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  1. 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.

  2. 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

  3. 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.

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

    PubMed

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

    2012-12-01

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

  5. 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

  6. 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.

  7. 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.

  8. 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

  9. 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.

  10. 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

  11. 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

  12. 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

  13. 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.

  14. 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.

  15. 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

  16. 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.

  17. 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.

  18. 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

  19. 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

  20. 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.

  1. 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

  2. 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.

  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 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

  5. 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

  6. 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

  7. 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.

  8. 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.

  9. 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.

  10. 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

  11. 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 ...

  12. 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.

  13. 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.

  14. 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

  15. 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.

  16. 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

  17. 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.

  18. 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.

  19. 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.

  20. 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

  1. 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.

  2. 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

  3. 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.

  4. 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.

  5. 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.

  6. [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.

  7. 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.

  8. 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

  9. 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.

  10. 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.

  11. 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

  12. 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

  13. 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

  14. 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.

  15. 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.

  16. 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

  17. 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.

  18. 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.

  19. 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.

  20. Microscopic features for initial diagnosis and disease activity evaluation in inflammatory bowel disease.

    PubMed

    Bressenot, Aude; Geboes, Karel; Vignaud, Jean-Michel; Guéant, Jean-Louis; Peyrin-Biroulet, Laurent

    2013-07-01

    Inflammatory bowel disease is characterized by 2 major entities: Crohn's disease (CD) and ulcerative colitis (UC). In clinical practice, separation of UC and CD has been based on a variety of clinical features, symptoms, endoscopic and radiological, gross and microscopic characteristics. The microscopic diagnosis of inflammatory bowel disease is based on a combination of 2 types of lesions: architectural abnormalities and inflammatory features. However, microscopic distinction between these 2 entities can be difficult and often results in an interim diagnosis of "indeterminate colitis." Recommendations are made to encourage pathologists to give an indication of the activity of the disease: in UC, biopsies are used to discriminate between quiescent disease, inactive disease, and different grades of activity; in CD, evaluation of disease activity is limited and inactivity in the biopsy may not reflect inactivity in the patient. The aim of this review was to summarize microscopic features of inflammatory bowel disease for initial diagnosis and evaluation of disease activity in both CD and UC.

  1. 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

  2. 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.

  3. 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

  4. 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

  5. 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.

  6. 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

  7. 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.

  8. 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.

  9. 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

  10. 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.

  11. 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.

  12. 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

  13. 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…

  14. 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.

  15. 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.

  16. Piriformis syndrome in fibromyalgia: clinical diagnosis and successful treatment.

    PubMed

    Siddiq, Md Abu Bakar; Khasru, Moshiur Rahman; Rasker, Johannes J

    2014-01-01

    Piriformis syndrome is an underdiagnosed extraspinal association of sciatica. Patients usually complain of deep seated gluteal pain. In severe cases the clinical features of piriformis syndrome are primarily due to spasm of the piriformis muscle and irritation of the underlying sciatic nerve but this mysterious clinical scenario is also described in lumbar spinal canal stenosis, leg length discrepancy, piriformis myofascial pain syndrome, following vaginal delivery, and anomalous piriformis muscle or sciatic nerve. In this paper, we describe piriformis and fibromyalgia syndrome in a 30-year-old young lady, an often missed diagnosis. We also focus on management of the piriformis syndrome.

  17. 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

  18. 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.

  19. 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

  20. 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.

  1. 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

  2. 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.

  3. 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

  4. 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%.

  5. 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.

  6. 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.

  7. 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

  8. 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.

  9. 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.

  10. [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.

  11. [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.

  12. 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.

  13. 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.

  14. 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

  15. 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.

  16. 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

  17. [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.

  18. 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

  19. 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.

  20. [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.

  1. 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.

  2. 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

  3. 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.

  4. 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

  5. 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

  6. 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

  7. 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.

  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. 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

  10. 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

  11. 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.

  12. 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.

  13. [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.

  14. 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

  15. 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

  16. 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

  17. 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.

  18. 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

  19. 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.

  20. 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.

  1. 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.

  2. 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.

  3. 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

  4. 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.

  5. 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

  6. 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

  7. 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

  8. 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

  9. 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

  10. 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.

  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. 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.

  13. 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.

  14. 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.

  15. 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.

  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. 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…

  18. 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

  19. 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

  20. 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

  1. 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.

  2. 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

  3. [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)

  4. 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

  5. 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.

  6. [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.

  7. Functional foods: salient features and clinical applications.

    PubMed

    Riezzo, Giuseppe; Chiloiro, Marisa; Russo, Francesco

    2005-09-01

    The term "functional food" refers to foods or ingredients of foods providing an additional physiological benefit beyond their basic nutritional needs. Health benefits are best obtained through a varied diet containing fruits, vegetables, grains, legumes and seeds. However, fortified foods and dietary supplements have been marketed and food industry have made functional food one of their current leading trends. Recently, the number of functional foods that have a potential benefit on health has hugely grown and scientific evidence is supporting the role of functional foods in prevention and treatment of several diseases. Cancer, diabetes, heart disease and hypertension are the most important diseases that can be treated or prevented by functional foods; other diseases are osteoporosis, abnormal bowel motility, and arthritis. It has been estimated that 80% of cancer in USA have a nutrition/diet component suggesting a great impact of functional food and foods components on incidence and treatment of cancer. Numerous factors complicate the evaluation of scientific evidence such as the complexity of food substance, effect on food, metabolic changes associated to dietary changes, the lack of biological markers of disease development. This paper reviews the scientific evidence supporting this area regarding only those foods and ingredients in which a clear experimental and clinical evidence exists for their chemopreventive and therapeutic effects.

  8. 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.

  9. 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.

  10. 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…

  11. 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

  12. 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

  13. 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.

  14. [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.

  15. 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…

  16. 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.

  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. 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.

  19. 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

  20. 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

  1. 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.

  2. [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.

  3. 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.

  4. 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.

  5. [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.

  6. [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

  7. 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

  8. 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.

  9. 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

  10. 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.

  11. 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.

  12. 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.

  13. [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.

  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. 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

  16. 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.

  17. [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.

  18. 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.

  19. Clinical features and diagnosis of diabetic ketoacidosis in children

    Technology Transfer Automated Retrieval System (TEKTRAN)

    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...

  20. 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.

  1. 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…

  2. 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)

  3. 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.

  4. 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

  5. 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

  6. [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.

  7. 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.

  8. 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.

  9. 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

  10. 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…

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

    ERIC Educational Resources Information Center

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

    2011-01-01

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

  12. 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

  13. 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.

  14. 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.

  15. 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.

  16. 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

  17. 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

  18. 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.

  19. [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.

  20. [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.

  1. [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.

  2. 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

  3. 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.

  4. 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

  5. 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.

  6. 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

  7. 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.

  8. 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

  9. 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.

  10. [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.

  11. 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

  12. 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.

  13. 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.

  14. 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

  15. 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.

  16. 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

  17. A patient with amyotrophic lateral sclerosis and atypical clinical and electrodiagnostic features: a case report

    PubMed Central

    2011-01-01

    Introduction Amyotrophic lateral sclerosis is a rapidly progressive, fatal neurodegenerative disorder for which there is no effective treatment. The diagnosis is dependent on the clinical presentation and consistent electrodiagnostic studies. Typically, there is a combination of upper and lower motor neuron signs as well as electrodiagnostic studies indicative of diffuse motor axonal injury. The presentation of amyotrophic lateral sclerosis, however, may be variable. At the same time, the diagnosis is essential for patient prognosis and management. It is therefore important to appreciate the range of possible presentations of amyotrophic lateral sclerosis. Case presentation We present the case of a 57-year-old Caucasian man with pathological findings on postmortem examination consistent with amyotrophic lateral sclerosis but atypical clinical and electrodiagnostic features. He died after a rapid course of progressive weakness. The patient did not respond to immunosuppressive therapy. Conclusion Amyotrophic lateral sclerosis should be considered in patients with a rapidly progressive, unexplained neuropathic process. This should be true even if there are atypical clinical and electrodiagnostic findings. Absence of response to therapy and the development of upper motor neuron signs should reinforce the possibility that amyotrophic lateral sclerosis may be present. Since amyotrophic lateral sclerosis is a fatal illness, however, the possibility of this disease in patients with atypical clinical features should not diminish the need for a thorough diagnostic evaluation and treatment trials. PMID:22047468

  18. 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

  19. 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

  20. [Clinical symptomps, diagnosis and therapy of feline allergic dermatitis].

    PubMed

    Favrot, C; Rostaher, A; Fischer, N

    2014-07-01

    Allergies are often suspected in cats and they are mainly hypersensitivity reactions against insect bites, food- or environmental allergens. Cats, with non flea induced atopic dermatitis, normally present with one oft he following reaction patterns: miliary dermatitis, eosinophilic dermatitis, selfinduced alopecia or head and neck excoriations. None of these reaction patterns is nevertheless pathognomonic for allergic dermatitis, therefore the diagnosis is based on the one hand on the exclusion of similar diseases on the other hand on the successful response on a certain therapy. Recently a study on the clinical presentation of cats with non flea induced atopic dermatitis was published. In this study certain criteria for diagnosing atopy in cats were proposed. For therapy of allergic cats cyclosporin, glucocorticoids, antihistamines, hypoallergenic diets and allergen specific immunotherapy are used. This article should provide a recent overview on the clinical symptoms, diagnosis and therapy of feline allergic dermatitis.

  1. Clinical diagnosis of cardiac involvement in HIV infection

    PubMed Central

    Moldovan, L; Branzan, O; Nechita, O; Ardeleanu, C; Teodorescu, M; Geamai, A

    2012-01-01

    HIV infection is continuously raising, and different treatments did not manage to extend the patient's life. Clinical and morphopathological features of respiratory, gastrointestinal, hematological and nervous system are well characterized in HIV infection, but cardiac involvement is not so well known. Cardiac involvement is extremely rare in HIV disease, but demonstrated by echocardiography and anatomo-pathologic methods, it is more frequently met than the clinical features are supposed to be, and it can be demonstrated by positive serologic tests. The main reason of this research is the necessity to obtain data from HIV infection concerning heart involvement. PMID:23049631

  2. 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

  3. 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.

  4. [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

  5. [Differential diagnosis from hyperglycemic ketoacidosis: pesticide poisoning. Clinical case].

    PubMed

    Vélez, Paola; Paredes, Patricio; Fuenmayor, Frances

    2016-04-01

    Diabetic ketoacidosis in children causes serious morbidity and mortality, especially if it is not recognized on time in the initial diagnosis. However, there are other diseases that can appear to be a metabolic disorder of this kind and be ignored if it is not suspected. We present a clinical case with hyperglycemic ketoacidosis due to the contact with organophosphate; we had to use a continuous infusion of insulin to control the metabolic disorder without repercussions after the girl came home.

  6. 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.

  7. 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.

  8. Clinical, biological, and imaging features of monogenic Alzheimer's Disease.

    PubMed

    Pilotto, Andrea; Padovani, Alessandro; Borroni, Barbara

    2013-01-01

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

  9. 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.

  10. Primary biliary cirrhosis: Clinical and laboratory criteria for its diagnosis.

    PubMed

    Reshetnyak, Vasiliy Ivanovich

    2015-07-07

    Primary biliary cirrhosis (PBC) is a chronic progressive cholestatic granulomatous, and destructive inflammatory lesion of small intralobular and septal bile ducts, which is likely to be caused by an autoimmune mechanism with a the presence of serum antimitochondrial antibodies and a potential tendency to progress to cirrhosis. Despite the fact that the etiology of this disease has been unknown so far, there has been a considerable body of scientific evidence that can reveal the clinical and laboratory signs of PBC and the individual components of its pathogenesis and elaborate diagnostic criteria for the disease and its symptomatic therapy. Deficiencies in autoimmune tolerance are critical factors for the initiation and perpetuation of the disease. The purpose of this review is to summarize the data available in the literature and the author's findings on clinical and laboratory criteria for the diagnosis of PBC. This review describes the major clinical manifestations of the disease and the mechanisms of its development. It presents the immunological, biochemical, and morphological signs of PBC and their significance for its diagnosis. A great deal of novel scientific evidence for the problem of PBC has been accumulated. However, the inadequate efficiency of therapy for the disease lends impetus to the quest for its etiological factors and to further investigations of its pathogenetic mechanisms and, on this basis, to searches for new methods for its early diagnosis.

  11. [Artificial intelligence to assist clinical diagnosis in medicine].

    PubMed

    Lugo-Reyes, Saúl Oswaldo; Maldonado-Colín, Guadalupe; Murata, Chiharu

    2014-01-01

    Medicine is one of the fields of knowledge that would most benefit from a closer interaction with Computer studies and Mathematics by optimizing complex, imperfect processes such as differential diagnosis; this is the domain of Machine Learning, a branch of Artificial Intelligence that builds and studies systems capable of learning from a set of training data, in order to optimize classification and prediction processes. In Mexico during the last few years, progress has been made on the implementation of electronic clinical records, so that the National Institutes of Health already have accumulated a wealth of stored data. For those data to become knowledge, they need to be processed and analyzed through complex statistical methods, as it is already being done in other countries, employing: case-based reasoning, artificial neural networks, Bayesian classifiers, multivariate logistic regression, or support vector machines, among other methodologies; to assist the clinical diagnosis of acute appendicitis, breast cancer and chronic liver disease, among a wide array of maladies. In this review we shift through concepts, antecedents, current examples and methodologies of machine learning-assisted clinical diagnosis.

  12. 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.

  13. 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.

  14. Otomycosis in Shanghai: aetiology, clinical features and therapy.

    PubMed

    Jia, Xianhao; Liang, Qin; Chi, Fanglu; Cao, Wenjun

    2012-09-01

    Otomycosis is frequently seen in Shanghai and is a challenging problem due to recurrence and resistance to therapy. The aims of this study were to determine the pattern of fungal agents, sex distribution, clinical presentation, predisposing factors, complications and treatment outcomes of otomycosis. Retrospective review of 108 patients with a clinical diagnosis of otomycosis treated from September 2009 to September 2010 in otolaryngology outpatient department. It has been found to be more prevalent in female patients than male patients with a sex ratio (F : M) of 2 : 1. Aspergillus niger (54.78%) followed by Candida albicans (16.52%) were the dominant fungi. Pruritus and otorrhea were the most common presenting complaints. The predisposing factors included frequent scratching of the external ear canal (79.63%), taking ototopical and/or oral antimicrobials (24.07%), diabetes (11.11%) and otologic procedures (7.41%). Residual disease was observed in 9.26% and recurrence in 8.89% of the subjects. Topical Fluconazole ear drops and mechanical debridement of visible fungal elements in the external auditory canal were all relatively effective with 83.33% resolution rate on initial application. The diagnosis of otomycosis requires vigilance from clinicians given its non-specific symptoms. Sometimes mycological examinations are necessary. Treatment regimens such as topical fluconazole coupled with mechanical debridement are generally effective. However, recurrence is not uncommon and eradication of disease can be particularly difficult in patients with diabetes and a mastoid cavity.

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

    PubMed Central

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

    2014-01-01

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

  16. Clinical features of drug abuse that reflect genetic risk

    PubMed Central

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

    2014-01-01

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

  17. Prevalence and Clinical Features of Atopic Dermatitis in China

    PubMed Central

    Wang, Xin; Zhao, Da-yu; Shen, Yi-wei

    2016-01-01

    Background. The epidemiology of atopic dermatitis (AD) in Chinese outpatients is yet to be clarified. Objectives. To investigate population-based prevalence and clinical features of AD in Chinese outpatients. Methods. A multicenter cross-sectional study was conducted in outpatients with eczema or dermatitis from 39 tertiary hospitals in 15 provinces. Results. This study included 682 patients diagnosed with AD, with the mean age of 28.8 ± 20.1 years and the median course of 5.3 ± 6.9 years. AD patients had more severe itching (30.4% versus 13.8%, p < 0.001) and clinically suspected bacterial infection (21.7% versus 16.1%, p < 0.001) than those of other types of dermatitis. Older patients were more susceptible to have a history of flexion dermatitis (p < 0.001), bacterial infection (p = 0.005), and severe itching (p < 0.001). Outpatients with clinically suspected bacterial infection had 3.53-fold increased risk of AD than those without it (p < 0.001). The morbidity rate of AD in the (20–25°N) region is 2.86 times higher than that in the (40–45°N) region [OR (95% CI): 0.352 (0.241–0.514), p < 0.001]. Conclusions. AD is characterized by unique clinical/demographic features. Bacterial infection and latitude region may have an impact on the incidence of AD in China. PMID:27957490

  18. 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.

  19. 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

  20. Clinical features of avian vacuolar myelinopathy in American coots

    USGS Publications Warehouse

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

    2002-01-01

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

  1. Clinical features of multiple primary carcinomas of the oral cavity

    PubMed Central

    Li, Ya-Dong; Ma, Xin; Han, Yao-Lun; Peng, Li-Wei

    2017-01-01

    The present study aimed to elucidate the clinical characteristics of multiple primary carcinomas of the oral cavity. The clinical records of 1,024 patients who were treated during follow-up for oral cancer at the Department of Stomatology, Henan Provincial People's Hospital, between March 2013 and December 2014 were retrospectively reviewed. The clinical characteristics of 961 patients who developed single primary oral squamous cell carcinoma (SCC) during follow-up and 54 patients who subsequently developed multiple primary carcinomas in the oral cavity were compared. Multiple primary carcinomas exhibited a female predilection, were most prevalent in the gingiva, and tended to show earlier tumor and nodal stages, as compared with single primary carcinomas. The local recurrence rate was higher for multiple primary carcinomas, as compared with single primary carcinomas, and was demonstrated to increase with the number of multiple primary occurrences. The cumulative incidence rates for metachronous second primary carcinomas following the onset of the first carcinoma at 10 years was 8.0%. Recurrence of multiple primary carcinomas did not decrease the survival rates of the patients assessed in the present study. Furthermore, differences were detected in the clinical characteristics between patients with single oral SCC and those with multiple primary oral carcinomas. The results of the present study indicated that early diagnosis and treatment and close long-term follow-up are required for patients with multiple primary oral carcinomas.

  2. 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.

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

    PubMed Central

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

    2016-01-01

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

  4. 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.

  5. The clinical and demographic features of dizziness related to general health among the Saudi population

    PubMed Central

    Al Saif, Amer; Al Senany, Samira

    2015-01-01

    [Purpose] The purpose of this study was to determine the validity, demographic features of the newly developed Amer Dizziness Diagnostic Scale (ADDS), provide differential diagnosis of the vestibular disorders, assist in the clinical research and practice activities of health workers as well as to understand the probability of the utilization of the ADDS as a first-line evaluation tool in general clinical practice. [Subjects and Methods] Two hundred subjects of various ages including both male and female patients with a history of vertigo and/or dizziness were included in the study and evaluated once using the ADDS. [Results] There were more female (59.5%) than male (49.5) patients in this study. Additionally, we found that most patients (64.4%) had a central mediated problem. In addition, the Amer Dizziness Diagnostic Scale has been found to have both a sensitivity and specificity of 96% that can adequately determine the possible diagnosis of vestibular disorders. [Conclusion] This study has demonstrated the validity of the ADDS scale, the predominance of female involvement related to supplementary medication, vitamin D deficiency, general lifestyle factors, and fluid retention, high sensitivity and specificity, provide differential diagnosis of vestibular disorders that could be used as a first-line evaluation tool in general clinics. PMID:26644673

  6. Outbreak of chikungunya in Johor Bahru, Malaysia: clinical and laboratory features of hospitalized patients.

    PubMed

    Chew, L P; Chua, H H

    2009-09-01

    In 2008, an outbreak of chikungunya infection occurred in Johor. We performed a retrospective review of all laboratory confirmed adult chikungunya cases admitted to Hospital Sultanah Aminah, Johor Bahru from April to August 2008, looking into clinical and laboratory features. A total of 18 laboratory confirmed cases of chikungunya were identified with patients presenting with fever, joint pain, rash and vomiting. Haemorrhagic signs were not seen. Lymphopenia, neutropenia, thrombocytopenia, raised liver enzymes and deranged coagulation profile were the prominent laboratory findings. We hope this study can help guide physician making a diagnosis of chikungunya against other arborviruses infection.

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

    PubMed Central

    Li, Li; Tarrand, Jeffrey J.

    2015-01-01

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

  8. Biomarkers, Early Diagnosis, and Clinical Predictors of BPD

    PubMed Central

    Lal, Charitharth Vivek; Ambalavanan, Namasivayam

    2015-01-01

    Bronchopulmonary Dysplasia (BPD) continues to be an important source of morbidity and mortality in premature neonates. The phenotype of BPD is extremely variable, and diagnosis is a clinical operational definition. A number of clinical and laboratory biomarkers have been proposed for the early identification of infants at higher risk of this disease, to characterize disease activity and severity and for determination of prognosis. Clinical prediction models for BPD have been developed using birth weight, gestational age, indicators of respiratory illness severity, and other clinical variables. Other biomarkers of BPD include those based on imaging of the lungs, lung function measures, and measurements of various analytes in different body fluids (blood, tracheal aspirates, exhaled breath condensates, urine, etc). Novel systems biology ‘omic’ based approaches including but not limited to genomics, proteomics, metabolomics and microbiomics are required for evaluating the multiple interacting cellular and molecular networks that control lung development and injury in BPD. Here we present a critical evaluation of the biomarker approaches studied in the diagnosis of BPD and highlight the future avenues for research in this field. PMID:26593076

  9. Arrhythmogenic right ventricular cardiomyopathy, clinical manifestations, and diagnosis.

    PubMed

    Haugaa, Kristina H; Haland, Trine F; Leren, Ida S; Saberniak, Jørg; Edvardsen, Thor

    2016-07-01

    This review aims to give an update on the pathogenesis, clinical manifestations, and diagnosis of arrhythmogenic right ventricular cardiomyopathy (ARVC). Arrhythmogenic right ventricular cardiomyopathy is mainly an autosomal dominant inherited disease linked to mutations in genes encoding desmosomes or desmosome-related proteins. Classic symptoms include palpitations, cardiac syncope, and aborted cardiac arrest due to ventricular arrhythmias. Heart failure may develop in later stages. Diagnosis is based on the presence of major and minor criteria from the Task Force Criteria revised in 2010 (TFC 2010), which includes evaluation of findings from six different diagnostic categories. Based on this, patients are classified as having possible, borderline, or definite ARVC. Imaging is important in ARVC diagnosis, including both echocardiography and cardiac magnetic resonance imaging for detecting structural and functional abnormalities, but importantly these findings may occur after electrical alterations and ventricular arrhythmias. Electrocardiograms (ECGs) and signal-averaged ECGs are analysed for depolarization and repolarization abnormalities, including T-wave inversions as the most common ECG alteration. Ventricular arrhythmias are common in ARVC and are considered a major diagnostic criterion if originating from the RV inferior wall or apex. Family history of ARVC and detection of an ARVC-related mutation are included in the TFC 2010 and emphasize the importance of family screening. Electrophysiological studies are not included in the diagnostic criteria, but may be important for differential diagnosis including RV outflow tract tachycardia. Further differential diagnoses include sarcoidosis, congenital abnormalities, myocarditis, pulmonary hypertension, dilated cardiomyopathy, and athletic cardiac adaptation, which may mimic ARVC.

  10. Clinical relevance of molecular diagnosis in pet allergy.

    PubMed

    Uriarte, S A; Sastre, J

    2016-07-01

    We describe the pattern of sensitisation to pet IgE components and its association with clinical symptoms. Hundred and fifty nine consecutive patients with rhinitis/asthma sensitised to dog, cat, and horse were recruited. Specific IgE to whole extracts and to pet recombinant allergens were performed. Only 5% of patients were monosensitised to animal allergens. Specific IgE to Can f 1 was significantly associated with persistent rhinitis, Can f 2 with asthma diagnosis, Can f 3 with moderate/severe rhinitis (M/S-R) and asthma diagnosis (AD), and Can f 5 with persistent and M/S-R. Positive IgE to Fel d 2 was significantly associated with M/S-R and AD, Equ c 1 with M/S-R and Equ c 3 with persistent rhinitis, AD and severe asthma. Sensitisation to ≥2 molecules or to pet albumins was associated with more severe respiratory symptoms. Molecular diagnosis in patients with pet allergy may also help clinicians to predict clinical symptoms and their severity.

  11. Herpes simplex keratitis: challenges in diagnosis and clinical management.

    PubMed

    Azher, Tayaba N; Yin, Xiao-Tang; Tajfirouz, Deena; Huang, Andrew Jw; Stuart, Patrick M

    2017-01-01

    Herpes simplex virus is responsible for numerous ocular diseases, the most common of which is herpetic stromal keratitis. This is a recurrent infection of the cornea that typically begins with a subclinical infection of the cornea that establishes a latent infection of sensory ganglia, most often the trigeminal ganglia. Recurring infections occur when the virus is reactivated from latency and travels back to the cornea, where it restimulates an inflammatory response. This inflammatory response can lead to decreased corneal sensation, scarring, and blindness. The diagnosis of these lesions as the result of a recurrent herpes simplex virus infection can at times be problematic. Currently, herpetic stromal keratitis is diagnosed by its clinical presentation on the slit-lamp examination, but the literature does not always support the accuracy of these clinical findings. Other diagnostic tests such as polymerase chain reaction assay, enzyme-linked immunosorbent assay, immunofluorescent antibody, and viral cultures have provided more definitive diagnosis, but also have some limitations. That said, accurate diagnosis is necessary for proper treatment, in order to prevent serious consequences. Current treatment reduces the severity of lesions and controls further viral spread, but does not provide a cure.

  12. Herpes simplex keratitis: challenges in diagnosis and clinical management

    PubMed Central

    Azher, Tayaba N; Yin, Xiao-Tang; Tajfirouz, Deena; Huang, Andrew JW; Stuart, Patrick M

    2017-01-01

    Herpes simplex virus is responsible for numerous ocular diseases, the most common of which is herpetic stromal keratitis. This is a recurrent infection of the cornea that typically begins with a subclinical infection of the cornea that establishes a latent infection of sensory ganglia, most often the trigeminal ganglia. Recurring infections occur when the virus is reactivated from latency and travels back to the cornea, where it restimulates an inflammatory response. This inflammatory response can lead to decreased corneal sensation, scarring, and blindness. The diagnosis of these lesions as the result of a recurrent herpes simplex virus infection can at times be problematic. Currently, herpetic stromal keratitis is diagnosed by its clinical presentation on the slit-lamp examination, but the literature does not always support the accuracy of these clinical findings. Other diagnostic tests such as polymerase chain reaction assay, enzyme-linked immunosorbent assay, immunofluorescent antibody, and viral cultures have provided more definitive diagnosis, but also have some limitations. That said, accurate diagnosis is necessary for proper treatment, in order to prevent serious consequences. Current treatment reduces the severity of lesions and controls further viral spread, but does not provide a cure. PMID:28176902

  13. Rocky Mountain spotted fever: clinical, laboratory, and epidemiological features of 262 cases.

    PubMed

    Helmick, C G; Bernard, K W; D'Angelo, L J

    1984-10-01

    Most previous reports of Rocky Mountain spotted fever (RMSF) have included cases either not laboratory confirmed or confirmed by relatively weak diagnostic criteria. In the present study detailed epidemiological, clinical, and laboratory features of 262 confirmed or highly probable cases of RMSF reported from six states from 1977 to 1980 were analyzed. This analysis revealed that early clinical diagnosis of RMSF is difficult because the illness may have a gradual or an abrupt onset, the symptoms and signs may be unusual in timing or frequency, and the clinical appearance may vary depending on such factors as age and location of residence. RMSF was diagnosed later in those who died than in survivors, primarily because of atypical initial symptoms and the late onset of rash. RMSF should be considered in any individual who, during the spring and summer, has been in RMSF-endemic areas and develops a fever, regardless of the absence of rash or history of tick exposure.

  14. Obesity, age, ethnicity, and clinical features of prostate cancer patients

    PubMed Central

    Wu, Victor J; Pang, Darren; Tang, Wendell W; Zhang, Xin; Li, Li; You, Zongbing

    2017-01-01

    Approximately 36.5% of the U.S. adults (≥ 20 years old) are obese. Obesity has been associated with type 2 diabetes mellitus, cardiovascular disease, stroke, and several types of cancer. The present study included 1788 prostate cancer patients who were treated with radical prostatectomy at the Ochsner Health System, New Orleans, Louisiana, from January, 2001 to March, 2016. The patient’s medical records were retrospectively reviewed. Body mass index (BMI), age, ethnicity (Caucasians versus African Americans), clinical stage, Gleason score, and prostate-specific antigen (PSA) levels were retrieved. The relative risk of the patients was stratified into low risk and high risk groups. Associative analyses found that BMI was associated with age, clinical stage, Gleason score, but not ethnicity, PSA levels, or the relative risk in this cohort. Age was associated with ethnicity, clinical stage, Gleason score, and PSA levels, as well as the relative risk. Ethnicity was associated with Gleason score and PSA levels as well as the relative risk, but not clinical stage. These findings suggest that obesity is associated with advanced prostate cancer with stage T3 or Gleason score ≥ 7 diseases, and age and ethnicity are important factors that are associated with the clinical features of prostate cancer patients. PMID:28337464

  15. Clinical features and teratogenic mechanisms of congenital absence of digits.

    PubMed

    Ogino, Toshihiko

    2007-08-01

    To have a better understanding of classification of congenital hand anomalies, clinical features and teratogenic mechanisms of congenital absence of digits including ulnar and radial deficiencies, cleft hand, symbrachydactyly and constriction band were reviewed. There seemed to be four different teratogenic mechanisms of congenital absence of digits. Ulnar and radial deficiencies have the same clinical features and the cause of these deficiencies is closely related to a deficit of mesenchymal cells in the limb-bud due to impairment before the formation of the limb-bud. Cleft hand, central polydactyly and osseous syndactyly were induced by the same treatment at the same developmental stage in rats. Roentgenograms of the clinical cases and skeletal changes of the anomalies in rats appear to demonstrate that cleft hand formation proceeds from osseous syndactylies and central polydactylies. The teratogenic mechanism of a cleft hand seemed to be failure of induction of digital rays in the hand plate. The sequence of anomalies from brachysyndactyly, or the atypical cleft hand, to the congenital amputation, can be regarded as equivalent to the category of transverse deficiency that is bony dysplasia of the hand. Congenital constriction ring syndrome appears after the formation of the digital rays.

  16. 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.

  17. Clinical features and multidisciplinary approaches to dementia care

    PubMed Central

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

    2011-01-01

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

  18. 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

  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. [Clinical laboratory diagnosis of trichomoniasis in patients with internal diseases].

    PubMed

    Siuch, N I; Riumin, D V; Lashenkova, N N

    2010-01-01

    Urogenital trichomoniasis is an infectious inflammatory disease of the urogenital system caused by protozoan Trichomonas vaginalis and characterized by rapid dissemination and development of complications. Because laboratory diagnosis by microscopic methods encounters difficulty, we undertook detection of T. vaginalis by microscopic study of native and stained (methylene blue, acridine orange, Gram, Romanovsky-Giemsa) uretheral scrapings. 69 patients having no clinical signs of the disease were examined after sexual contacts with women suffering infection of the urogenital tract. Staining with acridine orange and by Romanovsky-Giemsa method proved the most informative methods for diagnosis of torpid trichomoniasis (85.5 and 75.4% respectively). The study of native samples is of little informative value (5.8%). The data obtained were used to develop an algorithm of microscopic investigation for the examination of patients with urogenital acute, subacute or chronic trichomoniasis and carriers of T. vaginalis.

  1. GNAR-GARCH model and its application in feature extraction for rolling bearing fault diagnosis

    NASA Astrophysics Data System (ADS)

    Ma, Jiaxin; Xu, Feiyun; Huang, Kai; Huang, Ren

    2017-09-01

    Given its simplicity of modeling and sensitivity to condition variations, time series model is widely used in feature extraction to realize fault classification and diagnosis. However, nonlinear and nonstationary characteristics common in fault signals of rolling bearing bring challenges to the diagnosis. In this paper, a hybrid model, the combination of a general expression for linear and nonlinear autoregressive (GNAR) model and a generalized autoregressive conditional heteroscedasticity (GARCH) model, (i.e., GNAR-GARCH), is proposed and applied to rolling bearing fault diagnosis. An exact expression of GNAR-GARCH model is given. Maximum likelihood method is used for parameter estimation and modified Akaike Information Criterion is adopted for structure identification of GNAR-GARCH model. The main advantage of this novel model over other models is that the combination makes the model suitable for nonlinear and nonstationary signals. It is verified with statistical tests that contain comparisons among the different time series models. Finally, GNAR-GARCH model is applied to fault diagnosis by modeling mechanical vibration signals including simulation and real data. With the parameters estimated and taken as feature vectors, k-nearest neighbor algorithm is utilized to realize the classification of fault status. The results show that GNAR-GARCH model exhibits higher accuracy and better performance than do other models.

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

    PubMed Central

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

    2016-01-01

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

  3. Restless legs syndrome: a review of clinical and pathophysiologic features.

    PubMed

    Allen, R P; Earley, C J

    2001-03-01

    Restless legs syndrome (RLS), although long ignored and still much underdiagnosed, disrupts the life and sleep considerably of those who have it. Recent clinical and basic research provides for better definition and pathophysiologic understanding of the disorder. The body of knowledge about this disorder has been expanding rapidly during the past decade and it has altered our concepts of this disorder. This review of RLS covers history, diagnosis, morbidity of sleep disturbance, relation to periodic limb movements in both sleep and waking, secondary causes, severity assessment methods, phenotypes for possible genetic patterns, epidemiology, pathophysiology, and medical treatment considerations. The emphasis on pathophysiology includes consideration of central nervous system localization, neurotransmitter and other systems involved, and the role of iron metabolism. Studies to date support the authors' recently advanced iron-dopamine model of RLS.

  4. Skeletal Muscle Laminopathies: A Review of Clinical and Molecular Features

    PubMed Central

    Maggi, Lorenzo; Carboni, Nicola; Bernasconi, Pia

    2016-01-01

    LMNA-related disorders are caused by mutations in the LMNA gene, which encodes for the nuclear envelope proteins, lamin A and C, via alternative splicing. Laminopathies are associated with a wide range of disease phenotypes, including neuromuscular, cardiac, metabolic disorders and premature aging syndromes. The most frequent diseases associated with mutations in the LMNA gene are characterized by skeletal and cardiac muscle involvement. This review will focus on genetics and clinical features of laminopathies affecting primarily skeletal muscle. Although only symptomatic treatment is available for these patients, many achievements have been made in clarifying the pathogenesis and improving the management of these diseases. PMID:27529282

  5. [Clinical radiographic features of basilar impression (author's transl)].

    PubMed

    Scotti, G; Redaelli, M R

    1978-09-01

    After a review of the literature and an analysis of the clinical and radiographic features of basilar impression (b.i.) the authors describe 27 personal cases. In 6 b.i. was present in its pure form and in 21 it was associated with other anomalies at the cranio-vertebral junction. Because of the frequent misdiagnosis with multiple sclerosis or other chronic neurologic diseases and because of the possible improvement of symptoms following decompressive occipital craniectomy and cervical laminectomy, the importance of a correct and complete radiographic study of the cranio-vertebral junction in these cases is stressed.

  6. Uncovering Clinical Features of De Novo Philadelphia Positive Myelodysplasia

    PubMed Central

    Armas, Aristides; Chen, Chen; Mims, Martha

    2017-01-01

    Myelodysplastic syndrome (MDS) is cytogenetically heterogeneous and retains variable risk for acute myeloid leukemia transformation. Though not yet fully understood, there is an association between genetic abnormalities and defects in gene expression. The functional role for infrequent cytogenetic alteration remains unclear. An uncommon chromosomic abnormality is the presence of the Philadelphia (Ph) chromosome. Here, we report a patient with Ph+ MDS treated with low dose Dasatinib who achieved hematologic response for 7 months. In addition, we also examined the English literature on all de novo Ph + MDS cases between 1996 and 2015 to gain insight into clinical features and outcome. PMID:28321349

  7. Clinical features and disability milestones in multiple system atrophy and progressive supranuclear palsy.

    PubMed

    Lee, Sang-Wook; Koh, Seong-Beom

    2012-10-01

    Multiple system atrophy (MSA) and progressive supranuclear palsy (PSP) are an adult-onset progressive neurodegenerative disorder that are known to display diverse clinical features and disease progression. We aim to characterize the clinical features and disease progression in patients with MSA and PSP by using a number of relevant disability milestones in Koreans. Forty-one patients with MSA and 14 patients with PSP had been enrolled. The mean age at onset of MSA-C, MSA-P and PSP was 56.7 ± 7.8, 62.5 ± 8.0, 68.9 ± 6.1 years respectively. The most commonly reported symptom at disease onset is disequilibrium/dizziness in MSA-C, tremor in MSA-P and frequent falling in PSP. The mean duration of reaching milestones after disease onset in MSA-C were as followings: 20.8 (urinary incontinence), 22.9 (frequent falling), 27.8 (wheelchair bound), 31.8 (dysarthria) and 35.8 months (diagnosis). The mean duration of reaching milestones after disease onset were 22.0 (urinary incontinence), 32.6 (frequent falling and diagnosis), 41.2 (dysarthria), 61.4 months (wheelchair bound) in MSA-P and 16.8 (dysarthria), 21.6 (diagnosis), 21.7 (frequent falling), 24.0 months (wheel chair bound) in PSP. In the case of MSA, dizziness may occur for the first time. Thus, when the patient complains of non-specific dizziness, a follow-up examination to distinguish it from MSA can be helpful. There was a trend for patients with MSA-C to reach more disability milestones than in MSA-P and PSP before diagnosis. It may explain why patients with MSA-C are required more detail history taking and neurologic examination at an earlier stage.

  8. Congenital toxoplasmosis: Clinical features, outcomes, treatment, and prevention

    PubMed Central

    Singh, Sarman

    2016-01-01

    Toxoplasmosis is caused by a coccidian parasite, Toxoplasma gondii. The parasite is highly prevalent both in humans and in warm-blooded animals. Cat family animals are definitive host, and these animals excrete the infective oocysts in their feces. Humans, though not definitive host, get infection by consuming water or food contaminated with cat feces. Rarely, infection can also take place through transfusing the infected blood, through transplantation of infected organs, or transplacentally from infected mother to fetus. Transplacental infection can cause congenital infection with varied degree of clinical manifestations, which depend on the age of fetus when infection took place. Diagnosis of congenital toxoplasmosis is difficult to establish until it is suspected and laboratory investigations are carried out. In more than 75% of cases, acute infection is missed due to very mild or unnoticeable clinical symptoms and signs. In India, a prevalence rate of 22.4% (8.8-37.3%) has been reported with an overall IgM positivity of 1.43%. It is estimated that approximately between 56,737 and 176,882 children per year are born in India with a possible risk of congenital toxoplasmosis. The diagnosis of congenital toxoplasmosis can be made by serological methods which are most commonly used. The other methods are parasite isolation by culture and molecular methods. Toxoplasmosis is treatable and transplacental transmission can be prevented by spiramycin, which concentrates in the placenta. However, if infection has done any damage to the fetus or the parasite has passed the placenta, spiramycin cannot reverse the damage. Prevention remains the best remedy. PMID:27722099

  9. Clinical features of paroxysmal kinesigenic dyskinesia: report of 24 cases.

    PubMed

    Sun, Wei; Li, Jianing; Zhu, Yulan; Yan, Xiaobo; Wang, Weizhi

    2012-12-01

    Paroxysmal kinesigenic dyskinesia (PKD) is the most common type of paroxysmal dyskinesia and is characterized by involuntary, intermittent movements induced by sudden movements. Here, we describe 24 patients with PKD, whose clinical data were analyzed. The attacks of involuntary movements were all short lasting, and could involve extremities, trunk, neck, or face without alteration of consciousness. The motor function was normal between attacks, and in some cases, attacks could be evoked during examination. Most patients had normal electroencephalogram (EEG) and neuroimaging results, but 2 cases had abnormal EEGs, and another 2 cases had bilateral calcification of basal ganglion on brain computed tomography (CT) scans. Previous history of misdiagnosis was a predominant feature, while treatments based on misdiagnosis sometimes did lead to improvement. Here, we discuss the clinical characteristics, especially the abnormalities of investigations and misdiagnosis, and recent insights into the pathophysiology of PKD.

  10. Clinical Approach to Diagnosis of Pre-Dementia Alzheimer's Disease (CAD-PAD)

    PubMed Central

    Alom, J.; Llinares, I.; Fajardo, S.

    2012-01-01

    Objective Our aim was to evaluate clinical and neuropsychological features to identify pre-dementia Alzheimer's disease (PAD) among mild cognitive impairment (MCI) patients. Methods A longitudinal prospective study of 89 consecutive patients affected with MCI was conducted. Clinical evaluation consisted of a clinical interview protocol, neuropsychological evaluation, standard laboratory tests, and CT scan. A 6-month clinical check-up was made to determine whether patients remained in MCI, improved or progressed to AD or another dementia. Results At 3-year follow-up, 47% patients developed AD dementia. Seventeen variables were significant and were evaluated by logistic regression analysis to identify the remaining optimal diagnostic criteria: age, gender, repeating comments, difficulties in understanding explanations, time of symptom evolution, history of depression, and word fluency (with animals) were identified with a sensitivity of 100% and a specificity of 93%. A computer application was developed with all these variables which we have named Clinical Approach to Diagnosis of PAD (CAD-PAD). Conclusions These results suggest that CAD-PAD can help in the clinical diagnosis of PAD. PMID:22962557

  11. Joint feature-sample selection and robust diagnosis of Parkinson's disease from MRI data.

    PubMed

    Adeli, Ehsan; Shi, Feng; An, Le; Wee, Chong-Yaw; Wu, Guorong; Wang, Tao; Shen, Dinggang

    2016-11-01

    Parkinson's disease (PD) is an overwhelming neurodegenerative disorder caused by deterioration of a neurotransmitter, known as dopamine. Lack of this chemical messenger impairs several brain regions and yields various motor and non-motor symptoms. Incidence of PD is predicted to double in the next two decades, which urges more research to focus on its early diagnosis and treatment. In this paper, we propose an approach to diagnose PD using magnetic resonance imaging (MRI) data. Specifically, we first introduce a joint feature-sample selection (JFSS) method for selecting an optimal subset of samples and features, to learn a reliable diagnosis model. The proposed JFSS model effectively discards poor samples and irrelevant features. As a result, the selected features play an important role in PD characterization, which will help identify the most relevant and critical imaging biomarkers for PD. Then, a robust classification framework is proposed to simultaneously de-noise the selected subset of features and samples, and learn a classification model. Our model can also de-noise testing samples based on the cleaned training data. Unlike many previous works that perform de-noising in an unsupervised manner, we perform supervised de-noising for both training and testing data, thus boosting the diagnostic accuracy. Experimental results on both synthetic and publicly available PD datasets show promising results. To evaluate the proposed method, we use the popular Parkinson's progression markers initiative (PPMI) database. Our results indicate that the proposed method can differentiate between PD and normal control (NC), and outperforms the competing methods by a relatively large margin. It is noteworthy to mention that our proposed framework can also be used for diagnosis of other brain disorders. To show this, we have also conducted experiments on the widely-used ADNI database. The obtained results indicate that our proposed method can identify the imaging biomarkers and

  12. Review of Clinical Presentation and Diagnosis of Mucopolysaccharidosis IVA

    PubMed Central

    Hendriksz, C.J.; Harmatz, P.; Beck, M.; Jones, S.; Wood, T.; Lachman, R.; Gravance, C.G.

    2013-01-01

    Mucopolysaccharidosis type IVA (MPS IVA) was described in 1929 by Luis Morquio from Uruguay and James Brailsford from England, and was later found as an autosomal recessive lysosomal storage disease. MPS IVA is caused by mutations in the gene encoding the enzyme, N-acetylgalactosamine-6-sulfate sulfatase (GALNS). Reduced GALNS activity results in impaired catabolism of two glycosaminoglycans (GAGs), chondroitin-6-sulfate (C6S) and keratan sulfate (KS). Clinical presentations of MPS IVA reflect a spectrum of progression from a severe ”classical” phenotype to a mild “attenuated” phenotype. More than 180 different mutations have been identified in the GALNS gene, which likely explains the phenotypic heterogeneity of the disorder. Accumulation of C6S and KS manifests predominantly as short stature and skeletal dysplasia (dysostosis multiplex), including atlantoaxial instability and cervical cord compression. However, abnormalities in the visual, auditory, cardiovascular, and respiratory systems can also affect individuals with MPS IVA. Diagnosis is typically based on clinical examination, skeletal radiographs, urinary GAG, and enzymatic activity of GALNS in blood cells or fibroblasts. Deficiency of GALNS activity is a common assessment for the laboratory diagnosis of MPS IVA; however, with recently increased availability, gene sequencing for MPS IVA is often used to confirm enzyme results. As multiple clinical presentations are observed, diagnosis of MPS IVA may require multi-system considerations. This review provides a history of defining MPS IVA and how the understanding of the disease manifestations has changed over time. A summary of the accumulated knowledge is presented, including information from the International Morquio Registry. The classical phenotype is contrasted with attenuated cases, which are now being recognized and diagnosed more frequently. Laboratory based diagnoses of MPS IVA are also discussed. PMID:23665161

  13. Review of clinical presentation and diagnosis of mucopolysaccharidosis IVA.

    PubMed

    Hendriksz, C J; Harmatz, P; Beck, M; Jones, S; Wood, T; Lachman, R; Gravance, C G; Orii, T; Tomatsu, S

    2013-01-01

    Mucopolysaccharidosis type IVA (MPS IVA) was described in 1929 by Luis Morquio from Uruguay and James Brailsford from England, and was later found as an autosomal recessive lysosomal storage disease. MPS IVA is caused by mutations in the gene encoding the enzyme, N-acetylgalactosamine-6-sulfate sulfatase (GALNS). Reduced GALNS activity results in impaired catabolism of two glycosaminoglycans (GAGs), chondroitin-6-sulfate (C6S) and keratan sulfate (KS). Clinical presentations of MPS IVA reflect a spectrum of progression from a severe "classical" phenotype to a mild "attenuated" phenotype. More than 180 different mutations have been identified in the GALNS gene, which likely explains the phenotypic heterogeneity of the disorder. Accumulation of C6S and KS manifests predominantly as short stature and skeletal dysplasia (dysostosis multiplex), including atlantoaxial instability and cervical cord compression. However, abnormalities in the visual, auditory, cardiovascular, and respiratory systems can also affect individuals with MPS IVA. Diagnosis is typically based on clinical examination, skeletal radiographs, urinary GAG, and enzymatic activity of GALNS in blood cells or fibroblasts. Deficiency of GALNS activity is a common assessment for the laboratory diagnosis of MPS IVA; however, with recently increased availability, gene sequencing for MPS IVA is often used to confirm enzyme results. As multiple clinical presentations are observed, diagnosis of MPS IVA may require multi-system considerations. This review provides a history of defining MPS IVA and how the understanding of the disease manifestations has changed over time. A summary of the accumulated knowledge is presented, including information from the International Morquio Registry. The classical phenotype is contrasted with attenuated cases, which are now being recognized and diagnosed more frequently. Laboratory based diagnoses of MPS IVA are also discussed.

  14. Colobronchial fistula: the pathogenesis, clinical presentations, diagnosis and treatment

    PubMed Central

    Zhao, Jinbo; Ma, Nan; Zhao, Zhengwei; Lei, Jie; Lu, Qiang; Tian, Feng; Zhou, Yongan

    2017-01-01

    Background Colobronchial fistula (CBF) is rare and easy to be delayed in clinic. There is no systemic study about this disease. The pathogenesis, clinical presentations, diagnosis and treatment of CBF were analyzed in this study. Methods The clinical data from 37 cases of CBF, which included one case in our institute and the other 36 cases in literature from January 1960 to August 2016, were reviewed and analyzed. The etiology, clinical presentations, diagnostic and therapeutic methods, and outcomes were summarized. Results The causes of CBF included Crohn’s disease, postoperative intraperitoneal adhesion, diaphragmatic hernia, pulmonary infection or abscess, colonic malignancy, colonic interposition, radiation, hyperthermic intraperitoneal chemotherapy (HIPEC), diaphragmatic mesh repair, pulmonary tuberculosis and pyonephrosis. Based on the anatomical location and the causes of fistula, CBF were divided into four types: type I, CBF secondary to the adhesion among colon, diaphragm and lung; type II, CBF secondary to diaphragmatic hernia; type III, CBF secondary to sub diaphragmatic abscess or emphysema; type VI, CBF secondary to colon interposition. The characteristic clinical presentations of CBF was productive cough with foul smelling sputum (78.38%), most of the patients were finally confirmed the diagnosis by barium enema or water-soluble contrast enema study (67.57%) and computer tomography (CT) scan/with multiplanar reconstruction (16.22%); 35 cases (94.59%) accepted the surgical treatment. Among 31 patients with recorded follow-up data, 26 patients recovered unevenly, but 5 patients died in 1 month after treatment. Conclusions CBF is a rare but can not be ignored disease. Anything which may induce the direct or indirect connection between colon and lung tissue may result in CBF. Productive cough with foul smelling sputum is the characteristic symptom. Radiological investigations such as barium enema and/or CT scan with multiplanar reconstruction are

  15. [The clinical features of migraine-associated vertigo].

    PubMed

    Goto, Fumiyuki; Tsutsumi, Tomoko; Ogawa, Kaoru

    2013-08-01

    Migraine-associated vertigo (MAV) is proposed as a new clinical entity on the basis of the assumption that the typical migraine and vertigo or dizziness have a common pathophysiology. Some of the patients with recurrent vertigo syndromes with unknown pathology may have MAV. We performed a retrospective study to clarify the clinical characteristics of MAV in the Japanese population. The following were considered as diagnostic criteria: (1) recurrent vestibular symptoms, (2) migraine headache as defined by the International Headache Society (IHS) criteria, (3) at least one instance of synchronization of a vertiginous attack with a migraine headache, (4) no associated unilateral hearing loss, and (5) absence of other diseases that may have caused vertiginous attacks. Of 552 patients with dizziness or vertigo, 46 (8.3%) were diagnosed as having MAV. A typical feature of this clinical entity is that migraine occurs before the onset of vertigo in women aged 30-40 years. Usually the attacks occur once in a year for 1 to 10 years. An attack lasts for 1-24 h and presents as vertigo and unsteadiness with simultaneous headache. The presence of hearing loss presents an important clinical dilemma. Whether the condition in patients experiencing hearing loss should be defined as MAV or not is still a matter for discussion.

  16. Myelitis and Lupus: Clinical Manifestations, Diagnosis and Treatment. Review.

    PubMed

    Chiganer, Edson Hernán; Hryb, Javier Pablo; Carnero Contentti, Edgar

    2016-08-23

    Systemic lupus erythematosus (SLE) is a chronic autoimmune disease that affects multiple systems. Myelopathy is one of 19 neuropsychiatric syndromes related to SLE defined by the American College of Rheumatology. Although infrequent, it is a severe manifestation, leading to motor and sensory deficits, and sphincter dysfunction. The pathogenesis is not clearly known, but may be related to arterial thrombosis and vasculitis. Diagnosis is based on clinical findings, laboratory tests and the use of gadolinium-enhanced magnetic resonance imaging. The standard therapy is the combination of intravenous cyclophosphamide and glucocorticoids. In refractory disease, other treatments such as plasmapheresis or rituximab have been used.

  17. [Clinical picture and differential diagnosis of the nephrotic crisis].

    PubMed

    Poliantseva, L P

    1985-01-01

    The nephrotic crisis, a grave complication of the nephrotic syndrome (NS) with a possible progress to the hypovolemic shock, was observed in 62 (6.2%) out of 1000 patients with the NS of different etiology (chronic glomerulonephritis, lupus nephritis, amyloidosis and other nephropathies). The main clinical symptoms of different stages of the nephrotic crisis are described, namely of the abdominal painful crisis, migrating erysipelas-like erythemas and the hypovolemic shock (collapse). The spectrum of diseases requiring the differential diagnosis with the nephrotic crisis is established. The complex of measures for the prophylaxis and treatment of the nephrotic crisis is proposed.

  18. Biology, clinical, and hematologic features of acute megakaryoblastic leukemia in children.

    PubMed

    Paredes-Aguilera, Rogelio; Romero-Guzman, Lina; Lopez-Santiago, Norma; Trejo, Rosa Arana

    2003-06-01

    To assess the incidence, clinical features at presentation, hematologic, immunophenotypic, and cytogenetic characteristics of AMKL in children we prospectively studied 834 consecutive non selected children with newly diagnosed acute leukemia (AL) admitted to the Hematology Department at the Instituto Nacional de Pediatría (INP), Mexico, D.F. We found 682 cases (81.8%) with a typical ALL immunophenotype, and the remaining 152 (18.2%) were considered to have AML. In 29 of the 152 patients with AML studied, a diagnosis of AMKL was established. These 29 cases represented 19.1% of the cases of AML and 3.48% of the total cases of AL during the time span covered by the study. Twenty-four percent of the cases occurred in infants 2 years old or younger and 41.4% occurred in children 41 months of age or younger. In contrast, in only 18.6% of the patients with AML (M0-M6), the diagnosis was established before 42 months of age and in 17% before their second year of life. Clinical presentation was not strikingly different than that observed in patients with other types of AML, and the time interval from onset of symptoms to diagnosis was also similar, though in a small subset of patients, the clinical course was characterized by a chronic slowly progressive disorder extending over weeks or months resembling smoldering leukemia or chronic myelofibrosis with agnogenic myeloid metaplasia. Bone marrow (BM) fibrosis was a constant features in our patients; 75% of the patients studied showed this complication at the time of diagnosis. Some rather unusual findings in this study were intense skeletal pains from multiple osteolytic lesions, the presence of soft-tissue tumor, and the presence of cohesive scanty clusters of primitive-looking blast cells in BM aspirates. Several interesting cytogenetic findings in our study were t(1;22)(p13;q13) in a 14-year-old boy, t(9;22)(q34;q11) in one patient, and monosomy 7 in two patients. Another important finding in our study was the clinical

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

    NASA Astrophysics Data System (ADS)

    Tachimori, Yutaka; Iwanaga, Hiroaki; Tahara, Takashi

    2013-12-01

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

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

    PubMed Central

    2014-01-01

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

  1. Evolution of clinical features in possible DLB depending on FP-CIT SPECT result

    PubMed Central

    Moreno, Emilio; Thomas, Alan; Inglis, Fraser; Tabet, Naji; Stevens, Tim; Whitfield, Tim; Aarsland, Dag; Rainer, Michael; Padovani, Alessandro

    2016-01-01

    Objective: To test the hypothesis that core and suggestive features in possible dementia with Lewy bodies (DLB) would vary in their ability to predict an abnormal dopamine transporter scan and therefore a follow-up diagnosis of probable DLB. A further objective was to assess the evolution of core and suggestive features in patients with possible DLB over time depending on the 123I-FP-CIT SPECT scan result. Methods: A total of 187 patients with possible DLB (dementia plus one core or one suggestive feature) were randomized to have dopamine transporter imaging or to follow-up without scan. DLB features were compared at baseline and at 6-month follow-up according to imaging results and follow-up diagnosis. Results: For the whole cohort, the baseline frequency of parkinsonism was 30%, fluctuations 29%, visual hallucinations 24%, and REM sleep behavior disorder 17%. Clinician-rated presence of parkinsonism at baseline was significantly (p = 0.001) more frequent and Unified Parkinson’s Disease Rating Scale (UPDRS) score at baseline was significantly higher (p = 0.02) in patients with abnormal imaging. There was a significant increase in UPDRS score in the abnormal scan group over time (p < 0.01). There was relatively little evolution of the rest of the DLB features regardless of the imaging result. Conclusions: In patients with possible DLB, apart from UPDRS score, there was no difference in the evolution of DLB clinical features over 6 months between cases with normal and abnormal imaging. Only parkinsonism and dopamine transporter imaging helped to differentiate DLB from non-DLB dementia. PMID:27511183

  2. Multivariate Feature Selection of Image Descriptors Data for Breast Cancer with Computer-Assisted Diagnosis

    PubMed Central

    Galván-Tejada, Carlos E.; Zanella-Calzada, Laura A.; Galván-Tejada, Jorge I.; Celaya-Padilla, José M.; Gamboa-Rosales, Hamurabi; Garza-Veloz, Idalia; Martinez-Fierro, Margarita L.

    2017-01-01

    Breast cancer is an important global health problem, and the most common type of cancer among women. Late diagnosis significantly decreases the survival rate of the patient; however, using mammography for early detection has been demonstrated to be a very important tool increasing the survival rate. The purpose of this paper is to obtain a multivariate model to classify benign and malignant tumor lesions using a computer-assisted diagnosis with a genetic algorithm in training and test datasets from mammography image features. A multivariate search was conducted to obtain predictive models with different approaches, in order to compare and validate results. The multivariate models were constructed using: Random Forest, Nearest centroid, and K-Nearest Neighbor (K-NN) strategies as cost function in a genetic algorithm applied to the features in the BCDR public databases. Results suggest that the two texture descriptor features obtained in the multivariate model have a similar or better prediction capability to classify the data outcome compared with the multivariate model composed of all the features, according to their fitness value. This model can help to reduce the workload of radiologists and present a second opinion in the classification of tumor lesions. PMID:28216571

  3. Prenatal diagnosis and prenatal imaging features of fetal monosomy 1p36.

    PubMed

    Lissauer, D; Larkins, S A; Sharif, S; MacPherson, L; Rhodes, C; Kilby, M D

    2007-09-01

    Deletion of the distal end of the short arm of chromosome 1 (1p36) is thought to be a common terminal chromosomal deletion. However, few cases prospectively diagnosed prenatally have been reported. In this case, prenatal ultrasound at 21 weeks of gestation noted the fetus to have mild ventriculomegaly (Vhanterior = 11 mm and Vhposterior = 12 mm) and increased nuchal edema (6 mm). Maternal serum alpha-fetoprotein was normal unlike in a majority of previously described cases. The prenatal ultrasound features were further clarified with fetal MRI. Chromosome analysis following amniocentesis demonstrated a 1p36 deletion, which was confirmed by fluorescence in situ hybridization (FISH). The syndrome associated with 1p36 deletion is well described in infants and is characterized by typical facial features (prominent forehead, straight eyebrows. deep-set eyes, flat nasal bridge and a pointed chin). Other associated features are neurodevelopmental delay, seizures, cardiomyopathy and neurosensory hearing impairment. This case supplements our knowledge of the prenatal features of 1p36. Identification of this deletion by direct chromosomal analysis can be technically difficult and vigilance is required to improve diagnosis. FISH analysis is an important diagnostic adjunct where the diagnosis is suspected following classical G-banding techniques. However, in this chromosomal anomaly there remain few characteristic prenatal signs that are readily diagnosed with prenatal imaging.

  4. Diagnosis of Chronic Kidney Disease Based on Support Vector Machine by Feature Selection Methods.

    PubMed

    Polat, Huseyin; Danaei Mehr, Homay; Cetin, Aydin

    2017-04-01

    As Chronic Kidney Disease progresses slowly, early detection and effective treatment are the only cure to reduce the mortality rate. Machine learning techniques are gaining significance in medical diagnosis because of their classification ability with high accuracy rates. The accuracy of classification algorithms depend on the use of correct feature selection algorithms to reduce the dimension of datasets. In this study, Support Vector Machine classification algorithm was used to diagnose Chronic Kidney Disease. To diagnose the Chronic Kidney Disease, two essential types of feature selection methods namely, wrapper and filter approaches were chosen to reduce the dimension of Chronic Kidney Disease dataset. In wrapper approach, classifier subset evaluator with greedy stepwise search engine and wrapper subset evaluator with the Best First search engine were used. In filter approach, correlation feature selection subset evaluator with greedy stepwise search engine and filtered subset evaluator with the Best First search engine were used. The results showed that the Support Vector Machine classifier by using filtered subset evaluator with the Best First search engine feature selection method has higher accuracy rate (98.5%) in the diagnosis of Chronic Kidney Disease compared to other selected methods.

  5. Multivariate Feature Selection of Image Descriptors Data for Breast Cancer with Computer-Assisted Diagnosis.

    PubMed

    Galván-Tejada, Carlos E; Zanella-Calzada, Laura A; Galván-Tejada, Jorge I; Celaya-Padilla, José M; Gamboa-Rosales, Hamurabi; Garza-Veloz, Idalia; Martinez-Fierro, Margarita L

    2017-02-14

    Breast cancer is an important global health problem, and the most common type of cancer among women. Late diagnosis significantly decreases the survival rate of the patient; however, using mammography for early detection has been demonstrated to be a very important tool increasing the survival rate. The purpose of this paper is to obtain a multivariate model to classify benign and malignant tumor lesions using a computer-assisted diagnosis with a genetic algorithm in training and test datasets from mammography image features. A multivariate search was conducted to obtain predictive models with different approaches, in order to compare and validate results. The multivariate models were constructed using: Random Forest, Nearest centroid, and K-Nearest Neighbor (K-NN) strategies as cost function in a genetic algorithm applied to the features in the BCDR public databases. Results suggest that the two texture descriptor features obtained in the multivariate model have a similar or better prediction capability to classify the data outcome compared with the multivariate model composed of all the features, according to their fitness value. This model can help to reduce the workload of radiologists and present a second opinion in the classification of tumor lesions.

  6. An Enhanced Grey Wolf Optimization Based Feature Selection Wrapped Kernel Extreme Learning Machine for Medical Diagnosis

    PubMed Central

    Li, Qiang; 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. PMID:28246543

  7. Combining Model-Based and Feature-Driven Diagnosis Approaches - A Case Study on Electromechanical Actuators

    NASA Technical Reports Server (NTRS)

    Narasimhan, Sriram; Roychoudhury, Indranil; Balaban, Edward; Saxena, Abhinav

    2010-01-01

    Model-based diagnosis typically uses analytical redundancy to compare predictions from a model against observations from the system being diagnosed. However this approach does not work very well when it is not feasible to create analytic relations describing all the observed data, e.g., for vibration data which is usually sampled at very high rates and requires very detailed finite element models to describe its behavior. In such cases, features (in time and frequency domains) that contain diagnostic information are extracted from the data. Since this is a computationally intensive process, it is not efficient to extract all the features all the time. In this paper we present an approach that combines the analytic model-based and feature-driven diagnosis approaches. The analytic approach is used to reduce the set of possible faults and then features are chosen to best distinguish among the remaining faults. We describe an implementation of this approach on the Flyable Electro-mechanical Actuator (FLEA) test bed.

  8. Clinical features and treatment of obstructive sleep apnea.

    PubMed Central

    Kimoff, R J; Cosio, M G; McGregor, M

    1991-01-01

    OBJECTIVE: To review the clinical features and treatment of obstructive sleep apnea (OSA). DATA SOURCE AND SELECTION: All articles on OSA published in French and English between 1970 and 1990 and indexed in Index Medicus were reviewed. Studies addressing the epidemiologic features and clinical aspects of OSA were selected, and special emphasis was given to articles reporting the effects of treatment on morbidity and mortality rates. MAIN RESULTS: OSA is characterized by episodes of upper airway obstruction during sleep that result in repetitive hypoxemia and sleep disruption. OSA leads to various neuropsychologic and cardiovascular complications, including daytime hypersomnolence, cognitive impairment, systemic and pulmonary hypertension and cardiac arrhythmias. There is suggestive evidence that the death rate among affected people is increased. The true incidence of OSA is unknown, but estimates have varied from 1% upwards among men. The current treatment with the greatest overall effectiveness and acceptability is nasal continuous positive airway pressure. CONCLUSION: This common, readily treatable disorder is associated with serious complications and therefore must be widely recognized by health professionals. PMID:1998928

  9. Tracheal rupture caused by blunt chest trauma: radiological and clinical features.

    PubMed

    Kunisch-Hoppe, M; Hoppe, M; Rauber, K; Popella, C; Rau, W S

    2000-01-01

    The aim of this study was to assess radiomorphologic and clinical features of tracheal rupture due to blunt chest trauma. From 1992 until 1998 the radiomorphologic and clinical key findings of all consecutive tracheal ruptures were retrospectively analyzed. The study included ten patients (7 men and 3 women; mean age 35 years); all had pneumothoraces which were persistent despite suction drainage. Seven patients developed a pneumomediastinum as well as a subcutaneous emphysema on conventional chest X-rays. In five patients, one major hint leading to the diagnosis was a cervical emphysema, discovered on the lateral cervical spine view. Contrast-media-enhanced thoracic CT was obtained in all ten cases and showed additional injuries (atelectasis n = 5; lung contusion n = 4; lung laceration n = 2; hematothorax n = 2 and hematomediastinum n = 4). The definite diagnosis of tracheal rupture was made by bronchoscopy, which was obtained in all patients. Tracheal rupture due to blunt chest trauma occurs rarely. Key findings were all provided by conventional chest X-ray. Tracheal rupture is suspected in front of a pneumothorax, a pneumomediastinum, or a subcutaneous emphysema on lateral cervical spine and chest films. Routine thoracic CT could also demonstrate these findings but could not confirm the definite diagnosis of an tracheal rupture except in one case; in the other 9 cases this was done by bronchoscopy. Thus, bronchoscopy should be mandatory in all suspicious cases of tracheal rupture and remains the gold standard.

  10. Prader-Willi Syndrome: A spectrum of anatomical and clinical features.

    PubMed

    Hurren, Bradley J; Flack, Natasha A M S

    2016-07-01

    Prader-Willi Syndrome (PWS) is estimated to affect 400,000 people worldwide. First described clinically in 1956, PWS is now known to be a result of a genetic mutation, involving Chromosome 15. The phenotypical appearance of individuals with the syndrome follows a similar developmental course. During infancy, universal hypotonia accompanied by feeding problems, hypogonadism, and dolichocephaly are evident. Characteristic facial features such as narrow bifrontal diameter, almond-shaped eyes, and small mouth (with downturned corners and thin upper lip) may also be evident at this stage. In early childhood, the craniofacial features become more obvious and a global developmental delay is observed. Simultaneously, individuals develop hyperphagia that leads to excessive or rapid weight gain, which, if untreated, exists throughout their lifespan and may predispose them to numerous, serious health issues. The standard tool for differential diagnosis of PWS is genetic screening; however, clinicians also need to be aware of the characteristic features of this disorder, including differences between the genetic subtypes. As the clinical manifestations of the syndrome vary between individuals and become evident at different developmental time points, early assessment is hindered. This article focuses on the clinical and anatomical manifestations of the syndrome and highlights the areas of discrepancy and limitations within the existing literature. Clin. Anat. 29:590-605, 2016. © 2016 Wiley Periodicals, Inc.

  11. Lymphoscintigraphy to confirm the clinical diagnosis of lymphedema

    SciTech Connect

    Golueke, P.J.; Montgomery, R.A.; Petronis, J.D.; Minken, S.L.; Perler, B.A.; Williams, G.M. )

    1989-09-01

    Confirmation of the diagnosis of lymphedema often requires lymphangiography, a procedure that is painful for the patient and technically demanding. Radioisotope lymphoscintigraphy is a relatively new technique that uses technetium 99 m antimony trisulfide colloid to produce a diagnostic image similar to a lymphangiogram. The procedure requires a single subcutaneous injection in the involved extremity, and images are obtained 3 hours later. It is technically easy to perform, produces minimal discomfort for the patient, and has no adverse effects. We have recently used radioisotope lymphoscintigraphy to evaluate 17 patients with extremity edema. These patients initially had a presumed diagnosis of lymphedema involving the upper or lower extremity. Lymphoscintigraphy confirmed the diagnosis of lymphedema in 12 (70.6%) patients. In five of the 17 patients (29.4%) the clinical impression of lymphedema was not supported by lymphoscintigraphy, leading to alternative diagnoses such as lipomatosis, venous insufficiency (two patients), congestive heart failure, and disuse edema. In all patients with secondary lymphedema the lymphatic system in the involved extremity could be partially visualized. Conversely, three of four patients with primary lymphedema had no ascent of the tracer from the foot and no lymphatic channels could be visualized. Lymphoscintigraphy is relatively easy to perform, safe, minimally invasive, and not uncomfortable for the patient. It is useful in differentiating lymphedema from other causes of extremity edema, allowing institution of appropriate therapy.

  12. Analysis of clinical features of painless aortic dissection.

    PubMed

    Liu, Zhao-yu; Zou, Yuan-lin; Chai, Bo-lan; Zeng, He-song

    2014-08-01

    The clinical characteristics of painless aortic dissection were investigated in order to improve the awareness of diagnosis and treatment of atypical aortic dissection. The 482 cases of aortic dissection were divided into painless group and pain group, and the data of the two groups were retrospectively analyzed. The major clinical symptom was pain in 447 cases (92.74%), while 35 patients (7.26%) had no typical pain. The gender, age, hypertension, hyperlipidemia, diabetes, smoking and drinking history had no statistically significant differences between the two groups (P>0.05). The proportion of Stanford type A in painless group was significantly higher than that in pain group (48.57% vs. 21.03%, P=0.006). The incidence of unconsciousness in the painless group was significantly higher than that in the pain group (14.29% vs. 3.58%, P=0.011). The incidence of hypotension in painless group was significantly higher than that in pain group for 4.26 folds (P=0.01). Computed tomography angiography (CTA) examination revealed that the incidence of aortic arch involved in the painless group was significantly higher than that in the pain group (19.23% vs. 5.52%, P=0.019). It was concluded that the incidence of painless aortic dissection was higher in Stanford A type patients, commonly seen in the patients complicated with hypotension and unconsciousness. CTA examination revealed higher incidence of aortic arch involvement.

  13. Clinical features of HIV disease in developing countries.

    PubMed

    Grant, A

    2002-06-01

    HIV disease progresses from an asymptomatic period of variable duration, through mild symptoms, to severe disease characteristic of cellular immunodeficiency. The rate of progression from infection to severe disease is probably similar world-wide. However, individuals in developing countries have more symptomatic disease, in keeping with the high incidence of morbidity in the general population, and poor survival with advanced disease. The clinical manifestations of severe HIV-related immunosuppression vary with geographical region. Tuberculosis (TB) is the most important severe opportunistic disease in developing countries: the clinical presentation may differ from TB in the immunocompetent. Bacterial infections, particularly due to Streptococcus pneumoniae and non-typhoid Salmonella spp., are also important causes of morbidity and mortality. Fungal diseases such as Pneumocystis carinii pneumonia (PCP), cryptococcosis, histoplasmosis and penicilliosis vary in prevalence in different geographical regions. A high index of suspicion of HIV infection and knowledge of the local spectrum of HIV disease are important for early diagnosis and appropriate management of HIV-related disease.

  14. Clinical and Polysomnographic Features of Kleine-Levin Syndrome: Case Series

    PubMed Central

    ERDEM, Murat; BOLU, Abdullah; GARİP, Beyazıt; KARAMAN, Dursun; YETKİN, Sinan

    2013-01-01

    Kleine-Levin Syndrome (KLS) is a rare disorder characterized intermittent hypersomnia, hyperphagia, hypersexuality, abnormal behaviors, and confusion. Patients are asymptomatic between episodes. The aim of this case series study was to determine the clinical features of patients with KLS and to compare the polysomnography (PSG) findings between symptomatic and asymptomatic periods. We compared the results of PSG investigations performed in symptomatic and asymptomatic periods in six patients diagnosed with KLS at Gulhane Military Medical Faculty Sleep Research Center between 1998 and 2005. The age at onset of KLS was approximately 18 years, the diagnosis delayed 2.67 years, hypersomnia episodes lasted approximately 11.5 days, until the correct diagnosis, the patients had experienced on average 5 episodes. Total sleep time in KLS patients during symptomatic period and stage 2 sleep percent was higher than in asymptomatic period. REM latency was shorter and stage 3 and REM percent was lower in asymptomatic period. The clinical features including the age of onset and episode duration are compatible with those from the previous studies. It was observed that the sleep architecture during symptomatic period was different from that in asymptomatic period.

  15. Glucose: archetypal biomarker in diabetes diagnosis, clinical management and research.

    PubMed

    Krentz, Andrew J; Hompesch, Marcus

    2016-10-13

    The clinical utility of diabetes biomarkers can be considered in terms of diagnosis, management and prediction of long-term vascular complications. Glucose satisfies all of these requirements. Thresholds of hyperglycemia diagnostic of diabetes reflect inflections that confer a risk of developing long-term microvascular complications. Degrees of hyperglycemia (impaired fasting glucose, impaired glucose tolerance) that lie below the diagnostic threshold for diabetes identify individuals at risk of progression to diabetes and/or development of atherothrombotic cardiovascular disease. Self-measured glucose levels usefully complement hemoglobin A1c levels to guide daily management decisions. Continuous glucose monitoring provides detailed real-time data that is of value in clinical decision making, assessing response to new diabetes drugs and the development of closed-loop artificial pancreas technology.

  16. Environmental Enteric Dysfunction: Pathogenesis, Diagnosis, and Clinical Consequences

    PubMed Central

    Keusch, Gerald T.; Denno, Donna M.; Black, Robert E.; Duggan, Christopher; Guerrant, Richard L.; Lavery, James V.; Nataro, James P.; Rosenberg, Irwin H.; Ryan, Edward T.; Tarr, Phillip I.; Ward, Honorine; Bhutta, Zulfiqar A.; Coovadia, Hoosen; Lima, Aldo; Ramakrishna, Balakrishnan; Zaidi, Anita K. M.; Hay Burgess, Deborah C.; Brewer, Thomas

    2014-01-01

    Stunting is common in young children in developing countries, and is associated with increased morbidity, developmental delays, and mortality. Its complex pathogenesis likely involves poor intrauterine and postnatal nutrition, exposure to microbes, and the metabolic consequences of repeated infections. Acquired enteropathy affecting both gut structure and function likely plays a significant role in this outcome, especially in the first few months of life, and serve as a precursor to later interactions of infection and malnutrition. However, the lack of validated clinical diagnostic criteria has limited the ability to study its role, identify causative factors, and determine cost-effective interventions. This review addresses these issues through a historical approach, and provides recommendations to define and validate a working clinical diagnosis and to guide critical research in this area to effectively proceed. Prevention of early gut functional changes and inflammation may preclude or mitigate the later adverse vicious cycle of malnutrition and infection. PMID:25305288

  17. Applying time, frequency and nonlinear features from nocturnal oximetry to OSA diagnosis.

    PubMed

    Alvarez, Daniel; Hornero, Roberto; Victor Marcos, J; Del Campo, Felix; Zamarron, Carlos; Lopez, Miguel

    2008-01-01

    This study is aimed to improve the diagnostic ability of blood oxygen saturation (SaO(2)) in obstructive sleep apnea (OSA) detection. We studied 74 patients suspected of suffering from OSA. Ten characteristics were derived from each SaO2 recording: arithmetic mean, variance, skewness and kurtosis from both time and frequency domains, central tendency measure and Lempel-Ziv complexity. The diagnostic ability of each feature was assessed by means of a receiver operating characteristics (ROC) analysis. Additionally, forward stepwise logistic regression (LR) was applied. The kurtosis in the time domain and the nonlinear measure of complexity were automatically selected. This methodology reached 93.2% sensitivity, 80.0% specificity and 87.8% accuracy, improving the results from each feature individually. Our study showed that common statistics in the time and frequency domains and nonlinear features could provide additional and complementary information to help in OSA diagnosis.

  18. Marked overlap of four genetic syndromes with dyskeratosis congenita confounds clinical diagnosis

    PubMed Central

    Walne, Amanda J.; Collopy, Laura; Cardoso, Shirleny; Ellison, Alicia; Plagnol, Vincent; Albayrak, Canan; Albayrak, Davut; Kilic, Sara Sebnem; Patıroglu, Turkan; Akar, Haluk; Godfrey, Keith; Carter, Tina; Marafie, Makia; Vora, Ajay; Sundin, Mikael; Vulliamy, Thomas; Tummala, Hemanth; Dokal, Inderjeet

    2016-01-01

    Dyskeratosis congenita is a highly pleotropic genetic disorder. This heterogeneity can lead to difficulties in making an accurate diagnosis and delays in appropriate management. The aim of this study was to determine the underlying genetic basis in patients presenting with features of dyskeratosis congenita and who were negative for mutations in the classical dyskeratosis congenita genes. By whole exome and targeted sequencing, we identified biallelic variants in genes that are not associated with dyskeratosis congenita in 17 individuals from 12 families. Specifically, these were homozygous variants in USB1 (8 families), homozygous missense variants in GRHL2 (2 families) and identical compound heterozygous variants in LIG4 (2 families). All patients had multiple somatic features of dyskeratosis congenita but not the characteristic short telomeres. Our case series shows that biallelic variants in USB1, LIG4 and GRHL2, the genes mutated in poikiloderma with neutropenia, LIG4/Dubowitz syndrome and the recently recognized ectodermal dysplasia/short stature syndrome, respectively, cause features that overlap with dyskeratosis congenita. Strikingly, these genes also overlap in their biological function with the known dyskeratosis congenita genes that are implicated in telomere maintenance and DNA repair pathways. Collectively, these observations demonstrate the marked overlap of dyskeratosis congenita with four other genetic syndromes, confounding accurate diagnosis and subsequent management. This has important implications for establishing a genetic diagnosis when a new patient presents in the clinic. Patients with clinical features of dyskeratosis congenita need to have genetic analysis of USB1, LIG4 and GRHL2 in addition to the classical dyskeratosis congenita genes and telomere length measurements. PMID:27612988

  19. Clinical and metabolic features of urolithiasis and microlithiasis in children.

    PubMed

    Alpay, Harika; Ozen, Ahmet; Gokce, Ibrahim; Biyikli, Nese

    2009-11-01

    We evaluated the clinical, radiological and metabolic features of 162 children with urolithiasis or microlithiasis who had been referred to our pediatric nephrology clinics between 1998 and 2008 with suspected urolithiasis. The medical histories of these children (78 girls, 84 boys), who ranged in age from 2 months to 16 years (mean age 5.59 +/- 0.35 years), were reviewed retrospectively for clinical and metabolic features of urinary tract calculi. Urinary tract infections (UTI) were present in 45.9% of the cases. The most common presenting symptoms were flank pain or restlessness (25.3%) and hematuria (21.6%), followed by UTI (16%), whereas 23.5% of the cases were detected incidentally during evaluation for other medical conditions. Other symptoms at presentation included dysuria, passing stones, penile edema, enuresis, vomiting and anorexia. Urine analysis revealed metabolic abnormalities in 87% of the cases, including hypercalciuria (33.8%), hypocitraturia (33.1%), hyperoxaluria (26.5%), hyperuricosuria (25.4%), hypocitraturia + hypercalciuria (21.1%), hyperphosphaturia (20.8%) and cystinuria (5.7%). Almost 50% of the patients had a positive family history for urolithiasis. The most frequently involved site was in the kidneys (86%). Ureters and bladder were involved in 12 and 2% of the cases, respectively. A family history of urolithiasis, presenting symptoms and underlying metabolic abnormalities were similar for microlithiasis and the patients with larger stones. However, in our study population, microlithiasis was mainly a disease of young infants, with a greater chance for remission and often not associated with structural changes. The presenting symptoms of urolithiasis show a wide spectrum, so that a high index of suspicion is important for early detection. A metabolic abnormality can be identified in 87% of cases of urolithiasis. Detection of microlithiasis may explain a number of symptoms, thus reducing invasive diagnostic procedures and allowing early

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

    PubMed

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

    2014-09-01

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

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

    PubMed Central

    Arboix, Adrià; Alió, Josefina

    2010-01-01

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

  2. Computer-aided diagnosis of rheumatoid arthritis with optical tomography, Part 1: feature extraction.

    PubMed

    Montejo, Ludguier D; Jia, Jingfei; Kim, Hyun K; Netz, Uwe J; Blaschke, Sabine; Müller, Gerhard A; Hielscher, Andreas H

    2013-07-01

    This is the first part of a two-part paper on the application of computer-aided diagnosis to diffuse optical tomography (DOT). An approach for extracting heuristic features from DOT images and a method for using these features to diagnose rheumatoid arthritis (RA) are presented. Feature extraction is the focus of Part 1, while the utility of five classification algorithms is evaluated in Part 2. The framework is validated on a set of 219 DOT images of proximal interphalangeal (PIP) joints. Overall, 594 features are extracted from the absorption and scattering images of each joint. Three major findings are deduced. First, DOT images of subjects with RA are statistically different (p<0.05) from images of subjects without RA for over 90% of the features investigated. Second, DOT images of subjects with RA that do not have detectable effusion, erosion, or synovitis (as determined by MRI and ultrasound) are statistically indistinguishable from DOT images of subjects with RA that do exhibit effusion, erosion, or synovitis. Thus, this subset of subjects may be diagnosed with RA from DOT images while they would go undetected by reviews of MRI or ultrasound images. Third, scattering coefficient images yield better one-dimensional classifiers. A total of three features yield a Youden index greater than 0.8. These findings suggest that DOT may be capable of distinguishing between PIP joints that are healthy and those affected by RA with or without effusion, erosion, or synovitis.

  3. Infantile nystagmus syndrome: clinical characteristics, current theories of pathogenesis, diagnosis, and management.

    PubMed

    Richards, Michael D; Wong, Agnes

    2015-12-01

    Infantile nystagmus syndrome (INS) is an important clinical diagnosis because it is a common presenting sign of many ocular, neurologic, and systemic diseases. Although INS has been studied for more than a century, its diagnosis and treatment remains a challenge to clinicians because of its varied manifestations and multiple associations, and its pathogenesis continues to rouse considerable scientific debate. Fueled by these challenges, recent basic research and clinical investigations have provided new insights into INS. New genetic discoveries and technological advances in ocular imaging have refined our understanding of INS subtypes and offer new diagnostic possibilities. Unexpected surgical outcomes have led to new understanding of its pathogenesis based on novel hypothesized pathways of ocular motor control. Comparative studies on nonhuman visual systems have also informed models of the neural substrate of INS in humans. This review brings together the classic profile of this disorder with recent research to provide an update on the clinical features of INS, an overview of the current theories on how and why INS develops, and a practical approach to the diagnosis and management of INS.

  4. The Clinical Diagnosis and Management of Kawasaki Disease: a Review and Update.

    PubMed

    Zhu, Frank H; Ang, Jocelyn Y

    2016-09-01

    Kawasaki disease is an acute, self-limited vasculitis of childhood and has become the leading cause of acquired pediatric heart disease in the USA. Prompt treatment is essential in reducing cardiac-related morbidity and mortality. The underlying etiology remains unknown. The disease itself may be the characteristic manifestation of a common pathway of immune-mediated vascular inflammation in susceptible hosts. The characteristic clinical features of fever for at least 5 days with bilateral nonpurulent conjunctivitis, rash, changes in lips and oral cavity, changes in peripheral extremities, and cervical lymphadenopathy remain the mainstay of diagnosis. Supplementary laboratory criteria can aid in the diagnosis, particularly in cases of incomplete clinical presentation. Diagnosis of Kawasaki disease can be challenging as the clinical presentation can be mistaken for a variety of other pediatric illnesses. Standard of care consists of intravenous immune globulin and aspirin. Corticosteroids, infliximab, and cyclosporine A have been used as adjunct therapy for Kawasaki disease refractory to initial treatment. There is ongoing research into the use of these agents in the initial therapy of Kawasaki disease.

  5. Genetic epidemiology, hematological and clinical features of hemoglobinopathies in Iran.

    PubMed

    Rahimi, Zohreh

    2013-01-01

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

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

    PubMed Central

    2011-01-01

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

  7. Clinical Features of Severe or Fatal Mycoplasma pneumoniae Pneumonia

    PubMed Central

    Izumikawa, Koichi

    2016-01-01

    Mycoplasma pneumoniae is one of the most common causes of community-acquired pneumonia in children and young adults. The incidence of fulminant M. pneumoniae pneumonia (MPP) is relatively rare despite the high prevalence of M. pneumoniae infection. This literature review highlights the clinical features of fulminant MPP by examining the most recent data in epidemiology, clinical presentation, pathogenesis, and treatment. Fulminant MPP accounts for 0.5–2% of all MPP cases and primarily affects young adults with no underlying disease. Key clinical findings include a cough, fever, and dyspnea along with diffuse abnormal findings in radiological examinations. Levels of inflammatory markers such as white blood cells and C-reactive protein are elevated, as well as levels of lactate dehydrogenase, IL-18, aspartate transaminase, and alanine transaminase. The exact pathogenesis of fulminant MPP remains unclear, but theories include a delayed hypersensitivity reaction to M. pneumoniae and the contribution of delayed antibiotic administration to disease progression. Treatment options involve pairing the appropriate anti-mycoplasma agent with a corticosteroid that will downregulate the hypersensitivity response, and mortality rates are quite low in this treatment group. Further research is necessary to determine the exact pathogenesis of severe and fulminant types of MPP. PMID:27313568

  8. Clinical, radiological and molecular diagnosis correlation in serum samples from patients with osteoarticular tuberculosis

    PubMed Central

    García-Elorriaga, Guadalupe; Martínez-Elizondo, Olga; del Rey-Pineda, Guillermo; González-Bonilla, César

    2014-01-01

    Objective To assess the role of polymerase chain reaction (PCR) in serum samples, in the diagnosis of osteoarticular tuberculosis (OTB) in a setting where only clinical and imaging diagnoses determine the treatment. Methods A total of 44 consecutive serum specimens were collected from clinically suspected OTB patients, based on clinical and radiological [X-ray or magnetic resonance imaging/computed tomography] features. They were screened by in-house nested PCR. In addition, a few specimens were examined by Gram stain, acid-fast bacilli stain, histopathology and routine bacterial culture. A total of 39 specimens were collected from patients suffering from other bone diseases of nontuberculous origin and included as negative controls. Results Of the 44 clinically suspected OTB patients, in-house nested PCR was positive in 40 (91%) cases; PCR was negative in 38 (97%) negative controls. Sensitivity and specificity of our in-house nested PCR was 90.9% and 97.4%, respectively. The PCR report was available within 48 h. It was possible to standardize serum PCR technique and in positive cases, a good correlation was observed in terms of an adequate treatment response. Conclusions Nested PCR in serum samples is a rapid, highly sensitive and specific modality for OTB detection. PCR should be performed in addition to clinical evaluation, imaging studies, acid-fast bacilli staining, culture and histopathology diagnosis, if possible. PMID:25183281

  9. Variable expressivity and clinical heterogeneity can complicate the diagnosis and management of Pfeiffer syndrome.

    PubMed

    Ettinger, Nicholas; Williams, Misti; Phillips, John A

    2013-01-01

    We report here a newborn female infant with striking features consistent with severe Pfeiffer syndrome (PS). Pfeiffer syndrome is a rare craniofacial disorder that has an autosomal dominant mode of inheritance (OMIM 101600). Our patient had unexpected differences between her clinical features and those predicted from her genetic tests. The following clinical features were noted: severe exophthalmos, syndactyly, upper extremity contractures, and relative macroglossia. A head computed tomography with three-dimensional reconstruction showed that she did not have craniosynostosis. Genetic tests included a normal 46,XX karyotype and a chromosomal microarray that revealed a copy number gain at 14q23.1 as well as a copy number loss at 16p13.2. FGFR2 sequencing revealed a c.870G>T transversion in exon 8, which is predicted to encode a Trp290Cys substitution.The clinical features of severe exophthalmos and other features typical of PS without craniosynostosis were most consistent with a diagnosis of PS type III. However, her Trp290Cys FGFR2 mutation is reported to be associated with PS type II that includes kleeblatschädel (or "cloverleaf") skull anomalies as a cardinal feature. Our patient's lack of craniosynostosis predicted from this mutation is a striking example of variable expressivity. Such discrepancies between the physical findings (phenotype) and the mutation identified (genotype) and the association of different findings with different mutations in the same gene (clinical heterogeneity) can present difficulties in case management. Clinicians should be guided by careful phenotyping rather than by genotypic predictions alone.

  10. Epidemiological features of amyotrophic lateral sclerosis in a large clinic-based African American population.

    PubMed

    Kazamel, Mohamed; Cutter, Gary; Claussen, Gwendolyn; Alsharabati, Mohammad; Oh, Shin J; Lu, Liang; King, Peter H

    2013-09-01

    Our objective was to identify the main clinical and epidemiological features of ALS in a large cohort of African American (AA) patients and compare them to Caucasian (CA) patients in a clinic-based population. We retrospectively identified 207 patients who were diagnosed with ALS based on the revised El Escorial criteria (60 AA and 147 CA subjects). Patients were seen in the Neuromuscular Division at the University Medical Center. We compared epidemiological and clinical features of these two groups, focusing on age of onset and diagnosis, clinical presentation and survival. Results showed that AA patients had a significantly younger age of disease onset (55 years vs. 61 years for CA, p = 0.011) and were diagnosed at an earlier age (56 years vs. 62 years, p = 0.012). In younger ALS patients (< 45 years of age), there was a significant difference in gender frequency, with females predominating in the AA population and males in the CA population (p = 0.025). In a multivariable Cox proportional hazard model, survival rates were not different between the groups. In both groups, survival significantly increased with younger age. In conclusion, AA patients presented at an earlier age, but there was no difference in survival compared to CA patients. A gender reversal occurred in younger ALS patients, with AA patients more likely to be female and CA patients more likely to be male.

  11. Clinical features of chronic granulomatous disease: a series of 26 patients from a single center.

    PubMed

    Turul-Ozgür, Tuba; Türkkani-Asal, Gülten; Tezcan, Ilhan; Köker, M Yavuz; Metin, Ayşe; Yel, Leman; Ersoy, Fügen; Sanal, Ozden

    2010-01-01

    Chronic granulomatous disease is a genetically determined immunodeficiency disorder affecting phagocytic cells rendering them unable to kill certain bacteria and fungi. The present study is a single-center retrospective study that aimed to document the clinical course of 26 children, with a median age of 2.5 years, from 21 families diagnosed as chronic granulomatous disease from 1989-2008. A median delay of 39 months was observed between the onset of infections and age at diagnosis. Pneumonia was the most common initial manifestation of the disease followed by lymphadenitis, skin abscess and diarrhea. An AR inheritance was predominant in the study group. All patients received antibacterial and antifungal prophylaxis, resulting in a marked decrease in the incidence of infections. Overall mortality was 19.2%. These results showed that all features in our group (clinical, progression and outcome) were similar to the literature except for the predominance of autosomal recessive form.

  12. Chromoblastomycosis: an overview of clinical manifestations, diagnosis and treatment.

    PubMed

    Queiroz-Telles, Flavio; Esterre, Phillippe; Perez-Blanco, Maigualida; Vitale, Roxana G; Salgado, Claudio Guedes; Bonifaz, Alexandro

    2009-02-01

    Chromoblastomycosis is one of the most frequent infections caused by melanized fungi. It is a subcutaneous fungal infection, usually an occupational related disease, mainly affecting individuals in tropical and temperate regions. Although several species are etiologic agents, Fonsecaea pedrosoi and Cladophialophora carrionii are prevalent in the endemic areas. Chromoblastomycosis lesions are polymorphic and must be differentiated from those associated with many clinical conditions. Diagnosis is confirmed by the observation of muriform cells in tissue and the isolation and the identification of the causal agent in culture. Chromoblastomycosis still is a therapeutic challenge for clinicians due to the recalcitrant nature of the disease, especially in the severe clinical forms. There are three treatment modalities, i.e., physical treatment, chemotherapy and combination therapy but their success is related to the causative agent, the clinical form and severity of the chromoblastomycosis lesions. There is no treatment of choice for this neglected mycosis, but rather several treatment options. Most of the patients can be treated with itraconazole, terbinafine or a combination of both. It is also important to evaluate the patient's individual tolerance of the drugs and whether the antifungal will be provided for free or purchased, since antifungal therapy must be maintained in long-term regimens. In general, treatment should be guided according to clinical, mycological and histopathological criteria.

  13. Trichotillomania: a case report with clinical and dermatoscopic differential diagnosis with alopecia areata*

    PubMed Central

    Pinto, Ana Cecília Versiani Duarte; de Andrade, Tatiana Cristina Pedro Cordeiro; de Brito, Fernanda Freitas; da Silva, Gardênia Viana; Cavalcante, Maria Lopes Lamenha Lins; Martelli, Antonio Carlos Ceribelli

    2017-01-01

    Trichotillomania is a psychodermatologic disorder characterized by uncontrollable urge to pull one's own hair. Differential diagnoses include the most common forms of alopecia such as alopecia areata. It is usually associated with depression and obsessive-compulsive disorder. Trichotillomania treatment standardization is a gap in the medical literature. Recent studies demonstrated the efficacy of N-acetylcysteine (a glutamate modulator) for the treatment of the disease. We report the clinical case of a 12-year-old female patient who received the initial diagnosis of alopecia areata, but presented with clinical and dermoscopic features of trichotillomania. She was treated with the combination of psychotropic drugs and N-acetylcysteine with good clinical response. Due to the chronic and recurring nature of trichotillomania, more studies need to be conducted for the establishment of a formal treatment algorithm. PMID:28225970

  14. Diagnosis of streptococcal pharyngotonsillitis in children and adolescents: clinical picture limitations☆

    PubMed Central

    Barbosa, Aurelino Rocha; Oliveira, Cláudia Di Lorenzo; Fontes, Maria Jussara Fernandes; Lasmar, Laura Maria de Lima Bezário Facury; Camargos, Paulo Augusto Moreira

    2014-01-01

    OBJECTIVE: To assess the utility of clinical features for diagnosis of streptococcal pharyngotonsillitis in pediatrics. METHODS: A total of 335 children aged 1-18 years old and presenting clinical manifestations of acute pharyngotonsillitis (APT) were subjected to clinical interviews, physical examinations, and throat swab specimen collection to perform cultures and latex particle agglutination tests (LPATs) for group A streptococcus (GAS) detection. Signs and symptoms of patients were compared to their throat cultures and LPATs results. A clinical score was designed based on the multivariate logistic regression analysis and also was compared to throat cultures and LPATs results. Positive throat cultures and/or LPATs results were used as a reference standard to establish definitive streptococcal APT diagnosis. RESULTS: 78 children (23.4%) showed positivity for GAS in at least one of the two diagnostic tests. Coryza absence (odds ratio [OR]=1.80; p=0.040), conjunctivitis absence (OR=2.47; p=0.029), pharyngeal erythema (OR=3.99; p=0.006), pharyngeal exudate (OR=2.02; p=0.011), and tonsillar swelling (OR=2.60; p=0.007) were significantly associated with streptococcal pharyngotonsilitis. The highest clinical score, characterized by coryza absense, pharyngeal exudate, and pharyngeal erythema had a 45.6% sensitivity, a 74.5% especificity, and a likelihood ratio of 1.79 for streptococcal pharyngotonsilitis. CONCLUSIONS: Clinical presentation should not be used to confirm streptococcal pharyngotonsilitis, because its performance as a diagnostic test is low. Thus, it is necessary to enhance laboratory test availability, especially of LPATs that allow an acurate and fast diagnosis of streptococcal pharyngotonsilitis. PMID:25510990

  15. Clinical features and management of Hadronyche envenomation in man.

    PubMed

    Miller, M K; Whyte, I M; White, J; Keir, P M

    2000-03-01

    Using case reports and a review of the literature, the clinical features of envenomation by the genus of Australian funnel web spiders known as Hadronyche, are characterised. Five cases are reported here, including the first life-threatening envenomation by Hadronyche species 14 (the Port Macquarie funnel web). Two severe envenomations by Hadronyche cerberea (the Southern Tree funnel web) and one each by Hadronyche formidabilis (the Northern Tree funnel web) and Hadronyche infensa (the Darling Downs funnel web) are also described. The clinical experience of the authors' provided the five cases described in detail one of which has previously been reported in brief. Eight cases of Hadronyche envenomation from the literature (Medline 1966-1998 and Embase 1980-1998) were analysed in order to draw comparisons between this syndrome and the well described envenomation syndrome of Atrax robustus (the Sydney funnel web). Reports of funnel web spider antivenom use to Commonwealth Serum Laboratories (CSL) between 1995 and June 1998 were also examined. The biology of these dangerous spiders, their geographic distribution, venom characteristics and management issues are addressed. It is concluded that bites from at least six Hadronyche species have produced a life-threatening envenomation syndrome clinically indistinguishable from that of Atrax robustus. Atrax robustus derived antivenom is effective although antivenom requirements may be greater than for Atrax envenomation. Antivenom supplies are limited and sufficient stocks to treat a severe envenomation are unlikely to be found in any one institution. Pressure-immobilisation first aid is effective in delaying onset of envenomation, may enhance local inactivation of venom and early removal can result in rapid clinical deterioration.

  16. Clinical features of soft bipolarity in major depressive inpatients.

    PubMed

    Utsumi, Takeshi; Sasaki, Tsukasa; Shimada, Iwao; Mabuchi, Mayuko; Motonaga, Takuro; Ohtani, Toshiyuki; Tochigi, Mamoru; Kato, Nobumasa; Nanko, Shinichiro

    2006-10-01

    Because of the difficulties of ascertaining episode of hypomania by past history of the patients, it is of clinical value to find variables which predict the development of bipolar II disorder in depressive patients. Taking advantage of relatively long hospitalization, the authors tried to elucidate fine clinical features of the soft bipolarity. The subjects were 39 patients with Major Depressive Episode, diagnosed according to the 4th edition of the Diagnostic and Statistical Manual criteria. Among them, 15 patients were diagnosed as bipolar II disorder (BPII), whereas 24 patients were with unipolar depression (UP), using a structured clinical interview to assess the mood spectrum (SCI-MOODS). In addition to ordinary clinical and demographic variables, the authors studied fine symptomatology of depression, premorbid personality, and interpersonal relationship. Continuous variables were analyzed by t-test. Categorical variables were tested by chi2 analysis. In terms of premorbid personality, manic type (Zerssen) was found more frequently in BPII (UP 2/24, BPII 9/15, P < 0.05). Patients with BPII tended to show apparently quick disappearance of depressive symptoms (UP 2/24, BPII 9/15, P = 0.01). The most prominent result was a high prevalence of comorbidity of borderline personality disorder (BPD) among BPII (UP 0/24, BPII 6/15, P = 0.02). As Akiskal indicated that mood lability represents the most powerful predictor of hypomanias, patients with BPII showed quick response in mood to admission. The current subjects with BPII had high frequency of manic type of premorbid personality, indicating the usefulness of this variable for the prediction of hypomanias. Finally, the authors could observe development of BPD during hospitalization exclusively among BPII, to support the possibility of BPD as a state effect of BPII.

  17. [Features of Clinical Register of Chinese Medicine and Pharmacy Based on ClinicalTrials.gov. (USA)].

    PubMed

    Lu, Peng-fei; Liao, Xing; Xie, Yan-ming; Wang, Zhi-guo

    2015-11-01

    In recent 10 years, clinical trials of Chinese medicine and pharmacy (cMP) at clinicalTrials.gov.(USA) are gradually increasing. In order to analyze features of CMP clinical register, ClinicalTrials.gov register database were comprehensively retrieved in this study. Included clinical trials were input one item after another using EXCEL. A final of 348 CMP clinical trials were included. Results showed that China occupied the first place in CMP clinical register, followed by USA. CMP clinical trials, sponsored mainly by colleges/universities and hospitals, mostly covered interventional studies on evaluating safety/effectiveness of CMP. The proportions of studies, sponsored by mainland China and companies, recruitment trials and multi-center clinical trials in interventional trials were increasing. The proportions of studies sponsored by Hong Kong and Taiwan, research completed trials, unclear research status, phase III clinical trials, and published research trials in interventional trials were decreasing. Published ratios of CMP clinical trials were quite low. There were more missing types and higher proportions in trial register information.

  18. The Clinical Manifestations, Diagnosis and Management of Williams-Campbell Syndrome

    PubMed Central

    Noriega Aldave, Adrian Pedro; William Saliski, DO

    2014-01-01

    Williams-Campbell syndrome is a rare congenital syndrome characterized by the absence of cartilage in subsegmental bronchi leading to formation of bronchiectasis distal to the affected bronchi. The differential diagnosis of bronchiectasis is broad and the rarity of the disease poses a diagnostic and management challenge for clinicians. This present review aims to help the understanding of the clinical manifestations, pathophysiological features, diagnostic modalities, management and differential diagnosis of Williams-Campbell syndrome. A MedLine/PubMed search was performed identifying all relevant articles. No restrictions were used for publication dates. The author used the keywords “Williams-Campbell syndrome,” “non-cystic fibrosis bronchiectasis” and “congenital bronchiectasis” finding 503, 195 and 489 articles, respectively. PMID:25317385

  19. Pachydermoperiostosis, a unique entity with distinctive clinical features.

    PubMed

    Tinoco-Fragoso, Fátima; Méndez-Flores, Silvia; Domínguez-Cherit, Judith

    2015-05-18

    Pachydermoperiostosis, which occurs more frequently in men, is a rare entity with distinctive clinical features and an insidious onset.. We report the case of a 30-year-old man with a one-year history of acropachy, arthralgias, hiperhidrosis, and progressive skin thickening of the face and scalp. The radiological findings were consistent with periostosis and the histopathological analysis from a facial skin biopsy showed a pandermal increase in the thickness and number of collagen bundles. The pathogenesis of PDP is currently unknown, although an increased secretion of prostaglandin E2 (PGE2), which stimulates the overexpression of vascular endothelial growth factor (VEGF), has been suggested as a major factor. No specific treatment exists; however, in most cases, the disease tends to stabilize over time.

  20. Clinical features of cystic fibrosis patients with rare genotypes.

    PubMed Central

    Castaldo, G; Rippa, E; Raia, V; Salvatore, D; Massa, C; de Ritis, G; Salvatore, F

    1996-01-01

    We describe the clinical features of seven cystic fibrosis patients from southern Italy who bear rare genotypes: (1) a patient homozygous for the 2183 AA-->G mutation who was affected by a very early pulmonary form of cystic fibrosis, and five patients who were compound heterozygotes either for the 2183 AA-->G mutation or for the I148T mutation, in both instances with the delta F508 mutation; and (2) a patient homozygous for the early nonsense R553X mutation who showed only a moderately severe form of cystic fibrosis. Our results confirm that environmental or genetic factors unrelated to the CF disease contribute significantly to the development of the phenotype. Images PMID:8825054

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

    PubMed

    Chiba, Shigeru; Tamura, Yoshiyuki

    2015-06-01

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

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

    PubMed

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

    2014-12-01

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

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

    PubMed

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

    2007-03-01

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

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

    PubMed

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

    2015-12-01

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

  5. Clinical Features and Awareness of Hand Eczema in Korea

    PubMed Central

    Park, Jae Beom; Lee, Seung Ho; Kim, Kea Jeung; Lee, Ga-Young; Yang, Jun-Mo; Kim, Do Won; Lee, Seok Jong; Lee, Cheol Heon; Park, Eun Joo; Kim, Kyu Han; Eun, Hee Chul; Chang, Sung Eun; Moon, Kee Chan; Kim, Seong Hyun; Kim, Seong Jin; Kim, Byung-Soo; Lee, Jun Young; Kim, Hyung-Ok; Kang, Hoon; Lee, Min Geol; Kim, Soo-Chan; Ro, Young Suck; Ko, Joo Yeon; Park, Mi Youn; Kim, Myung Hwa; Shin, Jeong Hyun; Choi, Hae Young; Hong, Chang Kwun; Lee, Sung Yul; Bak, Hana

    2016-01-01

    Background Hand eczema is one of the most common skin disorders and negatively affects quality of life. However, a large-scale multicenter study investigating the clinical features of patients with hand eczema has not yet been conducted in Korea. Objective To identify the prevalence of various hand diseases, which is defined as all cutaneous disease occurring in hands, and to investigate the clinical features of patients with hand eczema and the awareness about hand eczema in the general population and to compare the prevalence of hand eczema between health care providers and non-health care providers. Methods To estimate the prevalence of hand diseases, we analyzed the medical records of patients from 24 medical centers. Patients were assessed by online and offline questionnaires. A 1,000 from general population and 913 hand eczema patients answered the questionnaire, for a total of 1,913 subjects. Results The most common hand disease was irritant contact dermatitis. In an online survey, the lifetime prevalence of hand eczema was 31.2%. Hand eczema was more likely to occur in females (66.0%) and younger (20~39 years, 53.9%). Health care providers and housewives were the occupations most frequently associated with hand eczema. Winter (33.6%) was the most common season which people experienced aggravation. The 63.0% and 67.0% answered that hand eczema hinders their personal relationship and negatively affects daily living activities, respectively. Conclusion Hand eczema is a very common disease and hinders the quality of life. The appropriate identification of hand eczema is necessary to implement effective and efficient treatment. PMID:27274632

  6. Contourlet Textual Features: Improving the Diagnosis of Solitary Pulmonary Nodules in Two Dimensional CT Images

    PubMed Central

    Wang, Jingjing; Sun, Tao; Gao, Ni; Menon, Desmond Dev; Luo, Yanxia; Gao, Qi; Li, Xia; Wang, Wei; Zhu, Huiping; Lv, Pingxin; Liang, Zhigang; Tao, Lixin; Liu, Xiangtong; Guo, Xiuhua

    2014-01-01

    Objective To determine the value of contourlet textural features obtained from solitary pulmonary nodules in two dimensional CT images used in diagnoses of lung cancer. Materials and Methods A total of 6,299 CT images were acquired from 336 patients, with 1,454 benign pulmonary nodule images from 84 patients (50 male, 34 female) and 4,845 malignant from 252 patients (150 male, 102 female). Further to this, nineteen patient information categories, which included seven demographic parameters and twelve morphological features, were also collected. A contourlet was used to extract fourteen types of textural features. These were then used to establish three support vector machine models. One comprised a database constructed of nineteen collected patient information categories, another included contourlet textural features and the third one contained both sets of information. Ten-fold cross-validation was used to evaluate the diagnosis results for the three databases, with sensitivity, specificity, accuracy, the area under the curve (AUC), precision, Youden index, and F-measure were used as the assessment criteria. In addition, the synthetic minority over-sampling technique (SMOTE) was used to preprocess the unbalanced data. Results Using a database containing textural features and patient information, sensitivity, specificity, accuracy, AUC, precision, Youden index, and F-measure were: 0.95, 0.71, 0.89, 0.89, 0.92, 0.66, and 0.93 respectively. These results were higher than results derived using the database without textural features (0.82, 0.47, 0.74, 0.67, 0.84, 0.29, and 0.83 respectively) as well as the database comprising only textural features (0.81, 0.64, 0.67, 0.72, 0.88, 0.44, and 0.85 respectively). Using the SMOTE as a pre-processing procedure, new balanced database generated, including observations of 5,816 benign ROIs and 5,815 malignant ROIs, and accuracy was 0.93. Conclusion Our results indicate that the combined contourlet textural features of solitary

  7. Clinical Features of 294 Turkish Patients with Chronic Myeloproliferative Neoplasms

    PubMed Central

    Andıç, Neslihan; Ünübol, Mustafa; Yağcı, Eren; Akay, Olga Meltem; Yavaşoğlu, İrfan; Kadıköylü, Vefki Gürhan; Bolaman, Ali Zahit

    2016-01-01

    Objective: Myeloproliferative neoplasms (MPNs) share common clonal stem cells but show significant differences in their clinical courses. The aim of this retrospective study was to evaluate thrombotic and hemorrhagic complications, JAK2 status, gastrointestinal and cardiac changes, treatment modalities, and survival in MPNs in Turkish patients. Materials and Methods: Medical files of 294 patients [112 essential thrombocythemia (ET), 117 polycythemia vera (PV), 46 primary myelofibrosis, and 19 unclassified MPN cases] from 2 different universities in Turkey were examined. Results: Older age, higher leukocyte count at diagnosis, and JAK2 mutation positivity were risk factors for thrombosis. Platelet count over 1000x109/L was a risk factor for hemorrhagic episodes. Hydroxyurea treatment was not related to leukemic transformation. Median follow-up time was 50 months (quartiles: 22.2-81.75) in these patients. Patients with primary myelofibrosis had the shortest survival of 137 months when compared with 179 months for ET and 231 months for PV. Leukemic transformation, thromboembolic events, age over 60 years, and anemia were found to be the factors affecting survival. Conclusion: Thromboembolic complications are the most important preventable risk factors for morbidity and mortality in MPNs. Drug management in MPNs is done according to hemoglobin and platelet counts. Based on the current study population our results support the idea that leukocytosis and JAK2 positivity are more important risk factors for thrombosis than hemoglobin and platelet values. PMID:27094255

  8. Symptomatic cranial neuralgias in multiple sclerosis: clinical features and treatment.

    PubMed

    De Santi, Lorenzo; Annunziata, Pasquale

    2012-02-01

    In multiple sclerosis, neuropathic pain is a frequent condition, negatively influencing the overall quality of life. Cranial neuralgias, including trigeminal, glossopharyngeal neuralgias, as well as occipital neuralgia, are typical expression of neuropathic pain. Neuralgias are characterised by paroxysmal painful attacks of electric shock-like sensation, occurring spontaneously or evoked by innocuous stimuli in specific trigger areas. In multiple sclerosis, demyelination in the centrally myelinated part of the cranial nerve roots plays an important role in the origin of neuralgic pain. These painful syndromes arising in multiple sclerosis are therefore considered "symptomatic", in contrast to classic cranial neuralgias, in which no cause other than a neurovascular contact is identified. At this time, the evidence on the management of symptomatic cranial neuralgias in multiple sclerosis is fragmentary and a comprehensive review addressing this topic is still lacking. For that reason, treatment is often based on personal clinical experience as well as on anecdotal reports. The aim of this review is to critically summarise the latest findings regarding the pathogenesis, the diagnosis, the instrumental evaluation and the medical as well as neurosurgical treatment of symptomatic trigeminal, glossopharyngeal and occipital neuralgia in multiple sclerosis, providing useful insights for neurologists and neurosurgeons and a broad range of specialists potentially involved in the treatment of these painful syndromes.

  9. Eruption cysts: A series of 66 cases with clinical features

    PubMed Central

    Şen-Tunç, Emine; Şaroğlu-Sönmez, Işıl; Bayrak, Şule; Tüloğlu, Nuray

    2017-01-01

    Background An eruption cyst (EC) is a benign, developmental cyst associated with a primary or permanent tooth. This paper presents 66 ECs in 53 patients who reported to 3 different centers in Turkey between 2014-2015. Material and Methods 53 patients (31 male, 22 female) with 66 ECs were diagnosed and treated over a 1-year period. The mean age of patients was 5.4 years (minimum 5 months, maximum 11 years). Clinical examination and periapical radiographs were used to establish diagnosis. Age, gender, site, history of trauma and type of treatment were recorded. Results Of the 66 ECs diagnosed in 53 patients, more than half (56.6%) were located in the maxilla, with the maxillary first primary molars the teeth most commonly associated with ECs (30.3%). Multiple ECs were diagnosed in 13 of the 53 patients. ECs had previously diagnosed in the primary dentition of 2 patients, 3 patients reported a history of trauma to primary teeth. In the majority of patients (46 cases, 86.8%), no treatment was provided, whereas surgical treatment was provided in the remaining 7 cases (13.2%). Conclusions Eruption cysts are usually asymptomatic and do not require treatment;. however, if the cyst is symptomatic, it should be treated with simple surgical excision. Key words:Odontogenic cyst, children, eruption cyst, oral pathology. PMID:28160586

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

    PubMed

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

    2013-07-01

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

  11. Folliculotropic Mycosis Fungoides: Clinical and Histologic Features in Five Patients

    PubMed Central

    Ehsani, Amir Hooshang; Azizpour, Arghavan; Noormohammadpoor, Pedram; Seirafi, Hasan; Farnaghi, Farshad; Kamyab-Hesari, Kambiz; Sharifi, Mehdi; Nasimi, Maryam

    2016-01-01

    Background: Alopecia can be a manifestation of mycosis fungoides (MF); however, the prevalence is unknown. Aims: We sought to describe the clinicopathologic presentation of alopecia in patients with diagnosis of MF. Methods: A retrospective analysis of patients with biopsy-proven MF, who were evaluated at our cancer center from 2002 to 2012, was performed to identify patients with alopecia. Results: Five patients with alopecia were identified from reviewing of 157 patients with MF. The male:female ratio was 3:2, and the mean age of patients was 42.8 years. Two of these patients showed patchy hair loss on scalp which was clinically identical to alopecia areata. In remaining three patients, hair loss was seen in areas of MF lesions, and epidermal changes consisted of patch- and plaque-type lesions of MF, tumors, and follicular lesions (follicular MF) were also present. In two of these patients, lymphadenopathy without any visceral involvement was detected. Conclusions: Alopecia was observed in 5 (3.18%) patients with MF, which makes it a rare finding, which included alopecia areata-like patchy loss in 2 and alopecia within MF lesions in 3. PMID:27688448

  12. Diagnosis of MS: a comparison of three different clinical settings.

    PubMed

    Porter, B; Keenan, E; Record, E; Thompson, A J

    2003-10-01

    In order to compare a newly established diagnostic clinic with two existing clinical settings in the management of the diagnostic phase of multiple sclerosis (MS), a retrospective audit was performed over a 12-month period comparing the length of time, adherence to recently published standards and price charged in diagnosing MS in three different clinical diagnostic settings operating within the same hospital: a specifically designed demyelinating disease diagnostic clinic (DDC), a general neurology clinic (GNC) and an inpatient investigation unit (IIU). An audit tool was created to measure the standards advocated by the UK MS Society on management of the diagnostic phase of MS. The costing tool was the price charged to health authorities. A randomized retrospective case note and referral letter review method was used. The entry criterion was a confirmed diagnosis of MS documented in the medical notes following investigation during the period April 1999-April 2001. The time between referral and first appointment favoured the DDC with a mean time of 5.9 weeks, compared to 7.7 weeks for the GNC and 10.0 weeks for the IIU. The mean times between the first appointment and receipt of results were 4.7 weeks (DDC), 18.8 weeks (GNC) and 21.2 weeks (IIU). Prices ranged from pounds sterling 395-pounds sterling 790 (DDC), pounds sterling 95-pounds sterling 380 (GNC) and pounds sterling 1940-pounds sterling 2700 (IIU). This study suggests that the UK MS Society standards are achievable in most areas without excessive additional costs and provides evidence that the DDC offers a better service than other existing models.

  13. Clinical diagnosis versus autopsy findings in polytrauma fatalities

    PubMed Central

    2010-01-01

    Objectives The aim of the study was to determine if differences in clinical diagnosis versus autopsy findings concerning the cause of death in polytrauma fatalities would be detected in 19 cases of fatal polytrauma from a Level 1 trauma centre. Methods Clinical diagnoses determining the cause of death in 19 cases of fatal polytrauma (2007 - 2008) from a Level 1 trauma centre were correlated with autopsy findings. Results In 13 cases (68%), the clinical cause of death and the cause of death as determined by autopsy were congruent. Marginal differences occurred in three (16%) patients while obvious differences in interpreting the cause of death were found in another three (16%) cases. Five fatalities (three with obvious differences and two with marginal differences) were remarked as early death (1-4 h after trauma) and one fatality with marginal differences as late death (>1 week after trauma). Obvious and marginal discrepancies mostly occurred in the early phase of treatment, especially when severely injured patients were admitted to the emergency room undergoing continued cardiopulmonary resuscitation, i. e. limiting diagnostic procedures, and thus the clinical cause of death was essentially determined by basic emergency diagnostics. Conclusions Autopsy as golden standard to define the cause of death in fatal polytrauma varies from the clinical point of view, depending on the patient's pre-existing condition, mechanism of polytrauma, necessity of traumatic cardiopulmonary resuscitation, survival time, and thus the possibility to perform emergency diagnostics. An autopsy should be performed at least in cases of early fatal polytrauma to help establishing the definite cause of death. Moreover, autopsy data should be included in trauma registries as a quality assessment tool. PMID:20977732

  14. Clinical presentation and metabolic features of overt and occult urolithiasis.

    PubMed

    Polito, Cesare; Apicella, Andrea; Marte, Antonio; Signoriello, Giuseppe; La Manna, Angela

    2012-01-01

    Although pediatricians are frequently confronted with patients presenting urolithiasis symptoms without obvious stones, the syndrome of occult urolithiasis may be still viewed with some skepticism. We have compared the clinical and metabolic features of 197 children with obvious calculi, 189 with microcalculi (diameter ≤ 3 mm based on renal sonography), and 114 with symptoms of urolithiasis and normal renal sonography findings. Only microcalculi and normal sonography subjects with a urinary abnormality potentially leading to urolithiasis were included in the study. Age at presentation increased significantly (p = 0.0001) in the groups in the order normal sonography to microcalculi to calculi groups. There was no significant difference among the three groups in terms of family history of urolithiasis, gender distribution, and degree of hypercalciuria, hyperuricosuria, hyperoxaluria, or hypocitraturia. The average frequency of pain attacks of patients with recurrent abdominal pain (RAP) ranged from 3.6 to 4.6 days of pain per month among the three groups, which is four to ninefold lower than that reported for children with functional or organic gastrointestinal RAP. The consistency of many clinical and urinary metabolic characteristics indicates a common underlying disorder in overt and occult urolithiasis. The increase of age at presentation from the normal sonography to microcalculi and calculi groups may reflect progressive crystal accretion leading ultimately to overt stone formation.

  15. Clinical features of schizophrenia with enhanced carbonyl stress.

    PubMed

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

    2014-09-01

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

  16. Eruptive Facial Postinflammatory Lentigo: Clinical and Dermatoscopic Features.

    PubMed

    Cabrera, Raul; Puig, Susana; Larrondo, Jorge; Castro, Alex; Valenzuela, Karen; Sabatini, Natalia

    2016-11-01

    The face has not been considered a common site of fixed drug eruption, and the authors lack dermatoscopic studies of this condition on the subject. The authors sought to characterize clinical and dermatoscopic features of 8 cases of an eruptive facial postinflammatory lentigo. The authors conducted a retrospective review of 8 cases with similar clinical and dermatoscopic findings seen from 2 medical centers in 2 countries during 2010-2014. A total of 8 patients (2 males and 6 females) with ages that ranged from 34 to 62 years (mean: 48) presented an abrupt onset of a single facial brown-pink macule, generally asymmetrical, with an average size of 1.9 cm. after ingestion of a nonsteroidal antiinflammatory drugs that lasted for several months. Dermatoscopy mainly showed a pseudonetwork or uniform areas of brown pigmentation, brown or blue-gray dots, red dots and/or telangiectatic vessels. In the epidermis, histopathology showed a mild hydropic degeneration and focal melanin hyperpigmentation. Melanin can be found freely in the dermis or laden in macrophages along with a mild perivascular mononuclear infiltrate. The authors describe eruptive facial postinflammatory lentigo as a new variant of a fixed drug eruption on the face.

  17. Clinical features and treatment of endophthalmitis after cataract surgery.

    PubMed

    Zhu, J; Li, Z H

    2015-06-18

    The aim of this study was to investigate the clinical features and treatment results of endophthalmitis after cataract surgery. Five patients with endophthalmitis after phacoemulsification with intraocular lens implantation were enrolled in this study. The pathogenesis, clinical manifestation, and surgical outcomes of 5 patients were compared. Three patients were surgically treated with anterior chamber irrigation and vitrectomy with intravitreal injection. The remaining two patients were medically treated with an intravitreal injection of vancomycin and ceftazidime. Treatment results of the five patients were analyzed. Four patients had positive cultures for bacteria (two cases Staphylococcus epidermidis, one case Enterococcus faecalis, and one case head-like Staphylococcus). The culture of the fifth patient did not have bacterial growth. One year following treatment, four patients had restored visual acuity and a clear vitreous cavity. Retinal detachment and other complications were not observed. The remaining patient had a visual acuity of index at 30 cm one year following treatment. For patients with endophthalmitis after cataract surgery, a biochemical laboratory examination should be promptly performed and should include a bacterial culture and drug sensitivity test. When necessary, vitrectomy combined with an intravitreal injection of vancomycin should be performed to treat the infection early and to help retain useful vision.

  18. A unified concept of idiopathic orofacial pain: clinical features.

    PubMed

    Woda, A; Pionchon, P

    1999-01-01

    The main features of atypical facial pain, stomatodynia, atypical odontalgia, and masticatory muscle and temporomandibular joint (TMJ) disorders are compared in this article, which included a search of articles indexed in MEDLINE. The fact that their terminology has been the subject of many debates can be considered a consequence of taxonomic difficulties and uncertainties. Epidemiologic studies indicate marked female predominance for all types of idiopathic orofacial pain. There is also a difference in the age of maximal prevalence between masticatory muscle and TMJ disorders and the other entities. The clinical presentations display several symptoms in common. Pain is oral, perioral, or facial and does not follow a nervous pathway. It has been present for the last 4 to 6 months or has returned periodically in the same form over a period of several months or years. The pain is continuous, has no major paroxysmal character, and is present throughout all or part of the day. It is generally absent during sleep. Clinical, radiographic, or laboratory examination does not reveal any obvious organic cause of pain. There is also a frequent presence of certain psychologic factors, personality traits, or life events. Based on these shared characteristics, a unified concept is proposed. Each of these entities belongs to a group of idiopathic orofacial pain and could be expressed in either the jaws, the buccal mucosa, the teeth, the masticatory muscles, or the TMJ.

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

    SciTech Connect

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

    2012-01-01

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

  20. Clinical practice guideline on diagnosis and treatment of hyponatraemia.

    PubMed

    Spasovski, Goce; Vanholder, Raymond; Allolio, Bruno; Annane, Djillali; Ball, Steve; Bichet, Daniel; Decaux, Guy; Fenske, Wiebke; Hoorn, Ewout J; Ichai, Carole; Joannidis, Michael; Soupart, Alain; Zietse, Robert; Haller, Maria; van der Veer, Sabine; Van Biesen, Wim; Nagler, Evi

    2014-03-01

    Hyponatraemia, defined as a serum sodium concentration <135 mmol/l, is the most common disorder of body fluid and electrolyte balance encountered in clinical practice. It can lead to a wide spectrum of clinical symptoms, from subtle to severe or even life threatening, and is associated with increased mortality, morbidity and length of hospital stay in patients presenting with a range of conditions. Despite this, the management of patients remains problematic. The prevalence of hyponatraemia in widely different conditions and the fact that hyponatraemia is managed by clinicians with a broad variety of backgrounds have fostered diverse institution- and speciality-based approaches to diagnosis and treatment. To obtain a common and holistic view, the European Society of Intensive Care Medicine (ESICM), the European Society of Endocrinology (ESE) and the European Renal Association - European Dialysis and Transplant Association (ERA-EDTA), represented by European Renal Best Practice (ERBP), have developed the Clinical Practice Guideline on the diagnostic approach and treatment of hyponatraemia as a joint venture of three societies representing specialists with a natural interest in hyponatraemia. In addition to a rigorous approach to methodology and evaluation, we were keen to ensure that the document focused on patient-important outcomes and included utility for clinicians involved in everyday practice.

  1. Clinical practice guideline on diagnosis and treatment of hyponatraemia.

    PubMed

    Spasovski, Goce; Vanholder, Raymond; Allolio, Bruno; Annane, Djillali; Ball, Steve; Bichet, Daniel; Decaux, Guy; Fenske, Wiebke; Hoorn, Ewout J; Ichai, Carole; Joannidis, Michael; Soupart, Alain; Zietse, Robert; Haller, Maria; van der Veer, Sabine; Van Biesen, Wim; Nagler, Evi

    2014-04-01

    Hyponatraemia, defined as a serum sodium concentration <135 mmol/l, is the most common disorder of body fluid and electrolyte balance encountered in clinical practice. It can lead to a wide spectrum of clinical symptoms, from subtle to severe or even life threatening, and is associated with increased mortality, morbidity and length of hospital stay in patients presenting with a range of conditions. Despite this, the management of patients remains problematic. The prevalence of hyponatraemia in widely different conditions and the fact that hyponatraemia is managed by clinicians with a broad variety of backgrounds have fostered diverse institution- and speciality-based approaches to diagnosis and treatment. To obtain a common and holistic view, the European Society of Intensive Care Medicine (ESICM), the European Society of Endocrinology (ESE) and the European Renal Association - European Dialysis and Transplant Association (ERA-EDTA), represented by European Renal Best Practice (ERBP), have developed the Clinical Practice Guideline on the diagnostic approach and treatment of hyponatraemia as a joint venture of three societies representing specialists with a natural interest in hyponatraemia. In addition to a rigorous approach to methodology and evaluation, we were keen to ensure that the document focused on patient-important outcomes and included utility for clinicians involved in everyday practice.

  2. Prevalence, Clinical Presentation, and Differential Diagnosis of Pediatric Bipolar Disorder

    PubMed Central

    Goldstein, Benjamin I.; Birmaher, Boris

    2016-01-01

    Background Over the past 20 years, the evidence regarding pediatric bipolar disorder (BP) has increased substantially. As a result, recent concerns have focused primarily on prevalence and differential diagnosis. Method Selective review of the literature. Results BP as defined by rigorously applying diagnostic criteria has been observed among children and especially adolescents in numerous countries. In contrast to increasing diagnoses in clinical settings, prevalence in epidemiologic studies has not recently changed. BP-spectrum conditions among youth are highly impairing and confer high risk for conversion to BP-I and BP-II. Compared to adults, youth with BP have more mixed symptoms, more changes in mood polarity, are more often symptomatic and seem to have worse prognosis. The course, clinical characteristics, and comorbidities of BP among children and adolescents are in many ways otherwise similar to those of adults with BP. Nonetheless, many youth with BP receive no treatment and most do not receive BP-specific treatment. Conclusion Despite increased evidence supporting the validity of pediatric BP, discrepancies between clinical and epidemiologic findings suggest that diagnostic misapplication may be common. Simultaneously, low rates of treatment of youth with BP suggest that withholding of BP diagnoses may also be common. Clinicians should apply diagnostic criteria rigorously in order to optimize diagnostic accuracy and ensure appropriate treatment. PMID:22652925

  3. Neglected tropical diseases: diagnosis, clinical management, treatment and control.

    PubMed

    Utzinger, Jürg; Becker, Sören L; Knopp, Stefanie; Blum, Johannes; Neumayr, Andreas L; Keiser, Jennifer; Hatz, Christoph F

    2012-11-22

    Branded in 2005, "neglected tropical diseases" have gained traction in terms of advocacy, interest for research, enhanced funding and political will for their control and eventual elimination. Starting with an initial set of 13 neglected tropical diseases--seven helminth, three bacterial and three protozoal infections--the list considerably expanded to more than 40 diseases that now also includes viral, fungal and ectoparasitic infections. In this review, we provide a comprehensive overview of the neglected tropical diseases, their causative agents and the current geographical distribution, including their importance for the general practitioners seeing returning travellers and migrants in Switzerland. We characterise the most important of the neglected tropical diseases in terms of at-risk population, estimated number of infections, annual mortality rates and global burden, including current knowledge gaps. With an emphasis on neglected tropical diseases due to helminths, protozoa and ectoparasites, we review common diagnostic methods and current recommendations for treatment at the population level and the individual patient, thereby juxtaposing the situation in highly endemic countries on one side, with Switzerland on the other. We highlight the clinical presentation and management of the neglected tropical diseases in general and then elaborate on two examples, strongyloidiasis and leptospirosis. Our review provides a global perspective of neglected tropical diseases and we hope that it will prove useful for the general practitioner and clinician in Switzerland and elsewhere to enhance their suspicion index, differential diagnosis, clinical management and treatment, including referral to specialised clinics and laboratories when need be.

  4. Clinical Features and Patient Management of Lujo Hemorrhagic Fever

    PubMed Central

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

    2014-01-01

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

  5. Clinical features of Crohn disease concomitant with ankylosing spondylitis

    PubMed Central

    Liu, Song; Ding, Jie; Wang, Meng; Zhou, Wanqing; Feng, Min; Guan, Wenxian

    2016-01-01

    Abstract Extraintestinal manifestations (EIMs) cause increased morbidity and decreased quality of life in Crohn disease (CD). Ankylosing spondylitis (AS) belongs to EIMs. Very little is known on the clinical features of CD concomitant with AS. This study is to investigate the clinical features of CD patients with AS. We retrospectively collected all CD patients with AS in our hospital, and established a comparison group (CD without AS) with age, sex, and duration of Crohn disease matched. Clinical information was retrieved for comparison. Eight CD + AS patients were identified from 195 CD patients. Sixteen CD patients were randomly selected into comparison group. All CD + AS patients were male, HLA-B27 (+), and rheumatoid factor (−) with an average age of 40.8 ± 4.52 years. Significant correlation between disease activity of CD and AS was revealed (r = 0.857, P = 0.011). Significant correlation between disease activity of CD and functional limitation associated with AS was identified (r = 0.881, P < 0.01). C-reactive protein (CRP), erythrocyte sedimentation rate (ESR), and globulin were positively correlated to Crohn disease activity index (CDAI), Bath AS disease activity index, and Bath AS functional index(BASFI) scores (r = 0.73–0.93, P < 0.05). Albumin was negatively associated with CDAI and BASFI (r = −0.73 to −0.91, P < 0.05). The ratio of albumin to globulin (Alb/Glo) was significantly related to all 3 scores (r = −0.81 to −0.91, P < 0.05). Male predominance with a 4.12% concomitant incidence of AS is observed in CD patients. Disease activity of CD correlates with disease activity of AS and functional limitation caused by AS. CRP, ESR, and Alb/Glo may serve as biomarkers for disease activity and functional limitation in CD patients concomitant with AS, although future studies are expected. PMID:27428240

  6. Feature extraction using adaptive multiwavelets and synthetic detection index for rotor fault diagnosis of rotating machinery

    NASA Astrophysics Data System (ADS)

    Lu, Na; Xiao, Zhihuai; Malik, O. P.

    2015-02-01

    State identification to diagnose the condition of rotating machinery is often converted to a classification problem of values of non-dimensional symptom parameters (NSPs). To improve the sensitivity of the NSPs to the changes in machine condition, a novel feature extraction method based on adaptive multiwavelets and the synthetic detection index (SDI) is proposed in this paper. Based on the SDI maximization principle, optimal multiwavelets are searched by genetic algorithms (GAs) from an adaptive multiwavelets library and used for extracting fault features from vibration signals. By the optimal multiwavelets, more sensitive NSPs can be extracted. To examine the effectiveness of the optimal multiwavelets, conventional methods are used for comparison study. The obtained NSPs are fed into K-means classifier to diagnose rotor faults. The results show that the proposed method can effectively improve the sensitivity of the NSPs and achieve a higher discrimination rate for rotor fault diagnosis than the conventional methods.

  7. Gearbox fault diagnosis based on time-frequency domain synchronous averaging and feature extraction technique

    NASA Astrophysics Data System (ADS)

    Zhang, Shengli; Tang, Jiong

    2016-04-01

    Gearbox is one of the most vulnerable subsystems in wind turbines. Its healthy status significantly affects the efficiency and function of the entire system. Vibration based fault diagnosis methods are prevalently applied nowadays. However, vibration signals are always contaminated by noise that comes from data acquisition errors, structure geometric errors, operation errors, etc. As a result, it is difficult to identify potential gear failures directly from vibration signals, especially for the early stage faults. This paper utilizes synchronous averaging technique in time-frequency domain to remove the non-synchronous noise and enhance the fault related time-frequency features. The enhanced time-frequency information is further employed in gear fault classification and identification through feature extraction algorithms including Kernel Principal Component Analysis (KPCA), Multilinear Principal Component Analysis (MPCA), and Locally Linear Embedding (LLE). Results show that the LLE approach is the most effective to classify and identify different gear faults.

  8. DNA hybridization probe for clinical diagnosis of Entamoeba histolytica.

    PubMed Central

    Samuelson, J; Acuna-Soto, R; Reed, S; Biagi, F; Wirth, D

    1989-01-01

    As an alternative to microscopic identification of Entamoeba histolytica parasites isolated from stool, a sensitive and species-specific DNA hybridization probe was made for rapid diagnosis of E. histolytica parasites in clinical samples directly applied to nylon membranes. The DNA hybridization probe was made by screening a genomic library of a virulent HM-1:IMSS strain of E. histolytica to detect recombinant plasmids containing highly repeated parasite DNA sequences. Four plasmid clones that reacted across Entamoeba species coded for highly repeated rRNA genes of E. histolytica. Four other plasmid clones were E. histolytica specific in that they bound to four axenized and nine xenic strains of E. histolytica but did not recognize closely related E. histolytica-like Laredo, Entamoeba moshkovskii, or Entamoeba invadens parasites. The diagnostic clones detected as few as eight cultured amoebae and did not distinguish between pathogenic and nonpathogenic zymodemes of E. histolytica. The diagnostic clones were sequenced and contained 145-base-pair sequences which appear to be tandemly repeated in the genome. No stable transcript which is homologous to the diagnostic DNA was detected. In a study of stool samples from Mexico City shown by microscopy to contain E. histolytica, Entamoeba coli, Giardia lamblia, Endolimax nana, Trichuris trichiuria, and Chilomastix mesnili parasites, the DNA hybridization probe demonstrated a sensitivity of 1.0 and a specificity of 0.93. We conclude that the DNA hybridization probe can be used for rapid and accurate diagnosis of E. histolytica parasites. Images PMID:2542361

  9. Transplant renal artery stenosis: clinical manifestations, diagnosis and therapy.

    PubMed

    Chen, Wei; Kayler, Liise K; Zand, Martin S; Muttana, Renu; Chernyak, Victoria; DeBoccardo, Graciela O

    2015-02-01

    Transplant renal artery stenosis (TRAS) is a well-recognized vascular complication after kidney transplant. It occurs most frequently in the first 6 months after kidney transplant, and is one of the major causes of graft loss and premature death in transplant recipients. Renal hypoperfusion occurring in TRAS results in activation of the renin-angiotensin-aldosterone system; patients usually present with worsening or refractory hypertension, fluid retention and often allograft dysfunction. Flash pulmonary edema can develop in patients with critical bilateral renal artery stenosis or renal artery stenosis in a solitary kidney, and this unique clinical entity has been named Pickering Syndrome. Prompt diagnosis and treatment of TRAS can prevent allograft damage and systemic sequelae. Duplex sonography is the most commonly used screening tool, whereas angiography provides the definitive diagnosis. Percutaneous transluminal angioplasty with stent placement can be performed during angiography if a lesion is identified, and it is generally the first-line therapy for TRAS. However, there is no randomized controlled trial examining the efficacy and safety of percutaneous transluminal angioplasty compared with medical therapy alone or surgical intervention.

  10. Upper Cervical Epidural Abscess in Clinical Practice: Diagnosis and Management

    PubMed Central

    Al-Hourani, Khalid; Al-Aref, Rami; Mesfin, Addisu

    2015-01-01

    Study Design Narrative review. Objective Upper cervical epidural abscess (UCEA) is a rare surgical emergency. Despite increasing incidence, uncertainty remains as to how it should initially be managed. Risk factors for UCEA include immunocompromised hosts, diabetes mellitus, and intravenous drug use. Our objective is to provide a comprehensive overview of the literature including the history, clinical manifestations, diagnosis, and management of UCEA. Methods Using PubMed, studies published prior to 2015 were analyzed. We used the keywords “Upper cervical epidural abscess,” “C1 osteomyelitis,” “C2 osteomyelitis,” “C1 epidural abscess,” “C2 epidural abscess.” We excluded cases with tuberculosis. Results The review addresses epidemiology, etiology, imaging, microbiology, and diagnosis of this condition. We also address the nonoperative and operative management options and the relative indications for each as reviewed in the literature. Conclusion A high index of suspicion is required to diagnose this rare condition with magnetic resonance imaging being the imaging modality of choice. There has been a shift toward surgical management of this condition in recent times, with favorable outcomes. PMID:27190742

  11. Clinical application of multiple displacement amplification in preimplantation genetic diagnosis.

    PubMed

    Hellani, Ali; Coskun, Serdar; Tbakhi, Abdelghhani; Al-Hassan, Saad

    2005-03-01

    Multiple displacement amplification (MDA) is a technique used in the amplification of very small amounts of DNA. MDA is reported to yield large quantities of high-quality DNA. The applicability of MDA to single cells was recently demonstrated as a potential technique for preimplantation genetic diagnosis (PGD). This paper shows the first clinical application of MDA in PGD. Two cycles of PGD were performed in two diseases, resulting in two pregnancies. All the diagnoses given on blastomeres were confirmed on the non-transferred whole embryos. The blastomere diagnosis was coupled with short tandem repeat (STR) analysis (16 loci) in all cycles. Allelic drop-out (ADO) assessment and amplification efficiency were evaluated on 40 single lymphocytes derived from parents of each disease. ADO and amplification failure were 10.3 and 2.2% for beta-thalassaemia and 17.9 and 2.2% for cystic fibrosis respectively. HLA matching for A, B and DR was performed successfully on single cell for the beta-thalassaemia family using similar methods to genomic DNA. The PGD protocol used in all diseases consists of MDA amplification, followed by a standard polymerase chain reaction protocol. Although HLA matching was not applied to embryos, its feasibility was shown on single cell DNA amplified by MDA. Altogether, these data show the simplicity and reliability of performing PGD in combination with HLA matching and STR analysis using MDA.

  12. [Biochemical investigation for clinical diagnosis of drug dependence].

    PubMed

    Maeda, Hitoshi; Ishikawa, Takaki; Michiue, Tomomi

    2010-08-01

    Specific biochemical marker is not available for clinical diagnosis of drug dependence at present. However, drug abuse is accompanied by a decrease in serotonin and the derivative in cerebrospinal fluid, suggesting central serotonergic dysfunction, that is associated with cognitive deficits, alterations in sleep architecture and neuroendocrine function, and increased impulsivity as well as an increase in the risk for aggressive behavior toward the self involving suicide. For central stimulant abusers, elevated plasma catecholamine levels are associated with psychotic episodes and cardiovascular complications involving tachycardia and arrhythmias. Biochemical investigation is useful for predicting drug-induced mental disorders, complications and the prognosis, and also for differentiation from other mental disorders, e.g., secondary to metabolic and infectious diseases, or management of acute intoxication.

  13. X linked adrenoleukodystrophy: clinical presentation, diagnosis, and therapy

    PubMed Central

    van Geel, B. M; Assies, J.; Wanders, R.; Barth, P.

    1997-01-01

    X linked adrenoleukodystrophy (X-ALD) is an inherited disorder of peroxisomal metabolism, biochemically characterised by accumulation of saturated very long chain fatty acids. Accumulation of these fatty acids is associated with cerebral demyelination, peripheral nerve abnormalities, and adrenocortical and testicular insufficiency. The lowest estimated birth incidence is one per 100 000. At least six phenotypes can be distinguished, of which the two most frequent are childhood cerebral ALD and adrenomyeloneuropathy. The X-ALD gene has been identified, but thus far no relation between genotype and phenotype has been found. Diagnosis is relatively easy and can be confirmed reliably, and prenatal testing is possible in affected families. Several therapeutic options, some with promising perspectives, are available. Neurologists and other physicians seem not to be familiar with the many facets of X-ALD. In this review, the clinical presentation, the relative frequencies of the different phenotypes, and the diagnostic and therapeutic options are presented.

 PMID:9221959

  14. MUSCLE INJURY – PHYSIOPATHOLOGY, DIAGNOSIS, TREATMENT AND CLINICAL PRESENTATION

    PubMed Central

    Fernandes, Tiago Lazzaretti; Pedrinelli, André; Hernandez, Arnaldo José

    2015-01-01

    Skeletal muscle tissue has the largest mass in the human body, accounting for 45% of the total weight. Muscle injuries can be caused by bruising, stretching or laceration. The current classification divides such injuries into mild, moderate and severe. The signs and symptoms of grade I lesions are edema and discomfort; grade II, loss of function, gaps and possible ecchymosis; and grade III, complete rupture, severe pain and extensive hematoma. The diagnosis can be confirmed by: ultrasound, which is dynamic and cheap, but examiner dependent; and tomography or magnetic resonance, which gives better anatomical definition, but is static. Initial phase of the treatment can be summarized as the “PRICE” protocol. NSAIDs, ultrasound therapy, strengthening and stretching after the initial phase and range of motion without pain are used in clinical treatment. On the other hand, surgery has precise indications: hematoma drainage and muscle-tendon reinsertion and reinforcement. PMID:27047816

  15. Orbital Myositis: Evaluating Five New Cases Regarding Clinical and Radiological Features

    PubMed Central

    ÖNDER, Özlem; BİLGİN, Rıfat Reha; KÖŞKDERELİOĞLU, Aslı; GEDİZLİOĞLU, Muhteşem

    2016-01-01

    Orbital myositis (OM) is an inflammatory disorder of the extraocular muscles. The signs and symptoms of OM are periorbital pain, eyelid swelling and redness, restricted ocular motility, and strabismus. There are at least two major forms, described by Benedikt GH Schoser, a limited oligosymptomatic ocular myositis (LOOM), which is associated with conjunctival injection only, and severe exophthalmic ocular myositis (SEOM), which presents with additional ptosis, chemosis, and proptosis. We report the clinical and radiological features of five patients with OM who were recently followed in our clinic. Three patients, one man and two women, were placed in the LOOM group, and the other two patients, both women, were in the SEOM group. In both groups, the initial complaints were pain worsening with eye movements and double vision, with only one patient in the SEOM group having pain worsening secondary to Crohn’s disease. The most affected muscles were the medial and lateral recti. All the patients were treated with corticosteroids, resulting in rapid improvement. Only one patient in the SEOM group experienced a relapse. Orbital magnetic resonance imaging of all the patients revealed enlargement and contrast enhancement of the involved muscles. Although clinical and radiological features are quite consistent, delayed diagnosis in some patients demonstrates the importance of the awareness of OM. PMID:28360792

  16. Patellar Tendinopathy: Clinical Diagnosis, Load Management, and Advice for Challenging Case Presentations.

    PubMed

    Malliaras, Peter; Cook, Jill; Purdam, Craig; Rio, Ebonie

    2015-11-01

    Synopsis The hallmark features of patellar tendinopathy are (1) pain localized to the inferior pole of the patella and (2) load-related pain that increases with the demand on the knee extensors, notably in activities that store and release energy in the patellar tendon. While imaging may assist in differential diagnosis, the diagnosis of patellar tendinopathy remains clinical, as asymptomatic tendon pathology may exist in people who have pain from other anterior knee sources. A thorough examination is required to diagnose patellar tendinopathy and contributing factors. Management of patellar tendinopathy should focus on progressively developing load tolerance of the tendon, the musculoskeletal unit, and the kinetic chain, as well as addressing key biomechanical and other risk factors. Rehabilitation can be slow and sometimes frustrating. This review aims to assist clinicians with key concepts related to examination, diagnosis, and management of patellar tendinopathy. Difficult clinical presentations (eg, highly irritable tendon, systemic comorbidities) as well as common pitfalls, such as unrealistic rehabilitation time frames and overreliance on passive treatments, are also discussed. J Orthop Sports Phys Ther 2015;45(11):887-898. Epub 21 Sep 2015. doi:10.2519/jospt.2015.5987.

  17. Demographic, clinical, and laboratory features of Turkish patients with late onset ankylosing spondylitis.

    PubMed

    Karaarslan, Ahmet; Yilmaz, Hatice; Aycan, Hakan; Orman, Mehmet; Kobak, Senol

    2015-07-22

    Ankylosing spondylitis (AS) is a chronic inflammatory disease, which typically begins in early decades of life with primarily axial joints involvement. This disease rarely affects patients older than 50 years of age. The aim of this study was to compare and evaluate the demographic, clinical, and laboratory features of late onset and early onset AS patients who were followed up in a single rheumatology center. A total of 339 patients who have been diagnosed with AS according to modified New York criteria were included in the study. The patients whose initial symptoms were observed after 50 years of age were accepted as late onset AS. Out of 339 patients, 27 (7.9%) were diagnosed as late onset AS and 312 (92.3%) patients were evaluated as early onset AS. Of 27 late onset patients, 10 were male and 17 were female. Delay in the diagnosis was 5.8 years for early onset AS, while it was 3.8 years for late onset AS (p = 0.001). Higher levels of acute phase reactants and more methotrexate (MTX) use were detected in early onset AS patients compared to late onset AS (p = 0.001, p = 0.007, respectively). Statistically, there was no difference between these two groups, with regard to disease clinical activity indexes, anthropometric measurement parameters, uveitis and peripheral joint involvement. In this study, we showed that early and late onset AS patients may present with different clinical, genetic, and laboratory features. Late onset AS patients are characterized with lower human leukocyte antigen-B27 sequence, less inflammatory sign, delayed diagnosis, and less MTX and anti-tumor necrosis factor alpha drug usage.

  18. Hymenoptera venom allergy in outdoor workers: Occupational exposure, clinical features and effects of allergen immunotherapy

    PubMed Central

    Toletone, Alessandra; Voltolini, Susanna; Passalacqua, Giovanni; Dini, Guglielmo; Bignardi, Donatella; Minale, Paola; Massa, Emanuela; Troise, Costantino; Durando, Paolo

    2017-01-01

    ABSTRACT Objectives. To describe (i) the clinical characteristics of workers, exposed to hymenoptera stings, with an ascertained diagnosis of Hymenoptera Venom Allergy (HVA), (ii) the specific role of occupational exposure, (iii) the effect of Venom Immunotherapy (VIT) in reducing the severity of allergic episodes in workers exposed to repeated stings of hymenoptera, and (iv) the management of the occupational consequences caused by allergic reactions due to hymenoptera stings. Methods. Between 2000 and 2013 an observational study, including patients referred to the regional reference hospital of Liguria, Italy, with an ascertained diagnosis of HVA and treated with VIT, was performed. A structured questionnaire was administered to all patients to investigate the occupational features of allergic reactions. These were graded according to standard systems in patients at the first episode, and after re-stings, during VIT. Results. One-hundred and 8four out of the 202 patients referred had a complete data set. In 32 (17.4%) patients, the allergic reaction occurred during work activities performed outdoor. Of these, 31.2% previously stung by hymenoptera at work, and receiving VIT, were re-stung during occupational activity. The grades of reaction developed under VIT treatment resulted clinically less severe than of those occurred at the first sting (p-value = 0.031). Conclusion. Our findings confirmed the clinical relevance of HVA, and described its occupational features in outdoor workers with sensitization, stressing the importance of an early identification and proper management of the professional categories recognized at high risk of hymenoptera stings. The Occupational Physician should be supported by other specialists to recommend appropriate diagnostic procedures and the prescription of VIT, which resulted an effective treatment for the prevention of episodes of severe reactions in workers with a proven HVA. PMID:27924689

  19. Multi-Modal Neuroimaging Feature Learning for Multi-Class Diagnosis of Alzheimer’s Disease

    PubMed Central

    Liu, Siqi; Liu, Sidong; Cai, Weidong; Che, Hangyu; Pujol, Sonia; Kikinis, Ron; Feng, Dagan; Fulham, Michael J.

    2015-01-01

    The accurate diagnosis of Alzheimers disease (AD) is essential for patient care and will be increasingly important as disease modifying agents become available, early in the course of the disease. Although studies have applied machine learning methods for the computer aided diagnosis (CAD) of AD, a bottleneck in the diagnostic performance was shown in previous methods, due to the lacking of efficient strategies for representing neuroimaging biomarkers. In this study, we designed a novel diagnostic framework with deep learning architecture to aid the diagnosis of AD. This framework uses a zero-masking strategy for data fusion to extract complementary information from multiple data modalities. Compared to the previous state-of-the-art workflows, our method is capable of fusing multi-modal neuroimaging features in one setting and has the potential to require less labelled data. A performance gain was achieved in both binary classification and multi-class classification of AD. The advantages and limitations of the proposed framework are discussed. PMID:25423647

  20. ACG clinical guidelines: diagnosis and management of celiac disease.

    PubMed

    Rubio-Tapia, Alberto; Hill, Ivor D; Kelly, Ciarán P; Calderwood, Audrey H; Murray, Joseph A

    2013-05-01

    This guideline presents recommendations for the diagnosis and management of patients with celiac disease. Celiac disease is an immune-based reaction to dietary gluten (storage protein for wheat, barley, and rye) that primarily affects the small intestine in those with a genetic predisposition and resolves with exclusion of gluten from the diet. There has been a substantial increase in the prevalence of celiac disease over the last 50 years and an increase in the rate of diagnosis in the last 10 years. Celiac disease can present with many symptoms, including typical gastrointestinal symptoms (e.g., diarrhea, steatorrhea, weight loss, bloating, flatulence, abdominal pain) and also non-gastrointestinal abnormalities (e.g., abnormal liver function tests, iron deficiency anemia, bone disease, skin disorders, and many other protean manifestations). Indeed, many individuals with celiac disease may have no symptoms at all. Celiac disease is usually detected by serologic testing of celiac-specific antibodies. The diagnosis is confirmed by duodenal mucosal biopsies. Both serology and biopsy should be performed on a gluten-containing diet. The treatment for celiac disease is primarily a gluten-free diet (GFD), which requires significant patient education, motivation, and follow-up. Non-responsive celiac disease occurs frequently, particularly in those diagnosed in adulthood. Persistent or recurring symptoms should lead to a review of the patient's original diagnosis to exclude alternative diagnoses, a review of the GFD to ensure there is no obvious gluten contamination, and serologic testing to confirm adherence with the GFD. In addition, evaluation for disorders associated with celiac disease that could cause persistent symptoms, such as microscopic colitis, pancreatic exocrine dysfunction, and complications of celiac disease, such as enteropathy-associated lymphoma or refractory celiac disease, should be entertained. Newer therapeutic modalities are being studied in

  1. Clinical and historical features of emergency department patients with pericardial effusions

    PubMed Central

    Stolz, Lori; Valenzuela, Josephine; Situ-LaCasse, Elaine; Stolz, Uwe; Hawbaker, Nicolas; Thompson, Matthew; Adhikari, Srikar

    2017-01-01

    BACKGROUND: Diagnosing pericardial effusion is critical for optimal patient care. Typically, clinicians use physical examination findings and historical features suggesting pericardial effusion to determine which patients require echocardiography. The diagnostic characteristics of these tools are not well described. The objective of this study is to determine the prevalence of historical features and sensitivity of clinical signs to inform clinicians when to proceed with echocardiogram. METHODS: A retrospective review of point-of-care echocardiograms performed over a two and a half year period in two emergency departments were reviewed for the presence of a pericardial effusion. Patient charts were reviewed and abstracted for presenting symptoms, historical features and clinical findings. The prevalence of presenting symptoms and historical features and the sensitivity of classic physical examination findings associated with pericardial effusion and tamponade were determined. RESULTS: One hundred and fifty-three patients with pericardial effusion were identified. Of these patients, the most common presenting complaint was chest pain and shortness of breath. Patients had no historical features that would suggest pericardial effusion in 37.5% of cases. None of the patients with pericardial effusion or pericardial tamponade had all of the elements of Beck’s triad. The sensitivity of Beck’s triad was found to be 0 (0%–19.4%). The sensitivity for one finding of Beck’s triad to diagnose pericardial tamponade was 50% (28.0%–72.0%). CONCLUSION: History and physical examination findings perform poorly as tests for the diagnosis of pericardial effusion or pericardial tamponade. Clinicians must liberally evaluate patients suspected of having a pericardial effusion with echocardiography. PMID:28123617

  2. A feature extraction method based on information theory for fault diagnosis of reciprocating machinery.

    PubMed

    Wang, Huaqing; Chen, Peng

    2009-01-01

    This paper proposes a feature extraction method based on information theory for fault diagnosis of reciprocating machinery. A method to obtain symptom parameter waves is defined in the time domain using the vibration signals, and an information wave is presented based on information theory, using the symptom parameter waves. A new way to determine the difference spectrum of envelope information waves is also derived, by which the feature spectrum can be extracted clearly and machine faults can be effectively differentiated. This paper also compares the proposed method with the conventional Hilbert-transform-based envelope detection and with a wavelet analysis technique. Practical examples of diagnosis for a rolling element bearing used in a diesel engine are provided to verify the effectiveness of the proposed method. The verification results show that the bearing faults that typically occur in rolling element bearings, such as outer-race, inner-race, and roller defects, can be effectively identified by the proposed method, while these bearing faults are difficult to detect using either of the other techniques it was compared to.

  3. A Feature Extraction Method Based on Information Theory for Fault Diagnosis of Reciprocating Machinery

    PubMed Central

    Wang, Huaqing; Chen, Peng

    2009-01-01

    This paper proposes a feature extraction method based on information theory for fault diagnosis of reciprocating machinery. A method to obtain symptom parameter waves is defined in the time domain using the vibration signals, and an information wave is presented based on information theory, using the symptom parameter waves. A new way to determine the difference spectrum of envelope information waves is also derived, by which the feature spectrum can be extracted clearly and machine faults can be effectively differentiated. This paper also compares the proposed method with the conventional Hilbert-transform-based envelope detection and with a wavelet analysis technique. Practical examples of diagnosis for a rolling element bearing used in a diesel engine are provided to verify the effectiveness of the proposed method. The verification results show that the bearing faults that typically occur in rolling element bearings, such as outer-race, inner-race, and roller defects, can be effectively identified by the proposed method, while these bearing faults are difficult to detect using either of the other techniques it was compared to. PMID:22574021

  4. A Novel Depression Diagnosis Index Using Nonlinear Features in EEG Signals.

    PubMed

    Acharya, U Rajendra; Sudarshan, Vidya K; Adeli, Hojjat; Santhosh, Jayasree; Koh, Joel E W; Puthankatti, Subha D; Adeli, Amir

    2015-01-01

    Depression is a mental disorder characterized by persistent occurrences of lower mood states in the affected person. The electroencephalogram (EEG) signals are highly complex, nonlinear, and nonstationary in nature. The characteristics of the signal vary with the age and mental state of the subject. The signs of abnormality may be invisible to the naked eyes. Even when they are visible, deciphering the minute changes indicating abnormality is tedious and time consuming for the clinicians. This paper presents a novel method for automated EEG-based diagnosis of depression using nonlinear methods: fractal dimension, largest Lyapunov exponent, sample entropy, detrended fluctuation analysis, Hurst's exponent, higher order spectra, and recurrence quantification analysis. A novel Depression Diagnosis Index (DDI) is presented through judicious combination of the nonlinear features. The DDI calculated automatically based on the EEG recordings can be used to diagnose depression objectively using just one numeric value. Also, these features extracted from nonlinear methods are ranked using the t value and fed to the support vector machine (SVM) classifier. The SVM classifier yielded the highest classification performance with an average accuracy of about 98%, sensitivity of about 97%, and specificity of about 98.5%.

  5. Continuous wavelet transform-based feature selection applied to near-infrared spectral diagnosis of cancer.

    PubMed

    Chen, Hui; Lin, Zan; Mo, Lin; Wu, Hegang; Wu, Tong; Tan, Chao

    2015-01-01

    Spectrum is inherently local in nature since it can be thought of as a signal being composed of various frequency components. Wavelet transform (WT) is a powerful tool that partitions a signal into components with different frequency. The property of multi-resolution enables WT a very effective and natural tool for analyzing spectrum-like signal. In this study, a continuous wavelet transform (CWT)-based variable selection procedure was proposed to search for a set of informative wavelet coefficients for constructing a near-infrared (NIR) spectral diagnosis model of cancer. The CWT provided a fine multi-resolution feature space for selecting best predictors. A measure of discriminating power (DP) was defined to evaluate the coefficients. Partial least squares-discriminant analysis (PLS-DA) was used as the classification algorithm. A NIR spectral dataset associated to cancer diagnosis was used for experiment. The optimal results obtained correspond to the wavelet of db2. It revealed that on condition of having better performance on the training set, the optimal PLS-DA model using only 40 wavelet coefficients in 10 scales achieved the same performance as the one using all the variables in the original space on the test set: an overall accuracy of 93.8%, sensitivity of 92.5% and specificity of 96.3%. It confirms that the CWT-based feature selection coupled with PLS-DA is feasible and effective for constructing models of diagnostic cancer by NIR spectroscopy.

  6. Clinical and epidemiological features of coryneform skin infections at a tertiary hospital

    PubMed Central

    Pinto, Malcolm; Hundi, Ganesh Kamath; Bhat, Ramesh Marne; Bala, Nanda Kishore; Dandekeri, Sukumar; Martis, Jacintha; Kambil, Srinath M.

    2016-01-01

    Background: Skin infections caused by coryneform bacteria are common dermatological conditions. However, to the best of our knowledge, no studies are available on the clinical characteristics and epidemiological features of this group of disorders as one entity from India and abroad. Aims: To study the clinical and epidemiological features of coryneform skin infections Methods: A total of 75 patients presenting with clinically distinctive lesions of pitted keratolysis, erythrasma and trichobacteriosis to our hospital were included in the study. Cases were interviewed with particular emphasis on epidemiological features and the various clinical findings were recorded. Investigations like Gram's stain, Wood's light examination, 10% KOH scrapings, were done in selected cases to ascertain the diagnosis. Results: Pitted keratolysis was more common in the age group of 31-40 years (40%) with a male preponderance (76.7%), most commonly affecting pressure bearing areas of the soles with malodour (86.7%) and frequent contact with water (58.3%) constituting the most important presenting symptom and provocating factor respectively. Erythrasma affected both male and female patients equally and was more commonly detected in patients with a BMI > 23kg/m2 (62.5%) and in diabetics (50%). All patients with trichobacteriosis presented with yellow coloured concretions in the axillae. Bromhidrosis (71.4%) and failure to regularly use an axillary deodorant (71.4%) were the most common presenting symptom and predisposing factor respectively. Conclusion: Coryneform skin infections are common dermatological conditions, though epidemiological data are fragmentary. Hyperhidrosis is a common predisposing factor to all three coryneform skin infections. Asymmetrical distribution of pits has been reported in our study. Diabetic status needs to be evaluated in all patients with erythrasma. Woods lamp examination forms an indispensible tool to diagnose erythrasma and trichobacteriosis. PMID

  7. Hierarchical Feature Representation and Multimodal Fusion with Deep Learning for AD/MCI Diagnosis

    PubMed Central

    Suk, Heung-Il; Lee, Seong-Whan; Shen, Dinggang

    2014-01-01

    For the last decade, it has been shown that neuroimaging can be a potential tool for the diagnosis of Alzheimer’s Disease (AD) and its prodromal stage, Mild Cognitive Impairment (MCI), and also fusion of different modalities can further provide the complementary information to enhance diagnostic accuracy. Here, we focus on the problems of both feature representation and fusion of multimodal information from Magnetic Resonance Imaging (MRI) and Positron Emission Tomography (PET). To our best knowledge, the previous methods in the literature mostly used hand-crafted features such as cortical thickness, gray matter densities from MRI, or voxel intensities from PET, and then combined these multimodal features by simply concatenating into a long vector or transforming into a higher-dimensional kernel space. In this paper, we propose a novel method for a high-level latent and shared feature representation from neuroimaging modalities via deep learning. Specifically, we use Deep Boltzmann Machine (DBM)1, a deep network with a restricted Boltzmann machine as a building block, to find a latent hierarchical feature representation from a 3D patch, and then devise a systematic method for a joint feature representation from the paired patches of MRI and PET with a multimodal DBM. To validate the effectiveness of the proposed method, we performed experiments on ADNI dataset and compared with the state-of-the-art methods. In three binary classification problems of AD vs. healthy Normal Control (NC), MCI vs. NC, and MCI converter vs. MCI non-converter, we obtained the maximal accuracies of 95.35%, 85.67%, and 74.58%, respectively, outperforming the competing methods. By visual inspection of the trained model, we observed that the proposed method could hierarchically discover the complex latent patterns inherent in both MRI and PET. PMID:25042445

  8. Effectiveness of Empirical Mode Decomposition Based Features Compared to Kurtosis Based Features for Diagnosis of Pinion Crack Detection in a Helicopter

    DTIC Science & Technology

    2010-10-01

    algorithms for fault diagnosis and failure prognosis, antenna design, superresolution algorithms 80 82 84 86 88 90 92 94 96 98 0 20 40 60 80 Accelerometer...to Kurtosis Based Features for Diagnosis of Pinion Crack Detection in a Helicopter Canh Ly* 1 , Kenneth Ranney 1 , Kwok Tom 1 , Hiralal Khatri 1...rotor gearbox . A tooth on the input pinion of the gearbox was notched and run for an extended period at several over-torque conditions to induce a

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

    PubMed

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

    2012-03-01

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

  10. CT features of pulmonary artery sarcoma: critical aid to a challenging diagnosis.

    PubMed

    Singla Long, Svati; Johnson, Pamela T; Hruban, Ralph H; Fishman, Elliot K

    2010-03-01

    Pulmonary artery sarcoma is an uncommon and highly malignant neoplasm that presents a diagnostic challenge to radiologists due to its tendency to mimic the more common condition of pulmonary thromboembolism. Presented in this case report is a patient with pulmonary artery sarcoma who was initially diagnosed with saddle pulmonary embolism based upon computed tomography (CT) findings. The case emphasizes the importance of including pulmonary artery sarcoma in the differential diagnosis of a large filling defect in the pulmonary arteries when specific CT findings are identified in the appropriate clinical setting.

  11. Retroperitoneal fibrosis: retrospective descriptive study on clinical features and management

    PubMed Central

    Laroche, Ann-Sophie; Bell, Robert Z; Bezzaoucha, Sarah; Földes, Eva; Lamarche, Caroline; Vallée, Michel

    2016-01-01

    Introduction Retroperitoneal fibrosis (RPF) is a rare condition characterized by the presence of inflammatory and fibrous retroperitoneal tissue that often encases the ureters or abdominal organs. This study describes the clinical characteristics, diagnostic methods, and treatments and their effects on renal function. Methods We conducted a retrospective analysis of patients diagnosed with RPF at Maisonneuve-Rosemont Hospital. Results We identified 17 patients with RPF between 1998 and 2013. Eight patients were females (47%), and the mean age was 62±18 years. Eleven patients were idiopathic. Back pain was the most common symptom. All diagnoses were made based on the finding of a retroperitoneal mass on the computed tomography scan. Three patients had histological diagnosis of RPF and seven patients had unspecific changes on their biopsy. Twelve patients needed double-J stents, three patients had a temporary percutaneous nephrostomy, two patients had to have a nephrectomy for refractory ureteral obstruction, and one patient required hemodialysis. Ten patients with idiopathic RPF received medical treatment. In the treated group, only two patients had complete remission of the disease and five patients had improvement of their lesions. There were no deteriorations and only one relapse. Seven patients did not receive any treatment; two of them achieved complete remission, one of them deteriorated, and two of them had no changes. Conclusion Most of our cases of RPF were idiopathic. Almost all treated patients received prednisone and seemed to respond, at least partially. There was a lot of heterogeneity in patient management, which makes it difficult to compare treatment effects. However, treated patients seemed to have more favorable outcomes than those who were not. PMID:27822461

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

    PubMed Central

    Anwar, Khurshid; Gohar, Muhammad Shahid

    2014-01-01

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

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

    PubMed

    Warrell, Mary J; Warrell, David A

    2015-02-01

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

  14. Clinical Features and Outcomes of Pasteurella multocida Infection

    PubMed Central

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

    2015-01-01

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

  15. Cerebral proliferative angiopathy: Clinical, angiographic features and literature review

    PubMed Central

    Liu, Peng; Lv, Xianli; Lv, Ming

    2016-01-01

    Purpose Here we present our experience with five cerebral proliferative angiopathy (CPA) patients to better delineate the clinical and angiographic features as well as the treatment selection of this disease. Methods Between October 2008 and October 2012, five consecutive patients diagnosed with CPA were admitted to our department in our hospital. All the five patients received magnetic resonance imaging, digital subtraction angiography, and positron emission computed tomography (PET) to definitively confirm this disease. We also collected 15 previously published instances of CPA to analyze the characteristics of this rare entity. Results As to the five patients, three were female and two were male, between the ages of 4 and 52 years with a mean age of 24.8 ± 20.6 years. The PET results showed that perfusion was decreased over the affected hemispheres in all five patients. As to the treatment, only one patient received encephalo-duro-arterio-synangiosis (EDAS) revascularization surgery. The other four patients were conservatively observed. During the follow-up period (range 3–6 years, mean 4 ± 1.9 years), the patient who underwent EDAS surgery manifested relief of clinical symptoms. In the conservative series, the symptoms in two patients aggravated and suffered permanent neurologic deficits. Conclusion CPA is a rare entity. Natural history has showed this disease is not stable and may progress at a certain time point. The EDAS procedure may be a treatment for CPA-related oligemia since there is currently little data and follow-up available. PMID:26472638

  16. Clinical Features of Cluster Headache Patients in Korea

    PubMed Central

    2017-01-01

    Cluster headache (CH) is a rare underdiagnosed primary headache disorder with very severe unilateral pain and autonomic symptoms. Clinical characteristics of Korean patients with CH have not yet been reported. We analyzed the clinical features of CH patients from 11 university hospitals in Korea. Among a total of 200 patients with CH, only 1 patient had chronic CH. The average age of CH patients was 38.1 ± 8.9 years (range 19–60 years) and the average age of onset was 30.7 ± 10.3 years (range 10–57 years). The male-to-female ratio was 7:1 (2.9:1 among teen-onset and 11.7:1 among twenties-onset). Pain was very severe at 9.3 ± 1.0 on the visual analogue scale. The average duration of each attack was 100.6 ± 55.6 minutes and a bout of CH lasted 6.5 ± 4.5 weeks. Autonomic symptoms were present in 93.5% and restlessness or agitation was present in 43.5% of patients. Patients suffered 3.0 ± 3.5 (range 1–25) bouts over 7.3 ± 6.7 (range 1–30) years. Diurnal periodicity and season propensity were present in 68.5% and 44.0% of patients, respectively. There were no sex differences in associated symptoms or diurnal and seasonal periodicity. Korean CH patients had a high male-to-female ratio, relatively short bout duration, and low proportion of chronic CH, unlike CH patients in Western countries. PMID:28145655

  17. Clinical diagnosis found in patients with Raynaud's phenomenon: a multicentre study.

    PubMed

    Grassi, W; De Angelis, R; Lapadula, G; Leardini, G; Scarpa, R

    1998-01-01

    A multicentre observational study was conducted in order to detect the major clinical diagnosis found in 761 patients with Raynaud's phenomenon (RP) attending 50 Italian centres for rheumatology and internal medicine. Systemic sclerosis was the most frequent condition associated with secondary RP, occurring in 216 (28.4%) patients. The other most frequent clinical diagnoses included systemic lupus erythematosus (52 cases: 6.8%) and rheumatoid arthritis (38 cases: 5%). Other RP-related diseases (hypertension, Sjögren's syndrome, mixed connective tissue disease, undifferentiated connective tissue disease, fibromyalgia, carpal tunnel syndrome, cryoglobulinemia, dermatopolymyositis, vasculitis, thoracic outlet syndrome, hypothyroidism, diabetes mellitus) occurred in less than 5% of cases. A total of 130 (48%) out of 268 patients with primary RP showed one or more clinical features indicating a fairly high risk of evolving into fully established systemic sclerosis. None of these patients fulfilled the ACR criteria for systemic sclerosis. This study shows that over 50% of patients with RP attending 50 Italian centres for rheumatology and internal medicine had a connective tissue disease. The large number of patients with primary RP and isolated clinical features of connective tissue disease indicates that more efforts should be focused on developing new criteria for the classification of RP.

  18. Deterministic versus evidence-based attitude towards clinical diagnosis.

    PubMed

    Soltani, Akbar; Moayyeri, Alireza

    2007-08-01

    Generally, two basic classes have been proposed for scientific explanation of events. Deductive reasoning emphasizes on reaching conclusions about a hypothesis based on verification of universal laws pertinent to that hypothesis, while inductive or probabilistic reasoning explains an event by calculation of some probabilities for that event to be related to a given hypothesis. Although both types of reasoning are used in clinical practice, evidence-based medicine stresses on the advantages of the second approach for most instances in medical decision making. While 'probabilistic or evidence-based' reasoning seems to involve more mathematical formulas at the first look, this attitude is more dynamic and less imprisoned by the rigidity of mathematics comparing with 'deterministic or mathematical attitude'. In the field of medical diagnosis, appreciation of uncertainty in clinical encounters and utilization of likelihood ratio as measure of accuracy seem to be the most important characteristics of evidence-based doctors. Other characteristics include use of series of tests for refining probability, changing diagnostic thresholds considering external evidences and nature of the disease, and attention to confidence intervals to estimate uncertainty of research-derived parameters.

  19. [Clinical practice guideline. Diagnosis and treatment of postmenopausal and perinemopausia].

    PubMed

    Alvarado-García, Alberto; Hernández-Quijano, Tomás; Hernández-Valencia, Marcelino; Negrín-Pérez, Miriam Concepción; Ríos-Castillo, Brendha; Valencia-Pérez, Gregorio Urbano; Vital-Reyes, Víctor Saúl; Basavilvazo-Rodríguez, María Antonia; Torres-Arreola, Laura Pilar; Ortiz-Luna, Guillermo Federico; Sánchez-Aguirre, Fernando; Montaño-Uscanga, Armando

    2015-01-01

    Post-menopause is the period of life where a deep decline occurs in circulating estrogen levels, inducing the appearance of psycho and somatic symptoms. The classification to understand the chronology of reproductive aging in women (known as STRAW) determines the clinical and endocrine changes contemplating menstrual cycles, symptoms, measurements of FSH, LH, inhibin B, anti-Mullerian hormone , and follicular account. The diagnosis of menopause is established by the absence of menstruation for 12 months or more. The most frequent clinical manifestations of the climacteric syndrome transition to menopause are menstrual disorders, vasomotor symptoms (flushes and/or sweats) and genitourinary manifestations. The assessment of women in the peri- or postmenopause aims to develop: cervicovaginal cytology , lipid profile , serum glucose, basal Mammography at least a year before, pelvic ultrasound, urinalysis, serum TSH, Densitometry in patients older than 60 years if there is no recourse can be applied and FRAX. Drug therapy for the treatment of disorders of the transition to menopause or menopause is divided into: hormone therapy (HT) based estrogens and progestin hormone not being the most recommended the serotonin reuptake inhibitors and norepinephrine, clonidine, gabapentin or veralipride.

  20. Clinical and laboratory factors in the differential diagnosis of tuberculous and cryptococcal meningitis in adult HIV-negative patients.

    PubMed

    Zhang, Bingjun; Lv, Kefeng; Bao, Jian; Lu, Ciyong; Lu, Zhengqi

    2013-01-01

    Objective It is difficult to make the differential diagnosis between tuberculous meningitis (TBM) and cryptococcal meningitis (CM) when the smear is negative. The objective of this study was to create a diagnostic rule for differentiating TBM from CM in adult HIV-negative patients based on clinical and laboratory features. Methods The clinical and laboratory data of 219 adult HIV-negative patients satisfying the diagnostic criteria for tuberculous (n=100) and cryptococcal (n=119) meningitis hospitalized at the Third Affiliated Hospital of Sun Yat-Sen University during the period 2000-2009 were retrospectively analyzed. Features found to be independently predictive of tuberculous meningitis were modeled using a multivariate logistic regression to create a diagnostic rule. The performance of the diagnostic rule was assessed using a prospective test data method. Results Six factors were found to be predictive of a diagnosis of tuberculous meningitis: gender, mental disorders, vision and/or hearing damage, proteins in the cerebrospinal fluid, the total cerebrospinal fluid white cell count and the coexistence of tuberculosis in peripheral organs. The diagnostic rule developed using these features exhibited 78.0% sensitivity, 95.2% specificity, 92.9% positive predictive value and 84.4% negative predictive value. The corresponding values for the diagnostic rule were 70.0% and 88.0% using prospective test data. Conclusion Clinical and laboratory features can be helpful in the differential diagnosis of tuberculous meningitis and cryptococcal meningitis in adult HIV-negative patients.

  1. Clinical findings and diagnosis in genetic prion diseases in Germany.

    PubMed

    Krasnianski, Anna; Heinemann, Uta; Ponto, Claudia; Kortt, Jasmine; Kallenberg, Kai; Varges, Daniela; Schulz-Schaeffer, Walter J; Kretzschmar, Hans A; Zerr, Inga

    2016-02-01

    To describe the clinical syndrome and diagnostic tests in patients with genetic prion diseases (gPD) in Germany. Clinical features, MRI, EEG, and CSF markers were studied in 91 patients (28 D178N, 20 E200K, 17 inserts, 13 V210I, 8 P102L, 5 E196K). Dementia (35 %) and ataxia (29 %) were the most common initial symptoms and signs. A wide variety and high frequency of neurological/psychiatric symptoms and signs was found during disease course in all patients independently of the type of the mutation. Psychiatric manifestations were frequent (87 %). Neuropsychological abnormalities were observed in 67 %, and aphasia was the most common disturbance (45 %). In E200K, V210I and D178N patients, visual/oculomotor deficits were followed by ataxia early in the disease. Dementia followed by ataxia at onset was common in patients with insert and E196K mutation. P102L patients had isolated ataxia over a longer time period followed by pyramidal signs. Dementia was present only late in the disease course. All clinical routine tests such as MRI, EEG and CSF tests were less sensitive than in sporadic CJD. We provide the first detailed analysis of clinical signs and symptoms in a large group of patients with gPD. Frequency of clinical symptoms and signs was similar in different mutations in a later disease course, but the sequence of occurrence may be of great diagnostic importance. CSF markers were shown to be more sensitive than MRI and EEG.

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

    PubMed Central

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

    1993-01-01

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

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

    PubMed

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

    2015-12-15

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

  4. Risk factors and clinical features of text message injuries.

    PubMed

    Sharan, Deepak; Ajeesh, P S

    2012-01-01

    Use of mobile phone and sending text message is a very common in today's life. While sending a text message the users need to use their thumb and other palm muscles extensively. The thumb most of the time adducted on the key pad of the mobile and use high force to type the letters. Studies in literature showed that text messaging has an adverse effect on musculoskeletal system of hand. But the extensive study on the type of disorders set in among the users who extensively use mobile phone for texting. This study aims at to evaluate risk factor and clinical feature of the MSD due to hand held devices. Twenty seven subjects participated in this study. Predefined protocols were used to evaluate type of MSD occurred among the subjects. The study revealed that development of tendinitis in extensor pollicis longus, myofascial pain syndrome (70.37%) of adductor pollicis, 1st interossei and extensor digitorum communis . Other associated problems diagnosed were thoracic outlet syndrome (51.85%), fibromyalgia syndrome (25.93%), hypothyroidism (7.41%), wrist tendinitis (14.81%) and De Quervain's syndrome (7.41%). It has been observed that the pathology were tendinitis of extensor pollicis longus, myofascial pain syndrome of thenar muscles and 1st interossei, extensor digitorum communis.

  5. Clinical features and outcome of severe malaria in Gambian children.

    PubMed

    Waller, D; Krishna, S; Crawley, J; Miller, K; Nosten, F; Chapman, D; ter Kuile, F O; Craddock, C; Berry, C; Holloway, P A

    1995-09-01

    The clinical and laboratory features of severe falciparum malaria in 180 Gambian children were studied between 1985 and 1989. Of the 180 children, 118 (66%) presented with seizures, 77 (43%) had cerebral malaria, 35 (20%) had witnessed seizures after admission, 29 (16%) were hypoglycemic, and 27 (15%) died. Respiratory distress was a common harbinger of a fatal outcome. The differences in admission parasite counts in the blood, hematocrit, and opening cerebrospinal pressures for patients who died and survivors were not significant. A multiple logistic regression model identified neurological status (coma, particularly if associated with extensor posturing), stage of parasite development on the peripheral blood film, pulse rate of > 150 or respiratory rate of > 50, hypoglycemia, and hyperlactatemia (plasma lactate level, > 5 mmol/L) as independent indicators of a fatal outcome. Biochemical evidence of hepatic and renal dysfunction was an additional marker of a poor prognosis, but, in contrast to severe malaria in adults, none of these children with severe malaria had acute renal failure.

  6. Congenital Aural Stenosis: Clinical Features and Long-term Outcomes

    PubMed Central

    Li, Chen-long; Chen, Ying; Chen, Yong-zheng; Fu, Yao-yao; Zhang, Tian-yu

    2016-01-01

    The aim of the present study was to comprehensively evaluate the clinical features and long-term outcomes of congenital aural stenosis (CAS). This study presents a retrospective review of patients who underwent meatoplasty for CAS at a tertiary referral hospital from 2008 to 2015. A total of 246 meatoplasty procedures were performed on 232 patients in the present study. We performed multivariate regression analysis. Except in the age < 6 years group, no significant difference was observed among different age groups for cholesteatoma formation, p > 0.05. Except for the stenosis of the external auditory canal (EAC) (>4 mm) group, the other stenosis of EAC groups were not associated with cholesteatoma formation, p > 0.05. Postoperative air-bone gaps (ABG) less than 30 dB occurred in 77.3% (99/128) of the patients, and the Jahrsdoerfer score was associated with postoperative ABG, p < 0.001. The complication rate of CAS was 13.8% (20/144), and males showed a higher risk for postoperative complications (OR, 6.563; 95% CI, 1.268–33.966, p = 0.025). These results indicate that meatoplasty was an effective surgical intervention for CAS, showing a stable hearing outcome with prolonged follow-up. There was no significant difference between the cholesteatoma and no cholesteatoma groups for hearing outcomes, p > 0.05. PMID:27257165

  7. Clinical and histological features of nonalcoholic steatohepatitis in Iranian patients

    PubMed Central

    Bahrami, Hossein; Daryani, Nasser Ebrahimi; Mirmomen, Shahram; Kamangar, Farin; Haghpanah, Babak; Djalili, Mehdi

    2003-01-01

    Background Although several studies have been performed on risk factors and natural course of NASH, it seems that NASH tends to be more than a disease confined to strict boundaries. The objective of this study was to assess the clinical and paraclinical features and risk factors for non-alcoholic steatohepatitis (NASH) patients in an Iranian population Methods Patients with histologically confirmed NASH who had elevated liver aminotransaminases, negative serologic markers of viral or autoimmune hepatitis and no findings in favor of metabolic liver disease were enrolled. A careful history was taken regarding alcohol intake. Results 53 patients consisting of 32 male and 21 female entered the study. The mean age was 37.8 ± 11.3 years. Twenty-six patients (55.3%) were overweight, 15 (31.9%) obese, 40 (75.5%) dyslipidemic, and three patients (5.7%) were diabetic. Liver biopsy showed mild steatosis in 35.7%, moderate steatosis in 53.6%, and severe forms in 10.7%. In 80.2% of patients, portal inflammation was present, and 9.4% had cirrhosis. The amount of increase in liver enzymes bore no relationship with fibrosis, portal inflammation, and degree of steatosis. Conclusions The patients in our study showed a male predominancy and were somewhat younger than other studies. PMID:14561231

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

    PubMed Central

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

    2012-01-01

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

  9. Molecular diagnosis in clinical parasitology: when and why?

    PubMed

    Wong, Samson S Y; Fung, Kitty S C; Chau, Sandy; Poon, Rosana W S; Wong, Sally C Y; Yuen, Kwok-Yung

    2014-11-01

    Microscopic detection and morphological identification of parasites from clinical specimens are the gold standards for the laboratory diagnosis of parasitic infections. The limitations of such diagnostic assays include insufficient sensitivity and operator dependence. Immunoassays for parasitic antigens are not available for most parasitic infections and have not significantly improved the sensitivity of laboratory detection. Advances in molecular detection by nucleic acid amplification may improve the detection in asymptomatic infections with low parasitic burden. Rapidly accumulating genomic data on parasites allow the design of polymerase chain reaction (PCR) primers directed towards multi-copy gene targets, such as the ribosomal and mitochondrial genes, which further improve the sensitivity. Parasitic cell or its free circulating parasitic DNA can be shed from parasites into blood and excreta which may allow its detection without the whole parasite being present within the portion of clinical sample used for DNA extraction. Multiplex nucleic acid amplification technology allows the simultaneous detection of many parasitic species within a single clinical specimen. In addition to improved sensitivity, nucleic acid amplification with sequencing can help to differentiate different parasitic species at different stages with similar morphology, detect and speciate parasites from fixed histopathological sections and identify anti-parasitic drug resistance. The use of consensus primer and PCR sequencing may even help to identify novel parasitic species. The key limitation of molecular detection is the technological expertise and expense which are usually lacking in the field setting at highly endemic areas. However, such tests can be useful for screening important parasitic infections in asymptomatic patients, donors or recipients coming from endemic areas in the settings of transfusion service or tertiary institutions with transplantation service. Such tests can also

  10. Lung parenchymal invasion in pulmonary carcinoid tumor: an important histologic feature suggesting the diagnosis of atypical carcinoid and poor prognosis.

    PubMed

    Ha, Sang Yun; Lee, Jae Jun; Cho, Junhun; Hyeon, Jiyeon; Han, Joungho; Kim, Hong Kwan

    2013-05-01

    The majority of previous studies on pulmonary carcinoid tumor have usually focused on clinical behavior or outcome, seldom considering histopathologic features. We retrospectively collected 63 cases of resected pulmonary carcinoid tumors from 1995 to 2011 at Samsung Medical Center, Seoul, Korea. The clinical and pathological features were correlated and survival analyses were performed. Forty cases (63.5%) were classified as typical carcinoid (TC) and 23 cases (36.5%) were classified as atypical carcinoid (AC) according to WHO classification criteria. AC patients showed a higher frequency of current smoking status and a higher stage of the tumor by the American Joint Committee on Cancer than TC patients. The disease was associated with death and recurrence in five and seven patients, respectively, with almost all of the associations found in AC patients. The five-year survival rate of TC and AC were 100% and 83.5%, respectively, with AC showing poorer prognosis than TC in overall survival (OS) and disease free survival (DFS) (p=0.005 and p=0.002). Lung parenchymal invasion was observed more commonly in AC than in TC (39.1% vs 12.5%, p=0.01) and was a poor prognostic factor in OS and DFS. Rosette-like arrangements were found only in six cases of AC, while abundant basophilic cytoplasm mimicking paraganglioma and ossification were found only in TC. Through the comprehensive study of pulmonary carcinoid tumor in Korea, we suggest that lung parenchymal invasion could be a useful histologic feature to suspect the diagnosis of AC in daily practice as well as to predict the prognosis of carcinoid tumor.

  11. Automatic recognition of severity level for diagnosis of diabetic retinopathy using deep visual features.

    PubMed

    Abbas, Qaisar; Fondon, Irene; Sarmiento, Auxiliadora; Jiménez, Soledad; Alemany, Pedro

    2017-03-28

    Diabetic retinopathy (DR) is leading cause of blindness among diabetic patients. Recognition of severity level is required by ophthalmologists to early detect and diagnose the DR. However, it is a challenging task for both medical experts and computer-aided diagnosis systems due to requiring extensive domain expert knowledge. In this article, a novel automatic recognition system for the five severity level of diabetic retinopathy (SLDR) is developed without performing any pre- and post-processing steps on retinal fundus images through learning of deep visual features (DVFs). These DVF features are extracted from each image by using color dense in scale-invariant and gradient location-orientation histogram techniques. To learn these DVF features, a semi-supervised multilayer deep-learning algorithm is utilized along with a new compressed layer and fine-tuning steps. This SLDR system was evaluated and compared with state-of-the-art techniques using the measures of sensitivity (SE), specificity (SP) and area under the receiving operating curves (AUC). On 750 fundus images (150 per category), the SE of 92.18%, SP of 94.50% and AUC of 0.924 values were obtained on average. These results demonstrate that the SLDR system is appropriate for early detection of DR and provide an effective treatment for prediction type of diabetes.

  12. Spinocerebellar ataxia type 2 (SCA2): clinical features and genetic analysis.

    PubMed

    Mutesa, Léon; Pierquin, Geneviève; Segers, Karin; Vanbellinghen, Jean François; Gahimbare, Laetitia; Bours, Vincent

    2008-10-01

    Spinocerebellar ataxia type 2 (SCA2) is an autosomal dominant neurodegenerative disease that results from the expansion of an unstable trinucleotide CAG repeat encoding for a polyglutamine tract. In normal individuals, alleles contain between 14 and 31 CAG repeats, whereas the pathological alleles have more than 35 CAG repeats. The clinical phenotype of SCA2 includes a progressive cerebellar ataxia with additional features such as ophthalmoplegia, extra-pyramidal or pyramidal signs and peripheral neuropathy. We report a SCA2 large African family with several affected individuals. A major pathological allele carrying 43 CAG repeats was identified in the proband. To our knowledge, this is a first report of a SCA disorder described in Central African patients, thus indicating the need to consider this diagnosis in young African ataxic patients.

  13. Clinical Features of Adult/Adolescent Atopic Dermatitis and Chinese Criteria for Atopic Dermatitis

    PubMed Central

    Liu, Ping; Zhao, Yan; Mu, Zhang-Lei; Lu, Qian-Jin; Zhang, Li; Yao, Xu; Zheng, Min; Tang, Yi-Wen; Lu, Xin-Xiang; Xia, Xiu-Juan; Lin, You-Kun; Li, Yu-Zhen; Tu, Cai-Xia; Yao, Zhi-Rong; Xu, Jin-Hua; Li, Wei; Lai, Wei; Yang, Hui-Min; Xie, Hong-Fu; Han, Xiu-Ping; Xie, Zhi-Qiang; Nong, Xiang; Guo, Zai-Pei; Deng, Dan-Qi; Shi, Tong-Xin; Zhang, Jian-Zhong

    2016-01-01

    Background: Atopic dermatitis (AD) is an inflammatory skin disease characterized by chronic recurrent dermatitis with profound itching. Most patients have personal and/or family history of atopic diseases. Several criteria have been proposed for the diagnosis of AD. Although the clinical features of childhood AD have been widely studied, there has been less large-scale study on adult/adolescent AD. The aim of this study was to investigate the clinical features of adult/adolescent patients with chronic symmetrical eczema/AD and to propose Chinese diagnostic criteria for adult/adolescent AD. Methods: A hospital-based study was performed. Forty-two dermatological centers participated in this study. Adult and adolescent patients (12 years and over) with chronic symmetrical eczema or AD were included in this study. Questionnaires were completed by both patients and investigators. The valid questionnaires were analyzed using EpiData 3.1 and SPSS 17.0 software. Results: A total of 2662 valid questionnaires were collected (1369 male and 1293 female). Of all 2662 patients, 2062 (77.5%) patients had the disease after 12 years old, while only 600 (22.5%) patients had the disease before 12 years old, suggesting late-onset eczema/AD is common. Two thousand one hundred and thirty-nine (80.4%) patients had the disease for more than 6 months. One thousand one hundred and forty-four (43.0%) patients had a personal and/or family history of atopic diseases. One thousand five hundred and forty-eight (58.2%) patients had an elevated total serum IgE and/or eosinophilia and/or positive allergen-specific IgE. Based on these clinical and laboratory features, we proposed Chinese criteria for adult/adolescent AD. Of all 2662 patients, 60.3% were satisfied with our criteria, while only 48.2% satisfied with Hanifin Rajka criteria and 32.7% satisfied with Williams criteria, suggesting a good sensitivity of our criteria in adult/adolescent AD patients. Conclusion: Late-onset of eczema or AD is

  14. Demographic and Clinical Features of Pediatric Uveitis at a Tertiary Referral Center in Iran

    PubMed Central

    Rahimi, Mansour; Oustad, Marjan; Ashrafi, Afsaneh

    2016-01-01

    Purpose: To determine the clinical features and distribution of uveitis in the pediatric age group at a referral eye care center in Shiraz, South Iran. Materials and Methods: All new cases of uveitis in patients 18-year-old or younger referred from January 2007 to December 2013 were enrolled in this study. The patient underwent a complete history of systemic and ocular diseases, comprehensive ophthalmic examination. Patients were classified according to the International Uveitis Study Group definitions. The definitive diagnosis was based on clinical manifestations and laboratory investigations. Results: Seventy-seven eyes (54 patients) comprised the study sample. The mean age at the onset of uveitis was 12.5 years. The female-to-male ratio was 1.25. Anterior uveitis was the most frequent anatomical location (40.7%), followed by intermediate uveitis (33.3%), posterior uveitis (18.5%), and panuveitis (7.5%). Seventy-four percent of patients presented with chronic uveitis. Noninfectious uveitis (81.5%) was the most frequent etiology. Thirty-seven percent of patients had a specific diagnosis for uveitis, and 63% were classified as idiopathic cases. Toxocariasis was the most common infectious cause. Associated systemic diseases were present in 14.8% of patients. The most frequent systemic disease was juvenile idiopathic arthritis in 9.2% of patients. Complications occurred in 66 (85.5%) of affected eyes. The most common complications were posterior synechia (20.7%), cataract (18.8%), and cystoid macular edema (12.9%). Conclusions: Uveitis in the majority of children had an insidious onset and was chronic. Over half the patients had a specific diagnosis. Idiopathic cases were more common in the intermediate uveitis group. PMID:27555706

  15. Lupus Nephritis in Asia: Clinical Features and Management

    PubMed Central

    Yap, Desmond Y.H.; Chan, Tak Mao

    2015-01-01

    Background Lupus nephritis (LN) is a common and severe organ involvement manifesting itself in systemic lupus erythematosus (SLE). There is a considerable difference in prevalence, severity, treatment response and outcomes between Asian LN patients and LN patients from other racial backgrounds. Summary Asian SLE patients have a higher prevalence of LN than Caucasian SLE patients and often present with a more severe disease. Increasing data from genetic studies, accompanied by progress in high-throughput genotyping, have advanced our knowledge about genetic predispositions that might partly contribute to the clinical variations observed. Corticosteroids combined with either cyclophosphamide (CYC) or mycophenolic acid (MPA) is the current standard-of-care induction regimen for severe LN irrespective of race or ethnicity. However, the preference for MPA or CYC, and possibly the optimum dose for MPA, is influenced by the patient's origin. Also, there is an insufficient evidence base for reduced-dose intravenous CYC in Asian patients. Health economics and access to prompt diagnosis and treatment are still challenging issues in some Asian regions. The former represents a significant obstacle limiting the access of patients to MPA despite the proven efficacy of the drug as an induction agent and its superiority over azathioprine (AZA) in preventing disease flares when used for long-term maintenance immunosuppression. Calcineurin inhibitors such as tacrolimus deserve further investigation in view of their additional effect on podocytes by reducing proteinuria and the promising data from Asian patients. Despite considerable advances in the clinical management of LN over the past few decades with resultant improvements in patients' outcomes, there are still knowledge gaps and unmet clinical needs. Asia has made substantial contributions to the evidence base that guides clinical management and continues to offer invaluable opportunities for research pursuits. Key Messages

  16. Clinical and laboratory features of 14 young Chinese probable sCJD patients.

    PubMed

    Shi, Qi; Xiao, Kang; Chen, Cao; Zhou, Wei; Gao, Chen; Wang, Jing; Zhang, Bao-Yun; Wang, Yuan; Dong, Xiao-Ping

    2017-03-09

    Sporadic Creutzfeldt-Jakob disease (sCJD) occurs frequently in the relatively older population, mainly in the groups of 60-69 and 70-79 year-old. Since 2006 when China performed national CJD surveillance, 14 young probable sCJD patients below 40 year-old were identified, counting for 1.93% of all probable sCJD cases. The clinical features of young probable sCJD cases, including the onset feature, the presence of sCJD-associated signs and the clinical duration, are indistinguishable from those of older patients. Special sCJD-associated abnormalities on EEG and MRI were noticed in 7 and 10 cases. CSF 14-3-3 was positive in 7 cases. CSF RT-QuIC showed positive reactive curves in 9 cases, with short lag phases. PRNP sequencing did not find any mutation. Due to low rate of brain autopsy in China, performances of other CJD-associated examinations as much as possible are extremely important for the distinguish diagnosis of young probable sCJD patients.

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

    PubMed Central

    Özmen, Meral; Dilber, Cengiz; Tatlı, Burak; Aydınlı, Nur; Çalışkan, Mine; Ekici, Barış

    2011-01-01

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

  18. Tentative clinical diagnosis of Lujan-Fryns syndrome--A conglomeration of different genetic entities?

    PubMed

    Hackmann, Karl; Rump, Andreas; Haas, Stefan A; Lemke, Johannes R; Fryns, Jean-Pierre; Tzschach, Andreas; Wieczorek, Dagmar; Albrecht, Beate; Kuechler, Alma; Ripperger, Tim; Kobelt, Albrecht; Oexle, Konrad; Tinschert, Sigrid; Schrock, Evelin; Kalscheuer, Vera M; Di Donato, Nataliya

    2016-01-01

    The clinical diagnosis of Lujan-Fryns syndrome (LFS) comprises X-linked intellectual disability (XLID) with marfanoid habitus, distinct combination of minor facial anomalies and nasal speech. However the definition of syndrome was significantly broadened since the original report and implies ID with marfanoid habitus. Mutations of three genes (MED12, UPF3B, and ZDHHC9) have been reported in "broadly defined" LFS. We examined these genes in 28 individuals with a tentative clinical diagnosis of LFS but we did not identify any causative mutation. By molecular karyotyping we detected other disorders, i.e., Phelan-McDermid syndrome and 16p11.2 microduplication, each in one patient. One affected individual was carrier of a different recurrent duplication on 16p11.2 that has been reported several times to the DECIPHER and ISCA databases in individuals with autism, intellectual disability (ID), and developmental delay. It may represent a new duplication syndrome. We also identified previously unreported de novo duplication on chromosome 12p13.31 which we considered to be disease-causing. X-exome sequencing of four individuals revealed private or non-recurrent mutations in NKAP and LAS1L in one patient each. While LFS is defined as a form of XLID, there seem to be various conditions that have rather similar phenotypes. Therefore, the combination of ID and marfanoid habitus in a male patient is not sufficient for the diagnosis of LFS. We suggest that the diagnosis of LFS in patients with ID and marfanoid habitus should be made only in presence of specific facial features, nasal speech and obvious X-linked segregation of the disorder or an unambiguously pathogenic mutation in the MED12.

  19. [Piriformis muscle syndrome: etiology, pathogenesis, clinical manifestations, diagnosis, differential diagnosis and therapy].

    PubMed

    Grgić, Vjekoslav

    2013-01-01

    variations of PM and SN. In 5-6% of patients with low back pain and/or unilateral sciatica, the pain is caused by PM disorders. PS diagnosis can be made on the basis of anamnesis, clinical picture, clinical examination, EMNG, perisciatic anesthetic block of PM and radiological exams (pelvis/PM MRI; MR neurography of LS plexus and SN). PS therapy includes medicamentous therapy, physical therapy, kynesitherapy, acupuncture, therapeutic perisciatic blocks, botulinum toxin injections and surgical treatment (tenotomy of PM, neurolysis of SN).

  20. Clinical features of polyhydramnios associated with fetal anomalies.

    PubMed

    Hara, Kikue; Kikuchi, Akihiko; Miyachi, Keiko; Sunagawa, Sorahiro; Takagi, Kimiyo

    2006-12-01

    The purpose of this study was to examine the clinical features of pregnancy complicated by polyhydramnios associated with fetal anomalies. Sixty-nine patients with a singleton pregnancy complicated by polyhydramnios were retrospectively analyzed. Based on prenatal ultrasonographic findings, 13 cases were considered to have idiopathic polyhydramnios and the remaining 56 cases were associated with fetal anomalies. Between these two groups, no significant difference was found in the gestational weeks when polyhydramnios developed. However, significant difference was noted in the maximum amniotic fluid index (AFI) values during the pregnancy period; 25.4 +/- 2.7 cm in the former, and 30.6 +/- 8.9 cm in the latter (P = 0.0004). In all of 13 cases with idiopathic polyhydramnios, AFI values remained less than 30 cm until delivery. Twenty-two patients (39%) with fetal anomalies required a prenatal treatment such as amnioreduction and tocolysis, whereas only one patient (7.7%) with idiopathic polyhydramnios needed tocolysis therapy (P = 0.03). There was a significant risk of premature delivery with fetal anomalies (35.6 +/- 3.9 weeks' gestation vs. 38.8 +/- 1.5 weeks' gestation, P = 0.004) because of refractory polyhydramnios, rupture of membranes, non-reassuring fetal status, and intrauterine fetal death, and although most infants with idiopathic polyhydramnios were appropriate-for-dates, many of the infants with congenital anomalies were small-for-dates. Significant risk of fetal anomalies should be considered in pregnant women with severe polyhydramnios (AFI > or = 30 cm), an increased trend of amniotic fluid during the pregnancy period, polyhydramnios requiring a prenatal treatment, or fetal growth restriction. On the other hand, based on our experience, a fetus without these conditions seems to have a low risk of congenital anomalies even if polyhydramnios is noted.

  1. Characteristic clinical features associated with aggressive posterior retinopathy of prematurity.

    PubMed

    Ahn, Y J; Hong, K E; Yum, H R; Lee, J H; Kim, K S; Youn, Y A; Park, S H

    2017-02-24

    PurposeTo identify the risk factors for, and clinical features and treatment outcomes of aggressive posterior retinopathy of prematurity (APROP) in Korean infants.MethodsAmong 770 premature infants who underwent screening, 105 infants (198 eyes, 13.63%) received treatment for ROP. A total of 24 infants (48 eyes, 3.12%) developed APROP while 81 infants (150 eyes, 10.52%) developed non-APROP treatment-requiring type. The medical records of ROP-treated infants were reviewed retrospectively. The associated systemic and maternal risk factors were analyzed and anatomical outcomes were compared according to the severity of ROP and treatment modalities.ResultsThe mean gestational age and birth weight at birth in the APROP group were significantly lower than those in the non-APROP group (P=0.019, P<0.001, respectively). Infants who were born small for their GA developed APROP more frequently than non-APROP patients (P<0.001). Chorioamnionitis-positive infants also showed higher incidence rate of APROP (APROP vs non-APROP; P<0.001 and zone I APROP vs posterior zone II APROP; P=0.036, respectively). Infants with APROP required heavier laser treatment with a higher retreatment rate compared to infants with non-APROP. Favorable anatomical outcomes were achieved in 95.3% from treatment-requiring non-APROP group, 85.7% from zone I APROP and 84.6% from posterior zone II APROP group.ConclusionIntrauterine growth restriction and chorioamnionitis were associated with development of APROP. These findings suggest that perinatal maternal environment inhibiting normal retinal vascular growth in utero may contribute to increasing the risk of APROP in premature infants.Eye advance online publication, 24 February 2017; doi:10.1038/eye.2017.18.

  2. A new 3D texture feature based computer-aided diagnosis approach to differentiate pulmonary nodules

    NASA Astrophysics Data System (ADS)

    Han, Fangfang; Wang, Huafeng; Song, Bowen; Zhang, Guopeng; Lu, Hongbing; Moore, William; Zhao, Hong; Liang, Zhengrong

    2013-02-01

    To distinguish malignant pulmonary nodules from benign ones is of much importance in computer-aided diagnosis of lung diseases. Compared to many previous methods which are based on shape or growth assessing of nodules, this proposed three-dimensional (3D) texture feature based approach extracted fifty kinds of 3D textural features from gray level, gradient and curvature co-occurrence matrix, and more derivatives of the volume data of the nodules. To evaluate the presented approach, the Lung Image Database Consortium public database was downloaded. Each case of the database contains an annotation file, which indicates the diagnosis results from up to four radiologists. In order to relieve partial-volume effect, interpolation process was carried out to those volume data with image slice thickness more than 1mm, and thus we had categorized the downloaded datasets to five groups to validate the proposed approach, one group of thickness less than 1mm, two types of thickness range from 1mm to 1.25mm and greater than 1.25mm (each type contains two groups, one with interpolation and the other without). Since support vector machine is based on statistical learning theory and aims to learn for predicting future data, so it was chosen as the classifier to perform the differentiation task. The measure on the performance was based on the area under the curve (AUC) of Receiver Operating Characteristics. From 284 nodules (122 malignant and 162 benign ones), the validation experiments reported a mean of 0.9051 and standard deviation of 0.0397 for the AUC value on average over 100 randomizations.

  3. Clinical Features of Patients with Multiple Sclerosis and Neuromyelitis Optica Spectrum Disorders

    PubMed Central

    Chen, Hai; Liu, Shi-Meng; Zhang, Xu-Xiang; Liu, Ya-Ou; Li, Si-Zhao; Liu, Zheng; Dong, Hui-Qing

    2016-01-01

    Background: Neuromyelitis optica spectrum disorder (NMOSD) was long believed to be an aggressive form of multiple sclerosis (MS). This study aimed to describe the clinical features of patients with MS and NMOSD to assist in differential diagnoses in clinical practice. Methods: Data including the patients’ serum and cerebrospinal fluid (CSF) tests, image findings, and clinical information from 175 patients with MS or NMOSD at Xuanwu Hospital, Capital Medical University from November 2012 to May 2014 were collected and analyzed retrospectively. An enzyme-linked immunosorbent assay was performed to detect the myelin oligodendrocyte glycoprotein (MOG) autoantibodies in CSF and serum. Cell-based assays were used to detect aquaporin-4-antibody (AQP4-Ab). The Chi-square test was used to compare the categorical variables. Wilcoxon rank sum test was performed to analyze the continuous variables. Results: Totally 85 MS patients (49%) and 90 NMOSD patients (51%) were enrolled, including 124 (71%) women and 51 (29%) men. Fewer MS patients (6%) had autoimmune diseases compared to NMOSD (19%) (χ2 = 6.9, P < 0.01). Patients with NMOSD had higher Expanded Disability Status Scale scores (3.5 [3]) than MS group (2 [2]) (Z = −3.69, P < 0.01). The CSF levels of white cell count and protein in both two groups were slightly elevated than the normal range, without significant difference between each other. Positivity of serum AQP4-Ab in NMOSD patients was higher than that in MS patients (MS: 0, NMOSD: 67%; χ2 = 63.9, P < 0.01). Oligoclonal bands in CSF among NMOSD patients were remarkably lower than that among MS (MS: 59%, NMOSD: 20%; χ2 = 25.7, P < 0.01). No significant difference of MOG autoantibodies was found between the two groups. Conclusion: The different CSF features combined with clinical, magnetic resonance imaging, and serum characteristics between Chinese patients with MS and NMOSD could assist in the differential diagnosis. PMID:27569235

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

    PubMed Central

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

    2016-01-01

    Objective To assess the differences in incidence, clinical features, current treatment strategies and outcome in patients with type-2 vs. type-1 acute myocardial infarction (AMI). Methods We included 824 consecutive patients with a diagnosis of type-1 or type-2 AMI. During index hospitalization, clinical features and treatment strategies were collected in detail. At 1-year follow-up, mortality, stroke, non-fatal myocardial infarction and major bleeding were recorded. Results Type-1 AMI was present in 707 (86%) of the cases while 117 (14%) were classified as type-2. Patients with type-2 AMI were more frequently female and had higher co-morbidities such as diabetes, previous non-ST segment elevation acute coronary syndromes, impaired renal function, anaemia, atrial fibrillation and malignancy. However, preserved left ventricular ejection fraction and normal coronary arteries were more frequently seen, an invasive treatment was less common, and anti-platelet medications, statins and beta-blockers were less prescribed in patients with type-2 AMI. At 1-year follow-up, type-2 AMI was associated with a higher crude mortality risk (HR: 1.75, 95% CI: 1.14–2.68; P = 0.001), but this association did not remain significant after multivariable adjustment (P = 0.785). Furthermore, we did not find type-2 AMI to be associated with other clinical outcomes. Conclusions In this real-life population, compared with type-1, type-2 AMI were predominantly women and had more co-morbidities. Invasive treatment strategies and cardioprotective medications were less used in type-2, while the 1-year clinical outcomes were similar. PMID:26918008

  5. Clinical features and natural history of cryptogenic cirrhosis compared to hepatitis C virus-related cirrhosis

    PubMed Central

    Rinaldi, Luca; Nascimbeni, Fabio; Giordano, Mauro; Masetti, Chiara; Guerrera, Barbara; Amelia, Annalisa; Fascione, Maria Chiara; Ballestri, Stefano; Romagnoli, Dante; Zampino, Rosa; Nevola, Riccardo; Baldelli, Enrica; Iuliano, Natalina; Rosato, Valerio; Lonardo, Amedeo; Adinolfi, Luigi Elio

    2017-01-01

    AIM To characterize natural history of cryptogenic cirrhosis (CC) and compare its clinical features and outcomes to those of hepatitis C virus (HCV)-related cirrhosis. METHODS A prospective cohort of 102 consecutive patients at their first diagnosis of CC were enrolled in this study. The clinical data and outcomes were compared to an age- and Child-Pugh class-matched cohort of 110 patients with HCV-related cirrhosis. Diagnosis of cirrhosis was based on compatible clinical and laboratory parameters, ultrasound/endoscopic parameters and, whenever possible, on histological grounds and transient elastography. All cases of cirrhosis without a definite etiology were enrolled in the CC group. The parameters assessed were: (1) severity of liver disease at the time of first diagnosis; (2) liver decompensation during follow-up; (3) hepatocellular carcinoma (HCC); (4) orthotopic liver transplantation; and (5) death. The independent associated factors were evaluated by multiple logistic regression analysis, and survival and its determinants by the Kaplan-Meier model, log-rank test and Cox regression. RESULTS At the first observation, median age was 66 and 65 years and male gender was 36% and 58% for CC and HCV cirrhosis, respectively. CC showed Child-Pugh class A/B/C of 47%/31%/22%, respectively. Compared to HCV cirrhosis, CC exhibited a significantly higher prevalence of metabolic syndrome (12% vs 54%, respectively), overweight/obesity, high BMI, impaired glucose tolerance, high blood pressure, dyslipidemia, hyperuricemia, cardiovascular diseases, extrahepatic cancer, and gallstones. Over a median period of 42 mo of follow-up, liver decompensation, HCC development and death for CC and HCV-related cirrhosis were 60.8%, and 54.4%, 16.7% and 17.2%, 39.2% and 30%, respectively. The median survival was 60 mo for CC. Independent predictors of death were age and Child-Pugh class at diagnosis. CC showed an approximately twofold higher incidence of HCC in Child-Pugh class A

  6. Variability of the diagnosis of stroke by clinical judgement and by a scoring method

    PubMed Central

    Hatano, S.

    1976-01-01

    Existing criteria for the diagnosis of acute cerebrovascular disease (stroke) have not been satisfactory in epidemiological studies. Variability of the diagnosis of stroke, which had not been studied before, was investigated in a WHO collaborative study. Intra-observer and inter-observer variation of the diagnosis of stroke was studied by means of 45 case reports drawn at random from among those included in the study. Diagnosis of stroke and of the type of stroke was made by clinical judgement and by a scoring method. The clinical diagnosis of stroke was more consistent and more comparable than the diagnosis of the type of stroke. Inter-observer agreement in clinical diagnosis was improved by using the score method. PMID:1088403

  7. Clinical presentation and diagnosis of toxoplasmic encephalitis in Japan.

    PubMed

    Sakamoto, Naoya; Maeda, Takuya; Mikita, Kei; Kato, Yasuyuki; Yanagisawa, Naoki; Suganuma, Akihiko; Imamura, Akifumi; Nakamura-Uchiyama, Fukumi; Miyahira, Yasushi; Kawana, Akihiko; Ohnishi, Kenji; Ajisawa, Atsushi

    2014-10-01

    Distinguishing life-threatening toxoplasmic encephalitis (TE) from brain lymphoma in patients with acquired immunodeficiency syndrome (AIDS) may be difficult. Empiric anti-toxoplasmosis treatment is often initiated because of the reluctance in performing brain biopsies, which may delay the diagnosis and treatment of brain lymphoma in Japan. In this study, we retrospectively examined the clinical characteristics of 13 AIDS patients with TE in Japan, including magnetic resonance imaging and thallium 201 (201TI) single photon emission computed tomography (SPECT) findings, cerebral spinal fluid analysis, serology, and polymerase chain reaction (PCR) results. All patients improved on anti-toxoplasmosis treatment. Of the 11 patients who underwent serological testing, 6 (55%) had a positive serological result. Of the 7 patients who underwent PCR testing, 3 (42.9%) had a positive PCR result. Nine of 11 patients with TE (81.8%) had multiple lesions. Analysis of the sites of TE lesions did not reveal a difference in site predilection between TE and brain lymphoma. Uptake was negative in all 9 patients who underwent 201Tl SPECT. The study findings suggest that toxoplasma serostatus and PCR may be used to discriminate TE from brain lymphoma. No focal accumulation of 201TI is strongly suggestive of TE in patients with AIDS in Japan.

  8. C7 radiculopathy: importance of scapular winging in clinical diagnosis.

    PubMed

    Makin, G J; Brown, W F; Ebers, G C

    1986-06-01

    Lesions of the seventh cervical (C7) root are common and cause a readily recognised neurological syndrome. Recognition of this pattern is essential in differentiating C7 root lesions from lesions of the brachial plexus or peripheral nerves. Serratus anterior weakness is not generally included in this syndrome. We report six verified cases of C7 radiculopathy in which weakness of the serratus anterior was present in addition to the usual findings. This was manifest as winging of the scapula, when pushing forward against a wall, either with the hands at shoulder level or, in some cases, only when the hands were lowered to waist level. This latter method of testing places the muscle at a mechanical disadvantage and reveals partial paralysis. Analysis of this clinical finding complements anatomical evidence suggesting that the powerful lower digitations of the muscle may be primarily supplied by the C7 root in some cases. Scapular winging, apparent either in the usual position or the modified position described here, should be recognised as consistent with a diagnosis of C7 radiculopathy. When present, this sign serves to differentiate C7 radiculopathy from lesions of the brachial plexus or radial nerve.

  9. C7 radiculopathy: importance of scapular winging in clinical diagnosis.

    PubMed Central

    Makin, G J; Brown, W F; Ebers, G C

    1986-01-01

    Lesions of the seventh cervical (C7) root are common and cause a readily recognised neurological syndrome. Recognition of this pattern is essential in differentiating C7 root lesions from lesions of the brachial plexus or peripheral nerves. Serratus anterior weakness is not generally included in this syndrome. We report six verified cases of C7 radiculopathy in which weakness of the serratus anterior was present in addition to the usual findings. This was manifest as winging of the scapula, when pushing forward against a wall, either with the hands at shoulder level or, in some cases, only when the hands were lowered to waist level. This latter method of testing places the muscle at a mechanical disadvantage and reveals partial paralysis. Analysis of this clinical finding complements anatomical evidence suggesting that the powerful lower digitations of the muscle may be primarily supplied by the C7 root in some cases. Scapular winging, apparent either in the usual position or the modified position described here, should be recognised as consistent with a diagnosis of C7 radiculopathy. When present, this sign serves to differentiate C7 radiculopathy from lesions of the brachial plexus or radial nerve. Images PMID:3734820

  10. Diagnosis and management of familial Mediterranean fever: integrating medical genetics in a dedicated interdisciplinary clinic.

    PubMed

    Zadeh, Neda; Getzug, Terri; Grody, Wayne W

    2011-03-01

    Familial Mediterranean fever is an autosomal recessive genetic disorder characterized by recurrent febrile polyserositis, especially prevalent in individuals of Mediterranean descent. Familial Mediterranean fever can have nonspecific manifestations that mimic many common acquired disorders such as infections, acute appendicitis, cholecystitis, and arthritis, which can delay diagnosis for many years and subject patients to extensive evaluations and even unnecessary surgery. Untreated familial Mediterranean fever can result in serious complications such as end-stage renal disease and malabsorption secondary to amyloid deposition in the kidneys and digestive tract, male and female infertility, and growth retardation in children. These significant sequelae, along with the episodic acute attacks, are readily preventable by treatment with oral colchicine and underscore the necessity of early detection and treatment from a medical, psychosocial, and economic standpoint. We describe our comprehensive approach to the accurate diagnosis and effective management of this disorder by means of a dedicated familial Mediterranean fever clinic that incorporates medical genetics on equal footing with general medicine. In addition to providing the clinician with the presenting features of familial Mediterranean fever, methods of diagnosis including molecular testing, and current management based on our extensive experience with hundreds of affected individuals, we also advance this approach as a model for the incorporation of medical genetics practice into the more traditional domains of general medicine.

  11. Light-induced autofluorescence and diffuse reflectance spectroscopy in clinical diagnosis of skin cancer

    NASA Astrophysics Data System (ADS)

    Borisova, E.; Pavlova, E.; Kundurjiev, T.; Troyanova, P.; Genova, Ts.; Avramov, L.

    2014-05-01

    We investigated more than 500 clinical cases to receive the spectral properties of basal cell (136 patients) and squamous cell carcinoma (28), malignant melanoma (41) and different cutaneous dysplastic and benign cutaneous lesions. Excitation at 365, 385 and 405 nm using LEDs sources is applied to obtain autofluorescence spectra, and broad-band illumination in the region of 400-900 nm is used to detect diffuse reflectance spectra of all pathologies investigated. USB4000 microspectrometer (Ocean Optics Inc, USA) is applied as a detector and fiber-optic probe is used for delivery of the light. In the case of in vivo tumor measurements spectral shape and intensity changes are observed that are specific for a given type of lesion. Autofluorescence origins of the signals coming from skin tissues are mainly due to proteins, such as collagen, elastin, keratin, their cross-links, co-enzimes - NADH and flavins and endogenous porphyrins. Spectral features significant into diffuse spectroscopy diagnosis are related to the effects of re-absorption of hemoglobin and its forms, as well as melanin and its concentration in different pathologies. We developed significant database and revealed specific features for a large class of cutaneous neoplasia, using about 30 different spectral peculiarities to differentiate cutaneous tumors. Sensitivity and specificity obtained exceed 90%, which make optical biopsy very useful tool for clinical practice. These results are obtained in the frames of clinical investigations for development of significant "spectral features" database for the most common cutaneous malignant, dysplastic and benign lesions. In the forthcoming plans, our group tries to optimize the existing experimental system for optical biopsy of skin, and to introduce it and the diagnostic algorithms developed into clinical practice, based on the high diagnostic accuracy achieved.

  12. Clinical features and prognosis of a sample of patients with trisomy 13 (Patau syndrome) from Brazil.

    PubMed

    Petry, Patrícia; Polli, Janaina B; Mattos, Vinícius F; Rosa, Rosana C M; Zen, Paulo R G; Graziadio, Carla; Paskulin, Giorgio A; Rosa, Rafael F M

    2013-06-01

    Trisomy 13 or Patau syndrome (PS) is a chromosomal disorder characterized by a well known presentation of multiple congenital anomalies. Our objective was to determine the clinical features and prognosis observed in a sample of patients with PS. The series was composed of patients with diagnosis of PS consecutively evaluated by a Clinical Genetics Service from a reference hospital of southern Brazil, in the period between 1975 and 2012. Statistical analysis was performed using PEPI program (version 4.0), with two-tailed Fisher's exact test for comparison of frequencies (P<0.05). The sample consisted of 30 patients, 60% male, median age at first evaluation of 9 days. Full trisomy of chromosome 13 was the main cytogenetic alteration (73%). The major clinical findings included: cryptorchidism (78%), abnormal auricles (77%), congenital heart defects (76%), polydactyly (63%), microphthalmia (60%) and micrognathia (50%). Four patients (13%) simultaneously had micro/anophthalmia, oral clefts and polydactyly. Some findings were only observed in our sample and included, among others, preauricular tags (10%), duplication of the hallux (3%) and spots following the lines of Blaschko (3%). Mosaicism (20% of cases) had a statistically significant association only with absence of cryptorchidism. The median of survival was 26 days. Patients with and without mosaicism had similar median of survival. Our findings, in agreement with the literature, show that the anomalies in patients with PS can be quite variable, sometimes even atypical. There is no pathognomonic finding, which may make the early identification of these patients challenging.

  13. Clinical features and management of recurrent balanitis; association with atopy and genital washing.

    PubMed Central

    Birley, H D; Walker, M M; Luzzi, G A; Bell, R; Taylor-Robinson, D; Byrne, M; Renton, A M

    1993-01-01

    OBJECTIVE--To evaluate clinical features and diagnostic investigations in patients with recurrent or unresponsive balanitis in order to institute rational management. DESIGN--Forty-three patients presenting to a genitourinary medicine clinic with recurrent or persistent balanitis were studied. All patients were asked whether they had a history of atopic illness and about their practice of genital washing. All patients were investigated by taking a swab specimen from the preputial area for bacterial and viral culture and 30 underwent biopsy of the affected skin. Follow-up was between three and six months. SETTING--Outpatient genitourinary medicine clinic, St Mary's Hospital, London, UK. RESULTS--In 31 (72%) of the patients a diagnosis of irritant dermatitis was made. In comparison with the remaining patients, they had a greater lifetime incidence of atopic illness and more frequent daily genital washing with soap. For 28 (90%) of these patients, use of emollient creams and restriction of soap washing alone controlled symptoms satisfactorily. For the remaining 12 patients, a variety of diagnoses were made. Biopsy proved a well tolerated and diagnostic investigation, but the isolation of microbial pathogens from preputial swabs was irrelevant to management. CONCLUSION--A history of atopic illness and of the practice of penile washing are important aspects in the evaluation of patients with recurrent balanitis. Biopsy is an important investigation in the condition when it does not seem to be caused by irritant dermatitis. PMID:8244363

  14. Multi-Stage Feature Selection by Using Genetic Algorithms for Fault Diagnosis in Gearboxes Based on Vibration Signal

    PubMed Central

    Cerrada, Mariela; Sánchez, René Vinicio; Cabrera, Diego; Zurita, Grover; Li, Chuan

    2015-01-01

    There are growing demands for condition-based monitoring of gearboxes, and techniques to improve the reliability, effectiveness and accuracy for fault diagnosis are considered valuable contributions. Feature selection is still an important aspect in machine learning-based diagnosis in order to reach good performance in the diagnosis system. The main aim of this research is to propose a multi-stage feature selection mechanism for selecting the best set of condition parameters on the time, frequency and time-frequency domains, which are extracted from vibration signals for fault diagnosis purposes in gearboxes. The selection is based on genetic algorithms, proposing in each stage a new subset of the best features regarding the classifier performance in a supervised environment. The selected features are augmented at each stage and used as input for a neural network classifier in the next step, while a new subset of feature candidates is treated by the selection process. As a result, the inherent exploration and exploitation of the genetic algorithms for finding the best solutions of the selection problem are locally focused. The approach is tested on a dataset from a real test bed with several fault classes under different running conditions of load and velocity. The model performance for diagnosis is over 98%. PMID:26393603

  15. Multi-Stage Feature Selection by Using Genetic Algorithms for Fault Diagnosis in Gearboxes Based on Vibration Signal.

    PubMed

    Cerrada, Mariela; Vinicio Sánchez, René; Cabrera, Diego; Zurita, Grover; Li, Chuan

    2015-09-18

    There are growing demands for condition-based monitoring of gearboxes, and techniques to improve the reliability, effectiveness and accuracy for fault diagnosis are considered valuable contributions. Feature selection is still an important aspect in machine learning-based diagnosis in order to reach good performance in the diagnosis system. The main aim of this research is to propose a multi-stage feature selection mechanism for selecting the best set of condition parameters on the time, frequency and time-frequency domains, which are extracted from vibration signals for fault diagnosis purposes in gearboxes. The selection is based on genetic algorithms, proposing in each stage a new subset of the best features regarding the classifier performance in a supervised environment. The selected features are augmented at each stage and used as input for a neural network classifier in the next step, while a new subset of feature candidates is treated by the selection process. As a result, the inherent exploration and exploitation of the genetic algorithms for finding the best solutions of the selection problem are locally focused. The Sensors 2015, 15 23904 approach is tested on a dataset from a real test bed with several fault classes under different running conditions of load and velocity. The model performance for diagnosis is over 98%.

  16. Analysis of the histologic features in the differential diagnosis of intrahepatic neonatal cholestasis

    PubMed Central

    Bellomo-Brandao, Maria Angela; Escanhoela, Cecilia AF; Meirelles, Luciana R; Porta, Gilda; Hessel, Gabriel

    2009-01-01

    AIM: To compare the histologic features of the liver in intrahepatic neonatal cholestasis (IHNC) with infectious, genetic-endocrine-metabolic, and idiopathic etiologies. METHODS: Liver biopsies from 86 infants with IHNC were evaluated. The inclusion criteria consisted of jaundice beginning at 3 mo of age and a hepatic biopsy during the 1st year of life. The following histologic features were evaluated: cholestasis, eosinophilia, giant cells, erythropoiesis, siderosis, portal fibrosis, and the presence of a septum. RESULTS: Based on the diagnosis, patients were classified into three groups: group 1 (infectious; n = 18), group 2 (genetic-endocrine-metabolic; n = 18), and group 3 (idiopathic; n = 50). There were no significant differences with respect to the following variables: cholestasis, eosinophilia, giant cells, siderosis, portal fibrosis, and presence of a septum. A significant difference was observed with respect to erythropoiesis, which was more severe in group 1 (Fisher’s exact test, P = 0.016). CONCLUSION: A significant difference was observed in IHNC of infectious etiology, in which erythropoiesis was more severe than that in genetic-endocrine-metabolic and idiopathic etiologies, whereas there were no significant differences among cholestasis, eosinophilia, giant cells, siderosis, portal fibrosis, and the presence of a septum. PMID:19152454

  17. Cavernous hemangioma-like kaposi sarcoma: histomorphologic features and differential diagnosis.

    PubMed

    Onak Kandemir, Nilüfer; Barut, Figen; Doğan Gün, Banu; Solak Tekin, Nilgün; Hallaç Keser, Sevinç; Oğuz Özdamar, Sükrü

    2013-01-01

    Aim. Cavernous hemangioma-like Kaposi sarcoma is a rare morphologic type of Kaposi sarcoma. So far there are no cases in the literature defining the histological features of this morphologic spectrum in detail. In this study we presented two classical-type cutaneous Kaposi sarcoma cases with histologic findings resembling cavernous hemangioma in company with clinical and histopathological data. Cases. One hundred and eighty-five classical-type cutaneous Kaposi sarcoma lesions in 79 patients were assessed retrospectively in terms of histopathological features. Findings of two cases showing features of cavernous hemangioma-like Kaposi sarcoma whose clinical data could be accessed were presented in accompany with the literature data. Both cases were detected to have bluish-purple, protruded, irregularly bordered cutaneous lesions. Histopathological examination revealed a lesion formed by cavernous hemangioma-like vascular structures organized in a lobular pattern that became dilated and filled with blood. Typical histological findings of early-stage KS, consisting of mononuclear inflammation, extravasated erythrocytes, and a few immature vascular structures in superficial dermis, were observed. All cases were serologically HIV-1 negative. A positive reaction with HHV-8, CD31, CD34, and D2-40 monoclonal antibodies was identified at both cavernous hemangioma-like areas and in immature vascular structures. Results. Cavernous hemangioma-like Kaposi sarcoma is a rare Kaposi sarcoma variant presenting with diagnostic challenges, that may be confused with hemangioma. As characteristic morphological features may not be observed in every case, it is important for diagnostic purposes to show immunohistochemical HHV-8 positivity in this variant.

  18. Clinical features of hypoadrenocorticism in soft-coated wheaten terrier dogs: 82 cases (1979-2013).

    PubMed

    Haviland, Rebecca L; Toaff-Rosenstein, Rachel L; Reeves, Matthew P; Littman, Meryl P

    2016-04-01

    The objective of this retrospective case series, which included 82 client-owned soft-coated wheaten terriers, was to characterize clinical features of hypoadrenocorticism in this breed. Median age at diagnosis was 3.5 years. There was no gender predilection. Clinicopathologic findings included sodium/potassium ratio < 27 (85%), hyperkalemia (76%), hyponatremia (63%), elevated blood urea nitrogen (83%) or creatinine (71%), and hypercalcemia (36%). Nine dogs with normal sodium and potassium (11%) were older and less often azotemic, hyperphosphatemic, or hypercalcemic. Twenty-one dogs (26%) developed protein-losing nephropathy (n = 18) and/or end-stage renal disease (n = 3). Overall median survival time was 5.4 years, but was shorter in dogs with normal sodium and potassium at diagnosis (4.2 years), or those with subsequent protein-losing nephropathy (4.2 years). This population showed no gender predilection, unlike that reported in the general canine population with hypoadrenocorticism, and more comorbid protein-losing nephropathy than in the general soft-coated wheaten terrier population.

  19. Clinical features of hypoadrenocorticism in soft-coated wheaten terrier dogs: 82 cases (1979–2013)

    PubMed Central

    Haviland, Rebecca L.; Toaff-Rosenstein, Rachel L.; Reeves, Matthew P.; Littman, Meryl P.

    2016-01-01

    The objective of this retrospective case series, which included 82 client-owned soft-coated wheaten terriers, was to characterize clinical features of hypoadrenocorticism in this breed. Median age at diagnosis was 3.5 years. There was no gender predilection. Clinicopathologic findings included sodium/potassium ratio < 27 (85%), hyperkalemia (76%), hyponatremia (63%), elevated blood urea nitrogen (83%) or creatinine (71%), and hypercalcemia (36%). Nine dogs with normal sodium and potassium (11%) were older and less often azotemic, hyperphosphatemic, or hypercalcemic. Twenty-one dogs (26%) developed protein-losing nephropathy (n = 18) and/or end-stage renal disease (n = 3). Overall median survival time was 5.4 years, but was shorter in dogs with normal sodium and potassium at diagnosis (4.2 years), or those with subsequent protein-losing nephropathy (4.2 years). This population showed no gender predilection, unlike that reported in the general canine population with hypoadrenocorticism, and more comorbid protein-losing nephropathy than in the general soft-coated wheaten terrier population. PMID:27041756

  20. Delay in diagnosis affects the clinical outcome in a cohort of cvid patients with marked reduction of iga serum levels.

    PubMed

    Graziano, Vincenzo; Pecoraro, Antonio; Mormile, Ilaria; Quaremba, Giuseppe; Genovese, Arturo; Buccelli, Claudio; Paternoster, Mariano; Spadaro, Giuseppe

    2017-03-25

    Common variable immunodeficiency disorders (CVID) represent a collection of diseases leading to an absent or strongly impaired antibody production. CVID presents a wide range of immunological abnormalities and clinical manifestations, including infections, inflammatory and autoimmune diseases, and malignancies. The aim of this observational study was to analyze the epidemiological and clinical features of a cohort of 75 Italian CVID patients, and evaluate the correlation with comorbidity and mortality. Clinical data were retrospectively collected: the cohort was followed-up for a maximum of 30years (mean time of 10.24years, median of 9years). An higher age at the diagnosis of CVID and an higher age at onset of symptoms were significantly associated with a reduction of patients survival if stratified per median of IgA (less than or >8.00mg/dl). Thus IgA levels at diagnosis are correlated with patients survival contributing to identify a subset with a worse prognostic outcome.

  1. Machine-learning-based diagnosis of schizophrenia using combined sensor-level and source-level EEG features.

    PubMed

    Shim, Miseon; Hwang, Han-Jeong; Kim, Do-Won; Lee, Seung-Hwan; Im, Chang-Hwan

    2016-10-01

    Recently, an increasing number of researchers have endeavored to develop practical tools for diagnosing patients with schizophrenia using machine learning techniques applied to EEG biomarkers. Although a number of studies showed that source-level EEG features can potentially be applied to the differential diagnosis of schizophrenia, most studies have used only sensor-level EEG features such as ERP peak amplitude and power spectrum for machine learning-based diagnosis of schizophrenia. In this study, we used both sensor-level and source-level features extracted from EEG signals recorded during an auditory oddball task for the classification of patients with schizophrenia and healthy controls. EEG signals were recorded from 34 patients with schizophrenia and 34 healthy controls while each subject was asked to attend to oddball tones. Our results demonstrated higher classification accuracy when source-level features were used together with sensor-level features, compared to when only sensor-level features were used. In addition, the selected sensor-level features were mostly found in the frontal area, and the selected source-level features were mostly extracted from the temporal area, which coincide well with the well-known pathological region of cognitive processing in patients with schizophrenia. Our results suggest that our approach would be a promising tool for the computer-aided diagnosis of schizophrenia.

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

    PubMed Central

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

    1995-01-01

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

  3. Amyloid imaging in the differential diagnosis of dementia: review and potential clinical applications

    PubMed Central

    2011-01-01

    In the past decade, positron emission tomography (PET) with carbon-11-labeled Pittsburgh Compound B (PIB) has revolutionized the neuroimaging of aging and dementia by enabling in vivo detection of amyloid plaques, a core pathologic feature of Alzheimer's disease (AD). Studies suggest that PIB-PET is sensitive for AD pathology, can distinguish AD from non-AD dementia (for example, frontotemporal lobar degeneration), and can help determine whether mild cognitive impairment is due to AD. Although the short half-life of the carbon-11 radiolabel has thus far limited the use of PIB to research, a second generation of tracers labeled with fluorine-18 has made it possible for amyloid PET to enter the clinical era. In the present review, we summarize the literature on amyloid imaging in a range of neurodegenerative conditions. We focus on potential clinical applications of amyloid PET and its role in the differential diagnosis of dementia. We suggest that amyloid imaging will be particularly useful in the evaluation of mildly affected, clinically atypical or early age-at-onset patients, and illustrate this with case vignettes from our practice. We emphasize that amyloid imaging should supplement (not replace) a detailed clinical evaluation. We caution against screening asymptomatic individuals, and discuss the limited positive predictive value in older populations. Finally, we review limitations and unresolved questions related to this exciting new technique. PMID:22071129

  4. Porcine circovirus type 2 (PCV2) infections: clinical signs, pathology and laboratory diagnosis.

    PubMed

    Segalés, Joaquim

    2012-03-01

    Clinical signs and pathological features are still the corner-stones to suspect and diagnose overt disease associated with PCV2 infection. The clinico-pathological scope of this viral infection has been expanded over time. From the initial description of postweaning multisystemic wasting syndrome, some enteric, respiratory and reproductive disorders have been subsequently linked with PCV2. Porcine dermatitis and nephropathy syndrome, an immunocomplex disease, has also been associated with infection by this virus. All together, these conditions have been grouped under the name of porcine circovirus diseases (PCVD) or porcine circovirus associated diseases (PCVAD). The precise mechanisms by which a PCV2 infected pig develops a PCV2 subclinical infection or a clinical PCVD/PCVAD are still to be fully elucidated, but inferences based upon clinical, gross and histologic findings from field cases of disease have been useful to suggest the pathogenesis of this viral infection. The objective of the present review is to update the current knowledge on the clinical and pathological scope of PCV2 infections, as well as on their diagnosis. Moreover, a proposal on a unified PCVD/PCVAD terminology and clearly defined diagnostic criteria for these conditions are also given.

  5. Efficient 3D texture feature extraction from CT images for computer-aided diagnosis of pulmonary nodules

    NASA Astrophysics Data System (ADS)

    Han, Fangfang; Wang, Huafeng; Song, Bowen; Zhang, Guopeng; Lu, Hongbing; Moore, William; Liang, Zhengrong; Zhao, Hong

    2014-03-01

    Texture feature from chest CT images for malignancy assessment of pulmonary nodules has become an un-ignored and efficient factor in Computer-Aided Diagnosis (CADx). In this paper, we focus on extracting as fewer as needed efficient texture features, which can be combined with other classical features (e.g. size, shape, growing rate, etc.) for assisting lung nodule diagnosis. Based on a typical calculation algorithm of texture features, namely Haralick features achieved from the gray-tone spatial-dependence matrices, we calculated two dimensional (2D) and three dimensional (3D) Haralick features from the CT images of 905 nodules. All of the CT images were downloaded from the Lung Image Database Consortium and Image Database Resource Initiative (LIDC-IDRI), which is the largest public chest database. 3D Haralick feature model of thirteen directions contains more information from the relationships on the neighbor voxels of different slices than 2D features from only four directions. After comparing the efficiencies of 2D and 3D Haralick features applied on the diagnosis of nodules, principal component analysis (PCA) algorithm was used to extract as fewer as needed efficient texture features. To achieve an objective assessment of the texture features, the support vector machine classifier was trained and tested repeatedly for one hundred times. And the statistical results of the classification experiments were described by an average receiver operating characteristic (ROC) curve. The mean value (0.8776) of the area under the ROC curves in our experiments can show that the two extracted 3D Haralick projected features have the potential to assist the classification of benign and malignant nodules.

  6. Kernel-based Joint Feature Selection and Max-Margin Classification for Early Diagnosis of Parkinson’s Disease

    PubMed Central

    Adeli, Ehsan; Wu, Guorong; Saghafi, Behrouz; An, Le; Shi, Feng; Shen, Dinggang

    2017-01-01

    Feature selection methods usually select the most compact and relevant set of features based on their contribution to a linear regression model. Thus, these features might not be the best for a non-linear classifier. This is especially crucial for the tasks, in which the performance is heavily dependent on the feature selection techniques, like the diagnosis of neurodegenerative diseases. Parkinson’s disease (PD) is one of the most common neurodegenerative disorders, which progresses slowly while affects the quality of life dramatically. In this paper, we use the data acquired from multi-modal neuroimaging data to diagnose PD by investigating the brain regions, known to be affected at the early stages. We propose a joint kernel-based feature selection and classification framework. Unlike conventional feature selection techniques that select features based on their performance in the original input feature space, we select features that best benefit the classification scheme in the kernel space. We further propose kernel functions, specifically designed for our non-negative feature types. We use MRI and SPECT data of 538 subjects from the PPMI database, and obtain a diagnosis accuracy of 97.5%, which outperforms all baseline and state-of-the-art methods. PMID:28120883

  7. Kernel-based Joint Feature Selection and Max-Margin Classification for Early Diagnosis of Parkinson’s Disease

    NASA Astrophysics Data System (ADS)

    Adeli, Ehsan; Wu, Guorong; Saghafi, Behrouz; An, Le; Shi, Feng; Shen, Dinggang

    2017-01-01

    Feature selection methods usually select the most compact and relevant set of features based on their contribution to a linear regression model. Thus, these features might not be the best for a non-linear classifier. This is especially crucial for the tasks, in which the performance is heavily dependent on the feature selection techniques, like the diagnosis of neurodegenerative diseases. Parkinson’s disease (PD) is one of the most common neurodegenerative disorders, which progresses slowly while affects the quality of life dramatically. In this paper, we use the data acquired from multi-modal neuroimaging data to diagnose PD by investigating the brain regions, known to be affected at the early stages. We propose a joint kernel-based feature selection and classification framework. Unlike conventional feature selection techniques that select features based on their performance in the original input feature space, we select features that best benefit the classification scheme in the kernel space. We further propose kernel functions, specifically designed for our non-negative feature types. We use MRI and SPECT data of 538 subjects from the PPMI database, and obtain a diagnosis accuracy of 97.5%, which outperforms all baseline and state-of-the-art methods.

  8. A gearbox fault diagnosis scheme based on near-field acoustic holography and spatial distribution features of sound field

    NASA Astrophysics Data System (ADS)

    Lu, Wenbo; Jiang, Weikang; Yuan, Guoqing; Yan, Li

    2013-05-01

    Vibration signal analysis is the main technique in machine condition monitoring or fault diagnosis, whereas in some cases vibration-based diagnosis is restrained because of its contact measurement. Acoustic-based diagnosis (ABD) with non-contact measurement has received little attention, although sound field may contain abundant information related to fault pattern. A new scheme of ABD for gearbox based on near-field acoustic holography (NAH) and spatial distribution features of sound field is presented in this paper. It focuses on applying distribution information of sound field to gearbox fault diagnosis. A two-stage industrial helical gearbox is experimentally studied in a semi-anechoic chamber and a lab workshop, respectively. Firstly, multi-class faults (mild pitting, moderate pitting, severe pitting and tooth breakage) are simulated, respectively. Secondly, sound fields and corresponding acoustic images in different gearbox running conditions are obtained by fast Fourier transform (FFT) based NAH. Thirdly, by introducing texture analysis to fault diagnosis, spatial distribution features are extracted from acoustic images for capturing fault patterns underlying the sound field. Finally, the features are fed into multi-class support vector machine for fault pattern identification. The feasibility and effectiveness of our proposed scheme is demonstrated on the good experimental results and the comparison with traditional ABD method. Even with strong noise interference, spatial distribution features of sound field can reliably reveal the fault patterns of gearbox, and thus the satisfactory accuracy can be obtained. The combination of histogram features and gray level gradient co-occurrence matrix features is suggested for good diagnosis accuracy and low time cost.

  9. Immune thrombocytopenia in adults: a prospective cohort study of clinical features and predictors of outcome

    PubMed Central

    Grimaldi-Bensouda, Lamiae; Nordon, Clémentine; Michel, Marc; Viallard, Jean-François; Adoue, Daniel; Magy-Bertrand, Nadine; Durand, Jean-Marc; Quittet, Philippe; Fain, Olivier; Bonnotte, Bernard; Morin, Anne-Sophie; Morel, Nathalie; Costedoat-Chalumeau, Nathalie; Pan-Petesch, Brigitte; Khellaf, Mehdi; Perlat, Antoinette; Sacre, Karim; Lefrere, François; Abenhaim, Lucien; Godeau, Bertrand

    2016-01-01

    This prospective observational cohort study aimed to explore the clinical features of incident immune thrombocytopenia in adults and predictors of outcome, while determining if a family history of autoimmune disorder is a risk factor for immune thrombocytopenia. All adults, 18 years of age or older, recently diagnosed with immune thrombocytopenia were consecutively recruited across 21 hospital centers in France. Data were collected at diagnosis and after 12 months. Predictors of chronicity at 12 months were explored using logistic regression models. The association between family history of autoimmune disorder and the risk of developing immune thrombocytopenia was explored using a conditional logistic regression model after matching each case to 10 controls. One hundred and forty-three patients were included: 63% female, mean age 48 years old (Standard Deviation=19), and 84% presented with bleeding symptoms. Median platelet count was 10×109/L. Initial treatment was required in 82% of patients. After 12 months, only 37% of patients not subject to disease-modifying interventions achieved cure. The sole possible predictor of chronicity at 12 months was a higher platelet count at baseline [Odds Ratio 1.03; 95%CI: 1.00, 1.06]. No association was found between outcome and any of the following features: age, sex, presence of either bleeding symptoms or antinuclear antibodies at diagnosis. Likewise, family history of autoimmune disorder was not associated with incident immune thrombocytopenia. Immune thrombocytopenia in adults has been shown to progress to a chronic form in the majority of patients. A lower platelet count could be indicative of a more favorable outcome. PMID:27229715

  10. [Clinical diagnosis and treatment of anti-NMDA (N-methyl-D-aspartate) receptor encephalitis].

    PubMed

    Kamei, Satoshi

    2013-05-01

    Recent clinical management of anti-NMDA receptor encephalitis is reviewed. This illness is required the management of the neurological emergency. Typical symptoms of anti-NMDA receptor encephalitis develop in several stages that progresses from psychosis, memory deficits, seizures, and language disintegration into a state of unresponsiveness with catatonic features often associated with abnormal movements, and autonomic and respiratory instability. The diagnosis is depended on the detection of the NMDA receptor antibody in CSF or serum under the above characteristic symptoms of encephalitis. The disorder predominantly affects children and young adults, occurs with or without tumor association. The presence of a tumor (usually an ovarian teratoma) is dependent on age and sex, being more frequent in women older than 18 years. Anti-NMDA receptor encephalitis should be treated with tumor resection and immunotherapy (corticosteroids, intravenous immunoglobulin, or plasma exchange) responded faster to treatment and less frequently needed second-line immunotherapy (cyclophosphamide or rituximab, or both).

  11. Clinical cancer diagnosis using optical fiber-delivered coherent anti-stokes ramon scattering microscopy

    NASA Astrophysics Data System (ADS)

    Gao, Liang

    This thesis describes the development of a combined label-free imaging and analytical strategy for intraoperative characterization of cancer lesions using the coherent anti-Stokes Raman scattering imaging (CARS) technique. A cell morphology-based analytical platform is developed to characterize CARS images and, hence, provide diagnostic information using disease-related pathology features. This strategy is validated for three different applications, including margin detection for radical prostatectomy, differential diagnosis of lung cancer, as well as detection and differentiation of breast cancer subtypes for in situ analysis of margin status during lumpectomy. As the major contribution of this thesis, the developed analytical strategy shows high accuracy and specificity for all three diseases and thus has introduced the CARS imaging technique into the field of human cancer diagnosis, which holds substantial potential for clinical translations. In addition, I have contributed a project aimed at miniaturizing the CARS imaging device into a microendoscope setup through a fiber-delivery strategy. A four-wave-mixing (FWM) background signal, which is caused by simultaneous delivery of the two CARS-generating excitation laser beams, is initially identified. A polarization-based strategy is then introduced and tested for suppression of this FWM noise. The approach shows effective suppression of the FWM signal, both on microscopic and prototype endoscopic setups, indicating the potential of developing a novel microendoscope with a compatible size for clinical use. These positive results show promise for the development of an all-fiber-based, label-free imaging and analytical platform for minimally invasive detection and diagnosis of cancers during surgery or surgical-biopsy, thus improving surgical outcomes and reducing patients' suffering.

  12. Early Diagnosis of Autism Spectrum Disorder: Stability and Change in Clinical Diagnosis and Symptom Presentation

    ERIC Educational Resources Information Center

    Guthrie, Whitney; Swineford, Lauren B.; Nottke, Charly; Wetherby, Amy M.

    2013-01-01

    Background: Although a diagnosis of autism spectrum disorder (ASD) appears to be stable in children as young as age three, few studies have explored stability of a diagnosis in younger children. Predictive value of diagnostic tools for toddlers and patterns of symptom change are important considerations for clinicians making early diagnoses. Most…

  13. Non specific aorto-arteritis. Clinical picture, diagnosis and therapy.

    PubMed

    Miani, S; De Monti, M; Keller, G; Bordoni, M G; Bianchi, E; Giordanengo, F

    1999-06-01

    This study is aimed at analyzing clinical features, angiographic findings and evolution of Takayasu's arteritis and the criteria adopted to establish the indication for non-surgical versus operative treatment. Eighteen patients affected by non specific aortarteritis were observed and treated at our Department between 1973 and 1996. All patients met the American College of Rheumatology 1990 criteria of classification of Takayasu's arteritis. Sixteen patients were young females. Two patients were males. Nine patients underwent surgical procedures. One young female underwent a PTA. All eight asymptomatic patients were only medically treated. One patient died some days after an aorto-bicarotid bypass graft due to acute myocardial infarction. Two other patients died two and four years after intervention for renal and cardiac failure respectively. One patient after an aorto bicarotid bypass underwent a left hemiplegia due to thrombosis of the right graft branch. All the other 14 patients either surgically or medically treated are well and are under strict surveillance through rigorous follow-up. The 10 patients who underwent surgical or interventional radiological treatment were certainly the most seriously affected patients and were symptomatic (presented neurological disturbances or a severe hypertensive state). This fact explains, to some extent, the mortality and morbidity rate observed in this group. The seven medically treated patients were completely asymptomatic in spite of a major involvement of various vascular districts.

  14. Primary Progressive Apraxia of Speech: Clinical Features and Acoustic and Neurologic Correlates

    PubMed Central

    Strand, Edythe A.; Clark, Heather; Machulda, Mary; Whitwell, Jennifer L.; Josephs, Keith A.

    2015-01-01

    Purpose This study summarizes 2 illustrative cases of a neurodegenerative speech disorder, primary progressive apraxia of speech (AOS), as a vehicle for providing an overview of the disorder and an approach to describing and quantifying its perceptual features and some of its temporal acoustic attributes. Method Two individuals with primary progressive AOS underwent speech-language and neurologic evaluations on 2 occasions, ranging from 2.0 to 7.5 years postonset. Performance on several tests, tasks, and rating scales, as well as several acoustic measures, were compared over time within and between cases. Acoustic measures were compared with performance of control speakers. Results Both patients initially presented with AOS as the only or predominant sign of disease and without aphasia or dysarthria. The presenting features and temporal progression were captured in an AOS Rating Scale, an Articulation Error Score, and temporal acoustic measures of utterance duration, syllable rates per second, rates of speechlike alternating motion and sequential motion, and a pairwise variability index measure. Conclusions AOS can be the predominant manifestation of neurodegenerative disease. Clinical ratings of its attributes and acoustic measures of some of its temporal characteristics can support its diagnosis and help quantify its salient characteristics and progression over time. PMID:25654422

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

    SciTech Connect

    Stanley, P.; Geer, G.D.; Miller, J.H.; Gilsanz, V.; Landing, B.H.; Boechat, I.M. )

    1989-08-15

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

  16. Sacroiliitis at diagnosis of juvenile spondyloarthritis assessed by radiography, magnetic resonance imaging, and clinical examination

    PubMed Central

    Weiss, Pamela F; Xiao, Rui; Biko, David M; Chauvin, Nancy A

    2015-01-01

    Objective We evaluated the prevalence of sacroiliitis at diagnosis of juvenile spondyloarthritis (JSpA) and the accuracy of physical examination and back pain to detect sacroiliitis, using imaging as the reference standard. Methods We performed a prospective cross-sectional study of 40 children with newly diagnosed JSpA and 14 healthy controls. Subjects were assessed using physical examination, anteroposterior pelvic radiograph, and pelvic MRI. Differences in clinical features between those children with and without sacroiliitis were assessed by Fisher’s exact test for categorical variables and Wilcoxon rank sum test for continuous variables. Accuracy of physical examination and back pain for detection of sacroiliitis was determined using MRI as the reference standard. Predicted probability of sacroiliitis was determined using exact multivariate logistic regression. Results Eight (20%) children with JSpA had active sacroiliitis. Of those subjects with active changes on MRI, 7/8 (88%) also had evidence of erosions or sclerosis. Five (13%) children with JSpA and 1 (7%) control had non-periarticular bone marrow edema. Of the subjects with active sacroiliitis only 3 (38%) reported a history of back pain or tenderness on palpation of the sacroiliac joints. The positive and negative predictive values of clinical exam features and back pain for detection of sacroiliitis were low. The estimated probability of having sacroiliitis was 0.84 (95% CI: 0.40–1.00) in HLA-B27+ patients with an elevated CRP. Conclusion Active sacroiliitis by MRI is common at diagnosis in JSpA and is frequently asymptomatic. Children who are HLA-B27+ and have elevated CRP levels have the highest probability of sacroiliitis. PMID:26212574

  17. Adenoid cystic carcinoma - Clinical presentation and cytological diagnosis.

    PubMed

    Dutta, N N; Baruah, R; Das, L

    2002-01-01

    Adenoid cystic carcinoma is a tumor arising from the minor salivary glands, the palate being the commonest site. It accounts for about 1% of all head and neck malignancies. We report a case with the typical presentation of a palatal growth with extensive intra-cranial invasion. The diagnosis of this case and a brief review of literature is discussed. Final diagnosis of this case was made from cytological reports. The dry smears stained with MGG were found to be definitely superior to the alcohol fixed slides stained with papanicolaou. The aim here is to highlight the importance of cytology in the diagnosis of such tumors.

  18. Factor V Deficiency in Korean Patients: Clinical and Laboratory Features, Treatment, and Outcome.

    PubMed

    Park, Young Hoon; Lim, Joo Han; Yi, Hyeon Gyu; Lee, Moon Hee; Kim, Chul Soo

    2016-02-01

    Due to rarity of factor V (FV) deficiency, there have been only a few case reports in Korea. We retrospectively analysed the clinical-laboratory features of FV deficiency in 10 Korean patients. Between January 1987 and December 2013, 10 case reports published in a Korean journal or proceedings of Korea Society on Thrombosis and Hemostasis were reviewed. Severity is defined as mild (> 5% of factor activity), moderate (1%-5%), and severe (< 1%). The median age at diagnosis, six males and four females, was 26 years (range, 1 month-73 years). Six of 10 patients were classified as moderate, three as mild, and one as severe disease. Eight patients were diagnosed as inherited FV deficiency. The most frequent symptoms were mucosal tract bleedings (40%) such as epistaxis, and menorrhagia in female. Hemarthroses and postoperative bleeding occurred in one and four patients, respectively. Life-threatening bleeding episodes occurred in the peritoneal cavity (n = 2), central nerve system (n = 1), and retroperitoneal space (n = 1). No lethal haemorrhages happened to patients with mild disease. The majority of bleeding episodes were controlled with local measures and fresh-frozen plasma replacement. Two acquired FV deficient-patients showing life-threatening haemorrhages received the immunosuppressive therapy, but one of them died from postoperative bleeding complications. Despite the small sample size of this study due to rarity of the disease, we found that Korean patients with FV deficiency had similar clinical manifestations and treatment outcomes shown in previous studies.

  19. Clinical and genetic features of Warts, Hypogammaglobulinemia, Infections and Myelokathexis (WHIM) syndrome.

    PubMed

    Dotta, L; Tassone, L; Badolato, R

    2011-06-01

    WHIM syndrome is a dominantly inherited primary immunodeficiency disorder representing the first identified example of human disease caused by mutations in the gene encoding for the chemokine receptor CXCR4. Pathogenesis is mediated by CXCR4 hyperfunction, leading to increased responsiveness to its unique ligand CXCL12 (also known as SDF-1). The altered CXCR4/CXCL12 interaction likely impairs cellular homeostasis and trafficking, resulting in immunological dysfunctions. The acronym WHIM resumes the main features of the syndrome: Warts, Hypogammaglobulinemia, Infections and Myelokathexis, which is abnormal retention of mature neutrophils in the bone marrow. WHIM patients suffer from recurrent bacterial infections since childhood and manifest a specific susceptibility to HPV infections. Hematological findings include neutropenia, lymphopenia and hypogammaglobulinemia. Because of the rarity of the disease and the heterogeneity in clinical presentation, diagnosis is often delayed. In the majority of patients, the phenotype is incomplete at the onset and WHIM syndrome is not suspected. Early identification may improve clinical and therapeutic management. Symptomatic treatments include G-CSF, substitutive immunoglobulins and antibiotic prophylaxis. A new therapeutic strategy might include the potent inhibitor of CXCR4 function plerixafor (Mozobil), as an agent specifically targeting the molecular defect in order to attenuate the phenotypic manifestations of the syndrome.

  20. Metabolic disorders with clinical and radiologic features of sporadic Creutzfeldt-Jakob disease.

    PubMed

    Rosenbloom, Michael H; Tartaglia, M Carmela; Forner, Sven A; Wong, Katherine K; Kuo, Amy; Johnson, David Y; Colacurcio, Valerie; Andrews, Bret D; Miller, Bruce L; DeArmond, Stephen J; Geschwind, Michael D

    2015-04-01

    Two patients with metabolic disorders presented with clinical and radiologic features suggestive of sporadic Creutzfeldt-Jakob disease (sCJD). Case 1 was a 50-year-old man with rapid decline in cognitive, behavioral, and motor function following new-onset seizures. MRI was read as consistent with CJD, and he was referred for a treatment trial, but it was determined that he recently experienced rapid correction of hyponatremia resulting in extrapontine myelinolysis. Case 2 was a 66-year-old woman with poorly controlled diabetes mellitus who was found unconscious after a suspected insulin overdose. Examination showed altered mental status and neuroimaging was remarkable for cortical/striatal hyperintensities suggestive of sCJD. On autopsy, she had hypoglycemic/hypoxic nerve cell loss. Although characteristic MRI findings have high sensitivity and specificity for sCJD, potentially reversible metabolic disorders sometimes present rapidly and can resemble sCJD both clinically and radiologically. These cases highlight the importance of establishing a broad differential diagnosis when evaluating a patient with suspected sCJD.

  1. Clinical and histopathological features of cutaneous manifestations of adult-onset Still disease.

    PubMed

    Santa, Erin; McFalls, Jeanne M; Sahu, Joya; Lee, Jason B

    2017-03-25

    Adult-onset Still disease (AOSD) is a rare autoinflammatory syndrome characterized by recurring fevers, arthralgia, and consistent laboratory abnormalities that include leukocytosis and hyperferritinemia. Skin findings accompany the disease in nearly 90% of the cases. Early reports described evanescent, pruritic, salmon-pink or urticarial lesions, referred to as the typical eruption of AOSD. Histopathologic findings consist of superficial perivascular dermatitis with varying number of interstitial neutrophils. Later reports described a more persistent rash that tended to be photodistributed, hyperpigmented, often in a linear configuration, sometimes in a rippled pattern, referred to as the atypical eruption of AOSD. The presence of individual necrotic keratinocytes in the upper spinous layer has been the consistent histopathologic finding. The persistent rash may not represent an atypical presentation of AOSD as recent reports indicate a high prevalence of the rash. Emerging data also suggest that patients with persistent eruption have a worse prognosis. The recognition of the clinical and histopathological findings of skin eruptions of AOSD may facilitate an earlier diagnosis, potentially improving disease outcome. Herein, clinical and histopathological features of cutaneous manifestation of AOSD in two Asian women are highlighted accompanied by relevant review of the disease.

  2. Factor V Deficiency in Korean Patients: Clinical and Laboratory Features, Treatment, and Outcome

    PubMed Central

    2016-01-01

    Due to rarity of factor V (FV) deficiency, there have been only a few case reports in Korea. We retrospectively analysed the clinical-laboratory features of FV deficiency in 10 Korean patients. Between January 1987 and December 2013, 10 case reports published in a Korean journal or proceedings of Korea Society on Thrombosis and Hemostasis were reviewed. Severity is defined as mild (> 5% of factor activity), moderate (1%–5%), and severe (< 1%). The median age at diagnosis, six males and four females, was 26 years (range, 1 month-73 years). Six of 10 patients were classified as moderate, three as mild, and one as severe disease. Eight patients were diagnosed as inherited FV deficiency. The most frequent symptoms were mucosal tract bleedings (40%) such as epistaxis, and menorrhagia in female. Hemarthroses and postoperative bleeding occurred in one and four patients, respectively. Life-threatening bleeding episodes occurred in the peritoneal cavity (n = 2), central nerve system (n = 1), and retroperitoneal space (n = 1). No lethal haemorrhages happened to patients with mild disease. The majority of bleeding episodes were controlled with local measures and fresh-frozen plasma replacement. Two acquired FV deficient-patients showing life-threatening haemorrhages received the immunosuppressive therapy, but one of them died from postoperative bleeding complications. Despite the small sample size of this study due to rarity of the disease, we found that Korean patients with FV deficiency had similar clinical manifestations and treatment outcomes shown in previous studies. PMID:26839474

  3. A clinical approach to diagnosis of autoimmune encephalitis.

    PubMed

    Graus, Francesc; Titulaer, Maarten J; Balu, Ramani; Benseler, Susanne; Bien, Christian G; Cellucci, Tania; Cortese, Irene; Dale, Russell C; Gelfand, Jeffrey M; Geschwind, Michael; Glaser, Carol A; Honnorat, Jerome; Höftberger, Romana; Iizuka, Takahiro; Irani, Sarosh R; Lancaster, Eric; Leypoldt, Frank; Prüss, Harald; Rae-Grant, Alexander; Reindl, Markus; Rosenfeld, Myrna R; Rostásy, Kevin; Saiz, Albert; Venkatesan, Arun; Vincent, Angela; Wandinger, Klaus-Peter; Waters, Patrick; Dalmau, Josep

    2016-04-01

    Encephalitis is a severe inflammatory disorder of the brain with many possible causes and a complex differential diagnosis. Advances in autoimmune encephalitis research in the past 10 years have led to the identification of new syndromes and biomarkers that have transformed the diagnostic approach to these disorders. However, existing criteria for autoimmune encephalitis are too reliant on antibody testing and response to immunotherapy, which might delay the diagnosis. We reviewed the literature and gathered the experience of a team of experts with the aims of developing a practical, syndrome-based diagnostic approach to autoimmune encephalitis and providing guidelines to navigate through the differential diagnosis. Because autoantibody test results and response to therapy are not available at disease onset, we based the initial diagnostic approach on neurological assessment and conventional tests that are accessible to most clinicians. Through logical differential diagnosis, levels of evidence for autoimmune encephalitis (possible, probable, or definite) are achieved, which can lead to prompt immunotherapy.

  4. A clinical approach to diagnosis of autoimmune encephalitis

    PubMed Central

    Graus, Francesc; Titulaer, Maarten J; Balu, Ramani; Benseler, Susanne; Bien, Christian G; Cellucci, Tania; Cortese, Irene; Dale, Russell C; Gelfand, Jeffrey M; Geschwind, Michael; Glaser, Carol A; Honnorat, Jerome; Höftberger, Romana; Iizuka, Takahiro; Irani, Sarosh R; Lancaster, Eric; Leypoldt, Frank; Prüss, Harald; Rae-Grant, Alexander; Reindl, Markus; Rosenfeld, Myrna R; Rostásy, Kevin; Saiz, Albert; Venkatesan, Arun; Vincent, Angela; Wandinger, Klaus-Peter; Waters, Patrick; Dalmau, Josep

    2016-01-01

    Encephalitis is a severe inflammatory disorder of the brain with many possible causes and a complex differential diagnosis. Advances in autoimmune encephalitis research in the past 10 years have led to the identification of new syndromes and biomarkers that have transformed the diagnostic approach to these disorders. However, existing criteria for autoimmune encephalitis are too reliant on antibody testing and response to immunotherapy, which might delay the diagnosis. We reviewed the literature and gathered the experience of a team of experts with the aims of developing a practical, syndrome-based diagnostic approach to autoimmune encephalitis and providing guidelines to navigate through the differential diagnosis. Because autoantibody test results and response to therapy are not available at disease onset, we based the initial diagnostic approach on neurological assessment and conventional tests that are accessible to most clinicians. Through logical differential diagnosis, levels of evidence for autoimmune encephalitis (possible, probable, or definite) are achieved, which can lead to prompt immunotherapy. PMID:26906964

  5. [Achondrogenesis. Ultrasonic diagnosis and clinical and anatomopathologic comparison].

    PubMed

    Mandjee, D; Clément, F; Belin, M; Harter, S; Clamaran, E

    1991-05-01

    The authors report two cases of achondrogenesis, the first of which was diagnosed in utero. Ultrasonographic abnormalities suggested the diagnosis, which was confirmed radiographically. The diagnosis of achondrogenesis in utero made it possible to avoid a Cesarian. It is always difficult to extract the malformed fetus. The histopathology findings make it possible to codify this rare type of congenital and lethal chondrodysplasia. Achondrogenesis is probably inherited in a recessive and autosomic fashion.

  6. Quantitative evaluation on the performance and feature enhancement of stochastic resonance for bearing fault diagnosis

    NASA Astrophysics Data System (ADS)

    Li, Guoying; Li, Jimeng; Wang, Shibin; Chen, Xuefeng

    2016-12-01

    Stochastic resonance (SR) has been widely applied in the field of weak signal detection by virtue of its characteristic of utilizing noise to amplify useful signal instead of eliminating noise in nonlinear dynamical systems. How to quantitatively evaluate the performance of SR, including the enhancement effect and the degree of waveform distortion, and how to accurately extract signal amplitude have become two important issues in the research on SR. In this paper, the signal-to-noise ratio (SNR) of the main component to the residual in the SR output is constructed to quantitatively measure the enhancement effect of the SR method. And two indices are constructed to quantitatively measure the degree of waveform distortion of the SR output, including the correlation coefficient between the main component in the SR output and the original signal, and the zero-crossing ratio. These quantitative indices are combined to provide a comprehensive quantitative index for adaptive parameter selection of the SR method, and eventually the adaptive SR method can be effective in enhancing the weak component hidden in the original signal. Fast Fourier Transform and Fourier Transform (FFT+FT) spectrum correction technology can extract the signal amplitude from the original signal and effectively reduce the difficulty of extracting signal amplitude from the distorted resonance output. The application in vibration analysis for bearing fault diagnosis verifies that the proposed quantitative evaluation method for adaptive SR can effectively detect weak fault feature of the vibration signal during the incipient stage of bearing fault.

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

    PubMed Central

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

    2005-01-01

    Objective To identify features of clinical decision support systems critical for improving clinical practice. Design Systematic review of randomised controlled trials. Data sources Literature searches via Medline, CINAHL, and the Cochrane Controlled Trials Register up to 2003; and searches of reference lists of included studies and relevant reviews. Study selection Studies had to evaluate the ability of decision support systems to improve clinical practice. Data extraction Studies were assessed for statistically and clinically significant improvement in clinical practice and for the presence of 15 decision support system features whose importance had been repeatedly suggested in the literature. Results Seventy studies were included. Decision support systems significantly improved clinical practice in 68% of trials. Univariate analyses revealed that, for five of the system features, interventions possessing the feature were significantly more likely to improve clinical practice than interventions lacking the feature. Multiple logistic regression analysis identified four features as independent predictors of improved clinical practice: automatic provision of decision support as part of clinician workflow (P < 0.00001), provision of recommendations rather than just assessments (P = 0.0187), provision of decision support at the time and location of decision making (P = 0.0263), and computer based decision support (P = 0.0294). Of 32 systems possessing all four features, 30 (94%) significantly improved clinical practice. Furthermore, direct experimental justification was found for providing periodic performance feedback, sharing recommendations with patients, and requesting documentation of reasons for not following recommendations. Conclusions Several features were closely correlated with decision support systems' ability to improve patient care significantly. Clinicians and other stakeholders should implement clinical decision support systems that incorporate these

  8. Masses of the pineal region: clinical presentation and radiographic features.

    PubMed

    Gaillard, Frank; Jones, Jeremy

    2010-10-01

    The pineal gland is important in structure, function and in the pathology that can affect it. The significance of the pathology of the gland and its adjacent structures is twofold: anatomical location, and biological behaviour of many of the lesions. The gland is in a critical anatomic location, and as the dorsal portions of the midbrain are compressed, patients may present with obstructive hydrocephalus, and/or with focal neurology. Masses and tumours of the pineal region range widely in behaviour, from the completely benign (eg, pineal cyst) to highly malignant (eg, pineoblastoma). Masses in the pineal region may be benign cysts (most common mass), tumours of various sources as well as rare vascular malformations that result in mass effect. Tumours of the pineal region represent a variety of histologies. Germ cell tumours are the most common: germinomas (50%), teratoma (15%), and choricocarcinoma (5%). Primary tumours of the pineal region make up 15% of all pineal tumours and represent a spectrum of aggressiveness. Other less common tumours also occur in the pineal region including metastatic spread and direct invasion from tumours arising in adjacent structures. Accurate diagnosis is essential to plan appropriate management, and early referral for medical imaging is a necessary first step. Although there is significant overlap in the imaging characteristics of some pineal masses, a distinction between aggressive and benign lesions is usually possible, and invaluable preoperative information is obtained in patients who require histological diagnosis.

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

    PubMed Central

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

    2015-01-01

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

  10. Clinical, Laboratory and Radiographic Features of Patients with Pneumonia and Parapneumonic Effusions

    PubMed Central

    Petrusevska-Marinkovic, Sanja; Kondova-Topuzovska, Irena; Milenkovic, Zvonko; Kondov, Goran; Anastasovska, Ankica

    2016-01-01

    BACKGROUND: Parapneumonic effusions complicating pneumonia are associated with increased morbidity and mortality. AIM: To determine the role of the clinical, laboratory and radiographic features to the differential diagnosis of patients with community- acquired pneumonia (CAP) without effusion, uncomplicated parapneumonic effusion (UCPPE) and complicated parapneumonic effusion (CPPE). MATERIAL AND METHODS: We analysed 148 patients with CAP without effusion, 50 with UCPPE and 44 with CPPE. In three groups of patients, the majority was male patients (58.11%, 58%, 61.36%) consequently. RESULTS: The chronic heart failure was the most common comorbidity in a group with CAP (28; 18.92%) and UCPPE (7; 14%), alcoholism (12;12.77%) in a group with CPPE. Patients with CPPE had significantly longer fever compared to patients with CAP without effusion (p = 0.003). Pleuritic chest pain (86.36%) and dyspnea (88.64%) were the most common symptoms in CPPE, then to group with UCPPE (60%; 52%), and in CAP without effusion (25.68%; 47,97%). Diffuse pulmonary changes were detected more frequently in the group with CAP without effusion compared with the group with CPPE (64.86 % vs. 27.27 %), while the segment lung changes were more common in patients with CPPE (50% vs. 20.27%). Patients with CPPE were significant with higher erythrocytes sedimentation rate (ESR), white blood cells (WBC) and serum C- reactive protein (CRP) than it the other two groups (p = 0.00090, p = 0.01, p= 0.000065). CONCLUSION: Proper analysis of clinical, laboratory and radiographic features of patients with CAP and parapneumonic effusion can prevent mismanagement in these patients and will reduce morbidity and mortality. PMID:27703568

  11. Diabetes mellitus in neonates and infants: genetic heterogeneity, clinical approach to diagnosis, and therapeutic options.

    PubMed

    Rubio-Cabezas, Oscar; Ellard, Sian

    2013-01-01

    Over the last decade, we have witnessed major advances in the understanding of the molecular basis of neonatal and infancy-onset diabetes. It is now widely accepted that diabetes presenting before 6 months of age is unlikely to be autoimmune type 1 diabetes. The vast majority of such patients will have a monogenic disorder responsible for the disease and, in some of them, also for a number of other associated extrapancreatic clinical features. Reaching a molecular diagnosis will have immediate clinical consequences for about half of affected patients, as identification of a mutation in either of the two genes encoding the ATP-sensitive potassium channel allows switching from insulin injections to oral sulphonylureas. It also facilitates genetic counselling within the affected families and predicts clinical prognosis. Importantly, monogenic diabetes seems not to be limited to the first 6 months but extends to some extent into the second half of the first year of life, when type 1 diabetes is the more common cause of diabetes. From a scientific perspective, the identification of novel genetic aetiologies has provided important new knowledge regarding the development and function of the human pancreas.

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

    ERIC Educational Resources Information Center

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

    2009-01-01

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

  13. Electrophysiological features of inherited demyelinating neuropathies: A reappraisal in the era of molecular diagnosis.

    PubMed

    Lewis, R A; Sumner, A J; Shy, M E

    2000-10-01

    The observation that inherited demyelinating neuropathies have uniform conduction slowing and that acquired disorders have nonuniform or multifocal slowing was made prior to the identification of mutations in myelin-specific genes which cause many of the inherited disorders involving peripheral nerve myelin. It is now clear that the electrophysiological aspects of these disorders are more complex than previously realized. Specifically, certain mutations appear to induce nonuniform slowing of conduction which resemble the findings in acquired demyelinating neuropathies. It is clinically important to recognize the different electrodiagnostic patterns of the various inherited demyelinating neuropathies. In addition, an understanding of the relationship between mutations of specific genes and their associated neurophysiological findings is likely to facilitate understanding of the role of these myelin proteins in peripheral nerve function and of how abnormalities in myelin proteins lead to neuropathy. We therefore review the current information on the electrophysiological features of the inherited demyelinating neuropathies in hopes of clarifying their electrodiagnostic features and to shed light on the physiological consequences of the different genetic mutations.

  14. [Septic arthritis in children with normal initial C-reactive protein: clinical and biological features].

    PubMed

    Basmaci, R; Ilharreborde, B; Bonacorsi, S; Kahil, M; Mallet, C; Aupiais, C; Doit, C; Dugué, S; Lorrot, M

    2014-11-01

    Septic arthritis has to be suspected in children with joint effusion and fever so as to perform joint aspiration, which will confirm the diagnosis by bacteriological methods, and to perform surgical treatment by joint lavage. Since development of current molecular methods, such as real-time PCR, Kingella kingae has become the first microbial agent of osteoarticular infections in young children, whereas Staphylococcus aureus is second. C-reactive protein (CRP) is an aid used to diagnose septic arthritis, but its elevation could be moderate. In a previous study, conducted at our hospital, 10% of children hospitalized for S. aureus or K. kingae septic arthritis had a CRP level<10 mg/L. To determine if diagnosis of septic arthritis could be made by other parameters, we analyzed the clinical and biologic features of these patients and compared them to those of children hospitalized for septic arthritis with initial CRP ≥10 mg/L. Among the 89 children with septic arthritis, 10% (n=9) had initial CRP<10 mg/L (K. kingae, n=5/63 ; S. aureus, n=4/26). Initial temperature and fibrinogen were significantly lower in the CRP<10 mg/L group than in the other (37.3°C vs. 37.9°C, P=0.039 and 4.19 vs. 5.72 g/L, P=0.003, respectively). Age, symptom duration before diagnosis, as well as leukocyte and platelet counts were similar in both groups. Two children (2/89=2.2%) with S. aureus septic arthritis had no fever, CRP elevation, or fibrinogen elevation. In the CRP-negative group, three of four children with S. aureus arthritis and one of five with K. kingae arthritis had a high CRP level (34, 40, 61, and 13 mg/L, respectively) 3 days after surgery and antibiotic treatment. One child with K. kingae septic arthritis and initial CRP<10 mg/L needed a second surgical drainage because of relapse of arthritis. In the S. aureus arthritis group, none of the children with initial CRP<10 mg/L experienced complications, while six of those with initial CRP≥10 mg/L needed a second surgical act

  15. Assessment of Clinical Diagnosis, Microscopy, Rapid Diagnostic Tests, and Polymerase Chain Reaction in the Diagnosis of Plasmodium falciparum in Nigeria

    PubMed Central

    Ojurongbe, Olusola; Adegbosin, Olunike Olayeni; Taiwo, Sunday Samuel; Alli, Oyebode Armstrong Terry; Olowe, Olugbenga Adekunle; Ojurongbe, Taiwo Adetola; Bolaji, Oloyede Samuel; Adeyeba, Oluwaseyi Adegboyega

    2013-01-01

    This study compares the performance of clinical diagnosis and three laboratory diagnostic methods (thick film microscopy (TFM), rapid diagnostic test (RDT), and polymerase chain reaction (PCR)) for the diagnosis of Plasmodium falciparum in Nigeria. Using clinical criteria, 217 children were recruited into the study out of which 106 (48.8%) were positive by TFM, 84 (38.7%) by RDT, and 125 (57.6%) by PCR. Using a composite reference method generated from the three diagnostic methods, 71 (32.7%) patients were found to be truly infected and 90 (41.5%) truly uninfected, while 56 (25.8%) were misidentified as infected or noninfected. When each of the 3 diagnostic methods was compared with the composite reference, PCR had sensitivity of 97.3%, specificity of 62.5%, positive predictive value (PPV) of 56.8%, and negative predictive value (NPV) of 97.8%; microscopy had sensitivity of 77.2%, specificity of 72%, PPV of 66.9%, and NPV of 81.1%, while RDT had sensitivity of 62.3%, specificity of 87.4%, PPV of 67.7%, and NPV of 84.5%. PCR test performed best among the three methods followed by TFM and RDT in that order. The result of this study shows that clinical diagnosis cannot be relied upon for accurate diagnosis of P. falciparum in endemic areas. PMID:24371538

  16. Assessment of Clinical Diagnosis, Microscopy, Rapid Diagnostic Tests, and Polymerase Chain Reaction in the Diagnosis of Plasmodium falciparum in Nigeria.

    PubMed

    Ojurongbe, Olusola; Adegbosin, Olunike Olayeni; Taiwo, Sunday Samuel; Alli, Oyebode Armstrong Terry; Olowe, Olugbenga Adekunle; Ojurongbe, Taiwo Adetola; Bolaji, Oloyede Samuel; Adeyeba, Oluwaseyi Adegboyega

    2013-01-01

    This study compares the performance of clinical diagnosis and three laboratory diagnostic methods (thick film microscopy (TFM), rapid diagnostic test (RDT), and polymerase chain reaction (PCR)) for the diagnosis of Plasmodium falciparum in Nigeria. Using clinical criteria, 217 children were recruited into the study out of which 106 (48.8%) were positive by TFM, 84 (38.7%) by RDT, and 125 (57.6%) by PCR. Using a composite reference method generated from the three diagnostic methods, 71 (32.7%) patients were found to be truly infected and 90 (41.5%) truly uninfected, while 56 (25.8%) were misidentified as infected or noninfected. When each of the 3 diagnostic methods was compared with the composite reference, PCR had sensitivity of 97.3%, specificity of 62.5%, positive predictive value (PPV) of 56.8%, and negative predictive value (NPV) of 97.8%; microscopy had sensitivity of 77.2%, specificity of 72%, PPV of 66.9%, and NPV of 81.1%, while RDT had sensitivity of 62.3%, specificity of 87.4%, PPV of 67.7%, and NPV of 84.5%. PCR test performed best among the three methods followed by TFM and RDT in that order. The result of this study shows that clinical diagnosis cannot be relied upon for accurate diagnosis of P. falciparum in endemic areas.

  17. [Neuromuscular dynamic scapular winging: Clinical, electromyographic and magnetic resonance imaging diagnosis].

    PubMed

    Nguyen, Christelle; Guérini, Henri; Roren, Alexandra; Zauderer, Jennifer; Vuillemin, Valérie; Seror, Paul; Ouaknine, Michaël; Palazzo, Clémence; Bourdet, Christopher; Pluot, Étienne; Roby-Brami, Agnès; Drapé, Jean-Luc; Rannou, François; Poiraudeau, Serge; Lefèvre-Colau, Marie-Martine

    2015-12-01

    Dyskinesia of the scapula is a clinical diagnosis and includes all disorders affecting scapula positioning and movement whatever its etiology. Scapular winging is a subtype of scapular dyskinesia due to a dynamic prominence of the medial border of the scapula (DSW) secondary to neuromuscular imbalance in the scapulothoracic stabilizer muscles. The two most common causes of DSW are microtraumatic or idiopathic lesions of the long thoracic nerve (that innerves the serratus anterior) or the accessory nerve (that innerves the trapezius). Diagnosis of DSW is clinical and electromyographic. Use of magnetic resonance imaging (MRI) could be of interest to distinguish lesion secondary to a long thoracic nerve from accessory nerve and to rule out scapular dyskinesia related to other shoulder disorders. Causal neuromuscular lesion diagnosis in DSW is challenging. Clinical examinations, combined with scapular MRI, could help to their specific diagnosis, determining their stage, ruling out differential diagnosis and thus give raise to more targeted treatment.

  18. The Role of Biomedical Knowledge in Diagnosis of Difficult Clinical Cases

    ERIC Educational Resources Information Center

    Woods, Nicole N.; Brooks, Lee R.; Norman, Geoffrey R.

    2007-01-01

    Although biomedical knowledge is believed to be of little value in diagnosis of routine clinical cases, studies of clinical reasoning have found that physicians revert to use of basic biomedical knowledge when faced with challenging clinical problems. The current paper presents two experiments that empirically examine the role of biomedical…

  19. [Monoclonal gammopathies of indetermined significance: diagnosis and clinical follow-up guidelines].

    PubMed

    Parreira, Joana; Lúcio, Paulo; João, Cristina; Macedo, Ana; Sarmento, Ana Bela; Geraldes, Catarina; Gonçalves, Cristina; Esteves, Graça

    2014-01-01

    The Portuguese group of multiple myeloma of the Portuguese Society of Hematology proposes a national protocol for diagnosis and clinical follow-up of monoclonal gammopathies. The proposed protocol aims to standardize clinical management of monoclonal gammopathies. Furthermore, it would also define the major risk factors for progression to Multiple Myeloma that require a precocious close articulation between general practitioners and a Hematology Clinic.

  20. APOE4 carriers and non-carriers with the clinical diagnosis of Alzheimer’s dementia and minimal amyloid plaques

    PubMed Central

    Monsell, Sarah E.; Kukull, Walter A.; Roher, Alex E.; Maarouf, Chera L.; Serrano, Geidy; Beach, Thomas G.; Caselli, Richard J.; Montine, Thomas J.; Reiman, Eric M.

    2016-01-01

    Importance Amyloid-β (Aβ) plaques are a cardinal neuropathological feature of Alzheimer’s disease (AD), yet over a third of apolipoprotein E ε4 (APOE4) non-carriers with the clinical diagnosis of mild-to-moderate Alzheimer’s dementia may not meet positron emission tomography (PET) criteria for significant cerebral amyloidosis. Objective This study sought to clarify the percentage of APOE4 carriers and non-carriers with the primary clinical diagnosis of mild-to-moderate Alzheimer’s dementia near the end of life and minimal Aβ plaques at autopsy—and the extent to which these cases are associated with appreciable neurofibrillary degeneration or a primary neuropathologic diagnosis other than AD. Design Participants in this study were obtained from the National Alzheimer’s Coordinating Center’s Uniform Data Set (UDS). Setting The UDS comprises longitudinal clinical assessments performed at the Alzheimer's Disease Centers funded by the National Institute on Aging. Neuropathology data is available for the subset of expired participants. Participants Exactly 100 APOE4 non-carriers and 100 carriers had the primary clinical diagnosis of mild-to-moderate Alzheimer’s dementia at their last visit, known APOE4 genotype, died within the ensuing 24 months, and underwent neuropathologic evaluation. Main Outcomes and Measures Standardized histopathologic assessments of Alzheimer’s disease neuropathologic changes were the primary measures of interest in this study, specifically CERAD neuritic plaque density score, diffuse plaque density score, and Braak stage for neurofibrillary degeneration. Results 37% of APOE4 non-carriers and 13% of carriers with the primary clinical diagnosis of mild-to-moderate Alzheimer’s dementia had nonexistent or sparse neuritic plaques. 44% of the carriers and non-carriers with minimal neuritic plaques had Braak stage III–VI ratings and 38% met neuropathological criteria for other dementia-related diseases. Conclusions and relevance

  1. [Increasing incidence of angioedema without urticaria--clinical features].

    PubMed

    Marković, Asja Stipić; Janzeković, Martina

    2011-01-01

    The causes of angioedema (AE), a self-limited, localized swelling of subcutaneous tissue or mucosa unaccompanied by urticaria, are diverse. The commonly applied label of "allergic" is frequently wrong and standard anti-allergic therapy can be ineffective. Types of AE could be categorized according to mediators which mediate vascular leakage: bradykinin AE (hereditary, acquired, angiotensin-converting enzyme inhibitor (ACEi)-related), histamine AE (allergic etiology), and various mediators mediated AE (pseudoallergic reaction to non-steroidal anti-inflammatory drugs). Idiopathic AE is a poorly understood syndrome. The growing relevance of AE without urticaria has been highlighted; angioedema is the most common cause of hospital admission among all acute allergic diseases. The diagnosis of AE is based on the presence of family history (hereditary), absence of family history with the onset during or after the fourth decade of life (acquired C1lnh deficiency), and treatment with ACEi (ACEi-related angioedema). About 0.1%-0.7% of patients taking ACEi develop angioedema as a well-documented but still frequently unrecognized side effect of drugs. Laboratory diagnosis is enabled by measuring serum levels of C1lnh antigen or C1lnh function. Type 1 (hereditary angioedema (HAE) was diagnosed when both antigenic and functional levels of C1lnh were below 50% of normal, and type 2 when functional levels of C1lnh were low, along with antigenic levels normal or higher. ACEi-related AE is diagnosed when AE recurs during therapy and disappears upon withdrawal. Symptoms may appear several years after therapy introduction. Severe acute attacks should be treated with C1lnh concentrate and icatibant, a selective and specific antagonist of bradykinin B2 receptors. Prophylaxis with attenuated androgens (danazol, stanazolol, oxandrolone) is effective in preventing symptom development.

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

    Technology Transfer Automated Retrieval System (TEKTRAN)

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

  3. Integrated clinical-ultrasonographic diagnosis in acute appendicitis.

    PubMed

    Summa, M; Perrone, F; Priora, F; Testa, S; Quarati, R; Spinoglio, G

    2007-12-01

    Sommario SCOPO: L'appendicite acuta è una delle urgenze chirurgiche addominali più comuni. Se non trattata, può rapidamente progredire verso complicanze severe, quali la perforazione e la peritonite. Spesso i chirurghi optano per un intervento chirurgico precoce anche in caso di diagnosi solo probabile, con il rischio di eseguire una quota importante di appendicectomie inutili. Lo scopo dello studio è di analizzare la nostra esperienza con la diagnosi integrata clinico-ultrasonografica dell'appendicite acuta. MATERIALI E METODI: Durante il periodo gennaio 1999-dicembre 2006 1447 pazienti sono stati sottoposti a valutazione clinica, a conta leucocitaria, dosaggio della proteina C reattiva ed ecografia addominale. È stata utilizzata la tecnica ecografia di compressione graduale, con sonda ad alta frequenza. RISULTATI: È stata formulata diagnosi ecografica di appendicite acuta in 368 pazienti (25%). Ulteriori 8 pazienti sono stati operati sulla base del solo giudizio clinico. Abbiamo osservato 7 casi di falsi positivi ecografici. In 1079 (75% del totale) pazienti è stato espresso un giudizio diagnostico negativo per appendicite acuta: in 173 di essi (12%) è stata formulata una diagnosi diversa. I restanti 906 pazienti sono stati sottoposti a controllo clinico fino alla risoluzione della sintomatologia, senza alcuna complicanza. I nostri risultati hanno dimostrato una sensibilità dell'ecografia del 98%, una specificità del 99%, un valore predittivo positivo del 98% e un valore predittivo negativo del 99%. L'accuratezza diagnostica globale è stata del 99%. CONCLUSIONI: La diagnosi integrata (clinica, di laboratorio ed ecografica) dell'appendicite acuta consente una diagnosi sicura, con risparmio di risorse evitando il ricorso ad appendicectomie inutili.

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

    PubMed

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

    2013-02-01

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

  5. Clinical features and surgical outcomes of primary canaliculitis with concretions

    PubMed Central

    Xiang, Shengjin; Lin, Bin; Pan, Qintuo; Zheng, Meiqin; Qin, Xiaoyi; Wang, Youpei; Zhang, Zongduan

    2017-01-01

    Abstract The purpose of our study is to analyze the clinical, ultrasonic, microbiologic, and histopathologic characteristics, management, and outcomes in a series of primary canaliculitis with concretions patients who underwent canaliculotomy with curettage. Thirty-six patients were reviewed for age, sex, location and laterality, duration of symptoms, clinical symptoms, ultrasonic signs, result of microbiologic culture and histopathologic examination, treatment, and outcomes. Main outcomes were the clinical, ultrasonic, and microbiological characteristics of the canalicular concretions; the histopathologic profiles; and the treatment effect. Thirty-six patients were identified with concretions in all 37 cases of the patients with canaliculitis. There were 30 (83.3%) female patients with a mean age of 54.2 years. Twenty-eight (77.8%) patients were misdiagnosed or delayed diagnosed, and the mean duration was 17.1 months. The common most clinical presentations were discharge (100%), epiphora (66.7%), erythema (52.8%), and swelling (47.2%), and concretions were found in 31 of 37 patients by typical clinical manifestations and in 5 of 6 patients by ultrasonic. Actinomyces was found in 8 of 13 histopathologic specimens, and microbiological cultures were positive in 13 of 24 patients. All patients underwent canaliculotomy with curettage to completely remove all concretions and contents; 35 of 36 patients’ symptoms improved and 1 recurred after treatment at a median of 21.7 months follow-up according to the telephonic questionnaires. Canalicular concretions play an important role in primary canaliculitis. Canaliculotomy with curettage is a standard therapy with canalicular concretions, and the surgical removal of all possible concretions is essential for cure. PMID:28248874

  6. Wide clinical variability in conditions with coarse facial features and hypertrichosis caused by mutations in ABCC9.

    PubMed

    Czeschik, Johanna Christina; Voigt, Claudia; Goecke, Timm O; Lüdecke, Hermann-Josef; Wagner, Nicholas; Kuechler, Alma; Wieczorek, Dagmar

    2013-02-01

    We present two previously unreported and unrelated female patients, one with the tentative diagnosis of acromegaloid facial appearance (AFA), the other with the tentative diagnosis of hypertrichosis with acromegaloid facial appearance (HAFF) with or without gingival hyperplasia. Main clinical features of HAFF were generalized hypertrichosis terminalis and coarse facial features. In both patients, pregnancy was complicated by polyhydramnios, and both had hyperbilirubinemia and persistent fetal circulation. Development was normal in one patient and slightly delayed in the other. At 13 years, both had round faces with full cheeks, thick scalp hair and eyebrows, a low frontal hairline, hirsutism, hyperextensible joints and deep palmar creases. One of them additionally showed gingival hypertrophy and epicanthus, the other one was macrocephalic at birth and at the age of 13 years and suffered from repeated swelling of the soft tissue. Array analysis excluded a 17q24.2-q24.3 microdeletion, which has been reported in patients with hypertrichosis terminalis with or without gingival hyperplasia. Sequencing of the mutational hotspots of the ABCC9 gene revealed two different de novo missense mutations in the two patients. Recently, identical mutations have been found recurrently in patients with Cantú syndrome. Therefore, we propose that ABCC9 mutations lead to a spectrum of phenotypes formerly known as Cantú syndrome, HAFF and AFA, which may not be clearly distinguishable by clinical criteria, and that all patients with clinical signs belonging to this spectrum should be revisited and offered ABCC9 mutation analysis.

  7. Incidence, clinical features and para-clinical findings of achalasia in Algeria: Experience of 25 years

    PubMed Central

    Tebaibia, Amar; Boudjella, Mohammed Amine; Boutarene, Djamel; Benmediouni, Farouk; Brahimi, Hakim; Oumnia, Nadia

    2016-01-01

    AIM To investigate the incidence of achalasia in Algeria and to determine its clinical and para-clinical profile. To evaluate the impact of continuing medical education (CME) on the incidence of this disease. METHODS From 1990 to 2014, 1256 patients with achalasia were enrolled in this prospective study. A campaign of CME on diagnosis involving different regions of the country was conducted between 1999 and 2003. Annual incidence and prevalence were calculated by relating the number of diagnosed cases to 105 inhabitants. Each patient completed a standardized questionnaire, and underwent upper endoscopy, barium swallow and esophageal manometry. We systematically looked for Allgrove syndrome and familial achalasia. RESULTS The mean annual incidence raised from 0.04 (95%CI: 0.028-0.052) during the 1990s to 0.27/105 inhabitants/year (95%CI: 0.215-0.321) during the 2000s. The incidence of the disease was two and half times higher in the north and the center compared to the south of the country. One-hundred-and-twenty-nine (10%) were children and 97 (7.7%) had Allgrove syndrome. Familial achalasia was noted in 18 different families. Patients had dysphagia (99%), regurgitation (83%), chest pain (51%), heartburn 24.5% and weight loss (70%). The lower esophageal sphincter was hypertensive in 53% and hypotensive in 0.6%. CONCLUSION The mean incidence of achalasia in Algeria is at least 0.27/105 inhabitants. A good impact on the incidence of CME was noted. A gradient of incidence between different regions of the country was found. This variability is probably related to genetic and environmental factors. The discovery of an infantile achalasia must lead to looking for Allgrove syndrome and similar cases in the family. PMID:27784974

  8. [Clinical practice guidelines on the diagnosis and treatment of infectious acute diarrhea in children Peru - 2011].

    PubMed

    Gonzales S, Carlos; Bada M, Carlos; Rojas G, Raúl; Bernaola A, Guillermo; Chávez B, Carlos

    2011-01-01

    The Clinical Practice Guidelines cover the Diagnosis and Treatment of Acute Diarrhea in Pediatric Infectious is a consice information about definition, inclusion and exclusion criteria; epidemiology and etiology of infectious diarrhea. The guidelines cover aspects of diagnosis and treatment (dehydration, antibiotics, supportive therapy), nutritional support and other aspects of transferences and prevention.

  9. The clinical features, outcomes and genetic characteristics of hypertrophic cardiomyopathy patients with severe right ventricular hypertrophy

    PubMed Central

    Guo, Xiying; Fan, Chaomei; Tian, Lei; Zhang, Xiuling; Zhao, Xing; Wang, Fengqi; Zhu, Hongguang; Lin, Aiqing; Wu, Xia; Li, Yishi

    2017-01-01

    Introduction Severe right ventricular hypertrophy (SRVH) is a rare phenotype in hypertrophic cardiomyopathy (HCM) for which limited information is available. This study was undertaken to investigate the clinical, prognostic and genetic characteristics of HCM patients with SRVH. Methods HCM with SRVH was defined as HCM with a maximum right ventricular wall thickness ≥10 mm. Whole-genome sequencing (WGS) was performed in HCM patients with SRVH. Multivariate Cox proportional hazards regression models were used to identify risk factors for cardiac death and events in HCM with SRVH. Patients with apical hypertrophic cardiomyopathy (ApHCM) were selected as a comparison group. The clinical features and outcomes of 34 HCM patients with SRVH and 273 ApHCM patients were compared. Results Compared with the ApHCM group, the HCM with SRVH group included younger patients and a higher proportion of female patients and also displayed higher cardiovascular morbidity and mortality. The multivariate Cox proportional hazards regression models identified 2 independent predictors of cardiovascular death in HCM patients with SRVH, a New York Heart Association class ≥III (hazard ratio [HR] = 8.7, 95% confidence interval (CI): 1.43-52.87, p = 0.019) and an age at the time of HCM diagnosis ≤18 (HR = 5.5, 95% CI: 1.24-28.36, p = 0.026). Among the 11 HCM patients with SRVH who underwent WGS, 10 (90.9%) were identified as carriers of at least one specific sarcomere gene mutation. MYH7 and TTN mutations were the most common sarcomere mutations noted in this study. Two or more HCM-related gene mutations were observed in 9 (82%) patients, and mutations in either other cardiomyopathy-related genes or ion-channel disease-related genes were found in 8 (73%) patients. Conclusions HCM patients with SRVH were characterized by poor clinical outcomes and the presentation of multiple gene mutations. PMID:28323875

  10. Clinical features of childhood diabetes mellitus focusing on latent autoimmune diabetes

    PubMed Central

    Lee, Seung Ho

    2016-01-01

    Purpose This study was designed to evaluate the clinical characteristics of childhood diabetes mellitus (DM) according to its classification as well as the clinical course of latent autoimmune diabetes (LAD) that initially showed noninsulin dependence despite autoantibody positivity. Methods A total of 91 subjects diagnosed between 2001 and 2015 were enrolled in the study. They were classified into 3 groups: type 1 DM, LAD, and type 2 DM. Clinical features and laboratory findings were compared among groups. Results Among 91 subjects, type 1 DM, LAD, and type 2 DM were 51 (56.0%), 7 (7.7%), and 33 (36.3%), respectively. In LAD, age at diagnosis and BMI Z-scores were higher, as compared with those in type 1 DM. Initial serum c-peptide levels were higher in LAD than those in type 1 DM, but lower than those in type 2 DM. In LAD, the mean follow-up duration was 4.56 years, and 43% of the patients ultimately required intensive insulin treatment with dosage of > 0.5 U/kg/day. HbA1C and serum c-peptide levels at the time of intensive insulin treatment were 9.43±0.93% and 1.37±1.36 ng/mL, respectively. Recent serum c-peptide/glucose ratio was lower in the group requiring intensive insulin treatment than the group without intensive insulin treatment, with P-value of 0.057 (0.003±0.005 vs. 0.071±0.086). Conclusion Initial autoantibody evaluation is useful for classification and management. Close monitoring of the patients with LAD is important due to the expected need for intensive insulin treatment within several years. PMID:28164074

  11. Gluteal Tendinopathy: Integrating Pathomechanics and Clinical Features in Its Management.

    PubMed

    Grimaldi, Alison; Fearon, Angela

    2015-11-01

    Synopsis Gluteal tendinopathy is now believed to be the primary local source of lateral hip pain, or greater trochanteric pain syndrome, previously referred to as trochanteric bursitis. This condition is prevalent, particularly among postmenopausal women, and has a considerable negative influence on quality of life. Improved prognosis and outcomes in the future for those with gluteal tendinopathy will be underpinned by advances in diagnostic testing, a clearer understanding of risk factors and comorbidities, and evidence-based management programs. High-quality studies that meet these requirements are still lacking. This clinical commentary provides direction to assist the clinician with assessment and management of the patient with gluteal tendinopathy, based on currently limited available evidence on this condition and the wider tendon literature and on the combined clinical experience of the authors. J Orthop Sports Phys Ther 2015;45(11):910-922. Epub 17 Sep 2015. doi:10.2519/jospt.2015.5829.

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

    PubMed Central

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

    2015-01-01

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

  13. Genetic and clinical features of primary torsion dystonia

    PubMed Central

    Ozelius, Laurie J.; Bressman, Susan B.

    2011-01-01

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

  14. Lichenoid sarcoidosis: a case with clinical and histopathological lichenoid features.

    PubMed

    Garrido-Ruiz, Maria C; Enguita-Valls, Ana B; de Arriba, Marta González; Vanaclocha, Francisco; Peralto, Jose Luis Rodriguez

    2008-06-01

    Sarcoidosis is a chronic multisystemic granulomatous disease of unknown etiology, characterized by the formation of noncaseating granulomas in the involved organs. Cutaneous involvement is about 25% with different clinical expressions, the lichenoid pattern being one of the rarest types of cutaneous sarcoidosis. Lichenoid sarcoidosis clinically manifests with multiple scale papules involving extensive skin areas, especially the trunk, limbs, and face mimicking a lichen planus. Although diverse histologic patterns have been previously related, a lichenoid granulomatous infiltrate involving the dermo-epidermal junction has never been reported in lichenoid sarcoidosis. We report a case of a 43-year-old woman presenting with skin-colored pruritic papules, slightly scaling in trunk, extremities, and ears. These symptoms condition continued to expand and worsen for several years. The patient was otherwise in good health with no lymphadenopathies. Histopathologic examination of a skin biopsy showed an upper dermal granulomatous infiltrate of epithelioid cells, without necrosis, distributed in a lichenoid pattern with many cytoid bodies. We consider this may be the first case presenting a characteristic microscopic granulomatous lichen-like pattern in the setting of a clinically lichenoid type of sarcoidosis.

  15. Geographic atrophy: clinical features and potential therapeutic approaches.

    PubMed

    Holz, Frank G; Strauss, Erich C; Schmitz-Valckenberg, Steffen; van Lookeren Campagne, Menno

    2014-05-01

    In contrast to wet age-related macular degeneration (AMD), where loss of vision is typically acute and treatment leads to a relatively rapid reduction in retinal fluid and subsequent improvements in visual acuity (VA), disease progression and vision loss in geographic atrophy (GA) owing to AMD are gradual processes. Although GA can result in significant visual function deficits in reading, night vision, and dark adaptation, and produce dense, irreversible scotomas in the visual field, the initial decline in VA may be relatively minor if the fovea is spared. Because best-corrected VA does not correlate well with GA lesions or progression, alternative clinical endpoints are being sought. These include reduction in drusen burden, slowing the enlargement rate of GA lesion area, and slowing or eliminating the progression of intermediate to advanced AMD. Among these considerations, slowing the expansion of the GA lesion area seems to be a clinically suitable primary efficacy endpoint. Because GA lesion growth is characterized by loss of photoreceptors, it is considered a surrogate endpoint for vision loss. Detection of GA can be achieved with a number of different imaging techniques, including color fundus photography, fluorescein angiography, fundus autofluorescence (FAF), near-infrared reflectance, and spectral-domain optical coherence tomography. Previous studies have identified predictive characteristics for progression rates including abnormal patterns of FAF in the perilesional retina. Although there is currently no approved or effective treatment to prevent the onset and progression of GA, potential therapies are being evaluated in clinical studies.

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

    PubMed Central

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

    2012-01-01

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

  17. Clinical features, comorbidity, and cognitive impairment in elderly bipolar patients

    PubMed Central

    Rise, Ida Vikan; Haro, Josep Maria; Gjervan, Bjørn

    2016-01-01

    Introduction Data specific to late-life bipolar disorder (BD) are limited. Current research is sparse and present guidelines are not adapted to this group of patients. Objectives We present a literature review on clinical characteristics, comorbidities, and cognitive impairment in patients with late-life BD. This review discusses common comorbidities that affect BD elders and how aging might affect cognition and treatment. Methods Eligible studies were identified in MedLine by the Medical Subject Headings terms “bipolar disorder” and “aged”. We only included original research reports published in English between 2012 and 2015. Results From 414 articles extracted, 16 studies were included in the review. Cardiovascular and respiratory conditions, type II diabetes, and endocrinological abnormalities were observed as highly prevalent. BD is associated with a high suicide risk. Bipolar elderly had an increased risk of dementia and performed worse on cognitive screening tests compared to age-matched controls across different levels of cognition. Despite high rates of medical comorbidity among bipolar elderly, a systematic under-recognition and undertreatment of cardiovascular disease have been suggested. Conclusion There was a high burden of physical comorbidities and cognitive impairment in late-life BD. Bipolar elderly might be under-recorded and undertreated in primary medical care, indicating that this group needs an adapted clinical assessment and specific clinical guidelines need to be established. PMID:27274256

  18. Clinical and pathological features of alcohol-related brain damage.

    PubMed

    Zahr, Natalie M; Kaufman, Kimberley L; Harper, Clive G

    2011-05-01

    One of the sequelae of chronic alcohol abuse is malnutrition. Importantly, a deficiency in thiamine (vitamin B(1)) can result in the acute, potentially reversible neurological disorder Wernicke encephalopathy (WE). When WE is recognized, thiamine treatment can elicit a rapid clinical recovery. If WE is left untreated, however, patients can develop Korsakoff syndrome (KS), a severe neurological disorder characterized by anterograde amnesia. Alcohol-related brain damage (ARBD) describes the effects of chronic alcohol consumption on human brain structure and function in the absence of more discrete and well-characterized neurological concomitants of alcoholism such as WE and KS. Through knowledge of both the well-described changes in brain structure and function that are evident in alcohol-related disorders such as WE and KS and the clinical outcomes associated with these changes, researchers have begun to gain a better understanding of ARBD. This Review examines ARBD from the perspective of WE and KS, exploring the clinical presentations, postmortem brain pathology, in vivo MRI findings and potential molecular mechanisms associated with these conditions. An awareness of the consequences of chronic alcohol consumption on human behavior and brain structure can enable clinicians to improve detection and treatment of ARBD.

  19. [Clinical diagnosis of Autosomal Dominant Polycystic Kidney Disease].

    PubMed

    Magistroni, Riccardo; Izzi, Claudia; Scolari, Francesco

    2016-01-01

    Autosomal dominant polycystic kidney disease (ADPKD) is the most common genetic disorder related to kidney. ADPKD is usually easy to diagnose in people who have a family history of ADPKDs developing typical symptoms, including flank, abdominal pain or macroscopic hematuria. In this setting, diagnosis in adults at risk for ADPKD is commonly performed by ultrasonography, which reveals two enlarged kidneys with multiple bilateral cysts. ADPKD may be more difficult to diagnose in the absence of family history or in subjects with atypical presentation, including asymmetric or focal renal imaging findings, discordant disease within family, early onset of ADPKD and development of ESRD before 30 yr of age. The presence of a total of three or more renal cysts for at-risk subjects aged 15-39 years and two cysts or more in each kidney for at-risk subjects aged 40-59 years are sufficient for the diagnosis of ADPKD. The absence of any renal cyst is sufficient for disease exclusion only for at-risk subjects aged 40 years or older. If the family history is negative, the diagnosis of ADPKD can be made in a patient with enlarged kidneys, numerous cysts, presence of liver cysts and absence of findings suggesting a different cystic disease. If the imaging diagnosis is not clear or showing atypical manifestations in subjects, molecular genetic testing should be performed.

  20. Cushing's syndrome: from physiological principles to diagnosis and clinical care

    PubMed Central

    Raff, Hershel; Carroll, Ty

    2015-01-01</