a vital step to increase the classification accuracy. This paper proposes a Modified Bat Algorithm (MBA) for feature selection to eliminate irrelevant features from an original dataset. The Bat algorithm was modified using simple random sampling to select the random instances from the dataset. Ranking was with the global best features to recognize the predominant features available in the dataset. The selected features are used to train a Random Forest (RF) classification algorithm. The MBA feature selection algorithm enhanced the classification accuracy of RF in identifying the occurrence of breast cancer. The Wisconsin Diagnosis Breast Cancer Dataset (WDBC) was used for estimating the performance analysis of the proposed MBA feature selection algorithm. The proposed algorithm achieved better performance in terms of Kappa statistic, Mathew’s Correlation Coefficient, Precision, F-measure, Recall, Mean Absolute Error (MAE), Root Mean Square Error (RMSE), Relative Absolute Error (RAE) and Root Relative Squared Error (RRSE). Creative Commons Attribution License

  8. Clinical Presentation, Diagnosis, and Radiological Findings of Neoplastic Meningitis.

    PubMed

    Rigakos, Georgios; Liakou, Chrysoula I; Felipe, Naillid; Orkoulas-Razis, Dennis; Razis, Evangelia

    2017-01-01

    Neoplastic meningitis is a complication of solid and hematological malignancies. It consists of the spread of malignant cells to the leptomeninges and subarachnoid space and their dissemination within the cerebrospinal fluid. A literature review was conducted to summarize the clinical presentation, differential diagnosis, laboratory values, and imaging findings of neoplastic meningitis. Neoplastic meningitis is an event in the course of cancer with a variable clinical presentation and a wide differential diagnosis. In general, characteristic findings on gadolinium-enhanced magnetic resonance imaging and the presence of malignant cells in the cerebrospinal fluid remain the cornerstones of diagnosis. However, both modalities do not always confirm the diagnosis of neoplastic meningitis despite a typical clinical picture. Clinicians treating patients with cancer should be aware of the possibility of neoplastic meningitis, especially when multilevel neurological symptoms are present. Neoplastic meningitis can be an elusive diagnosis, so clinician awareness is important so that this malignant manifestation is recognized in a timely manner.

  9. [Clinical features of accessory parotid gland tumors].

    PubMed

    Iguchi, Hiroyoshi; Wada, Tadashi; Yamamoto, Hidefumi; Yamada, Kei; Matsushita, Naoki; Okamoto, Sachimi; Teranishi, Yuichi; Koda, Yuki; Kosugi, Yuki; Yamane, Hideo

    2013-12-01

    Accessory parotid gland tumors are relatively rare; hence, adequately detailed clinical analyses of these tumors are difficult to perform at a single institution. In this report, we describe the findings for 65 patients [29 men, 36 women; median age, 51 (9-81) years] with accessory parotid gland tumors, consisting of 4 cases documented by us and 61 cases previously reported by other Japanese authors. Approximately 50% of the patients were treated in an otolaryngology department, while the remaining patients were treated in plastic surgery, oral surgery, or dermatology departments. In 4 patients, the results of preoperative fine-needle aspiration cytology indicated that the tumor was benign; however, the postoperative histopathology results revealed malignant tumors. The frequencies of malignant and benign tumors were 44.6% (n = 29) and 55.4% (n = 36), respectively. Mucoepidermoid carcinoma and pleomorphic adenoma were the most frequent types of malignant and benign accessory parotid gland tumors, respectively. Among the various surgical methods that were used, such as direct cheek and intraoral incisions, a standard parotidectomy incision was the most preferred treatment approach for these tumors. Recently, an endoscopic approach has also been found to yield satisfactory results. An optimal approach should be selected after evaluating the advantages and disadvantages of these methods. No definite guidelines are available regarding the choice of elective neck dissection and postoperative radiation therapy for malignant accessory parotid gland tumors. Although tumor resection (plus elective neck dissection) and postoperative radiation therapy have been frequently performed for various kinds of malignant accessory parotid gland tumors to date, additional studies are needed regarding the criteria for selecting elective neck dissection and postoperative radiation therapy. Since the malignancy rate for accessory parotid gland tumors is higher than that for parotid gland

  10. Polymicrobial Infective Endocarditis: Clinical Features and Prognosis

    PubMed Central

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

    2015-01-01

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

  11. Wilson disease: pathogenesis and clinical considerations in diagnosis and treatment.

    PubMed

    Rosencrantz, Richard; Schilsky, Michael

    2011-08-01

    Nearly a century after Dr. Samuel Alexander Kinnier Wilson composed his doctoral thesis on the pathologic findings of "lenticular degeneration" in the brain associated with cirrhosis of the liver we know that the underlying molecular basis for this autosomal recessive inherited disorder that now bears his name is mutation of a copper transporting ATPase, ATP7B, an intracellular copper transporter mainly expressed in hepatocytes. Loss of ATP7B function is the basis for reduced hepatic biliary copper excretion and reduced incorporation of copper into ceruloplasmin. During the intervening years, there was recognition of the clinical signs, histologic, biochemical features, and mutation analysis of ATP7B that characterize and enable diagnosis of this disorder. These include the presence of signs of liver or neurologic disease and detection of Kayser-Fleischer rings, low ceruloplasmin, elevated urine and hepatic copper, and associated histologic changes in the liver. Medical therapies and liver transplantation can effectively treat patients with this once uniformly fatal disorder. The earlier detection of the disease led to the initiation of treatment to prevent disease progression and reverse pathologic findings if present, and family screening to detect the disorder in first-degree relatives is warranted. Gene therapy and hepatocyte cell transplantation for Wilson disease has only been tested in animal models but represent future areas for study. Despite all the advances we still have to consider the diagnosis of Wilson disease to test patients for this disorder and properly establish the diagnosis before committing to life-long treatment. © Thieme Medical Publishers.

  12. Skin Cancer Diagnosis With Reflectance Confocal Microscopy: Reproducibility of Feature Recognition and Accuracy of Diagnosis.

    PubMed

    Farnetani, Francesca; Scope, Alon; Braun, Ralph P; Gonzalez, Salvador; Guitera, Pascale; Malvehy, Josep; Manfredini, Marco; Marghoob, Ashfaq A; Moscarella, Elvira; Oliviero, Margaret; Puig, Susana; Rabinovitz, Harold S; Stanganelli, Ignazio; Longo, Caterina; Malagoli, Carlotta; Vinceti, Marco; Pellacani, Giovanni

    2015-10-01

    Reflectance confocal microscopy (RCM) studies have been performed to identify criteria for diagnosis of skin neoplasms. However, RCM-based diagnosis is operator dependent. Hence, reproducibility of RCM criteria needs to be tested. To test interobserver reproducibility of recognition of previously published RCM descriptors and accuracy of RCM-based skin cancer diagnosis. Observational retrospective web-based study of a set of RCM images collected at a tertiary academic medical center. Nine dermatologists (6 of whom had ≥3 years of RCM experience) from 6 countries evaluated an RCM study set from 100 biopsy-proven lesions, including 55 melanocytic nevi, 20 melanomas, 15 basal cell carcinomas, 7 solar lentigines or seborrheic keratoses, and 3 actinic keratoses. Between June 15, 2010, and October 21, 2010, participanting dermatologists, blinded to histopathological diagnosis, evaluated 3 RCM mosaic images per lesion for the presence of predefined RCM descriptors. The main outcome was identification of RCM descriptors with fair to good interrater agreement (κ statistic, ≥0.3) and independent correlation with malignant vs benign diagnosis on discriminant analysis. Additional measures included sensitivity and specificity for diagnosis of malignant vs benign for each evaluator, for majority diagnosis (rendered by ≥5 of 9 evaluators), and for experienced vs recent RCM users. Eight RCM descriptors showed fair to good reproducibility and were independently associated with a specific diagnosis. Of these, the presence of pagetoid cells, atypical cells at the dermal-epidermal junction, and irregular epidermal architecture were associated with melanoma. Aspecific junctional pattern, basaloid cords, and ulceration were associated with basal cell carcinomas. Ringed junctional pattern and dermal nests were associated with nevi. The mean sensitivity for the group of evaluators was 88.9% (range, 82.9%-100%), and the mean specificity was 79.3% (range, 69.2%-90.8%). Majority

  13. Clinical Features of Newly Diagnosed Cytomegalovirus Retinitis in Northern Thailand

    PubMed Central

    Ausayakhun, Somsanguan; Keenan, Jeremy D; Ausayakhun, Sakarin; Jirawison, Choeng; Khouri, Claire M; Skalet, Alison H; Heiden, David; Holland, Gary N; Margolis, Todd P

    2011-01-01

    Purpose To characterize the clinical manifestations of cytomegalovirus (CMV) retinitis in northern Thailand. Design Prospective, observational cross-sectional study. Methods We recorded characteristics of 52 consecutive patients newly diagnosed with CMV retinitis at a tertiary university-based medical center in northern Thailand. Indirect ophthalmoscopy by experienced ophthalmologists was supplemented with fundus photography to determine the proportion of eyes with various clinical features of CMV retinitis. Results Of the 52 patients with CMV retinitis, 55.8% were female. All were HIV-positive. The vast majority (90.4%) had started antiretroviral therapy. CMV retinitis was bilateral in 46.2% of patients. Bilateral visual acuity worse than 20/60 was observed in 23.1% of patients. Of 76 eyes with CMV retinitis, 61.8% had zone I disease and 21.6% had lesions involving the fovea. Lesions larger than 25% of the retinal area were observed in 57.5% of affected eyes. CMV retinitis lesions commonly had marked or severe border opacity (47.4% of eyes). Vitreous haze was often present (46.1% of eyes). Visual impairment was more common in eyes with larger retinitis lesions. Retinitis lesion size, used as a proxy for duration of disease, was associated with fulminant appearance (OR 1.24 [1.01 – 1.51]), and marked or severe border opacity (OR 1.36 [1.11 – 1.67]). Based on lesion size, retinitis preceded antiretroviral treatment in each patient. Conclusions Patients presenting to a tertiary medical center in northern Thailand have advanced CMV retinitis, possibly due to delayed diagnosis. Earlier screening and treatment of CMV retinitis may limit progression of disease and prevent visual impairment in this population. PMID:22265148

  14. Age-related distance esotropia: Clinical features and therapeutic outcomes.

    PubMed

    Gómez de Liaño Sánchez, P; Olavarri González, G; Merino Sanz, P; Escribano Villafruela, J C

    2016-12-01

    To describe the clinical characteristics and surgical outcomes of a group of patients with age-related distance esotropia (ARDE). A retrospective study was conducted on a consecutive case series of 16 adult patients diagnosed with ARDE between 2008 and 2015. The clinical features evaluated included mean age and gender, primary position deviations at distance and near, measured in prism dioptres (pd), treatment offered in each case, and post-surgical deviations. Ductions and versions were full, with no evidence of lateral rectus paresis. None of these patients had any obvious underlying neurological disorder, such as, high myopia or thyroid disease. A good result is considered to be the disappearance of diplopia in all positions of gaze. A total of 16 patients (11 females [68.8%]) were identified. The mean age at diagnosis was 78.19±6.77 years. The mean initial esodeviation was 2.25±3.08 pd at near (-4 to +8 pd) and 9.5±4.18 pd at distance (2 to 18 pd). Treatment was not necessary in 5 cases because the symptoms were intermittent or well-tolerated. Of the 11 patients with symptoms, one was corrected with an external base therapeutic prism. Botulinum toxin was administered in another patient, without satisfactory results. Unilateral medial rectus muscle recession was performed on one patient, and unilateral lateral rectus plication on 7 patients, indicating prisms before surgery. One patient refused surgery despite continuous diplopia in far vision. After a mean follow-up of 16.5 months, all operated patients were asymptomatic. Not all patients with ARDE require treatment, as the tolerance to diplopia varies from one subject to another. Both medial rectus weakening and lateral rectus strengthening provides excellent results. Crown Copyright © 2016. Publicado por Elsevier España, S.L.U. All rights reserved.

  15. [Clinical and morphological features of different types of Castleman's disease].

    PubMed

    Melikyan, A L; Egorova, E K; Kovrigina, А М; Subortseva, I N; Gilyazitdinova, E A; Karagyulyan, S R; Silaev, M A; Gemdzhian, E G; Savchenko, V G

    2015-01-01

    To study the clinical features of Castleman's disease (CD) and to elaborate therapeutic approaches in its different morphological types. The clinical and laboratory data were studied in 59 prospectively examined patients and 17 retrospectively examined ones with CD who had been treated at the Outpatient Department, Hematology Research Centre, in 1996 to 2014. There were a total of 37 men (median age, 36 years) and 39 women (median age, 34 years). The diagnosis was established from the results of histological and immunohistochemical examinations of removed lymph nodes (LN) or tumors in all the cases. A hyaline vascular variant (HVV) with local LN involvement was diagnosed in 38 (50%) patients; a plasma cell variant (PCV) was in 38 (50%); among the latter, 17 (22%) patients were found to have local involvement and 21 (28%) had generalized (multicentriC) involvement (multicentric Castleman's diseases (MCD)). Five (24%) patients with MCD were established to be infected with human herpesvirus type 8 (HHV-8). HVV was more frequently diagnosed in women (4%) than in men (29%); PCV was equally common in both men (47%) and women (53%); MCD was statistically significantly more frequently encountered in men (86%) than in women (14%) (p=0.05). The basic involvement areas in local HVV and PCV were peripheral (38%), mediastinal (29), retroperitoneal (18%), abdominal (9%), and small pelvic (6%) LNs. HVV and local PCV were benign and these were cured by surgical removal of LNs involved in the pathological process. MCD took its aggressive course with obvious constitutional symptoms, generalized lymphadenopathy, hepatosplenomegaly, hypergammaglobulinemia, autoimmune hemolysis, thrombocytopenia, and involvement of extranodal foci in the pathological process. MCD transformation to plasmablastic lymphoma was observed in 4 of the 5 HHV8-positive patients and followed by a poor outcome. The prognosis of untreated MCD was unfavorable. In a number of cases prednisolone monotherapy worsened

  16. Metastases detected at the time of diagnosis of primary pediatric extremity osteosarcoma at diagnosis: imaging features.

    PubMed

    Kaste, S C; Pratt, C B; Cain, A M; Jones-Wallace, D J; Rao, B N

    1999-10-15

    The authors performed a retrospective study to estimate the incidence rate of metastatic disease at the time of diagnosis of extremity osteosarcoma (OS), to characterize its pattern of presentation, and to identify factors predictive of survival within a cohort of patients with pulmonary metastatic disease at diagnosis. From the institutional solid tumor database, the authors identified all patients diagnosed with extremity OS since CT became available at the study institution (1977). The authors recorded patient demographics, the site of primary disease, the histologic subtype of OS, and the presence of metastases at diagnosis. In those patients with pulmonary metastases at diagnosis, the presence of calcifications, the primary tumor volume, the number of pulmonary lobes with disease, and the number of pulmonary nodules were recorded. Of an evaluable population of 215 patients, 32 (15%) had bone or pulmonary metastases at diagnosis, of whom original imaging from 28 patients was available for review. Osteoblastic histology correlated with lung metastases at diagnosis (P = 0.049). One of the 32 patients had a solitary bone metastasis without lung metastases. Four of 28 patients (14%) with original imaging available had calcifications within the pulmonary nodules. Both the number of nodules and the number of lobes involved were found to be significant predictors of survival (P = 0.0009 and P = 0. 04, respectively); multiple nodules were bilateral in 61% of patients. The rate of incidence of computed tomography detected pulmonary metastases was found to be 14% (31 of 215 patients) at diagnosis and 0.5% (1 of 215 patients) for bone metastases in patients with primary extremity OS. Pulmonary metastases usually are multiple and bilateral and infrequently calcify. The number of nodules and lobes involved are predictors of patient survival. Copyright 1999 American Cancer Society.

  17. [The specific features of diagnosis of mixed-phenotype acute leukemia: A combination of B-cell antigen expressions according to the results of flow cytometry and morphological markers of myeloid differentiation in blast cells: A clinical case].

    PubMed

    Gritsaev, S V; Kostroma, I I; Ryadnova, G M; Tiranova, S A; Chubukina, Zh V; Balashova, V A; Zenina, M N; Martynkevich, I S; Potikhonova, N A; Abdulkadyrov, K M

    2015-01-01

    This rare type of acute leukemia, blast cells of which express myeloid and/or lymphoid markers, is mainly diagnosed using flow cytometric findings. The paper describes a clinical case of mixed-phenotype acute leukemia, in which B-cell lymphoid antigen expressions were revealed by a flow cytometric technique, while bone marrow morphological specimens showed the signs of myeloid differentiation specific to blast cells. It is concluded that there is a need for a comprehensive examination of patients with new-onset acute leukemia and for an aggregate analysis of flow cytometric results with morphological and cytochemical findings.

  18. An intelligent system for lung cancer diagnosis using a new genetic algorithm based feature selection method.

    PubMed

    Lu, Chunhong; Zhu, Zhaomin; Gu, Xiaofeng

    2014-09-01

    In this paper, we develop a novel feature selection algorithm based on the genetic algorithm (GA) using a specifically devised trace-based separability criterion. According to the scores of class separability and variable separability, this criterion measures the significance of feature subset, independent of any specific classification. In addition, a mutual information matrix between variables is used as features for classification, and no prior knowledge about the cardinality of feature subset is required. Experiments are performed by using a standard lung cancer dataset. The obtained solutions are verified with three different classifiers, including the support vector machine (SVM), the back-propagation neural network (BPNN), and the K-nearest neighbor (KNN), and compared with those obtained by the whole feature set, the F-score and the correlation-based feature selection methods. The comparison results show that the proposed intelligent system has a good diagnosis performance and can be used as a promising tool for lung cancer diagnosis.

  19. A comparison of different feature extraction methods for diagnosis of valvular heart diseases using PCG signals.

    PubMed

    Rouhani, M; Abdoli, R

    2012-01-01

    This article presents a novel method for diagnosis of valvular heart disease (VHD) based on phonocardiography (PCG) signals. Application of the pattern classification and feature selection and reduction methods in analysing normal and pathological heart sound was investigated. After signal preprocessing using independent component analysis (ICA), 32 features are extracted. Those include carefully selected linear and nonlinear time domain, wavelet and entropy features. By examining different feature selection and feature reduction methods such as principal component analysis (PCA), genetic algorithms (GA), genetic programming (GP) and generalized discriminant analysis (GDA), the four most informative features are extracted. Furthermore, support vector machines (SVM) and neural network classifiers are compared for diagnosis of pathological heart sounds. Three valvular heart diseases are considered: aortic stenosis (AS), mitral stenosis (MS) and mitral regurgitation (MR). An overall accuracy of 99.47% was achieved by proposed algorithm.

  20. Clinical features of delusional jealousy in elderly patients with dementia.

    PubMed

    Hashimoto, Mamoru; Sakamoto, Shinichi; Ikeda, Manabu

    2015-06-01

    Delusional jealousy is a psychotic syndrome characterized by a belief in the infidelity of one's spouse that reaches delusional intensity. Although delusional jealousy has been described in relation to organic psychosis, little is known concerning the actual role of delusional jealousy in dementia. The aim of the present study was to investigate the clinical features of delusional jealousy and possible mechanisms whereby delusional jealousy arises in patients with dementia. We studied 208 consecutive outpatients with dementia (diagnosis based on DSM-III-R criteria; mean [SD] age of 77.0 [8.0] years; study period: September 2011-August 2012). Delusional jealousy was defined as a false belief derived from a pathological jealousy that makes the patient believe that his or her spouse is unfaithful. The prevalence of delusional jealousy was compared between Alzheimer's disease, dementia with Lewy bodies, and vascular dementia. Patients with and without delusional jealousy were compared in terms of general characteristics. In addition, each patient with delusional jealousy and their primary caregivers were interviewed about the clinical features of the syndrome. Of the 208 patients with dementia, 18 (8.7%) showed delusional jealousy. The prevalence of delusional jealousy in patients who had dementia with Lewy bodies (26.3%) was significantly higher than that in patients with Alzheimer's disease (5.5%) (P < .01). There were no significant differences between patients with and without delusional jealousy in regard to gender (P = 1.00), age (P = .81), educational attainment (P = .29), presence of other persons living with the couple (P = .22), and Mini-Mental State Examination score (P = .47). On the other hand, delusional jealousy was preceded by the onset of serious physical diseases in nearly half of the patients. Delusional jealousy resolved within 12 months after treatment in 15 of 18 patients (83%). Although delusional jealousy is a considerable problem in dementia

  1. A clinical approach to the diagnosis of patients with leukodystrophies and genetic leukoencephelopathies

    PubMed Central

    Leventer, Richard J.; van der Knaap, Marjo S.; van Hove, Johan; Pizzino, Amy; McNeill, Nathan H.; Helman, Guy; Simons, Cas; Schmidt, Johanna L.; Rizzo, William B.

    2015-01-01

    Leukodystrophies (LD) and genetic leukoencephalopathies (gLE) are disorders that result in white matter abnormalities in the central nervous system (CNS). Magnetic resonance (MR) imaging (MRI) has dramatically improved and systematized the diagnosis of LDs and gLEs, and in combination with specific clinical features, such as Addison's disease in Adrenoleukodystrophy or hypodontia in Pol-III related or 4H leukodystrophy, can often resolve a case with a minimum of testing. The diagnostic odyssey for the majority LD and gLE patients, however, remains extensive – many patients will wait nearly a decade for a definitive diagnosis and at least half will remain unresolved. The combination of MRI, careful clinical evaluation and next generation genetic sequencing holds promise for both expediting the diagnostic process and dramatically reducing the number of unresolved cases. Here we present a workflow detailing the Global Leukodystrophy Initiative (GLIA) consensus recommendations for an approach to clinical diagnosis, including salient clinical features suggesting a specific diagnosis, neuroim-aging features and molecular genetic testing. We also discuss recommendations on the use of broad-spectrum next-generation sequencing in instances of ambiguous MRI or clinical findings. We conclude with a proposal for systematic trials of genome-wide agnostic testing as a first line diagnostic in LDs and gLEs given the increasing number of genes associated with these disorders. PMID:25655951

  2. Diaper dermatitis: clinical characteristics and differential diagnosis.

    PubMed

    Coughlin, Carrie C; Eichenfield, Lawrence F; Frieden, Ilona J

    2014-11-01

    A diverse group of diseases can cause skin conditions in the diaper area including those which are directly caused by diapers or the diaper environment, some which are not directly due to, but are worsened by, the wearing of diapers, and those which are independent of the presence of the diaper or its resulting environment. Many of these conditions are limited to this area of the skin, but others extend to skin outside this area, and some are signs of systemic disease. We review many of the important causes of eruptions in the diaper area and emphasize key points in the differential diagnosis.

  3. A practical method for clinical diagnosis of oral mucosal melanomas.

    PubMed

    Delgado Azañero, Wilson A; Mosqueda Taylor, Adalberto

    2003-01-01

    To present a practical and technically simple method for clinical diagnosis of oral melanomas that allows to differentiate this neoplasm from other pigmented lesions. Thirteen oral pigmented lesions with suspected diagnosis of mucosal melanomas were submitted to a test named "rubbing with a gauze" the surface of the lesion. The test was considered positive when the gauze stained dark brown or black due to the presence of melanin-laden cells on the epithelial surface. In all cases definite diagnosis was confirmed by biopsy. Positive results were obtained in 11 out of 13 cases (84.6%). Our results establish that the test "rubbing with gauze" the surface of oral pigmented lesions demonstrates a high sensitivity to anticipate clinically the diagnosis of mucosal melanomas. However, a negative result does not exclude this neoplasm, since there are some cases in which malignant cells have not invaded the superficial epithelial layers. In every case the final diagnosis must be established by histopathologic or immunohistochemical analysis.

  4. [Clinical importance and diagnosis of halitosis].

    PubMed

    Akos, Nagy; Zsolt, Brugoviczky; Péter, Novák; Gábor, Nagy

    2012-09-01

    The origin of halitosis comes from the Latin word "halitus" meaning 'breath, exhaled air', and in the Hungarian terminology it means bad and smelly breath. The human body emits a number of volatile molecules, which have a peculiar odour. Their presence is influenced by several factors, such as genetic, nutritional and psychological factors. Since bad breath belongs to taboo subjects, halitosis can often lead to social isolation. To determine the incidence of halitosis, an exact diagnosis is needed which sometimes predestinates the possible treatment as well. Investigators estimate the incidence about 50% in the whole population. The male/female ratio is the same and the incidence is growing with age. The diagnosis can be genuine halitosis, pseudo halitosis and halitophobia. We can divide the genuine type into physiological and pathophysiological subtypes. The cause of the halitosis usually can be found in the oral cavity. The volatile sulfur compounds (VSC) produced by some of the oral bacteria are responsible for its development. Only 10% of the causes are extraoral, mostly inflammation of airways or gastrointestinal disorders. The judgment of halitosis is based on three objective methods: the organoleptic, the sulphide monitoring and the gas cromatography methods. Since the origin of the halitosis is mainly the oral cavity, dentists should treat them. Beyond the dental treatments the enhancement of the oral hygiene, the continuous motivation and monitoring are also very important, such as the use of tongue cleansing and special anti-malodour rinses.

  5. Clinical Features of Community-Acquired Helicobacter cinaedi Bacteremia.

    PubMed

    Uwamino, Yoshifumi; Muranaka, Kiyoharu; Hase, Ryota; Otsuka, Yoshihito; Hosokawa, Naoto

    2016-02-01

    There are growing numbers of reports concerning the clinical and pathological features of Helicobacter cinaedi (H. cinaedi) bacteremia; however, few reports have discussed the features of this condition in healthy individuals. A retrospective observational study was conducted at a Japanese tertiary care hospital to assess the clinical features of community-acquired H. cinaedi. All patients in whom H. cinaedi was isolated between January 2009 and March 2014 were identified from the hospital database. Of the 28 patients included in the study, 12 had community-acquired H. cinaedi bacteremia. The most common clinical feature was cellulitis (n = 17). However, nearly half of the patients with healthcare-associated or nosocomial-associated bacteremia displayed no symptoms with the exception of fever. Most patients were successfully treated with a 14-day regime of third-generation cephalosporins or tetracycline. Our results show that H. cinaedi infections are quite common in immunocompetent community-dwelling individuals. © 2015 John Wiley & Sons Ltd.

  6. Clustering clinical trials with similar eligibility criteria features.

    PubMed

    Hao, Tianyong; Rusanov, Alexander; Boland, Mary Regina; Weng, Chunhua

    2014-12-01

    To automatically identify and cluster clinical trials with similar eligibility features. Using the public repository ClinicalTrials.gov as the data source, we extracted semantic features from the eligibility criteria text of all clinical trials and constructed a trial-feature matrix. We calculated the pairwise similarities for all clinical trials based on their eligibility features. For all trials, by selecting one trial as the center each time, we identified trials whose similarities to the central trial were greater than or equal to a predefined threshold and constructed center-based clusters. Then we identified unique trial sets with distinctive trial membership compositions from center-based clusters by disregarding their structural information. From the 145,745 clinical trials on ClinicalTrials.gov, we extracted 5,508,491 semantic features. Of these, 459,936 were unique and 160,951 were shared by at least one pair of trials. Crowdsourcing the cluster evaluation using Amazon Mechanical Turk (MTurk), we identified the optimal similarity threshold, 0.9. Using this threshold, we generated 8806 center-based clusters. Evaluation of a sample of the clusters by MTurk resulted in a mean score 4.331±0.796 on a scale of 1-5 (5 indicating "strongly agree that the trials in the cluster are similar"). We contribute an automated approach to clustering clinical trials with similar eligibility features. This approach can be potentially useful for investigating knowledge reuse patterns in clinical trial eligibility criteria designs and for improving clinical trial recruitment. We also contribute an effective crowdsourcing method for evaluating informatics interventions. Copyright © 2014 Elsevier Inc. All rights reserved.

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

    ERIC Educational Resources Information Center

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

    2008-01-01

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

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

    ERIC Educational Resources Information Center

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

    2008-01-01

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

  9. Opportunistic invasive fungal infections: diagnosis & clinical management

    PubMed Central

    Badiee, Parisa; Hashemizadeh, Zahra

    2014-01-01

    Invasive fungal infections are a significant health problem in immunocompromised patients. The clinical manifestations vary and can range from colonization in allergic bronchopulmonary disease to active infection in local aetiologic agents. Many factors influence the virulence and pathogenic capacity of the microorganisms, such as enzymes including extracellular phospholipases, lipases and proteinases, dimorphic growth in some Candida species, melanin production, mannitol secretion, superoxide dismutase, rapid growth and affinity to the blood stream, heat tolerance and toxin production. Infection is confirmed when histopathologic examination with special stains demonstrates fungal tissue involvement or when the aetiologic agent is isolated from sterile clinical specimens by culture. Both acquired and congenital immunodeficiency may be associated with increased susceptibility to systemic infections. Fungal infection is difficult to treat because antifungal therapy for Candida infections is still controversial and based on clinical grounds, and for molds, the clinician must assume that the species isolated from the culture medium is the pathogen. Timely initiation of antifungal treatment is a critical component affecting the outcome. Disseminated infection requires the use of systemic agents with or without surgical debridement, and in some cases immunotherapy is also advisable. Preclinical and clinical studies have shown an association between drug dose and treatment outcome. Drug dose monitoring is necessary to ensure that therapeutic levels are achieved for optimal clinical efficacy. The objectives of this review are to discuss opportunistic fungal infections, diagnostic methods and the management of these infections. PMID:24718393

  10. Visual Aggregate Analysis of Eligibility Features of Clinical Trials

    PubMed Central

    He, Zhe; Carini, Simona; Sim, Ida; Weng, Chunhua

    2015-01-01

    Objective To develop a method for profiling the collective populations targeted for recruitment by multiple clinical studies addressing the same medical condition using one eligibility feature each time. Methods Using a previously published database COMPACT as the backend, we designed a scalable method for visual aggregate analysis of clinical trial eligibility features. This method consists of four modules for eligibility feature frequency analysis, query builder, distribution analysis, and visualization, respectively. This method is capable of analyzing (1) frequently used qualitative and quantitative features for recruiting subjects for a selected medical condition, (2) distribution of study enrollment on consecutive value points or value intervals of each quantitative feature, and (3) distribution of studies on the boundary values, permissible value ranges, and value range widths of each feature. All analysis results were visualized using Google Charts API. Five recruited potential users assessed the usefulness of this method for identifying common patterns in any selected eligibility feature for clinical trial participant selection. Results We implemented this method as a Web-based analytical system called VITTA (Visual Analysis Tool of Clinical Study Target Populations). We illustrated the functionality of VITTA using two sample queries involving quantitative features BMI and HbA1c for conditions “hypertension” and “Type 2 diabetes”, respectively. The recruited potential users rated the user-perceived usefulness of VITTA with an average score of 86.4/100. Conclusions We contributed a novel aggregate analysis method to enable the interrogation of common patterns in quantitative eligibility criteria and the collective target populations of multiple related clinical studies. A larger-scale study is warranted to formally assess the usefulness of VITTA among clinical investigators and sponsors in various therapeutic areas. PMID:25615940

  11. Clinical value of mammography in diagnosis and identification of breast mass

    PubMed Central

    Li, Hongjun; Zhang, Shanhua; Wang, Qingyuan; Zhu, Rongguang

    2016-01-01

    Objective: To study the effect and clinical value of mammography in the diagnosis of breast lump so as to improve the diagnosis level of breast cancer. Methods: A retrospective analysis was carried out on clinical data of 110 patients with mammary lump confirmed by pathology to study the compliance of mammography diagnosis and Pathology diagnosis in breast lump, and the detection of microcalcifications, phyllode, and observe the image performance of mammography. Taking infitrating ductal carcinoma (IDC) as an example, the correlation of image performance and clinical pathological features of different types was studied so as to predict if mammography performance was effective in the treatment and prognosis in breast cancer. Results: Taking Breast Imaging Reporting and Data System (BI-RADS) grade 4A as the critical point, the sensitivity, specificity and accuracy of mammography was 90.80% (109/120), 84.60% (126/149) and 87.40% (235/269); taking BI-RADS grade 4B as the critical point, the sensitivity, specificity and accuracy of mammography was 85.00% (102/120), 93.30% (139/149) and 89.60% (241/269); the correlation analysis suggested that, there was some kind of correlation between the mammography performance and clinical features of breast cancer. Conclusion: Mammography is worth being promoted in clinic for its significant clinical value in diagnosing and identifying breast lump. PMID:27648060

  12. Bullous X linked retinoschisis: clinical features and prognosis.

    PubMed

    Hinds, Anne-Marie; Fahim, Abigail; Moore, Anthony T; Wong, Sui Chien; Michaelides, Michel

    2017-08-28

    A subset of patients with X linked retinoschisis (XLRS) have bullous schisis cavities in the peripheral retina. This study describes the characteristics and prognosis of the bullous form of XLRS. A retrospective case series was performed of nine patients with molecularly proven bullous XLRS seen at a single tertiary centre. All cases of bullous peripheral schisis were bilateral, with one unilateral case at presentation which developed into bilateral bullous schisis over time. The mean age of onset was 1.9 years (range: 1 month-7 years, SD: 2.1 years) and at clinical diagnosis was 5.9 years (range: 1 month-27 years, SD: 9.0 years). Mean follow-up was 11 years (range: 6 months-36 years, SD: 10.8 years). Strabismus was the most common presentation (n=7). Other presenting complaints included decreased vision, floaters and an irregularly shaped pupil. The most frequently associated ocular features were strabismus (100%), vitreous haemorrhage (4/18 eyes, 22%), nystagmus (2/9, 22%) and persistent fetal vasculature (1/18, 6%). Localised tractional detachment was seen in 2/18 (11%) eyes, total detachment that underwent surgical repair in 1/18 (6%) and pigmented demarcation lines in a further 22% of the eyes. There was one eye with exudative retinal detachment. In XLRS, bullous schisis may be congenital or develop soon after birth and most commonly presents with strabismus. Cases may be complicated by some form of retinal detachment, which may be tractional or a Coats-like exudative detachment. © Article author(s) (or their employer(s) unless otherwise stated in the text of the article) 2017. All rights reserved. No commercial use is permitted unless otherwise expressly granted.

  13. Association between histological features in temporal artery biopsies and clinical features of patients with giant cell arteritis.

    PubMed

    Breuer, Gabriel S; Nesher, Ronit; Reinus, Konstantin; Nesher, Gideon

    2013-06-01

    In most cases of giant cell arteritis (GCA) the diagnosis is confirmed by temporal artery biopsy. Aside from the diagnostic purpose, histological parameters may serve as prognostic markers. To review positive temporal artery biopsies ofGCA in an attempt to correlate various histological parameters with clinical features, disease complications and outcome. Positive biopsies from 65 GCA patients were randomly selected for review by a single pathologist. In each biopsy the following parameters were scored: intensity and location of the inflammatory infiltrate, presence of giant cells and other cell types, fragmentation and calcification of the internal elastic lamina, intimal thickening, and presence of luminal thrombus. Clinical data were obtained from the patients' charts. Intensity of the initial systemic inflammatory reaction (ISIR) at the time of diagnosis was scored by the presence of five parameters: fever, anemia, thrombocytosis, leukocytosis, and sedimentation rate >100 mm/hr. In cases with bilateral positive biopsy (n=27), there was good correlation between the two sides regarding intensity of inflammation (r= 0.65, P< 0.001), location of the infiltrate (r= 0.7, P< 0.001), degree of intimal thickening (r= 0.54, P 0.001), and presence of giant cells (r= 0.83, P< 0.001). The rate of corticosteroid discontinuation tended to be quicker in patients with inflammatory infiltrates confined mainly to the adventitia, but other histological parameters did not affect this rate. Inflammatory infiltrates confined to the adventitia were associated with more neuro-ophthalmic ischemic manifestations, weak/moderate ISIR at the time of diagnosis, and faster rate of corticosteroid discontinuation. No association was found between other temporal artery biopsy histological parameters and clinical features of GCA patients.

  14. 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.

  15. Optimal reconstruction and quantitative image features for computer-aided diagnosis tools for breast CT.

    PubMed

    Lee, Juhun; Nishikawa, Robert M; Reiser, Ingrid; Boone, John M

    2017-05-01

    The purpose of this study is to determine the optimal representative reconstruction and quantitative image feature set for a computer-aided diagnosis (CADx) scheme for dedicated breast computer tomography (bCT). We used 93 bCT scans that contain 102 breast lesions (62 malignant, 40 benign). Using an iterative image reconstruction (IIR) algorithm, we created 37 reconstructions with different image appearances for each case. In addition, we added a clinical reconstruction for comparison purposes. We used image sharpness, determined by the gradient of gray value in a parenchymal portion of the reconstructed breast, as a surrogate measure of the image qualities/appearances for the 38 reconstructions. After segmentation of the breast lesion, we extracted 23 quantitative image features. Using leave-one-out-cross-validation (LOOCV), we conducted the feature selection, classifier training, and testing. For this study, we used the linear discriminant analysis classifier. Then, we selected the representative reconstruction and feature set for the classifier with the best diagnostic performance among all reconstructions and feature sets. Then, we conducted an observer study with six radiologists using a subset of breast lesions (N = 50). Using 1000 bootstrap samples, we compared the diagnostic performance of the trained classifier to those of the radiologists. The diagnostic performance of the trained classifier increased as the image sharpness of a given reconstruction increased. Among combinations of reconstructions and quantitative image feature sets, we selected one of the sharp reconstructions and three quantitative image feature sets with the first three highest diagnostic performances under LOOCV as the representative reconstruction and feature set for the classifier. The classifier on the representative reconstruction and feature set achieved better diagnostic performance with an area under the ROC curve (AUC) of 0.94 (95% CI = [0.81, 0.98]) than those of the

  16. Psoriasis: Epidemiology, clinical features, co-morbidities, and clinical scoring

    PubMed Central

    Dogra, Sunil; Mahajan, Rahul

    2016-01-01

    On the basis of current evidence derived from hospital-based studies, mostly from North India, the prevalence of psoriasis in adults varies from 0.44 to 2.8%, with a much lower prevalence in children. The peak age at onset in adults is in the third and fourth decade of life, with a slight male preponderance. It is recommended that population-based large epidemiologic studies should be undertaken in different parts of the country for estimating the correct prevalence of psoriasis in general population. Chronic plaque-type psoriasis is the most common morphologic presentation of psoriasis, accounting for more than 90% of all cases. Other morphologic variants that deserve special mention include palmoplantar psoriasis, pustular psoriasis, and recalcitrant psoriasis. For epidemiologic purposes, psoriasis can be classified into early and late onset psoriasis. Psoriasis can be classified on the basis of morphology and extent of involvement into localized and widespread disease. For the purpose of clinical trials, psoriasis may be classified as mild psoriasis, moderate psoriasis, and severe psoriasis. The literature shows that there is a significant risk of psoriatic arthritis (7–48%) in patients with plaque-type psoriasis. Hence, it is recommended to evaluate for its presence by detailed history taking and clinical examination, and if necessary, by appropriate radiological investigations. Evidence on the association between plaque-type psoriasis and cardiovascular disease risk factors and ischemic heart disease isinconsistent. On the basis ofavailable evidence, it is prudent to proactively look for metabolic syndrome, dyslipidemia, and obesity, especially in patientswith severe psoriasis (Level 1+ evidence based on systematic reviews and meta-analysis). Based on the current evidence, the psoriasis area severity index appears to be the most valid and reproducible clinical severity score in the management of adult patients with plaque-type psoriasis. PMID:27990381

  17. [Clinical presentation and diagnosis of epileptic auras].

    PubMed

    Barletova, E I; Kremenchugskaia, M R; Mukhin, K Iu; Glukhova, L Iu; Mironov, M B

    2012-01-01

    To define clinical presentations of visual auras and to reveal their clinical, encephalographic and neuroimaging correlates, we examined 23 patients, aged from 5 to 25 years (mean 14±6 years), with focal forms of epilepsy. Patients had visual auras regardless of the etiology of epilepsy which developed immediately before epileptic seizures or were isolated. Patients had simple or complex visual hallucinations, the former occurring more frequently, visual illusions and ictal amaurosis. Positive visual phenomena were noted more frequently than negative ones. In most of the patients, visual hallucinations were associated with the pathological activity in cortical occipital regions of the brain and, in some cases, in temporal and parietal regions. The different pathologies (developmental defects, post-ischemic, atrophic and other disturbances) identified by MRI were found in a half of patients.

  18. Unsupervised Pattern Classifier for Abnormality-Scaling of Vibration Features for Helicopter Gearbox Fault Diagnosis

    NASA Technical Reports Server (NTRS)

    Jammu, Vinay B.; Danai, Kourosh; Lewicki, David G.

    1996-01-01

    A new unsupervised pattern classifier is introduced for on-line detection of abnormality in features of vibration that are used for fault diagnosis of helicopter gearboxes. This classifier compares vibration features with their respective normal values and assigns them a value in (0, 1) to reflect their degree of abnormality. Therefore, the salient feature of this classifier is that it does not require feature values associated with faulty cases to identify abnormality. In order to cope with noise and changes in the operating conditions, an adaptation algorithm is incorporated that continually updates the normal values of the features. The proposed classifier is tested using experimental vibration features obtained from an OH-58A main rotor gearbox. The overall performance of this classifier is then evaluated by integrating the abnormality-scaled features for detection of faults. The fault detection results indicate that the performance of this classifier is comparable to the leading unsupervised neural networks: Kohonen's Feature Mapping and Adaptive Resonance Theory (AR72). This is significant considering that the independence of this classifier from fault-related features makes it uniquely suited to abnormality-scaling of vibration features for fault diagnosis.

  19. Optical assay for biotechnology and clinical diagnosis.

    PubMed

    Moczko, Ewa; Cauchi, Michael; Turner, Claire; Meglinski, Igor; Piletsky, Sergey

    2011-08-01

    In this paper, we present an optical diagnostic assay consisting of a mixture of environmental-sensitive fluorescent dyes combined with multivariate data analysis for quantitative and qualitative examination of biological and clinical samples. The performance of the assay is based on the analysis of spectrum of the selected fluorescent dyes with the operational principle similar to electronic nose and electronic tongue systems. This approach has been successfully applied for monitoring of growing cell cultures and identification of gastrointestinal diseases in humans.

  20. Male infertility: pathogenesis and clinical diagnosis.

    PubMed

    Krausz, Csilla

    2011-04-01

    Infertility affects about 7% of all men. The etiology of impaired sperm production and function can be related to factors acting at pre-testicular, post-testicular or directly at the testicular level. Primary testicular failure accounts for about 75% of all male factor infertility. Genetic factors can be identified in about 15% of cases (congenital hypogonadotrophic hypogonadism, congenital absence of vas deferens, primitive testicular failure). Despite progresses, mainly in the field of genetics, the etiology is still unknown in about 50% cases and it is termed "idiopathic infertility". A part from few exceptions, the only available therapy for male factor infertility is assisted reproduction which allows conception also in severe male factor, including azoospermia following testicular sperm extraction. The complete diagnostic workup is important for: i) the identification of treatable/reversible or health-threatening conditions; ii) selection of patients for assisted reproductive techniques; iii) for appropriate genetic counselling including preventive measures (preimplanatation or prenatal diagnosis) to safeguard the health of future offspring. Copyright © 2010 Elsevier Ltd. All rights reserved.

  1. Etiology, diagnosis, and clinical management of vulvodynia

    PubMed Central

    Sadownik, Leslie A

    2014-01-01

    Chronic vulvar pain or discomfort for which no obvious etiology can be found, ie, vulvodynia, can affect up to 16% of women. It may affect girls and women across all age groups and ethnicities. Vulvodynia is a significant burden to society, the health care system, the affected woman, and her intimate partner. The etiology is multifactorial and may involve local injury or inflammation, and peripheral and or central sensitization of the nervous system. An approach to the diagnosis and management of a woman presenting with chronic vulvar pain should address the biological, psychological, and social/interpersonal factors that contribute to her illness. The gynecologist has a key role in excluding other causes for vulvar pain, screening for psychosexual and pelvic floor dysfunction, and collaborating with other health care providers to manage a woman’s pain. An important component of treatment is patient education regarding the pathogenesis of the pain and the negative impact of experiencing pain on a woman’s overall quality of life. An individualized, holistic, and often multidisciplinary approach is needed to effectively manage the woman’s pain and pain-related distress. PMID:24833921

  2. Automatic differential diagnosis of pancreatic serous and mucinous cystadenomas based on morphological features.

    PubMed

    Song, Jae-Won; Lee, Ju-Hong; Choi, Joon-Hyuk; Chun, Seok-Ju

    2013-01-01

    Generally, pathological diagnosis using an electron microscope is time-consuming and likely to result in a subjective judgment, because pathologists perform manual screening of tissue slides at high magnifications. Recently, the advent of digital pathology technology has provided the basis for convenient screening and quantitative analysis by digitizing tissue slides through a computer system. However, a screening process with high magnification still takes quite a long time. To solve these problems, recently the use of computer-aided design techniques for performing pathologic diagnosis has been increasing in digital pathology. For pathological diagnosis, we need different diagnostic methods for different regions with different characteristics. Therefore, in order to effectively diagnose different lesions and types of diseases, a quantitative method for extracting specific features is required in computerized pathologic diagnosis. This study is about an automated differential diagnosis system to differentiate between benign serous cystadenoma and possibly-malignant mucinous cystadenoma. In order to diagnose cystic tumors, the first step is identifying a cystic region and inspecting its epithelial cells. First, we identify the lumen boundary of a cyst using the Direction Cumulative Map considering 8-ways. Then, the Epithelial Nuclei Identification algorithm is used to discern epithelial nuclei. After that, three morphological features for the differential diagnosis of mucinous and serous cystadenomas are extracted. To demonstrate the superiority of the proposed features, the experiments compared performance of the classifiers learned by using the proposed morphological features and the classical morphological features based on nuclei. The classifiers in the simulations are as follows; Bayesian Classifier, k-Nearest Neighbors, Support Vector Machine, and Artificial Neural Network. The results show that all classifiers using the proposed features have the best

  3. Automatic extraction of retinal features from colour retinal images for glaucoma diagnosis: a review.

    PubMed

    Haleem, Muhammad Salman; Han, Liangxiu; van Hemert, Jano; Li, Baihua

    2013-01-01

    Glaucoma is a group of eye diseases that have common traits such as, high eye pressure, damage to the Optic Nerve Head and gradual vision loss. It affects peripheral vision and eventually leads to blindness if left untreated. The current common methods of pre-diagnosis of Glaucoma include measurement of Intra-Ocular Pressure (IOP) using Tonometer, Pachymetry, Gonioscopy; which are performed manually by the clinicians. These tests are usually followed by Optic Nerve Head (ONH) Appearance examination for the confirmed diagnosis of Glaucoma. The diagnoses require regular monitoring, which is costly and time consuming. The accuracy and reliability of diagnosis is limited by the domain knowledge of different ophthalmologists. Therefore automatic diagnosis of Glaucoma attracts a lot of attention. This paper surveys the state-of-the-art of automatic extraction of anatomical features from retinal images to assist early diagnosis of the Glaucoma. We have conducted critical evaluation of the existing automatic extraction methods based on features including Optic Cup to Disc Ratio (CDR), Retinal Nerve Fibre Layer (RNFL), Peripapillary Atrophy (PPA), Neuroretinal Rim Notching, Vasculature Shift, etc., which adds value on efficient feature extraction related to Glaucoma diagnosis. Copyright © 2013 Elsevier Ltd. All rights reserved.

  4. Clinical features, histology, and histogenesis of combined hepatocellular-cholangiocarcinoma

    PubMed Central

    Gera, Shweta; Ettel, Mark; Acosta-Gonzalez, Gabriel; Xu, Ruliang

    2017-01-01

    Combined hepatocellular-cholangiocarcinoma (CHC) is a rare tumor with poor prognosis, with incidence ranging from 1.0%-4.7% of all primary hepatic tumors. This entity will be soon renamed as hepato-cholangiocarcinoma. The known risk factors for hepatocellular carcinoma (HCC) have been implicated for CHC including viral hepatitis and cirrhosis. It is difficult to diagnose this tumor pre-operatively. The predominant histologic component within the tumor largely determines the predominant radiographic features making it a difficult distinction. Heterogeneous and overlapping imaging features of HCC and cholangiocarcinoma should raise the suspicion for CHC and multiple core biopsies (from different areas of tumor) are recommended before administering treatment. Serum tumor markers CA19-9 and alpha-fetoprotein can aid in the diagnosis, but it remains a challenging diagnosis prior to resection. There is sufficient data to support bipotent hepatic progenitor cells as the cell of origin for CHC. The current World Health Organization classification categorizes two main types of CHC based on histo-morphological features: Classical type and CHC with stem cell features. Liver transplant is one of the available treatment modalities with other management options including transarterial chemoembolization, radiofrequency ablation, and percutaneous ethanol injection. We present a review paper on CHC highlighting the risk factors, origin, histological classification and therapeutic modalities. PMID:28293379

  5. Variability of clinical features in attacks of migraine with aura.

    PubMed

    Hansen, Jakob M; Goadsby, Peter J; Charles, Andrew C

    2016-03-01

    There is significant variability in the clinical presentation of migraine, both among patients, and between attacks in an individual patient. We examined clinical features of migraine with aura in a large group of patients enrolled in a clinical trial, and compared retrospective migraine attack characteristics reported upon enrollment in the trial with those recorded prospectively in the trial. Patients with migraine (n = 267) with typical visual aura in more than 30% of their attacks were enrolled from 16 centers for a clinical trial. Upon enrollment, patients provided a detailed retrospective description of the clinical features of their attacks of migraine. During the trial, clinical symptoms in migraine attacks starting with aura were recorded prospectively in 861 attacks. Retrospectively reported visual aura symptoms were variable and often overlapping; the most common symptoms were dots or flashing lights, wavy or jagged lines, blind spots, and tunnel vision. Multiple patients reported more than one visual phenomenon. Approximately half of the patients reported nonvisual aura symptoms, the most common were numbness and tingling, followed by difficulty in recalling or speaking words. A significant percentage of patients also reported a change in olfaction. There were several inconsistencies between the features of prospectively recorded and retrospectively reported attacks. Headache, nausea, photophobia, and phonophobia were all less common in prospectively recorded attacks as compared with retrospective reporting. Nausea was prospectively recorded in only 51% of attacks and mostly with mild intensity. The occurrence and severity of nausea was reduced with advancing patient age. Phonophobia was not consistently recorded in conjunction with photophobia. These findings are consistent with variable involvement of different brain regions during a migraine attack. The variable occurrence of nausea, and phonophobia in conjunction with photophobia, both defining

  6. Bradyarrhythmias: Clinical Presentation, Diagnosis, and Management.

    PubMed

    Wung, Shu-Fen

    2016-09-01

    Bradyarrhythmias are common clinical findings consisting of physiologic and pathologic conditions (sinus node dysfunction and atrioventricular [AV] conduction disturbances). Bradyarrhythmias can be benign, requiring no treatment; however, acute unstable bradycardia can lead to cardiac arrest. In patients with confirmed or suspected bradycardia, a thorough history and physical examination should include possible causes of sinoatrial node dysfunction or AV block. Management of bradycardia is based on the severity of symptoms, the underlying causes, presence of potentially reversible causes, presence of adverse signs, and risk of progression to asystole. Pharmacologic therapy and/or pacing are used to manage unstable or symptomatic bradyarrhythmias. Copyright © 2016 Elsevier Inc. All rights reserved.

  7. Prostatitis--an increasing clinical problem for diagnosis and management.

    PubMed

    Leigh, D A

    1993-07-01

    Prostatitis remains a challenging condition. The clinical features are often nonspecific while the aetiology and pathogenesis can be diverse and includes inflammatory, obstructive, and/or chemical causes and may also be related to calculi. Four categories are recognized: acute bacterial prostatitis, chronic bacterial prostatitis, non-bacterial prostatitis and prostatodynia. The diagnosis of prostatitis was advanced substantially by the introduction of sequential sampling of urine aliquots following prostatic massage. Bacterial prostatitis is largely associated with the Enterobacteriaceae although Pseudomonas spp., enterococci and Staphylococcus aureus may also be isolated. In chronic bacterial prostatitis a variety of streptococci and anaerobic bacteria may be isolated. Treatment is difficult largely owing to the limited range of agents able to achieve therapeutic concentrations within prostatic fluid, which has a pH lower than that of plasma. Trimethroprim, co-trimoxazole and the tetracyclines have been widely used. The quinolones have recently been shown to diffuse readily into the prostate; ofloxacin and temafloxacin have produced the highest concentrations in prostatic fluid. Antibiotic treatment requires prolonged high dosage and careful monitoring to ensure that bacterial eradication has occurred. Other forms of management have included the judicious use of anti-inflammatory agents and analgesics. In some patients zinc sulphate has proved to be of symptomatic benefit.

  8. Air Embolism: Diagnosis, Clinical Management and Outcomes

    PubMed Central

    McCarthy, Colin J.; Behravesh, Sasan; Naidu, Sailendra G.; Oklu, Rahmi

    2017-01-01

    Air embolism is a rare but potentially fatal complication of surgical procedures. Rapid recognition and intervention is critical for reducing morbidity and mortality. We retrospectively characterized our experience with air embolism during medical procedures at a tertiary medical center. Electronic medical records were searched for all cases of air embolism over a 25-year period; relevant medical and imaging records were reviewed. Sixty-seven air embolism cases were identified; the mean age was 59 years (range, 3–89 years). Ninety-four percent occurred in-hospital, of which 77.8% were during an operation/invasive procedure. Vascular access-related procedures (33%) were the most commonly associated with air embolism. Clinical signs and symptoms were related to the location the air embolus; 36 cases to the right heart/pulmonary artery, 21 to the cerebrum, and 10 were attributed to patent foramen ovale (PFO). Twenty-one percent of patients underwent hyperbaric oxygen therapy (HBOT), 7.5% aspiration of the air, and 63% had no sequelae. Mortality rate was 21%; 69% died within 48 hours. Thirteen patients had immediate cardiac arrest where mortality rate was 53.8%, compared to 13.5% (p = 0.0035) in those without. Air emboli were mainly iatrogenic, primarily associated with endovascular procedures. High clinical suspicion and early treatment are critical for survival. PMID:28106717

  9. Diagnosis and management of extensive vascular malformations of the lower limb: part I. Clinical diagnosis.

    PubMed

    Redondo, Pedro; Aguado, Leyre; Martínez-Cuesta, Antonio

    2011-11-01

    There is significant confusion in the literature when describing vascular anomalies, and vascular malformations are often misnamed or incorrectly classified. Part I of this two-part series on the diagnosis and management of extensive vascular malformations of the lower limbs will discuss the dermatologist's role in the diagnosis of these lesions. At least nine types of vascular malformations with specific clinical and radiologic characteristics must be distinguished in the lower limbs: Klippel-Trénaunay syndrome, port-wine stain with or without hypertrophy, cutis marmorata telangiectatica congenita, macrocephaly-capillary malformation, Parkes Weber syndrome, Stewart-Bluefarb syndrome, venous malformation, glomuvenous malformation, and lymphatic malformation. This article highlights the differences in clinical appearance and discusses the differential diagnosis of extensive vascular malformations in an attempt to ensure earlier diagnosis and better outcomes for these patients.

  10. [Importance of questioning and physical examination in pediatric clinical diagnosis].

    PubMed

    Rendón-Macías, M E; Lazcano-Loya, J C

    1996-01-01

    In order to determine the certainty of the nosologic as well as the etiologic diagnosis of a complication that a group of physicians can achieve with the use of the interrogatory and physical examination in solving pediatric cases, a comparative survey was carried out with 36 pediatricians. Three clinical cases were chosen (A, B and C) in three different versions (1 = interrogatory, 2 = interrogatory plus physical examination, and 3 = the same plus clinical laboratory tests). Randomly, the physicians reached a diagnosis in all three cases in any one of its versions. Generally, through interrogatory, 66.6% of the physicians (24/36) reached a nosologic diagnosis, 8.3% (3/26) diagnosed the complication and 41% (15/36) the etiological. Together with the physical examination, the percentages increased to 67.5% (25/ 37), 18.9% (7/37) and 43.2% (16/37), respectively (p < 0.05). In Case A, the main nosologic diagnosis was reached by 71, 90 and 91% of the physicians, V = 1, 2 and 3 (p = ns). In Case B, the main nosologic diagnosis was reached by all of the physicians, and in C, 10, 21 and 90% (p < 0.05) of the physicians, respectively. No differences were found in determining the etiologic diagnosis in versions one and two of the three cases. Differences were found in V3 (p < 0.001). More physicians reached the diagnosis of the complications in Cases A and C. Having previous experience in similar cases allowed for a greater percentage of physicians to reach the main nosologic diagnosis (75%, 18/24 vs. 50%, 6/ 112, p = 0.03). The interrogatory and the physical examinations in pediatrics continue to be a useful tool, allowing for a certain diagnosis in 70% to 100% of the cases of common ambulatory pathology. Previous experience in similar cases is a determining factor in reaching a correct diagnosis.

  11. Clinical features and diagnosis of diabetic ketoacidosis in children

    USDA-ARS?s Scientific Manuscript database

    Diabetic ketoacidosis (DKA) is the leading cause of morbidity and mortality in children with type 1 diabetes mellitus (DM). DKA also can occur children with type 2 DM, particularly in obese African-American adolescents. In recent years, the incidence and prevalence of type 2 diabetes mellitus have i...

  12. Coronary artery spasm--clinical features, diagnosis, pathogenesis, and treatment.

    PubMed

    Yasue, Hirofumi; Nakagawa, Hitoshi; Itoh, Teruhiko; Harada, Eisaku; Mizuno, Yuji

    2008-02-01

    Coronary (artery) spasm plays an important role in the pathogenesis of ischemic heart disease, including stable angina, unstable angina, myocardial infarction, and sudden death. The prevalence of coronary spasm differs among populations, is higher in Japan and Korea than in the Western countries probably due to genetic as well as environmental factors. Coronary spasm occurs most often from midnight to early morning and is usually not induced by exercise in the daytime. The attacks of coronary spasm are associated with either ST segment elevation or depression, or negative U wave on ECG. Patients with multi-vessel coronary spasm may suffer from lethal arrhythmia, including advanced AV block, ventricular tachycardia or fibrillation, or even sudden death, and they are often resistant to conventional medical therapy including Ca-channel blockers (CCBs). Endothelial nitric oxide (NO) activity is reduced and markers of oxidative stress are elevated in patients with coronary spasm. Thrombogenesis is enhanced and plasma levels of hsCRP and P-selection are elevated in patients with coronary spasm. Thus, patients with coronary spasm have endothelial dysfunction and are suffering from a low-grade chronic inflammation. Polymorphisms of endothelial NO synthase, smoking, and low-grade inflammation are the most important risk factors for coronary spasm. Coronary spasm is a hyper-contraction of coronary smooth muscle triggered by an increase of intracellular Ca2+ in the presence of an increased Ca2+ sensitivity. It has been shown that RhoA/ROCK pathway is involved in Ca2+ sensitivity and that the reduced endothelial NO activity results in increased Ca2+ sensitivity through enhanced RhoA/ROCK pathway. Accordingly, it is possible that in addition to CCBs, RhoA/ROCK pathway blockers may prove to be useful for the treatment of coronary spasm.

  13. Feature fusion via hierarchical supervised local CCA for diagnosis of autism spectrum disorder.

    PubMed

    Zhao, Feng; Qiao, Lishan; Shi, Feng; Yap, Pew-Thian; Shen, Dinggang

    2016-08-17

    Early diagnosis of autism spectrum disorder (ASD) is critical for timely medical intervention, for improving patient quality of life, and for reducing the financial burden borne by the society. A key issue in neuroimaging-based ASD diagnosis is the identification of discriminating features and then fusing them to produce accurate diagnosis. In this paper, we propose a novel framework for fusing complementary and discriminating features from different imaging modalities. Specifically, we integrate the Fisher discriminant criterion and local correlation information into the canonical correlation analysis (CCA) framework, giving a new feature fusion method, called Supervised Local CCA (SL-CCA), which caters specifically to local and global multimodal features. To alleviate the neighborhood selection problem associated with SL-CCA, we further propose a hierarchical SL-CCA (HSL-CCA), by performing SL-CCA with the gradually varying neighborhood sizes. Extensive experiments on the multimodal ABIDE database show that the proposed method achieves superior performance. In addition, based on feature weight analysis, we found that only a few specific brain regions play active roles in ASD diagnosis. These brain regions include the putamen, precuneus, and orbitofrontal cortex, which are highly associated with human emotional modulation and memory formation. These finding are consistent with the behavioral phenotype of ASD.

  14. A Hierarchical Feature and Sample Selection Framework and Its Application for Alzheimer’s Disease Diagnosis

    PubMed Central

    An, Le; Adeli, Ehsan; Liu, Mingxia; Zhang, Jun; Lee, Seong-Whan; Shen, Dinggang

    2017-01-01

    Classification is one of the most important tasks in machine learning. Due to feature redundancy or outliers in samples, using all available data for training a classifier may be suboptimal. For example, the Alzheimer’s disease (AD) is correlated with certain brain regions or single nucleotide polymorphisms (SNPs), and identification of relevant features is critical for computer-aided diagnosis. Many existing methods first select features from structural magnetic resonance imaging (MRI) or SNPs and then use those features to build the classifier. However, with the presence of many redundant features, the most discriminative features are difficult to be identified in a single step. Thus, we formulate a hierarchical feature and sample selection framework to gradually select informative features and discard ambiguous samples in multiple steps for improved classifier learning. To positively guide the data manifold preservation process, we utilize both labeled and unlabeled data during training, making our method semi-supervised. For validation, we conduct experiments on AD diagnosis by selecting mutually informative features from both MRI and SNP, and using the most discriminative samples for training. The superior classification results demonstrate the effectiveness of our approach, as compared with the rivals. PMID:28358032

  15. A Hierarchical Feature and Sample Selection Framework and Its Application for Alzheimer’s Disease Diagnosis

    NASA Astrophysics Data System (ADS)

    An, Le; Adeli, Ehsan; Liu, Mingxia; Zhang, Jun; Lee, Seong-Whan; Shen, Dinggang

    2017-03-01

    Classification is one of the most important tasks in machine learning. Due to feature redundancy or outliers in samples, using all available data for training a classifier may be suboptimal. For example, the Alzheimer’s disease (AD) is correlated with certain brain regions or single nucleotide polymorphisms (SNPs), and identification of relevant features is critical for computer-aided diagnosis. Many existing methods first select features from structural magnetic resonance imaging (MRI) or SNPs and then use those features to build the classifier. However, with the presence of many redundant features, the most discriminative features are difficult to be identified in a single step. Thus, we formulate a hierarchical feature and sample selection framework to gradually select informative features and discard ambiguous samples in multiple steps for improved classifier learning. To positively guide the data manifold preservation process, we utilize both labeled and unlabeled data during training, making our method semi-supervised. For validation, we conduct experiments on AD diagnosis by selecting mutually informative features from both MRI and SNP, and using the most discriminative samples for training. The superior classification results demonstrate the effectiveness of our approach, as compared with the rivals.

  16. Feature selection using genetic algorithm for breast cancer diagnosis: experiment on three different datasets.

    PubMed

    Aalaei, Shokoufeh; Shahraki, Hadi; Rowhanimanesh, Alireza; Eslami, Saeid

    2016-05-01

    This study addresses feature selection for breast cancer diagnosis. The present process uses a wrapper approach using GA-based on feature selection and PS-classifier. The results of experiment show that the proposed model is comparable to the other models on Wisconsin breast cancer datasets. To evaluate effectiveness of proposed feature selection method, we employed three different classifiers artificial neural network (ANN) and PS-classifier and genetic algorithm based classifier (GA-classifier) on Wisconsin breast cancer datasets include Wisconsin breast cancer dataset (WBC), Wisconsin diagnosis breast cancer (WDBC), and Wisconsin prognosis breast cancer (WPBC). For WBC dataset, it is observed that feature selection improved the accuracy of all classifiers expect of ANN and the best accuracy with feature selection achieved by PS-classifier. For WDBC and WPBC, results show feature selection improved accuracy of all three classifiers and the best accuracy with feature selection achieved by ANN. Also specificity and sensitivity improved after feature selection. The results show that feature selection can improve accuracy, specificity and sensitivity of classifiers. Result of this study is comparable with the other studies on Wisconsin breast cancer datasets.

  17. A Hierarchical Feature and Sample Selection Framework and Its Application for Alzheimer's Disease Diagnosis.

    PubMed

    An, Le; Adeli, Ehsan; Liu, Mingxia; Zhang, Jun; Lee, Seong-Whan; Shen, Dinggang

    2017-03-30

    Classification is one of the most important tasks in machine learning. Due to feature redundancy or outliers in samples, using all available data for training a classifier may be suboptimal. For example, the Alzheimer's disease (AD) is correlated with certain brain regions or single nucleotide polymorphisms (SNPs), and identification of relevant features is critical for computer-aided diagnosis. Many existing methods first select features from structural magnetic resonance imaging (MRI) or SNPs and then use those features to build the classifier. However, with the presence of many redundant features, the most discriminative features are difficult to be identified in a single step. Thus, we formulate a hierarchical feature and sample selection framework to gradually select informative features and discard ambiguous samples in multiple steps for improved classifier learning. To positively guide the data manifold preservation process, we utilize both labeled and unlabeled data during training, making our method semi-supervised. For validation, we conduct experiments on AD diagnosis by selecting mutually informative features from both MRI and SNP, and using the most discriminative samples for training. The superior classification results demonstrate the effectiveness of our approach, as compared with the rivals.

  18. [Osteoma and exostosis of the external auditory meatus: a clinical diagnosis].

    PubMed

    Granell, J; Puig, A; Benito, E

    2003-03-01

    Proliferative osseous lesions usually found in the external ear are exostoses and osteomata. In other sites they are clearly different entities, but in this location histopathologic differential features are not so reliable in the study of the specimens. An occlusive osteomata is shown, with the typical clinical presentation demonstrated in a multiplanar CT. Microscopically, the lesion consisted of mature bone trabeculae, separated by medular spaces with fibrovascular tissue, characteristic features of osteomata. However, in the most superficial areas, lines of bone apposition, like those in exostoses, were found. A literature review confirms the lack of specificity of the histopathologic study, so diagnosis is based on clinical data.

  19. Male breast cancer: clinical presentation, diagnosis, treatment.

    PubMed

    Hotko, Y S

    2013-12-01

    Despite male breast cancer is rare in occurrence, it is a serious problem. In 2012, 130 men in Ukraine got breast cancer that constituted 0.74% from all patients with mentioned pathology detected in the course of year. Every year in Ukraine approximately 100 men die from breast cancer. Still many aspects of male breast cancer remain unstudied. It occurs since information about mentioned disease is mainly based on retrospective analysis of small groups. Treatment of men, who got breast cancer, is based on knowledge, which has been obtained in treatment of women with this pathology. This article is based on the results of analysis of 168 cases of breast cancer in men, who have been examined and treated in the period from 1956 to 2012. In paper the peculiarities of clinical manifestations of male breast cancer have been determined, the optimal volume of diagnostic procedures in men with suspicion of breast cancer has been established, the mammographic signs have been detected and the possible histological variants of disease have been determined, clinical course peculiarities of male breast cancer have been defined, the most essential factors of prognosis of the disease have been fixed. Furthermore, in article optimal volume of surgical treatment of male breast cancer has been substantiated, the role and place of radiotherapy in treatment of this pathology has been determined. It has been proved that adjuvant polychemotherapy should be applied to the patients with male breast cancer independently from stage of process. Also optimal schemes of this kind of treatment have been determined. The efficacy of hormonal therapy with antiestrogen in patients with positive receptors of steroid hormones and at presence of unfavorable prognostic factors of disease has been demonstrated. The inefficiency of orchiectomy as one of the widespread kinds of hormonal therapy of male breast cancer has been defined.

  20. A novel deep autoencoder feature learning method for rotating machinery fault diagnosis

    NASA Astrophysics Data System (ADS)

    Shao, Haidong; Jiang, Hongkai; Zhao, Huiwei; Wang, Fuan

    2017-10-01

    The operation conditions of the rotating machinery are always complex and variable, which makes it difficult to automatically and effectively capture the useful fault features from the measured vibration signals, and it is a great challenge for rotating machinery fault diagnosis. In this paper, a novel deep autoencoder feature learning method is developed to diagnose rotating machinery fault. Firstly, the maximum correntropy is adopted to design the new deep autoencoder loss function for the enhancement of feature learning from the measured vibration signals. Secondly, artificial fish swarm algorithm is used to optimize the key parameters of the deep autoencoder to adapt to the signal features. The proposed method is applied to the fault diagnosis of gearbox and electrical locomotive roller bearing. The results confirm that the proposed method is more effective and robust than other methods.

  1. An Enhanced Grey Wolf Optimization Based Feature Selection Wrapped Kernel Extreme Learning Machine for Medical Diagnosis.

    PubMed

    Li, Qiang; Chen, Huiling; Huang, Hui; Zhao, Xuehua; Cai, ZhenNao; Tong, Changfei; Liu, Wenbin; Tian, Xin

    2017-01-01

    In this study, a new predictive framework is proposed by integrating an improved grey wolf optimization (IGWO) and kernel extreme learning machine (KELM), termed as IGWO-KELM, for medical diagnosis. The proposed IGWO feature selection approach is used for the purpose of finding the optimal feature subset for medical data. In the proposed approach, genetic algorithm (GA) was firstly adopted to generate the diversified initial positions, and then grey wolf optimization (GWO) was used to update the current positions of population in the discrete searching space, thus getting the optimal feature subset for the better classification purpose based on KELM. The proposed approach is compared against the original GA and GWO on the two common disease diagnosis problems in terms of a set of performance metrics, including classification accuracy, sensitivity, specificity, precision, G-mean, F-measure, and the size of selected features. The simulation results have proven the superiority of the proposed method over the other two competitive counterparts.

  2. [Mitochondrial diseases: molecular mechanisms, clinical presentations and diagnosis investigations].

    PubMed

    Auré, Karine; Jardel, Claude; Lombès, Anne

    2005-09-01

    Mitochondrial diseases are relatively common inherited metabolic diseases due to mitochondrial respiratory chain dysfunction. Their clinical presentation is extremely diverse, multisystemic or confined to a single tissue, sporadic or transmitted, by maternal or mendelian inheritance. The diagnosis of mitochondrial disorders is difficult. It is based upon several types of clues both clinical (family history, type of symptoms but also their association in syndromic presentation,...) and biological (alteration of the lactate metabolism, brain imaging, morphological alterations especially of muscle tissue). The diagnosis relies upon the demonstration of a defect of the respiratory chain activities and/or upon the identification of the underlying genetic alteration. Molecular diagnosis remains quite difficult and up to-date concerns essentially mitochondrial DNA mutations. On one hand, clinical and biological presentations as well as enzymatic defects lack specificity. On the other hand, candidate genes are very numerous and part of them are probably still unknown.

  3. A hybrid fuzzy-neural system for computer-aided diagnosis of ultrasound kidney images using prominent features.

    PubMed

    Bommanna Raja, K; Madheswaran, M; Thyagarajah, K

    2008-02-01

    The objective of this work is to develop and implement a computer-aided decision support system for an automated diagnosis and classification of ultrasound kidney images. The proposed method distinguishes three kidney categories namely normal, medical renal diseases and cortical cyst. For the each pre-processed ultrasound kidney image, 36 features are extracted. Two types of decision support systems, optimized multi-layer back propagation network and hybrid fuzzy-neural system have been developed with these features for classifying the kidney categories. The performance of the hybrid fuzzy-neural system is compared with the optimized multi-layer back propagation network in terms of classification efficiency, training and testing time. The results obtained show that fuzzy-neural system provides higher classification efficiency with minimum training and testing time. It has also been found that instead of using all 36 features, ranking the features enhance classification efficiency. The outputs of the decision support systems are validated with medical expert to measure the actual efficiency. The overall discriminating capability of the systems is accessed with performance evaluation measure, f-score. It has been observed that the performance of fuzzy-neural system is superior compared to optimized multi-layer back propagation network. Such hybrid fuzzy-neural system with feature extraction algorithms and pre-processing scheme helps in developing computer-aided diagnosis system for ultrasound kidney images and can be used as a secondary observer in clinical decision making.

  4. Canonical feature selection for joint regression and multi-class identification in Alzheimer’s disease diagnosis

    PubMed Central

    Zhu, Xiaofeng; Suk, Heung-Il

    2016-01-01

    Fusing information from different imaging modalities is crucial for more accurate identification of the brain state because imaging data of different modalities can provide complementary perspectives on the complex nature of brain disorders. However, most existing fusion methods often extract features independently from each modality, and then simply concatenate them into a long vector for classification, without appropriate consideration of the correlation among modalities. In this paper, we propose a novel method to transform the original features from different modalities to a common space, where the transformed features become comparable and easy to find their relation, by canonical correlation analysis. We then perform the sparse multi-task learning for discriminative feature selection by using the canonical features as regressors and penalizing a loss function with a canonical regularizer. In our experiments on the Alzheimer’s Disease Neuroimaging Initiative (ADNI) dataset, we use Magnetic Resonance Imaging (MRI) and Positron Emission Tomography (PET) images to jointly predict clinical scores of Alzheimer’s Disease Assessment Scale-Cognitive subscale (ADAS-Cog) and Mini-Mental State Examination (MMSE) and also identify multi-class disease status for Alzheimer’s disease diagnosis. The experimental results showed that the proposed canonical feature selection method helped enhance the performance of both clinical score prediction and disease status identification, outperforming the state-of-the-art methods. PMID:26254746

  5. [Proposal of criteria for clinical diagnosis of mild cognitive impairment, dementia and Alzheimer's disease].

    PubMed

    Robles, A; Del Ser, T; Alom, J; Peña-Casanova, J

    2002-01-01

    The most widely accepted criteria for Alzheimer's disease (AD) diagnosis (NINCDS-ADRDA and DSM-IV) do not allow to differentiate accurately between AD and other degenerative dementias which have recently formulated criteria for its clinical diagnosis. Therefore, it is necessary to bring AD diagnostic criteria up to date in order to optimise their specificity, by assessing its most specific clinical manifestations, its most representative markers and those features typical of other diseases which are usually taken into account for a differential diagnosis. According to the latest reports on the subject, the disturbances suffered by memory, behaviour and the rest of cognitive and executive functions must be equally considered when establishing the syndromic diagnosis of dementia; this will always require the coexistence of an evident functional impairment. Due to this, the concepts of "dementia" and "mild cognitive impairment" should be clearly distinguished. For the time being, AD can only be diagnosed when dementia has been proved and this shows a series of cognitive, behavioural and neurological features which are representative of it. Nevertheless, some diagnostic markers appear to be precocious and specific enough to try to identify those patients who suffer from mild cognitive impairment due to an incipient stage of AD. We are suggesting some criteria for the clinical diagnosis of dementia, mild cognitive impairment and AD that seem to be more detail

  6. Turner Syndrome Genotype and phenotype and their effect on presenting features and timing of Diagnosis

    PubMed Central

    Al Alwan, I; M, Khadora; Amir; G, Nasrat; A, Omair; L, Brown; M, Al Dubayee; M, Badri

    2014-01-01

    Background Turner syndrome (TS) is a common genetic disorder caused by abnormalities of the X chromosome. We aimed to describe the phenotypic characteristics of TS patients and evaluate their association with presenting clinical characteristics and time at diagnosis. Methods We studied females diagnosed with TS at King Abdul Aziz Medical City (KAMC), Riyadh between 1983 and 2010. Patients were classified based upon karyotype into females with classical monosomy 45,X (group A) and females with other X chromosome abnormalities (mosaic 45,X/46,XX, Xqisochromosomes, Xp or Xq deletion) (group B). Clinical features of the two groups were analyzed. Results Of the 52 patients included in the study, 16(30.8%) were diagnosed with classical monosomy 45,X and the rest with other X chromosome abnormalities. Only 19(36.5%) patients were diagnosed in infancy and the remaining during childhood or later (odds ratio (OR) = 4.5,95%CI 1.27–15.90, p=0.02). Short stature was universal in group A versus 77.8% in group B. All patients in group A had primary amenorrhea compared with 63.2% of those in group B (P = 0.04); the rest of group B had secondary amenorrhea. Cardiovascular abnormalities were higher in group A (OR=3.50, 95%CI 0.99–12.29, p-value =0.05). Renal defects and recurrent otitis media were similar in both groups. Conclusion This study suggests that karyotype variations might affect the phenotype of TS; however, it may not reliably predict the clinical presentation. Chromosomal analysis for all suspected cases of TS should be promptly done at childhood in order to design an appropriate management plan early in life. PMID:25246887

  7. Turner Syndrome Genotype and phenotype and their effect on presenting features and timing of Diagnosis.

    PubMed

    Al Alwan, I; M, Khadora; Amir; G, Nasrat; A, Omair; L, Brown; M, Al Dubayee; M, Badri

    2014-04-01

    Turner syndrome (TS) is a common genetic disorder caused by abnormalities of the X chromosome. We aimed to describe the phenotypic characteristics of TS patients and evaluate their association with presenting clinical characteristics and time at diagnosis. We studied females diagnosed with TS at King Abdul Aziz Medical City (KAMC), Riyadh between 1983 and 2010. Patients were classified based upon karyotype into females with classical monosomy 45,X (group A) and females with other X chromosome abnormalities (mosaic 45,X/46,XX, Xqisochromosomes, Xp or Xq deletion) (group B). Clinical features of the two groups were analyzed. Of the 52 patients included in the study, 16(30.8%) were diagnosed with classical monosomy 45,X and the rest with other X chromosome abnormalities. Only 19(36.5%) patients were diagnosed in infancy and the remaining during childhood or later (odds ratio (OR) = 4.5,95%CI 1.27-15.90, p=0.02). Short stature was universal in group A versus 77.8% in group B. All patients in group A had primary amenorrhea compared with 63.2% of those in group B (P = 0.04); the rest of group B had secondary amenorrhea. Cardiovascular abnormalities were higher in group A (OR=3.50, 95%CI 0.99-12.29, p-value =0.05). Renal defects and recurrent otitis media were similar in both groups. This study suggests that karyotype variations might affect the phenotype of TS; however, it may not reliably predict the clinical presentation. Chromosomal analysis for all suspected cases of TS should be promptly done at childhood in order to design an appropriate management plan early in life.

  8. The clinical and genetic features of Huntington disease.

    PubMed

    Sturrock, Aaron; Leavitt, Blair R

    2010-12-01

    Huntington disease (HD) is a dominantly inherited neurodegenerative disorder that usually presents in adulthood with characteristic motor and cognitive features and with variable and diverse psychiatric disturbances. Following the discovery of the causative defect in the HTT gene in 1993, great advances in understanding the pathogenesis of HD have been made, yet no effective disease-modifying therapy has been identified. In this new era of HD research, we have seen the emergence of a number of large clinical trials, the systematic search for novel biomarkers and the recent initiation of the first pre-manifest HD clinical studies. In this review, we seek to provide an overview of the clinical and genetic features of HD together with a summary of clinical research at this time.

  9. Basic clinical and laboratory features of filoviral hemorrhagic fever.

    PubMed

    Kortepeter, Mark G; Bausch, Daniel G; Bray, Mike

    2011-11-01

    The filoviruses Marburg and Ebola cause severe hemorrhagic fever (HF) in humans. Beginning with the 1967 Marburg outbreak, 30 epidemics, isolated cases, and accidental laboratory infections have been described in the medical literature. We reviewed those reports to determine the basic clinical and laboratory features of filoviral HF. The most detailed information was found in descriptions of patients treated in industrialized countries; except for the 2000 outbreak of Ebola Sudan HF in Uganda, reports of epidemics in central Africa provided little controlled or objective clinical data. Other than the case fatality rate, there were no clear differences in the features of the various filovirus infections. This compilation will be of value to medical workers responding to epidemics and to investigators attempting to develop animal models of filoviral HF. By identifying key unanswered questions and gaps in clinical data, it will help guide clinical research in future outbreaks.

  10. Nonalcoholic Steatohepatitis: Clinical Presentation, Diagnosis, and Treatment

    PubMed Central

    Stengel, Joel Z.; Harrison, Stephen A.

    2006-01-01

    Nonalcoholic fatty liver disease (NAFLD) is reaching epidemic proportions in our society and is the most common etiology for patients presenting with elevated liver enzymes. Given the significant numbers of patients presenting with NAFLD, it is important to distinguish between simple fatty liver and nonalcoholic steatohepatitis (NASH). Whereas simple fatty liver is thought to have a benign prognosis generally, NASH may progress to cirrhosis in a subset of patients. Performance of liver biopsies in all NAFLD patients is not feasible but recent studies have identified several clinical factors that may predict the patients at greatest risk for NASH and advanced fibrosis, and thus biopsy procedures may be confined to the patients meeting these criteria. Treatment remains focused on improving the underlying insulin resistance that is invariably present in the majority of patients. Diet and exercise remain the cornerstone of therapy, but insulin-sensitizing medication and other agents aimed at reducing oxidative stress or fibrosis may be considered as further studies demonstrating efficacy become available. PMID:28316519

  11. Fault diagnosis of bearings based on a sensitive feature decoupling technique

    NASA Astrophysics Data System (ADS)

    Li, Wei; Jiang, Fan; Zhu, Zhencai; Zhou, Gongbo; Chen, Guoan

    2013-03-01

    Bearings are commonly used in machine industry, and their faults may result in unexpected vibration and even cause breakdown of a whole rotating machine. This paper proposes a novel fault diagnosis approach for bearings by using a sensitive feature decoupling technique. This approach does not require a training procedure as in machine learning methods and can classify the occurred faults by a simple algebraic computation. Firstly, the features of vibration signals which show the most significant difference under different bearing health conditions are selected and defined as sensitive features. Then those sensitive features under different health conditions are used to construct a feature matrix, and its left null space is computed to obtain the so-called feature decoupling vectors. The bearing faults are finally classified with the help of the decoupling vectors according to a simple decision logic. Since the obtained decoupling vectors may not be unique, we also propose an algorithm to select the optimal ones in order to improve the performance of fault diagnosis. Experiments are carried out to test the proposed approach and the results show that the approach is feasible and effective for the fault diagnosis of bearings.

  12. Childhood acute leukemia in West Bengal, India with an emphasis on uncommon clinical features.

    PubMed

    Biswas, Saumitra; Chakrabarti, Sudipta; Chakraborty, Jayati; Paul, Prabir Chandra; Konar, Abantika; Das, Shikha

    2009-01-01

    Leukemias are the commonest childhood malignancy in West Bengal. This study was undertaken on 75 children at NRS Medical College, West Bengal to determine the distribution of signs and symptoms of leukemia and to identify unusual clinical features. After obtaining clinical history, physical examination, hematological and radiological investigations were performed. Acute lymphoblastic leukaemia (ALL, 72%) was the commonest followed by acute myeloid leukaemia (AML, 18.7%). Common symptoms and signs were fever (85.3%), pallor (64%), hepatomegaly (72%), splenomegaly (60%) and lymphadenopathy (50.7%). The uncommon signs and symptoms were abdominal pain (9.3%), joint pain (9.3%), hematemesis and malena (8%), diarrhea (5.3%), proptosis (2 cases), dysphagia, mediastinal mass and parotid swelling (1 case each). Uncommon clinical presentations lead to delay in diagnosis in some cases. Awareness of uncommon signs and symptoms of childhood leukemia together with laboratory tests may help in earlier diagnosis and proper management of the patients.

  13. The clinical manifestations, diagnosis, and treatment of adrenal emergencies.

    PubMed

    Tucci, Veronica; Sokari, Telematé

    2014-05-01

    Emergency medicine physicians should be able to identify and treat patients whose clinical presentations, including key historical, physical examination, and laboratory findings are consistent with diagnoses of primary, secondary, and tertiary adrenal insufficiency, adrenal crisis, and pheochromocytoma. Failure to make a timely diagnosis leads to increased morbidity and mortality. As great mimickers, adrenal emergencies often present with a constellation of nonspecific signs and symptoms that can lead even the most diligent emergency physician astray. The emergency physician must include adrenal emergencies in the differential diagnosis when encountering such clinical pictures. Copyright © 2014 Elsevier Inc. All rights reserved.

  14. A hybrid feature selection method using multiclass SVM for diagnosis of erythemato-squamous disease

    NASA Astrophysics Data System (ADS)

    Maryam, Setiawan, Noor Akhmad; Wahyunggoro, Oyas

    2017-08-01

    The diagnosis of erythemato-squamous disease is a complex problem and difficult to detect in dermatology. Besides that, it is a major cause of skin cancer. Data mining implementation in the medical field helps expert to diagnose precisely, accurately, and inexpensively. In this research, we use data mining technique to developed a diagnosis model based on multiclass SVM with a novel hybrid feature selection method to diagnose erythemato-squamous disease. Our hybrid feature selection method, named ChiGA (Chi Square and Genetic Algorithm), uses the advantages from filter and wrapper methods to select the optimal feature subset from original feature. Chi square used as filter method to remove redundant features and GA as wrapper method to select the ideal feature subset with SVM used as classifier. Experiment performed with 10 fold cross validation on erythemato-squamous diseases dataset taken from University of California Irvine (UCI) machine learning database. The experimental result shows that the proposed model based multiclass SVM with Chi Square and GA can give an optimum feature subset. There are 18 optimum features with 99.18% accuracy.

  15. 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.

  16. Eccrine Porocarcinoma: Patient Characteristics, Clinical and Histopathologic Features, and Treatment in 7 Cases.

    PubMed

    Gómez-Zubiaur, A; Medina-Montalvo, S; Vélez-Velázquez, M D; Polo-Rodríguez, I

    2017-05-01

    Eccrine porocarcinoma is a rare, malignant cutaneous adnexal tumor that arises from the ducts of sweat glands. Found mainly in patients of advanced age, this tumor has diverse clinical presentations. Histology confirms the diagnosis, detects features relevant to prognosis, and guides treatment. Growth is slow, but the prognosis is poor if the tumor metastasizes to lymph nodes or visceral organs. We report 7 cases of eccrine porocarcinoma, describing patient characteristics, the clinical and histopathologic features of the tumors, and treatments used. Our observations were similar to those of other published case series. Given the lack of therapeutic algorithms or protocols for this carcinoma, we propose a decision-making schema based on our review of the literature and our experience with this case series. The algorithm centers on sentinel lymph node biopsy and histologic features. Copyright © 2016 AEDV. Publicado por Elsevier España, S.L.U. All rights reserved.

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

    PubMed

    Zhou, Yaoyao; Zhang, Junfeng

    2014-09-20

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

  18. Diesel Engine Valve Clearance Fault Diagnosis Based on Features Extraction Techniques and FastICA-SVM

    NASA Astrophysics Data System (ADS)

    Jing, Ya-Bing; Liu, Chang-Wen; Bi, Feng-Rong; Bi, Xiao-Yang; Wang, Xia; Shao, Kang

    2017-07-01

    Numerous vibration-based techniques are rarely used in diesel engines fault diagnosis in a direct way, due to the surface vibration signals of diesel engines with the complex non-stationary and nonlinear time-varying features. To investigate the fault diagnosis of diesel engines, fractal correlation dimension, wavelet energy and entropy as features reflecting the diesel engine fault fractal and energy characteristics are extracted from the decomposed signals through analyzing vibration acceleration signals derived from the cylinder head in seven different states of valve train. An intelligent fault detector FastICA-SVM is applied for diesel engine fault diagnosis and classification. The results demonstrate that FastICA-SVM achieves higher classification accuracy and makes better generalization performance in small samples recognition. Besides, the fractal correlation dimension and wavelet energy and entropy as the special features of diesel engine vibration signal are considered as input vectors of classifier FastICA-SVM and could produce the excellent classification results. The proposed methodology improves the accuracy of feature extraction and the fault diagnosis of diesel engines.

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

    ERIC Educational Resources Information Center

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

    2011-01-01

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

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

    ERIC Educational Resources Information Center

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

    2011-01-01

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

  1. Multiple sclerosis with clinical and radiological features of cerebral tumour

    PubMed Central

    Sagar, HJ; Warlow, CP; Sheldon, PWE; Esiri, MM

    1982-01-01

    Three cases of multiple sclerosis, all confirmed pathologically, are described in whom both the unusual clinical features and the CT scan appearances suggested cerebral tumours. The failure of mass effect reliably to differentiate plaques and tumours on a CT scan is stressed and the literature relating to CT scanning in multiple sclerosis is reviewed. Images PMID:7131013

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

    ERIC Educational Resources Information Center

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

    2005-01-01

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

  3. Skin lesion computational diagnosis of dermoscopic images: Ensemble models based on input feature manipulation.

    PubMed

    Oliveira, Roberta B; Pereira, Aledir S; Tavares, João Manuel R S

    2017-10-01

    The number of deaths worldwide due to melanoma has risen in recent times, in part because melanoma is the most aggressive type of skin cancer. Computational systems have been developed to assist dermatologists in early diagnosis of skin cancer, or even to monitor skin lesions. However, there still remains a challenge to improve classifiers for the diagnosis of such skin lesions. The main objective of this article is to evaluate different ensemble classification models based on input feature manipulation to diagnose skin lesions. Input feature manipulation processes are based on feature subset selections from shape properties, colour variation and texture analysis to generate diversity for the ensemble models. Three subset selection models are presented here: (1) a subset selection model based on specific feature groups, (2) a correlation-based subset selection model, and (3) a subset selection model based on feature selection algorithms. Each ensemble classification model is generated using an optimum-path forest classifier and integrated with a majority voting strategy. The proposed models were applied on a set of 1104 dermoscopic images using a cross-validation procedure. The best results were obtained by the first ensemble classification model that generates a feature subset ensemble based on specific feature groups. The skin lesion diagnosis computational system achieved 94.3% accuracy, 91.8% sensitivity and 96.7% specificity. The input feature manipulation process based on specific feature subsets generated the greatest diversity for the ensemble classification model with very promising results. Copyright © 2017 Elsevier B.V. All rights reserved.

  4. Dermoscopy of verrucous epidermal nevus: large brown circles as a novel feature for diagnosis.

    PubMed

    Carbotti, Mattia; Coppola, Rosa; Graziano, Antonio; Verona Rinati, Maria; Paolilli, Francesco Luigi; Zanframundo, Salvatore; Panasiti, Vincenzo

    2016-06-01

    The epidermal nevus is a hamartomatous proliferation of the epithelium that can involve keratinocytes, sebaceous glands, the pilosebaceous unit, and eccrine or apocrine glands. It occurs in one in 1000 live births and most commonly presents as the verrucous type. Dermoscopy is a non-invasive technique commonly used to differentiate between melanocytic and non-melanocytic lesions. This study was performed to analyze dermoscopic aspects of verrucous epidermal nevi, which have not previously been described. Dermoscopic analyses of eight different verrucous epidermal nevi were conducted. Each lesion was excised, and its diagnosis was histopathologically confirmed. In non-melanocytic lesions, a new dermoscopic feature of large brown circles was observed. This characteristic is useful in the diagnosis of verrucous epidermal nevi. Large brown circles represent a specific dermoscopic feature for the diagnosis of verrucous epidermal nevus. © 2015 The International Society of Dermatology.

  5. Diagnosis and investigation in the severe asthma clinic.

    PubMed

    Wark, Peter A B; Hew, Mark; Maltby, Steven; McDonald, Vanessa M; Gibson, Peter G

    2016-01-01

    Severe asthma is recognised as an important and emerging area of unmet need in asthma. The assessment of severe asthma should include three steps; (1) determining the diagnosis of asthma, including verification that the disease is severe asthma, (2) assessing comorbidities and contributing factors that will impact on clinical severity, as well as (3) assessing asthma phenotypes. These steps recognize the importance of heterogeneity in asthma as a key factor that determines the disease course and increasingly the choice of successful therapy. This assessment should be undertaken systematically and is best done by an expert multidisciplinary team. Here, we will outline the important aspects that should be included in the clinical assessment of the patient in the severe asthma clinic, including diagnosis, clinical history, the assessment of important comorbidities and the key investigations needed to support them.

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

    PubMed

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

    1994-04-01

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

  7. The clinical features of ankle syndesmosis injuries: a general review.

    PubMed

    Kellett, John J

    2011-11-01

    To review the research conclusions relating to clinical aspects of syndesmosis, the incidence and prognosis of syndesmosis injuries, and the effectiveness of the history and clinical examination to reliably diagnose ankle syndesmosis injury. Google Scholar search: Syndesmosis paired with incidence, prognosis, history, and examination in turn. There was no time limit for the search. Articles were selected by reading titles, abstracts, and the full article, if indicated, seeking original articles determining these clinical aspects of syndesmosis injuries. Further articles were derived from the references of the primary articles. The prognosis for isolated syndesmosis injuries, including the time to functional recovery, is unknown. The incidence of acute syndesmosis injury in moderate to severe ankle injuries requiring imaging is of the order of 5%. Historical features and special clinical tests of syndesmosis injury have not been proven reliable by clinical studies using evidence-based diagnostic criteria. Acute local tenderness of the anterior inferior tibiofibular ligament will indicate significant syndesmosis injury in only approximately half of nonspecific ankle injuries. There is limited, evidence-based, standard, published literature from which to draw conclusions regarding the validity or reliability of various clinical special tests for syndesmosis injury. Literature assessing the incidence, prognosis, and clinical features is generally not based on definitively confirmed syndesmosis injuries, which is a critical aspect of evidence-based medicine before valid conclusions can be drawn.

  8. Peri-implantitis in a specialist clinic of periodontology. Clinical features and risk indicators.

    PubMed

    Carcuac, Olivier; Jansson, Leif

    2010-01-01

    Implant therapy has become a widely recognized treatment alternative for replacing missing teeth. Several long term follow-up studies have shown that the survival rate is high. However, complications may appear and risk indcators associated with early and late failures have been identified. The purpose of the present retrospective clinical study was to describe some clinical features of patients with clinical signs of peri-implantitis and to identify risk indicators of peri-implantitis in a population at a specialist clinic of Periodontology. In total,the material consisted of 377 implants in 111 patients with the diagnosis peri-implantitis. The mean age at the examination was found to be 56.3 years (range 22-83) for females and 64.1 years (range 27-85) for males. The mean number of remaining teeth was found to be 10.5 (S.D. 8.89) and the mean number of implants was 5.85 (S.D. 3.42). For a majority of the subjects, more than 50% of the remaining teeth had a marginal bone loss of more than 1/3 of the root length. Forty-sex percent of the patients visited regularly dental hygienists for supportive treatment. The percentage of implants with peri-implantitis was significantly increased for smokers compared to non-smokers (p = 0.04). In the group of non-smokers, 64% of the implants had the diagnosis peri-implantitis, while the corresponding relative frequency for smokers was 78%. A majority of the individuals had a Plaque index and Bleeding on probing index >50%. The median of the follow-up time after implant placement was 7.4 years and the observation period was not significantly correlated to the degree of bone loss around the implants. Among the subjects with a mean bone loss >6 mm at implants with peri-implantitis, more than 70% had a mean marginal bone loss > 1/3 of the root length of the remaining teeth. A positive and significant correlation was found between the degree of marginal bone loss in remaining teeth and the degree of bone loss around implants with peri

  9. [Clinical features of pediatric multiple sclerosis: epidemiology and treatment].

    PubMed

    Torisu, Hiroyuki; Hara, Toshiro

    2014-11-01

    Multiple sclerosis (MS) in children is essentially not different from MS in adults; however, in children, it is sometimes difficult to distinguish MS from other demyelinating diseases. The main reason for this is that acute encephalitis/encephalopathy associated with infectious diseases, especially acute disseminated encephalomyelitis (ADEM), often causes demyelinating events in the central nervous system in childhood, and that the demyelinating episodes of MS in younger children clinically resemble ADEM events. Therefore, a number of studies on pediatric demyelinating diseases have been conducted to elucidate the clinical features of pediatric MS. In this article, the clinical features of pediatric MS in Japan were reviewed on the basis of the results of a nationwide survey as well as those in other countries.

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

    PubMed

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

    2013-01-01

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

  11. Incorporating clinical metadata with digital image features for automated identification of cutaneous melanoma.

    PubMed

    Liu, Z; Sun, J; Smith, M; Smith, L; Warr, R

    2013-11-01

    Computer-assisted diagnosis (CAD) of malignant melanoma (MM) has been advocated to help clinicians to achieve a more objective and reliable assessment. However, conventional CAD systems examine only the features extracted from digital photographs of lesions. Failure to incorporate patients' personal information constrains the applicability in clinical settings. To develop a new CAD system to improve the performance of automatic diagnosis of melanoma, which, for the first time, incorporates digital features of lesions with important patient metadata into a learning process. Thirty-two features were extracted from digital photographs to characterize skin lesions. Patients' personal information, such as age, gender and, lesion site, and their combinations, was quantified as metadata. The integration of digital features and metadata was realized through an extended Laplacian eigenmap, a dimensionality-reduction method grouping lesions with similar digital features and metadata into the same classes. The diagnosis reached 82.1% sensitivity and 86.1% specificity when only multidimensional digital features were used, but improved to 95.2% sensitivity and 91.0% specificity after metadata were incorporated appropriately. The proposed system achieves a level of sensitivity comparable with experienced dermatologists aided by conventional dermoscopes. This demonstrates the potential of our method for assisting clinicians in diagnosing melanoma, and the benefit it could provide to patients and hospitals by greatly reducing unnecessary excisions of benign naevi. This paper proposes an enhanced CAD system incorporating clinical metadata into the learning process for automatic classification of melanoma. Results demonstrate that the additional metadata and the mechanism to incorporate them are useful for improving CAD of melanoma. © 2013 British Association of Dermatologists.

  12. [Minimal hepatic encephalopathy: characteristics, diagnosis and clinical implications].

    PubMed

    Torre Delgadillo, Aldo; Guerrero-Hernández, Ignacio; Uribe, Misael

    2006-01-01

    The term minimal hepatic encephalopathy (MHE) refers to the subtle changes in cognitive function, electrophysiological parameters, cerebral neurochemical/neurotransmitter homeostasis, cerebral blood flow, metabolism, and fluid homeostasis that can be observed in patients with cirrhosis who have no clinical evidence of hepatic encephalopathy; the prevalence is as high as 84% in patients with hepatic cirrhosis. This cirrhosis complication is generally not perceived by physician, and diagnosis can only be made by neuropsychological tests and other especial measurements like evoked potentials and image studies like positron emission tomography. Diagnosis of minimal hepatic encephalopathy may have prognostic and therapeutic implications in cirrhotic patients. The present review pretends to explore the clinic, therapeutic, diagnosis and prognostic aspects of this complication.

  13. Clinical features distinguishing grief from depressive episodes: A qualitative analysis.

    PubMed

    Parker, Gordon; McCraw, Stacey; Paterson, Amelia

    2015-05-01

    The independence or interdependence of grief and major depression has been keenly argued in relation to recent DSM definitions and encouraged the current study. We report a phenomenological study seeking to identify the experiential and phenomenological differences between depression and grief as judged qualitatively by those who had experienced clinical (n=125) or non-clinical depressive states (n=28). Analyses involving the whole sample indicated that, in contrast to grief, depression involved feelings of hopelessness and helplessness, being endless and was associated with a lack of control, having an internal self-focus impacting on self-esteem, being more severe and stressful, being marked by physical symptoms and often lacking a justifiable cause. Grief was distinguished from depression by the individual viewing their experience as natural and to be expected, a consequence of a loss, and with an external focus (i.e. the loss of the other). Some identified differences may have reflected the impact of depressive "type" (e.g. melancholia) rather than depression per se, and argue for a two-tiered model differentiating normative depressive and grief states at their base level and then "clinical" depressive and 'pathological' grief states by their associated clinical features. Comparative analyses between the clinical and non-clinical groups were limited by the latter sub-set being few in number. The provision of definitions may have shaped subjects׳ nominated differentiating features. The study identified a distinct number of phenomenological and clinical differences between grief and depression and few shared features, but more importantly, argued for the development of a two-tiered model defining both base states and clinical expressions. Copyright © 2015 Elsevier B.V. All rights reserved.

  14. Clinical presentation, diagnosis, and prognosis of chronic laminitis.

    PubMed

    Herthel, D; Hood, D M

    1999-08-01

    This article focuses on the initial assessment of the horse affected with chronic laminitis. Variations in the clinical presentation and primary considerations in making a differential diagnosis are included. The elements of a clinical history essential to sound, therapeutic management, and prognosis are summarized. The physical and radiographic assessment of the digital lesions and diagnostic approaches to the common systemic aspects of the disease are presented and discussed.

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

    PubMed

    Ogata, Katsuhisa

    2016-03-01

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

  16. Automatic feature learning using multichannel ROI based on deep structured algorithms for computerized lung cancer diagnosis.

    PubMed

    Sun, Wenqing; Zheng, Bin; Qian, Wei

    2017-04-13

    This study aimed to analyze the ability of extracting automatically generated features using deep structured algorithms in lung nodule CT image diagnosis, and compare its performance with traditional computer aided diagnosis (CADx) systems using hand-crafted features. All of the 1018 cases were acquired from Lung Image Database Consortium (LIDC) public lung cancer database. The nodules were segmented according to four radiologists' markings, and 13,668 samples were generated by rotating every slice of nodule images. Three multichannel ROI based deep structured algorithms were designed and implemented in this study: convolutional neural network (CNN), deep belief network (DBN), and stacked denoising autoencoder (SDAE). For the comparison purpose, we also implemented a CADx system using hand-crafted features including density features, texture features and morphological features. The performance of every scheme was evaluated by using a 10-fold cross-validation method and an assessment index of the area under the receiver operating characteristic curve (AUC). The observed highest area under the curve (AUC) was 0.899±0.018 achieved by CNN, which was significantly higher than traditional CADx with the AUC=0.848±0.026. The results from DBN was also slightly higher than CADx, while SDAE was slightly lower. By visualizing the automatic generated features, we found some meaningful detectors like curvy stroke detectors from deep structured schemes. The study results showed the deep structured algorithms with automatically generated features can achieve desirable performance in lung nodule diagnosis. With well-tuned parameters and large enough dataset, the deep learning algorithms can have better performance than current popular CADx. We believe the deep learning algorithms with similar data preprocessing procedure can be used in other medical image analysis areas as well. Copyright © 2017. Published by Elsevier Ltd.

  17. Evidence-Based Diagnosis: Incorporating Diagnostic Instruments into Clinical Practice

    ERIC Educational Resources Information Center

    Doss, Amanda Jensen

    2005-01-01

    This article is intended to serve as a practical guide for practitioners interested in incorporating evidence-based diagnosis (EBD) instruments into their clinical practices to refine the diagnostic process. Three measures are used to illustrate this process, the DISC-IV (Shaffer et al., 2000), the Schedule for Affective Disorders and…

  18. Hopelessness, Depression, Suicidal Ideation, and Clinical Diagnosis of Depression.

    ERIC Educational Resources Information Center

    Beck, Aaron T.; And Others

    1993-01-01

    Examined relevance of clinical diagnosis of depression for explaining discrepant relationships of hopelessness and depression with suicidal ideation. Administered Beck Depression Inventory, Hopelessness Scale, and Scale for Suicide Ideation to 1,306 patients with mood disorder and 488 patients without mood disorder. Found that hopelessness was 1.3…

  19. Integrating Preclinical and Clinical Oral Diagnosis and Radiology.

    ERIC Educational Resources Information Center

    Rhodus, Nelson L.; Brand, John W.

    1988-01-01

    A program providing second-year dental students with early experience in direct patient contact in an oral diagnosis/oral radiology clinic was well received by both students and faculty and was found to develop desirable skills and qualities in the students participating. (MSE)

  20. Integrating Preclinical and Clinical Oral Diagnosis and Radiology.

    ERIC Educational Resources Information Center

    Rhodus, Nelson L.; Brand, John W.

    1988-01-01

    A program providing second-year dental students with early experience in direct patient contact in an oral diagnosis/oral radiology clinic was well received by both students and faculty and was found to develop desirable skills and qualities in the students participating. (MSE)

  1. Rules for clinical diagnosis in babies with ambiguous genitalia.

    PubMed

    Low, Y; Hutson, J M

    2003-08-01

    Intersex disorders are rare and complex; yet, in each case of genital ambiguity, accurate and expeditious management is required of the clinician. This article reviews the embryology of sexual differentiation, from which some 'rules' of diagnosis are derived. A simplified approach to the interpretation of clinical signs in ambiguous genitalia is presented and discussed.

  2. Hopelessness, Depression, Suicidal Ideation, and Clinical Diagnosis of Depression.

    ERIC Educational Resources Information Center

    Beck, Aaron T.; And Others

    1993-01-01

    Examined relevance of clinical diagnosis of depression for explaining discrepant relationships of hopelessness and depression with suicidal ideation. Administered Beck Depression Inventory, Hopelessness Scale, and Scale for Suicide Ideation to 1,306 patients with mood disorder and 488 patients without mood disorder. Found that hopelessness was 1.3…

  3. Anti-N-methyl-d-aspartate receptor encephalitis: review of clinical presentation, diagnosis and treatment

    PubMed Central

    Barry, Helen; Byrne, Susan; Barrett, Elizabeth; Murphy, Kieran C.; Cotter, David R.

    2015-01-01

    Anti-N-methyl-d-aspartate (NMDA) receptor encephalitis is a form of encephalitis occurring primarily in women and associated with antibodies against NR1 or NR2 subunits of the NMDA receptor. As a potentially treatable differential for symptoms and signs seen in neurology and psychiatric clinics, clinicians practising across the lifespan should be aware of this form of encephalitis. Common clinical features include auditory and visual hallucinations, delusions, behavioural change (frequently with agitation), impaired consciousness, motor disturbance (ranging from dyskinesia to catatonia), seizures, and autonomic dysfunction. We present a review of the literature on the disorder, including its clinical presentation, differential diagnosis, epidemiology, treatment and prognosis. PMID:26191419

  4. Anti-N-methyl-d-aspartate receptor encephalitis: review of clinical presentation, diagnosis and treatment.

    PubMed

    Barry, Helen; Byrne, Susan; Barrett, Elizabeth; Murphy, Kieran C; Cotter, David R

    2015-02-01

    Anti-N-methyl-d-aspartate (NMDA) receptor encephalitis is a form of encephalitis occurring primarily in women and associated with antibodies against NR1 or NR2 subunits of the NMDA receptor. As a potentially treatable differential for symptoms and signs seen in neurology and psychiatric clinics, clinicians practising across the lifespan should be aware of this form of encephalitis. Common clinical features include auditory and visual hallucinations, delusions, behavioural change (frequently with agitation), impaired consciousness, motor disturbance (ranging from dyskinesia to catatonia), seizures, and autonomic dysfunction. We present a review of the literature on the disorder, including its clinical presentation, differential diagnosis, epidemiology, treatment and prognosis.

  5. A hybrid fault diagnosis approach based on mixed-domain state features for rotating machinery.

    PubMed

    Xue, Xiaoming; Zhou, Jianzhong

    2017-01-01

    To make further improvement in the diagnosis accuracy and efficiency, a mixed-domain state features data based hybrid fault diagnosis approach, which systematically blends both the statistical analysis approach and the artificial intelligence technology, is proposed in this work for rolling element bearings. For simplifying the fault diagnosis problems, the execution of the proposed method is divided into three steps, i.e., fault preliminary detection, fault type recognition and fault degree identification. In the first step, a preliminary judgment about the health status of the equipment can be evaluated by the statistical analysis method based on the permutation entropy theory. If fault exists, the following two processes based on the artificial intelligence approach are performed to further recognize the fault type and then identify the fault degree. For the two subsequent steps, mixed-domain state features containing time-domain, frequency-domain and multi-scale features are extracted to represent the fault peculiarity under different working conditions. As a powerful time-frequency analysis method, the fast EEMD method was employed to obtain multi-scale features. Furthermore, due to the information redundancy and the submergence of original feature space, a novel manifold learning method (modified LGPCA) is introduced to realize the low-dimensional representations for high-dimensional feature space. Finally, two cases with 12 working conditions respectively have been employed to evaluate the performance of the proposed method, where vibration signals were measured from an experimental bench of rolling element bearing. The analysis results showed the effectiveness and the superiority of the proposed method of which the diagnosis thought is more suitable for practical application. Copyright © 2016 ISA. Published by Elsevier Ltd. All rights reserved.

  6. A multicenter study of the clinical features of allergic rhinitis in central China.

    PubMed

    Chen, Jianjun; Zhao, Yan; Li, Bin; Zhang, Quanming; Wan, Lijia; Liu, Jun; Tian, Xingde; Li, Guoyi; Zhou, Jie; Zhang, Long; Wang, Pengju; Cheng, Qi; Liang, Jianwei; Zhao, Ping; He, Jingpei; Lou, Zhihong; Lu, Haitao; Zhou, Yi; Zhang, Yuanfen; Chen, Xiangjun; Pan, Fangming; Zhang, Zhimao; Zeng, Ligang; He, Benchao; Zeng, Ying; Xu, Xiaoyan; Kong, Weijia

    2014-01-01

    Several epidemiological surveys of allergic rhinitis (AR) have been conducted in China. However, the clinical features of AR are still not clear enough. The aim of the current study was to perform a multicenter investigation to evaluate the clinical features of AR in China. A multicenter investigation was performed in 13 allergy centers in central China. A disease-related questionnaire was completed by each patient themselves or with guardian assistance after the diagnosis of AR. The clinical features of AR and allergen profile were analyzed. Eleven thousand four patients who were diagnosed with AR were recruited in this study. The percentages of classification of AR according to the Allergic Rhinitis and Its Impact on Asthma guidelines were 9.7% intermittent mild (IM), 3.1% persistent mild (PM), 33.9% intermittent moderate-severe (IMS), and 53.3% persistent moderate-severe (PMS). There were 61.6 and 42.2% AR patients who had concomitant ocular or lower respiratory symptoms in clinic. The occurrence of ocular and lower respiratory symptoms was found to be gradually increased from IM, PM, and IMS to PMS. Cold air and temperature change were the two most common factors triggering the nasal symptoms. Dermatophagoides pteronyssinus and Dermatophagoides farinae were the most important allergens of central China. This study has contributed to a better understanding of clinical features of AR in China.

  7. [Clinical and radiological diagnosis of community-acquired pneumonia in adults].

    PubMed

    Gil D, Rodrigo; Fernández V, Patricia; Sabbagh P, Eduardo

    2005-01-01

    Community acquired pneumonia in adults is an acute disease characterized by worsening in general conditions, fever, chills, cough, mucopurulent sputum and dyspnea; associated with tachycardia, tachypnea, fever and focal signs in pulmonary examination. The probability of pneumonia in a patient with acute respiratory symptoms depends on the disease prevalence in the environment where it is acquired and on clinical features. It is estimated that pneumonia prevalence is 3-5% in patients with respiratory disease seen in outpatient facilities. Clinical diagnosis of pneumonia without radiological confirmation lacks specificity because clinical presentation (history and physical examination) does not allow to differentiate pneumonia from other acute respiratory diseases (upper respiratory infections, bronchitis, influenza). Diagnosis must be based in clinical-radiological findings: clinical history and physical examination suggest the presence of pulmonary infection but accurate diagnosis is established when chest X ray confirms the existence of pulmonary infiltrates. Clinical findings and chest X ray do not permit to predict with certainty the etiology of pulmonary infection. Radiology is useful to confirm clinical suspicion, it establishes pneumonia location, its extension and severity; furthermore, it allows differentiation between pneumonia and other diseases, to detect possible complications, and may be useful in follow up of high risk patients. The resolution of radiological infiltrates often ensues several weeks or months after clinical recovery, especially in the elderly and in multilobar pneumonia cared for in intensive care units.

  8. [Congenital insensitivity to pain with anhidrosis. Clinical diagnosis, evolution and complications: case report].

    PubMed

    Albuja Echeverría, Byron Orlando; Alvear Lozano, Mayra Bersabeth; Ordóñez Paredes, Carla Patricia

    2014-10-01

    The congenital insensitivity to pain with anhidrosis is a rare autosomal recessive disease caused by mutations in NTRK1 gene (neurotrophic tyrosine kinase receptor 1) located in chromosome 1q21-22, encoding the tyrosinase domain receptor high affinity nerve growth factor. It is characterized by anhidrosis, insensitivity to painful stimuli and mental retardation. Given their low prevalence and the few reported cases, it is important to know its main features to be considered in the differential diagnosis in pediatric practice. We describe the clinical diagnosis, complications, sequelae and symptomatic treatment administered to a 3 years and 6 months old girl in the Hospital Asdrubal de la Torre, Cotacachi, Ecuador.

  9. Comparison of clinical features in pathologically confirmed PSP and MSA patients followed at a tertiary center.

    PubMed

    Xie, Tao; Kang, Un J; Kuo, Sheng-Han; Poulopoulos, Markos; Greene, Paul; Fahn, Stanley

    2015-01-01

    The clinical diagnosis of progressive supranuclear palsy (PSP) and multiple system atrophy (MSA) remains challenging due to heterogeneity of the diseases. Here we compared the clinical features of PSP and MSA to gain insight into their diagnosis and prognosis, particularly the prognostic value of down-gaze palsy latency in PSP progression. We reviewed clinical features of pathologically confirmed 10 PSP and 13 MSA patients, incidentally matched in age-at-onset, gender, and disease duration, followed at Columbia University Medical Center during 1994-2009. The final antemortem diagnosis was incorrect in 30% of PSP (all lacking down-gaze palsy) and 23% of MSA patients. Falls in the first year of the disease, pyramidal involvement and freezing of gait during the course were similar between PSP and MSA. Ataxia and apraxia were in 50% of the PSP patients. Parkinsonism responsive to levodopa treatment was in 30% of the PSP (all with resting tremor) and 50% of the MSA patients. Dysautonomia in MSA could occur as early as 3 years preceding the motor symptoms, with 46% within the first year of the motor onset, but 15% did not have dysautonomia in life. The latency of down-gaze palsy and urogenital dysfunction and MMSE scores at first visit in PSP, and the latency of falls and wheelchair confinement in MSA were all associated with the disease progression. We confirmed most of the previously published characterizations, and identified for the first time the prognostic value of down-gaze palsy latency in PSP progression.

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

    PubMed Central

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

    2015-01-01

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

  11. Clinical and diagnostic features and treatment of giardiasis.

    PubMed

    Begaydorova, R Kh; Nasakaeva, G E; Tabagari, S I; Iukhnevich, E A; Alshinbekova, G K

    2014-11-01

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

  12. Clinical, imaging and genotypical features of three deceased and five surviving cases with ADA2 deficiency.

    PubMed

    Sahin, Sezgin; Adrovic, Amra; Barut, Kenan; Ugurlu, Serdal; Turanli, Eda Tahir; Ozdogan, Huri; Kasapcopur, Ozgur

    2017-05-17

    Deficiency of adenosine deaminase type 2 (DADA2) is a rare form of autoinflammatory disorder with limited reported cases. In this paper, we have presented the clinico-immunological, radiological and genetic characteristics of five surviving and three deceased childhood-onset DADA2 patients. We aimed to compare surviving and deceased patients in terms of clinical features and treatment modalities. Moreover, we have evaluated the causes of death in our DADA2 subjects together with the previously reported cases. Demographic features, clinical characteristics, imaging findings, mutations and pharmacological treatments of DADA2 subjects were noted from patient records of pediatric and adult rheumatology clinics in a retrospective and longitudinal nature. Eight patients from seven families were enrolled. While five of them were surviving, three of them had died due to various reasons. Median age of the patients at disease onset and diagnosis was 7 years (range 0.5-13 years) and 14 years (range 5-27 years), respectively. The main clinical manifestations were cutaneous findings (7/8), recurrent low-grade fever (6/8), neurological involvement (6/8) and gastrointestinal involvement (5/8). All patients had increased acute phase reactants at presentation and also during the disease flares. Until the diagnosis of DADA2 was confirmed, five patients have been followed-up with the diagnosis of PAN: two patients both with PAN and FMF, and one patient with CAPS and vasculitis. Demographic, clinical, neurological features and genetic mutations did not differ in surviving and deceased DADA2 patients. Deceased and surviving subjects differed in terms of treatment modalities after the diagnosis of DADA2. Anti-TNF alpha treatment has been initiated in five surviving patients as soon as the diagnosis of DADA2 was established. However, three patients who have died were not able to use sufficient doses of anti-TNF alpha treatment; in one case due to reluctance of patient and in two

  13. Dementia pugilistica with clinical features of Alzheimer's disease.

    PubMed

    Areza-Fegyveres, Renata; Rosemberg, Sergio; Castro, Rosa Maria R P S; Porto, Claudia Sellitto; Bahia, Valéria Santoro; Caramelli, Paulo; Nitrini, Ricardo

    2007-09-01

    A 61-year-old ex-boxer presented with a three-year history of progressive memory decline. During a seven-year follow-up period, there was a continuous cognitive decline, very similar to that usually observed in Alzheimer's disease. Parkinsonian, pyramidal or cerebellar signs were conspicuously absent. Neuropathological examination revealed the typical features of dementia pugilistica: cavum septi pellucidi with multiple fenestrations, numerous neurofibrillary tangles in the cerebral isocortex and hippocampus (and rare senile plaques). Immunohistochemistry disclosed a high number of tau protein deposits and scarce beta-amyloid staining. This case shows that dementia pugilistica may present with clinical features practically undistinguishable from Alzheimer's disease.

  14. Multimodal Neuroimaging Feature Learning with Multimodal Stacked Deep Polynomial Networks for Diagnosis of Alzheimer's Disease.

    PubMed

    Shi, Jun; Zheng, Xiao; Li, Yan; Zhang, Qi; Ying, Shihui

    2017-01-19

    The accurate diagnosis of Alzheimer's disease (AD) and its early stage, i.e. mild cognitive impairment (MCI), is essential for timely treatment and possible delay of AD. Fusion of multimodal neuroimaging data, such as magnetic resonance imaging (MRI) and positron emission tomography (PET), has shown its effectiveness for AD diagnosis. The deep polynomial networks (DPN) is a recently proposed deep learning algorithm, which performs well on both large-scale and small-size datasets. In this study, a multimodal stacked DPN (MM-SDPN) algorithm, which MM-SDPN consists of two-stage SDPNs, is proposed to fuse and learn feature representation from multimodal neuroimaging data for AD diagnosis. Specifically speaking, two SDPNs are first used to learn high-level features of MRI and PET, respectively, which are then fed to another SDPN to fuse multimodal neuroimaging information. The proposed MM-SDPN algorithm is applied to the ADNI dataset to conduct both binary classification and multiclass classification tasks. Experimental results indicate that MM-SDPN is superior over the state-of-the-art multimodal feature learning based algorithms for AD diagnosis.

  15. Assessment of Correlation between Sweat Chloride Levels and Clinical Features of Cystic Fibrosis Patients

    PubMed Central

    Raina, Manzoor A.; Khan, Mosin S.; Malik, Showkat A.; Raina, AB Hameed; Makhdoomi, Mudassir J.; Bhat, Javed I.

    2016-01-01

    Introduction Cystic Fibrosis (CF) is an autosomal recessive disorder and the incidence of this disease is undermined in Northern India. The distinguishable salty character of the sweat belonging to individuals suffering from CF makes sweat chloride estimation essential for diagnosis of CF disease. Aim The aim of this prospective study was to elucidate the relationship of sweat chloride levels with clinical features and pattern of CF. Materials and Methods A total of 182 patients, with clinical features of CF were included in this study for quantitative measurement of sweat chloride. Sweat stimulation and collection involved pilocarpine iontophoresis based on the Gibson and Cooks methodology. The quantitative estimation of chloride was done by Schales and Schales method with some modifications. Cystic Fibrosis Trans Membrane Conductance Regulator (CFTR) mutation status was recorded in case of patients with borderline sweat chloride levels to correlate the results and for follow-up. Results Out of 182 patients having clinical features consistent with CF, borderline and elevated sweat chloride levels were present in 9 (5%) and 41 (22.5%) subjects respectively. Elevated sweat chloride levels were significantly associated with wheeze, Failure To Thrive (FTT), history of CF in Siblings, product of Consanguineous Marriage (CM), digital clubbing and steatorrhoea on univariate analysis. On multivariate analysis only wheeze, FTT and steatorrhoea were found to be significantly associated with elevated sweat chloride levels (p<0.05). Among the nine borderline cases six cases were positive for at least two CFTR mutations and rest of the three cases were not having any mutation in CFTR gene. Conclusion The diagnosis is often delayed and the disease is advanced in most patients at the time of diagnosis. Sweat testing is a gold standard for diagnosis of CF patients as genetic mutation profile being heterozygous and unlikely to become diagnostic test. PMID:28208841

  16. Clinical diagnosis of progressive supranuclear palsy: The movement disorder society criteria.

    PubMed

    Höglinger, Günter U; Respondek, Gesine; Stamelou, Maria; Kurz, Carolin; Josephs, Keith A; Lang, Anthony E; Mollenhauer, Brit; Müller, Ulrich; Nilsson, Christer; Whitwell, Jennifer L; Arzberger, Thomas; Englund, Elisabet; Gelpi, Ellen; Giese, Armin; Irwin, David J; Meissner, Wassilios G; Pantelyat, Alexander; Rajput, Alex; van Swieten, John C; Troakes, Claire; Antonini, Angelo; Bhatia, Kailash P; Bordelon, Yvette; Compta, Yaroslau; Corvol, Jean-Christophe; Colosimo, Carlo; Dickson, Dennis W; Dodel, Richard; Ferguson, Leslie; Grossman, Murray; Kassubek, Jan; Krismer, Florian; Levin, Johannes; Lorenzl, Stefan; Morris, Huw R; Nestor, Peter; Oertel, Wolfgang H; Poewe, Werner; Rabinovici, Gil; Rowe, James B; Schellenberg, Gerard D; Seppi, Klaus; van Eimeren, Thilo; Wenning, Gregor K; Boxer, Adam L; Golbe, Lawrence I; Litvan, Irene

    2017-06-01

    PSP is a neuropathologically defined disease entity. Clinical diagnostic criteria, published in 1996 by the National Institute of Neurological Disorders and Stroke/Society for PSP, have excellent specificity, but their sensitivity is limited for variant PSP syndromes with presentations other than Richardson's syndrome. We aimed to provide an evidence- and consensus-based revision of the clinical diagnostic criteria for PSP. We searched the PubMed, Cochrane, Medline, and PSYCInfo databases for articles published in English since 1996, using postmortem diagnosis or highly specific clinical criteria as the diagnostic standard. Second, we generated retrospective standardized clinical data from patients with autopsy-confirmed PSP and control diseases. On this basis, diagnostic criteria were drafted, optimized in two modified Delphi evaluations, submitted to structured discussions with consensus procedures during a 2-day meeting, and refined in three further Delphi rounds. Defined clinical, imaging, laboratory, and genetic findings serve as mandatory basic features, mandatory exclusion criteria, or context-dependent exclusion criteria. We identified four functional domains (ocular motor dysfunction, postural instability, akinesia, and cognitive dysfunction) as clinical predictors of PSP. Within each of these domains, we propose three clinical features that contribute different levels of diagnostic certainty. Specific combinations of these features define the diagnostic criteria, stratified by three degrees of diagnostic certainty (probable PSP, possible PSP, and suggestive of PSP). Clinical clues and imaging findings represent supportive features. Here, we present new criteria aimed to optimize early, sensitive, and specific clinical diagnosis of PSP on the basis of currently available evidence. © 2017 International Parkinson and Movement Disorder Society. © 2017 International Parkinson and Movement Disorder Society.

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

    SciTech Connect

    Thomson, K.A.; Finucane, B.M.; Bauer, M.S.

    1994-09-01

    Smith-Magenis Syndrome (SMS) frequently goes unrecognized in newborns and infants as these patients do not yet demonstrate the characteristic behavioral phenotype and may only present with developmental delay and physical dysmorphism. Six of Hall`s ten cardinal features of trisomy 21 in the newborn are also frequently found in newborns with SMS, leading to an early presumptive diagnosis of DS in many of these patients. CASE No. 1: Based on clinical findings, a presumptive diagnosis of DS was given to the patient in the newborn period. Chromosome analysis of peripheral blood revealed a normal 46,XX karyotype. Given this result, the possibility of mosaic DS was raised, and a skin fibroblast study done. Again, the karyotype was reported as normal. Clinical features and cytogenetic analysis confirmed a diagnosis of SMS when the patient was 8 years old. CASE No. 2: A presumptive diagnosis of DS was made in an infant with hypotonia, facial dysmorphisms and congenital heart defects. A routine chromosome analysis was ordered, which revealed a 46,XY,del(17)(p11.2p11.2) karyotype. Indeed, approximately 38% of blood samples referred to our laboratory to rule out DS in an infant failed to demonstrate trisomy for chromosome 21. Given the high degree of clinical overlap with Down Syndrome, the diagnosis of SMS should be considered in all such patients. Additional analysis should be done to look for deletion 17p11.2 when faced with a {open_quotes}normal{close_quotes} karyotype in an infant referred to rule out DS.

  18. Supervised hybrid feature selection based on PSO and rough sets for medical diagnosis.

    PubMed

    Inbarani, H Hannah; Azar, Ahmad Taher; Jothi, G

    2014-01-01

    Medical datasets are often classified by a large number of disease measurements and a relatively small number of patient records. All these measurements (features) are not important or irrelevant/noisy. These features may be especially harmful in the case of relatively small training sets, where this irrelevancy and redundancy is harder to evaluate. On the other hand, this extreme number of features carries the problem of memory usage in order to represent the dataset. Feature Selection (FS) is a solution that involves finding a subset of prominent features to improve predictive accuracy and to remove the redundant features. Thus, the learning model receives a concise structure without forfeiting the predictive accuracy built by using only the selected prominent features. Therefore, nowadays, FS is an essential part of knowledge discovery. In this study, new supervised feature selection methods based on hybridization of Particle Swarm Optimization (PSO), PSO based Relative Reduct (PSO-RR) and PSO based Quick Reduct (PSO-QR) are presented for the diseases diagnosis. The experimental result on several standard medical datasets proves the efficiency of the proposed technique as well as enhancements over the existing feature selection techniques.

  19. A retrospective cohort study identifying the principal pathological features useful in the diagnosis of inclusion body myositis.

    PubMed

    Brady, Stefen; Squier, Waney; Sewry, Caroline; Hanna, Michael; Hilton-Jones, David; Holton, Janice L

    2014-04-28

    The current pathological diagnostic criteria for sporadic inclusion body myositis (IBM) lack sensitivity. Using immunohistochemical techniques abnormal protein aggregates have been identified in IBM, including some associated with neurodegenerative disorders. Our objective was to investigate the diagnostic utility of a number of markers of protein aggregates together with mitochondrial and inflammatory changes in IBM. Retrospective cohort study. The sensitivity of pathological features was evaluated in cases of Griggs definite IBM. The diagnostic potential of the most reliable features was then assessed in clinically typical IBM with rimmed vacuoles (n=15), clinically typical IBM without rimmed vacuoles (n=9) and IBM mimics-protein accumulation myopathies containing rimmed vacuoles (n=7) and steroid-responsive inflammatory myopathies (n=11). Specialist muscle services at the John Radcliffe Hospital, Oxford and the National Hospital for Neurology and Neurosurgery, London. Individual pathological features, in isolation, lacked sensitivity and specificity. However, the morphology and distribution of p62 aggregates in IBM were characteristic and in a myopathy with rimmed vacuoles, the combination of characteristic p62 aggregates and increased sarcolemmal and internal major histocompatibility complex class I expression or endomysial T cells were diagnostic for IBM with a sensitivity of 93% and specificity of 100%. In an inflammatory myopathy lacking rimmed vacuoles, the presence of mitochondrial changes was 100% sensitive and 73% specific for IBM; characteristic p62 aggregates were specific (91%), but lacked sensitivity (44%). We propose an easily applied diagnostic algorithm for the pathological diagnosis of IBM. Additionally our findings support the hypothesis that many of the pathological features considered typical of IBM develop later in the disease, explaining their poor sensitivity at disease presentation and emphasising the need for revised pathological criteria

  20. A retrospective cohort study identifying the principal pathological features useful in the diagnosis of inclusion body myositis

    PubMed Central

    Brady, Stefen; Squier, Waney; Sewry, Caroline; Hanna, Michael; Hilton-Jones, David; Holton, Janice L

    2014-01-01

    Objective The current pathological diagnostic criteria for sporadic inclusion body myositis (IBM) lack sensitivity. Using immunohistochemical techniques abnormal protein aggregates have been identified in IBM, including some associated with neurodegenerative disorders. Our objective was to investigate the diagnostic utility of a number of markers of protein aggregates together with mitochondrial and inflammatory changes in IBM. Design Retrospective cohort study. The sensitivity of pathological features was evaluated in cases of Griggs definite IBM. The diagnostic potential of the most reliable features was then assessed in clinically typical IBM with rimmed vacuoles (n=15), clinically typical IBM without rimmed vacuoles (n=9) and IBM mimics—protein accumulation myopathies containing rimmed vacuoles (n=7) and steroid-responsive inflammatory myopathies (n=11). Setting Specialist muscle services at the John Radcliffe Hospital, Oxford and the National Hospital for Neurology and Neurosurgery, London. Results Individual pathological features, in isolation, lacked sensitivity and specificity. However, the morphology and distribution of p62 aggregates in IBM were characteristic and in a myopathy with rimmed vacuoles, the combination of characteristic p62 aggregates and increased sarcolemmal and internal major histocompatibility complex class I expression or endomysial T cells were diagnostic for IBM with a sensitivity of 93% and specificity of 100%. In an inflammatory myopathy lacking rimmed vacuoles, the presence of mitochondrial changes was 100% sensitive and 73% specific for IBM; characteristic p62 aggregates were specific (91%), but lacked sensitivity (44%). Conclusions We propose an easily applied diagnostic algorithm for the pathological diagnosis of IBM. Additionally our findings support the hypothesis that many of the pathological features considered typical of IBM develop later in the disease, explaining their poor sensitivity at disease presentation and

  1. Feature extraction through parallel Probabilistic Principal Component Analysis for heart disease diagnosis

    NASA Astrophysics Data System (ADS)

    Shah, Syed Muhammad Saqlain; Batool, Safeera; Khan, Imran; Ashraf, Muhammad Usman; Abbas, Syed Hussnain; Hussain, Syed Adnan

    2017-09-01

    Automatic diagnosis of human diseases are mostly achieved through decision support systems. The performance of these systems is mainly dependent on the selection of the most relevant features. This becomes harder when the dataset contains missing values for the different features. Probabilistic Principal Component Analysis (PPCA) has reputation to deal with the problem of missing values of attributes. This research presents a methodology which uses the results of medical tests as input, extracts a reduced dimensional feature subset and provides diagnosis of heart disease. The proposed methodology extracts high impact features in new projection by using Probabilistic Principal Component Analysis (PPCA). PPCA extracts projection vectors which contribute in highest covariance and these projection vectors are used to reduce feature dimension. The selection of projection vectors is done through Parallel Analysis (PA). The feature subset with the reduced dimension is provided to radial basis function (RBF) kernel based Support Vector Machines (SVM). The RBF based SVM serves the purpose of classification into two categories i.e., Heart Patient (HP) and Normal Subject (NS). The proposed methodology is evaluated through accuracy, specificity and sensitivity over the three datasets of UCI i.e., Cleveland, Switzerland and Hungarian. The statistical results achieved through the proposed technique are presented in comparison to the existing research showing its impact. The proposed technique achieved an accuracy of 82.18%, 85.82% and 91.30% for Cleveland, Hungarian and Switzerland dataset respectively.

  2. Image processing based automatic diagnosis of glaucoma using wavelet features of segmented optic disc from fundus image.

    PubMed

    Singh, Anushikha; Dutta, Malay Kishore; ParthaSarathi, M; Uher, Vaclav; Burget, Radim

    2016-02-01

    Glaucoma is a disease of the retina which is one of the most common causes of permanent blindness worldwide. This paper presents an automatic image processing based method for glaucoma diagnosis from the digital fundus image. In this paper wavelet feature extraction has been followed by optimized genetic feature selection combined with several learning algorithms and various parameter settings. Unlike the existing research works where the features are considered from the complete fundus or a sub image of the fundus, this work is based on feature extraction from the segmented and blood vessel removed optic disc to improve the accuracy of identification. The experimental results presented in this paper indicate that the wavelet features of the segmented optic disc image are clinically more significant in comparison to features of the whole or sub fundus image in the detection of glaucoma from fundus image. Accuracy of glaucoma identification achieved in this work is 94.7% and a comparison with existing methods of glaucoma detection from fundus image indicates that the proposed approach has improved accuracy of classification. Copyright © 2015 Elsevier Ireland Ltd. All rights reserved.

  3. Deep sparse multi-task learning for feature selection in Alzheimer’s disease diagnosis

    PubMed Central

    Suk, Heung-Il; Lee, Seong-Whan; Shen, Dinggang

    2016-01-01

    Recently, neuroimaging-based Alzheimer’s disease (AD) or mild cognitive impairment (MCI) diagnosis has attracted researchers in the field, due to the increasing prevalence of the diseases. Unfortunately, the unfavorable high-dimensional nature of neuroimaging data, but a limited small number of samples available, makes it challenging to build a robust computer-aided diagnosis system. Machine learning techniques have been considered as a useful tool in this respect and, among various methods, sparse regression has shown its validity in the literature. However, to our best knowledge, the existing sparse regression methods mostly try to select features based on the optimal regression coefficients in one step. We argue that since the training feature vectors are composed of both informative and uninformative or less informative features, the resulting optimal regression coefficients are inevidently affected by the uninformative or less informative features. To this end, we first propose a novel deep architecture to recursively discard uninformative features by performing sparse multi-task learning in a hierarchical fashion. We further hypothesize that the optimal regression coefficients reflect the relative importance of features in representing the target response variables. In this regard, we use the optimal regression co-efficients learned in one hierarchy as feature weighting factors in the following hierarchy, and formulate a weighted sparse multi-task learning method. Lastly, we also take into account the distributional characteristics of samples per class and use clustering-induced subclass label vectors as target response values in our sparse regression model. In our experiments on the ADNI cohort, we performed both binary and multi-class classification tasks in AD/MCI diagnosis and showed the superiority of the proposed method by comparing with the state-of-the-art methods. PMID:25993900

  4. Deep sparse multi-task learning for feature selection in Alzheimer's disease diagnosis.

    PubMed

    Suk, Heung-Il; Lee, Seong-Whan; Shen, Dinggang

    2016-06-01

    Recently, neuroimaging-based Alzheimer's disease (AD) or mild cognitive impairment (MCI) diagnosis has attracted researchers in the field, due to the increasing prevalence of the diseases. Unfortunately, the unfavorable high-dimensional nature of neuroimaging data, but a limited small number of samples available, makes it challenging to build a robust computer-aided diagnosis system. Machine learning techniques have been considered as a useful tool in this respect and, among various methods, sparse regression has shown its validity in the literature. However, to our best knowledge, the existing sparse regression methods mostly try to select features based on the optimal regression coefficients in one step. We argue that since the training feature vectors are composed of both informative and uninformative or less informative features, the resulting optimal regression coefficients are inevidently affected by the uninformative or less informative features. To this end, we first propose a novel deep architecture to recursively discard uninformative features by performing sparse multi-task learning in a hierarchical fashion. We further hypothesize that the optimal regression coefficients reflect the relative importance of features in representing the target response variables. In this regard, we use the optimal regression coefficients learned in one hierarchy as feature weighting factors in the following hierarchy, and formulate a weighted sparse multi-task learning method. Lastly, we also take into account the distributional characteristics of samples per class and use clustering-induced subclass label vectors as target response values in our sparse regression model. In our experiments on the ADNI cohort, we performed both binary and multi-class classification tasks in AD/MCI diagnosis and showed the superiority of the proposed method by comparing with the state-of-the-art methods.

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

    PubMed Central

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

    2015-01-01

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

  6. Clinical use of lasers in caries diagnosis and therapy.

    PubMed

    Chan, Ambrose

    2008-06-01

    Laser technology is now ubiquitous in science, business, the arts, the military, industry, telecommunications, entertainment and medicine. It is increasingly finding a useful place in dentistry to offer the potential for practical solutions to managing difficult clinical problems. Research into the clinical use of lasers in diagnostic and therapeutic dental procedures has escalated rapidly in recent years. Laser technology has revolutionized the treatment of dental caries. This article reviews the role of laser technology in the clinical management of caries, early caries diagnosis and treatment planning decision making, caries prevention, soft tissue management, fluorescence aided caries elimination and fluorescence feedback-controlled selective caries removal. Laser technology plays a vital role in enhancing caries diagnosis and therapy.

  7. Fluorescein angiographic findings and clinical features in Fuchs' uveitis.

    PubMed

    Bouchenaki, Nadia; Herbort, Carl P

    2010-10-01

    Fuchs' uveitis is very often diagnosed with substantial delay, which is at the origin of deleterious effects such as unnecessary treatment and its consequences. The aim of this study was to analyse the type and frequency of posterior inflammatory and fluorescein angiographic signs in Fuchs' uveitis in conjunction with other clinical signs. Patients seen at the Centre for Ophthalmic Specialised Care (COS) in Lausanne and the Memorial A. de Rothschild, Clinique Générale-Beaulieu in Geneva between 1995 and 2008 with the diagnosis of Fuchs' uveitis and who had undergone a fundus fluorescein angiography (FFA) were analysed. In addition to FFA signs, the data collected included age, gender, initial and final visual acuities, clinical findings at presentation, mean diagnostic delay and ocular complications. Between 1995 and 2008, 105 patients seen in our centres in Lausanne and Geneva were diagnosed with Fuchs' uveitis. Forty of them (38.1%) had undergone at least one FFA. One patient was excluded because of a concomittant diagnosis of multiple sclerosis. In 28 of 39 patients (71.2%) diagnosis was not reached at presentation with a mean diagnosis delay of 3.67 ± 4.86 years (range: 1 month-24 years). The original erroneous diagnosis was intermediate uveitis in 16 patients (57.1%), posterior uveitis in two patients (7.1%), panuveitis in four patients (14.3%) and anterior granulomatous uveitis in six patients (21.4%). Fluorescein angiography demonstrated the presence of disc hyperfluorescence in 43/44 eyes (97.7%), sectorial peripheral retinal vascular leaking in 6/44 eyes (13.6%) and cystoid macular oedema in 4/44 eyes (9.1%), all of which were seen in eyes having undergone cataract surgery. Fuchs' uveitis was bilateral in 5/39 patients (12.8%). The most frequent clinical signs were vitritis in 42/44 eyes (95.5%), stellate keratic precipitates in 41 eyes (93.2%), posterior subcapsular opacities or cataract in 19 eyes (43.2%), and heterochromia in 19 eyes (43.2%). Fuchs

  8. New Features of Disease after Diagnosis in Six Forms of Systemic Vasculitis

    PubMed Central

    Grayson, Peter C.; Cuthbertson, David; Carette, Simon; Hoffman, Gary S.; Khalidi, Nader A.; Koening, Curry L.; Langford, Carol A.; Maksimowicz-McKinnon, Kathleen; Monach, Paul A.; Seo, Philip; Specks, Ulrich; Ytterberg, Steven R.; Merkel, Peter A.

    2015-01-01

    Objective To quantify the occurrence of features of vasculitis that initially present after diagnosis in 6 types of primary vasculitis. Methods Standardized collection of data on 95 disease manifestations in 6 vasculitides, including granulomatosis with polyangiitis (Wegener's, GPA), microscopic polyangiitis (MPA), eosinophilic granulomatosis with polyangiitis (Churg-Strauss, EGPA), polyarteritis nodosa (PAN), giant cell arteritis (GCA), and Takayasu's arteritis (TAK), was performed within a set of multicenter longitudinal, observational cohorts. For each form of vasculitis, the frequency of disease-specific manifestations at diagnosis was compared to the cumulative frequency of each manifestation. The percentage of patients who initially developed “severe” manifestations after diagnosis, defined as organ- or life-threatening in the small and medium vessel vasculitides (GPA, MPA, EGPA, PAN) and as ischemic/vascular in the large vessel vasculitides (GCA, TAK), was reported. Results Out of 838 patients with vasculitis, 490 (59%) experienced ≥ 1 new disease manifestation after diagnosis. On average, patients with vasculitis experienced 1.3 new manifestations after diagnosis (GPA - 1.9, MPA - 1.2, EGPA - 1.5, PAN - 1.2, GCA - 0.7, TAK - 1.0). New severe manifestations occurred after diagnosis in 224 (27%) out of 838 patients (GPA - 26%, MPA - 19%, EGPA - 21%, PAN - 23%, GCA - 24%, and TAK - 44%). Timing of onset of new manifestations was not significantly associated with disease duration. Conclusion A majority of patients with vasculitis develop new disease features after diagnosis, including a substantial number of new, severe manifestations. Ongoing assessment of patients with established vasculitis should remain broad in scope. PMID:23908447

  9. Clinical features of pulmonary artery sarcoma: A report of three cases.

    PubMed

    Zhu, Guangfa; Pu, Xin; Guo, Hongjuang; Huang, Xiaoyong; Chen, Dong; Gan, Huili

    2016-08-01

    Pulmonary artery sarcoma (PAS) is a rare and highly malignant tumor of pulmonary artery origin. Since 1923, when the first case was reported, <300 cases have been reported worldwide. PAS has a poor prognosis, and early diagnosis with radical surgical resection offers patients with PAS the only chance of survival. However, due to its rarity and the non-specificity of its clinical manifestations and imaging presentation, PAS is frequently misdiagnosed as a pulmonary thromboembolic disease, including pulmonary thromboembolism (PTE) and chronic thromboembolic pulmonary hypertension (CTEPH). The present study reports three cases of PAS that were initially misdiagnosed as PTE or CTEPH, and were later shown to be PAS following surgery. In addition, the clinical features of these patients are examined in order to improve the differential diagnosis of PAS during the early stages of the disease, when the prognosis of patients with PAS is at its optimum.

  10. Clinical features of pulmonary artery sarcoma: A report of three cases

    PubMed Central

    Zhu, Guangfa; Pu, Xin; Guo, Hongjuang; Huang, Xiaoyong; Chen, Dong; Gan, Huili

    2016-01-01

    Pulmonary artery sarcoma (PAS) is a rare and highly malignant tumor of pulmonary artery origin. Since 1923, when the first case was reported, <300 cases have been reported worldwide. PAS has a poor prognosis, and early diagnosis with radical surgical resection offers patients with PAS the only chance of survival. However, due to its rarity and the non-specificity of its clinical manifestations and imaging presentation, PAS is frequently misdiagnosed as a pulmonary thromboembolic disease, including pulmonary thromboembolism (PTE) and chronic thromboembolic pulmonary hypertension (CTEPH). The present study reports three cases of PAS that were initially misdiagnosed as PTE or CTEPH, and were later shown to be PAS following surgery. In addition, the clinical features of these patients are examined in order to improve the differential diagnosis of PAS during the early stages of the disease, when the prognosis of patients with PAS is at its optimum. PMID:27446344

  11. [Lactose intolerance: pathophysiology, clinical symptoms, diagnosis and treatment].

    PubMed

    Hutyra, Tomasz; Iwańczak, Barbara

    2009-02-01

    Lactose malabsorption and milk products intolerance symptoms are the most common alimentary tract disorders. Lactose intolerance is a result of lactase deficiency or lack of lactase and lactose malabsorption. Three types of lactase deficiency were distinguished: congenital, late-onset lactase deficiency and secondary lactase deficiency. Lactose intolerance means the appearance of clinical gastrointestinal symptoms after ingestion of lactose. To the clinical symptoms of lactose intolerance belongs: nausea, vomiting, abdominal distension, cramps, flatulence, flatus, diarrhea and abdominal pain. The diagnosis of lactose intolerance is based on the breath hydrogen test and analysis of lactase activity in the small intestine mucosa. Dietary treatment eliminates clinical symptoms.

  12. Tuberculous spondylodiscitis: epidemiology, clinical features, treatment, and outcome.

    PubMed

    Trecarichi, E M; Di Meco, E; Mazzotta, V; Fantoni, M

    2012-04-01

    Tuberculous spondylodiscitis (TS) is a rare but serious clinical condition which may lead to severe deformity and early or late neurological complications. To discuss certain aspects of the approach to TSs, focusing upon epidemiology, diagnosis, and treatment outcome. For the purpose of this review, a literature search was performed using the Pubmed database through to 19th October 2011 to identify studies published in the last 20 years, concerned in epidemiological, clinical, diagnostic, and therapeutical aspects of TS in adults. Only studies drafted in English language and reporting case series of more than 20 patients have been included. TS has been reported to accounts for 1-5% of all TB cases, and for about 50% of the cases of articulo-skeletal TB infections. Despite the actual availability of more effective diagnostic tools, early recognition of TS remains difficult and a high index of suspicion is needed due to the chronic nature of the disease and its insidious and variable clinical presentation. A prompt diagnosis is required to improve long term outcome, and a microbiological confirmation is recommended to enable appropriate choice of anti-mycobacterial agents. Surgery has an important role in alleviating pain, correcting deformities and neurological impairment, and restoring function. Further studies are required to assess the appropriate duration of anti-microbial treatment, also in regarding of a combined surgical approach.

  13. Clinical and Laboratory Diagnosis of Dengue Virus Infection.

    PubMed

    Muller, David A; Depelsenaire, Alexandra C I; Young, Paul R

    2017-03-01

    Infection with any of the 4 dengue virus serotypes results in a diverse range of symptoms, from mild undifferentiated fever to life-threatening hemorrhagic fever and shock. Given that dengue virus infection elicits such a broad range of clinical symptoms, early and accurate laboratory diagnosis is essential for appropriate patient management. Virus detection and serological conversion have been the main targets of diagnostic assessment for many years, however cross-reactivity of antibody responses among the flaviviruses has been a confounding issue in providing a differential diagnosis. Furthermore, there is no single, definitive diagnostic biomarker that is present across the entire period of patient presentation, particularly in those experiencing a secondary dengue infection. Nevertheless, the development and commercialization of point-of-care combination tests capable of detecting markers of infection present during different stages of infection (viral nonstructural protein 1 and immunoglobulin M) has greatly simplified laboratory-based dengue diagnosis. Despite these advances, significant challenges remain in the clinical management of dengue-infected patients, especially in the absence of reliable biomarkers that provide an effective prognostic indicator of severe disease progression. This review briefly summarizes some of the complexities and issues surrounding clinical dengue diagnosis and the laboratory diagnostic options currently available. © The Author 2017. Published by Oxford University Press for the Infectious Diseases Society of America. All rights reserved. For permissions, e-mail: journals.permissions@oup.com.

  14. Clinical criteria for the diagnosis of Parkinson's disease.

    PubMed

    Reichmann, Heinz

    2010-01-01

    The diagnosis of Parkinson's disease (PD) follows the UK Brain Bank Criteria, which demands bradykinesia and one additional symptom, i.e. rigidity, resting tremor or postural instability. The latter is not a useful sign for the early diagnosis of PD, because it does not appear before Hoehn and Yahr stage 3. Early symptoms of PD which precede the onset of motor symptoms are hyposmia, REM sleep behavioral disorder, constipation, and depression. In addition, an increasing number of patients whose PD is related to a genetic defect are being described. Thus, genetic testing may eventually develop into a tool to identify at-risk patients. The clinical diagnosis of PD can be supported by levodopa or apomorphine tests. Imaging studies such as cranial CT or MRI are helpful to distinguish idiopathic PD from atypical or secondary PD. SPECT and PET methods are valuable to distinguish PD tremor from essential tremor if this is clinically not possible. Using all of these methods, we may soon be able to make a premotor diagnosis of PD, which will raise the question whether early treatment is possible and ethically and clinically advisable. Copyright 2010 S. Karger AG, Basel.

  15. A hybrid feature selection approach for the early diagnosis of Alzheimer’s disease

    NASA Astrophysics Data System (ADS)

    Gallego-Jutglà, Esteve; Solé-Casals, Jordi; Vialatte, François-Benoît; Elgendi, Mohamed; Cichocki, Andrzej; Dauwels, Justin

    2015-02-01

    Objective. Recently, significant advances have been made in the early diagnosis of Alzheimer’s disease (AD) from electroencephalography (EEG). However, choosing suitable measures is a challenging task. Among other measures, frequency relative power (RP) and loss of complexity have been used with promising results. In the present study we investigate the early diagnosis of AD using synchrony measures and frequency RP on EEG signals, examining the changes found in different frequency ranges. Approach. We first explore the use of a single feature for computing the classification rate (CR), looking for the best frequency range. Then, we present a multiple feature classification system that outperforms all previous results using a feature selection strategy. These two approaches are tested in two different databases, one containing mild cognitive impairment (MCI) and healthy subjects (patients age: 71.9 ± 10.2, healthy subjects age: 71.7 ± 8.3), and the other containing Mild AD and healthy subjects (patients age: 77.6 ± 10.0 healthy subjects age: 69.4 ± 11.5). Main results. Using a single feature to compute CRs we achieve a performance of 78.33% for the MCI data set and of 97.56% for Mild AD. Results are clearly improved using the multiple feature classification, where a CR of 95% is found for the MCI data set using 11 features, and 100% for the Mild AD data set using four features. Significance. The new features selection method described in this work may be a reliable tool that could help to design a realistic system that does not require prior knowledge of a patient's status. With that aim, we explore the standardization of features for MCI and Mild AD data sets with promising results.

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

    PubMed

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

    2015-01-01

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

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

    PubMed Central

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

    2015-01-01

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

  18. Cryptogenic NORSE: Its distinctive clinical features and response to immunotherapy.

    PubMed

    Iizuka, Takahiro; Kanazawa, Naomi; Kaneko, Juntaro; Tominaga, Naomi; Nonoda, Yutaka; Hara, Atsuko; Onozawa, Yuya; Asari, Hiroki; Hata, Takashi; Kaneko, Junya; Yoshida, Kenji; Sugiura, Yoshihiro; Ugawa, Yoshikazu; Watanabe, Masashi; Tomita, Hitomi; Kosakai, Arifumi; Kaneko, Atsushi; Ishima, Daisuke; Kitamura, Eiji; Nishiyama, Kazutoshi

    2017-11-01

    To report the distinctive clinical features of cryptogenic new-onset refractory status epilepticus (C-NORSE) and the C-NORSE score based on initial clinical assessments. A retrospective study was conducted for 136 patients with clinically suspected autoimmune encephalitis who underwent testing for autoantibodies to neuronal surface antigens between January 1, 2007, and August 31, 2016. Eleven patients with C-NORSE were identified. Their clinical features were compared with those of 32 patients with anti-NMDA receptor encephalitis (NMDARE). The clinical outcome of 11 patients (median age, 27 years; 7 [64%] women) with C-NORSE was evaluated after a median follow-up of 11 months (range, 6-111 months). Status epilepticus was frequently preceded by fever (10/11 [91%]). Brain MRIs showed symmetric T2/fluid-attenuated inversion recovery hyperintensities (8/11 [73%]) and brain atrophy (9/11 [82%]). Only 2 of the 10 treated patients responded to the first-line immunotherapy, and 4 of the 5 patients treated with IV cyclophosphamide responded to the therapy. The long-term outcome was poor in 8 patients (73%). Compared with 32 patients with NMDARE (median age, 27 years; 24 [75%] women), those with C-NORSE had more frequent prodromal fever, status epilepticus, ventilatory support, and symmetric brain MRI abnormalities, had less frequent involuntary movements, absent psychobehavioral symptoms, CSF oligoclonal bands, or tumor association, and had a worse outcome. The C-NORSE score was higher in patients with C-NORSE than those with NMDARE. Patients with C-NORSE have a spectrum of clinical-immunological features different from those with NMDARE. The C-NORSE score may be useful for discrimination between them. Some patients could respond to immunotherapy.

  19. [Biliary atresia - signs and symptoms, diagnosis, clinical management].

    PubMed

    Orłowska, Ewa; Czubkowski, Piotr; Socha, Piotr

    Biliary atresia is a chronic cholangiopathy leading to progressive fibrosis of both intra- and extrahepatic bile ducts. The cause of the condition is unknown. Fundamental management of biliary atresia is surgical intervention and the outcomes of the treatment depend on the child's age with best results when performed within the first 2 months of life. Thus, the main role of pediatric healthcare is an urgent differential diagnosis and prompt qualification for the surgery, optimal postoperative management and early qualification for the liver transplantation in patients with persistent cholestasis. The authors discuss the clinical presentation, diagnosis and management of biliary atresia.

  20. Real-time photoacoustic imaging system for clinical burn diagnosis

    NASA Astrophysics Data System (ADS)

    Ida, Taiichiro; Kawaguchi, Yasushi; Kawauchi, Satoko; Iwaya, Keiichi; Saitoh, Daizoh; Sato, Shunichi; Iwai, Toshiaki

    2013-03-01

    We have developed a real-time (8~30 fps) photoacoustic (PA) imaging system with a linear-array transducer for burn diagnosis. In this system, PA signals originating from blood in the noninjured tissue layer located under the injured tissue layer are detected. The phantom study showed that thin light absorbers embedded in the tissue-mimicking scattering medium at depths of > 3 mm can be imaged with high contrast. The diagnostic experiments using rat burn models showed good agreements between the injury depths (zones of stasis) indicated by PA imaging and those by histological analysis. These results demonstrate the potential usefulness of the present system for clinical burn diagnosis.

  1. [Clinical value of prenatal MRI in the diagnosis and differential diagnosis of fetal bronchopulmonary sequestration].

    PubMed

    Li, Zhi; Zhu, Ming; Dong, Suzhen; Luo, Zhiqin; Fei, Zhenghua; Fang, Xiangming; Qi, Linghong

    2016-01-01

    To investigate the clinical value of prenatal MRI in the diagnosis and differential diagnosis of congenital bronchopulmonary sequestration (BPS). From January 2009 to December 2014, 16 fetuses with BPS were diagnosed by fetal MRI in Huzhou Maternity and Child Care Hospital and Shanghai Children's Medical Center Affiliated to Shanghai Jiaotong University School of Medicine. The clinical data of these cases were analyzed retrospectively. All were singleton pregnancy, and MRI was carried out within 24-48 hours after routine prenatal ultrasound. All the neonates underwent postnatal enhanced CT scan or surgical biopsy after birth, and the results were compared to prenatal MRI diagnosis. (1) With prenatal MRI, 16 cases were diagnosed BPS. The lesions located in left lung in 10 cases, and right lung in 6 cases. As the scope of the lesion, 3 cases located in the whole left lung, 6 cases limited to the left lower lobe, and 1 case was subdiaphragmatic on the left side. 2 cases located in the whole right lung and 4 cases limited to the right lower lobe. One case complicated oligoamnios, and one had pleural effusion. Supplying vessels could be found in 14 cases. (2) When the postnatal results were compared with prenatal MRI, 15 cases were comfirmed as BPS (15/16), including 10 intralobar cases 5 extralobar cases. One that was diagnosed as BPS by prenatal MRI was confirmed to be congenital cystic adenomatoid malformation (CCAM) by pathology. The accuracy of prenatal MRI diagnosis of BPS was 15/16. Prenatal ultrasound missed one case and misdiagnosed two cases, as one was mistakened as CCAM and the other as cystic teratoma. Prenatal MRI has good clinical value in the diagnosis and differential diagnosis of fetal BPS.

  2. Clinical features of trisomy 12 mosaicism-Report and review.

    PubMed

    Hong, Bo; Zunich, Janice; Openshaw, Amanda; M Toydemir, Reha

    2017-03-27

    Trisomy 12 mosaicism is a rare condition. Herein, we report a patient with mosaic trisomy 12 who was conceived by in vitro fertilization. She presented with mild dysmorphic features at birth, including down-slanting palpebral fissures, a depressed and creased nasal bridge, and mild rhizomelic shortening of the limbs. She had age-appropriate development at 6 months of age, but displayed slightly more dysmorphic features than at birth. Chromosome analysis on peripheral blood revealed a normal female karyotype in 50 metaphases. A concurrent genomic microarray analysis showed trisomy 12 in about 25% of the specimen, which was also confirmed by fluorescence in situ hybridization analysis with the CEP12 probe. Our findings further delineate the clinical features in trisomy 12 mosaicism in liveborns and demonstrate the utility of genomic microarray analysis in identification of mosaic aneuploidies.

  3. Acute hepatitis E presenting with clinical feature of autoimmune hepatitis

    PubMed Central

    Patel, Ishan; Companioni, Rafael Ching; Bansal, Raghav; Vyas, Neil; Catalano, Carmine; Aron, Joshua; Walfish, Aaron

    2016-01-01

    A 32-year-old immigrant man presented with new onset jaundice. His past medical history was significant for type 2 diabetes mellitus, hypertension, and hyperlipidemia. His initial laboratory finding and liver biopsy were suggestive of autoimmune hepatitis (AIH). The plan was to start steroids pending negative results for viral serology, but it came back positive for hepatitis E virus. The patient's liver function test and clinical condition improved significantly on conservative management over a period of 1 month. Therefore, we suggest testing for hepatitis E especially in immigrants or recent travelers to endemic areas who presents with clinical features suggestive of AIH. PMID:27987286

  4. 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

  5. Non-convulsive status epilepticus: usefulness of clinical features in selecting patients for urgent EEG

    PubMed Central

    Husain, A; Horn, G; Jacobson, M

    2003-01-01

    Background: Non-convulsive status epilepticus (NCSE) is status epilepticus without obvious tonic–clonic activity. Patients with NCSE have altered mental state. An EEG is needed to confirm the diagnosis, but obtaining an EEG on every patient with altered mental state is not practical. Objective: To determine whether clinical features could be used to predict which patients were more likely to be in NCSE and thus in need of an urgent EEG. Methods: Over a six month period, all patients for whom an urgent EEG was ordered to identify NCSE were enrolled. Neurology residents examined the patients and filled out a questionnaire without knowledge of the EEG results. The patients were divided into two groups, NCSE and non-NCSE, depending on the EEG result. The clinical features were compared between the two groups. The sensitivity and specificity of the features were calculated. Results: 48 patients were enrolled, 12 in NCSE and 36 not in NCSE. Remote risk factors for seizures, severely impaired mental state, and ocular movement abnormalities were seen significantly more often in the NCSE group. The combined sensitivity of remote risk factors for seizures and ocular movement abnormalities was 100%. Conclusions: There are certain clinical features that are more likely to be present in patients in NCSE compared with other types of encephalopathy. Either remote risk factors for seizures or ocular movement abnormalities were seen in all patients in NCSE. These features may be used to select which patients should have an urgent EEG. PMID:12531946

  6. Vertebral Artery Dissection: Natural History, Clinical Features and Therapeutic Considerations

    PubMed Central

    Park, Kwan-Woong; Park, Jong-Sun; Hwang, Sun-Chul; Im, Soo-Bin; Shin, Won-Han

    2008-01-01

    When a tear occurs in one of the major cervicocerebral arteries and allows blood to enter the wall of the artery and split its layers, the result is either stenosis or aneurysmal dilatation of the vessel. Vertebral artery dissection (VAD) is an infrequent occurrence but is a leading cause of stroke in young and otherwise healthy patients. This article discusses recent developments in understanding of the epidemiology and pathogenesis of VAD and the various clinical manifestations, methods of diagnosis, and approaches to treatment. PMID:19096659

  7. Venous compression syndromes: clinical features, imaging findings and management

    PubMed Central

    Liu, R; Oliveira, G R; Ganguli, S; Kalva, S

    2013-01-01

    Extrinsic venous compression is caused by compression of the veins in tight anatomic spaces by adjacent structures, and is seen in a number of locations. Venous compression syndromes, including Paget–Schroetter syndrome, Nutcracker syndrome, May–Thurner syndrome and popliteal venous compression will be discussed. These syndromes are usually seen in young, otherwise healthy individuals, and can lead to significant overall morbidity. Aside from clinical findings and physical examination, diagnosis can be made with ultrasound, CT, or MR conventional venography. Symptoms and haemodynamic significance of the compression determine the ideal treatment method. PMID:23908347

  8. Risk factors and histopathological features of breast cancer among women with different menopausal status and age at diagnosis.

    PubMed

    Unlu, Ozan; Kiyak, Dilara; Caka, Canan; Yagmur, Merve; Yavas, Huseyin G; Erdogan, Fadime; Sener, Nazli; Oguz, Bahar; Babacan, Taner; Altundag, Kadri

    2017-01-01

    Although there are studies that investigate different risk factors and clinicopathological features of breast cancer in women at different age groups and menopausal status, there is a need for studies with larger study populations due to controversial findings. We conducted this study to identify demographic parameters in breast cancer patients and histopathological features of the tumors for different age groups and compare them to demonstrate significant differences, if any. 3325 women diagnosed with breast cancer in Hacettepe University Oncology Hospital Outpatient Clinic between January 1994 and March 2014 were included in this study. Postmenopausal women who were older than 65 were found to have higher number of children, higher rates of oral contraceptive use, greater age at menarche, and have higher rates of first full-time pregnancy before the age of 30. On the other hand, higher rates of grade 3 tumors, advanced lymph node stage, lymphovascular invasion, and triple negative breast cancers were more frequently seen in premenopausal women below the age of 35. Since earlier age at the time of diagnosis is associated with bad prognosis, early diagnosis of breast cancer gains importance in younger women. Implementing targeted screening programs of breast cancer for younger women may become a need in the future. Meanwhile, well-education on risks of breast cancer and regular self-examination for early diagnosis need to be emphasized for the prevention of breast cancer and related diseases in young ages.

  9. [Clinical features of NMO according to brain MRI findings].

    PubMed

    Shimizu, Yuko

    2010-09-01

    Neuromyelitis optica (NMO) is a severe inflammatory, demyelinating disease, and its clinical characteristics include recurrent optic neuritis and longitudinally extensive transverse myelitis. The NMO-immunoglobulin (Ig) G auto-antibody (Ab), which binds to the aquaporin-4 (AQP4) water channel protein, is a marker for NMO. These clinical and immunological features have been used to distinguish NMO from multiple sclerosis (MS). In 1999, Wingerchuk et al. broadened the clinical criteria for diagnosing NMO to include "negative brain magnetic resonance imaging (MRI) at onset." However, after NMO-IgG/AQP4-Ab became a supportive criterion for diagnosing NMO, patients with NMO were frequently found to have symptomatic or asymptomatic brain lesions. In 2006, Pittock et al. reported that asymptomatic brain lesions were common in NMO, and that NMO brain lesions characteristically occurred in the hypothalamus and periventricular areas, which correspond to brain regions with high levels of AQP4 expression. Furthermore, Nakashima et al. detected abnormalities on brain MRI in 71% of NMO-IgG-positive Japanese patients. Patients with NMO have unique brain lesions that are clearly different from the lesions of patients with MS. In patients with NMO, involvement of the dorsal portion of the medulla oblongata causes intractable hiccups and nausea. Some studies described a hypothalamic lesion, and hypothalamic dysfunction could cause symptomatic hypersomnia, narcolepsy, and endocrinopathies. In some patients with NMO and NMO spectrum disorder who experience blood pressure fluctuations, vasogenic edema, manifesting as posterior reversible encephalopathy syndrome, may occur. In a recent report highlighting brain MRI with contrast enhancement, the most prominent feature that appeared to be a specific finding in NMO was "cloud-like enhancement" with multiple patchy enhancing lesions with a blurred margin. Another report showed that acute, large, edematous callosal lesions with

  10. Systemic lupus erythematosus in Asturias, Spain: clinical and serologic features.

    PubMed

    Gómez, Jesús; Suárez, Ana; López, Patricia; Mozo, Lourdes; Díaz, José Bernardino; Gutiérrez, Carmen

    2006-05-01

    Asturias is an autonomous region in the north of Spain with historical and anthropologic peculiarities. In the current report, we examine the main clinical and immunologic features of 363 patients with systemic lupus erythematosus (SLE), virtually the entire population of SLE patients in Asturias. We constructed a database with the clinical and immunologic features of all patients fulfilling the American College of Rheumatology criteria, based on the review of hospital records corresponding to blood samples received for antinuclear antibodies testing since 1992. Arthritis was the most frequently observed main clinical feature and neuropathy was the rarest. Male patients had a disease more frequently characterized by serositis (p<0.05) and neurologic disorder (p<0.01) than females, while children presented malar rash (p<0.05), fever (p<0.05), and kidney involvement (p<0.01) more often than adults. Late-onset patients were characterized by lower frequencies of malar rash (p<0.01), neurologic disorder (p<0.05), alopecia (p<0.01), and lymphadenopathy (p<0.05) than young adults. Numerous direct and inverse significant associations were found among clinical and immunologic features. The most relevant significant associations were neurologic disorder with lupus anticoagulant (p<0.01); kidney involvement with serositis (p<0.01) and DNA antibodies (p<0.05); and thrombosis with DNA antibodies (p<0.05), cardiolipin antibodies (p<0.01), and lupus anticoagulant (p<0.01). A low mortality was found in our series, although kidney involvement (p<0.05) and cardiolipin antibodies (p<0.05) are factors associated with poor survival.

  11. Hereditary palmoplantar keratoderma "clinical and genetic differential diagnosis".

    PubMed

    Sakiyama, Tomo; Kubo, Akiharu

    2016-03-01

    Hereditary palmoplantar keratoderma (PPK) is a heterogeneous group of disorders characterized by hyperkeratosis of the palm and the sole skin. Hereditary PPK are divided into four groups--diffuse, focal, striate and punctate PPK--according to the clinical patterns of the hyperkeratotic lesions. Each group includes simple PPK, without associated features, and PPK with associated features, such as involvement of nails, teeth and other organs. PPK have been classified by a clinically based descriptive system. In recent years, many causative genes of PPK have been identified, which has confirmed and/or rearranged the traditional classifications. It is now important to diagnose PPK by a combination of the traditional morphological classification and genetic testing. In this review, we focus on PPK without associated features and introduce their morphological features, genetic backgrounds and new findings from the last decade.

  12. Comparison of image features calculated in different dimensions for computer-aided diagnosis of lung nodules

    NASA Astrophysics Data System (ADS)

    Xu, Ye; Lee, Michael C.; Boroczky, Lilla; Cann, Aaron D.; Borczuk, Alain C.; Kawut, Steven M.; Powell, Charles A.

    2009-02-01

    Features calculated from different dimensions of images capture quantitative information of the lung nodules through one or multiple image slices. Previously published computer-aided diagnosis (CADx) systems have used either twodimensional (2D) or three-dimensional (3D) features, though there has been little systematic analysis of the relevance of the different dimensions and of the impact of combining different dimensions. The aim of this study is to determine the importance of combining features calculated in different dimensions. We have performed CADx experiments on 125 pulmonary nodules imaged using multi-detector row CT (MDCT). The CADx system computed 192 2D, 2.5D, and 3D image features of the lesions. Leave-one-out experiments were performed using five different combinations of features from different dimensions: 2D, 3D, 2.5D, 2D+3D, and 2D+3D+2.5D. The experiments were performed ten times for each group. Accuracy, sensitivity and specificity were used to evaluate the performance. Wilcoxon signed-rank tests were applied to compare the classification results from these five different combinations of features. Our results showed that 3D image features generate the best result compared with other combinations of features. This suggests one approach to potentially reducing the dimensionality of the CADx data space and the computational complexity of the system while maintaining diagnostic accuracy.

  13. Computer-Aided Breast Cancer Diagnosis with Optimal Feature Sets: Reduction Rules and Optimization Techniques.

    PubMed

    Mathieson, Luke; Mendes, Alexandre; Marsden, John; Pond, Jeffrey; Moscato, Pablo

    2017-01-01

    This chapter introduces a new method for knowledge extraction from databases for the purpose of finding a discriminative set of features that is also a robust set for within-class classification. Our method is generic and we introduce it here in the field of breast cancer diagnosis from digital mammography data. The mathematical formalism is based on a generalization of the k-Feature Set problem called (α, β)-k-Feature Set problem, introduced by Cotta and Moscato (J Comput Syst Sci 67(4):686-690, 2003). This method proceeds in two steps: first, an optimal (α, β)-k-feature set of minimum cardinality is identified and then, a set of classification rules using these features is obtained. We obtain the (α, β)-k-feature set in two phases; first a series of extremely powerful reduction techniques, which do not lose the optimal solution, are employed; and second, a metaheuristic search to identify the remaining features to be considered or disregarded. Two algorithms were tested with a public domain digital mammography dataset composed of 71 malignant and 75 benign cases. Based on the results provided by the algorithms, we obtain classification rules that employ only a subset of these features.

  14. Clinical features of 405 Japanese patients with systemic sclerosis.

    PubMed

    Hashimoto, Atsushi; Endo, Hirahito; Kondo, Hirobumi; Hirohata, Shunsei

    2012-04-01

    We aimed to clarify the clinical features of Japanese patients with systemic sclerosis (SSc), especially with reference to organ involvement and autoantibodies. A cohort of 405 patients with SSc who attended our institution from 1973 to 2008 was identified retrospectively. Data on clinical features, including autoantibodies, organ involvement, and overlap of other connective tissue diseases, were obtained by following the medical records until 2009. The percentage of male patients during or after 1990 was greater than that before 1990 (3.9 vs. 10.6%, respectively). Limited cutaneous SSc (lSSc) was twice as frequent as diffuse cutaneous SSc (dSSc). About half of the patients had lung involvement (50.4%), while only 3.2% had scleroderma renal crisis. Male gender was associated with lung involvement, and dSSc was associated with most organ involvements except for pulmonary arterial hypertension (PAH). Anti-Scl-70 antibody was associated with lung or heart involvement, while anti-U1-RNP antibody was only associated with PAH. Conversely, patients with anti-centromere antibody had less organ involvement. SSc-Sjögren overlap syndrome was related to lSSc, further overlapping systemic lupus erythematosus (SLE), and less lung or heart involvement. In conclusion, these results not only confirmed previous reports but revealed several other findings, such as the increased proportion of male patients in recent years and the relationships between clinical features.

  15. Clinical features associated with ictal osmophobia in migraine.

    PubMed

    Baldacci, Filippo; Lucchesi, Cinzia; Ulivi, Martina; Cafalli, Martina; Vedovello, Marcella; Vergallo, Andrea; Prete, Eleonora Del; Nuti, Angelo; Bonuccelli, Ubaldo; Gori, Sara

    2015-01-01

    Olfactory hypersensitivity may occur during migraine attacks and has been found to be very specific for this form of headache. Aim of this study was to investigate if migraineurs with ictal osmophobia have particular clinical features comparing to patients without ictal osmophobia. We recruited 200 consecutive migraineurs. Other primary headaches comorbidity and migraine prophylaxis were exclusion criteria. Each patient was interviewed following a structured questionnaire including general features about migraine, depression and anxiety symptoms. Migraine triggers both spontaneously and selecting from a specific list. Allodynia during the migraine attack was measured using the Allodynia symptoms check-list 12 (ASC-12). Eighty four (42 %) patients are non-osmophobic vs. 116 patients (58 %) who are osmophobic. After a logistic regression analysis, pain intensity (OR 1.391; p = 0.008) and anxiety (OR 1.099; p = 0.047) were significantly higher while aura (OR 0.421; p = 0.028) is less frequent in osmophobic migraineurs. We found significant differences in clinical features of osmophobic patients in respect to non-osmophobic ones. Ictal osmophobia seems being related to a broader sensorial hypersensitivity that could lead to a more florid clinical presentation.

  16. Clinical and Endoscopic Features of Metastatic Tumors in the Stomach

    PubMed Central

    Kim, Ga Hee; Ahn, Ji Yong; Jung, Hwoon-Yong; Park, Young Soo; Kim, Min-Ju; Choi, Kee Don; Lee, Jeong Hoon; Choi, Kwi-Sook; Kim, Do Hoon; Lim, Hyun; Song, Ho June; Lee, Gin Hyug; Kim, Jin-Ho

    2015-01-01

    Background/Aims Metastasis to the stomach is rare. The aim of this study was to describe and analyze the clinical outcomes of cancers that metastasized to the stomach. Methods We reviewed the clinicopathological aspects of patients with gastric metastases from solid organ tumors. Thirty-seven cases were identified, and we evaluated the histology, initial presentation, imaging findings, lesion locations, treatment courses, and overall patient survival. Results Endoscopic findings indicated that solitary lesions presented more frequently than multiple lesions and submucosal tumor-like tumors were the most common appearance. Malignant melanoma was the tumor that most frequently metastasized to the stomach. Twelve patients received treatments after the diagnosis of gastric metastasis. The median survival period from the diagnosis of gastric metastasis was 3.0 months (interquartile range, 1.0 to 11.0 months). Patients with solitary lesions and patients who received any treatments survived longer after the diagnosis of metastatic cancer than patients with multiple lesions and patients who did not any receive any treatments. Conclusions Proper treatment with careful consideration of the primary tumor characteristics can increase the survival period in patients with tumors that metastasize to the stomach, especially in cases with solitary metastatic lesions in endoscopic findings. PMID:25473071

  17. [Clinical guideline for detection and diagnosis of hypertensive pregnancy disease].

    PubMed

    Lagunes-Espinosa, Alma Luisa; Ríos-Castillo, Brenda; Peralta-Pedrero, María Luisa; del Rocío Cruz-Cruz, Polita; Sánchez-Ambríz, Slivia; Sánchez-Santana, Joaquín Renato; Ramírez-Mota, Carolina; Zavaleta-Vargas, Norma Octavia; López-Cisneros, Gabriela

    2011-01-01

    Hypertensive disorders in pregnancy (HDP) are the main complication and cause of maternal and perinatal death. Pre-eclampsia represents a 34%, according to the Secretaría de Salud de México. To offer the family physicians tools for the opportune detection and diagnosis of HDP a clinical guideline was developmented. Clinical questions were formulated and structured. A standardized sequence to search for Practice Guidelines, based on the key words: hypertensive disorders in pregnancy, pre-eclampsia. Tripdatabase, MDConsult, National Guideline Clearinghouse, Scottish Intercollegiate Guidelines Network, National Institute for Health and Clinical Excellence were used. In addition, Cochrane Library Plus, Science Direct and OVID were used. Most of the recommendations were taken from guidelines selected and supplemented with the remaining material. The information is expressed in levels of evidence and grade of recommendation according to the characteristics of the study design and type of publications. To reduce morbidity and mortality from HDP health professionals should identify risk factors; conduct a close monitoring and early diagnosis. It is essential to provide information to the pregnant patient on alarm data and behavior to follow. This clinical practice guide offers current evidence for screening and diagnosis of HDP in primary care.

  18. Acquired haemophilia: Epidemiology, clinical presentation, diagnosis and treatment.

    PubMed

    Mingot-Castellano, Maria Eva; Núñez, Ramiro; Rodríguez-Martorell, Francisco Javier

    2017-04-07

    The development of circulating autoantibodies able to inhibit some coagulation proteins induces severe or even life-threatening bleeding. This disorder is called acquired haemophilia. This is a rare disease, although its impact may be underestimated because of the lack of records, the lack of knowledge by many specialists, the complexity of the laboratory diagnosis and, finally, because of the fulminant clinical presentation that often precludes diagnosis. Several studies established that mortality ranges between 9 and 33%. Not only haematologists but all physicians should be trained to follow the right steps to diagnose these patients as soon as possible in order to reduce such mortality rates. This review approaches the basic concepts dealing with the diagnosis and management of these patients and intends to assist physicians in identifying patients under suspicion of acquired haemophilia to correctly manage them and refer them to the appropriate Haemostasis Unit.

  19. Fault Diagnosis for Rotating Machinery Using Vibration Measurement Deep Statistical Feature Learning.

    PubMed

    Li, Chuan; Sánchez, René-Vinicio; Zurita, Grover; Cerrada, Mariela; Cabrera, Diego

    2016-06-17

    Fault diagnosis is important for the maintenance of rotating machinery. The detection of faults and fault patterns is a challenging part of machinery fault diagnosis. To tackle this problem, a model for deep statistical feature learning from vibration measurements of rotating machinery is presented in this paper. Vibration sensor signals collected from rotating mechanical systems are represented in the time, frequency, and time-frequency domains, each of which is then used to produce a statistical feature set. For learning statistical features, real-value Gaussian-Bernoulli restricted Boltzmann machines (GRBMs) are stacked to develop a Gaussian-Bernoulli deep Boltzmann machine (GDBM). The suggested approach is applied as a deep statistical feature learning tool for both gearbox and bearing systems. The fault classification performances in experiments using this approach are 95.17% for the gearbox, and 91.75% for the bearing system. The proposed approach is compared to such standard methods as a support vector machine, GRBM and a combination model. In experiments, the best fault classification rate was detected using the proposed model. The results show that deep learning with statistical feature extraction has an essential improvement potential for diagnosing rotating machinery faults.

  20. Fault Diagnosis for Rotating Machinery Using Vibration Measurement Deep Statistical Feature Learning

    PubMed Central

    Li, Chuan; Sánchez, René-Vinicio; Zurita, Grover; Cerrada, Mariela; Cabrera, Diego

    2016-01-01

    Fault diagnosis is important for the maintenance of rotating machinery. The detection of faults and fault patterns is a challenging part of machinery fault diagnosis. To tackle this problem, a model for deep statistical feature learning from vibration measurements of rotating machinery is presented in this paper. Vibration sensor signals collected from rotating mechanical systems are represented in the time, frequency, and time-frequency domains, each of which is then used to produce a statistical feature set. For learning statistical features, real-value Gaussian-Bernoulli restricted Boltzmann machines (GRBMs) are stacked to develop a Gaussian-Bernoulli deep Boltzmann machine (GDBM). The suggested approach is applied as a deep statistical feature learning tool for both gearbox and bearing systems. The fault classification performances in experiments using this approach are 95.17% for the gearbox, and 91.75% for the bearing system. The proposed approach is compared to such standard methods as a support vector machine, GRBM and a combination model. In experiments, the best fault classification rate was detected using the proposed model. The results show that deep learning with statistical feature extraction has an essential improvement potential for diagnosing rotating machinery faults. PMID:27322273